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 14 56755230 56755230 + Missense_Mutation SNP G G T TCGA-OR-A5JA-01A-11D-A29I-10 TCGA-OR-A5JA-10A-01D-A29L-10 g.chr14:56755230G>T c.385G>T c.(385-387)Gcc>Tcc p.A129S BLCA 14 56746399 56746399 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 g.chr14:56746399C>G c.213C>G c.(211-213)atC>atG p.I71M BLCA 14 56755262 56755262 + Silent SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 g.chr14:56755262C>T c.417C>T c.(415-417)ttC>ttT p.F139F BLCA 14 56757113 56757113 + Missense_Mutation SNP C C A TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr14:56757113C>A c.635C>A c.(634-636)tCt>tAt p.S212Y BLCA 14 56757153 56757153 + Silent SNP G G A TCGA-5N-A9KM-01A-11D-A42E-08 TCGA-5N-A9KM-10A-01D-A42H-08 g.chr14:56757153G>A c.675G>A c.(673-675)tcG>tcA p.S225S BLCA 14 56763378 56763378 + Missense_Mutation SNP C C G TCGA-XF-AAMR-01A-31D-A42E-08 TCGA-XF-AAMR-10A-01D-A42H-08 g.chr14:56763378C>G c.757C>G c.(757-759)Ctc>Gtc p.L253V BLCA 14 56763420 56763420 + Missense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 g.chr14:56763420C>G c.799C>G c.(799-801)Cag>Gag p.Q267E BLCA 14 56763459 56763459 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 g.chr14:56763459G>A c.838G>A c.(838-840)Gcc>Acc p.A280T BRCA 14 56757079 56757079 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 g.chr14:56757079G>A c.601G>A c.(601-603)Gag>Aag p.E201K BRCA 14 56763422 56763422 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr14:56763422G>C c.801G>C c.(799-801)caG>caC p.Q267H BRCA 14 56763462 56763462 + Missense_Mutation SNP C C T TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 g.chr14:56763462C>T c.841C>T c.(841-843)Cgg>Tgg p.R281W BRCA 14 56763595 56763595 + Missense_Mutation SNP G G A TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 g.chr14:56763595G>A c.974G>A c.(973-975)cGg>cAg p.R325Q CESC 14 56746461 56746461 + Missense_Mutation SNP A A G TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 g.chr14:56746461A>G c.275A>G c.(274-276)gAg>gGg p.E92G COAD 14 56645166 56645166 + Missense_Mutation SNP C C T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr14:56645166C>T c.191C>T c.(190-192)aCg>aTg p.T64M COAD 14 56757045 56757045 + Silent SNP C C T TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr14:56757045C>T c.567C>T c.(565-567)ggC>ggT p.G189G COAD 14 56763462 56763462 + Silent SNP C C A TCGA-AY-6386-01A-21D-1719-10 TCGA-AY-6386-10A-01D-1719-10 g.chr14:56763462C>A c.841C>A c.(841-843)Cgg>Agg p.R281R COAD 14 56763463 56763463 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr14:56763463G>A c.842G>A c.(841-843)cGg>cAg p.R281Q COAD 14 56763572 56763572 + Silent SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr14:56763572C>T c.951C>T c.(949-951)caC>caT p.H317H COADREAD 14 56645166 56645166 + Missense_Mutation SNP C C T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr14:56645166C>T c.191C>T c.(190-192)aCg>aTg p.T64M COADREAD 14 56757045 56757045 + Silent SNP C C T TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr14:56757045C>T c.567C>T c.(565-567)ggC>ggT p.G189G COADREAD 14 56763462 56763462 + Silent SNP C C A TCGA-AY-6386-01A-21D-1719-10 TCGA-AY-6386-10A-01D-1719-10 g.chr14:56763462C>A c.841C>A c.(841-843)Cgg>Agg p.R281R COADREAD 14 56763463 56763463 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr14:56763463G>A c.842G>A c.(841-843)cGg>cAg p.R281Q COADREAD 14 56763572 56763572 + Silent SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr14:56763572C>T c.951C>T c.(949-951)caC>caT p.H317H DLBC 14 56763743 56763743 + Silent SNP G G T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr14:56763743G>T c.1122G>T c.(1120-1122)tcG>tcT p.S374S ESCA 14 56645145 56645145 + Missense_Mutation SNP G G T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 g.chr14:56645145G>T c.170G>T c.(169-171)aGc>aTc p.S57I ESCA 14 56755351 56755351 + Splice_Site SNP G G C TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 g.chr14:56755351G>C c.506G>C c.(505-507)gGa>gCa p.G169A ESCA 14 56763776 56763776 + Silent SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 g.chr14:56763776G>A c.1155G>A c.(1153-1155)ccG>ccA p.P385P ESCA 14 56763841 56763841 + Missense_Mutation SNP A A G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 g.chr14:56763841A>G c.1220A>G c.(1219-1221)gAg>gGg p.E407G GBMLGG 14 56763754 56763754 + Missense_Mutation SNP C C G TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 g.chr14:56763754C>G c.1133C>G c.(1132-1134)gCa>gGa p.A378G HNSC 14 56755238 56755238 + Silent SNP C C T TCGA-CR-5243-01A-01D-1512-08 TCGA-CR-5243-10A-01D-1512-08 g.chr14:56755238C>T c.393C>T c.(391-393)atC>atT p.I131I HNSC 14 56755320 56755320 + Nonsense_Mutation SNP G G T TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 g.chr14:56755320G>T c.475G>T c.(475-477)Gga>Tga p.G159* HNSC 14 56763458 56763458 + Silent SNP C C T TCGA-H7-A6C5-01A-11D-A30E-08 TCGA-H7-A6C5-10A-01D-A30H-08 g.chr14:56763458C>T c.837C>T c.(835-837)gcC>gcT p.A279A KIPAN 14 56746403 56746403 + Missense_Mutation SNP T T C TCGA-Y8-A8RY-01A-11D-A36X-10 TCGA-Y8-A8RY-10A-01D-A370-10 g.chr14:56746403T>C c.217T>C c.(217-219)Tgc>Cgc p.C73R KIPAN 14 56746421 56746421 + Missense_Mutation SNP A A G TCGA-AK-3425-01A-02D-1361-10 TCGA-AK-3425-10A-01D-1361-10 g.chr14:56746421A>G c.235A>G c.(235-237)Ata>Gta p.I79V KIPAN 14 56757030 56757030 + Silent SNP G G T TCGA-CJ-4640-01A-02D-1386-10 TCGA-CJ-4640-11A-01D-1251-10 g.chr14:56757030G>T c.552G>T c.(550-552)ggG>ggT p.G184G KIPAN 14 56757051 56757052 + Missense_Mutation DNP GG GG TT TCGA-CJ-4916-01A-01D-1429-08 TCGA-CJ-4916-11A-01D-1429-08 g.chr14:56757051_56757052GG>TT c.573_574GG>TT c.(571-576)ctGGtg>ctTTtg p.V192L KIRC 14 56746421 56746421 + Missense_Mutation SNP A A G TCGA-AK-3425-01A-02D-1361-10 TCGA-AK-3425-10A-01D-1361-10 g.chr14:56746421A>G c.235A>G c.(235-237)Ata>Gta p.I79V KIRC 14 56757030 56757030 + Silent SNP G G T TCGA-CJ-4640-01A-02D-1386-10 TCGA-CJ-4640-11A-01D-1251-10 g.chr14:56757030G>T c.552G>T c.(550-552)ggG>ggT p.G184G KIRC 14 56757051 56757052 + Missense_Mutation DNP GG GG TT TCGA-CJ-4916-01A-01D-1429-08 TCGA-CJ-4916-11A-01D-1429-08 g.chr14:56757051_56757052GG>TT c.573_574GG>TT c.(571-576)ctGGtg>ctTTtg p.V192L KIRP 14 56746403 56746403 + Missense_Mutation SNP T T C TCGA-Y8-A8RY-01A-11D-A36X-10 TCGA-Y8-A8RY-10A-01D-A370-10 g.chr14:56746403T>C c.217T>C c.(217-219)Tgc>Cgc p.C73R LGG 14 56763754 56763754 + Missense_Mutation SNP C C G TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 g.chr14:56763754C>G c.1133C>G c.(1132-1134)gCa>gGa p.A378G LIHC 14 56645115 56645115 + Missense_Mutation SNP A A G TCGA-G3-A3CG-01A-11D-A20W-10 TCGA-G3-A3CG-10A-01D-A20W-10 g.chr14:56645115A>G c.140A>G c.(139-141)aAg>aGg p.K47R LIHC 14 56757106 56757106 + Missense_Mutation SNP G G A TCGA-DD-AACK-01A-11D-A40R-10 TCGA-DD-AACK-10A-01D-A40U-10 g.chr14:56757106G>A c.628G>A c.(628-630)Gag>Aag p.E210K LUAD 14 56585389 56585389 + Missense_Mutation SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 g.chr14:56585389C>G c.11C>G c.(10-12)cCt>cGt p.P4R LUAD 14 56645093 56645093 + Missense_Mutation SNP A A G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 g.chr14:56645093A>G c.118A>G c.(118-120)Aaa>Gaa p.K40E LUAD 14 56746457 56746457 + Missense_Mutation SNP G G A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 g.chr14:56746457G>A c.271G>A c.(271-273)Gtg>Atg p.V91M LUAD 14 56746482 56746482 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 g.chr14:56746482C>T c.296C>T c.(295-297)aCg>aTg p.T99M LUAD 14 56755184 56755184 + Missense_Mutation SNP C C G TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 g.chr14:56755184C>G c.339C>G c.(337-339)gaC>gaG p.D113E LUAD 14 56755250 56755250 + Silent SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 g.chr14:56755250C>T c.405C>T c.(403-405)acC>acT p.T135T LUAD 14 56757004 56757004 + Missense_Mutation SNP A A G TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr14:56757004A>G c.526A>G c.(526-528)Aaa>Gaa p.K176E LUAD 14 56757024 56757024 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr14:56757024G>T c.546G>T c.(544-546)atG>atT p.M182I LUAD 14 56763321 56763321 + Nonsense_Mutation SNP G G T TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr14:56763321G>T c.700G>T c.(700-702)Gaa>Taa p.E234* LUAD 14 56763458 56763458 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chr14:56763458C>T c.837C>T c.(835-837)gcC>gcT p.A279A LUAD 14 56763464 56763464 + Silent SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 g.chr14:56763464G>A c.843G>A c.(841-843)cgG>cgA p.R281R LUAD 14 56763638 56763638 + Missense_Mutation SNP G G T TCGA-91-8499-01A-11D-2393-08 TCGA-91-8499-10A-01D-2393-08 g.chr14:56763638G>T c.1017G>T c.(1015-1017)agG>agT p.R339S LUAD 14 56763705 56763705 + Missense_Mutation SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 g.chr14:56763705C>T c.1084C>T c.(1084-1086)Cca>Tca p.P362S LUSC 14 56746496 56746496 + Splice_Site SNP G G T TCGA-66-2763-01A-01D-1522-08 TCGA-66-2763-11A-01D-1522-08 g.chr14:56746496G>T c.e3+1 LUSC 14 56757046 56757046 + Missense_Mutation SNP G G A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 g.chr14:56757046G>A c.568G>A c.(568-570)Gtc>Atc p.V190I LUSC 14 56757088 56757088 + Missense_Mutation SNP C C A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 g.chr14:56757088C>A c.610C>A c.(610-612)Cag>Aag p.Q204K LUSC 14 56763638 56763638 + Missense_Mutation SNP G G T TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chr14:56763638G>T c.1017G>T c.(1015-1017)agG>agT p.R339S OV 14 56763463 56763463 + Missense_Mutation SNP G G A TCGA-10-0926-01A-01W-0420-08 TCGA-10-0926-11A-01D-0399-08 g.chr14:56763463G>A c.842G>A c.(841-843)cGg>cAg p.R281Q PRAD 14 56746451 56746451 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr14:56746451G>A c.265G>A c.(265-267)Gtg>Atg p.V89M PRAD 14 56763645 56763645 + Missense_Mutation SNP G G T TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr14:56763645G>T c.1024G>T c.(1024-1026)Ggc>Tgc p.G342C SKCM 14 56585388 56585388 + Missense_Mutation SNP C C T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 g.chr14:56585388C>T c.10C>T c.(10-12)Cct>Tct p.P4S SKCM 14 56746398 56746398 + Missense_Mutation SNP T T G TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 g.chr14:56746398T>G c.212T>G c.(211-213)aTc>aGc p.I71S SKCM 14 56755153 56755153 + Splice_Site SNP A A G TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 g.chr14:56755153A>G c.e4-1 SKCM 14 56755209 56755209 + Missense_Mutation SNP G G C TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 g.chr14:56755209G>C c.364G>C c.(364-366)Ggc>Cgc p.G122R SKCM 14 56755313 56755313 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 g.chr14:56755313C>T c.468C>T c.(466-468)ttC>ttT p.F156F SKCM 14 56755318 56755318 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 g.chr14:56755318C>T c.473C>T c.(472-474)gCc>gTc p.A158V SKCM 14 56757086 56757086 + Missense_Mutation SNP C C T TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr14:56757086C>T c.608C>T c.(607-609)tCc>tTc p.S203F SKCM 14 56757087 56757087 + Silent SNP C C T TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr14:56757087C>T c.609C>T c.(607-609)tcC>tcT p.S203S SKCM 14 56757136 56757136 + Silent SNP T T C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr14:56757136T>C c.658T>C c.(658-660)Ttg>Ctg p.L220L SKCM 14 56757164 56757164 + Missense_Mutation SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr14:56757164G>A c.686G>A c.(685-687)cGa>cAa p.R229Q SKCM 14 56763339 56763339 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr14:56763339C>T c.718C>T c.(718-720)Ctg>Ttg p.L240L SKCM 14 56763440 56763440 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 g.chr14:56763440C>T c.819C>T c.(817-819)ctC>ctT p.L273L SKCM 14 56763774 56763774 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 g.chr14:56763774C>T c.1153C>T c.(1153-1155)Ccg>Tcg p.P385S SKCM 14 56763866 56763866 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr14:56763866C>T c.1245C>T c.(1243-1245)ttC>ttT p.F415F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 14 56746399 56746399 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BLCA-US 14 56746399 56746399 single base substitution C G missense_variant I71M 213C>G BOCA-FR 14 56674671 56674671 single base substitution T G intron_variant BOCA-FR 14 56717948 56717948 single base substitution C G intron_variant BRCA-EU 14 56580015 56580015 single base substitution G A upstream_gene_variant BRCA-EU 14 56580688 56580688 single base substitution C T upstream_gene_variant BRCA-EU 14 56582500 56582500 single base substitution C T upstream_gene_variant BRCA-EU 14 56582543 56582543 insertion of <=200bp - C upstream_gene_variant BRCA-EU 14 56583152 56583152 single base substitution G C upstream_gene_variant BRCA-EU 14 56583203 56583203 insertion of <=200bp - G upstream_gene_variant BRCA-EU 14 56583486 56583486 single base substitution G A upstream_gene_variant BRCA-EU 14 56586477 56586477 single base substitution G A intron_variant BRCA-EU 14 56586569 56586569 single base substitution C T intron_variant BRCA-EU 14 56587956 56587956 single base substitution C G intron_variant BRCA-EU 14 56587978 56587978 single base substitution T C intron_variant BRCA-EU 14 56588313 56588313 single base substitution C T intron_variant BRCA-EU 14 56588648 56588648 single base substitution G A intron_variant BRCA-EU 14 56588851 56588851 single base substitution G A intron_variant BRCA-EU 14 56589026 56589026 single base substitution T C intron_variant BRCA-EU 14 56589921 56589921 single base substitution C G intron_variant BRCA-EU 14 56591232 56591232 single base substitution T A intron_variant BRCA-EU 14 56592200 56592200 single base substitution A G intron_variant BRCA-EU 14 56593693 56593693 single base substitution G T intron_variant BRCA-EU 14 56594792 56594792 insertion of <=200bp - A intron_variant BRCA-EU 14 56596638 56596638 single base substitution G A intron_variant BRCA-EU 14 56596801 56596801 single base substitution G A intron_variant BRCA-EU 14 56596923 56596923 single base substitution G C intron_variant BRCA-EU 14 56597013 56597013 single base substitution T C intron_variant BRCA-EU 14 56598431 56598431 single base substitution C T intron_variant BRCA-EU 14 56598918 56598918 single base substitution G T intron_variant BRCA-EU 14 56600559 56600559 single base substitution C T intron_variant BRCA-EU 14 56601354 56601354 single base substitution C G intron_variant BRCA-EU 14 56601451 56601451 single base substitution T A intron_variant BRCA-EU 14 56601846 56601846 single base substitution G A intron_variant BRCA-EU 14 56602617 56602617 single base substitution A T intron_variant BRCA-EU 14 56602945 56602945 single base substitution T G intron_variant BRCA-EU 14 56602983 56602983 single base substitution T G intron_variant BRCA-EU 14 56604136 56604136 single base substitution A T intron_variant BRCA-EU 14 56604435 56604435 single base substitution G C intron_variant BRCA-EU 14 56604969 56604969 single base substitution T C intron_variant BRCA-EU 14 56607164 56607164 single base substitution C G intron_variant BRCA-EU 14 56607533 56607533 deletion of <=200bp G - intron_variant BRCA-EU 14 56608017 56608017 single base substitution G A intron_variant BRCA-EU 14 56608106 56608106 single base substitution G C intron_variant BRCA-EU 14 56608209 56608209 single base substitution G C intron_variant BRCA-EU 14 56608278 56608278 single base substitution G C intron_variant BRCA-EU 14 56608289 56608289 single base substitution G A intron_variant BRCA-EU 14 56608323 56608323 single base substitution G A intron_variant BRCA-EU 14 56608390 56608390 single base substitution G C intron_variant BRCA-EU 14 56608515 56608515 single base substitution G A intron_variant BRCA-EU 14 56608537 56608537 single base substitution G A intron_variant BRCA-EU 14 56608584 56608584 single base substitution G A intron_variant BRCA-EU 14 56608770 56608770 single base substitution G C intron_variant BRCA-EU 14 56609156 56609156 single base substitution G A intron_variant BRCA-EU 14 56609568 56609568 insertion of <=200bp - T intron_variant BRCA-EU 14 56610143 56610143 single base substitution C G intron_variant BRCA-EU 14 56610490 56610490 single base substitution T C intron_variant BRCA-EU 14 56610930 56610930 single base substitution A G intron_variant BRCA-EU 14 56611278 56611278 single base substitution G C intron_variant BRCA-EU 14 56611648 56611648 single base substitution C T intron_variant BRCA-EU 14 56612540 56612540 single base substitution C T intron_variant BRCA-EU 14 56612542 56612542 single base substitution G C intron_variant BRCA-EU 14 56612607 56612607 single base substitution A C intron_variant BRCA-EU 14 56612762 56612762 single base substitution G T intron_variant BRCA-EU 14 56612955 56612955 single base substitution C T intron_variant BRCA-EU 14 56614286 56614286 single base substitution C A intron_variant BRCA-EU 14 56615495 56615495 single base substitution C T intron_variant BRCA-EU 14 56616719 56616719 single base substitution T A intron_variant BRCA-EU 14 56616806 56616806 single base substitution C G intron_variant BRCA-EU 14 56617253 56617253 single base substitution G A intron_variant BRCA-EU 14 56618377 56618381 deletion of <=200bp CCTCC - intron_variant BRCA-EU 14 56619023 56619023 single base substitution G T intron_variant BRCA-EU 14 56619031 56619031 single base substitution G C intron_variant BRCA-EU 14 56619573 56619573 single base substitution G A intron_variant BRCA-EU 14 56620501 56620501 single base substitution G A intron_variant BRCA-EU 14 56620607 56620607 single base substitution A G intron_variant BRCA-EU 14 56621262 56621262 single base substitution C T intron_variant BRCA-EU 14 56621361 56621361 single base substitution G A intron_variant BRCA-EU 14 56622422 56622422 single base substitution C T intron_variant BRCA-EU 14 56622874 56622874 single base substitution C G intron_variant BRCA-EU 14 56623298 56623298 single base substitution G T intron_variant BRCA-EU 14 56624060 56624060 single base substitution C G intron_variant BRCA-EU 14 56625133 56625133 single base substitution C T intron_variant BRCA-EU 14 56625269 56625269 single base substitution C T intron_variant BRCA-EU 14 56625373 56625373 single base substitution G A intron_variant BRCA-EU 14 56625380 56625380 deletion of <=200bp T - intron_variant BRCA-EU 14 56627907 56627907 single base substitution A G intron_variant BRCA-EU 14 56627967 56627967 single base substitution C G intron_variant BRCA-EU 14 56629069 56629069 single base substitution T C intron_variant BRCA-EU 14 56631652 56631652 single base substitution C G intron_variant BRCA-EU 14 56632261 56632261 single base substitution A C intron_variant BRCA-EU 14 56632346 56632346 single base substitution A G intron_variant BRCA-EU 14 56632486 56632486 single base substitution G A intron_variant BRCA-EU 14 56633231 56633231 single base substitution C G intron_variant BRCA-EU 14 56633292 56633292 single base substitution C T intron_variant BRCA-EU 14 56633356 56633356 single base substitution T A intron_variant BRCA-EU 14 56634420 56634420 single base substitution C A intron_variant BRCA-EU 14 56634709 56634709 single base substitution T C intron_variant BRCA-EU 14 56635051 56635051 single base substitution G C intron_variant BRCA-EU 14 56635195 56635195 single base substitution G T intron_variant BRCA-EU 14 56635402 56635402 single base substitution C G intron_variant BRCA-EU 14 56635503 56635503 single base substitution C G intron_variant BRCA-EU 14 56635945 56635945 single base substitution C A intron_variant BRCA-EU 14 56637380 56637380 single base substitution A T intron_variant BRCA-EU 14 56637465 56637465 single base substitution C T intron_variant BRCA-EU 14 56637802 56637802 single base substitution C A intron_variant BRCA-EU 14 56638555 56638555 single base substitution G A intron_variant BRCA-EU 14 56639780 56639780 single base substitution T C intron_variant BRCA-EU 14 56640954 56640954 single base substitution C A intron_variant BRCA-EU 14 56641558 56641558 single base substitution C T intron_variant BRCA-EU 14 56641724 56641724 single base substitution C G intron_variant BRCA-EU 14 56642058 56642058 single base substitution C T intron_variant BRCA-EU 14 56642118 