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 12 117187907 117187907 + Silent SNP T T C TCGA-OR-A5J2-01A-11D-A29I-10 TCGA-OR-A5J2-10A-01D-A29L-10 g.chr12:117187907T>C c.345T>C c.(343-345)caT>caC p.H115H ACC 12 117187907 117187907 + Silent SNP T T C TCGA-OR-A5KP-01A-11D-A30A-10 TCGA-OR-A5KP-10A-01D-A30A-10 g.chr12:117187907T>C c.345T>C c.(343-345)caT>caC p.H115H ACC 12 117187907 117187907 + Silent SNP T T C TCGA-OR-A5KV-01A-11D-A29I-10 TCGA-OR-A5KV-10A-01D-A29L-10 g.chr12:117187907T>C c.345T>C c.(343-345)caT>caC p.H115H ACC 12 117187907 117187907 + Silent SNP T T C TCGA-OR-A5L2-01A-11D-A30A-10 TCGA-OR-A5L2-10A-01D-A30A-10 g.chr12:117187907T>C c.345T>C c.(343-345)caT>caC p.H115H ACC 12 117187907 117187907 + Silent SNP T T C TCGA-OR-A5L9-01A-11D-A29I-10 TCGA-OR-A5L9-10B-01D-A29L-10 g.chr12:117187907T>C c.345T>C c.(343-345)caT>caC p.H115H ACC 12 117187907 117187907 + Silent SNP T T C TCGA-OR-A5LO-01A-11D-A29I-10 TCGA-OR-A5LO-10A-01D-A29L-10 g.chr12:117187907T>C c.345T>C c.(343-345)caT>caC p.H115H ACC 12 117187907 117187907 + Silent SNP T T C TCGA-P6-A5OH-01A-11D-A30A-10 TCGA-P6-A5OH-11A-01D-A30A-10 g.chr12:117187907T>C c.345T>C c.(343-345)caT>caC p.H115H ACC 12 117187919 117187919 + Silent SNP C C T TCGA-OR-A5L3-01A-11D-A29I-10 TCGA-OR-A5L3-10A-01D-A29L-10 g.chr12:117187919C>T c.357C>T c.(355-357)ggC>ggT p.G119G ACC 12 117187919 117187919 + Silent SNP C C T TCGA-OR-A5LO-01A-11D-A29I-10 TCGA-OR-A5LO-10A-01D-A29L-10 g.chr12:117187919C>T c.357C>T c.(355-357)ggC>ggT p.G119G ACC 12 117273791 117273791 + Silent SNP C C T TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr12:117273791C>T c.1059C>T c.(1057-1059)ggC>ggT p.G353G ACC 12 117273985 117273985 + Splice_Site SNP G G C TCGA-OR-A5K4-01A-11D-A29I-10 TCGA-OR-A5K4-10A-01D-A29L-10 g.chr12:117273985G>C c.e10-1 ACC 12 117274029 117274029 + Missense_Mutation SNP G G T TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr12:117274029G>T c.1142G>T c.(1141-1143)gGt>gTt p.G381V BLCA 12 117204652 117204652 + Silent SNP C C T TCGA-GU-A42P-01A-11D-A23U-08 TCGA-GU-A42P-10A-01D-A23U-08 g.chr12:117204652C>T c.661C>T c.(661-663)Ctg>Ttg p.L221L BLCA 12 117204665 117204665 + Missense_Mutation SNP C C T TCGA-FD-A3B4-01A-12D-A202-08 TCGA-FD-A3B4-10A-01D-A202-08 g.chr12:117204665C>T c.674C>T c.(673-675)gCg>gTg p.A225V BLCA 12 117217069 117217081 + Frame_Shift_Del DEL AGACTTTGTTCTG AGACTTTGTTCTG - TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 g.chr12:117217069_117217081delAGACTTTGTTCTG c.798_810delAGACTTTGTTCTG c.(796-810)gcagactttgttctgfs p.ADFVL266fs BLCA 12 117273771 117273771 + Missense_Mutation SNP G G A TCGA-XF-A9SJ-01A-11D-A391-08 TCGA-XF-A9SJ-10A-01D-A394-08 g.chr12:117273771G>A c.1039G>A c.(1039-1041)Gac>Aac p.D347N BLCA 12 117274059 117274059 + Missense_Mutation SNP T T C TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 g.chr12:117274059T>C c.1172T>C c.(1171-1173)tTc>tCc p.F391S BRCA 12 117178862 117178862 + Missense_Mutation SNP C C T TCGA-A2-A04N-01A-11D-A10Y-09 TCGA-A2-A04N-10A-01D-A110-09 g.chr12:117178862C>T c.46C>T c.(46-48)Cgc>Tgc p.R16C BRCA 12 117217071 117217071 + Missense_Mutation SNP A A C TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr12:117217071A>C c.800A>C c.(799-801)gAc>gCc p.D267A COAD 12 117187655 117187655 + Silent SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr12:117187655C>T c.93C>T c.(91-93)agC>agT p.S31S COAD 12 117204655 117204655 + Missense_Mutation SNP G G A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr12:117204655G>A c.664G>A c.(664-666)Gcc>Acc p.A222T COAD 12 117271670 117271670 + Missense_Mutation SNP A A C TCGA-AD-6888-01A-11D-1924-10 TCGA-AD-6888-10A-01D-1924-10 g.chr12:117271670A>C c.956A>C c.(955-957)aAa>aCa p.K319T COAD 12 117271710 117271710 + Silent SNP G G T TCGA-D5-6932-01A-11D-1924-10 TCGA-D5-6932-10A-01D-1924-10 g.chr12:117271710G>T c.996G>T c.(994-996)ctG>ctT p.L332L COAD 12 117271725 117271725 + Silent SNP C C T TCGA-AA-A02F-01A-01W-A00E-09 TCGA-AA-A02F-10A-01W-A00E-09 g.chr12:117271725C>T c.1011C>T c.(1009-1011)atC>atT p.I337I COAD 12 117274039 117274039 + Silent SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr12:117274039C>T c.1152C>T c.(1150-1152)tgC>tgT p.C384C COAD 12 117274039 117274039 + Silent SNP C C T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr12:117274039C>T c.1152C>T c.(1150-1152)tgC>tgT p.C384C COADREAD 12 117187655 117187655 + Silent SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr12:117187655C>T c.93C>T c.(91-93)agC>agT p.S31S COADREAD 12 117204655 117204655 + Missense_Mutation SNP G G A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr12:117204655G>A c.664G>A c.(664-666)Gcc>Acc p.A222T COADREAD 12 117271670 117271670 + Missense_Mutation SNP A A C TCGA-AD-6888-01A-11D-1924-10 TCGA-AD-6888-10A-01D-1924-10 g.chr12:117271670A>C c.956A>C c.(955-957)aAa>aCa p.K319T COADREAD 12 117271710 117271710 + Silent SNP G G T TCGA-D5-6932-01A-11D-1924-10 TCGA-D5-6932-10A-01D-1924-10 g.chr12:117271710G>T c.996G>T c.(994-996)ctG>ctT p.L332L COADREAD 12 117271725 117271725 + Silent SNP C C T TCGA-AA-A02F-01A-01W-A00E-09 TCGA-AA-A02F-10A-01W-A00E-09 g.chr12:117271725C>T c.1011C>T c.(1009-1011)atC>atT p.I337I COADREAD 12 117274039 117274039 + Silent SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr12:117274039C>T c.1152C>T c.(1150-1152)tgC>tgT p.C384C COADREAD 12 117274039 117274039 + Silent SNP C C T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr12:117274039C>T c.1152C>T c.(1150-1152)tgC>tgT p.C384C COADREAD 12 117287165 117287165 + Missense_Mutation SNP G G A TCGA-AG-3882-01A-01W-0899-10 TCGA-AG-3882-10A-01W-0901-10 g.chr12:117287165G>A c.1247G>A c.(1246-1248)cGc>cAc p.R416H ESCA 12 117187991 117187991 + Silent SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 g.chr12:117187991C>T c.429C>T c.(427-429)gaC>gaT p.D143D ESCA 12 117204678 117204678 + Silent SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 g.chr12:117204678C>G c.687C>G c.(685-687)ctC>ctG p.L229L GBM 12 117217036 117217036 + Silent SNP C C T TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 g.chr12:117217036C>T c.765C>T c.(763-765)gaC>gaT p.D255D GBMLGG 12 117217036 117217036 + Silent SNP C C T TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 g.chr12:117217036C>T c.765C>T c.(763-765)gaC>gaT p.D255D HNSC 12 117188112 117188112 + Splice_Site SNP G G A TCGA-CV-A45U-01A-12D-A24D-08 TCGA-CV-A45U-10A-01D-A24F-08 g.chr12:117188112G>A c.550G>A c.(550-552)Ggc>Agc p.G184S HNSC 12 117191824 117191824 + Missense_Mutation SNP G G A TCGA-UF-A7JT-01A-11D-A34J-08 TCGA-UF-A7JT-10A-01D-A34M-08 g.chr12:117191824G>A c.586G>A c.(586-588)Gcc>Acc p.A196T HNSC 12 117217096 117217096 + Silent SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 g.chr12:117217096C>T c.825C>T c.(823-825)atC>atT p.I275I KICH 12 117187907 117187907 + Silent SNP T T C TCGA-KO-8406-01A-11D-2310-10 TCGA-KO-8406-11A-01D-2311-10 g.chr12:117187907T>C c.345T>C c.(343-345)caT>caC p.H115H KIPAN 12 117178872 117178872 + Missense_Mutation SNP G G C TCGA-5P-A9KE-01A-11D-A42J-10 TCGA-5P-A9KE-10A-01D-A42M-10 g.chr12:117178872G>C c.56G>C c.(55-57)aGc>aCc p.S19T KIPAN 12 117187907 117187907 + Silent SNP T T C TCGA-KO-8406-01A-11D-2310-10 TCGA-KO-8406-11A-01D-2311-10 g.chr12:117187907T>C c.345T>C c.(343-345)caT>caC p.H115H KIRP 12 117178872 117178872 + Missense_Mutation SNP G G C TCGA-5P-A9KE-01A-11D-A42J-10 TCGA-5P-A9KE-10A-01D-A42M-10 g.chr12:117178872G>C c.56G>C c.(55-57)aGc>aCc p.S19T LIHC 12 117290508 117290508 + 3'UTR SNP A A G TCGA-BC-A3KG-01A-11D-A20W-10 TCGA-BC-A3KG-10A-01D-A20W-10 g.chr12:117290508A>G LUAD 12 117191859 117191859 + Silent SNP A A C TCGA-44-7667-01A-31D-2063-08 TCGA-44-7667-10A-01D-2063-08 g.chr12:117191859A>C c.621A>C c.(619-621)tcA>tcC p.S207S LUAD 12 117217093 117217093 + Silent SNP C C A TCGA-50-5946-01A-11D-1753-08 TCGA-50-5946-10A-01D-1753-08 g.chr12:117217093C>A c.822C>A c.(820-822)acC>acA p.T274T LUAD 12 117217136 117217137 + Frame_Shift_Ins INS - - T TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr12:117217136_117217137insT c.865_866insT c.(865-867)ctgfs p.L289fs LUAD 12 117271635 117271635 + Silent SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 g.chr12:117271635G>C c.921G>C c.(919-921)ctG>ctC p.L307L LUAD 12 117290463 117290463 + 3'UTR SNP G G A TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr12:117290463G>A LUSC 12 117287248 117287248 + Missense_Mutation SNP T T C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 g.chr12:117287248T>C c.1330T>C c.(1330-1332)Tac>Cac p.Y444H OV 12 117271726 117271726 + Missense_Mutation SNP G G C TCGA-24-1552-01A-01W-0551-08 TCGA-24-1552-10A-01W-0551-08 g.chr12:117271726G>C c.1012G>C c.(1012-1014)Gtt>Ctt p.V338L OV 12 117287151 117287151 + Missense_Mutation SNP G G C TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 g.chr12:117287151G>C c.1233G>C c.(1231-1233)tgG>tgC p.W411C PAAD 12 117187661 117187661 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:117187661G>A c.99G>A c.(97-99)gcG>gcA p.A33A PCPG 12 117187692 117187692 + Frame_Shift_Del DEL G G - TCGA-S7-A7WV-01A-11D-A35I-08 TCGA-S7-A7WV-10A-01D-A35G-08 g.chr12:117187692delG c.130delG c.(130-132)ggcfs p.G44fs READ 12 117287165 117287165 + Missense_Mutation SNP G G A TCGA-AG-3882-01A-01W-0899-10 TCGA-AG-3882-10A-01W-0901-10 g.chr12:117287165G>A c.1247G>A c.(1246-1248)cGc>cAc p.R416H SARC 12 117217132 117217132 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 g.chr12:117217132C>T c.861C>T c.(859-861)atC>atT p.I287I SKCM 12 117178899 117178899 + Splice_Site SNP G G A TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr12:117178899G>A c.83G>A c.(82-84)aGa>aAa p.R28K SKCM 12 117187910 117187910 + Silent SNP C C T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 g.chr12:117187910C>T c.348C>T c.(346-348)ttC>ttT p.F116F SKCM 12 117187937 117187937 + Silent SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr12:117187937C>T c.375C>T c.(373-375)tcC>tcT p.S125S SKCM 12 117191865 117191865 + Splice_Site SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:117191865G>A c.627G>A c.(625-627)aaG>aaA p.K209K SKCM 12 117217001 117217001 + Splice_Site SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr12:117217001C>T c.730C>T c.(730-732)Ctc>Ttc p.L244F SKCM 12 117217066 117217066 + Silent SNP C C T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 g.chr12:117217066C>T c.795C>T c.(793-795)atC>atT p.I265I SKCM 12 117217093 117217093 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 g.chr12:117217093C>T c.822C>T c.(820-822)acC>acT p.T274T SKCM 12 117271695 117271695 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:117271695C>T c.981C>T c.(979-981)tcC>tcT p.S327S SKCM 12 117271707 117271707 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 g.chr12:117271707C>T c.993C>T c.(991-993)ttC>ttT p.F331F SKCM 12 117273830 117273830 + Splice_Site SNP G G A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 g.chr12:117273830G>A c.1098G>A c.(1096-1098)caG>caA p.Q366Q

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 12 117271618 117271618 single base substitution G A 3_prime_UTR_variant BLCA-CN 12 117271618 117271618 single base substitution G A intron_variant BLCA-CN 12 117271618 117271618 single base substitution G A missense_variant E302K 904G>A BLCA-CN 12 117271618 117271618 single base substitution G A upstream_gene_variant BLCA-US 12 117175649 117175649 single base substitution G A upstream_gene_variant BLCA-US 12 117274059 117274059 single base substitution T C 3_prime_UTR_variant BLCA-US 12 117274059 117274059 single base substitution T C exon_variant BLCA-US 12 117274059 117274059 single base substitution T C intron_variant BLCA-US 12 117274059 117274059 single base substitution T C missense_variant F391S 1172T>C BRCA-EU 12 117172109 117172109 single base substitution C G upstream_gene_variant BRCA-EU 12 117173647 117173647 single base substitution C A upstream_gene_variant BRCA-EU 12 117173648 117173648 single base substitution C G upstream_gene_variant BRCA-EU 12 117174288 117174288 single base substitution T A upstream_gene_variant BRCA-EU 12 117175912 117175912 single base substitution G C upstream_gene_variant BRCA-EU 12 117176367 117176367 single base substitution C A intron_variant BRCA-EU 12 117177427 117177427 single base substitution A G intron_variant BRCA-EU 12 117177532 117177532 single base substitution G A intron_variant BRCA-EU 12 117178150 117178150 single base substitution G T splice_region_variant BRCA-EU 12 117180070 117180070 deletion of <=200bp C - downstream_gene_variant BRCA-EU 12 117180070 117180070 deletion of <=200bp C - intron_variant BRCA-EU 12 117180191 117180191 single base substitution C T downstream_gene_variant BRCA-EU 12 117180191 117180191 single base substitution C T intron_variant BRCA-EU 12 117180702 117180702 single base substitution A G downstream_gene_variant BRCA-EU 12 117180702 117180702 single base substitution A G intron_variant BRCA-EU 12 117183911 117183911 single base substitution G A intron_variant BRCA-EU 12 117184958 117184958 single base substitution C T intron_variant BRCA-EU 12 117185328 117185328 single base substitution G A intron_variant BRCA-EU 12 117185544 117185544 single base substitution A C intron_variant BRCA-EU 12 117186450 117186450 single base substitution C T intron_variant BRCA-EU 12 117186498 117186498 deletion of <=200bp G - exon_variant BRCA-EU 12 117186498 117186498 deletion of <=200bp G - intron_variant BRCA-EU 12 117186776 117186776 single base substitution A G intron_variant BRCA-EU 12 117188454 117188454 single base substitution G A intron_variant BRCA-EU 12 117188865 117188865 single base substitution G A intron_variant BRCA-EU 12 117189915 117189915 single base substitution G T intron_variant BRCA-EU 12 117192733 117192733 single base substitution C T intron_variant BRCA-EU 12 117192818 117192818 single base substitution T C intron_variant BRCA-EU 12 117194725 117194725 single base substitution G T intron_variant BRCA-EU 12 117195256 117195256 single base substitution A C intron_variant BRCA-EU 12 117195894 117195894 single base substitution C T intron_variant BRCA-EU 12 117195930 117195930 single base substitution C G intron_variant BRCA-EU 12 117196190 117196190 single base substitution G T intron_variant BRCA-EU 12 117196196 117196197 deletion of <=200bp TC - intron_variant BRCA-EU 12 117196355 117196355 single base substitution C G intron_variant BRCA-EU 12 117198629 117198629 single base substitution G C intron_variant BRCA-EU 12 117199567 117199567 single base substitution G A intron_variant BRCA-EU 12 117201420 117201420 single base substitution A T intron_variant BRCA-EU 12 117201806 117201806 single base substitution G A intron_variant BRCA-EU 12 117201807 117201807 single base substitution A C intron_variant BRCA-EU 12 117202287 117202287 single base substitution C T intron_variant BRCA-EU 12 117205880 117205880 single base substitution G C intron_variant BRCA-EU 12 117207675 117207675 deletion of <=200bp A - intron_variant BRCA-EU 12 117208481 117208481 single base substitution G C intron_variant BRCA-EU 12 117209331 117209331 single base substitution T A intron_variant BRCA-EU 12 117210636 117210636 single base substitution T C intron_variant BRCA-EU 12 117211237 117211237 single base substitution C G intron_variant BRCA-EU 12 117211353 117211353 single base substitution G A intron_variant BRCA-EU 12 117212218 117212218 single base substitution C T intron_variant BRCA-EU 12 117212291 117212291 single base substitution G A intron_variant BRCA-EU 12 117213234 117213234 single base substitution G A intron_variant BRCA-EU 12 117213309 117213309 single base substitution C G intron_variant BRCA-EU 12 117213370 117213370 single base substitution C G intron_variant BRCA-EU 12 117216085 117216085 single base substitution G C intron_variant BRCA-EU 12 117216900 117216900 single base substitution C G intron_variant BRCA-EU 12 117218716 117218716 single base substitution T A intron_variant BRCA-EU 12 117220009 117220009 deletion of <=200bp T - intron_variant BRCA-EU 12 117220638 117220638 single base substitution G C intron_variant BRCA-EU 12 117220778 117220778 single base substitution G C intron_variant BRCA-EU 12 117223501 117223501 single base substitution G C intron_variant BRCA-EU 12 117223643 117223643 single base substitution C T intron_variant BRCA-EU 12 117223700 117223700 insertion of <=200bp - A intron_variant BRCA-EU 12 117224034 117224034 single base substitution C G intron_variant BRCA-EU 12 117225088 117225088 single base substitution C T intron_variant BRCA-EU 12 117225305 117225305 single base substitution G A intron_variant BRCA-EU 12 117225408 117225408 single base substitution C A intron_variant BRCA-EU 12 117229146 117229146 single base substitution C T intron_variant BRCA-EU 12 117234825 117234825 single base substitution G A intron_variant BRCA-EU 12 117234907 117234907 single base substitution G A intron_variant BRCA-EU 12 117235026 117235026 single base substitution G T intron_variant BRCA-EU 12 117235265 117235265 single base substitution G A intron_variant BRCA-EU 12 117235671 117235671 single base substitution T C intron_variant BRCA-EU 12 117237491 117237491 