56642118 single base substitution A G intron_variant BRCA-EU 14 56642451 56642451 single base substitution C A intron_variant BRCA-EU 14 56642782 56642782 single base substitution G A intron_variant BRCA-EU 14 56643352 56643352 single base substitution C T intron_variant BRCA-EU 14 56644792 56644792 single base substitution C T intron_variant BRCA-EU 14 56645565 56645565 single base substitution G C intron_variant BRCA-EU 14 56647094 56647094 single base substitution C T intron_variant BRCA-EU 14 56648133 56648133 single base substitution A G intron_variant BRCA-EU 14 56649833 56649833 single base substitution C G intron_variant BRCA-EU 14 56650157 56650157 deletion of <=200bp A - intron_variant BRCA-EU 14 56650673 56650673 single base substitution C G intron_variant BRCA-EU 14 56650733 56650733 deletion of <=200bp T - intron_variant BRCA-EU 14 56650927 56650927 single base substitution T C intron_variant BRCA-EU 14 56652132 56652132 single base substitution A G intron_variant BRCA-EU 14 56653242 56653242 single base substitution A G intron_variant BRCA-EU 14 56653938 56653938 single base substitution C A intron_variant BRCA-EU 14 56655877 56655881 deletion of <=200bp AAAGA - intron_variant BRCA-EU 14 56655880 56655880 single base substitution G T intron_variant BRCA-EU 14 56656391 56656391 single base substitution G T intron_variant BRCA-EU 14 56657215 56657215 single base substitution C G intron_variant BRCA-EU 14 56657338 56657355 deletion of <=200bp ATAGACTTTTTGTTGCTG - intron_variant BRCA-EU 14 56657783 56657783 single base substitution G T intron_variant BRCA-EU 14 56658950 56658950 single base substitution G A intron_variant BRCA-EU 14 56660037 56660037 single base substitution C G intron_variant BRCA-EU 14 56660396 56660396 single base substitution C G intron_variant BRCA-EU 14 56660921 56660921 single base substitution C T intron_variant BRCA-EU 14 56661051 56661051 single base substitution T A intron_variant BRCA-EU 14 56662452 56662452 single base substitution G A intron_variant BRCA-EU 14 56662511 56662511 deletion of <=200bp A - intron_variant BRCA-EU 14 56663467 56663467 single base substitution G A intron_variant BRCA-EU 14 56663972 56663972 single base substitution C T intron_variant BRCA-EU 14 56666887 56666887 single base substitution A G intron_variant BRCA-EU 14 56667671 56667671 deletion of <=200bp C - intron_variant BRCA-EU 14 56668825 56668825 single base substitution C G intron_variant BRCA-EU 14 56669508 56669508 single base substitution G C intron_variant BRCA-EU 14 56672657 56672657 insertion of <=200bp - T intron_variant BRCA-EU 14 56672743 56672743 single base substitution C T intron_variant BRCA-EU 14 56672905 56672905 single base substitution G C intron_variant BRCA-EU 14 56673267 56673267 single base substitution C G intron_variant BRCA-EU 14 56673323 56673323 single base substitution G C intron_variant BRCA-EU 14 56673431 56673431 single base substitution G T intron_variant BRCA-EU 14 56675511 56675511 single base substitution A C intron_variant BRCA-EU 14 56677127 56677127 single base substitution T A intron_variant BRCA-EU 14 56678297 56678297 single base substitution C T intron_variant BRCA-EU 14 56678488 56678488 single base substitution G A intron_variant BRCA-EU 14 56679551 56679551 single base substitution G T intron_variant BRCA-EU 14 56679890 56679890 single base substitution C G intron_variant BRCA-EU 14 56680281 56680281 single base substitution G C intron_variant BRCA-EU 14 56680813 56680813 single base substitution C T intron_variant BRCA-EU 14 56680899 56680899 single base substitution C G intron_variant BRCA-EU 14 56680919 56680919 single base substitution C A intron_variant BRCA-EU 14 56681684 56681684 single base substitution C T intron_variant BRCA-EU 14 56681848 56681848 single base substitution C T intron_variant BRCA-EU 14 56682230 56682230 single base substitution C G intron_variant BRCA-EU 14 56683458 56683458 single base substitution C T intron_variant BRCA-EU 14 56683621 56683621 single base substitution A T intron_variant BRCA-EU 14 56685900 56685903 deletion of <=200bp TGTT - intron_variant BRCA-EU 14 56688354 56688354 single base substitution G C intron_variant BRCA-EU 14 56689331 56689331 single base substitution A C intron_variant BRCA-EU 14 56689528 56689528 single base substitution T A intron_variant BRCA-EU 14 56689592 56689592 single base substitution C T intron_variant BRCA-EU 14 56689701 56689701 single base substitution G A intron_variant BRCA-EU 14 56690020 56690020 single base substitution T C intron_variant BRCA-EU 14 56690074 56690074 single base substitution G A intron_variant BRCA-EU 14 56690540 56690540 single base substitution T C intron_variant BRCA-EU 14 56690973 56690973 single base substitution T A intron_variant BRCA-EU 14 56691191 56691191 single base substitution G T intron_variant BRCA-EU 14 56691246 56691246 single base substitution C T intron_variant BRCA-EU 14 56692194 56692194 single base substitution C A intron_variant BRCA-EU 14 56693203 56693203 insertion of <=200bp - T intron_variant BRCA-EU 14 56695764 56695764 single base substitution G A intron_variant BRCA-EU 14 56695787 56695787 single base substitution G A intron_variant BRCA-EU 14 56696054 56696054 single base substitution C G intron_variant BRCA-EU 14 56696288 56696288 single base substitution C A intron_variant BRCA-EU 14 56697173 56697173 single base substitution T C intron_variant BRCA-EU 14 56699006 56699006 single base substitution C T intron_variant BRCA-EU 14 56699552 56699552 single base substitution T C intron_variant BRCA-EU 14 56700382 56700382 single base substitution G A intron_variant BRCA-EU 14 56701472 56701472 single base substitution T A intron_variant BRCA-EU 14 56701817 56701817 single base substitution C T intron_variant BRCA-EU 14 56702769 56702769 insertion of <=200bp - A intron_variant BRCA-EU 14 56703960 56703960 single base substitution G C intron_variant BRCA-EU 14 56704655 56704655 single base substitution C T intron_variant BRCA-EU 14 56706879 56706879 single base substitution G C intron_variant BRCA-EU 14 56708036 56708036 single base substitution G A intron_variant BRCA-EU 14 56708043 56708043 single base substitution A T intron_variant BRCA-EU 14 56709221 56709221 single base substitution T C intron_variant BRCA-EU 14 56709334 56709334 single base substitution A G intron_variant BRCA-EU 14 56711585 56711585 single base substitution T C intron_variant BRCA-EU 14 56711653 56711653 deletion of <=200bp T - intron_variant BRCA-EU 14 56711877 56711877 single base substitution T A intron_variant BRCA-EU 14 56713437 56713437 single base substitution G A intron_variant BRCA-EU 14 56714795 56714795 single base substitution C T intron_variant BRCA-EU 14 56715016 56715016 single base substitution G A intron_variant BRCA-EU 14 56715209 56715209 single base substitution G A intron_variant BRCA-EU 14 56716630 56716630 single base substitution G T intron_variant BRCA-EU 14 56717562 56717569 deletion of <=200bp TCAGTATT - intron_variant BRCA-EU 14 56717684 56717684 single base substitution C G intron_variant BRCA-EU 14 56718050 56718050 single base substitution T G intron_variant BRCA-EU 14 56719096 56719096 single base substitution C T intron_variant BRCA-EU 14 56719534 56719534 single base substitution C T intron_variant BRCA-EU 14 56720448 56720448 single base substitution G A intron_variant BRCA-EU 14 56720968 56720968 single base substitution T G intron_variant BRCA-EU 14 56722471 56722471 single base substitution T A intron_variant BRCA-EU 14 56723873 56723873 single base substitution A G intron_variant BRCA-EU 14 56724421 56724421 single base substitution C A intron_variant BRCA-EU 14 56724485 56724485 single base substitution C A intron_variant BRCA-EU 14 56725431 56725431 single base substitution G T intron_variant BRCA-EU 14 56725490 56725490 single base substitution G C intron_variant BRCA-EU 14 56725750 56725750 single base substitution G T intron_variant BRCA-EU 14 56728833 56728833 single base substitution G A intron_variant BRCA-EU 14 56729098 56729098 single base substitution C A intron_variant BRCA-EU 14 56729454 56729454 single base substitution T A intron_variant BRCA-EU 14 56729840 56729840 single base substitution A T intron_variant BRCA-EU 14 56729999 56729999 single base substitution A T intron_variant BRCA-EU 14 56731142 56731142 single base substitution G C intron_variant BRCA-EU 14 56732056 56732056 single base substitution A G intron_variant BRCA-EU 14 56733181 56733181 insertion of <=200bp - A intron_variant BRCA-EU 14 56733698 56733698 single base substitution C T intron_variant BRCA-EU 14 56733902 56733902 single base substitution G A intron_variant BRCA-EU 14 56733902 56733902 single base substitution G C intron_variant BRCA-EU 14 56734607 56734607 single base substitution C G intron_variant BRCA-EU 14 56736000 56736000 single base substitution A C intron_variant BRCA-EU 14 56736892 56736892 single base substitution C T intron_variant BRCA-EU 14 56737385 56737385 single base substitution C T intron_variant BRCA-EU 14 56738675 56738675 single base substitution G C intron_variant BRCA-EU 14 56740184 56740184 single base substitution A C intron_variant BRCA-EU 14 56741845 56741845 single base substitution G C intron_variant BRCA-EU 14 56742083 56742083 single base substitution G A intron_variant BRCA-EU 14 56743414 56743414 single base substitution C A intron_variant BRCA-EU 14 56746377 56746377 single base substitution T A intron_variant BRCA-EU 14 56746591 56746591 single base substitution G T intron_variant BRCA-EU 14 56746720 56746721 deletion of <=200bp AT - intron_variant BRCA-EU 14 56747241 56747241 single base substitution G C intron_variant BRCA-EU 14 56747563 56747563 single base substitution G C intron_variant BRCA-EU 14 56749110 56749110 single base substitution C G intron_variant BRCA-EU 14 56750700 56750700 single base substitution C T intron_variant BRCA-EU 14 56750961 56750961 single base substitution C A intron_variant BRCA-EU 14 56751022 56751022 single base substitution C G intron_variant BRCA-EU 14 56751499 56751499 single base substitution G A intron_variant BRCA-EU 14 56751781 56751781 single base substitution G A intron_variant BRCA-EU 14 56752596 56752596 single base substitution C T intron_variant BRCA-EU 14 56753459 56753459 insertion of <=200bp - T intron_variant BRCA-EU 14 56753725 56753725 single base substitution C G intron_variant BRCA-EU 14 56754010 56754010 single base substitution C T intron_variant BRCA-EU 14 56758190 56758190 single base substitution G A downstream_gene_variant BRCA-EU 14 56758190 56758190 single base substitution G A intron_variant BRCA-EU 14 56758235 56758235 deletion of <=200bp A - downstream_gene_variant BRCA-EU 14 56758235 56758235 deletion of <=200bp A - intron_variant BRCA-EU 14 56758815 56758815 single base substitution T C downstream_gene_variant BRCA-EU 14 56758815 56758815 single base substitution T C intron_variant BRCA-EU 14 56761534 56761534 single base substitution G A downstream_gene_variant BRCA-EU 14 56761534 56761534 single base substitution G A intron_variant BRCA-EU 14 56761889 56761889 single base substitution G C downstream_gene_variant BRCA-EU 14 56761889 56761889 single base substitution G C intron_variant BRCA-EU 14 56763803 56763803 single base substitution C T synonymous_variant H394H 1182C>T BRCA-EU 14 56764268 56764268 single base substitution G A 3_prime_UTR_variant BRCA-EU 14 56764819 56764819 single base substitution G A 3_prime_UTR_variant BRCA-EU 14 56765185 56765185 single base substitution T C 3_prime_UTR_variant BRCA-EU 14 56765434 56765434 single base substitution G A 3_prime_UTR_variant BRCA-EU 14 56767570 56767570 single base substitution C T 3_prime_UTR_variant BRCA-EU 14 56768500 56768500 single base substitution G C downstream_gene_variant BRCA-EU 14 56769123 56769123 single base substitution C A downstream_gene_variant BRCA-EU 14 56769124 56769124 single base substitution A G downstream_gene_variant BRCA-EU 14 56769204 56769204 single base substitution T A downstream_gene_variant BRCA-EU 14 56769447 56769447 single base substitution G T downstream_gene_variant BRCA-EU 14 56770630 56770630 single base substitution G C downstream_gene_variant BRCA-EU 14 56770877 56770877 single base substitution C T downstream_gene_variant BRCA-EU 14 56772343 56772343 single base substitution A G downstream_gene_variant BRCA-FR 14 56582500 56582500 single base substitution C T upstream_gene_variant BRCA-FR 14 56584890 56584890 single base substitution C G intron_variant BRCA-FR 14 56584890 56584890 single base substitution C G upstream_gene_variant BRCA-FR 14 56586569 56586569 single base substitution C T intron_variant BRCA-FR 14 56600255 56600255 single base substitution C G intron_variant BRCA-FR 14 56612955 56612955 single base substitution C T intron_variant BRCA-FR 14 56614286 56614286 single base substitution C A intron_variant BRCA-FR 14 56616376 56616376 single base substitution G C intron_variant BRCA-FR 14 56619031 56619031 single base substitution G C intron_variant BRCA-FR 14 56619573 56619573 single base substitution G A intron_variant BRCA-FR 14 56621361 56621361 single base substitution G A intron_variant BRCA-FR 14 56623298 56623298 single base substitution G T intron_variant BRCA-FR 14 56625133 56625133 single base substitution C T intron_variant BRCA-FR 14 56625373 56625373 single base substitution G A intron_variant BRCA-FR 14 56631652 56631652 single base substitution C G intron_variant BRCA-FR 14 56635195 56635195 single base substitution G T intron_variant BRCA-FR 14 56638555 56638555 single base substitution G A intron_variant BRCA-FR 14 56642058 56642058 single base substitution C T intron_variant BRCA-FR 14 56644792 56644792 single base substitution C T intron_variant BRCA-FR 14 56648510 56648510 single base substitution T A intron_variant BRCA-FR 14 56660037 56660037 single base substitution C G intron_variant BRCA-FR 14 56663467 56663467 single base substitution G A intron_variant BRCA-FR 14 56679551 56679551 single base substitution G T intron_variant BRCA-FR 14 56679890 56679890 single base substitution C G intron_variant BRCA-FR 14 56682230 56682230 single base substitution C G intron_variant BRCA-FR 14 56683122 56683122 single base substitution G C intron_variant BRCA-FR 14 56683458 56683458 single base substitution C T intron_variant BRCA-FR 14 56689761 56689761 single base substitution C A intron_variant BRCA-FR 14 56699911 56699911 single base substitution G C intron_variant BRCA-FR 14 56703960 56703960 single base substitution G C intron_variant BRCA-FR 14 56706879 56706879 single base substitution G C intron_variant BRCA-FR 14 56722471 56722471 single base substitution T A intron_variant BRCA-FR 14 56724421 56724421 single base substitution C A intron_variant BRCA-FR 14 56729098 56729098 single base substitution C A intron_variant BRCA-FR 14 56731142 56731142 single base substitution G C intron_variant BRCA-FR 14 56732171 56732171 single base substitution G A intron_variant BRCA-FR 14 56733902 56733902 single base substitution G C intron_variant BRCA-FR 14 56747241 56747241 single base substitution G C intron_variant BRCA-FR 14 56753725 56753725 single base substitution C G intron_variant BRCA-FR 14 56763803 56763803 single base substitution C T synonymous_variant H394H 1182C>T BRCA-UK 14 56584946 56584946 single base substitution C T intron_variant BRCA-UK 14 56584946 56584946 single base substitution C T upstream_gene_variant BRCA-UK 14 56666887 56666887 single base substitution A G intron_variant BRCA-UK 14 56695823 56695823 single base substitution C G intron_variant BRCA-UK 14 56708043 56708043 single base substitution A T intron_variant BRCA-UK 14 56712855 56712855 single base substitution C G intron_variant BRCA-UK 14 56735568 56735568 single base substitution C T intron_variant BRCA-UK 14 56743593 56743593 single base substitution C G intron_variant BRCA-UK 14 56745143 56745143 single base substitution C T intron_variant BRCA-UK 14 56745149 56745149 single base substitution C G intron_variant BRCA-UK 14 56758815 56758815 single base substitution T C downstream_gene_variant BRCA-UK 14 56758815 56758815 single base substitution T C intron_variant BRCA-US 14 56757079 56757079 single base substitution G A downstream_gene_variant BRCA-US 14 56757079 56757079 single base substitution G A missense_variant E201K 601G>A BRCA-US 14 56763422 56763422 single base substitution G C missense_variant Q267H 801G>C BRCA-US 14 56763462 56763462 single base substitution C T missense_variant R281W 841C>T BRCA-US 14 56763595 56763595 single base substitution G A missense_variant R325Q 974G>A BTCA-JP 14 56585418 56585418 single base substitution A T intron_variant BTCA-JP 14 56585418 56585418 single base substitution A T stop_gained K14* 40A>T BTCA-JP 14 56585418 56585418 single base substitution A T upstream_gene_variant BTCA-JP 14 56645088 56645088 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant BTCA-JP 14 56645088 56645088 single base substitution G T missense_variant R38L 113G>T BTCA-JP 14 56755435 56755435 single base substitution T A intron_variant BTCA-JP 14 56757046 56757046 single base substitution G A downstream_gene_variant BTCA-JP 14 56757046 56757046 single base substitution G A missense_variant V190I 568G>A BTCA-JP 14 56757046 56757046 single base substitution G A missense_variant V90I 268G>A BTCA-JP 14 56763564 56763564 single base substitution C A missense_variant H315N 943C>A BTCA-JP 14 56763566 56763566 single base substitution C A missense_variant H315Q 945C>A BTCA-JP 14 56763605 56763605 single base substitution G A synonymous_variant T328T 984G>A BTCA-JP 14 56763783 56763783 single base substitution C G missense_variant H388D 1162C>G CESC-US 14 56746461 56746461 single base substitution A G 5_prime_UTR_variant CESC-US 14 56746461 56746461 single base substitution A G missense_variant E92G 275A>G CLLE-ES 14 56596948 56596948 single base substitution G A intron_variant CLLE-ES 14 56601880 56601880 single base substitution A G intron_variant CLLE-ES 14 56640291 56640291 single base substitution T C intron_variant CLLE-ES 14 56640556 56640556 single base substitution A T intron_variant CLLE-ES 14 56642958 56642958 single base substitution C T intron_variant CLLE-ES 14 56650292 56650292 single base substitution G A intron_variant CLLE-ES 14 56679689 56679689 single base substitution C A intron_variant CLLE-ES 14 56679927 56679927 single base substitution A T intron_variant CLLE-ES 14 56681239 56681239 single base substitution C A intron_variant CLLE-ES 14 56681839 56681839 single base substitution T C intron_variant CLLE-ES 14 56692352 56692352 single base substitution G A intron_variant CLLE-ES 14 56693982 56693982 single base substitution A C intron_variant CLLE-ES 14 56713208 56713208 single base substitution C A intron_variant CLLE-ES 14 56756915 56756915 single base substitution G T intron_variant COAD-US 14 56645166 56645166 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant COAD-US 14 56645166 56645166 single base substitution C T missense_variant T64M 191C>T COCA-CN 14 56582549 56582549 single base substitution A G upstream_gene_variant COCA-CN 14 56645133 56645133 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant COCA-CN 14 56645133 56645133 single base substitution G A missense_variant G53D 158G>A COCA-CN 14 56746437 56746437 single base substitution C A 5_prime_UTR_variant COCA-CN 14 56746437 56746437 single base substitution C A stop_gained S84* 251C>A EOPC-DE 14 56663499 56663499 single base substitution T C intron_variant EOPC-DE 14 56680271 56680271 single base substitution C T intron_variant EOPC-DE 14 56695365 56695365 single base substitution T C intron_variant ESAD-UK 14 56579788 56579788 single base substitution C A upstream_gene_variant ESAD-UK 14 56581130 56581130 deletion of <=200bp T - upstream_gene_variant ESAD-UK 14 56581723 56581723 single base substitution C T upstream_gene_variant ESAD-UK 14 56582447 56582447 single base substitution G A upstream_gene_variant ESAD-UK 14 56586104 56586104 single base substitution A T intron_variant ESAD-UK 14 56586394 56586394 single base substitution C T intron_variant ESAD-UK 14 56586519 56586519 single base substitution A G intron_variant ESAD-UK 14 56588725 56588725 single base substitution G A intron_variant ESAD-UK 14 56589799 56589799 single base substitution C T intron_variant ESAD-UK 14 56598216 56598216 single base substitution C A intron_variant ESAD-UK 14 56601486 56601486 single base substitution C T intron_variant ESAD-UK 14 56603072 56603072 single base substitution C T intron_variant ESAD-UK 14 56603243 56603243 single base substitution T G intron_variant ESAD-UK 14 56603883 56603883 single base substitution T C intron_variant ESAD-UK 14 56605089 56605089 single base substitution A G intron_variant ESAD-UK 14 56608067 56608067 single base substitution C T intron_variant ESAD-UK 14 56608137 56608137 single base substitution C T intron_variant ESAD-UK 14 56609175 56609175 single base substitution C A intron_variant ESAD-UK 14 56609895 56609895 single base substitution C T intron_variant ESAD-UK 14 56612027 56612027 deletion of <=200bp C - intron_variant ESAD-UK 14 56613410 56613410 single base substitution C T intron_variant ESAD-UK 14 56614030 56614030 single base substitution T G intron_variant ESAD-UK 14 56621683 56621683 single base substitution T A intron_variant ESAD-UK 14 56622808 56622808 single base substitution C T intron_variant ESAD-UK 14 56622845 56622845 single base substitution A T intron_variant ESAD-UK 14 56623329 56623329 single base substitution T G intron_variant ESAD-UK 14 56624252 56624252 single base substitution C T intron_variant ESAD-UK 14 56625392 56625392 single base substitution C A intron_variant ESAD-UK 14 56625660 56625660 single base substitution C T intron_variant ESAD-UK 14 56627313 56627313 single base substitution T A intron_variant ESAD-UK 14 56627424 56627424 single base substitution T G intron_variant ESAD-UK 14 56628750 56628750 single base substitution G A intron_variant ESAD-UK 14 56629356 56629356 single base substitution T G intron_variant ESAD-UK 14 56629539 56629539 single base substitution T G intron_variant ESAD-UK 14 56629859 56629859 single base substitution A C intron_variant ESAD-UK 14 56630234 56630234 single base substitution G A intron_variant ESAD-UK 14 56630251 56630251 single base substitution T G intron_variant ESAD-UK 14 56631409 56631409 single base substitution T C intron_variant ESAD-UK 14 56631693 56631693 single base substitution T A intron_variant ESAD-UK 14 56632706 56632706 single base substitution C A intron_variant ESAD-UK 14 56632800 56632800 single base substitution G A intron_variant ESAD-UK 14 56633474 56633474 single base substitution G A intron_variant ESAD-UK 14 56633493 56633493 single base substitution G T intron_variant ESAD-UK 14 56633683 56633683 insertion of <=200bp - T intron_variant ESAD-UK 14 56634247 56634247 single base substitution C A intron_variant ESAD-UK 14 56635505 56635505 single base substitution A C intron_variant ESAD-UK 14 56635803 56635803 single base substitution C G intron_variant ESAD-UK 14 56636492 56636492 single base substitution G A intron_variant ESAD-UK 14 56637801 56637801 single base substitution G A intron_variant ESAD-UK 14 56639702 56639702 single base substitution G T intron_variant ESAD-UK 14 56640474 56640474 single base substitution C A intron_variant ESAD-UK 14 56642479 56642479 single base substitution A T intron_variant ESAD-UK 14 56643017 56643017 single base substitution C T intron_variant ESAD-UK 14 56644192 56644192 single base substitution G A intron_variant ESAD-UK 14 56644262 56644262 single base substitution C T intron_variant ESAD-UK 14 56645833 56645833 single base substitution G C intron_variant ESAD-UK 14 56647265 56647265 single base substitution C T intron_variant ESAD-UK 14 56648432 56648432 single base substitution T G intron_variant ESAD-UK 14 56649011 56649011 single base substitution G C intron_variant ESAD-UK 14 56650625 56650625 single base substitution C T intron_variant ESAD-UK 14 56651390 56651390 single base substitution G A intron_variant ESAD-UK 14 56652632 56652632 single base substitution A C intron_variant ESAD-UK 14 56654009 56654009 insertion of <=200bp - T intron_variant ESAD-UK 14 56656572 56656572 single base substitution A C intron_variant ESAD-UK 14 56656952 56656952 single base substitution C T intron_variant ESAD-UK 14 56659383 56659383 single base substitution C T intron_variant ESAD-UK 14 56660157 56660157 single base substitution A C intron_variant ESAD-UK 14 56660256 56660256 single base substitution A C intron_variant ESAD-UK 14 56662634 56662634 single base substitution G C intron_variant ESAD-UK 14 56662950 56662950 single base substitution T C intron_variant ESAD-UK 14 56663542 56663542 single base substitution G A intron_variant ESAD-UK 14 56665752 56665752 single base substitution C T intron_variant ESAD-UK 14 56666278 56666278 single base substitution T G intron_variant ESAD-UK 14 56666902 56666902 single base substitution C A intron_variant ESAD-UK 14 56668042 56668042 insertion of <=200bp - T intron_variant ESAD-UK 14 56668393 56668393 single base substitution G A intron_variant ESAD-UK 14 56668522 56668522 single base substitution T G intron_variant ESAD-UK 14 56668578 56668578 single base substitution T C intron_variant ESAD-UK 14 56668593 56668593 single base substitution T G intron_variant ESAD-UK 14 56669866 56669866 single base substitution C T intron_variant ESAD-UK 14 56671391 56671391 single base substitution C A intron_variant ESAD-UK 14 56673423 56673423 deletion of <=200bp T - intron_variant ESAD-UK 14 56673423 56673423 insertion of <=200bp - T intron_variant ESAD-UK 14 56677649 56677649 single base substitution T C intron_variant ESAD-UK 14 56678143 56678143 single base substitution C T intron_variant ESAD-UK 14 56678488 56678488 single base substitution G A intron_variant ESAD-UK 14 56679420 56679420 single base substitution C T intron_variant ESAD-UK 14 56679708 56679708 single base substitution G T intron_variant ESAD-UK 14 56680476 56680476 single base substitution T C intron_variant ESAD-UK 14 56680631 56680631 single base substitution G A intron_variant ESAD-UK 14 56682066 56682066 single base substitution C T intron_variant ESAD-UK 14 56682886 56682886 single base substitution G A intron_variant ESAD-UK 14 56686232 56686232 single base substitution C A intron_variant ESAD-UK 14 56687579 56687579 single base substitution T C intron_variant ESAD-UK 14 56687654 56687654 single base substitution T G intron_variant ESAD-UK 14 56687760 56687760 single base substitution C A intron_variant ESAD-UK 14 56688157 56688157 single base substitution C T intron_variant ESAD-UK 14 56688568 56688568 single base substitution A C intron_variant ESAD-UK 14 56689708 56689708 single base substitution C G intron_variant ESAD-UK 14 56692071 56692071 single base substitution T C intron_variant ESAD-UK 14 56695492 56695492 single base substitution G A intron_variant ESAD-UK 14 56697984 56697984 single base substitution C A intron_variant ESAD-UK 14 56698604 56698604 deletion of <=200bp A - intron_variant ESAD-UK 14 56700091 56700091 single base substitution A C intron_variant ESAD-UK 14 56701098 56701098 single base substitution A T intron_variant ESAD-UK 14 56701474 56701474 single base substitution A T intron_variant ESAD-UK 14 56701475 56701475 single base substitution A T intron_variant ESAD-UK 14 56702159 56702159 single base substitution G C intron_variant ESAD-UK 14 56703596 56703596 single base substitution A G intron_variant ESAD-UK 14 56704319 56704319 single base substitution T A intron_variant ESAD-UK 14 56704523 56704523 single base substitution G T intron_variant ESAD-UK 14 56706645 56706645 single base substitution A C intron_variant ESAD-UK 14 56707035 56707035 single base substitution G C intron_variant ESAD-UK 14 56709393 56709393 single base substitution A C intron_variant ESAD-UK 14 56711028 56711028 single base substitution C G intron_variant ESAD-UK 14 56712123 56712123 single base substitution A G intron_variant ESAD-UK 14 56714480 56714480 single base substitution C G intron_variant ESAD-UK 14 56715091 56715091 single base substitution T C intron_variant ESAD-UK 14 56716309 56716309 deletion of <=200bp A - intron_variant ESAD-UK 14 56717974 56717974 single base substitution T C intron_variant ESAD-UK 14 56718271 56718271 single base substitution G A intron_variant ESAD-UK 14 56718390 56718390 single base substitution G A intron_variant ESAD-UK 14 56719041 56719041 single base substitution A G intron_variant ESAD-UK 14 56719305 56719305 single base substitution A C intron_variant ESAD-UK 14 56721168 56721168 single base substitution G A intron_variant ESAD-UK 14 56722172 56722172 single base substitution G T intron_variant ESAD-UK 14 56723952 56723952 single base substitution G A intron_variant ESAD-UK 14 56726435 56726435 single base substitution C T intron_variant ESAD-UK 14 56727875 56727875 single base substitution C T intron_variant ESAD-UK 14 56728659 56728659 single base substitution C T intron_variant ESAD-UK 14 56729820 56729820 single base substitution G A intron_variant ESAD-UK 14 56731835 56731835 single base substitution T A intron_variant ESAD-UK 14 56734069 56734069 single base substitution A T intron_variant ESAD-UK 14 56734501 56734501 deletion of <=200bp T - intron_variant ESAD-UK 14 56735305 56735305 single base substitution C A intron_variant ESAD-UK 14 56735732 56735732 single base substitution A G intron_variant ESAD-UK 14 56736560 56736560 single base substitution G T intron_variant ESAD-UK 14 56740815 56740815 single base substitution G A intron_variant ESAD-UK 14 56741809 56741812 deletion of <=200bp TTCG - intron_variant ESAD-UK 14 56742225 56742225 single base substitution G A intron_variant ESAD-UK 14 56746102 56746102 single base substitution T G intron_variant ESAD-UK 14 56747201 56747201 single base substitution T G intron_variant ESAD-UK 14 56747337 56747337 single base substitution C G intron_variant ESAD-UK 14 56747415 56747415 single base substitution G T intron_variant ESAD-UK 14 56748997 56748997 single base substitution T A intron_variant ESAD-UK 14 56749335 56749335 single base substitution C A intron_variant ESAD-UK 14 56749795 56749795 single base substitution C A intron_variant ESAD-UK 14 56750795 56750795 single base substitution G A intron_variant ESAD-UK 14 56751451 56751451 single base substitution C T intron_variant ESAD-UK 14 56753899 56753899 single base substitution T G intron_variant ESAD-UK 14 56754776 56754776 single base substitution C T intron_variant ESAD-UK 14 56758556 56758556 single base substitution G T downstream_gene_variant ESAD-UK 14 56758556 56758556 single base substitution G T intron_variant ESAD-UK 14 56761484 56761484 single base substitution C T downstream_gene_variant ESAD-UK 14 56761484 56761484 single base substitution C T intron_variant ESAD-UK 14 56761489 56761489 single base substitution G A downstream_gene_variant ESAD-UK 14 56761489 56761489 single base substitution G A intron_variant ESAD-UK 14 56761658 56761658 single base substitution C T downstream_gene_variant ESAD-UK 14 56761658 56761658 single base substitution C T intron_variant ESAD-UK 14 56762064 56762064 insertion of <=200bp - C intron_variant ESAD-UK 14 56762455 56762455 single base substitution A C intron_variant ESAD-UK 14 56763407 56763407 single base substitution T G missense_variant F262L 786T>G ESAD-UK 14 56763552 56763552 single base substitution C A missense_variant L311I 931C>A ESAD-UK 14 56764616 56764616 single base substitution C T 3_prime_UTR_variant ESAD-UK 14 56765278 56765278 deletion of <=200bp T - 3_prime_UTR_variant ESAD-UK 14 56765490 56765490 single base substitution G T 3_prime_UTR_variant ESAD-UK 14 56766676 56766676 single base substitution A C 3_prime_UTR_variant ESAD-UK 14 56768785 56768785 single base substitution C A downstream_gene_variant ESAD-UK 14 56769065 56769065 single base substitution G C downstream_gene_variant ESAD-UK 14 56770931 56770931 single base substitution C T downstream_gene_variant ESAD-UK 14 56771776 56771776 single base substitution C T downstream_gene_variant ESAD-UK 14 56772827 56772827 single base substitution G A downstream_gene_variant ESCA-CN 14 56763461 56763461 single base substitution C T synonymous_variant A280A 840C>T ESCA-CN 14 56763604 56763604 single base substitution C T missense_variant T328M 983C>T GACA-CN 14 56757014 56757014 single base substitution A C downstream_gene_variant GACA-CN 14 56757014 56757014 single base substitution A C missense_variant D179A 536A>C GACA-CN 14 56757014 56757014 single base substitution A C missense_variant D79A 236A>C KIRC-US 14 56746421 56746421 single base substitution A G 5_prime_UTR_variant KIRC-US 14 56746421 56746421 single base substitution A G missense_variant I79V 235A>G KIRC-US 14 56757030 56757030 single base substitution G T downstream_gene_variant KIRC-US 14 56757030 56757030 single base substitution G T synonymous_variant G184G 552G>T KIRC-US 14 56757030 56757030 single base substitution G T synonymous_variant G84G 252G>T KIRC-US 14 56757051 56757051 single base substitution G T downstream_gene_variant KIRC-US 14 56757051 56757051 single base substitution G T synonymous_variant L191L 573G>T KIRC-US 14 56757051 56757051 single base substitution G T synonymous_variant L91L 273G>T KIRC-US 14 56757052 56757052 single base substitution G T downstream_gene_variant KIRC-US 14 56757052 56757052 single base substitution G T missense_variant V192L 574G>T KIRC-US 14 56757052 56757052 single base substitution G T missense_variant V92L 274G>T LAML-KR 14 56688763 56688763 single base substitution A T intron_variant LIAD-FR 14 56645100 56645100 single base substitution G A 5_prime_UTR_variant LIAD-FR 14 56645100 56645100 single base substitution G A missense_variant R42K 125G>A LICA-FR 14 56581657 56581657 single base substitution T C upstream_gene_variant LICA-FR 14 56597476 56597476 single base substitution G T intron_variant LICA-FR 14 56603072 56603072 single base substitution C T intron_variant LICA-FR 14 56604706 56604706 single base substitution G T intron_variant LICA-FR 14 56622725 56622725 single base substitution A G intron_variant LICA-FR 14 56628077 56628077 single base substitution T C intron_variant LICA-FR 14 56632573 56632573 single base substitution G T intron_variant LICA-FR 14 56640114 56640114 insertion of <=200bp - T intron_variant LICA-FR 14 56640675 56640675 single base substitution A T intron_variant LICA-FR 14 56645113 56645113 single base substitution C A 5_prime_UTR_variant LICA-FR 14 56645113 56645113 single base substitution C A stop_gained Y46* 138C>A LICA-FR 14 56648360 56648360 single base substitution C A intron_variant LICA-FR 14 56648588 56648588 single base substitution G T intron_variant LICA-FR 14 56652057 56652057 single base substitution C A intron_variant LICA-FR 14 56658736 56658736 single base substitution C G intron_variant LICA-FR 14 56662452 56662452 single base substitution G A intron_variant LICA-FR 14 56688208 56688208 single base substitution C A intron_variant LICA-FR 14 56688908 56688908 single base substitution T A intron_variant LICA-FR 14 56689875 56689875 deletion of <=200bp T - intron_variant LICA-FR 14 56711861 56711861 single base substitution C G intron_variant LICA-FR 14 56730067 56730067 single base substitution A G intron_variant LICA-FR 14 56731297 56731297 insertion of <=200bp - A intron_variant LICA-FR 14 56740230 56740230 single base substitution A G intron_variant LICA-FR 14 56753442 56753442 single base substitution G A intron_variant LICA-FR 14 56755184 56755184 single base substitution C T synonymous_variant D113D 339C>T LICA-FR 14 56755184 56755184 single base substitution C T synonymous_variant D13D 39C>T LICA-FR 14 56755649 56755649 single base substitution A G intron_variant LICA-FR 14 56757030 56757030 single base substitution G T downstream_gene_variant LICA-FR 14 56757030 56757030 single base substitution G T synonymous_variant G184G 552G>T LICA-FR 14 56757030 56757030 single base substitution G T synonymous_variant G84G 252G>T LICA-FR 14 56768162 56768162 single base substitution A G 3_prime_UTR_variant LIHC-US 14 56746414 56746414 single base substitution A G 5_prime_UTR_variant LIHC-US 14 56746414 56746414 single base substitution A G synonymous_variant Q76Q 228A>G LINC-JP 14 56579997 56579997 single base substitution C G upstream_gene_variant LINC-JP 14 56595382 56595382 single base substitution G A intron_variant LINC-JP 14 56595386 56595386 single base substitution G A intron_variant LINC-JP 14 56613194 56613194 insertion of <=200bp - ACTGTA intron_variant LINC-JP 14 56623351 56623351 single base substitution A G intron_variant LINC-JP 14 56634291 56634291 single base substitution T A intron_variant LINC-JP 14 56647250 56647250 single base substitution A G intron_variant LINC-JP 14 56647392 56647392 single base substitution G A intron_variant LINC-JP 14 56649070 56649070 single base substitution C T intron_variant LINC-JP 14 56653707 56653707 single base substitution A G intron_variant LINC-JP 14 56655002 56655002 single base substitution G A intron_variant LINC-JP 14 56675977 56675977 single base substitution T C intron_variant LINC-JP 14 56676550 56676550 single base substitution A G intron_variant LINC-JP 14 56677322 56677322 single base substitution A G intron_variant LINC-JP 14 56682925 56682925 single base substitution G A intron_variant LINC-JP 14 56685850 56685850 single base substitution T G intron_variant LINC-JP 14 56706366 56706366 single base substitution A G intron_variant LINC-JP 14 56711926 56711926 single base substitution T C intron_variant LINC-JP 14 56716673 56716673 single base substitution C A intron_variant LINC-JP 14 56721615 56721615 single base substitution A G intron_variant LINC-JP 14 56735177 56735177 single base substitution G C intron_variant LINC-JP 14 56745181 56745181 single base substitution T C intron_variant LINC-JP 14 56746021 56746021 single base substitution T G intron_variant LINC-JP 14 56746399 56746399 single base substitution C T 5_prime_UTR_variant LINC-JP 14 56746399 56746399 single base substitution C T synonymous_variant I71I 213C>T LINC-JP 14 56748810 56748810 single base substitution C T intron_variant LINC-JP 14 56749400 56749400 single base substitution G A intron_variant LINC-JP 14 56752850 56752850 single base substitution C T intron_variant LINC-JP 14 56755435 56755435 single base substitution T A intron_variant LINC-JP 14 56760265 56760265 single base substitution G C downstream_gene_variant LINC-JP 14 56760265 56760265 single base substitution G C intron_variant LINC-JP 14 56767657 56767657 single base substitution C A 3_prime_UTR_variant LINC-JP 14 56771799 56771799 single base substitution T C downstream_gene_variant LIRI-JP 14 56583239 56583239 single base substitution A G upstream_gene_variant LIRI-JP 14 56583387 56583387 single base substitution A G upstream_gene_variant LIRI-JP 14 56583512 56583512 single base substitution G A upstream_gene_variant LIRI-JP 14 56583662 56583662 single base substitution T A upstream_gene_variant LIRI-JP 14 56583664 56583664 single base substitution T A upstream_gene_variant LIRI-JP 14 56587894 56587894 single base substitution C T intron_variant LIRI-JP 14 56589018 56589018 single base substitution G T intron_variant LIRI-JP 14 56594494 56594494 single base substitution G C intron_variant LIRI-JP 14 56594993 56594993 single base substitution G C intron_variant LIRI-JP 14 56595249 56595249 single base substitution A C intron_variant LIRI-JP 14 56595842 56595842 single base substitution G A intron_variant LIRI-JP 14 56596585 56596585 single base substitution A T intron_variant LIRI-JP 14 56598337 56598337 single base substitution A T intron_variant LIRI-JP 14 56598454 56598454 single base substitution T G intron_variant LIRI-JP 14 56599769 56599769 single base substitution A T intron_variant LIRI-JP 14 56601203 56601203 single base substitution T A intron_variant LIRI-JP 14 56601428 56601428 single base substitution A C intron_variant LIRI-JP 14 56604425 56604425 single base substitution G T intron_variant LIRI-JP 14 56604703 56604703 single base substitution G A intron_variant LIRI-JP 14 56604812 56604812 single base substitution C A intron_variant LIRI-JP 14 56607955 56607955 single base substitution C T intron_variant LIRI-JP 14 56608684 