deletion of <=200bp T - intron_variant BRCA-EU 12 117241369 117241369 single base substitution C A intron_variant BRCA-EU 12 117242302 117242302 single base substitution A G intron_variant BRCA-EU 12 117243086 117243086 single base substitution C A intron_variant BRCA-EU 12 117243580 117243580 single base substitution T C intron_variant BRCA-EU 12 117243935 117243935 single base substitution C T intron_variant BRCA-EU 12 117244351 117244351 single base substitution A G intron_variant BRCA-EU 12 117245558 117245558 single base substitution C A intron_variant BRCA-EU 12 117247486 117247486 deletion of <=200bp T - intron_variant BRCA-EU 12 117248314 117248314 single base substitution G C intron_variant BRCA-EU 12 117249234 117249234 single base substitution G A intron_variant BRCA-EU 12 117249821 117249821 single base substitution A G intron_variant BRCA-EU 12 117249871 117249871 single base substitution G A intron_variant BRCA-EU 12 117251126 117251126 single base substitution C A intron_variant BRCA-EU 12 117251244 117251244 single base substitution C G intron_variant BRCA-EU 12 117252755 117252755 single base substitution G A intron_variant BRCA-EU 12 117256529 117256529 single base substitution C G intron_variant BRCA-EU 12 117256872 117256872 single base substitution C T intron_variant BRCA-EU 12 117258019 117258019 single base substitution C A intron_variant BRCA-EU 12 117258379 117258379 single base substitution C A intron_variant BRCA-EU 12 117259236 117259236 single base substitution G T intron_variant BRCA-EU 12 117259327 117259327 single base substitution C G intron_variant BRCA-EU 12 117260306 117260306 single base substitution C G intron_variant BRCA-EU 12 117262718 117262718 single base substitution G C intron_variant BRCA-EU 12 117263278 117263278 single base substitution G A intron_variant BRCA-EU 12 117264506 117264506 single base substitution A C intron_variant BRCA-EU 12 117266572 117266572 single base substitution G A intron_variant BRCA-EU 12 117267083 117267083 single base substitution C A intron_variant BRCA-EU 12 117267728 117267728 single base substitution A C intron_variant BRCA-EU 12 117268677 117268677 single base substitution C T intron_variant BRCA-EU 12 117268799 117268799 single base substitution C G intron_variant BRCA-EU 12 117271290 117271290 single base substitution G A intron_variant BRCA-EU 12 117271290 117271290 single base substitution G A upstream_gene_variant BRCA-EU 12 117271628 117271628 single base substitution G A 3_prime_UTR_variant BRCA-EU 12 117271628 117271628 single base substitution G A intron_variant BRCA-EU 12 117271628 117271628 single base substitution G A missense_variant S305N 914G>A BRCA-EU 12 117271628 117271628 single base substitution G A upstream_gene_variant BRCA-EU 12 117272888 117272888 single base substitution C G intron_variant BRCA-EU 12 117272888 117272888 single base substitution C G upstream_gene_variant BRCA-EU 12 117273225 117273225 insertion of <=200bp - T intron_variant BRCA-EU 12 117273225 117273225 insertion of <=200bp - T upstream_gene_variant BRCA-EU 12 117273374 117273374 single base substitution G A intron_variant BRCA-EU 12 117273374 117273374 single base substitution G A upstream_gene_variant BRCA-EU 12 117273783 117273783 single base substitution C T 3_prime_UTR_variant BRCA-EU 12 117273783 117273783 single base substitution C T intron_variant BRCA-EU 12 117273783 117273783 single base substitution C T missense_variant R351C 1051C>T BRCA-EU 12 117273783 117273783 single base substitution C T upstream_gene_variant BRCA-EU 12 117274551 117274551 single base substitution G C intron_variant BRCA-EU 12 117274839 117274839 single base substitution T C intron_variant BRCA-EU 12 117275209 117275209 single base substitution G T intron_variant BRCA-EU 12 117275828 117275828 single base substitution A T intron_variant BRCA-EU 12 117278404 117278404 single base substitution C A intron_variant BRCA-EU 12 117278978 117278978 single base substitution C T intron_variant BRCA-EU 12 117279159 117279159 single base substitution G A intron_variant BRCA-EU 12 117282591 117282591 single base substitution A G intron_variant BRCA-EU 12 117283291 117283291 single base substitution C T intron_variant BRCA-EU 12 117284574 117284574 deletion of <=200bp T - intron_variant BRCA-EU 12 117286490 117286490 single base substitution G T intron_variant BRCA-EU 12 117286567 117286567 single base substitution G A intron_variant BRCA-EU 12 117287449 117287449 single base substitution G A 3_prime_UTR_variant BRCA-EU 12 117287449 117287449 single base substitution G A intron_variant BRCA-EU 12 117287752 117287752 single base substitution G A 3_prime_UTR_variant BRCA-EU 12 117287752 117287752 single base substitution G A intron_variant BRCA-EU 12 117287878 117287878 single base substitution G C 3_prime_UTR_variant BRCA-EU 12 117287878 117287878 single base substitution G C intron_variant BRCA-EU 12 117288579 117288579 single base substitution C T 3_prime_UTR_variant BRCA-EU 12 117288579 117288579 single base substitution C T intron_variant BRCA-EU 12 117290588 117290588 single base substitution C G 3_prime_UTR_variant BRCA-EU 12 117290588 117290588 single base substitution C G downstream_gene_variant BRCA-EU 12 117290588 117290588 single base substitution C G exon_variant BRCA-EU 12 117292135 117292135 single base substitution C A downstream_gene_variant BRCA-EU 12 117295272 117295272 single base substitution G C downstream_gene_variant BRCA-EU 12 117295996 117295996 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 117295996 117295996 single base substitution A C downstream_gene_variant BRCA-FR 12 117180702 117180702 single base substitution A G downstream_gene_variant BRCA-FR 12 117180702 117180702 single base substitution A G intron_variant BRCA-FR 12 117198629 117198629 single base substitution G C intron_variant BRCA-FR 12 117199791 117199791 single base substitution G C intron_variant BRCA-FR 12 117213234 117213234 single base substitution G A intron_variant BRCA-FR 12 117213309 117213309 single base substitution C G intron_variant BRCA-FR 12 117213370 117213370 single base substitution C G intron_variant BRCA-FR 12 117216085 117216085 single base substitution G C intron_variant BRCA-FR 12 117217222 117217222 single base substitution C G intron_variant BRCA-FR 12 117222018 117222018 single base substitution G A intron_variant BRCA-FR 12 117224034 117224034 single base substitution C G intron_variant BRCA-FR 12 117225088 117225088 single base substitution C T intron_variant BRCA-FR 12 117229146 117229146 single base substitution C T intron_variant BRCA-FR 12 117232069 117232069 single base substitution C G intron_variant BRCA-FR 12 117238037 117238037 single base substitution C T intron_variant BRCA-FR 12 117253185 117253185 single base substitution C T intron_variant BRCA-FR 12 117268799 117268799 single base substitution C G intron_variant BRCA-FR 12 117274551 117274551 single base substitution G C intron_variant BRCA-FR 12 117282064 117282064 single base substitution C T intron_variant BRCA-UK 12 117178150 117178150 single base substitution G T splice_region_variant BRCA-UK 12 117180191 117180191 single base substitution C T downstream_gene_variant BRCA-UK 12 117180191 117180191 single base substitution C T intron_variant BRCA-UK 12 117192733 117192733 single base substitution C T intron_variant BRCA-UK 12 117232236 117232236 single base substitution C T intron_variant BRCA-UK 12 117241402 117241402 single base substitution C T intron_variant BRCA-UK 12 117256529 117256529 single base substitution C G intron_variant BRCA-UK 12 117282746 117282746 single base substitution C G intron_variant BRCA-UK 12 117292135 117292135 single base substitution C A downstream_gene_variant BRCA-US 12 117178862 117178862 single base substitution C T downstream_gene_variant BRCA-US 12 117178862 117178862 single base substitution C T exon_variant BRCA-US 12 117178862 117178862 single base substitution C T missense_variant R16C 46C>T BRCA-US 12 117217071 117217071 single base substitution A C 3_prime_UTR_variant BRCA-US 12 117217071 117217071 single base substitution A C intron_variant BRCA-US 12 117217071 117217071 single base substitution A C missense_variant D267A 800A>C BRCA-US 12 117289613 117289613 single base substitution G C downstream_gene_variant BRCA-US 12 117289613 117289613 single base substitution G C intron_variant BRCA-US 12 117289613 117289613 single base substitution G C missense_variant G277A 830G>C BTCA-JP 12 117289560 117289560 single base substitution G A 3_prime_UTR_variant BTCA-JP 12 117289560 117289560 single base substitution G A intron_variant BTCA-JP 12 117289560 117289560 single base substitution G A synonymous_variant K259K 777G>A BTCA-JP 12 117290403 117290403 single base substitution C T 3_prime_UTR_variant BTCA-JP 12 117290403 117290403 single base substitution C T downstream_gene_variant BTCA-JP 12 117290403 117290403 single base substitution C T exon_variant BTCA-JP 12 117290403 117290403 single base substitution C T intron_variant CESC-US 12 117175742 117175742 single base substitution G C upstream_gene_variant CLLE-ES 12 117176090 117176090 single base substitution G C upstream_gene_variant CLLE-ES 12 117198654 117198654 single base substitution A G intron_variant CLLE-ES 12 117201920 117201920 single base substitution T C intron_variant CLLE-ES 12 117240710 117240710 single base substitution G T intron_variant CLLE-ES 12 117243273 117243273 single base substitution T G intron_variant CLLE-ES 12 117251211 117251211 single base substitution C T intron_variant CLLE-ES 12 117261396 117261396 single base substitution G A intron_variant CLLE-ES 12 117266237 117266237 single base substitution C A intron_variant CLLE-ES 12 117274104 117274104 single base substitution C T intron_variant COAD-US 12 117187655 117187655 single base substitution C T 3_prime_UTR_variant COAD-US 12 117187655 117187655 single base substitution C T synonymous_variant S31S 93C>T COAD-US 12 117187907 117187907 single base substitution T C 3_prime_UTR_variant COAD-US 12 117187907 117187907 single base substitution T C synonymous_variant H115H 345T>C COAD-US 12 117187919 117187919 single base substitution C T 3_prime_UTR_variant COAD-US 12 117187919 117187919 single base substitution C T synonymous_variant G119G 357C>T COAD-US 12 117271670 117271670 single base substitution A C 3_prime_UTR_variant COAD-US 12 117271670 117271670 single base substitution A C intron_variant COAD-US 12 117271670 117271670 single base substitution A C missense_variant K319T 956A>C COAD-US 12 117271670 117271670 single base substitution A C upstream_gene_variant COAD-US 12 117271710 117271710 single base substitution G T 3_prime_UTR_variant COAD-US 12 117271710 117271710 single base substitution G T intron_variant COAD-US 12 117271710 117271710 single base substitution G T synonymous_variant L332L 996G>T COAD-US 12 117271710 117271710 single base substitution G T upstream_gene_variant COAD-US 12 117287190 117287190 single base substitution C T intron_variant COAD-US 12 117287190 117287190 single base substitution C T synonymous_variant V424V 1272C>T COCA-CN 12 117191813 117191813 single base substitution C T 3_prime_UTR_variant COCA-CN 12 117191813 117191813 single base substitution C T missense_variant A192V 575C>T COCA-CN 12 117191990 117191990 single base substitution C T intron_variant COCA-CN 12 117217145 117217145 single base substitution A G 3_prime_UTR_variant COCA-CN 12 117217145 117217145 single base substitution A G intron_variant COCA-CN 12 117217145 117217145 single base substitution A G missense_variant K292E 874A>G COCA-CN 12 117217154 117217154 single base substitution G A intron_variant COCA-CN 12 117217154 117217154 single base substitution G A splice_donor_variant COCA-CN 12 117244198 117244198 single base substitution T G intron_variant COCA-CN 12 117244476 117244476 single base substitution A G intron_variant COCA-CN 12 117265139 117265139 single base substitution C T intron_variant COCA-CN 12 117273934 117273934 single base substitution C T intron_variant COCA-CN 12 117287258 117287258 single base substitution G A 3_prime_UTR_variant COCA-CN 12 117287258 117287258 single base substitution G A intron_variant COCA-CN 12 117289603 117289603 single base substitution A G downstream_gene_variant COCA-CN 12 117289603 117289603 single base substitution A G intron_variant COCA-CN 12 117289603 117289603 single base substitution A G missense_variant R274G 820A>G EOPC-DE 12 117213952 117213952 single base substitution G T intron_variant EOPC-DE 12 117227128 117227128 single base substitution A G intron_variant EOPC-DE 12 117229829 117229829 single base substitution C T intron_variant EOPC-DE 12 117283554 117283554 single base substitution G A intron_variant EOPC-DE 12 117290927 117290927 single base substitution G A 3_prime_UTR_variant EOPC-DE 12 117290927 117290927 single base substitution G A downstream_gene_variant EOPC-DE 12 117296373 117296373 single base substitution G T downstream_gene_variant ESAD-UK 12 117173068 117173068 single base substitution G T upstream_gene_variant ESAD-UK 12 117173714 117173714 single base substitution G A upstream_gene_variant ESAD-UK 12 117175676 117175676 single base substitution G A upstream_gene_variant ESAD-UK 12 117175974 117175974 single base substitution A C upstream_gene_variant ESAD-UK 12 117177804 117177804 single base substitution A C intron_variant ESAD-UK 12 117185623 117185623 single base substitution A C intron_variant ESAD-UK 12 117187516 117187516 single base substitution T G intron_variant ESAD-UK 12 117188554 117188554 single base substitution T A intron_variant ESAD-UK 12 117190023 117190023 single base substitution A T intron_variant ESAD-UK 12 117190158 117190158 single base substitution G A intron_variant ESAD-UK 12 117191321 117191321 single base substitution A T intron_variant ESAD-UK 12 117195400 117195400 single base substitution G T intron_variant ESAD-UK 12 117198249 117198249 single base substitution A G intron_variant ESAD-UK 12 117199025 117199025 single base substitution C T intron_variant ESAD-UK 12 117200485 117200485 single base substitution G A intron_variant ESAD-UK 12 117203592 117203592 single base substitution A G intron_variant ESAD-UK 12 117203661 117203661 single base substitution T C intron_variant ESAD-UK 12 117203926 117203926 single base substitution A T intron_variant ESAD-UK 12 117207306 117207306 single base substitution C A intron_variant ESAD-UK 12 117208383 117208383 single base substitution A T intron_variant ESAD-UK 12 117209062 117209062 single base substitution C T intron_variant ESAD-UK 12 117209371 117209371 deletion of <=200bp T - intron_variant ESAD-UK 12 117210062 117210062 single base substitution A G intron_variant ESAD-UK 12 117211941 117211941 deletion of <=200bp G - intron_variant ESAD-UK 12 117212880 117212880 single base substitution A C intron_variant ESAD-UK 12 117214993 117214993 single base substitution G T intron_variant ESAD-UK 12 117219711 117219711 single base substitution G A intron_variant ESAD-UK 12 117221223 117221223 single base substitution G C intron_variant ESAD-UK 12 117223160 117223160 single base substitution C T intron_variant ESAD-UK 12 117223337 117223337 single base substitution T G intron_variant ESAD-UK 12 117224205 117224205 single base substitution C T intron_variant ESAD-UK 12 117225531 117225531 single base substitution A T intron_variant ESAD-UK 12 117229818 117229818 single base substitution G A intron_variant ESAD-UK 12 117232128 117232128 single base substitution C A intron_variant ESAD-UK 12 117242672 117242672 single base substitution C T intron_variant ESAD-UK 12 117247487 117247487 single base substitution T C intron_variant ESAD-UK 12 117251046 117251046 single base substitution T C intron_variant ESAD-UK 12 117251112 117251112 single base substitution G T intron_variant ESAD-UK 12 117253420 117253420 single base substitution G C intron_variant ESAD-UK 12 117255592 117255592 single base substitution C T intron_variant ESAD-UK 12 117257085 117257085 single base substitution C A intron_variant ESAD-UK 12 117257098 117257098 single base substitution G C intron_variant ESAD-UK 12 117259374 117259374 single base substitution C T intron_variant ESAD-UK 12 117259474 117259474 single base substitution G A intron_variant ESAD-UK 12 117263999 117263999 single base substitution G A intron_variant ESAD-UK 12 117264239 117264239 single base substitution T C intron_variant ESAD-UK 12 117264658 117264658 single base substitution C T intron_variant ESAD-UK 12 117265553 117265553 single base substitution A C intron_variant ESAD-UK 12 117265952 117265952 single base substitution C T intron_variant ESAD-UK 12 117269843 117269843 single base substitution G T intron_variant ESAD-UK 12 117269843 117269843 single base substitution G T upstream_gene_variant ESAD-UK 12 117270368 117270368 single base substitution G A intron_variant ESAD-UK 12 117270368 117270368 single base substitution G A upstream_gene_variant ESAD-UK 12 117270381 117270381 single base substitution A T intron_variant