56608684 single base substitution A G intron_variant LIRI-JP 14 56609011 56609011 single base substitution A G intron_variant LIRI-JP 14 56609381 56609381 single base substitution A G intron_variant LIRI-JP 14 56610893 56610893 single base substitution G T intron_variant LIRI-JP 14 56610894 56610894 single base substitution G T intron_variant LIRI-JP 14 56611494 56611494 single base substitution G A intron_variant LIRI-JP 14 56613032 56613032 single base substitution C A intron_variant LIRI-JP 14 56613742 56613742 single base substitution A T intron_variant LIRI-JP 14 56613760 56613760 single base substitution G A intron_variant LIRI-JP 14 56614482 56614482 single base substitution A T intron_variant LIRI-JP 14 56614952 56614952 single base substitution C T intron_variant LIRI-JP 14 56615027 56615027 single base substitution T C intron_variant LIRI-JP 14 56615078 56615078 single base substitution G A intron_variant LIRI-JP 14 56616576 56616576 single base substitution A G intron_variant LIRI-JP 14 56617005 56617005 single base substitution A G intron_variant LIRI-JP 14 56617379 56617379 single base substitution G C intron_variant LIRI-JP 14 56618669 56618669 single base substitution G C intron_variant LIRI-JP 14 56619876 56619876 single base substitution A G intron_variant LIRI-JP 14 56621914 56621914 single base substitution A G intron_variant LIRI-JP 14 56622366 56622366 single base substitution C T intron_variant LIRI-JP 14 56623076 56623076 single base substitution C A intron_variant LIRI-JP 14 56624507 56624507 single base substitution A G intron_variant LIRI-JP 14 56625822 56625822 single base substitution A G intron_variant LIRI-JP 14 56627536 56627536 single base substitution A T intron_variant LIRI-JP 14 56627783 56627783 single base substitution T C intron_variant LIRI-JP 14 56629340 56629340 single base substitution A G intron_variant LIRI-JP 14 56632579 56632579 single base substitution A G intron_variant LIRI-JP 14 56632856 56632856 single base substitution T C intron_variant LIRI-JP 14 56636237 56636237 single base substitution C T intron_variant LIRI-JP 14 56636666 56636666 single base substitution C A intron_variant LIRI-JP 14 56638991 56638991 single base substitution C T intron_variant LIRI-JP 14 56639139 56639139 single base substitution A G intron_variant LIRI-JP 14 56639376 56639376 single base substitution G A intron_variant LIRI-JP 14 56639416 56639416 single base substitution G A intron_variant LIRI-JP 14 56639524 56639524 single base substitution G C intron_variant LIRI-JP 14 56640433 56640433 single base substitution C T intron_variant LIRI-JP 14 56641122 56641122 single base substitution A G intron_variant LIRI-JP 14 56641911 56641911 single base substitution G T intron_variant LIRI-JP 14 56642852 56642852 single base substitution C T intron_variant LIRI-JP 14 56643192 56643192 single base substitution G A intron_variant LIRI-JP 14 56644895 56644895 single base substitution G C intron_variant LIRI-JP 14 56647984 56647984 single base substitution T A intron_variant LIRI-JP 14 56648710 56648710 single base substitution C T intron_variant LIRI-JP 14 56649230 56649230 single base substitution A G intron_variant LIRI-JP 14 56650050 56650050 single base substitution A G intron_variant LIRI-JP 14 56650751 56650751 single base substitution A G intron_variant LIRI-JP 14 56654033 56654033 single base substitution G A intron_variant LIRI-JP 14 56655890 56655890 single base substitution T A intron_variant LIRI-JP 14 56655892 56655892 single base substitution A G intron_variant LIRI-JP 14 56656637 56656637 single base substitution G A intron_variant LIRI-JP 14 56657424 56657424 single base substitution T C intron_variant LIRI-JP 14 56658125 56658125 single base substitution T A intron_variant LIRI-JP 14 56658420 56658420 single base substitution G T intron_variant LIRI-JP 14 56659341 56659341 single base substitution A C intron_variant LIRI-JP 14 56659850 56659850 single base substitution A G intron_variant LIRI-JP 14 56660581 56660581 single base substitution G A intron_variant LIRI-JP 14 56661156 56661156 single base substitution A G intron_variant LIRI-JP 14 56661751 56661751 single base substitution C A intron_variant LIRI-JP 14 56661827 56661827 single base substitution A G intron_variant LIRI-JP 14 56662178 56662178 single base substitution A G intron_variant LIRI-JP 14 56662824 56662824 single base substitution T G intron_variant LIRI-JP 14 56663447 56663447 single base substitution C T intron_variant LIRI-JP 14 56663802 56663802 single base substitution C T intron_variant LIRI-JP 14 56664346 56664346 single base substitution A G intron_variant LIRI-JP 14 56665127 56665127 single base substitution G A intron_variant LIRI-JP 14 56665973 56665973 single base substitution T C intron_variant LIRI-JP 14 56666183 56666183 single base substitution C T intron_variant LIRI-JP 14 56666887 56666887 single base substitution A T intron_variant LIRI-JP 14 56670754 56670754 deletion of <=200bp C - intron_variant LIRI-JP 14 56671363 56671363 single base substitution A G intron_variant LIRI-JP 14 56671459 56671459 single base substitution G T intron_variant LIRI-JP 14 56672762 56672762 single base substitution G A intron_variant LIRI-JP 14 56673364 56673364 single base substitution C T intron_variant LIRI-JP 14 56676082 56676082 single base substitution C T intron_variant LIRI-JP 14 56676332 56676332 single base substitution A G intron_variant LIRI-JP 14 56676356 56676356 single base substitution G A intron_variant LIRI-JP 14 56677615 56677615 single base substitution A T intron_variant LIRI-JP 14 56677852 56677852 single base substitution G T intron_variant LIRI-JP 14 56678344 56678344 single base substitution G C intron_variant LIRI-JP 14 56678456 56678456 single base substitution G T intron_variant LIRI-JP 14 56678469 56678469 single base substitution G C intron_variant LIRI-JP 14 56678757 56678757 single base substitution C T intron_variant LIRI-JP 14 56678827 56678827 single base substitution G C intron_variant LIRI-JP 14 56678856 56678856 single base substitution G A intron_variant LIRI-JP 14 56680459 56680459 single base substitution A G intron_variant LIRI-JP 14 56681870 56681870 single base substitution T C intron_variant LIRI-JP 14 56682150 56682150 single base substitution A T intron_variant LIRI-JP 14 56682500 56682500 single base substitution T C intron_variant LIRI-JP 14 56683354 56683354 single base substitution G T intron_variant LIRI-JP 14 56683552 56683552 single base substitution C T intron_variant LIRI-JP 14 56686359 56686359 single base substitution G A intron_variant LIRI-JP 14 56686730 56686730 single base substitution T C intron_variant LIRI-JP 14 56687261 56687261 single base substitution C A intron_variant LIRI-JP 14 56687274 56687274 single base substitution G T intron_variant LIRI-JP 14 56687938 56687938 single base substitution G T intron_variant LIRI-JP 14 56688503 56688503 single base substitution C A intron_variant LIRI-JP 14 56689319 56689319 single base substitution T C intron_variant LIRI-JP 14 56689774 56689774 single base substitution A T intron_variant LIRI-JP 14 56690419 56690419 single base substitution T A intron_variant LIRI-JP 14 56690570 56690571 deletion of <=200bp AA - intron_variant LIRI-JP 14 56691549 56691549 single base substitution T G intron_variant LIRI-JP 14 56691564 56691564 single base substitution C T intron_variant LIRI-JP 14 56691920 56691920 single base substitution C A intron_variant LIRI-JP 14 56692187 56692187 single base substitution G C intron_variant LIRI-JP 14 56692949 56692949 insertion of <=200bp - CC intron_variant LIRI-JP 14 56693448 56693448 single base substitution T A intron_variant LIRI-JP 14 56693990 56693991 deletion of <=200bp GT - intron_variant LIRI-JP 14 56694068 56694068 single base substitution T C intron_variant LIRI-JP 14 56694069 56694069 single base substitution G T intron_variant LIRI-JP 14 56694766 56694766 single base substitution C G intron_variant LIRI-JP 14 56695438 56695438 single base substitution C T intron_variant LIRI-JP 14 56695597 56695597 single base substitution A G intron_variant LIRI-JP 14 56696909 56696909 single base substitution G A intron_variant LIRI-JP 14 56696926 56696926 single base substitution T C intron_variant LIRI-JP 14 56697420 56697420 single base substitution A T intron_variant LIRI-JP 14 56697704 56697704 single base substitution C T intron_variant LIRI-JP 14 56697774 56697774 single base substitution C A intron_variant LIRI-JP 14 56699677 56699677 single base substitution A G intron_variant LIRI-JP 14 56700047 56700047 single base substitution G C intron_variant LIRI-JP 14 56700337 56700337 single base substitution G C intron_variant LIRI-JP 14 56701531 56701531 single base substitution G A intron_variant LIRI-JP 14 56702261 56702261 single base substitution G A intron_variant LIRI-JP 14 56705706 56705721 deletion of <=200bp TATTGTTAATGTTGAA - intron_variant LIRI-JP 14 56705881 56705881 single base substitution A G intron_variant LIRI-JP 14 56706018 56706018 single base substitution A G intron_variant LIRI-JP 14 56706491 56706491 single base substitution A G intron_variant LIRI-JP 14 56706756 56706756 single base substitution C T intron_variant LIRI-JP 14 56707073 56707073 single base substitution C G intron_variant LIRI-JP 14 56707615 56707615 single base substitution T C intron_variant LIRI-JP 14 56707744 56707744 single base substitution A T intron_variant LIRI-JP 14 56711222 56711222 single base substitution G T intron_variant LIRI-JP 14 56711457 56711457 single base substitution C A intron_variant LIRI-JP 14 56712046 56712046 single base substitution A C intron_variant LIRI-JP 14 56712336 56712336 single base substitution G T intron_variant LIRI-JP 14 56713379 56713379 single base substitution A G intron_variant LIRI-JP 14 56713994 56713994 single base substitution T C intron_variant LIRI-JP 14 56714184 56714184 single base substitution A G intron_variant LIRI-JP 14 56715736 56715736 single base substitution C T intron_variant LIRI-JP 14 56715832 56715832 single base substitution T C intron_variant LIRI-JP 14 56717693 56717693 single base substitution A C intron_variant LIRI-JP 14 56719280 56719280 single base substitution C T intron_variant LIRI-JP 14 56719912 56719912 single base substitution T A intron_variant LIRI-JP 14 56720001 56720001 single base substitution G C intron_variant LIRI-JP 14 56721738 56721738 single base substitution G T intron_variant LIRI-JP 14 56722056 56722056 single base substitution G T intron_variant LIRI-JP 14 56722948 56722948 single base substitution C A intron_variant LIRI-JP 14 56723098 56723098 single base substitution A T intron_variant LIRI-JP 14 56724762 56724762 single base substitution G T intron_variant LIRI-JP 14 56726215 56726215 single base substitution C A intron_variant LIRI-JP 14 56726614 56726614 single base substitution T A intron_variant LIRI-JP 14 56726615 56726615 single base substitution G T intron_variant LIRI-JP 14 56727120 56727120 single base substitution A G intron_variant LIRI-JP 14 56727957 56727957 single base substitution C T intron_variant LIRI-JP 14 56728213 56728213 single base substitution C A intron_variant LIRI-JP 14 56728586 56728586 single base substitution T G intron_variant LIRI-JP 14 56731808 56731808 single base substitution A G intron_variant LIRI-JP 14 56731962 56731962 single base substitution A T intron_variant LIRI-JP 14 56733595 56733595 single base substitution T C intron_variant LIRI-JP 14 56734054 56734054 single base substitution A G intron_variant LIRI-JP 14 56734510 56734510 single base substitution A G intron_variant LIRI-JP 14 56735841 56735841 single base substitution A C intron_variant LIRI-JP 14 56736321 56736321 single base substitution G C intron_variant LIRI-JP 14 56736705 56736705 single base substitution C A intron_variant LIRI-JP 14 56737067 56737067 single base substitution G A intron_variant LIRI-JP 14 56737138 56737138 single base substitution A G intron_variant LIRI-JP 14 56737941 56737941 single base substitution C T intron_variant LIRI-JP 14 56738491 56738491 single base substitution C T intron_variant LIRI-JP 14 56740269 56740269 single base substitution T C intron_variant LIRI-JP 14 56740617 56740617 single base substitution G T intron_variant LIRI-JP 14 56742937 56742937 single base substitution T A intron_variant LIRI-JP 14 56745106 56745106 single base substitution A G intron_variant LIRI-JP 14 56745192 56745192 single base substitution G A intron_variant LIRI-JP 14 56747224 56747224 single base substitution A C intron_variant LIRI-JP 14 56748166 56748166 single base substitution A G intron_variant LIRI-JP 14 56749461 56749461 single base substitution T C intron_variant LIRI-JP 14 56751898 56751898 single base substitution C A intron_variant LIRI-JP 14 56752009 56752009 single base substitution A G intron_variant LIRI-JP 14 56752517 56752517 single base substitution T C intron_variant LIRI-JP 14 56752632 56752632 single base substitution C T intron_variant LIRI-JP 14 56753984 56753984 single base substitution C T intron_variant LIRI-JP 14 56754549 56754549 single base substitution T G intron_variant LIRI-JP 14 56755339 56755339 single base substitution A G missense_variant N165S 494A>G LIRI-JP 14 56755339 56755339 single base substitution A G missense_variant N65S 194A>G LIRI-JP 14 56757163 56757163 single base substitution C T downstream_gene_variant LIRI-JP 14 56757163 56757163 single base substitution C T stop_gained R229* 685C>T LIRI-JP 14 56757287 56757287 single base substitution G A downstream_gene_variant LIRI-JP 14 56757287 56757287 single base substitution G A intron_variant LIRI-JP 14 56757795 56757795 single base substitution A G downstream_gene_variant LIRI-JP 14 56757795 56757795 single base substitution A G intron_variant LIRI-JP 14 56759600 56759600 single base substitution T A downstream_gene_variant LIRI-JP 14 56759600 56759600 single base substitution T A intron_variant LIRI-JP 14 56760238 56760238 single base substitution G T downstream_gene_variant LIRI-JP 14 56760238 56760238 single base substitution G T intron_variant LIRI-JP 14 56762210 56762210 single base substitution T A intron_variant LIRI-JP 14 56762245 56762245 single base substitution A G intron_variant LIRI-JP 14 56763228 56763228 single base substitution A G intron_variant LIRI-JP 14 56763542 56763542 single base substitution C G synonymous_variant P307P 921C>G LIRI-JP 14 56763628 56763628 single base substitution C T missense_variant P336L 1007C>T LIRI-JP 14 56764222 56764223 deletion of <=200bp TT - 3_prime_UTR_variant LIRI-JP 14 56765156 56765156 single base substitution A G 3_prime_UTR_variant LIRI-JP 14 56765270 56765270 single base substitution T G 3_prime_UTR_variant LIRI-JP 14 56765271 56765271 single base substitution G T 3_prime_UTR_variant LIRI-JP 14 56767503 56767503 single base substitution C A 3_prime_UTR_variant LIRI-JP 14 56767827 56767827 single base substitution A G 3_prime_UTR_variant LIRI-JP 14 56769463 56769463 single base substitution C A downstream_gene_variant LIRI-JP 14 56769849 56769849 single base substitution A G downstream_gene_variant LIRI-JP 14 56770103 56770103 single base substitution G C downstream_gene_variant LIRI-JP 14 56771154 56771154 single base substitution G A downstream_gene_variant LIRI-JP 14 56771656 56771656 single base substitution A T downstream_gene_variant LIRI-JP 14 56772436 56772436 single base substitution A G downstream_gene_variant LIRI-JP 14 56773210 56773210 single base substitution G A downstream_gene_variant LUSC-KR 14 56584404 56584404 single base substitution C T upstream_gene_variant LUSC-KR 14 56592174 56592174 single base substitution G T intron_variant LUSC-KR 14 56598071 56598071 single base substitution G T intron_variant LUSC-KR 14 56603778 56603778 single base substitution A G intron_variant LUSC-KR 14 56605727 56605727 single base substitution G T intron_variant LUSC-KR 14 56610631 56610631 single base substitution G T intron_variant LUSC-KR 14 56612928 56612928 single base substitution G C intron_variant LUSC-KR 14 56615482 56615482 single base substitution G T intron_variant LUSC-KR 14 56624976 56624976 single base substitution C T intron_variant LUSC-KR 14 56625129 56625129 single base substitution G T intron_variant LUSC-KR 14 56628425 56628425 single base substitution G C intron_variant LUSC-KR 14 56630813 56630813 single base substitution G A intron_variant LUSC-KR 14 56634910 56634910 single base substitution A T intron_variant LUSC-KR 14 56635694 56635694 single base substitution G T intron_variant LUSC-KR 14 56638262 56638262 single base substitution T C intron_variant LUSC-KR 14 56642130 56642130 single base substitution G C intron_variant LUSC-KR 14 56643514 56643514 single base substitution G A intron_variant LUSC-KR 14 56645617 56645617 single base substitution G T intron_variant LUSC-KR 14 56645753 56645753 single base substitution A T intron_variant LUSC-KR 14 56646232 56646232 single base substitution G A intron_variant LUSC-KR 14 56646942 56646942 single base substitution C G intron_variant LUSC-KR 14 56663685 56663685 single base substitution G T intron_variant LUSC-KR 14 56671457 56671457 single base substitution G A intron_variant LUSC-KR 14 56673306 56673306 single base substitution C G intron_variant LUSC-KR 14 56673602 56673602 single base substitution G C intron_variant LUSC-KR 14 56673703 56673703 single base substitution C G intron_variant LUSC-KR 14 56675002 56675002 single base substitution C T intron_variant LUSC-KR 14 56679885 56679885 single base substitution G T intron_variant LUSC-KR 14 56680604 56680604 single base substitution C G intron_variant LUSC-KR 14 56683158 56683158 single base substitution G T intron_variant LUSC-KR 14 56683476 56683476 single base substitution G T intron_variant LUSC-KR 14 56693352 56693352 single base substitution G T intron_variant LUSC-KR 14 56695721 56695721 single base substitution G T intron_variant LUSC-KR 14 56696721 56696721 single base substitution A G intron_variant LUSC-KR 14 56697612 56697612 single base substitution G T intron_variant LUSC-KR 14 56697863 56697863 single base substitution A C intron_variant LUSC-KR 14 56707956 56707956 single base substitution G A intron_variant LUSC-KR 14 56717928 56717928 single base substitution G C intron_variant LUSC-KR 14 56722161 56722161 single base substitution G C intron_variant LUSC-KR 14 56722162 56722162 single base substitution C T intron_variant LUSC-KR 14 56724107 56724107 single base substitution G T intron_variant LUSC-KR 14 56728810 56728810 single base substitution A G intron_variant LUSC-KR 14 56739894 56739894 single base substitution A C intron_variant LUSC-KR 14 56741910 56741910 single base substitution C A intron_variant LUSC-KR 14 56744440 56744440 single base substitution G A intron_variant LUSC-KR 14 56744626 56744626 single base substitution G C intron_variant LUSC-KR 14 56748290 56748290 single base substitution A G intron_variant LUSC-KR 14 56750502 56750502 single base substitution G A intron_variant LUSC-KR 14 56757755 56757755 single base substitution G T downstream_gene_variant LUSC-KR 14 56757755 56757755 single base substitution G T intron_variant LUSC-KR 14 56763886 56763886 single base substitution G A 3_prime_UTR_variant LUSC-KR 14 56765271 56765271 single base substitution G C 3_prime_UTR_variant LUSC-KR 14 56766021 56766021 single base substitution C T 3_prime_UTR_variant LUSC-KR 14 56766057 56766057 single base substitution G T 3_prime_UTR_variant LUSC-US 14 56746496 56746496 single base substitution G T splice_donor_variant LUSC-US 14 56757046 56757046 single base substitution G A downstream_gene_variant LUSC-US 14 56757046 56757046 single base substitution G A missense_variant V190I 568G>A LUSC-US 14 56757046 56757046 single base substitution G A missense_variant V90I 268G>A LUSC-US 14 56757088 56757088 single base substitution C A downstream_gene_variant LUSC-US 14 56757088 56757088 single base substitution C A missense_variant Q204K 610C>A LUSC-US 14 56763638 56763638 single base substitution G T missense_variant R339S 1017G>T MALY-DE 14 56583348 56583348 single base substitution T C upstream_gene_variant MALY-DE 14 56583480 56583480 single base substitution C T upstream_gene_variant MALY-DE 14 56588901 56588901 single base substitution G A intron_variant MALY-DE 14 56592455 56592455 single base substitution C G intron_variant MALY-DE 14 56598109 56598109 single base substitution C T intron_variant MALY-DE 14 56604853 56604853 single base substitution G A intron_variant MALY-DE 14 56608756 56608756 single base substitution A T intron_variant MALY-DE 14 56616316 56616316 deletion of <=200bp T - intron_variant MALY-DE 14 56620880 56620880 single base substitution G T intron_variant MALY-DE 14 56627071 56627071 single base substitution G C intron_variant MALY-DE 14 56637031 56637031 single base substitution A C intron_variant MALY-DE 14 56648165 56648165 single base substitution T G intron_variant MALY-DE 14 56653090 56653090 single base substitution A C intron_variant MALY-DE 14 56656415 56656415 single base substitution A C intron_variant MALY-DE 14 56661234 56661234 single base substitution A G intron_variant MALY-DE 14 56665983 56665983 single base substitution C T intron_variant MALY-DE 14 56672896 56672896 single base substitution T A intron_variant MALY-DE 14 56676033 56676033 single base substitution T G intron_variant MALY-DE 14 56676380 56676380 single base substitution T C intron_variant MALY-DE 14 56677966 56677966 single base substitution T A intron_variant MALY-DE 14 56680159 56680159 single base substitution G T intron_variant MALY-DE 14 56680580 56680580 single base substitution G A intron_variant MALY-DE 14 56681538 56681538 single base substitution T G intron_variant MALY-DE 14 56681613 56681613 single base substitution T C intron_variant MALY-DE 14 56683735 56683735 single base substitution A T intron_variant MALY-DE 14 56684152 56684152 single base substitution T G intron_variant MALY-DE 14 56685241 56685241 single base substitution G C intron_variant MALY-DE 14 56686012 56686012 single base substitution C G intron_variant MALY-DE 14 56686363 56686363 single base substitution A T intron_variant MALY-DE 14 56686576 56686576 single base substitution G A intron_variant MALY-DE 14 56687653 56687653 single base substitution A C intron_variant MALY-DE 14 56691759 56691759 single base substitution T C intron_variant MALY-DE 14 56694222 56694222 single base substitution G C intron_variant MALY-DE 14 56695325 56695325 single base substitution G A intron_variant MALY-DE 14 56695345 56695345 single base substitution T G intron_variant MALY-DE 14 56699795 56699795 single base substitution A G intron_variant MALY-DE 14 56704787 56704787 single base substitution A G intron_variant MALY-DE 14 56706835 56706837 deletion of <=200bp TGT - intron_variant MALY-DE 14 56713104 56713104 single base substitution C A intron_variant MALY-DE 14 56716313 56716313 single base substitution C T intron_variant MALY-DE 14 56723177 56723177 deletion of <=200bp A - intron_variant MALY-DE 14 56728067 56728067 single base substitution C G intron_variant MALY-DE 14 56729187 56729187 single base substitution T G intron_variant MALY-DE 14 56729576 56729576 single base substitution A C intron_variant MALY-DE 14 56729968 56729968 single base substitution C A intron_variant MALY-DE 14 56735003 56735003 single base substitution T G intron_variant MALY-DE 14 56737343 56737343 single base substitution A C intron_variant MALY-DE 14 56740345 56740345 single base substitution C T intron_variant MALY-DE 14 56743444 56743444 single base substitution C A intron_variant MALY-DE 14 56746925 56746925 single base substitution G A intron_variant MALY-DE 14 56747420 56747420 single base substitution C A intron_variant MALY-DE 14 56749041 56749041 single base substitution T A intron_variant MALY-DE 14 56750665 56750665 single base substitution A C intron_variant MALY-DE 14 56757064 56757064 single base substitution C T downstream_gene_variant MALY-DE 14 56757064 56757064 single base substitution C T stop_gained R196* 586C>T MALY-DE 14 56760076 56760076 single base substitution A C downstream_gene_variant MALY-DE 14 56760076 56760076 single base substitution A C intron_variant MALY-DE 14 56762694 56762694 single base substitution G A intron_variant MALY-DE 14 56763461 56763461 single base substitution C G synonymous_variant A280A 840C>G MALY-DE 14 56764402 56764402 single base substitution T G 3_prime_UTR_variant MALY-DE 14 56765869 56765869 single base substitution A C 3_prime_UTR_variant MALY-DE 14 56768686 56768686 single base substitution T C downstream_gene_variant MALY-DE 14 56768697 56768697 single base substitution A T downstream_gene_variant MALY-DE 14 56771411 56771411 single base substitution G C downstream_gene_variant MELA-AU 14 56580196 56580196 single base substitution G A upstream_gene_variant MELA-AU 14 56581138 56581138 single base substitution C T upstream_gene_variant MELA-AU 14 56581504 56581504 single base substitution G A upstream_gene_variant MELA-AU 14 56581948 56581948 single base substitution A C upstream_gene_variant MELA-AU 14 56582008 56582008 single base substitution T C upstream_gene_variant MELA-AU 14 56584197 56584197 single base substitution G A upstream_gene_variant MELA-AU 14 56585116 56585116 single base substitution C T 5_prime_UTR_variant MELA-AU 14 56585116 56585116 single base substitution C T intron_variant MELA-AU 14 56585116 56585116 single base substitution C T upstream_gene_variant MELA-AU 14 56586323 56586323 single base substitution C T intron_variant MELA-AU 14 56586722 56586722 single base substitution C T intron_variant MELA-AU 14 56587394 56587394 single base substitution T G intron_variant MELA-AU 14 56587991 56587991 single base substitution T G intron_variant MELA-AU 14 56588509 56588509 single base substitution G A intron_variant MELA-AU 14 56588948 56588948 single base substitution C T intron_variant MELA-AU 14 56590033 56590033 single base substitution C T intron_variant MELA-AU 14 56590346 56590346 single base substitution C G intron_variant MELA-AU 14 56590619 56590619 single base substitution G T intron_variant MELA-AU 14 56591137 56591137 single base substitution C T intron_variant MELA-AU 14 56591598 56591598 single base substitution G T intron_variant MELA-AU 14 56592004 56592004 single base substitution C T intron_variant MELA-AU 14 56592062 56592062 single base substitution A G intron_variant MELA-AU 14 56592376 56592376 single base substitution G A intron_variant MELA-AU 14 56593154 56593154 single base substitution C T intron_variant MELA-AU 14 56593230 56593230 single base substitution T C intron_variant MELA-AU 14 56593497 56593497 single base substitution G A intron_variant MELA-AU 14 56594484 56594484 single base substitution C T intron_variant MELA-AU 14 56594957 56594957 insertion of <=200bp - C intron_variant MELA-AU 14 56594959 56594959 single base substitution C T intron_variant MELA-AU 14 56595092 56595092 single base substitution T A intron_variant MELA-AU 14 56595134 56595134 single base substitution C T intron_variant MELA-AU 14 56595379 56595379 single base substitution G A intron_variant MELA-AU 14 56595749 56595749 single base substitution T C intron_variant MELA-AU 14 56595751 56595751 single base substitution C T intron_variant MELA-AU 14 56595943 56595943 single base substitution G A intron_variant MELA-AU 14 56596297 56596297 single base substitution C T intron_variant MELA-AU 14 56596334 56596334 single base substitution C T intron_variant MELA-AU 14 56597547 56597547 single base substitution G A intron_variant MELA-AU 14 56597625 56597625 single base substitution C T intron_variant MELA-AU 14 56597825 56597825 single base substitution C T intron_variant MELA-AU 14 56598065 56598065 single base substitution C T intron_variant MELA-AU 14 56598233 56598233 single base substitution C T intron_variant MELA-AU 14 56598253 56598253 single base substitution C T intron_variant MELA-AU 14 56598457 56598457 single base substitution T A intron_variant MELA-AU 14 56598636 56598636 single base substitution C T intron_variant MELA-AU 14 56599173 56599173 single base substitution G A intron_variant MELA-AU 14 56599386 56599386 single base substitution C T intron_variant MELA-AU 14 56599793 56599793 single base substitution C T intron_variant MELA-AU 14 56599995 56599995 single base substitution C T intron_variant MELA-AU 14 56600695 56600695 single base substitution T A intron_variant MELA-AU 14 56601155 56601155 single base substitution C T intron_variant MELA-AU 14 56602290 56602290 single base substitution G T intron_variant MELA-AU 14 56602825 56602825 single base substitution G A intron_variant MELA-AU 14 56602843 56602843 single base substitution A C intron_variant MELA-AU 14 56602990 56602990 single base substitution C T intron_variant MELA-AU 14 56603626 56603626 single base substitution A T intron_variant MELA-AU 14 56605107 56605107 single base substitution C T intron_variant MELA-AU 14 56605860 56605860 single base substitution A G intron_variant MELA-AU 14 56605918 56605918 single base substitution G A intron_variant MELA-AU 14 56606358 56606358 single base substitution A C intron_variant MELA-AU 14 56607121 56607121 single base substitution A T intron_variant MELA-AU 14 56607264 56607264 single base substitution C A intron_variant MELA-AU 14 56608137 56608137 single base substitution C T intron_variant MELA-AU 14 56609156 56609156 single base substitution G A intron_variant MELA-AU 14 56610167 56610167 single base substitution C T intron_variant MELA-AU 14 56610182 56610182 single base substitution C T intron_variant MELA-AU 14 56610821 56610821 single base substitution A T intron_variant MELA-AU 14 56610959 56610959 single base substitution G A intron_variant MELA-AU 14 56611100 56611100 single base substitution C T intron_variant MELA-AU 14 56611588 56611588 single base substitution G A intron_variant MELA-AU 14 56612196 56612196 single base substitution T C intron_variant MELA-AU 14 56612201 56612201 single base substitution C T intron_variant MELA-AU 14 56614557 56614557 single base substitution T C intron_variant MELA-AU 14 56614905 56614905 single base substitution T C intron_variant MELA-AU 14 56615323 56615323 single base substitution C T intron_variant MELA-AU 14 56615474 56615474 single base substitution C T intron_variant MELA-AU 14 56615582 56615582 single base substitution G A intron_variant MELA-AU 14 56615719 56615719 single base substitution C T intron_variant MELA-AU 14 56616267 56616267 single base substitution C T intron_variant MELA-AU 14 56616540 56616540 single base substitution A T intron_variant MELA-AU 14 56616998 56616998 single base substitution C T intron_variant MELA-AU 14 56617210 56617220 deletion of <=200bp ATATCTGACAC - intron_variant MELA-AU 14 56617359 56617359 single base substitution C T intron_variant MELA-AU 14 56618118 56618118 single base substitution C T intron_variant MELA-AU 14 56618516 56618516 single base substitution A G intron_variant MELA-AU 14 56618901 56618901 single base substitution G A intron_variant MELA-AU 14 56619704 56619704 single base substitution C A intron_variant MELA-AU 14 56620777 56620777 single base substitution G A intron_variant MELA-AU 14 56621997 56621997 single base substitution G A intron_variant MELA-AU 14 56622088 56622088 single base substitution T A intron_variant MELA-AU 14 56622186 56622186 single base substitution C T intron_variant MELA-AU 14 56622682 56622682 single base substitution T A intron_variant MELA-AU 14 56623047 56623047 single base substitution C T intron_variant MELA-AU 14 56623827 56623827 single base substitution C T intron_variant MELA-AU 14 56624020 56624020 single base substitution G A intron_variant MELA-AU 14 56624312 56624312 single base substitution C T intron_variant MELA-AU 14 56624636 56624636 single base substitution T C intron_variant MELA-AU 14 56625077 56625077 single base substitution C T intron_variant MELA-AU 14 56625111 56625112 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 14 56625424 56625424 single base substitution G A intron_variant MELA-AU 14 56625466 56625466 single base substitution C T intron_variant MELA-AU 14 56626028 56626028 single base substitution C T intron_variant MELA-AU 14 56626272 56626272 single base substitution C T intron_variant MELA-AU 14 56626713 56626713 single base substitution C T intron_variant MELA-AU 14 56628932 56628932 single base substitution C T intron_variant MELA-AU 14 56629006 56629006 single base substitution C T intron_variant MELA-AU 14 56629010 56629010 single base substitution C T intron_variant MELA-AU 14 56629325 56629325 single base substitution C T intron_variant MELA-AU 14 56629438 56629438 single base substitution C T intron_variant MELA-AU 14 56629779 56629779 single base substitution C T intron_variant MELA-AU 14 56629843 56629843 single base substitution G A intron_variant MELA-AU 14 56630133 56630133 single base substitution C T intron_variant MELA-AU 14 56630243 56630243 single base substitution C T intron_variant MELA-AU 14 56630875 56630875 single base substitution C T intron_variant MELA-AU 14 56631508 56631508 single base substitution C T intron_variant MELA-AU 14 56631800 56631800 single base substitution G T intron_variant MELA-AU 14 56632087 56632087 single base substitution C T intron_variant MELA-AU 14 56632378 56632378 single base substitution C T intron_variant MELA-AU 14 56632471 56632471 single base substitution C T intron_variant MELA-AU 14 56632750 56632750 single base substitution G A intron_variant MELA-AU 14 56632907 56632907 single base substitution C T intron_variant MELA-AU 14 56633383 56633383 single base substitution C T intron_variant MELA-AU 14 56633546 56633546 single base substitution C T intron_variant MELA-AU 14 56633551 56633551 single base substitution G A intron_variant MELA-AU 14 56633604 56633604 single base substitution C T intron_variant MELA-AU 14 56633810 56633810 single base substitution G A intron_variant MELA-AU 14 56634320 56634320 single base substitution C T intron_variant MELA-AU 14 56634435 56634435 single base substitution C T intron_variant MELA-AU 14 56634498 56634498 single base substitution T C intron_variant MELA-AU 14 56634713 56634713 single base substitution T A intron_variant MELA-AU 14 56634885 56634885 single base substitution C T intron_variant MELA-AU 14 56635159 56635159 single base substitution C T intron_variant MELA-AU 14 56635391 56635391 single base substitution C T intron_variant MELA-AU 14 56635459 56635459 single base substitution G A intron_variant MELA-AU 14 56635890 56635890 single base substitution C T intron_variant MELA-AU 14 56635938 56635938 single base substitution C T intron_variant MELA-AU 14 56636362 56636362 single base substitution C T intron_variant MELA-AU 14 56636499 56636499 single base substitution C T intron_variant MELA-AU 14 56636571 56636571 single base substitution C T intron_variant MELA-AU 14 56636945 56636945 single base substitution C T intron_variant MELA-AU 14 56636985 56636985 single base substitution C T intron_variant MELA-AU 14 56637038 56637039 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 56638531 56638531 single base substitution C T intron_variant MELA-AU 14 56638579 56638579 single base substitution C T intron_variant MELA-AU 14 56638616 56638616 single base substitution C T intron_variant MELA-AU 14 56639120 56639120 single base substitution C T intron_variant MELA-AU 14 56639595 56639595 single base substitution G C intron_variant MELA-AU 14 56639700 56639700 single base substitution C T intron_variant MELA-AU 14 56640375 56640375 single base substitution C T intron_variant MELA-AU 14 56640378 56640378 single base substitution T A intron_variant MELA-AU 14 56640875 56640876 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 56641898 56641898 single base substitution G A intron_variant MELA-AU 14 56643605 56643605 single base substitution C T intron_variant MELA-AU 14 56643643 56643643 single base substitution G A intron_variant MELA-AU 14 56644697 56644697 single base substitution C T intron_variant MELA-AU 14 56646369 56646369 single base substitution C T intron_variant MELA-AU 14 56647769 56647769 single base substitution C T intron_variant MELA-AU 14 56647969 56647969 single base substitution T C intron_variant MELA-AU 14 56647986 56647986 single base substitution C T intron_variant MELA-AU 14 56649722 56649722 single base substitution C T intron_variant MELA-AU 14 56649747 56649747 deletion of <=200bp A - intron_variant MELA-AU 14 56649841 56649841 single base substitution T C intron_variant MELA-AU 14 56649981 56649981 single base substitution T C intron_variant MELA-AU 14 56650502 56650502 single base substitution T A intron_variant MELA-AU 14 56650656 56650656 single base substitution C T intron_variant MELA-AU 14 56650925 56650925 single base substitution G A intron_variant MELA-AU 14 56651043 56651043 single base substitution G T intron_variant MELA-AU 14 56651132 56651133 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 56651466 56651466 single base substitution G A intron_variant MELA-AU 14 56651694 56651694 single base substitution G A intron_variant MELA-AU 14 56652312 56652312 deletion of <=200bp T - intron_variant MELA-AU 14 56652603 56652603 single base substitution C T intron_variant MELA-AU 14 56653931 56653931 single base substitution C T intron_variant MELA-AU 14 56654770 56654770 single base substitution C T intron_variant MELA-AU 14 56655518 56655518 single base substitution C T intron_variant MELA-AU 14 56655904 56655904 single base substitution A T intron_variant MELA-AU 14 56656065 56656065 single base substitution C T intron_variant MELA-AU 14 56657674 56657674 single base substitution C A intron_variant MELA-AU 14 56657904 56657904 single base substitution G A intron_variant MELA-AU 14 56658403 56658403 single base substitution C T intron_variant MELA-AU 14 56658542 56658542 single base substitution T A intron_variant MELA-AU 14 56658667 56658667 single base substitution G A intron_variant MELA-AU 14 56660631 56660631 single base substitution C T intron_variant MELA-AU 14 56661537 56661537 single base substitution C T intron_variant MELA-AU 14 56661929 56661929 single base substitution A G intron_variant MELA-AU 14 56662121 56662121 single base substitution C T intron_variant MELA-AU 14 56662900 56662900 single base substitution C T intron_variant MELA-AU 14 56663562 56663562 single base substitution A G intron_variant MELA-AU 14 56663803 56663803 single base substitution C T intron_variant MELA-AU 14 56665123 56665123 single base substitution C T intron_variant MELA-AU 14 56665131 56665131 single base substitution G A intron_variant MELA-AU 14 56666193 56666193 single base substitution C G intron_variant MELA-AU 14 56667041 56667041 single base substitution C T intron_variant MELA-AU 14 56668334 56668334 single base substitution C T intron_variant MELA-AU 14 56668820 56668820 single base substitution C T intron_variant MELA-AU 14 56669186 56669186 single base substitution G A intron_variant MELA-AU 14 56669276 56669276 single base substitution C T intron_variant MELA-AU 14 56669982 56669982 single base substitution C A intron_variant MELA-AU 14 56670154 56670154 single base substitution T G intron_variant MELA-AU 14 56671202 56671202 single base substitution C T intron_variant MELA-AU 14 56671280 56671280 single base substitution T G intron_variant MELA-AU 14 56671412 56671412 single base substitution C T intron_variant MELA-AU 14 56671500 56671500 single base substitution C T intron_variant MELA-AU 14 56671663 56671663 single base substitution C T intron_variant MELA-AU 14 56671714 56671714 single base substitution C T intron_variant MELA-AU 14 56673115 56673115 single base substitution C T intron_variant MELA-AU 14 56673199 56673199 single base substitution C T intron_variant MELA-AU 14 56673306 56673306 single base substitution C T intron_variant MELA-AU 14 56673843 56673843 single base substitution C A intron_variant MELA-AU 14 56674851 56674854 deletion of <=200bp AAAG - intron_variant MELA-AU 14 56675327 56675327 single base substitution T G intron_variant MELA-AU 14 56676263 56676263 single base substitution C T intron_variant MELA-AU 14 56676962 56676962 single base substitution C T intron_variant MELA-AU 14 56677443 56677443 single base substitution G T intron_variant MELA-AU 14 56677513 56677513 single base substitution G A