ESAD-UK 12 117270381 117270381 single base substitution A T upstream_gene_variant ESAD-UK 12 117270526 117270526 single base substitution G A intron_variant ESAD-UK 12 117270526 117270526 single base substitution G A upstream_gene_variant ESAD-UK 12 117270594 117270594 single base substitution G A intron_variant ESAD-UK 12 117270594 117270594 single base substitution G A upstream_gene_variant ESAD-UK 12 117274055 117274055 single base substitution G A 3_prime_UTR_variant ESAD-UK 12 117274055 117274055 single base substitution G A exon_variant ESAD-UK 12 117274055 117274055 single base substitution G A intron_variant ESAD-UK 12 117274055 117274055 single base substitution G A missense_variant E390K 1168G>A ESAD-UK 12 117278037 117278037 single base substitution A C intron_variant ESAD-UK 12 117278451 117278451 single base substitution A T intron_variant ESAD-UK 12 117280778 117280778 single base substitution C T intron_variant ESAD-UK 12 117282069 117282069 single base substitution C T intron_variant ESAD-UK 12 117282174 117282174 single base substitution T C intron_variant ESAD-UK 12 117282239 117282239 single base substitution G A intron_variant ESAD-UK 12 117282459 117282459 deletion of <=200bp A - intron_variant ESAD-UK 12 117283658 117283658 single base substitution C T intron_variant ESAD-UK 12 117284098 117284098 single base substitution G A intron_variant ESAD-UK 12 117287430 117287430 single base substitution T C 3_prime_UTR_variant ESAD-UK 12 117287430 117287430 single base substitution T C intron_variant ESAD-UK 12 117288184 117288184 single base substitution T G 3_prime_UTR_variant ESAD-UK 12 117288184 117288184 single base substitution T G intron_variant ESAD-UK 12 117291431 117291431 single base substitution G C 3_prime_UTR_variant ESAD-UK 12 117291431 117291431 single base substitution G C downstream_gene_variant ESAD-UK 12 117291470 117291470 single base substitution C G downstream_gene_variant ESAD-UK 12 117292706 117292706 deletion of <=200bp C - downstream_gene_variant ESAD-UK 12 117294348 117294348 single base substitution T C downstream_gene_variant ESAD-UK 12 117294708 117294708 single base substitution C T downstream_gene_variant ESAD-UK 12 117295167 117295167 single base substitution G T downstream_gene_variant ESAD-UK 12 117295195 117295195 single base substitution A G downstream_gene_variant ESAD-UK 12 117295351 117295351 single base substitution C T downstream_gene_variant ESCA-CN 12 117271686 117271686 single base substitution C T 3_prime_UTR_variant ESCA-CN 12 117271686 117271686 single base substitution C T intron_variant ESCA-CN 12 117271686 117271686 single base substitution C T synonymous_variant D324D 972C>T ESCA-CN 12 117271686 117271686 single base substitution C T upstream_gene_variant ESCA-CN 12 117271731 117271731 single base substitution C G 3_prime_UTR_variant ESCA-CN 12 117271731 117271731 single base substitution C G intron_variant ESCA-CN 12 117271731 117271731 single base substitution C G synonymous_variant L339L 1017C>G ESCA-CN 12 117271731 117271731 single base substitution C G upstream_gene_variant GBM-US 12 117217036 117217036 single base substitution C T 3_prime_UTR_variant GBM-US 12 117217036 117217036 single base substitution C T intron_variant GBM-US 12 117217036 117217036 single base substitution C T synonymous_variant D255D 765C>T LAML-KR 12 117179031 117179031 single base substitution A C downstream_gene_variant LAML-KR 12 117179031 117179031 single base substitution A C intron_variant LAML-KR 12 117214741 117214741 single base substitution G T intron_variant LAML-KR 12 117226918 117226918 single base substitution G A intron_variant LAML-KR 12 117227139 117227139 single base substitution A G intron_variant LAML-KR 12 117227209 117227209 single base substitution A G intron_variant LAML-KR 12 117227673 117227673 single base substitution G A intron_variant LICA-FR 12 117187866 117187866 single base substitution G A 3_prime_UTR_variant LICA-FR 12 117187866 117187866 single base substitution G A missense_variant G102S 304G>A LICA-FR 12 117188010 117188010 single base substitution G C 3_prime_UTR_variant LICA-FR 12 117188010 117188010 single base substitution G C missense_variant A150P 448G>C LICA-FR 12 117200477 117200477 single base substitution C G intron_variant LICA-FR 12 117203926 117203926 single base substitution A G intron_variant LICA-FR 12 117204667 117204667 single base substitution G T 3_prime_UTR_variant LICA-FR 12 117204667 117204667 single base substitution G T missense_variant G226W 676G>T LICA-FR 12 117218713 117218713 single base substitution C A intron_variant LICA-FR 12 117226946 117226946 single base substitution A G intron_variant LICA-FR 12 117241482 117241482 single base substitution G A intron_variant LICA-FR 12 117257393 117257393 single base substitution G A intron_variant LICA-FR 12 117262135 117262135 single base substitution A C intron_variant LICA-FR 12 117278693 117278693 single base substitution T C intron_variant LICA-FR 12 117282871 117282871 single base substitution G T intron_variant LICA-FR 12 117284819 117284819 single base substitution T G intron_variant LICA-FR 12 117290402 117290402 single base substitution G C 3_prime_UTR_variant LICA-FR 12 117290402 117290402 single base substitution G C downstream_gene_variant LICA-FR 12 117290402 117290402 single base substitution G C exon_variant LICA-FR 12 117290402 117290402 single base substitution G C intron_variant LICA-FR 12 117290417 117290417 single base substitution G C 3_prime_UTR_variant LICA-FR 12 117290417 117290417 single base substitution G C downstream_gene_variant LICA-FR 12 117290417 117290417 single base substitution G C exon_variant LICA-FR 12 117290417 117290417 single base substitution G C intron_variant LINC-JP 12 117178368 117178368 single base substitution G C exon_variant LINC-JP 12 117178368 117178368 single base substitution G C intron_variant LINC-JP 12 117178380 117178380 single base substitution G C exon_variant LINC-JP 12 117178380 117178380 single base substitution G C intron_variant LINC-JP 12 117178413 117178413 single base substitution C A exon_variant LINC-JP 12 117178413 117178413 single base substitution C A intron_variant LINC-JP 12 117178658 117178658 single base substitution G T downstream_gene_variant LINC-JP 12 117178658 117178658 single base substitution G T intron_variant LINC-JP 12 117182453 117182453 single base substitution G A downstream_gene_variant LINC-JP 12 117182453 117182453 single base substitution G A intron_variant LINC-JP 12 117182927 117182927 single base substitution G A downstream_gene_variant LINC-JP 12 117182927 117182927 single base substitution G A intron_variant LINC-JP 12 117190013 117190013 single base substitution G A intron_variant LINC-JP 12 117191759 117191759 single base substitution G A intron_variant LINC-JP 12 117193581 117193581 single base substitution G C intron_variant LINC-JP 12 117204636 117204636 single base substitution G T 3_prime_UTR_variant LINC-JP 12 117204636 117204636 single base substitution G T synonymous_variant L215L 645G>T LINC-JP 12 117204637 117204637 single base substitution G T 3_prime_UTR_variant LINC-JP 12 117204637 117204637 single base substitution G T missense_variant V216F 646G>T LINC-JP 12 117216934 117216953 deletion of <=200bp GAGTAGAAGGAGCTGCTGAG - intron_variant LINC-JP 12 117216954 117216954 insertion of <=200bp - T intron_variant LINC-JP 12 117219037 117219037 single base substitution C A intron_variant LINC-JP 12 117219884 117219884 single base substitution C A intron_variant LINC-JP 12 117219926 117219926 single base substitution C G intron_variant LINC-JP 12 117229378 117229378 single base substitution G C intron_variant LINC-JP 12 117237385 117237385 insertion of <=200bp - T intron_variant LINC-JP 12 117237863 117237863 single base substitution C G intron_variant LINC-JP 12 117258261 117258261 single base substitution T C intron_variant LINC-JP 12 117263925 117263925 single base substitution C A intron_variant LINC-JP 12 117271788 117271788 single base substitution C T intron_variant LINC-JP 12 117271788 117271788 single base substitution C T upstream_gene_variant LINC-JP 12 117276286 117276286 single base substitution A G intron_variant LINC-JP 12 117282928 117282928 single base substitution A G intron_variant LINC-JP 12 117283230 117283230 single base substitution G C intron_variant LINC-JP 12 117284255 117284255 single base substitution G T intron_variant LINC-JP 12 117287082 117287082 single base substitution A G intron_variant LINC-JP 12 117289035 117289035 deletion of <=200bp T - 3_prime_UTR_variant LINC-JP 12 117289035 117289035 deletion of <=200bp T - intron_variant LIRI-JP 12 117172987 117172987 single base substitution C A upstream_gene_variant LIRI-JP 12 117178009 117178009 single base substitution A G intron_variant LIRI-JP 12 117178930 117178930 single base substitution G T downstream_gene_variant LIRI-JP 12 117178930 117178930 single base substitution G T intron_variant LIRI-JP 12 117180249 117180249 single base substitution A T downstream_gene_variant LIRI-JP 12 117180249 117180249 single base substitution A T intron_variant LIRI-JP 12 117180317 117180317 single base substitution C A downstream_gene_variant LIRI-JP 12 117180317 117180317 single base substitution C A intron_variant LIRI-JP 12 117184703 117184703 single base substitution C A intron_variant LIRI-JP 12 117186213 117186213 single base substitution T C intron_variant LIRI-JP 12 117189748 117189748 single base substitution C T intron_variant LIRI-JP 12 117196060 117196060 single base substitution G T intron_variant LIRI-JP 12 117199136 117199136 single base substitution A G intron_variant LIRI-JP 12 117200620 117200620 single base substitution T C intron_variant LIRI-JP 12 117201639 117201639 single base substitution C T intron_variant LIRI-JP 12 117202351 117202351 single base substitution C T intron_variant LIRI-JP 12 117203281 117203281 single base substitution G A intron_variant LIRI-JP 12 117203726 117203726 single base substitution A T intron_variant LIRI-JP 12 117203825 117203825 single base substitution C G intron_variant LIRI-JP 12 117204666 117204666 single base substitution G A 3_prime_UTR_variant LIRI-JP 12 117204666 117204666 single base substitution G A synonymous_variant A225A 675G>A LIRI-JP 12 117207367 117207367 single base substitution A G intron_variant LIRI-JP 12 117207590 117207590 single base substitution A G intron_variant LIRI-JP 12 117209803 117209803 single base substitution G C intron_variant LIRI-JP 12 117212028 117212028 single base substitution T G intron_variant LIRI-JP 12 117213709 117213709 single base substitution G A intron_variant LIRI-JP 12 117214360 117214360 single base substitution C A intron_variant LIRI-JP 12 117215141 117215141 single base substitution C T intron_variant LIRI-JP 12 117215267 117215267 single base substitution A T intron_variant LIRI-JP 12 117217543 117217543 single base substitution T C intron_variant LIRI-JP 12 117217864 117217864 single base substitution A G intron_variant LIRI-JP 12 117218791 117218791 single base substitution T C intron_variant LIRI-JP 12 117219711 117219711 single base substitution G A intron_variant LIRI-JP 12 117225096 117225096 single base substitution C T intron_variant LIRI-JP 12 117225343 117225343 single base substitution T C intron_variant LIRI-JP 12 117225699 117225699 single base substitution T G intron_variant LIRI-JP 12 117229621 117229621 single base substitution T G intron_variant LIRI-JP 12 117230823 117230823 single base substitution C G intron_variant LIRI-JP 12 117232079 117232079 single base substitution C T intron_variant LIRI-JP 12 117232905 117232905 single base substitution A G intron_variant LIRI-JP 12 117233321 117233321 single base substitution T A intron_variant LIRI-JP 12 117234066 117234066 single base substitution G T intron_variant LIRI-JP 12 117239138 117239138 single base substitution A G intron_variant LIRI-JP 12 117239297 117239297 single base substitution A G intron_variant LIRI-JP 12 117241269 117241269 single base substitution A G intron_variant LIRI-JP 12 117242411 117242411 single base substitution C A intron_variant LIRI-JP 12 117245672 117245672 single base substitution G A intron_variant LIRI-JP 12 117246027 117246027 single base substitution C T intron_variant LIRI-JP 12 117247283 117247283 single base substitution C A intron_variant LIRI-JP 12 117248482 117248482 single base substitution G T intron_variant LIRI-JP 12 117250487 117250487 single base substitution C T intron_variant LIRI-JP 12 117252231 117252231 single base substitution G T intron_variant LIRI-JP 12 117252793 117252793 single base substitution G A intron_variant LIRI-JP 12 117257836 117257836 single base substitution T A intron_variant LIRI-JP 12 117260199 117260199 single base substitution G T intron_variant LIRI-JP 12 117260840 117260840 single base substitution C T intron_variant LIRI-JP 12 117266295 117266295 single base substitution T A intron_variant LIRI-JP 12 117268031 117268031 single base substitution A G intron_variant LIRI-JP 12 117272239 117272239 single base substitution A G intron_variant LIRI-JP 12 117272239 117272239 single base substitution A G upstream_gene_variant LIRI-JP 12 117272280 117272280 single base substitution A G intron_variant LIRI-JP 12 117272280 117272280 single base substitution A G upstream_gene_variant LIRI-JP 12 117272857 117272857 single base substitution G T intron_variant LIRI-JP 12 117272857 117272857 single base substitution G T upstream_gene_variant LIRI-JP 12 117275520 117275520 single base substitution A C intron_variant LIRI-JP 12 117276507 117276507 single base substitution G C intron_variant LIRI-JP 12 117283415 117283415 single base substitution G A intron_variant LIRI-JP 12 117284929 117284929 single base substitution G A intron_variant LIRI-JP 12 117286261 117286261 single base substitution C T intron_variant LIRI-JP 12 117287198 117287198 single base substitution A G intron_variant LIRI-JP 12 117287198 117287198 single base substitution A G missense_variant D427G 1280A>G LIRI-JP 12 117288977 117288977 single base substitution C T 3_prime_UTR_variant LIRI-JP 12 117288977 117288977 single base substitution C T intron_variant LIRI-JP 12 117289585 117289585 single base substitution A G downstream_gene_variant LIRI-JP 12 117289585 117289585 single base substitution A G intron_variant LIRI-JP 12 117289585 117289585 single base substitution A G missense_variant K268E 802A>G LIRI-JP 12 117290417 117290417 single base substitution G T 3_prime_UTR_variant LIRI-JP 12 117290417 117290417 single base substitution G T downstream_gene_variant LIRI-JP 12 117290417 117290417 single base substitution G T exon_variant LIRI-JP 12 117290417 117290417 single base substitution G T intron_variant LIRI-JP 12 117291001 117291001 single base substitution G A 3_prime_UTR_variant LIRI-JP 12 117291001 117291001 single base substitution G A downstream_gene_variant LIRI-JP 12 117293725 117293725 single base substitution C G downstream_gene_variant LIRI-JP 12 117293858 117293858 single base substitution A C downstream_gene_variant LIRI-JP 12 117294177 117294177 single base substitution C T downstream_gene_variant LIRI-JP 12 117294584 117294584 single base substitution C A downstream_gene_variant LIRI-JP 12 117295013 117295013 single base substitution T G downstream_gene_variant LIRI-JP 12 117295204 117295204 single base substitution T C downstream_gene_variant LIRI-JP 12 117295897 117295897 single base substitution T C downstream_gene_variant LUSC-KR 12 117174440 117174440 single base substitution C G upstream_gene_variant LUSC-KR 12 117177877 117177877 single base substitution G T intron_variant LUSC-KR 12 117179372 117179372 single base substitution T A downstream_gene_variant LUSC-KR 12 117179372 117179372 single base substitution T A intron_variant LUSC-KR 12 117180081 117180081 single base substitution T A downstream_gene_variant LUSC-KR 12 117180081 117180081 single base substitution T A intron_variant LUSC-KR 12 117200403 117200403 single base substitution G T intron_variant LUSC-KR 12 117200724 117200724 single base substitution G C intron_variant LUSC-KR 12 117201142 117201142 single base substitution C A intron_variant LUSC-KR 12 117202937 117202937 single base substitution G C intron_variant LUSC-KR 12 117203800 117203800 single base substitution A G intron_variant LUSC-KR 12 117209682 117209682 single base substitution C T intron_variant LUSC-KR 12 117210299 117210299 single base substitution A G intron_variant LUSC-KR 12 117214036 117214036 single base substitution C T intron_variant LUSC-KR 12 117215645 117215645 single base substitution A T intron_variant LUSC-KR 12 117217713 117217713 single base substitution C A intron_variant LUSC-KR 12 117222085 117222085 single base substitution G A intron_variant LUSC-KR 12 117224563 117224563 single base substitution G T intron_variant LUSC-KR 12 117224915 117224915 single base substitution G C intron_variant LUSC-KR 12 117225965 117225965 single base substitution C T intron_variant LUSC-KR 12 117227146 117227146 single base substitution A G intron_variant LUSC-KR 12 117227456 117227456 single base substitution A G intron_variant LUSC-KR 12 117227673 117227673 single base substitution G A intron_variant LUSC-KR 12 117228365 117228365 single base substitution A T intron_variant LUSC-KR 12 117230135 117230135 single base substitution A G intron_variant LUSC-KR 12 117233898 117233898 single base substitution G C intron_variant LUSC-KR 12 117238163 117238163 single base substitution C T intron_variant LUSC-KR 12 117242727 117242727 single base substitution A G intron_variant LUSC-KR 12 117243530 117243530 single base substitution C T intron_variant LUSC-KR 12 117246849 117246849 single base substitution C T intron_variant LUSC-KR 12 117249916 117249916 single base substitution C G intron_variant LUSC-KR 12 117255209 117255209 single base substitution C A intron_variant LUSC-KR 12 117257486 117257486 single base substitution G T intron_variant LUSC-KR 12 117257755 117257755 single base substitution T C intron_variant LUSC-KR 12 117263353 117263353 single base substitution G A intron_variant LUSC-KR 12 117266093 117266093 single base substitution T C intron_variant LUSC-KR 12 117267627 117267627 single base substitution C A intron_variant LUSC-KR 12 117269016 117269016 single base substitution G A intron_variant LUSC-KR 12 117269016 117269016 single base substitution G A upstream_gene_variant LUSC-KR 12 117269279 117269279 single base substitution G T intron_variant LUSC-KR 12 117269279 117269279 single base substitution G T upstream_gene_variant LUSC-KR 12 117271523 117271523 single base substitution G A intron_variant LUSC-KR 12 117271523 117271523 single base substitution G A upstream_gene_variant LUSC-KR 12 117272439 117272439 single base substitution G A intron_variant LUSC-KR 12 117272439 117272439 single base substitution G A upstream_gene_variant LUSC-KR 12 117275828 117275828 single base substitution A T intron_variant LUSC-KR 12 117277838 117277838 single base substitution G T intron_variant LUSC-KR 12 117278133 117278133 single base substitution A G intron_variant LUSC-KR 12 117278767 117278767 single base substitution C A intron_variant LUSC-KR 12 117279880 117279880 single base substitution C T intron_variant LUSC-KR 12 117279993 117279993 single base substitution G T intron_variant LUSC-KR 12 117281181 117281181 single base substitution G A intron_variant LUSC-KR 12 117283063 117283063 single base substitution A T intron_variant LUSC-KR 12 117283692 117283692 single base substitution G T intron_variant LUSC-KR 12 117284265 117284265 single base substitution A G intron_variant LUSC-KR 12 117284321 117284321 single base substitution C T intron_variant LUSC-KR 12 117287279 117287279 single base substitution G C 3_prime_UTR_variant LUSC-KR 12 117287279 117287279 single base substitution G C intron_variant LUSC-KR 12 117287280 117287280 single base substitution G T 3_prime_UTR_variant LUSC-KR 12 117287280 117287280 single base substitution G T intron_variant LUSC-KR 12 117291341 117291341 single base substitution C G 3_prime_UTR_variant LUSC-KR 12 117291341 117291341 single base substitution C G downstream_gene_variant LUSC-KR 12 117292565 117292565 single base substitution G C downstream_gene_variant LUSC-US 12 117287248 117287248 single base substitution T C intron_variant LUSC-US 12 117287248 117287248 single base substitution T C missense_variant Y444H 1330T>C MALY-DE 12 117171241 117171241 deletion of <=200bp C - upstream_gene_variant MALY-DE 12 117171259 117171259 deletion of <=200bp A - upstream_gene_variant MALY-DE 12 117173905 117173905 single base substitution T A upstream_gene_variant MALY-DE 12 117190836 117190836 single base substitution G A intron_variant MALY-DE 12 117191255 117191255 single base substitution G T intron_variant MALY-DE 12 117191655 117191655 insertion of <=200bp - T intron_variant MALY-DE 12 117192298 117192298 single base substitution T C intron_variant MALY-DE 12 117199901 117199901 single base substitution G A intron_variant MALY-DE 12 117201720 117201720 single base substitution C A intron_variant MALY-DE 12 117204175 117204175 single base substitution C G intron_variant MALY-DE 12 117209417 117209417 single base substitution A C intron_variant MALY-DE 12 117212740 117212741 deletion of <=200bp AG - intron_variant MALY-DE 12 117213844 117213844 insertion of <=200bp - A intron_variant MALY-DE 12 117216928 117216928 single base substitution C T intron_variant MALY-DE 12 117222377 117222377 single base substitution A T intron_variant MALY-DE 12 117233677 117233677 single base substitution G A intron_variant MALY-DE 12 117238422 117238422 single base substitution G T intron_variant MALY-DE 12 117238424 117238424 single base substitution G C intron_variant MALY-DE 12 117241331 117241331 single base substitution A T intron_variant MALY-DE 12 117242090 117242090 single base substitution T G intron_variant MALY-DE 12 117251865 117251865 single base substitution A G intron_variant MALY-DE 12 117259446 117259446 single base substitution A G intron_variant MALY-DE 12 117267516 117267516 single base substitution C T intron_variant MALY-DE 12 117271087 117271087 single base substitution G A intron_variant MALY-DE 12 117271087 117271087 single base substitution G A upstream_gene_variant MALY-DE 12 117284440 117284440 single base substitution T G intron_variant MALY-DE 12 117286121 117286121 single base substitution T C intron_variant MELA-AU 12 117171346 117171346 single base substitution G A upstream_gene_variant MELA-AU 12 117172558 117172558 single base substitution G A upstream_gene_variant MELA-AU 12 117173555 117173555 single base substitution G A upstream_gene_variant MELA-AU 12 117174375 117174375 single base substitution A G upstream_gene_variant MELA-AU 12 117174420 117174420 single base substitution A G upstream_gene_variant MELA-AU 12 117174450 117174450 single base substitution G C upstream_gene_variant MELA-AU 12 117174830 117174830 single base substitution G A upstream_gene_variant MELA-AU 12 117175260 117175260 single base substitution G A upstream_gene_variant MELA-AU 12 117175374 117175374 single base substitution G A upstream_gene_variant MELA-AU 12 117175392 117175392 single base substitution G A upstream_gene_variant MELA-AU 12 117175951 117175951 single base substitution G A upstream_gene_variant MELA-AU 12 117175980 117175980 single base substitution G A upstream_gene_variant MELA-AU 12 117175981 117175981 single base substitution G A upstream_gene_variant MELA-AU 12 117175982 117175982 single base substitution G A upstream_gene_variant MELA-AU 12 117176048 117176048 single base substitution G A upstream_gene_variant MELA-AU 12 117176210 117176210 single base substitution C T intron_variant MELA-AU 12 117176562 117176562 single base substitution C T intron_variant MELA-AU 12 117176837 117176837 single base substitution G A intron_variant MELA-AU 12 117177369 117177369 single base substitution G A intron_variant MELA-AU 12 117177459 117177459 single base substitution C T intron_variant MELA-AU 12 117178394 117178394 single base substitution T A exon_variant MELA-AU 12 117178394 117178394 single base substitution T A intron_variant MELA-AU 12 117178939 117178939 single base substitution C T downstream_gene_variant MELA-AU 12 117178939 117178939 single base substitution C T intron_variant MELA-AU 12 117178952 117178952 single base substitution G A downstream_gene_variant MELA-AU 12 117178952 117178952 single base substitution G A intron_variant MELA-AU 12 117179148 117179148 single base substitution G A downstream_gene_variant MELA-AU 12 117179148 117179148 single base substitution G A intron_variant MELA-AU 12 117179197 117179198 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 117179197 117179198 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 117179418 117179418 single base substitution C T downstream_gene_variant MELA-AU 12 117179418 117179418 single base substitution C T intron_variant MELA-AU 12 117179422 117179422 single base substitution C T downstream_gene_variant MELA-AU 12 117179422 117179422 single base substitution C T intron_variant MELA-AU 12 117179681 117179682 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 12 117179681 117179682 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 117180348 117180348 single base substitution G A downstream_gene_variant MELA-AU 12 117180348 117180348 single base substitution G A intron_variant MELA-AU 12 117180399 117180399 single base substitution G A downstream_gene_variant MELA-AU 12 117180399 117180399 single base substitution G A intron_variant MELA-AU 12 117180443 117180443 single base substitution G A downstream_gene_variant MELA-AU 12 117180443 117180443 single base substitution G A intron_variant MELA-AU 12 117180800 117180800 single base substitution T C downstream_gene_variant MELA-AU 12 117180800 117180800 single base substitution T C intron_variant MELA-AU 12 117181448 117181448 single base substitution C T downstream_gene_variant MELA-AU 12 117181448 117181448 single base substitution C T intron_variant MELA-AU 12 117181521 117181521 single base substitution C T downstream_gene_variant MELA-AU 12 117181521 117181521 single base substitution C T intron_variant MELA-AU 12 117181564 117181564 single base substitution C T downstream_gene_variant MELA-AU 12 117181564 117181564 single base substitution C T intron_variant MELA-AU 12 117181689 117181689 single base substitution C T downstream_gene_variant MELA-AU 12 117181689 117181689 single base substitution C T intron_variant MELA-AU 12 117182267 117182267 single base substitution G A downstream_gene_variant MELA-AU 12 117182267 117182267 single base substitution G A intron_variant MELA-AU 12 117182671 117182671 single base substitution G A downstream_gene_variant MELA-AU 12 117182671 117182671 single base substitution G A intron_variant MELA-AU 12 117182802 117182802 single base substitution G A downstream_gene_variant MELA-AU 12 117182802 117182802 single base substitution G A intron_variant MELA-AU 12 117182963 117182963 single base substitution C T downstream_gene_variant MELA-AU 12 117182963 117182963 single base substitution C T intron_variant MELA-AU 12 117183143 117183143 single base substitution C T downstream_gene_variant MELA-AU 12 117183143 117183143 single base substitution C T intron_variant MELA-AU 12 117183598 117183598 single base substitution A G downstream_gene_variant MELA-AU 12 117183598 117183598 single base substitution A G intron_variant MELA-AU 12 117183800 117183800 single base substitution G T intron_variant MELA-AU 12 117183956 117183956 single base substitution C T intron_variant MELA-AU 12 117184514 117184514 single base substitution C T intron_variant MELA-AU 12 117184517 117184517 single base substitution C T intron_variant MELA-AU 12 117184642 117184642 single base substitution T A intron_variant MELA-AU 12 117184819 117184819 single base substitution C T intron_variant MELA-AU 12 117185087 117185087 single base substitution C T intron_variant MELA-AU 12 117185107 117185107 single base substitution C A intron_variant MELA-AU 12 117185164 117185164 single base substitution T C intron_variant MELA-AU 12 117185281 117185281 single base substitution G A intron_variant MELA-AU 12 117185822 117185822 single base substitution C T intron_variant MELA-AU 12 117186064 117186064 single base substitution C T intron_variant MELA-AU 12 117186205 117186205 single base substitution G A intron_variant MELA-AU 12 117186709 117186709 single base substitution C T intron_variant MELA-AU 12 117187084 117187084 single base substitution T C intron_variant MELA-AU 12 117187780 117187780 single base substitution C T 3_prime_UTR_variant MELA-AU 12 117187780 117187780 single base substitution C T missense_variant P73L 218C>T MELA-AU 12 117188064 117188064 single base substitution C T 3_prime_UTR_variant MELA-AU 12 117188064 117188064 single base substitution C T missense_variant P168S 502C>T MELA-AU 12 117188069 117188069 single base substitution C T 3_prime_UTR_variant MELA-AU 12 117188069 117188069 single base substitution C T synonymous_variant F169F 507C>T MELA-AU 12 117188365 117188365 single base substitution C T intron_variant MELA-AU 12 117189323 117189323 single base substitution C T intron_variant MELA-AU 12 117189627 117189627 single base substitution G A intron_variant MELA-AU 12 117189859 117189859 single base substitution C T intron_variant MELA-AU 12 117189952 117189952 single base substitution C T intron_variant MELA-AU 12 117190256 117190256 single base substitution T A intron_variant MELA-AU 12 117190710 117190710 single base substitution G A intron_variant MELA-AU 12 117190773 117190773 single base substitution T C intron_variant MELA-AU 12 117190829 117190829 single base substitution C T intron_variant MELA-AU 12 117191345 117191345 single base substitution C T intron_variant MELA-AU 12 117191450 117191450 single base substitution G A intron_variant MELA-AU 12 117191714 117191714 single base substitution C T intron_variant MELA-AU 12 117191945 117191945 single base substitution C T intron_variant MELA-AU 12 117192531 117192531 single base substitution C T intron_variant MELA-AU 12 117192884 117192884 single base substitution G A intron_variant MELA-AU 12 117193057 117193057 single base substitution C T intron_variant MELA-AU 12 117193232 117193232 single base substitution G A intron_variant MELA-AU 12 117193529 117193529 single base substitution C T intron_variant MELA-AU 12 117193656 117193656 single base substitution C T intron_variant MELA-AU 12 117193665 117193665 single base substitution C T intron_variant MELA-AU 12 117194178 117194178 single base substitution C T intron_variant MELA-AU 12 117194987 117194987 single base substitution C T intron_variant MELA-AU 12 117195615 117195615 single base substitution G A intron_variant MELA-AU 12 117195643 117195643 single base substitution C T intron_variant MELA-AU 12 117196082 117196082 single base substitution G A intron_variant MELA-AU 12 117196554 117196554 single base substitution C T intron_variant MELA-AU 12 117196564 117196564 single base substitution T C intron_variant MELA-AU 12 117196603 117196603 single base substitution C T intron_variant MELA-AU 12 117196977 117196977 single base substitution C T intron_variant MELA-AU 12 117197089 117197089 single base substitution C T intron_variant MELA-AU 12 117197119 117197119 single base substitution C T intron_variant MELA-AU 12 117197403 117197403 single base substitution C T intron_variant MELA-AU 12 117197458 117197458 single base substitution G A intron_variant MELA-AU 12 117197486 117197486 single base substitution G A intron_variant MELA-AU 12 117197746 117197746 single base substitution C T intron_variant MELA-AU 12 117197952 117197952 single base substitution G A intron_variant MELA-AU 12 117197955 117197955 single base substitution C T intron_variant MELA-AU 12 117197960 117197960 single base substitution C T intron_variant MELA-AU 12 117198081 117198081 single base substitution C T intron_variant MELA-AU 12 117198109 117198109 single base substitution C T intron_variant MELA-AU 12 117198454 117198454 single base substitution C T intron_variant MELA-AU 12 117198738 117198738 single base substitution C G intron_variant MELA-AU 12 117198832 117198832 single base substitution C T intron_variant MELA-AU 12 117198848 117198848 single base substitution C T intron_variant MELA-AU 12 117198912 117198912 single base substitution C T intron_variant MELA-AU 12 117199074 117199074 single base substitution C T intron_variant MELA-AU 12 117199207 117199208 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 117199290 117199290 single base substitution C T intron_variant MELA-AU 12 117199454 117199454 single base substitution C T intron_variant MELA-AU 12 117199464 117199464 single base substitution C T intron_variant MELA-AU 12 117199629 117199629 single base substitution C T intron_variant MELA-AU 12 117199931 117199931 single base substitution C T intron_variant MELA-AU 12 117199982 117199982 single base substitution G A intron_variant MELA-AU 12 117200028 117200028 single base substitution A T intron_variant MELA-AU 12 117200762 117200762 single base substitution C T intron_variant MELA-AU 12 117200764 117200764 single base substitution G T intron_variant MELA-AU 12 117201071 117201071 single base substitution G A intron_variant MELA-AU 12 117201249 117201249 single base substitution G A intron_variant MELA-AU 12 117201533 117201533 single base substitution G A intron_variant MELA-AU 12 117201845 117201845 single base substitution G A intron_variant MELA-AU 12 117201906 117201906 single base substitution T G intron_variant MELA-AU 12 117202238 117202238 single base substitution C T intron_variant MELA-AU 12 117202385 117202385 single base substitution C T intron_variant MELA-AU 12 117202531 117202531 single base substitution T A intron_variant MELA-AU 12 117202581 117202581 single base substitution C A intron_variant MELA-AU 12 117202744 117202744 single base substitution C T intron_variant MELA-AU 12 117203087 117203087 single base substitution