intron_variant MELA-AU 14 56679065 56679065 single base substitution C T intron_variant MELA-AU 14 56679124 56679124 single base substitution C T intron_variant MELA-AU 14 56679183 56679184 multiple base substitution (>=2bp and <=200bp) CT TC intron_variant MELA-AU 14 56680769 56680769 single base substitution C T intron_variant MELA-AU 14 56680801 56680801 single base substitution C T intron_variant MELA-AU 14 56682142 56682142 single base substitution C T intron_variant MELA-AU 14 56682954 56682954 single base substitution C T intron_variant MELA-AU 14 56683688 56683688 single base substitution C T intron_variant MELA-AU 14 56683815 56683815 single base substitution C T intron_variant MELA-AU 14 56684892 56684892 single base substitution C T intron_variant MELA-AU 14 56685111 56685111 single base substitution G A intron_variant MELA-AU 14 56685279 56685279 single base substitution C T intron_variant MELA-AU 14 56685315 56685315 single base substitution T C intron_variant MELA-AU 14 56685441 56685441 single base substitution G T intron_variant MELA-AU 14 56685560 56685560 single base substitution T A intron_variant MELA-AU 14 56685760 56685760 single base substitution C T intron_variant MELA-AU 14 56686590 56686590 single base substitution T A intron_variant MELA-AU 14 56687456 56687456 single base substitution T C intron_variant MELA-AU 14 56687777 56687777 single base substitution C A intron_variant MELA-AU 14 56689228 56689228 single base substitution C T intron_variant MELA-AU 14 56689954 56689954 single base substitution C T intron_variant MELA-AU 14 56690218 56690218 single base substitution C T intron_variant MELA-AU 14 56690470 56690470 single base substitution A C intron_variant MELA-AU 14 56690539 56690539 single base substitution C T intron_variant MELA-AU 14 56690862 56690862 single base substitution T C intron_variant MELA-AU 14 56691374 56691374 single base substitution A T intron_variant MELA-AU 14 56692032 56692032 single base substitution C T intron_variant MELA-AU 14 56692518 56692518 single base substitution C T intron_variant MELA-AU 14 56693029 56693029 single base substitution C T intron_variant MELA-AU 14 56693339 56693339 single base substitution C T intron_variant MELA-AU 14 56694130 56694130 single base substitution A T intron_variant MELA-AU 14 56695313 56695313 single base substitution T A intron_variant MELA-AU 14 56695355 56695355 single base substitution C T intron_variant MELA-AU 14 56695395 56695395 single base substitution C T intron_variant MELA-AU 14 56695841 56695842 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 56695856 56695856 single base substitution C T intron_variant MELA-AU 14 56696127 56696127 single base substitution C T intron_variant MELA-AU 14 56696681 56696681 single base substitution C T intron_variant MELA-AU 14 56697238 56697238 single base substitution A C intron_variant MELA-AU 14 56697860 56697860 single base substitution C T intron_variant MELA-AU 14 56698511 56698511 single base substitution C T intron_variant MELA-AU 14 56698657 56698657 single base substitution C T intron_variant MELA-AU 14 56699049 56699049 single base substitution C T intron_variant MELA-AU 14 56699149 56699149 single base substitution C T intron_variant MELA-AU 14 56699358 56699358 single base substitution C T intron_variant MELA-AU 14 56699396 56699396 single base substitution A G intron_variant MELA-AU 14 56699576 56699576 single base substitution C T intron_variant MELA-AU 14 56699609 56699609 single base substitution G A intron_variant MELA-AU 14 56699848 56699848 single base substitution C T intron_variant MELA-AU 14 56700153 56700153 single base substitution C T intron_variant MELA-AU 14 56701156 56701156 single base substitution C T intron_variant MELA-AU 14 56701210 56701210 single base substitution A G intron_variant MELA-AU 14 56701349 56701349 single base substitution T C intron_variant MELA-AU 14 56701707 56701707 single base substitution C T intron_variant MELA-AU 14 56702016 56702016 single base substitution G A intron_variant MELA-AU 14 56702174 56702174 single base substitution C T intron_variant MELA-AU 14 56702230 56702230 single base substitution T A intron_variant MELA-AU 14 56703121 56703121 single base substitution C T intron_variant MELA-AU 14 56703675 56703676 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 56703754 56703754 single base substitution T A intron_variant MELA-AU 14 56703822 56703822 single base substitution C T intron_variant MELA-AU 14 56704177 56704177 single base substitution T C intron_variant MELA-AU 14 56704810 56704810 single base substitution C T intron_variant MELA-AU 14 56705039 56705039 single base substitution C T intron_variant MELA-AU 14 56705278 56705278 single base substitution C T intron_variant MELA-AU 14 56705445 56705445 single base substitution G C intron_variant MELA-AU 14 56705599 56705599 single base substitution A G intron_variant MELA-AU 14 56705711 56705711 single base substitution T G intron_variant MELA-AU 14 56705885 56705885 single base substitution A T intron_variant MELA-AU 14 56706305 56706305 single base substitution C T intron_variant MELA-AU 14 56707031 56707031 single base substitution G A intron_variant MELA-AU 14 56708011 56708011 single base substitution C T intron_variant MELA-AU 14 56708180 56708180 single base substitution C T intron_variant MELA-AU 14 56709282 56709282 single base substitution G A intron_variant MELA-AU 14 56709486 56709486 single base substitution C T intron_variant MELA-AU 14 56709653 56709653 single base substitution C T intron_variant MELA-AU 14 56709980 56709980 single base substitution C T intron_variant MELA-AU 14 56710223 56710223 single base substitution G A intron_variant MELA-AU 14 56710902 56710902 single base substitution C T intron_variant MELA-AU 14 56711465 56711465 single base substitution G A intron_variant MELA-AU 14 56712852 56712852 single base substitution C T intron_variant MELA-AU 14 56713141 56713141 single base substitution C T intron_variant MELA-AU 14 56713915 56713915 single base substitution C T intron_variant MELA-AU 14 56714933 56714933 single base substitution C G intron_variant MELA-AU 14 56715512 56715512 single base substitution C T intron_variant MELA-AU 14 56716020 56716020 single base substitution C T intron_variant MELA-AU 14 56716772 56716773 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 56717027 56717027 single base substitution C T intron_variant MELA-AU 14 56717274 56717274 single base substitution T C intron_variant MELA-AU 14 56718135 56718135 single base substitution C A intron_variant MELA-AU 14 56719031 56719031 single base substitution C T intron_variant MELA-AU 14 56719405 56719405 single base substitution A C intron_variant MELA-AU 14 56719519 56719519 single base substitution C T intron_variant MELA-AU 14 56719991 56719991 single base substitution C T intron_variant MELA-AU 14 56719992 56719992 single base substitution C T intron_variant MELA-AU 14 56720069 56720069 single base substitution G A intron_variant MELA-AU 14 56720572 56720572 single base substitution C T intron_variant MELA-AU 14 56720822 56720822 single base substitution T C intron_variant MELA-AU 14 56720840 56720840 single base substitution C T intron_variant MELA-AU 14 56720901 56720901 single base substitution G A intron_variant MELA-AU 14 56720942 56720942 single base substitution C T intron_variant MELA-AU 14 56721027 56721027 single base substitution G A intron_variant MELA-AU 14 56721030 56721030 single base substitution T C intron_variant MELA-AU 14 56721364 56721364 single base substitution C T intron_variant MELA-AU 14 56721523 56721523 single base substitution A G intron_variant MELA-AU 14 56722005 56722005 single base substitution C T intron_variant MELA-AU 14 56722203 56722204 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 56722558 56722558 single base substitution C T intron_variant MELA-AU 14 56723065 56723065 single base substitution A G intron_variant MELA-AU 14 56723259 56723260 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 56724621 56724621 single base substitution C T intron_variant MELA-AU 14 56724796 56724796 single base substitution C T intron_variant MELA-AU 14 56724882 56724882 single base substitution C G intron_variant MELA-AU 14 56725709 56725709 single base substitution A T intron_variant MELA-AU 14 56725756 56725756 single base substitution C T intron_variant MELA-AU 14 56725770 56725770 single base substitution T C intron_variant MELA-AU 14 56726447 56726447 single base substitution C T intron_variant MELA-AU 14 56726807 56726807 single base substitution A C intron_variant MELA-AU 14 56727889 56727889 single base substitution C T intron_variant MELA-AU 14 56729465 56729465 single base substitution C T intron_variant MELA-AU 14 56729602 56729602 single base substitution G T intron_variant MELA-AU 14 56729747 56729747 single base substitution T A intron_variant MELA-AU 14 56730852 56730852 single base substitution C T intron_variant MELA-AU 14 56731667 56731667 single base substitution G A intron_variant MELA-AU 14 56732956 56732956 single base substitution C T intron_variant MELA-AU 14 56735992 56735992 single base substitution C T intron_variant MELA-AU 14 56736523 56736523 single base substitution C T intron_variant MELA-AU 14 56736723 56736723 single base substitution C T intron_variant MELA-AU 14 56737364 56737364 single base substitution G A intron_variant MELA-AU 14 56737396 56737396 single base substitution G A intron_variant MELA-AU 14 56737926 56737926 single base substitution C T intron_variant MELA-AU 14 56738190 56738190 single base substitution C T intron_variant MELA-AU 14 56738468 56738468 single base substitution C T intron_variant MELA-AU 14 56738522 56738522 single base substitution G A intron_variant MELA-AU 14 56738804 56738804 single base substitution C T intron_variant MELA-AU 14 56739387 56739387 single base substitution C T intron_variant MELA-AU 14 56739582 56739582 single base substitution C T intron_variant MELA-AU 14 56739582 56739583 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 56739722 56739722 single base substitution G A intron_variant MELA-AU 14 56739915 56739915 single base substitution C T intron_variant MELA-AU 14 56739969 56739969 single base substitution C T intron_variant MELA-AU 14 56741288 56741288 single base substitution A T intron_variant MELA-AU 14 56743101 56743101 single base substitution C T intron_variant MELA-AU 14 56743194 56743194 single base substitution T C intron_variant MELA-AU 14 56743196 56743196 single base substitution C T intron_variant MELA-AU 14 56743609 56743609 single base substitution C T intron_variant MELA-AU 14 56743972 56743972 single base substitution C T intron_variant MELA-AU 14 56744596 56744596 insertion of <=200bp - T intron_variant MELA-AU 14 56745034 56745034 single base substitution T C intron_variant MELA-AU 14 56746536 56746536 single base substitution C T intron_variant MELA-AU 14 56747407 56747407 single base substitution A C intron_variant MELA-AU 14 56748511 56748511 single base substitution C T intron_variant MELA-AU 14 56749714 56749714 single base substitution C T intron_variant MELA-AU 14 56750019 56750019 single base substitution C T intron_variant MELA-AU 14 56750532 56750532 single base substitution C A intron_variant MELA-AU 14 56750814 56750814 single base substitution C T intron_variant MELA-AU 14 56751055 56751055 single base substitution G A intron_variant MELA-AU 14 56751511 56751511 single base substitution C T intron_variant MELA-AU 14 56753489 56753489 single base substitution C T intron_variant MELA-AU 14 56753534 56753534 single base substitution T C intron_variant MELA-AU 14 56753629 56753629 single base substitution C T intron_variant MELA-AU 14 56753717 56753717 single base substitution G A intron_variant MELA-AU 14 56754327 56754327 single base substitution T C intron_variant MELA-AU 14 56754530 56754530 single base substitution C T intron_variant MELA-AU 14 56755001 56755001 single base substitution G A intron_variant MELA-AU 14 56755029 56755029 single base substitution T A intron_variant MELA-AU 14 56755089 56755089 single base substitution C T intron_variant MELA-AU 14 56755090 56755090 single base substitution T C intron_variant MELA-AU 14 56755307 56755307 single base substitution G A synonymous_variant R154R 462G>A MELA-AU 14 56755307 56755307 single base substitution G A synonymous_variant R54R 162G>A MELA-AU 14 56755717 56755717 single base substitution C T intron_variant MELA-AU 14 56755799 56755799 single base substitution C T intron_variant MELA-AU 14 56755989 56755989 single base substitution T A intron_variant MELA-AU 14 56756168 56756168 single base substitution C T intron_variant MELA-AU 14 56756682 56756682 single base substitution C T intron_variant MELA-AU 14 56756706 56756706 single base substitution A C intron_variant MELA-AU 14 56756792 56756792 single base substitution C T intron_variant MELA-AU 14 56757011 56757011 single base substitution C T missense_variant P178L 533C>T MELA-AU 14 56757011 56757011 single base substitution C T missense_variant P78L 233C>T MELA-AU 14 56757011 56757011 single base substitution C T synonymous_variant ?78 MELA-AU 14 56757244 56757244 single base substitution C T downstream_gene_variant MELA-AU 14 56757244 56757244 single base substitution C T intron_variant MELA-AU 14 56757331 56757331 single base substitution C A downstream_gene_variant MELA-AU 14 56757331 56757331 single base substitution C A intron_variant MELA-AU 14 56757565 56757565 single base substitution T A downstream_gene_variant MELA-AU 14 56757565 56757565 single base substitution T A intron_variant MELA-AU 14 56758113 56758113 single base substitution C T downstream_gene_variant MELA-AU 14 56758113 56758113 single base substitution C T intron_variant MELA-AU 14 56758386 56758386 single base substitution T C downstream_gene_variant MELA-AU 14 56758386 56758386 single base substitution T C intron_variant MELA-AU 14 56758592 56758592 single base substitution G A downstream_gene_variant MELA-AU 14 56758592 56758592 single base substitution G A intron_variant MELA-AU 14 56759479 56759479 single base substitution A G downstream_gene_variant MELA-AU 14 56759479 56759479 single base substitution A G intron_variant MELA-AU 14 56759518 56759518 single base substitution C T downstream_gene_variant MELA-AU 14 56759518 56759518 single base substitution C T intron_variant MELA-AU 14 56760726 56760726 insertion of <=200bp - CCAGTTAGAGGAGAGGAGACC downstream_gene_variant MELA-AU 14 56760726 56760726 insertion of <=200bp - CCAGTTAGAGGAGAGGAGACC intron_variant MELA-AU 14 56760905 56760905 single base substitution C T downstream_gene_variant MELA-AU 14 56760905 56760905 single base substitution C T intron_variant MELA-AU 14 56761386 56761386 single base substitution C T downstream_gene_variant MELA-AU 14 56761386 56761386 single base substitution C T intron_variant MELA-AU 14 56761929 56761929 single base substitution C T downstream_gene_variant MELA-AU 14 56761929 56761929 single base substitution C T intron_variant MELA-AU 14 56762047 56762047 single base substitution C T downstream_gene_variant MELA-AU 14 56762047 56762047 single base substitution C T intron_variant MELA-AU 14 56762885 56762885 single base substitution C T intron_variant MELA-AU 14 56763440 56763440 single base substitution C T synonymous_variant L273L 819C>T MELA-AU 14 56763457 56763457 single base substitution C T missense_variant A279V 836C>T MELA-AU 14 56764243 56764243 single base substitution T A 3_prime_UTR_variant MELA-AU 14 56764565 56764565 single base substitution C T 3_prime_UTR_variant MELA-AU 14 56765353 56765353 single base substitution C T 3_prime_UTR_variant MELA-AU 14 56765833 56765833 single base substitution C A 3_prime_UTR_variant MELA-AU 14 56766028 56766028 single base substitution G A 3_prime_UTR_variant MELA-AU 14 56766430 56766430 single base substitution C T 3_prime_UTR_variant MELA-AU 14 56766459 56766459 single base substitution G A 3_prime_UTR_variant MELA-AU 14 56766682 56766682 single base substitution T A 3_prime_UTR_variant MELA-AU 14 56766692 56766692 single base substitution C T 3_prime_UTR_variant MELA-AU 14 56766953 56766953 single base substitution G A 3_prime_UTR_variant MELA-AU 14 56767866 56767866 single base substitution T C 3_prime_UTR_variant MELA-AU 14 56767928 56767928 single base substitution T C 3_prime_UTR_variant MELA-AU 14 56768289 56768289 single base substitution T A downstream_gene_variant MELA-AU 14 56769485 56769485 single base substitution C T downstream_gene_variant MELA-AU 14 56770333 56770333 single base substitution C T downstream_gene_variant MELA-AU 14 56770992 56770992 single base substitution C T downstream_gene_variant MELA-AU 14 56771637 56771637 single base substitution T A downstream_gene_variant MELA-AU 14 56771726 56771726 single base substitution A T downstream_gene_variant MELA-AU 14 56771909 56771909 single base substitution T C downstream_gene_variant MELA-AU 14 56772148 56772148 single base substitution C T downstream_gene_variant MELA-AU 14 56773079 56773079 single base substitution A G downstream_gene_variant MELA-AU 14 56773180 56773180 single base substitution C T downstream_gene_variant ORCA-IN 14 56594508 56594508 single base substitution A T intron_variant ORCA-IN 14 56597163 56597164 deletion of <=200bp TG - intron_variant ORCA-IN 14 56604441 56604441 single base substitution G T intron_variant ORCA-IN 14 56627491 56627491 single base substitution G C intron_variant ORCA-IN 14 56631590 56631590 single base substitution A G intron_variant ORCA-IN 14 56633799 56633799 single base substitution G A intron_variant ORCA-IN 14 56639686 56639686 single base substitution G C intron_variant ORCA-IN 14 56643649 56643649 single base substitution T C intron_variant ORCA-IN 14 56657498 56657498 single base substitution G A intron_variant ORCA-IN 14 56675338 56675338 single base substitution C T intron_variant ORCA-IN 14 56688757 56688757 single base substitution G A intron_variant ORCA-IN 14 56690028 56690028 single base substitution C T intron_variant ORCA-IN 14 56722394 56722394 single base substitution G A intron_variant ORCA-IN 14 56735147 56735147 single base substitution T C intron_variant ORCA-IN 14 56735758 56735758 deletion of <=200bp T - intron_variant ORCA-IN 14 56754480 56754480 single base substitution C G intron_variant ORCA-IN 14 56758042 56758042 single base substitution C T downstream_gene_variant ORCA-IN 14 56758042 56758042 single base substitution C T intron_variant OV-AU 14 56584930 56584930 single base substitution G C intron_variant OV-AU 14 56584930 56584930 single base substitution G C upstream_gene_variant OV-AU 14 56585844 56585844 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant OV-AU 14 56585844 56585844 single base substitution C T intron_variant OV-AU 14 56596168 56596168 single base substitution G A intron_variant OV-AU 14 56596938 56596938 single base substitution T C intron_variant OV-AU 14 56598012 56598012 single base substitution C G intron_variant OV-AU 14 56599136 56599136 single base substitution G A intron_variant OV-AU 14 56599401 56599401 single base substitution T G intron_variant OV-AU 14 56600968 56600968 single base substitution A T intron_variant OV-AU 14 56600969 56600969 single base substitution G T intron_variant OV-AU 14 56604106 56604106 single base substitution T A intron_variant OV-AU 14 56617905 56617905 single base substitution A C intron_variant OV-AU 14 56619971 56619971 single base substitution G C intron_variant OV-AU 14 56629629 56629629 single base substitution C G intron_variant OV-AU 14 56633047 56633047 single base substitution A T intron_variant OV-AU 14 56639708 56639708 single base substitution G T intron_variant OV-AU 14 56640887 56640887 single base substitution C T intron_variant OV-AU 14 56644426 56644426 single base substitution C G intron_variant OV-AU 14 56648159 56648159 single base substitution C T intron_variant OV-AU 14 56651677 56651677 single base substitution A T intron_variant OV-AU 14 56653808 56653808 single base substitution G T intron_variant OV-AU 14 56665142 56665142 single base substitution G C intron_variant OV-AU 14 56667913 56667913 single base substitution A T intron_variant