T A intron_variant MELA-AU 12 117203401 117203401 single base substitution G A intron_variant MELA-AU 12 117203629 117203629 single base substitution G A intron_variant MELA-AU 12 117205220 117205220 single base substitution C T intron_variant MELA-AU 12 117205314 117205314 single base substitution C T intron_variant MELA-AU 12 117205368 117205368 single base substitution T C intron_variant MELA-AU 12 117205374 117205374 single base substitution T G intron_variant MELA-AU 12 117205419 117205419 single base substitution C T intron_variant MELA-AU 12 117205955 117205955 single base substitution G A intron_variant MELA-AU 12 117206559 117206559 single base substitution G A intron_variant MELA-AU 12 117206602 117206602 single base substitution C T intron_variant MELA-AU 12 117206604 117206604 single base substitution C T intron_variant MELA-AU 12 117206697 117206697 single base substitution G A intron_variant MELA-AU 12 117206989 117206989 single base substitution C T intron_variant MELA-AU 12 117208154 117208154 single base substitution C T intron_variant MELA-AU 12 117208697 117208697 single base substitution G A intron_variant MELA-AU 12 117208890 117208890 single base substitution C T intron_variant MELA-AU 12 117208918 117208918 single base substitution G A intron_variant MELA-AU 12 117209186 117209186 single base substitution G A intron_variant MELA-AU 12 117209698 117209698 single base substitution C T intron_variant MELA-AU 12 117209778 117209778 single base substitution C T intron_variant MELA-AU 12 117210007 117210007 single base substitution C T intron_variant MELA-AU 12 117210368 117210368 single base substitution C T intron_variant MELA-AU 12 117210409 117210409 single base substitution C T intron_variant MELA-AU 12 117210464 117210464 single base substitution A G intron_variant MELA-AU 12 117210574 117210574 single base substitution A G intron_variant MELA-AU 12 117210680 117210680 single base substitution T C intron_variant MELA-AU 12 117210902 117210902 single base substitution G A intron_variant MELA-AU 12 117211372 117211372 single base substitution G C intron_variant MELA-AU 12 117211772 117211772 single base substitution A G intron_variant MELA-AU 12 117212187 117212187 single base substitution C T intron_variant MELA-AU 12 117212251 117212251 single base substitution A C intron_variant MELA-AU 12 117213416 117213416 single base substitution G A intron_variant MELA-AU 12 117213438 117213438 single base substitution C T intron_variant MELA-AU 12 117214396 117214396 single base substitution C T intron_variant MELA-AU 12 117215020 117215020 single base substitution G A intron_variant MELA-AU 12 117215030 117215031 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 117215211 117215211 single base substitution C T intron_variant MELA-AU 12 117216268 117216268 single base substitution C T intron_variant MELA-AU 12 117216481 117216481 single base substitution C T intron_variant MELA-AU 12 117216760 117216760 single base substitution G A intron_variant MELA-AU 12 117217066 117217066 single base substitution C T 3_prime_UTR_variant MELA-AU 12 117217066 117217066 single base substitution C T intron_variant MELA-AU 12 117217066 117217066 single base substitution C T synonymous_variant I265I 795C>T MELA-AU 12 117217343 117217343 single base substitution C T intron_variant MELA-AU 12 117217383 117217383 single base substitution C T intron_variant MELA-AU 12 117217815 117217815 single base substitution G A intron_variant MELA-AU 12 117217970 117217970 single base substitution C T intron_variant MELA-AU 12 117218079 117218079 single base substitution C A intron_variant MELA-AU 12 117218121 117218121 single base substitution C T intron_variant MELA-AU 12 117218392 117218392 single base substitution C T intron_variant MELA-AU 12 117218536 117218537 multiple base substitution (>=2bp and <=200bp) AG GT intron_variant MELA-AU 12 117218616 117218616 single base substitution C T intron_variant MELA-AU 12 117218800 117218800 single base substitution C T intron_variant MELA-AU 12 117219133 117219133 single base substitution C T intron_variant MELA-AU 12 117219294 117219294 single base substitution C T intron_variant MELA-AU 12 117219736 117219736 single base substitution T C intron_variant MELA-AU 12 117219850 117219850 single base substitution C T intron_variant MELA-AU 12 117219909 117219909 single base substitution C T intron_variant MELA-AU 12 117220227 117220227 single base substitution G A intron_variant MELA-AU 12 117220472 117220472 single base substitution C T intron_variant MELA-AU 12 117220623 117220623 single base substitution C T intron_variant MELA-AU 12 117220683 117220684 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant MELA-AU 12 117220733 117220733 single base substitution C T intron_variant MELA-AU 12 117220982 117220982 single base substitution G A intron_variant MELA-AU 12 117221177 117221177 single base substitution C T intron_variant MELA-AU 12 117221501 117221501 single base substitution A G intron_variant MELA-AU 12 117221635 117221635 single base substitution C T intron_variant MELA-AU 12 117222147 117222147 single base substitution G A intron_variant MELA-AU 12 117222242 117222242 single base substitution C T intron_variant MELA-AU 12 117222289 117222289 single base substitution G A intron_variant MELA-AU 12 117222310 117222310 single base substitution G A intron_variant MELA-AU 12 117222734 117222734 single base substitution C T intron_variant MELA-AU 12 117223002 117223002 single base substitution T C intron_variant MELA-AU 12 117223968 117223968 single base substitution C T intron_variant MELA-AU 12 117224221 117224221 single base substitution C T intron_variant MELA-AU 12 117224420 117224420 single base substitution C T intron_variant MELA-AU 12 117224753 117224753 single base substitution G C intron_variant MELA-AU 12 117225010 117225010 single base substitution G A intron_variant MELA-AU 12 117225293 117225293 single base substitution T G intron_variant MELA-AU 12 117225719 117225719 single base substitution C T intron_variant MELA-AU 12 117225755 117225755 single base substitution G A intron_variant MELA-AU 12 117226111 117226111 single base substitution C T intron_variant MELA-AU 12 117227126 117227126 single base substitution G A intron_variant MELA-AU 12 117227383 117227383 single base substitution G A intron_variant MELA-AU 12 117227664 117227664 single base substitution G A intron_variant MELA-AU 12 117228646 117228646 single base substitution C A intron_variant MELA-AU 12 117228932 117228932 single base substitution C T intron_variant MELA-AU 12 117229311 117229311 single base substitution C T intron_variant MELA-AU 12 117230075 117230075 single base substitution G A intron_variant MELA-AU 12 117230107 117230107 single base substitution G A intron_variant MELA-AU 12 117230218 117230218 single base substitution C T intron_variant MELA-AU 12 117230524 117230524 single base substitution G A intron_variant MELA-AU 12 117230970 117230971 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 117231568 117231569 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 117231590 117231590 single base substitution A C intron_variant MELA-AU 12 117231850 117231850 single base substitution C T intron_variant MELA-AU 12 117231858 117231858 single base substitution C T intron_variant MELA-AU 12 117232297 117232297 single base substitution G A intron_variant MELA-AU 12 117232681 117232681 single base substitution T C intron_variant MELA-AU 12 117232951 117232951 single base substitution C T intron_variant MELA-AU 12 117233036 117233036 single base substitution C T intron_variant MELA-AU 12 117233070 117233070 single base substitution G C intron_variant MELA-AU 12 117233181 117233181 single base substitution C T intron_variant MELA-AU 12 117233581 117233581 single base substitution C A intron_variant MELA-AU 12 117234063 117234063 single base substitution C T intron_variant MELA-AU 12 117234113 117234113 single base substitution G A intron_variant MELA-AU 12 117234327 117234327 single base substitution G A intron_variant MELA-AU 12 117234414 117234415 multiple base substitution (>=2bp and <=200bp) TT AA intron_variant MELA-AU 12 117234421 117234421 single base substitution C T intron_variant MELA-AU 12 117234582 117234582 single base substitution G A intron_variant MELA-AU 12 117234993 117234993 single base substitution C T intron_variant MELA-AU 12 117235188 117235189 multiple base substitution (>=2bp and <=200bp) AA GG intron_variant MELA-AU 12 117235659 117235659 single base substitution C T intron_variant MELA-AU 12 117236150 117236150 single base substitution C T intron_variant MELA-AU 12 117236225 117236225 single base substitution G A intron_variant MELA-AU 12 117237015 117237015 single base substitution C T intron_variant MELA-AU 12 117237213 117237213 single base substitution C T intron_variant MELA-AU 12 117238049 117238050 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 12 117238618 117238618 insertion of <=200bp - TAAAATAAAA intron_variant MELA-AU 12 117239527 117239527 single base substitution C T intron_variant MELA-AU 12 117239676 117239676 single base substitution G A intron_variant MELA-AU 12 117239690 117239690 single base substitution G A intron_variant MELA-AU 12 117239781 117239781 single base substitution C T intron_variant MELA-AU 12 117239929 117239929 single base substitution T A intron_variant MELA-AU 12 117240332 117240332 single base substitution C T intron_variant MELA-AU 12 117240584 117240584 single base substitution C T intron_variant MELA-AU 12 117240591 117240591 single base substitution G A intron_variant MELA-AU 12 117240960 117240960 single base substitution G A intron_variant MELA-AU 12 117241147 117241147 single base substitution C T intron_variant MELA-AU 12 117241255 117241255 single base substitution C T intron_variant MELA-AU 12 117241481 117241481 single base substitution C T intron_variant MELA-AU 12 117241519 117241519 single base substitution G A intron_variant MELA-AU 12 117241523 117241523 single base substitution T C intron_variant MELA-AU 12 117241570 117241570 single base substitution G A intron_variant MELA-AU 12 117241868 117241868 single base substitution C T intron_variant MELA-AU 12 117242478 117242478 single base substitution G A intron_variant MELA-AU 12 117242655 117242655 single base substitution C T intron_variant MELA-AU 12 117242673 117242673 single base substitution G A intron_variant MELA-AU 12 117242870 117242870 single base substitution C T intron_variant MELA-AU 12 117244437 117244437 single base substitution G A intron_variant MELA-AU 12 117244902 117244902 single base substitution G A intron_variant MELA-AU 12 117245113 117245113 single base substitution G A intron_variant MELA-AU 12 117245280 117245280 single base substitution C T intron_variant MELA-AU 12 117245712 117245712 single base substitution G A intron_variant MELA-AU 12 117246084 117246084 single base substitution G A intron_variant MELA-AU 12 117246136 117246136 single base substitution C T intron_variant MELA-AU 12 117246497 117246497 single base substitution G A intron_variant MELA-AU 12 117246506 117246506 single base substitution C T intron_variant MELA-AU 12 117246601 117246601 single base substitution T C intron_variant MELA-AU 12 117247324 117247324 single base substitution C T intron_variant MELA-AU 12 117247784 117247784 single base substitution A T intron_variant MELA-AU 12 117248658 117248658 single base substitution C T intron_variant MELA-AU 12 117248694 117248694 single base substitution G A intron_variant MELA-AU 12 117248735 117248735 single base substitution A G intron_variant MELA-AU 12 117248776 117248776 single base substitution G A intron_variant MELA-AU 12 117248828 117248828 single base substitution G A intron_variant MELA-AU 12 117248891 117248891 single base substitution C T intron_variant MELA-AU 12 117248958 117248958 single base substitution C T intron_variant MELA-AU 12 117249062 117249062 single base substitution C T intron_variant MELA-AU 12 117249407 117249407 single base substitution C T intron_variant MELA-AU 12 117249914 117249914 single base substitution C T intron_variant MELA-AU 12 117250199 117250199 single base substitution C T intron_variant MELA-AU 12 117251652 117251652 single base substitution T C intron_variant MELA-AU 12 117251684 117251684 single base substitution C T intron_variant MELA-AU 12 117252191 117252191 single base substitution G A intron_variant MELA-AU 12 117252343 117252343 single base substitution G A intron_variant MELA-AU 12 117252658 117252658 single base substitution A G intron_variant MELA-AU 12 117253022 117253022 single base substitution C A intron_variant MELA-AU 12 117253315 117253315 single base substitution C T intron_variant MELA-AU 12 117253458 117253458 single base substitution C T intron_variant MELA-AU 12 117253585 117253585 single base substitution C T intron_variant MELA-AU 12 117253833 117253833 single base substitution T C intron_variant MELA-AU 12 117253839 117253839 single base substitution C T intron_variant MELA-AU 12 117254346 117254346 single base substitution C T intron_variant MELA-AU 12 117254432 117254432 single base substitution A G intron_variant MELA-AU 12 117254491 117254491 single base substitution G A intron_variant MELA-AU 12 117254693 117254693 single base substitution G A intron_variant MELA-AU 12 117256756 117256756 single base substitution G A intron_variant MELA-AU 12 117257490 117257490 single base substitution C T intron_variant MELA-AU 12 117257729 117257730 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 117258078 117258078 single base substitution G A intron_variant MELA-AU 12 117258107 117258107 single base substitution G A intron_variant MELA-AU 12 117258264 117258264 single base substitution C T intron_variant MELA-AU 12 117258951 117258951 single base substitution C T intron_variant MELA-AU 12 117259304 117259304 single base substitution C T intron_variant MELA-AU 12 117259514 117259514 single base substitution G T intron_variant MELA-AU 12 117259898 117259899 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 117260816 117260816 single base substitution G A intron_variant MELA-AU 12 117261049 117261049 single base substitution G A intron_variant MELA-AU 12 117261959 117261959 single base substitution C T intron_variant MELA-AU 12 117261962 117261962 single base substitution C T intron_variant MELA-AU 12 117262081 117262081 single base substitution C T intron_variant MELA-AU 12 117262108 117262108 single base substitution C T intron_variant MELA-AU 12 117262188 117262188 single base substitution G A intron_variant MELA-AU 12 117262264 117262264 single base substitution G A intron_variant MELA-AU 12 117262342 117262342 single base substitution C T intron_variant MELA-AU 12 117262343 117262344 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 117262419 117262419 single base substitution G A intron_variant MELA-AU 12 117262439 117262439 single base substitution C T intron_variant MELA-AU 12 117262525 117262526 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 117262555 117262555 single base substitution C T intron_variant MELA-AU 12 117262619 117262620 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 117262668 117262668 single base substitution G A intron_variant MELA-AU 12 117262956 117262956 single base substitution C T intron_variant MELA-AU 12 117263269 117263269 single base substitution C T intron_variant MELA-AU 12 117263613 117263613 single base substitution G A intron_variant MELA-AU 12 117263630 117263630 single base substitution C T intron_variant MELA-AU 12 117263730 117263730 single base substitution T G intron_variant MELA-AU 12 117264126 117264126 single base substitution C T intron_variant MELA-AU 12 117264311 117264311 single base substitution T G intron_variant MELA-AU 12 117264822 117264822 single base substitution C T intron_variant MELA-AU 12 117264939 117264939 single base substitution C T intron_variant MELA-AU 12 117264979 117264979 single base substitution C T intron_variant MELA-AU 12 117265548 117265548 single base substitution G A intron_variant MELA-AU 12 117265620 117265620 single base substitution C T intron_variant MELA-AU 12 117265728 117265728 single base substitution C T intron_variant MELA-AU 12 117265891 117265891 single base substitution C A intron_variant MELA-AU 12 117265952 117265952 single base substitution C T intron_variant MELA-AU 12 117265985 117265985 single base substitution C T intron_variant MELA-AU 12 117266237 117266237 single base substitution C T intron_variant MELA-AU 12 117266238 117266238 single base substitution C T intron_variant MELA-AU 12 117266433 117266433 single base substitution C T intron_variant MELA-AU 12 117266448 117266448 single base substitution G A intron_variant MELA-AU 12 117266838 117266838 single base substitution C T intron_variant MELA-AU 12 117267166 117267166 single base substitution C T intron_variant MELA-AU 12 117267264 117267264 single base substitution C T intron_variant MELA-AU 12 117268330 117268330 single base substitution G A intron_variant MELA-AU 12 117268331 117268331 single base substitution G A intron_variant MELA-AU 12 117269382 117269382 single base substitution C T intron_variant MELA-AU 12 117269382 117269382 single base substitution C T upstream_gene_variant MELA-AU 12 117269861 117269861 single base substitution G A intron_variant MELA-AU 12 117269861 117269861 single base substitution G A upstream_gene_variant MELA-AU 12 117270534 117270534 single base substitution C T intron_variant MELA-AU 12 117270534 117270534 single base substitution C T upstream_gene_variant MELA-AU 12 117270572 117270572 single base substitution C T intron_variant MELA-AU 12 117270572 117270572 single base substitution C T upstream_gene_variant MELA-AU 12 117270981 117270981 single base substitution C T intron_variant MELA-AU 12 117270981 117270981 single base substitution C T upstream_gene_variant MELA-AU 12 117271087 117271087 single base substitution G A intron_variant MELA-AU 12 117271087 117271087 single base substitution G A upstream_gene_variant MELA-AU 12 117271091 117271091 single base substitution G A intron_variant MELA-AU 12 117271091 117271091 single base substitution G A upstream_gene_variant MELA-AU 12 117271304 117271304 single base substitution C T intron_variant MELA-AU 12 117271304 117271304 single base substitution C T upstream_gene_variant MELA-AU 12 117271439 117271439 single base substitution C T intron_variant MELA-AU 12 117271439 117271439 single base substitution C T upstream_gene_variant MELA-AU 12 117271590 117271590 single base substitution G A intron_variant MELA-AU 12 117271590 117271590 single base substitution G A splice_region_variant MELA-AU 12 117271590 117271590 single base substitution G A upstream_gene_variant MELA-AU 12 117271794 117271794 single base substitution C T intron_variant MELA-AU 12 117271794 117271794 single base substitution C T upstream_gene_variant MELA-AU 12 117272592 117272592 single base substitution C T intron_variant MELA-AU 12 117272592 117272592 single base substitution C T upstream_gene_variant MELA-AU 12 117272774 117272774 single base substitution C T intron_variant MELA-AU 12 117272774 117272774 single base substitution C T upstream_gene_variant MELA-AU 12 117273233 117273233 single base substitution C T intron_variant MELA-AU 12 117273233 117273233 single base substitution C T upstream_gene_variant MELA-AU 12 117273235 117273235 single base substitution C T intron_variant MELA-AU 12 117273235 117273235 single base substitution C T upstream_gene_variant MELA-AU 12 117273467 117273467 single base substitution G A intron_variant MELA-AU 12 117273467 117273467 single base substitution G A upstream_gene_variant MELA-AU 12 117273482 117273482 single base substitution C T intron_variant MELA-AU 12 117273482 117273482 single base substitution C T upstream_gene_variant MELA-AU 12 117273694 117273694 single base substitution G A intron_variant MELA-AU 12 117273694 117273694 single base substitution G A upstream_gene_variant MELA-AU 12 117274162 117274162 single base substitution C T intron_variant MELA-AU 12 117274206 117274206 single base substitution G A intron_variant MELA-AU 12 117274300 117274300 single base substitution C T intron_variant MELA-AU 12 117274309 117274309 single base substitution A T intron_variant MELA-AU 12 117274351 117274351 single base substitution C T intron_variant MELA-AU 12 117274437 117274437 single base substitution G A intron_variant MELA-AU 12 117274527 117274527 single base substitution C T intron_variant MELA-AU 12 117274544 117274544 single base substitution A G intron_variant MELA-AU 12 117274906 117274906 single base substitution G T intron_variant MELA-AU 12 117274952 117274952 single base substitution C T intron_variant MELA-AU 12 117275101 117275101 single base substitution C T intron_variant MELA-AU 12 117275528 117275528 single base substitution T C intron_variant MELA-AU 12 117275569 117275569 single base substitution A T intron_variant MELA-AU 12 117275657 117275657 single base substitution G A intron_variant MELA-AU 12 117276076 117276077 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 117276435 117276435 single base substitution C T intron_variant MELA-AU 12 117277120 117277120 single base substitution G A intron_variant MELA-AU 12 117277338 117277338 single base substitution G A intron_variant MELA-AU 12 117278080 117278080 single base substitution C T intron_variant MELA-AU 12 117278083 117278083 single base substitution C T intron_variant MELA-AU 12 117278112 117278112 single base substitution G A intron_variant MELA-AU 12 117278263 117278263 single base substitution C T intron_variant MELA-AU 12 117278286 117278286 single base substitution G A intron_variant MELA-AU 12 117278758 117278758 single base substitution T A intron_variant MELA-AU 12 117278789 117278789 single base substitution C T intron_variant MELA-AU 12 117279765 117279765 single base substitution G T intron_variant MELA-AU 12 117279897 117279897 single base substitution A T intron_variant MELA-AU 12 117279941 117279941 single base substitution C T intron_variant MELA-AU 12 117280638 117280638 single base substitution C T intron_variant MELA-AU 12 117280956 117280956 single base substitution T C intron_variant MELA-AU 12 117281390 117281390 single base substitution C T intron_variant MELA-AU 12 117281496 117281496 single base substitution C T intron_variant MELA-AU 12 117281756 117281756 single base substitution C T intron_variant MELA-AU 12 117281989 117281989 single base substitution G A intron_variant MELA-AU 12 117282021 117282021 single base substitution G A intron_variant MELA-AU 12 117282275 117282275 single base substitution C T intron_variant MELA-AU 12 117282628 117282628 single base substitution C T intron_variant MELA-AU 12 117282978 117282978 single base substitution G A intron_variant MELA-AU 12 117282991 117282991 single base substitution G A intron_variant MELA-AU 12 117283079 117283079 single base substitution T G intron_variant MELA-AU 12 117283081 117283081 single base substitution G T intron_variant MELA-AU 12 117283083 117283083 single base substitution G T intron_variant MELA-AU 12 117283164 117283164 single base substitution G A intron_variant MELA-AU 12 117283692 117283692 single base substitution G A intron_variant MELA-AU 12 117283700 117283700 single base substitution C T intron_variant MELA-AU 12 117283710 117283710 single base substitution G A intron_variant MELA-AU 12 117284916 117284916 single base substitution G C intron_variant MELA-AU 12 117285019 117285019 single base substitution G A intron_variant MELA-AU 12 117285234 117285234 single base substitution G A intron_variant MELA-AU 12 117285423 117285423 single base substitution C T intron_variant MELA-AU 12 117285531 117285531 single base substitution C T intron_variant MELA-AU 12 117286034 117286034 single base substitution C T intron_variant MELA-AU 12 117286220 117286220 single base substitution C T intron_variant MELA-AU 12 117286549 117286549 single base substitution C T intron_variant MELA-AU 12 117286939 117286939 single base substitution C T intron_variant MELA-AU 12 117287327 117287327 single base substitution G C 3_prime_UTR_variant MELA-AU 12 117287327 117287327 single base substitution G C intron_variant MELA-AU 12 117287427 117287427 single base substitution C T 3_prime_UTR_variant MELA-AU 12 117287427 117287427 single base substitution C T intron_variant MELA-AU 12 117287472 117287472 single base substitution G A 3_prime_UTR_variant MELA-AU 12 117287472 117287472 single base substitution G A intron_variant MELA-AU 12 117288082 117288082 single base substitution C T 3_prime_UTR_variant MELA-AU 12 117288082 117288082 single base substitution C T intron_variant MELA-AU 12 117288181 117288181 single base substitution G A 3_prime_UTR_variant MELA-AU 12 117288181 117288181 single base substitution G A intron_variant MELA-AU 12 117288481 117288481 single base substitution G A 3_prime_UTR_variant MELA-AU 12 117288481 117288481 single base substitution G A intron_variant MELA-AU 12 117288560 117288561 multiple base substitution (>=2bp and <=200bp) GT AG 3_prime_UTR_variant MELA-AU 12 117288560 117288561 multiple base substitution (>=2bp and <=200bp) GT AG intron_variant MELA-AU 12 117288942 117288942 single base substitution C G 3_prime_UTR_variant MELA-AU 12 117288942 117288942 single base substitution C G intron_variant MELA-AU 12 117289051 117289051 single base substitution G A 3_prime_UTR_variant MELA-AU 12 117289051 117289051 single base substitution G A intron_variant MELA-AU 12 117289765 117289765 single base substitution G A 3_prime_UTR_variant MELA-AU 12 117289765 117289765 single base substitution G A downstream_gene_variant MELA-AU 12 117289765 117289765 single base substitution G A intron_variant MELA-AU 12 117289877 117289877 single base substitution T C 3_prime_UTR_variant MELA-AU 12 117289877 117289877 single base substitution T C downstream_gene_variant MELA-AU 12 117289877 117289877 single base substitution T C intron_variant MELA-AU 12 117289965 117289965 single base substitution C T 3_prime_UTR_variant MELA-AU 12 117289965 117289965 single base substitution C T downstream_gene_variant MELA-AU 12 117289965 117289965 single base substitution C T intron_variant MELA-AU 12 117290329 117290329 single base substitution G A 3_prime_UTR_variant MELA-AU 12 117290329 117290329 single base substitution G A downstream_gene_variant MELA-AU 12 117290329 117290329 single base substitution G A exon_variant MELA-AU 12 117290329 117290329 single base substitution G A intron_variant MELA-AU 12 117290367 117290367 single base substitution C T 3_prime_UTR_variant MELA-AU 12 117290367 117290367 single base substitution C T downstream_gene_variant MELA-AU 12 117290367 117290367 single base substitution C T exon_variant MELA-AU 12 117290367 117290367 single base substitution C T intron_variant MELA-AU 12 117290441 117290441 single base substitution C T 3_prime_UTR_variant MELA-AU 12 117290441 117290441 single base substitution C T downstream_gene_variant MELA-AU 12 117290441 117290441 single base substitution C T exon_variant MELA-AU 12 117290441 117290441 single base substitution C T intron_variant MELA-AU 12 117290862 117290862 single base substitution G A 3_prime_UTR_variant MELA-AU 12 117290862 117290862 single base substitution G A downstream_gene_variant MELA-AU 12 117290887 117290887 single base substitution C T 3_prime_UTR_variant MELA-AU 12 117290887 117290887 single base substitution C T downstream_gene_variant MELA-AU 12 117290966 117290967 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 12 117290966 117290967 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 12 117291460 117291460 single base substitution C T downstream_gene_variant MELA-AU 12 117291690 117291690 single base substitution C T downstream_gene_variant MELA-AU 12 117291758 117291758 single base substitution G A downstream_gene_variant MELA-AU 12 117292109 117292109 single base substitution A C downstream_gene_variant MELA-AU 12 117292305 117292305 single base substitution C T downstream_gene_variant MELA-AU 12 117292389 117292389 single base substitution G A downstream_gene_variant MELA-AU 12 117292719 117292719 single base substitution C T downstream_gene_variant MELA-AU 12 117292744 117292744 single base substitution T C downstream_gene_variant MELA-AU 12 117293174 117293174 insertion of <=200bp - C downstream_gene_variant MELA-AU 12 117293689 117293689 single base substitution G A downstream_gene_variant MELA-AU 12 117293760 117293760 single base substitution G A downstream_gene_variant MELA-AU 12 117293966 117293966 single base substitution T C downstream_gene_variant MELA-AU 12 117294102 117294103 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 117294167 117294167 single base substitution G A downstream_gene_variant MELA-AU 12 117294171 117294171 single base substitution C T downstream_gene_variant MELA-AU 12 117294215 117294215 single base substitution G A downstream_gene_variant MELA-AU 12 117294558 117294558 single base substitution C T downstream_gene_variant MELA-AU 12 117294721 117294721 single base substitution G A downstream_gene_variant MELA-AU 12 117294996 117294996 single base substitution G A downstream_gene_variant MELA-AU 12 117295097 117295097 single base substitution G A downstream_gene_variant MELA-AU 12 117295111 117295111 single base substitution T G downstream_gene_variant MELA-AU 12 117295185 117295185 single base substitution C T downstream_gene_variant MELA-AU 12 117295613 117295613 single base substitution C T downstream_gene_variant MELA-AU 12 117295619 117295620 multiple base substitution (>=2bp and <=200bp) GA AG downstream_gene_variant MELA-AU 12 117295635 117295635 single base substitution G A downstream_gene_variant MELA-AU 12 117296234 117296235 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant ORCA-IN 12 117172062 117172062 single base substitution G A upstream_gene_variant ORCA-IN 12 117202187 117202187 single base substitution G C intron_variant ORCA-IN 12 117207764 117207764 single base substitution C T intron_variant ORCA-IN 12 117222118 117222118 single base substitution C G intron_variant ORCA-IN 12 117233859 117233859 single base substitution G A intron_variant ORCA-IN 12 117238294 117238294 single base substitution C T intron_variant ORCA-IN 12 117254443 117254443 single base substitution C G intron_variant ORCA-IN 12 117275531 117275531 single base substitution G C intron_variant ORCA-IN 12 117275603 117275603 single base substitution T G intron_variant ORCA-IN 12 117284702 117284702 single base substitution C A intron_variant ORCA-IN 12 117288664 117288664 single base substitution C A 3_prime_UTR_variant ORCA-IN 12 117288664 117288664 single base substitution C A intron_variant ORCA-IN 12 117291285 117291285 single base substitution G T 3_prime_UTR_variant ORCA-IN 12 117291285 117291285 single base substitution G T downstream_gene_variant OV-AU 12 117173912 117173912 single base substitution A T upstream_gene_variant OV-AU 12 117176784 117176784 single base substitution G A intron_variant OV-AU 12 117178958 117178958 single base substitution A G downstream_gene_variant OV-AU 12 117178958 117178958 single base substitution A G intron_variant OV-AU 12 117181247 117181247 single base substitution T C downstream_gene_variant OV-AU 12 117181247 117181247 single base substitution T C intron_variant OV-AU 12 117185025 117185025 single base substitution C G intron_variant OV-AU 12 117187694 117187694 single base substitution C T 3_prime_UTR_variant OV-AU 12 117187694 117187694 single base substitution C T synonymous_variant G44G 132C>T OV-AU 12 117190752 117190752 single base substitution A G intron_variant OV-AU 12 117195927 117195927 single base substitution T C intron_variant OV-AU 12 117196994 117196994 single base substitution G T intron_variant OV-AU 12 117202550 117202550 single base substitution A C intron_variant OV-AU 12 117203002 117203002 single base substitution C A intron_variant OV-AU 12 117205021 117205021 single base substitution G C intron_variant OV-AU 12 117206403 117206403 single base substitution T C intron_variant OV-AU 12 117207059 117207059 single base substitution G A intron_variant OV-AU 12 117207115 117207115 single base substitution A T intron_variant OV-AU 12 117208284 117208284 single base substitution G A intron_variant OV-AU 12 117212967 117212967 single base substitution A C intron_variant OV-AU 12 117216604 117216604 single base substitution G A intron_variant OV-AU 12 117218209 117218209 single base substitution A G intron_variant OV-AU 12 117219836 117219836 single base substitution A G intron_variant OV-AU 12 117220170 117220170 single base substitution A C intron_variant OV-AU 12 117220782 117220782 single base substitution C T intron_variant OV-AU 12 117222981 117222981 single base substitution A G intron_variant OV-AU 12 117225569 117225569 single base substitution G C intron_variant OV-AU 12 117229980 117229980 single base substitution G T intron_variant OV-AU 12 117236458 117236458 single base substitution C T intron_variant OV-AU 12 117238209 117238209 single base substitution G A intron_variant OV-AU 12 117250162 117250162 single base substitution G C intron_variant OV-AU 12 117254259 117254259 single base substitution C T intron_variant OV-AU 12 117268264 117268264 single base substitution T A intron_variant OV-AU 12 117277945 117277945 single base substitution C A intron_variant OV-AU 12 117278916 117278916 single base substitution G A intron_variant PACA-AU 12 117184366 117184366 single base substitution G A intron_variant PACA-AU 12 117186448 117186448 single base substitution G A intron_variant PACA-AU 12 117187775 117187775 single base substitution G A 3_prime_UTR_variant PACA-AU 12 117187775 117187775 single base substitution G A synonymous_variant S71S 213G>A PACA-AU 12 117189302 117189302 single base substitution G A intron_variant PACA-AU 12 117193176 117193176 single base substitution T A intron_variant PACA-AU 12 117198868 117198868 insertion of <=200bp - C intron_variant PACA-AU 12 117212593 117212593 single base