OV-AU 14 56673594 56673594 single base substitution T G intron_variant OV-AU 14 56675829 56675829 single base substitution A G intron_variant OV-AU 14 56686012 56686012 single base substitution C T intron_variant OV-AU 14 56694190 56694190 single base substitution G T intron_variant OV-AU 14 56694892 56694892 single base substitution G T intron_variant OV-AU 14 56696413 56696413 single base substitution C T intron_variant OV-AU 14 56700297 56700297 single base substitution C A intron_variant OV-AU 14 56708030 56708030 single base substitution T C intron_variant OV-AU 14 56715657 56715657 single base substitution G T intron_variant OV-AU 14 56719897 56719897 single base substitution C A intron_variant OV-AU 14 56726375 56726375 single base substitution T G intron_variant OV-AU 14 56731632 56731632 single base substitution G A intron_variant OV-AU 14 56744132 56744132 single base substitution C T intron_variant OV-AU 14 56751811 56751811 single base substitution C T intron_variant OV-AU 14 56754214 56754214 single base substitution A G intron_variant OV-AU 14 56757460 56757460 single base substitution A G downstream_gene_variant OV-AU 14 56757460 56757460 single base substitution A G intron_variant PACA-AU 14 56579580 56579580 single base substitution C T upstream_gene_variant PACA-AU 14 56581429 56581429 single base substitution T C upstream_gene_variant PACA-AU 14 56583200 56583220 deletion of <=200bp GACGGGGGGGCCTTGGAAGAT - upstream_gene_variant PACA-AU 14 56594960 56594960 single base substitution C T intron_variant PACA-AU 14 56613291 56613291 single base substitution A G intron_variant PACA-AU 14 56613730 56613730 single base substitution T G intron_variant PACA-AU 14 56614350 56614350 single base substitution T C intron_variant PACA-AU 14 56615371 56615371 single base substitution T C intron_variant PACA-AU 14 56616222 56616222 single base substitution T C intron_variant PACA-AU 14 56619769 56619769 single base substitution T C intron_variant PACA-AU 14 56621971 56621971 single base substitution G C intron_variant PACA-AU 14 56626806 56626806 single base substitution G C intron_variant PACA-AU 14 56628353 56628353 single base substitution G A intron_variant PACA-AU 14 56631165 56631165 insertion of <=200bp - T intron_variant PACA-AU 14 56634068 56634068 deletion of <=200bp T - intron_variant PACA-AU 14 56648707 56648707 single base substitution G T intron_variant PACA-AU 14 56654687 56654687 deletion of <=200bp T - intron_variant PACA-AU 14 56656725 56656725 single base substitution T G intron_variant PACA-AU 14 56666738 56666738 single base substitution C T intron_variant PACA-AU 14 56666934 56666936 deletion of <=200bp AAT - intron_variant PACA-AU 14 56669527 56669527 single base substitution C T intron_variant PACA-AU 14 56675248 56675248 single base substitution G A intron_variant PACA-AU 14 56676939 56676939 single base substitution G A intron_variant PACA-AU 14 56680063 56680063 single base substitution A G intron_variant PACA-AU 14 56691263 56691263 single base substitution T A intron_variant PACA-AU 14 56692156 56692156 single base substitution G A intron_variant PACA-AU 14 56695512 56695512 single base substitution G A intron_variant PACA-AU 14 56696652 56696652 single base substitution C T intron_variant PACA-AU 14 56697171 56697171 single base substitution C G intron_variant PACA-AU 14 56698461 56698461 single base substitution A G intron_variant PACA-AU 14 56711376 56711376 single base substitution G A intron_variant PACA-AU 14 56712323 56712326 deletion of <=200bp TTTC - intron_variant PACA-AU 14 56715088 56715088 insertion of <=200bp - C intron_variant PACA-AU 14 56717071 56717071 single base substitution C T intron_variant PACA-AU 14 56719297 56719297 single base substitution G C intron_variant PACA-AU 14 56721260 56721260 single base substitution A T intron_variant PACA-AU 14 56723064 56723064 single base substitution G A intron_variant PACA-AU 14 56726216 56726216 single base substitution G T intron_variant PACA-AU 14 56727592 56727592 single base substitution A C intron_variant PACA-AU 14 56734037 56734037 single base substitution C T intron_variant PACA-AU 14 56735502 56735503 deletion of <=200bp TG - intron_variant PACA-AU 14 56738035 56738035 single base substitution C A intron_variant PACA-AU 14 56738527 56738527 deletion of <=200bp C - intron_variant PACA-AU 14 56740066 56740086 deletion of <=200bp ATCAGAAGTCCCATGTGTCAC - intron_variant PACA-AU 14 56744926 56744926 single base substitution T G intron_variant PACA-AU 14 56752194 56752194 single base substitution G A intron_variant PACA-AU 14 56753484 56753484 single base substitution G A intron_variant PACA-AU 14 56753860 56753860 single base substitution C A intron_variant PACA-AU 14 56759813 56759813 single base substitution C G downstream_gene_variant PACA-AU 14 56759813 56759813 single base substitution C G intron_variant PACA-AU 14 56763770 56763770 single base substitution G T missense_variant Q383H 1149G>T PACA-CA 14 56580474 56580474 single base substitution C G upstream_gene_variant PACA-CA 14 56580906 56580906 single base substitution G A upstream_gene_variant PACA-CA 14 56580950 56580950 single base substitution A G upstream_gene_variant PACA-CA 14 56593554 56593554 single base substitution T C intron_variant PACA-CA 14 56595866 56595866 single base substitution C G intron_variant PACA-CA 14 56598952 56598952 single base substitution A G intron_variant PACA-CA 14 56604308 56604308 single base substitution G A intron_variant PACA-CA 14 56605193 56605193 single base substitution A T intron_variant PACA-CA 14 56605434 56605434 single base substitution A T intron_variant PACA-CA 14 56606741 56606741 single base substitution T C intron_variant PACA-CA 14 56613330 56613330 single base substitution G A intron_variant PACA-CA 14 56616371 56616371 single base substitution T G intron_variant PACA-CA 14 56618380 56618380 single base substitution C G intron_variant PACA-CA 14 56621866 56621866 insertion of <=200bp - T intron_variant PACA-CA 14 56623992 56623992 single base substitution A T intron_variant PACA-CA 14 56641913 56641913 single base substitution C T intron_variant PACA-CA 14 56643017 56643017 single base substitution C T intron_variant PACA-CA 14 56647355 56647355 single base substitution T C intron_variant PACA-CA 14 56651545 56651545 single base substitution G A intron_variant PACA-CA 14 56653227 56653227 single base substitution C T intron_variant PACA-CA 14 56657215 56657215 single base substitution C A intron_variant PACA-CA 14 56657319 56657319 single base substitution G T intron_variant PACA-CA 14 56658751 56658751 single base substitution T G intron_variant PACA-CA 14 56659856 56659856 single base substitution G T intron_variant PACA-CA 14 56670178 56670178 single base substitution T A intron_variant PACA-CA 14 56673822 56673822 single base substitution G A intron_variant PACA-CA 14 56674051 56674051 single base substitution T C intron_variant PACA-CA 14 56675792 56675792 single base substitution C G intron_variant PACA-CA 14 56678630 56678630 single base substitution C T intron_variant PACA-CA 14 56678973 56678973 single base substitution G T intron_variant PACA-CA 14 56682371 56682403 deletion of <=200bp TGAGTTAAGGAGCATTTTAATTTCAAAATTAAC - intron_variant PACA-CA 14 56682894 56682894 single base substitution C G intron_variant PACA-CA 14 56683279 56683279 single base substitution C T intron_variant PACA-CA 14 56685763 56685763 insertion of <=200bp - T intron_variant PACA-CA 14 56697909 56697909 single base substitution C G intron_variant PACA-CA 14 56698699 56698699 single base substitution C A intron_variant PACA-CA 14 56701524 56701524 single base substitution A T intron_variant PACA-CA 14 56703700 56703700 single base substitution C G intron_variant PACA-CA 14 56713041 56713041 single base substitution G A intron_variant PACA-CA 14 56714281 56714281 single base substitution C A intron_variant PACA-CA 14 56715099 56715099 insertion of <=200bp - C intron_variant PACA-CA 14 56718662 56718662 insertion of <=200bp - T intron_variant PACA-CA 14 56721278 56721278 single base substitution C A intron_variant PACA-CA 14 56722223 56722223 single base substitution G T intron_variant PACA-CA 14 56722914 56722914 single base substitution G A intron_variant PACA-CA 14 56724791 56724791 deletion of <=200bp C - intron_variant PACA-CA 14 56728821 56728824 deletion of <=200bp AAAG - intron_variant PACA-CA 14 56733041 56733041 single base substitution A C intron_variant PACA-CA 14 56734683 56734683 single base substitution T A intron_variant PACA-CA 14 56735995 56735995 insertion of <=200bp - A intron_variant PACA-CA 14 56737658 56737658 single base substitution T G intron_variant PACA-CA 14 56740111 56740111 single base substitution G T intron_variant PACA-CA 14 56742049 56742049 single base substitution G A intron_variant PACA-CA 14 56743580 56743580 single base substitution C T intron_variant PACA-CA 14 56748780 56748780 single base substitution C G intron_variant PACA-CA 14 56750527 56750527 single base substitution A G intron_variant PACA-CA 14 56751181 56751181 single base substitution C A intron_variant PACA-CA 14 56756880 56756880 single base substitution C A intron_variant PACA-CA 14 56757896 56757900 deletion of <=200bp TCTTA - downstream_gene_variant PACA-CA 14 56757896 56757900 deletion of <=200bp TCTTA - intron_variant PACA-CA 14 56759249 56759249 single base substitution T C downstream_gene_variant PACA-CA 14 56759249 56759249 single base substitution T C intron_variant PACA-CA 14 56762440 56762440 single base substitution G A intron_variant PACA-CA 14 56763703 56763703 single base substitution C T missense_variant P361L 1082C>T PACA-CA 14 56765278 56765278 deletion of <=200bp T - 3_prime_UTR_variant PACA-CA 14 56768008 56768008 single base substitution G T 3_prime_UTR_variant PACA-CA 14 56772861 56772861 single base substitution C G downstream_gene_variant PAEN-AU 14 56585277 56585277 single base substitution A C 5_prime_UTR_variant PAEN-AU 14 56585277 56585277 single base substitution A C intron_variant PAEN-AU 14 56585277 56585277 single base substitution A C upstream_gene_variant PAEN-AU 14 56589717 56589717 single base substitution G T intron_variant PAEN-AU 14 56607743 56607743 single base substitution G T intron_variant PAEN-AU 14 56661183 56661183 single base substitution A G intron_variant PAEN-AU 14 56700012 56700012 single base substitution C G intron_variant PAEN-AU 14 56714319 56714319 single base substitution A G intron_variant PAEN-IT 14 56595803 56595803 single base substitution G A intron_variant PAEN-IT 14 56661773 56661773 single base substitution C G intron_variant PAEN-IT 14 56676731 56676731 single base substitution T G intron_variant PAEN-IT 14 56721997 56721997 single base substitution A T intron_variant PAEN-IT 14 56727991 56727991 single base substitution C A intron_variant PAEN-IT 14 56740525 56740525 single base substitution C T intron_variant PBCA-DE 14 56585465 56585465 single base substitution G A intron_variant PBCA-DE 14 56585465 56585465 single base substitution G A upstream_gene_variant PBCA-DE 14 56598787 56598787 single base substitution G T intron_variant PBCA-DE 14 56606198 56606198 single base substitution C A intron_variant PBCA-DE 14 56609064 56609064 single base substitution G A intron_variant PBCA-DE 14 56610327 56610327 single base substitution A G intron_variant PBCA-DE 14 56614436 56614436 single base substitution G A intron_variant PBCA-DE 14 56633921 56633921 single base substitution G A intron_variant PBCA-DE 14 56634068 56634068 deletion of <=200bp T - intron_variant PBCA-DE 14 56648496 56648496 single base substitution T C intron_variant PBCA-DE 14 56652447 56652447 insertion of <=200bp - T intron_variant PBCA-DE 14 56662089 56662089 single base substitution G A intron_variant PBCA-DE 14 56671556 56671556 single base substitution T C intron_variant PBCA-DE 14 56683695 56683695 single base substitution A G intron_variant PBCA-DE 14 56685443 56685443 single base substitution G T intron_variant PBCA-DE 14 56685445 56685445 single base substitution T G intron_variant PBCA-DE 14 56685869 56685869 insertion of <=200bp - T intron_variant PBCA-DE 14 56743613 56743613 single base substitution A G intron_variant PBCA-DE 14 56746261 56746261 insertion of <=200bp - A intron_variant PBCA-DE 14 56752990 56752990 single base substitution C T intron_variant PBCA-DE 14 56760978 56760978 single base substitution A G downstream_gene_variant PBCA-DE 14 56760978 56760978 single base substitution A G intron_variant PBCA-DE 14 56764742 56764742 single base substitution C A 3_prime_UTR_variant PRAD-CA 14 56624411 56624411 single base substitution G A intron_variant PRAD-CA 14 56634242 56634242 single base substitution T G intron_variant PRAD-CA 14 56640308 56640308 single base substitution A G intron_variant PRAD-CA 14 56640598 56640598 single base substitution G T intron_variant PRAD-CA 14 56642278 56642278 single base substitution T C intron_variant PRAD-CA 14 56650732 56650732 single base substitution C T intron_variant PRAD-CA 14 56685441 56685441 single base substitution G T intron_variant PRAD-CA 14 56695565 56695565 single base substitution A G intron_variant PRAD-CA 14 56741314 56741314 single base substitution T A intron_variant PRAD-CA 14 56741314 56741314 single base substitution T G intron_variant PRAD-CA 14 56747337 56747337 single base substitution C T intron_variant PRAD-UK 14 56587083 56587083 single base substitution G A intron_variant PRAD-UK 14 56590117 56590117 single base substitution T A intron_variant PRAD-UK 14 56593008 56593008 single base substitution C G intron_variant PRAD-UK 14 56596488 56596488 single base substitution C T intron_variant PRAD-UK 14 56597217 56597217 single base substitution G A intron_variant PRAD-UK 14 56611441 56611441 deletion of <=200bp T - intron_variant PRAD-UK 14 56627615 56627615 single base substitution G A intron_variant PRAD-UK 14 56629265 56629265 single base substitution C G intron_variant PRAD-UK 14 56629509 56629509 single base substitution A G intron_variant PRAD-UK 14 56637688 56637688 single base substitution G A intron_variant PRAD-UK 14 56639628 56639628 single base substitution T G intron_variant PRAD-UK 14 56639629 56639629 single base substitution T G intron_variant PRAD-UK 14 56647122 56647122 single base substitution G A intron_variant PRAD-UK 14 56650837 56650837 single base substitution G T intron_variant PRAD-UK 14 56654611 56654611 single base substitution G T intron_variant PRAD-UK 14 56655990 56655990 single base substitution A G intron_variant PRAD-UK 14 56667250 56667250 single base substitution T C intron_variant PRAD-UK 14 56671206 56671206 single base substitution G C intron_variant PRAD-UK 14 56684000 56684000 single base substitution G A intron_variant PRAD-UK 14 56696577 56696577 single base substitution T A intron_variant PRAD-UK 14 56699185 56699185 single base substitution A G intron_variant PRAD-UK 14 56713291 56713291 insertion of <=200bp - T intron_variant PRAD-UK 14 56713298 56713298 insertion of <=200bp - T intron_variant PRAD-UK 14 56716404 56716404 single base substitution A G intron_variant PRAD-UK 14 56724745 56724745 single base substitution G A intron_variant PRAD-UK 14 56730003 56730003 single base substitution C A intron_variant PRAD-UK 14 56731048 56731048 single base substitution C G intron_variant PRAD-UK 14 56733568 56733568 single base substitution G C intron_variant PRAD-UK 14 56749268 56749268 single base substitution G T intron_variant PRAD-UK 14 56750923 56750923 single base substitution C A intron_variant PRAD-US 14 56763645 56763645 single base substitution G T missense_variant G342C 1024G>T RECA-EU 14 56583202 56583202 single base substitution C T upstream_gene_variant RECA-EU 14 56593459 56593459 single base substitution T A intron_variant RECA-EU 14 56600093 56600093 single base substitution T A intron_variant RECA-EU 14 56632668 56632668 single base substitution T G intron_variant RECA-EU 14 56632750 56632750 single base substitution G A intron_variant RECA-EU 14 56639251 56639251 single base substitution G A intron_variant RECA-EU 14 56640058 56640058 single base substitution C G intron_variant RECA-EU 14 56658770 56658770 single base substitution G A intron_variant RECA-EU 14 56668182 56668182 single base substitution T C intron_variant RECA-EU 14 56669047 56669047 single base substitution G A intron_variant RECA-EU 14 56669743 56669743 single base substitution T G intron_variant RECA-EU 14 56672065 56672065 single base substitution A G intron_variant RECA-EU 14 56680265 56680265 single base substitution A T intron_variant RECA-EU 14 56681661 56681661 single base substitution G T intron_variant RECA-EU 14 56683973 56683973 single base substitution G A intron_variant RECA-EU 14 56684686 56684686 single base substitution C T intron_variant RECA-EU 14 56685084 56685084 single base substitution T C intron_variant RECA-EU 14 56685193 56685193 single base substitution T C intron_variant RECA-EU 14 56687084 56687084 single base substitution G A intron_variant RECA-EU 14 56708098 56708098 single base substitution G C intron_variant RECA-EU 14 56711944 56711944 single base substitution C A intron_variant RECA-EU 14 56717284 56717284 single base substitution A T intron_variant RECA-EU 14 56722590 56722590 single base substitution G C intron_variant RECA-EU 14 56739606 56739606 single base substitution C T intron_variant RECA-EU 14 56741689 56741689 single base substitution T C intron_variant RECA-EU 14 56746534 56746534 single base substitution T C intron_variant RECA-EU 14 56766943 56766943 single base substitution T A 3_prime_UTR_variant RECA-EU 14 56772174 56772174 single base substitution G T downstream_gene_variant SKCA-BR 14 56580448 56580448 single base substitution C A upstream_gene_variant SKCA-BR 14 56583266 56583266 single base substitution T C upstream_gene_variant SKCA-BR 14 56583718 56583722 deletion of <=200bp ATAAC - upstream_gene_variant SKCA-BR 14 56584389 56584389 single base substitution T C upstream_gene_variant SKCA-BR 14 56585470 56585470 single base substitution C T intron_variant SKCA-BR 14 56585470 56585470 single base substitution C T upstream_gene_variant SKCA-BR 14 56588651 56588651 insertion of <=200bp - TA intron_variant SKCA-BR 14 56592133 56592135 deletion of <=200bp CAG - intron_variant SKCA-BR 14 56604963 56604963 single base substitution C T intron_variant SKCA-BR 14 56617256 56617256 single base substitution T C intron_variant SKCA-BR 14 56627648 56627648 single base substitution A C intron_variant SKCA-BR 14 56628685 56628685 single base substitution C T intron_variant SKCA-BR 14 56632247 56632247 single base substitution C T intron_variant SKCA-BR 14 56633714 56633714 single base substitution A C intron_variant SKCA-BR 14 56634722 56634722 single base substitution T C intron_variant SKCA-BR 14 56634723 56634723 single base substitution T C intron_variant SKCA-BR 14 56640786 56640786 single base substitution A T intron_variant SKCA-BR 14 56643160 56643160 single base substitution T G intron_variant SKCA-BR 14 56649237 56649237 single base substitution T C intron_variant SKCA-BR 14 56657952 56657952 single base substitution A G intron_variant SKCA-BR 14 56661490 56661490 single base substitution G C intron_variant SKCA-BR 14 56671726 56671726 single base substitution C T intron_variant SKCA-BR 14 56678417 56678417 single base substitution A G intron_variant SKCA-BR 14 56679276 56679276 single base substitution C T intron_variant SKCA-BR 14 56680134 56680134 single base substitution G A intron_variant SKCA-BR 14 56680335 56680335 single base substitution G A intron_variant SKCA-BR 14 56685446 56685446 single base substitution T A intron_variant SKCA-BR 14 56688441 56688441 single base substitution T G intron_variant SKCA-BR 14 56690154 56690154 single base substitution T C intron_variant SKCA-BR 14 56698920 56698920 single base substitution C T intron_variant SKCA-BR 14 56699601 56699601 single base substitution C T intron_variant SKCA-BR 14 56701378 56701378 single base substitution T G intron_variant SKCA-BR 14 56703319 56703319 insertion of <=200bp - AT intron_variant SKCA-BR 14 56703655 56703655 single base substitution C T intron_variant SKCA-BR 14 