substitution T G intron_variant PACA-AU 12 117213083 117213083 single base substitution A G intron_variant PACA-AU 12 117216230 117216230 single base substitution G A intron_variant PACA-AU 12 117220601 117220601 single base substitution G A intron_variant PACA-AU 12 117222431 117222431 single base substitution C T intron_variant PACA-AU 12 117222798 117222798 single base substitution C A intron_variant PACA-AU 12 117224851 117224851 single base substitution T C intron_variant PACA-AU 12 117225551 117225551 single base substitution A G intron_variant PACA-AU 12 117225882 117225882 single base substitution G A intron_variant PACA-AU 12 117228161 117228161 single base substitution A G intron_variant PACA-AU 12 117232269 117232269 single base substitution G T intron_variant PACA-AU 12 117237682 117237682 deletion of <=200bp A - intron_variant PACA-AU 12 117239605 117239605 single base substitution T G intron_variant PACA-AU 12 117241892 117241892 single base substitution C G intron_variant PACA-AU 12 117244227 117244227 single base substitution A G intron_variant PACA-AU 12 117246253 117246253 single base substitution G A intron_variant PACA-AU 12 117246417 117246417 single base substitution C A intron_variant PACA-AU 12 117247100 117247100 single base substitution G C intron_variant PACA-AU 12 117251990 117251990 single base substitution C T intron_variant PACA-AU 12 117253347 117253347 single base substitution C T intron_variant PACA-AU 12 117253417 117253417 single base substitution G T intron_variant PACA-AU 12 117253519 117253519 single base substitution G C intron_variant PACA-AU 12 117253922 117253922 single base substitution G C intron_variant PACA-AU 12 117254612 117254612 single base substitution T A intron_variant PACA-AU 12 117254674 117254674 single base substitution G A intron_variant PACA-AU 12 117254765 117254765 single base substitution G C intron_variant PACA-AU 12 117255405 117255405 single base substitution G C intron_variant PACA-AU 12 117255688 117255688 single base substitution G A intron_variant PACA-AU 12 117255698 117255698 single base substitution G C intron_variant PACA-AU 12 117259732 117259732 single base substitution C T intron_variant PACA-AU 12 117263124 117263124 single base substitution G T intron_variant PACA-AU 12 117264538 117264538 single base substitution A C intron_variant PACA-AU 12 117268571 117268571 single base substitution C T intron_variant PACA-AU 12 117271526 117271526 single base substitution G A intron_variant PACA-AU 12 117271526 117271526 single base substitution G A upstream_gene_variant PACA-AU 12 117273534 117273534 single base substitution C T intron_variant PACA-AU 12 117273534 117273534 single base substitution C T upstream_gene_variant PACA-AU 12 117274596 117274596 single base substitution A C intron_variant PACA-AU 12 117285227 117285227 single base substitution G T intron_variant PACA-AU 12 117285534 117285534 single base substitution G A intron_variant PACA-AU 12 117287125 117287125 single base substitution T C intron_variant PACA-AU 12 117287125 117287125 single base substitution T C missense_variant F403L 1207T>C PACA-AU 12 117288048 117288048 single base substitution C G 3_prime_UTR_variant PACA-AU 12 117288048 117288048 single base substitution C G intron_variant PACA-AU 12 117292141 117292141 single base substitution G A downstream_gene_variant PACA-AU 12 117292903 117292903 single base substitution G A downstream_gene_variant PACA-AU 12 117294074 117294074 single base substitution G A downstream_gene_variant PACA-AU 12 117294990 117294990 single base substitution C T downstream_gene_variant PACA-CA 12 117176424 117176424 single base substitution A C intron_variant PACA-CA 12 117178605 117178605 single base substitution C T exon_variant PACA-CA 12 117178605 117178605 single base substitution C T intron_variant PACA-CA 12 117185852 117185852 single base substitution G A intron_variant PACA-CA 12 117192435 117192435 single base substitution C G intron_variant PACA-CA 12 117192642 117192642 insertion of <=200bp - T intron_variant PACA-CA 12 117195603 117195603 single base substitution C T intron_variant PACA-CA 12 117199519 117199519 single base substitution G A intron_variant PACA-CA 12 117203247 117203247 single base substitution A T intron_variant PACA-CA 12 117206185 117206185 single base substitution C T intron_variant PACA-CA 12 117215184 117215184 single base substitution G T intron_variant PACA-CA 12 117215474 117215474 single base substitution C A intron_variant PACA-CA 12 117218619 117218619 single base substitution G A intron_variant PACA-CA 12 117220334 117220334 deletion of <=200bp A - intron_variant PACA-CA 12 117223092 117223092 deletion of <=200bp T - intron_variant PACA-CA 12 117225175 117225175 single base substitution G A intron_variant PACA-CA 12 117229181 117229181 single base substitution T A intron_variant PACA-CA 12 117231373 117231373 single base substitution G T intron_variant PACA-CA 12 117231851 117231851 single base substitution A G intron_variant PACA-CA 12 117233859 117233859 single base substitution G A intron_variant PACA-CA 12 117235889 117235889 single base substitution G A intron_variant PACA-CA 12 117244054 117244054 single base substitution A G intron_variant PACA-CA 12 117244116 117244116 single base substitution A G intron_variant PACA-CA 12 117245277 117245277 single base substitution G T intron_variant PACA-CA 12 117245755 117245755 single base substitution T C intron_variant PACA-CA 12 117245918 117245918 single base substitution G A intron_variant PACA-CA 12 117248174 117248174 single base substitution G T intron_variant PACA-CA 12 117249149 117249149 single base substitution C T intron_variant PACA-CA 12 117249484 117249484 single base substitution G A intron_variant PACA-CA 12 117251572 117251572 single base substitution C G intron_variant PACA-CA 12 117254017 117254017 single base substitution C T intron_variant PACA-CA 12 117261492 117261492 single base substitution A T intron_variant PACA-CA 12 117262927 117262927 single base substitution G A intron_variant PACA-CA 12 117264527 117264527 single base substitution C A intron_variant PACA-CA 12 117264659 117264659 single base substitution G A intron_variant PACA-CA 12 117265724 117265724 single base substitution G T intron_variant PACA-CA 12 117265805 117265805 single base substitution C A intron_variant PACA-CA 12 117268279 117268279 single base substitution C T intron_variant PACA-CA 12 117268889 117268889 single base substitution G A intron_variant PACA-CA 12 117268889 117268889 single base substitution G A upstream_gene_variant PACA-CA 12 117275820 117275820 insertion of <=200bp - T intron_variant PACA-CA 12 117275827 117275827 single base substitution T A intron_variant PACA-CA 12 117275828 117275828 single base substitution A T intron_variant PACA-CA 12 117281908 117281908 single base substitution G C intron_variant PACA-CA 12 117281926 117281926 deletion of <=200bp C - intron_variant PACA-CA 12 117282885 117282885 deletion of <=200bp A - intron_variant PACA-CA 12 117283081 117283081 single base substitution G T intron_variant PACA-CA 12 117283083 117283083 single base substitution G T intron_variant PACA-CA 12 117285690 117285690 single base substitution A G intron_variant PACA-CA 12 117286010 117286010 single base substitution C T intron_variant PACA-CA 12 117286400 117286400 single base substitution C T intron_variant PACA-CA 12 117287007 117287007 single base substitution C T intron_variant PACA-CA 12 117287037 117287037 single base substitution C T intron_variant PACA-CA 12 117290057 117290057 single base substitution C G 3_prime_UTR_variant PACA-CA 12 117290057 117290057 single base substitution C G downstream_gene_variant PACA-CA 12 117290057 117290057 single base substitution C G intron_variant PACA-CA 12 117290362 117290362 single base substitution C G 3_prime_UTR_variant PACA-CA 12 117290362 117290362 single base substitution C G downstream_gene_variant PACA-CA 12 117290362 117290362 single base substitution C G exon_variant PACA-CA 12 117290362 117290362 single base substitution C G intron_variant PACA-CA 12 117290414 117290414 single base substitution T C 3_prime_UTR_variant PACA-CA 12 117290414 117290414 single base substitution T C downstream_gene_variant PACA-CA 12 117290414 117290414 single base substitution T C exon_variant PACA-CA 12 117290414 117290414 single base substitution T C intron_variant PACA-CA 12 117291740 117291740 single base substitution A G downstream_gene_variant PACA-CA 12 117294177 117294177 single base substitution C T downstream_gene_variant PAEN-AU 12 117191001 117191001 single base substitution G T intron_variant PAEN-AU 12 117224112 117224112 single base substitution G A intron_variant PAEN-AU 12 117262408 117262408 single base substitution G C intron_variant PAEN-IT 12 117172844 117172844 single base substitution G C upstream_gene_variant PAEN-IT 12 117188124 117188124 single base substitution G A intron_variant PAEN-IT 12 117198318 117198318 single base substitution G C intron_variant PAEN-IT 12 117245693 117245693 single base substitution C G intron_variant PAEN-IT 12 117259663 117259663 single base substitution C T intron_variant PBCA-DE 12 117171241 117171241 deletion of <=200bp C - upstream_gene_variant PBCA-DE 12 117177733 117177733 single base substitution G A intron_variant PBCA-DE 12 117184618 117184618 single base substitution G C intron_variant PBCA-DE 12 117203333 117203333 single base substitution C A intron_variant PBCA-DE 12 117212600 117212601 deletion of <=200bp GA - intron_variant PBCA-DE 12 117212740 117212741 deletion of <=200bp AG - intron_variant PBCA-DE 12 117212740 117212743 deletion of <=200bp AGAG - intron_variant PBCA-DE 12 117228176 117228176 single base substitution C T intron_variant PBCA-DE 12 117259999 117259999 single base substitution G A intron_variant PBCA-DE 12 117268801 117268801 single base substitution C T intron_variant PBCA-DE 12 117271684 117271684 single base substitution G A 3_prime_UTR_variant PBCA-DE 12 117271684 117271684 single base substitution G A intron_variant PBCA-DE 12 117271684 117271684 single base substitution G A missense_variant D324N 970G>A PBCA-DE 12 117271684 117271684 single base substitution G A upstream_gene_variant PBCA-DE 12 117287174 117287174 single base substitution C T intron_variant PBCA-DE 12 117287174 117287174 single base substitution C T missense_variant P419L 1256C>T PBCA-DE 12 117287316 117287316 single base substitution G T 3_prime_UTR_variant PBCA-DE 12 117287316 117287316 single base substitution G T intron_variant PBCA-DE 12 117287824 117287824 deletion of <=200bp T - 3_prime_UTR_variant PBCA-DE 12 117287824 117287824 deletion of <=200bp T - intron_variant PBCA-DE 12 117290830 117290830 single base substitution G A 3_prime_UTR_variant PBCA-DE 12 117290830 117290830 single base substitution G A downstream_gene_variant PBCA-DE 12 117293017 117293017 single base substitution C T downstream_gene_variant PRAD-CA 12 117186259 117186259 single base substitution C T intron_variant PRAD-CA 12 117209381 117209381 single base substitution A T intron_variant PRAD-CA 12 117245913 117245913 single base substitution C T intron_variant PRAD-CA 12 117277721 117277721 single base substitution G C intron_variant PRAD-CA 12 117283805 117283805 single base substitution C A intron_variant PRAD-UK 12 117191529 117191529 single base substitution G A intron_variant PRAD-UK 12 117193148 117193148 deletion of <=200bp T - intron_variant PRAD-UK 12 117211324 117211324 single base substitution C G intron_variant PRAD-UK 12 117214866 117214866 single base substitution G T intron_variant PRAD-UK 12 117234655 117234655 single base substitution C T intron_variant PRAD-UK 12 117259177 117259177 single base substitution G T intron_variant PRAD-UK 12 117262892 117262892 single base substitution T C intron_variant PRAD-UK 12 117273149 117273149 single base substitution G A intron_variant PRAD-UK 12 117273149 117273149 single base substitution G A upstream_gene_variant PRAD-UK 12 117274328 117274328 single base substitution G T intron_variant PRAD-UK 12 117277206 117277230 deletion of <=200bp TGGATGGATGGGATGGGTGGGTGGG - intron_variant PRAD-UK 12 117286784 117286784 single base substitution C T intron_variant PRAD-UK 12 117289266 117289266 single base substitution G A 3_prime_UTR_variant PRAD-UK 12 117289266 117289266 single base substitution G A intron_variant PRAD-UK 12 117289875 117289875 single base substitution T G 3_prime_UTR_variant PRAD-UK 12 117289875 117289875 single base substitution T G downstream_gene_variant PRAD-UK 12 117289875 117289875 single base substitution T G intron_variant READ-US 12 117187907 117187907 single base substitution T C 3_prime_UTR_variant READ-US 12 117187907 117187907 single base substitution T C synonymous_variant H115H 345T>C READ-US 12 117187919 117187919 single base substitution C T 3_prime_UTR_variant READ-US 12 117187919 117187919 single base substitution C T synonymous_variant G119G 357C>T RECA-EU 12 117189610 117189610 single base substitution C A intron_variant RECA-EU 12 117192371 117192371 single base substitution G A intron_variant RECA-EU 12 117207838 117207838 single base substitution C A intron_variant RECA-EU 12 117211228 117211228 single base substitution A T intron_variant RECA-EU 12 117213559 117213559 single base substitution A T intron_variant RECA-EU 12 117225182 117225182 single base substitution G C intron_variant RECA-EU 12 117225602 117225602 single base substitution G T intron_variant RECA-EU 12 117225680 117225680 single base substitution C G intron_variant RECA-EU 12 117230220 117230220 single base substitution A T intron_variant RECA-EU 12 117236580 117236580 single base substitution C T intron_variant RECA-EU 12 117239899 117239899 single base substitution T A intron_variant RECA-EU 12 117288432 117288432 single base substitution T C 3_prime_UTR_variant RECA-EU 12 117288432 117288432 single base substitution T C intron_variant RECA-EU 12 117288446 117288446 single base substitution G T 3_prime_UTR_variant RECA-EU 12 117288446 117288446 single base substitution G T intron_variant RECA-EU 12 117292880 117292880 single base substitution A G downstream_gene_variant RECA-EU 12 117294470 117294470 single base substitution G T downstream_gene_variant RECA-EU 12 117294471 117294471 single base substitution G T downstream_gene_variant SKCA-BR 12 117171229 117171229 single base substitution T C upstream_gene_variant SKCA-BR 12 117171234 117171234 single base substitution A G upstream_gene_variant SKCA-BR 12 117171240 117171241 deletion of <=200bp GC - upstream_gene_variant SKCA-BR 12 117171278 117171278 single base substitution T C upstream_gene_variant SKCA-BR 12 117175238 117175238 single base substitution G A upstream_gene_variant SKCA-BR 12 117175951 117175951 single base substitution G A upstream_gene_variant SKCA-BR 12 117181041 117181041 insertion of <=200bp - AAAC downstream_gene_variant SKCA-BR 12 117181041 117181041 insertion of <=200bp - AAAC intron_variant SKCA-BR 12 117181048 117181050 deletion of <=200bp AAC - downstream_gene_variant SKCA-BR 12 117181048 117181050 deletion of <=200bp AAC - intron_variant SKCA-BR 12 117181504 117181504 single base substitution C T downstream_gene_variant SKCA-BR 12 117181504 117181504 single base substitution C T intron_variant SKCA-BR 12 117182030 117182030 insertion of <=200bp - CAA downstream_gene_variant SKCA-BR 12 117182030 117182030 insertion of <=200bp - CAA intron_variant SKCA-BR 12 117182978 117182978 insertion of <=200bp - ATT downstream_gene_variant SKCA-BR 12 117182978 117182978 insertion of <=200bp - ATT intron_variant SKCA-BR 12 117183357 117183357 single base substitution T C downstream_gene_variant SKCA-BR 12 117183357 117183357 single base substitution T C intron_variant SKCA-BR 12 117183448 117183448 single base substitution G A downstream_gene_variant SKCA-BR 12 117183448 117183448 single base substitution G A intron_variant SKCA-BR 12 117183991 117183991 single base substitution G A intron_variant SKCA-BR 12 117185118 117185118 single base substitution C T intron_variant SKCA-BR 12 117187870 117187870 single base substitution A G 3_prime_UTR_variant SKCA-BR 12 117187870 117187870 single base substitution A G missense_variant E103G 308A>G SKCA-BR 12 117187900 117187900 single base substitution A C 3_prime_UTR_variant SKCA-BR 12 117187900 117187900 single base substitution A C missense_variant H113P 338A>C SKCA-BR 12 117188631 117188634 deletion of <=200bp TATA - intron_variant SKCA-BR 12 117188646 117188655 deletion of <=200bp ATATATATAT - intron_variant SKCA-BR 12 117188647 117188647 single base substitution T C intron_variant SKCA-BR 12 117188656 117188656 single base substitution A T intron_variant SKCA-BR 12 117188667 117188667 single base substitution T C intron_variant SKCA-BR 12 117188705 117188705 insertion of <=200bp - AT intron_variant SKCA-BR 12 117188712 117188713 deletion of <=200bp TA - intron_variant SKCA-BR 12 117188713 117188716 deletion of <=200bp ATTT - intron_variant SKCA-BR 12 117193528 117193528 single base substitution C T intron_variant