56703983 56703983 single base substitution C A intron_variant SKCA-BR 14 56718296 56718296 single base substitution T C intron_variant SKCA-BR 14 56721536 56721536 single base substitution G A intron_variant SKCA-BR 14 56721606 56721606 single base substitution T C intron_variant SKCA-BR 14 56730820 56730820 single base substitution G A intron_variant SKCA-BR 14 56733020 56733020 single base substitution C T intron_variant SKCA-BR 14 56754711 56754711 single base substitution G A intron_variant SKCA-BR 14 56754822 56754822 single base substitution G A intron_variant SKCA-BR 14 56756327 56756327 single base substitution A C intron_variant SKCA-BR 14 56757245 56757245 single base substitution C T downstream_gene_variant SKCA-BR 14 56757245 56757245 single base substitution C T intron_variant SKCA-BR 14 56759693 56759693 single base substitution G C downstream_gene_variant SKCA-BR 14 56759693 56759693 single base substitution G C intron_variant SKCA-BR 14 56762471 56762471 single base substitution T C intron_variant SKCA-BR 14 56763353 56763353 single base substitution C T synonymous_variant S244S 732C>T SKCA-BR 14 56769088 56769088 single base substitution G A downstream_gene_variant SKCA-BR 14 56770424 56770424 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 14 56771271 56771271 single base substitution T C downstream_gene_variant SKCM-US 14 56585388 56585388 single base substitution C T intron_variant SKCM-US 14 56585388 56585388 single base substitution C T missense_variant P4S 10C>T SKCM-US 14 56585388 56585388 single base substitution C T upstream_gene_variant SKCM-US 14 56746398 56746398 single base substitution T G 5_prime_UTR_variant SKCM-US 14 56746398 56746398 single base substitution T G missense_variant I71S 212T>G SKCM-US 14 56755153 56755153 single base substitution A G splice_acceptor_variant SKCM-US 14 56755209 56755209 single base substitution G C missense_variant G122R 364G>C SKCM-US 14 56755209 56755209 single base substitution G C missense_variant G22R 64G>C SKCM-US 14 56755313 56755313 single base substitution C T synonymous_variant F156F 468C>T SKCM-US 14 56755313 56755313 single base substitution C T synonymous_variant F56F 168C>T SKCM-US 14 56755318 56755318 single base substitution C T missense_variant A158V 473C>T SKCM-US 14 56755318 56755318 single base substitution C T missense_variant A58V 173C>T SKCM-US 14 56757077 56757077 single base substitution C T downstream_gene_variant SKCM-US 14 56757077 56757077 single base substitution C T missense_variant T200I 599C>T SKCM-US 14 56757136 56757136 single base substitution T C downstream_gene_variant SKCM-US 14 56757136 56757136 single base substitution T C synonymous_variant L220L 658T>C SKCM-US 14 56757164 56757164 single base substitution G A downstream_gene_variant SKCM-US 14 56757164 56757164 single base substitution G A missense_variant R229Q 686G>A SKCM-US 14 56763339 56763339 single base substitution C T synonymous_variant L240L 718C>T SKCM-US 14 56763440 56763440 single base substitution C T synonymous_variant L273L 819C>T SKCM-US 14 56763774 56763774 single base substitution C T missense_variant P385S 1153C>T SKCM-US 14 56763866 56763866 single base substitution C T synonymous_variant F415F 1245C>T STAD-US 14 56645119 56645119 single base substitution G A 5_prime_UTR_variant STAD-US 14 56645119 56645119 single base substitution G A synonymous_variant R48R 144G>A STAD-US 14 56755227 56755227 single base substitution G A missense_variant E128K 382G>A STAD-US 14 56755227 56755227 single base substitution G A missense_variant E28K 82G>A STAD-US 14 56755305 56755305 single base substitution C T missense_variant R154W 460C>T STAD-US 14 56755305 56755305 single base substitution C T missense_variant R54W 160C>T STAD-US 14 56757012 56757012 single base substitution C T downstream_gene_variant STAD-US 14 56757012 56757012 single base substitution C T synonymous_variant P178P 534C>T STAD-US 14 56757012 56757012 single base substitution C T synonymous_variant P78P 234C>T STAD-US 14 56757067 56757067 deletion of <=200bp G - downstream_gene_variant STAD-US 14 56757067 56757067 deletion of <=200bp G - frameshift_variant G197 STAD-US 14 56757145 56757145 single base substitution A G downstream_gene_variant STAD-US 14 56757145 56757145 single base substitution A G missense_variant T223A 667A>G STAD-US 14 56757153 56757153 single base substitution G A downstream_gene_variant STAD-US 14 56757153 56757153 single base substitution G A synonymous_variant S225S 675G>A STAD-US 14 56757161 56757161 single base substitution A C downstream_gene_variant STAD-US 14 56757161 56757161 single base substitution A C missense_variant Q228P 683A>C STAD-US 14 56763566 56763566 single base substitution C T synonymous_variant H315H 945C>T STAD-US 14 56763702 56763702 single base substitution C T missense_variant P361S 1081C>T THCA-SA 14 56765746 56765746 single base substitution A G 3_prime_UTR_variant UCEC-US 14 56755201 56755201 single base substitution C T missense_variant T119M 356C>T UCEC-US 14 56755201 56755201 single base substitution C T missense_variant T19M 56C>T UCEC-US 14 56755227 56755227 single base substitution G A missense_variant E128K 382G>A UCEC-US 14 56755227 56755227 single base substitution G A missense_variant E28K 82G>A UCEC-US 14 56757008 56757008 single base substitution A G missense_variant N177S 530A>G UCEC-US 14 56757008 56757008 single base substitution A G missense_variant N77S 230A>G UCEC-US 14 56757106 56757106 single base substitution G A downstream_gene_variant UCEC-US 14 56757106 56757106 single base substitution G A missense_variant E210K 628G>A UCEC-US 14 56757108 56757108 single base substitution G T downstream_gene_variant UCEC-US 14 56757108 56757108 single base substitution G T missense_variant E210D 630G>T UCEC-US 14 56757152 56757152 single base substitution C T downstream_gene_variant UCEC-US 14 56757152 56757152 single base substitution C T missense_variant S225L 674C>T UCEC-US 14 56763543 56763543 single base substitution T G missense_variant W308G 922T>G UCEC-US 14 56763595 56763595 single base substitution G A missense_variant R325Q 974G>A UCEC-US 14 56763605 56763605 single base substitution G A synonymous_variant T328T 984G>A UCEC-US 14 56763732 56763732 single base substitution C T missense_variant H371Y 1111C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 2 COSM956407 c.922T>G p.W308G Substitution - Missense 14:56296825-56296825 + 11_FL COSM4051381 c.460C>T p.R154W Substitution - Missense 14:56288587-56288587 + TCGA-D1-A17Q-01 COSM956405 c.630G>T p.E210D Substitution - Missense 14:56290390-56290390 + ESO-601 COSM1261944 c.1217G>T p.G406V Substitution - Missense 14:56297120-56297120 + TCGA-37-5819-01 COSM698308 c.1017G>T p.R339S Substitution - Missense 14:56296920-56296920 + TCGA-AA-3833-01 COSM271463 c.567C>T p.G189G Substitution - coding silent 14:56290327-56290327 + TCGA-D9-A148-06 COSM3496473 c.468C>T p.F156F Substitution - coding silent 14:56288595-56288595 + TCGA-BS-A0UV-01 COSM956401 c.356C>T p.T119M Substitution - Missense 14:56288483-56288483 + TCGA-D7-A4Z0-01 COSM4051381 c.460C>T p.R154W Substitution - Missense 14:56288587-56288587 + BD114T COSM5504049 c.943C>A p.H315N Substitution - Missense 14:56296846-56296846 + TCGA-CG-4437-01 COSM4051384 c.683A>C p.Q228P Substitution - Missense 14:56290443-56290443 + RK088_C01 COSM3700880 c.1007C>T p.P336L Substitution - Missense 14:56296910-56296910 + TCGA-B5-A0JY-01 COSM956406 c.674C>T p.S225L Substitution - Missense 14:56290434-56290434 + LUAD-NYU259 COSM72147 c.842G>A p.R281Q Substitution - Missense 14:56296745-56296745 + RK089_C01 COSM1629346 c.921C>G p.P307P Substitution - coding silent 14:56296824-56296824 + TCGA-18-3415-01 COSM698309 c.610C>A p.Q204K Substitution - Missense 14:56290370-56290370 + BD23T COSM5495703 c.113G>T p.R38L Substitution - Missense 14:56178370-56178370 + TCGA-EE-A3AB-06 COSM3496476 c.658T>C p.L220L Substitution - coding silent 14:56290418-56290418 + TCGA-AR-A24S-01 COSM1477634 c.841C>T p.R281W Substitution - Missense 14:56296744-56296744 + TCGA-CJ-4916-01 COSM470046 c.573_574GG>TT p.L191>? Complex 14:56290333-56290334 + GC1_T COSM3748586 c.536A>C p.D179A Substitution - Missense 14:56290296-56290296 + LUAD-B00416 COSM330922 c.474C>T p.A158A Substitution - coding silent 14:56288601-56288601 + TCGA-BR-4256-01 COSM4051382 c.667A>G p.T223A Substitution - Missense 14:56290427-56290427 + BD72T COSM698310 c.568G>A p.V190I Substitution - Missense 14:56290328-56290328 + TCGA-D1-A103-01 COSM956402 c.382G>A p.E128K Substitution - Missense 14:56288509-56288509 + HT29 COSM4638517 c.888C>T p.I296I Substitution - coding silent 14:56296791-56296791 + TCGA-GF-A6C8-06 COSM3886127 c.10C>T p.P4S Substitution - Missense 14:56118670-56118670 + T3152 COSM4713596 c.1114G>A p.V372M Substitution - Missense 14:56297017-56297017 + TCGA-BR-8361-01 COSM4051386 c.1081C>T p.P361S Substitution - Missense 14:56296984-56296984 + DLD1 COSM1678002 c.142C>T p.R48W Substitution - Missense 14:56178399-56178399 + BD21T COSM5495547 c.40A>T p.K14* Substitution - Nonsense 14:56118700-56118700 + RK216_C01 COSM3744382 c.685C>T p.R229* Substitution - Nonsense 14:56290445-56290445 + CSCC-31-T COSM4480219 c.239C>T p.S80F Substitution - Missense 14:56279707-56279707 + TCGA-AP-A059-01 COSM956407 c.922T>G p.W308G Substitution - Missense 14:56296825-56296825 + TCGA-KK-A59V-01 COSM4878156 c.1024G>T p.G342C Substitution - Missense 14:56296927-56296927 + TCGA-D7-6817-01 COSM433160 c.534C>T p.P178P Substitution - coding silent 14:56290294-56290294 + Au5 COSM5436626 c.983C>T p.T328M Substitution - Missense 14:56296886-56296886 + 8016470 COSM3386586 c.1149G>T p.Q383H Substitution - Missense 14:56297052-56297052 + ESCC-110T COSM3936552 c.840C>T p.A280A Substitution - coding silent 14:56296743-56296743 + TCGA-EE-A29R-06 COSM3496471 c.310-2A>G p.? Unknown 14:56288435-56288435 + BK0097 COSM4189254 c.1176_1177insT p.H394fs*27 Insertion - Frameshift 14:56297079-56297080 + T36 COSM4713593 c.297G>A p.T99T Substitution - coding silent 14:56279765-56279765 + TCGA-AX-A0J1-01 COSM956409 c.1111C>T p.H371Y Substitution - Missense 14:56297014-56297014 + HCT15 COSM1678002 c.142C>T p.R48W Substitution - Missense 14:56178399-56178399 + HCT-15 COSM1678002 c.142C>T p.R48W Substitution - Missense 14:56178399-56178399 + 587234 COSM1220186 c.343G>A p.V115I Substitution - Missense 14:56288470-56288470 + CSCC-11-T COSM1607762 c.213C>T p.I71I Substitution - coding silent 14:56279681-56279681 + CSCC-37-T COSM4548215 c.441G>A p.R147R Substitution - coding silent 14:56288568-56288568 + LP6005690-DNA_D01 COSM4410197 c.786T>G p.F262L Substitution - Missense 14:56296689-56296689 + T3502 COSM271463 c.567C>T p.G189G Substitution - coding silent 14:56290327-56290327 + MO_1012 COSM5555257 c.953G>T p.G318V Substitution - Missense 14:56296856-56296856 + WT038-T2 COSM1477634 c.841C>T p.R281W Substitution - Missense 14:56296744-56296744 + TCGA-A8-A09Q-01 COSM433162 c.974G>A p.R325Q Substitution - Missense 14:56296877-56296877 + TCGA-CJ-4640-01 COSM1135585 c.552G>T p.G184G Substitution - coding silent 14:56290312-56290312 + 587238 COSM1220185 c.329G>A p.S110N Substitution - Missense 14:56288456-56288456 + S02350 COSM5694651 c.192G>T p.T64T Substitution - coding silent 14:56178449-56178449 + CHC1704T COSM1135585 c.552G>T p.G184G Substitution - coding silent 14:56290312-56290312 + TCGA-EE-A29R-06 COSM3496472 c.364G>C p.G122R Substitution - Missense 14:56288491-56288491 + TCGA-GN-A266-06 COSM3496477 c.718C>T p.L240L Substitution - coding silent 14:56296621-56296621 + TCGA-BC-A10Y-01 COSM4936666 c.228A>G p.Q76Q Substitution - coding silent 14:56279696-56279696 + S02297 COSM5689727 c.13G>A p.G5S Substitution - Missense 14:56118673-56118673 + TCGA-K4-A3WS-01 COSM3793744 c.213C>G p.I71M Substitution - Missense 14:56279681-56279681 + CHC1704T COSM1135585 c.552G>T p.G184G Substitution - coding silent 14:56290312-56290312 + 8013294 COSM1159124 c.459A>G p.A153A Substitution - coding silent 14:56288586-56288586 + CSCC-27-T COSM956402 c.382G>A p.E128K Substitution - Missense 14:56288509-56288509 + BD114T COSM5504050 c.945C>A p.H315Q Substitution - Missense 14:56296848-56296848 + CSCC-19-T COSM4567235 c.617_618GG>AA p.G206E Substitution - Missense 14:56290377-56290378 + TCGA-D9-A6EC-06 COSM4403191 c.686G>A p.R229Q Substitution - Missense 14:56290446-56290446 + TCGA-E2-A10C-01 COSM433161 c.601G>A p.E201K Substitution - Missense 14:56290361-56290361 + 4 COSM3734938 c.175G>A p.V59I Substitution - Missense 14:56178432-56178432 + pfg106T COSM698310 c.568G>A p.V190I Substitution - Missense 14:56290328-56290328 + TCGA-BR-A4QL-01 COSM4051380 c.144G>A p.R48R Substitution - coding silent 14:56178401-56178401 + CHC1154T COSM4952264 c.138C>A p.Y46* Substitution - Nonsense 14:56178395-56178395 + ESCC_107 COSM5638445 c.485C>G p.S162C Substitution - Missense 14:56288612-56288612 + TCGA-AP-A051-01 COSM433162 c.974G>A p.R325Q Substitution - Missense 14:56296877-56296877 + 11_tFL COSM4051381 c.460C>T p.R154W Substitution - Missense 14:56288587-56288587 + 522_T COSM3956094 c.1109G>T p.G370V Substitution - Missense 14:56297012-56297012 + LIM2551 COSM4643847 c.351A>G p.T117T Substitution - coding silent 14:56288478-56288478 + TCGA-G2-A2EL-01 COSM1300687 c.417C>T p.F139F Substitution - coding silent 14:56288544-56288544 + CHC1154T COSM4952264 c.138C>A p.Y46* Substitution - Nonsense 14:56178395-56178395 + BD236T COSM956408 c.984G>A p.T328T Substitution - coding silent 14:56296887-56296887 + T2269 COSM956406 c.674C>T p.S225L Substitution - Missense 14:56290434-56290434 + TCGA-A6-5665-01 COSM1370185 c.191C>T p.T64M Substitution - Missense 14:56178448-56178448 + TCGA-HU-A4G8-01 COSM4051385 c.945C>T p.H315H Substitution - coding silent 14:56296848-56296848 + BN38 COSM1607762 c.213C>T p.I71I Substitution - coding silent 14:56279681-56279681 + TCGA-AK-3425-01 COSM3361167 c.235A>G p.I79V Substitution - Missense 14:56279703-56279703 + tumor_4102009 COSM3356695 c.586C>T p.R196* Substitution - Nonsense 14:56290346-56290346 + CHOL53 COSM1744078 c.918G>A p.Q306Q Substitution - coding silent 14:56296821-56296821 + ICGC_0044 COSM1159124 c.459A>G p.A153A Substitution - coding silent 14:56288586-56288586 + TCGA-56-6546-01 COSM698310 c.568G>A p.V190I Substitution - Missense 14:56290328-56290328 + TCGA-D3-A3MV-06 COSM3496474 c.473C>T p.A158V Substitution - Missense 14:56288600-56288600 + RK088_C01 COSM3700879 c.494A>G p.N165S Substitution - Missense 14:56288621-56288621 + TCGA-AA-A00N-01 COSM72147 c.842G>A p.R281Q Substitution - Missense 14:56296745-56296745 + TCGA-EA-A3HQ-01 COSM4843165 c.275A>G p.E92G Substitution - Missense 14:56279743-56279743 + HCT8 COSM1678002 c.142C>T p.R48W Substitution - Missense 14:56178399-56178399 + TCGA-DA-A3F3-06 COSM1707370 c.1153C>T p.P385S Substitution - Missense 14:56297056-56297056 + T231 COSM433160 c.534C>T p.P178P Substitution - coding silent 14:56290294-56290294 + 6115114 COSM3356695 c.586C>T p.R196* Substitution - Nonsense 14:56290346-56290346 + BN38T COSM1607762 c.213C>T p.I71I Substitution - coding silent 14:56279681-56279681 + CHC1725T COSM4800774 c.339C>T p.D113D Substitution - coding silent 14:56288466-56288466 + PT32 COSM5907648 c.265G>T p.V89L Substitution - Missense 14:56279733-56279733 + CSCC-31-T COSM4458890 c.1102C>T p.P368S Substitution - Missense 14:56297005-56297005 + YUFARCI COSM1707370 c.1153C>T p.P385S Substitution - Missense 14:56297056-56297056 + BD178T COSM5500363 c.1162C>G p.H388D Substitution - Missense 14:56297065-56297065 + TCGA-GN-A26A-06 COSM3496478 c.819C>T p.L273L Substitution - coding silent 14:56296722-56296722 + ESCC_BICR_055T COSM5436626 c.983C>T p.T328M Substitution - Missense 14:56296886-56296886 + TCGA-FW-A3R5-06 COSM3886128 c.1245C>T p.F415F Substitution - coding silent 14:56297148-56297148 + T3064 COSM4713594 c.570C>T p.V190V Substitution - coding silent 14:56290330-56290330 + TCGA-AC-A23H-01 COSM3814964 c.801G>C p.Q267H Substitution - Missense 14:56296704-56296704 + Pat_24_A COSM5848216 c.835G>A p.A279T Substitution - Missense 14:56296738-56296738 + TCGA-BS-A0UV-01 COSM956404 c.628G>A p.E210K Substitution - Missense 14:56290388-56290388 + TCGA-CJ-4916-01 COSM470047 c.574G>T p.V192L Substitution - Missense 14:56290334-56290334 + T3149 COSM1678002 c.142C>T p.R48W Substitution - Missense 14:56178399-56178399 + ME011T COSM224467 c.525G>A p.W175* Substitution - Nonsense 14:56290285-56290285 + TCGA-BR-4362-01 COSM4051383 c.675G>A p.S225S Substitution - coding silent 14:56290435-56290435 + PCSI_0079_Pa_P COSM3377427 c.1082C>T p.P361L Substitution - Missense 14:56296985-56296985 + 3N59-VS-3T59 COSM4984176 c.32C>T p.A11V Substitution - Missense 14:56118692-56118692 + CHC361TB COSM3667686 c.125G>A p.R42K Substitution - Missense 14:56178382-56178382 + TCGA-66-2763-01 COSM698311 c.309+1G>T p.? Unknown 14:56279778-56279778 + TCGA-10-0926-01 COSM72147 c.842G>A p.R281Q Substitution - Missense 14:56296745-56296745 + T3021 COSM4713595 c.987G>T p.E329D Substitution - Missense 14:56296890-56296890 + RKO COSM4614742 c.526delA p.N177fs*16 Deletion - Frameshift 14:56290286-56290286 + TCGA-AP-A0LM-01 COSM956408 c.984G>A p.T328T Substitution - coding silent 14:56296887-56296887 + S01022 COSM5665725 c.538G>T p.G180C Substitution - Missense 14:56290298-56290298 + TCGA-AX-A05Z-01 COSM956403 c.530A>G p.N177S Substitution - Missense 14:56290290-56290290 + YUWAND COSM1707371 c.1180C>T p.H394Y Substitution - Missense 14:56297083-56297083 + TCGA-CJ-4916-01 COSM470045 c.573G>T p.L191L Substitution - coding silent 14:56290333-56290333 + CSCC-47-T COSM4553394 c.589G>A p.G197R Substitution - Missense 14:56290349-56290349 + TCGA-CG-5726-01 COSM956402 c.382G>A p.E128K Substitution - Missense 14:56288509-56288509 + TCGA-ER-A19L-06 COSM3496470 c.212T>G p.I71S Substitution - Missense 14:56279680-56279680 + CHC1725T COSM4800774 c.339C>T p.D113D Substitution - coding silent 14:56288466-56288466 + tumor_4135099 COSM3952937 c.840C>G p.A280A Substitution - coding silent 14:56296743-56296743 + TCGA-B8-4620-01 COSM1135584 c.135C>A p.L45L Substitution - coding silent 14:56178392-56178392 + LUAD-S01315 COSM344302 c.706G>A p.E236K Substitution - Missense 14:56296609-56296609 + TCGA-EB-A431-01 COSM3496475 c.599C>T p.T200I Substitution - Missense 14:56290359-56290359 + CSCC-17-T COSM4521503 c.1114G>C p.V372L Substitution - Missense 14:56297017-56297017 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.657921;Hs.657922;Hs.657924;Hs.657925;Hs.657926 14q21 614798

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.Q228P c.683A>C 14 56757161 STAD A G Missense p.I79V c.235A>G 14 56746421 RCCC A G Missense p.K176E c.526A>G 14 56757004 LUAD A G Missense p.K40E c.118A>G 14 56645093 LUAD A G Missense p.T223A c.667A>G 14 56757145 STAD A G SpliceAcceptorSNV . c.310-2A>G 14 56755153 CM A G Synonymous p.A153A c.459A>G 14 56755304 PAAD C A Missense p.Q204K c.610C>A 14 56757088 LUSC CC TT Missense p.S203F c.608_609delinsTT 14 56757086 CM C G Synonymous p.P307P c.921C>G 14 56763542 HC C T Missense p.A158V c.473C>T 14 56755318 CM C T Missense p.P362S c.1084C>T 14 56763705 LUAD C T Missense p.P385S c.1153C>T 14 56763774 CM C T Missense p.R281W c.841C>T 14 56763462 BRCA C T Missense p.T99M c.296C>T 14 56746482 LUAD C T Synonymous p.F139F c.417C>T 14 56755262 BLCA C T Synonymous p.F156F c.468C>T 14 56755313 CM C T Synonymous p.I131I c.393C>T 14 56755238 HNSC C T Synonymous p.L273L c.819C>T 14 56763440 CM C T Synonymous p.P178P c.534C>T 14 56757012 BRCA C T Synonymous p.P178P c.534C>T 14 56757012 STAD C T Synonymous p.T135T c.405C>T 14 56755250 LUAD G A Missense p.E128K c.382G>A 14 56755227 STAD G A Missense p.R281Q c.842G>A 14 56763463 OV G A Missense p.R325Q c.974G>A 14 56763595 BRCA G A Missense p.V190I c.568G>A 14 56757046 LUSC G A Nonsense p.W175* c.525G>A 14 56757003 CM G C Missense p.G122R c.364G>C 14 56755209 CM G T Missense p.G406V c.1217G>T 14 56763838 ESCA G T Missense p.R339S c.1017G>T 14 56763638 LUSC G T Missense p.V192L c.574G>T 14 56757052 RCCC G T Nonsense p.E234* c.700G>T 14 56763321 LUAD G T Nonsense p.G159* c.475G>T 14 56755320 HNSC G T SpliceDonorSNV . c.309+1G>T 14 56746496 LUSC G T Synonymous p.G184G c.552G>T 14 56757030 RCCC G T Synonymous p.L191L c.573G>T 14 56757051 RCCC T C Synonymous p.L220L c.658T>C 14 56757136 CM T G Missense p.I71S c.212T>G 14 56746398 CM