SKCA-BR 12 117194088 117194088 single base substitution C T intron_variant SKCA-BR 12 117194089 117194089 single base substitution C T intron_variant SKCA-BR 12 117194269 117194269 single base substitution T G intron_variant SKCA-BR 12 117194270 117194270 single base substitution T G intron_variant SKCA-BR 12 117204337 117204337 single base substitution T A intron_variant SKCA-BR 12 117208821 117208821 single base substitution C T intron_variant SKCA-BR 12 117208902 117208902 single base substitution C T intron_variant SKCA-BR 12 117209242 117209242 single base substitution G A intron_variant SKCA-BR 12 117209265 117209274 deletion of <=200bp TAAAAAAAAA - intron_variant SKCA-BR 12 117209307 117209307 insertion of <=200bp - TATATAT intron_variant SKCA-BR 12 117210639 117210639 single base substitution C G intron_variant SKCA-BR 12 117211836 117211836 single base substitution G A intron_variant SKCA-BR 12 117211947 117211947 single base substitution A G intron_variant SKCA-BR 12 117213558 117213558 single base substitution C T intron_variant SKCA-BR 12 117214556 117214556 single base substitution G A intron_variant SKCA-BR 12 117216443 117216443 single base substitution T G intron_variant SKCA-BR 12 117216533 117216533 single base substitution G C intron_variant SKCA-BR 12 117218489 117218489 single base substitution A G intron_variant SKCA-BR 12 117218490 117218491 deletion of <=200bp GA - intron_variant SKCA-BR 12 117220672 117220672 single base substitution C T intron_variant SKCA-BR 12 117223092 117223092 single base substitution T G intron_variant SKCA-BR 12 117223192 117223192 single base substitution G A intron_variant SKCA-BR 12 117226336 117226336 single base substitution C T intron_variant SKCA-BR 12 117229611 117229611 single base substitution C T intron_variant SKCA-BR 12 117234655 117234655 single base substitution C T intron_variant SKCA-BR 12 117237583 117237583 single base substitution C T intron_variant SKCA-BR 12 117238185 117238185 single base substitution C T intron_variant SKCA-BR 12 117239066 117239066 single base substitution G A intron_variant SKCA-BR 12 117239648 117239648 single base substitution A G intron_variant SKCA-BR 12 117239690 117239690 single base substitution G A intron_variant SKCA-BR 12 117241607 117241607 single base substitution T C intron_variant SKCA-BR 12 117242870 117242870 single base substitution C T intron_variant SKCA-BR 12 117244198 117244198 insertion of <=200bp - TAGATAG intron_variant SKCA-BR 12 117246237 117246237 single base substitution C T intron_variant SKCA-BR 12 117246248 117246248 single base substitution C T intron_variant SKCA-BR 12 117246992 117247000 deletion of <=200bp GTTCATTCA - intron_variant SKCA-BR 12 117248449 117248449 single base substitution G A intron_variant SKCA-BR 12 117249560 117249560 single base substitution C T intron_variant SKCA-BR 12 117250339 117250339 insertion of <=200bp - CT intron_variant SKCA-BR 12 117251897 117251897 single base substitution C T intron_variant SKCA-BR 12 117258107 117258107 single base substitution G A intron_variant SKCA-BR 12 117259958 117259958 single base substitution G A intron_variant SKCA-BR 12 117262433 117262433 single base substitution A G intron_variant SKCA-BR 12 117264057 117264057 single base substitution C T intron_variant SKCA-BR 12 117267490 117267490 single base substitution C T intron_variant SKCA-BR 12 117267518 117267518 single base substitution G A intron_variant SKCA-BR 12 117269215 117269215 single base substitution G A intron_variant SKCA-BR 12 117269215 117269215 single base substitution G A upstream_gene_variant SKCA-BR 12 117269949 117269949 insertion of <=200bp - ATAT intron_variant SKCA-BR 12 117269949 117269949 insertion of <=200bp - ATAT upstream_gene_variant SKCA-BR 12 117269952 117269952 single base substitution A T intron_variant SKCA-BR 12 117269952 117269952 single base substitution A T upstream_gene_variant SKCA-BR 12 117271865 117271865 single base substitution A G intron_variant SKCA-BR 12 117271865 117271865 single base substitution A G upstream_gene_variant SKCA-BR 12 117275188 117275188 single base substitution C T intron_variant SKCA-BR 12 117276983 117276983 single base substitution T C intron_variant SKCA-BR 12 117278420 117278420 single base substitution C T intron_variant SKCA-BR 12 117279645 117279645 single base substitution T A intron_variant SKCA-BR 12 117279649 117279651 deletion of <=200bp TAA - intron_variant SKCA-BR 12 117281630 117281630 single base substitution C T intron_variant SKCA-BR 12 117282200 117282200 single base substitution C T intron_variant SKCA-BR 12 117283065 117283065 single base substitution T A intron_variant SKCA-BR 12 117287652 117287652 insertion of <=200bp - TCC 3_prime_UTR_variant SKCA-BR 12 117287652 117287652 insertion of <=200bp - TCC intron_variant SKCA-BR 12 117288418 117288418 insertion of <=200bp - TTATTTTC 3_prime_UTR_variant SKCA-BR 12 117288418 117288418 insertion of <=200bp - TTATTTTC intron_variant SKCA-BR 12 117288420 117288420 single base substitution C T 3_prime_UTR_variant SKCA-BR 12 117288420 117288420 single base substitution C T intron_variant SKCA-BR 12 117288426 117288426 insertion of <=200bp - TTTTTTC 3_prime_UTR_variant SKCA-BR 12 117288426 117288426 insertion of <=200bp - TTTTTTC intron_variant SKCA-BR 12 117288432 117288432 single base substitution T C 3_prime_UTR_variant SKCA-BR 12 117288432 117288432 single base substitution T C intron_variant SKCA-BR 12 117288691 117288691 single base substitution G T 3_prime_UTR_variant SKCA-BR 12 117288691 117288691 single base substitution G T intron_variant SKCA-BR 12 117288692 117288692 single base substitution C T 3_prime_UTR_variant SKCA-BR 12 117288692 117288692 single base substitution C T intron_variant SKCA-BR 12 117290265 117290265 single base substitution C G 3_prime_UTR_variant SKCA-BR 12 117290265 117290265 single base substitution C G downstream_gene_variant SKCA-BR 12 117290265 117290265 single base substitution C G exon_variant SKCA-BR 12 117290265 117290265 single base substitution C G intron_variant SKCA-BR 12 117291667 117291667 single base substitution G A downstream_gene_variant SKCA-BR 12 117292864 117292864 insertion of <=200bp - TAA downstream_gene_variant SKCA-BR 12 117292882 117292882 single base substitution G A downstream_gene_variant SKCA-BR 12 117292896 117292896 single base substitution G A downstream_gene_variant SKCA-BR 12 117294166 117294166 single base substitution G A downstream_gene_variant SKCA-BR 12 117294167 117294167 single base substitution G A downstream_gene_variant SKCA-BR 12 117294215 117294215 single base substitution G A downstream_gene_variant SKCA-BR 12 117296232 117296232 single base substitution C T downstream_gene_variant SKCM-US 12 117178899 117178899 single base substitution G A downstream_gene_variant SKCM-US 12 117178899 117178899 single base substitution G A missense_variant R28K 83G>A SKCM-US 12 117178899 117178899 single base substitution G A splice_region_variant SKCM-US 12 117187910 117187910 single base substitution C T 3_prime_UTR_variant SKCM-US 12 117187910 117187910 single base substitution C T synonymous_variant F116F 348C>T SKCM-US 12 117187937 117187937 single base substitution C T 3_prime_UTR_variant SKCM-US 12 117187937 117187937 single base substitution C T synonymous_variant S125S 375C>T SKCM-US 12 117191865 117191865 single base substitution G A splice_region_variant SKCM-US 12 117217001 117217001 single base substitution C T intron_variant SKCM-US 12 117217001 117217001 single base substitution C T missense_variant L244F 730C>T SKCM-US 12 117217001 117217001 single base substitution C T splice_region_variant SKCM-US 12 117217066 117217066 single base substitution C T 3_prime_UTR_variant SKCM-US 12 117217066 117217066 single base substitution C T intron_variant SKCM-US 12 117217066 117217066 single base substitution C T synonymous_variant I265I 795C>T SKCM-US 12 117217093 117217093 single base substitution C T 3_prime_UTR_variant SKCM-US 12 117217093 117217093 single base substitution C T intron_variant SKCM-US 12 117217093 117217093 single base substitution C T synonymous_variant T274T 822C>T SKCM-US 12 117217114 117217114 single base substitution C T 3_prime_UTR_variant SKCM-US 12 117217114 117217114 single base substitution C T intron_variant SKCM-US 12 117217114 117217114 single base substitution C T synonymous_variant I281I 843C>T SKCM-US 12 117271695 117271695 single base substitution C T 3_prime_UTR_variant SKCM-US 12 117271695 117271695 single base substitution C T intron_variant SKCM-US 12 117271695 117271695 single base substitution C T synonymous_variant S327S 981C>T SKCM-US 12 117271695 117271695 single base substitution C T upstream_gene_variant SKCM-US 12 117271707 117271707 single base substitution C T 3_prime_UTR_variant SKCM-US 12 117271707 117271707 single base substitution C T intron_variant SKCM-US 12 117271707 117271707 single base substitution C T synonymous_variant F331F 993C>T SKCM-US 12 117271707 117271707 single base substitution C T upstream_gene_variant SKCM-US 12 117271725 117271725 single base substitution C T 3_prime_UTR_variant SKCM-US 12 117271725 117271725 single base substitution C T intron_variant SKCM-US 12 117271725 117271725 single base substitution C T synonymous_variant I337I 1011C>T SKCM-US 12 117271725 117271725 single base substitution C T upstream_gene_variant SKCM-US 12 117273830 117273830 single base substitution G A intron_variant SKCM-US 12 117273830 117273830 single base substitution G A splice_region_variant STAD-US 12 117187926 117187926 single base substitution C T 3_prime_UTR_variant STAD-US 12 117187926 117187926 single base substitution C T missense_variant R122C 364C>T STAD-US 12 117204721 117204721 single base substitution T C intron_variant STAD-US 12 117204721 117204721 single base substitution T C splice_donor_variant STAD-US 12 117217143 117217143 single base substitution T C 3_prime_UTR_variant STAD-US 12 117217143 117217143 single base substitution T C intron_variant STAD-US 12 117217143 117217143 single base substitution T C missense_variant V291A 872T>C THCA-SA 12 117187907 117187907 single base substitution T C 3_prime_UTR_variant THCA-SA 12 117187907 117187907 single base substitution T C synonymous_variant H115H 345T>C THCA-SA 12 117287190 117287190 single base substitution C T intron_variant THCA-SA 12 117287190 117287190 single base substitution C T synonymous_variant V424V 1272C>T THCA-SA 12 117291139 117291139 single base substitution G A 3_prime_UTR_variant THCA-SA 12 117291139 117291139 single base substitution G A downstream_gene_variant UCEC-US 12 117187732 117187732 single base substitution C A 3_prime_UTR_variant UCEC-US 12 117187732 117187732 single base substitution C A missense_variant P57Q 170C>A UCEC-US 12 117217027 117217027 single base substitution G T 3_prime_UTR_variant UCEC-US 12 117217027 117217027 single base substitution G T intron_variant UCEC-US 12 117217027 117217027 single base substitution G T missense_variant E252D 756G>T UCEC-US 12 117271736 117271736 single base substitution G T 3_prime_UTR_variant UCEC-US 12 117271736 117271736 single base substitution G T intron_variant UCEC-US 12 117271736 117271736 single base substitution G T missense_variant S341I 1022G>T UCEC-US 12 117271736 117271736 single base substitution G T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand T2197 COSM4722224 c.1311G>A p.T437T Substitution - coding silent 12:116849424-116849424 + CHC1731T COSM4792143 c.406G>T p.G136W Substitution - Missense 12:116766862-116766862 + LIM2405 COSM4613299 c.295delG p.G100fs*57 Deletion - Frameshift 12:116750052-116750052 + 2492703 COSM5600378 c.837A>C p.G279G Substitution - coding silent 12:116836189-116836189 + 587394 COSM1224032 c.1246C>T p.R416C Substitution - Missense 12:116849359-116849359 + PTC_341 COSM430437 c.345T>C p.H115H Substitution - coding silent 12:116750102-116750102 + STC252 COSM5051369 c.608G>A p.R203Q Substitution - Missense 12:116754041-116754041 + SC_9092 COSM5556084 c.249C>T p.G83G Substitution - coding silent 12:116750006-116750006 + TCGA-AA-A02F-01 COSM300668 c.741C>T p.I247I Substitution - coding silent 12:116833920-116833920 + TCGA-GN-A26C-01 COSM3456637 c.843C>T p.I281I Substitution - coding silent 12:116779309-116779309 + 8057714 COSM3384065 c.1207T>C p.F403L Substitution - Missense 12:116849320-116849320 + TCGA-AB-2830-03 COSM430437 c.345T>C p.H115H Substitution - coding silent 12:116750102-116750102 + PTC-1C COSM430437 c.345T>C p.H115H Substitution - coding silent 12:116750102-116750102 + BCM337T COSM4799102 c.304G>A p.G102S Substitution - Missense 12:116750061-116750061 + 587376 COSM935575 c.756G>T p.E252D Substitution - Missense 12:116779222-116779222 + CSCC-16-T COSM4540816 c.19G>A p.E7K Substitution - Missense 12:116750046-116750046 + TCGA-FD-A3B4-01 COSM1298962 c.404C>T p.A135V Substitution - Missense 12:116766860-116766860 + ICGC_MB77 COSM3764373 c.970G>A p.D324N Substitution - Missense 12:116833879-116833879 + 587284 COSM1224031 c.357+2T>C p.? Unknown 12:116754062-116754062 + CSCC-27-T COSM4462844 c.1263C>T p.C421C Substitution - coding silent 12:116849376-116849376 + 2492702 COSM5600378 c.837A>C p.G279G Substitution - coding silent 12:116836189-116836189 + TCGA-EE-A3J8-06 COSM3456635 c.822C>T p.T274T Substitution - coding silent 12:116779288-116779288 + XHDG04 COSM4768271 c.1026C>G p.L342L Substitution - coding silent 12:116833935-116833935 + TCGA-BF-A1Q0-01 COSM300668 c.741C>T p.I247I Substitution - coding silent 12:116833920-116833920 + TCGA-B7-5816-01 COSM4039108 c.458+2T>C p.? Unknown 12:116766916-116766916 + SNU-C4 COSM4652142 c.902T>C p.I301T Substitution - Missense 12:116833811-116833811 + HCC62T COSM1605615 c.645G>T p.L215L Substitution - coding silent 12:116766831-116766831 + CSCC-44-T COSM4540731 c.288G>A p.E96E Substitution - coding silent 12:116750045-116750045 + TCGA-AF-2693-01 COSM430438 c.75T>C p.H25H Substitution - coding silent 12:116750102-116750102 + XHDG04 COSM4768272 c.756C>G p.L252L Substitution - coding silent 12:116833935-116833935 + TCGA-HU-A4H3-01 COSM1732916 c.364C>T p.R122C Substitution - Missense 12:116750121-116750121 + Pat_05_A COSM5840254 c.538C>T p.Q180* Substitution - Nonsense 12:116750295-116750295 + BCB111T COSM4949827 c.448G>C p.A150P Substitution - Missense 12:116750205-116750205 + TCGA-FW-A3R5-06 COSM3870831 c.627G>A p.K209K Substitution - coding silent 12:116754060-116754060 + PD8830a COSM5794387 c.644G>A p.S215N Substitution - Missense 12:116833823-116833823 + SM-4AX85 COSM4409362 c.898G>A p.E300K Substitution - Missense 12:116836250-116836250 + ESCC-210T COSM3935757 c.747C>G p.L249L Substitution - coding silent 12:116833926-116833926 + Pat_05_A COSM5840255 c.268C>T p.Q90* Substitution - Nonsense 12:116750295-116750295 + 587376 COSM935576 c.486G>T p.E162D Substitution - Missense 12:116779222-116779222 + HCC62 COSM1605616 c.375G>T p.L125L Substitution - coding silent 12:116766831-116766831 + LAU108 COSM233273 c.905G>A p.R302Q Substitution - Missense 12:116836257-116836257 + STC246 COSM5051374 c.781C>T p.R261C Substitution - Missense 12:116835978-116835978 + TCGA-F5-6811-01 COSM5080297 c.465_471delGCTGAAG p.K157fs*1 Deletion - Frameshift 12:116750222-116750228 + TCGA-24-1552-01 COSM72466 c.742G>C p.V248L Substitution - Missense 12:116833921-116833921 + TCGA-D3-A2JH-06 COSM3456639 c.993C>T p.F331F Substitution - coding silent 12:116833902-116833902 + TCGA-D3-A5GU-06 COSM3456641 c.1098G>A p.Q366Q Substitution - coding silent 12:116836025-116836025 + TCGA-B7-5816-01 COSM4039107 c.728+2T>C p.? Unknown 12:116766916-116766916 + TCGA-AP-A051-01 COSM935579 c.1022G>T p.S341I Substitution - Missense 12:116833931-116833931 + YULAPE COSM1706339 c.513G>A p.W171* Substitution - Nonsense 12:116779249-116779249 + TCGA-AB-2830-03 COSM430438 c.75T>C p.H25H Substitution - coding silent 12:116750102-116750102 + 2492701 COSM5600377 c.1107A>C p.G369G Substitution - coding silent 12:116836189-116836189 + YUKAT COSM5374290 c.179C>T p.A60V Substitution - Missense 12:116750206-116750206 + Au2 COSM5600377 c.1107A>C p.G369G Substitution - coding silent 12:116836189-116836189 + TCGA-CK-4950-01 COSM3752944 c.1272C>T p.V424V Substitution - coding silent 12:116849385-116849385 + LUAD-RT-S01808 COSM382668 c.430G>T p.E144* Substitution - Nonsense 12:116750187-116750187 + Au2 COSM5600378 c.837A>C p.G279G Substitution - coding silent 12:116836189-116836189 + YUKAT COSM5374289 c.449C>T p.A150V Substitution - Missense 12:116750206-116750206 + RK261_C01 COSM4778648 c.1280A>G p.D427G Substitution - Missense 12:116849393-116849393 + PDA_033 COSM4999737 c.853C>A p.P285T Substitution - Missense 12:116779319-116779319 + ACINAR28 COSM1732916 c.364C>T p.R122C Substitution - Missense 12:116750121-116750121 + TCGA-D3-A2JH-06 COSM3456640 c.723C>T p.F241F Substitution - coding silent 12:116833902-116833902 + LUAD-RT-S01808 COSM382669 c.160G>T p.E54* Substitution - Nonsense 12:116750187-116750187 + BCB111T COSM4949827 c.448G>C p.A150P Substitution - Missense 12:116750205-116750205 + CRC-23T COSM5482529 c.612+1G>A p.? Unknown 12:116779349-116779349 + TCGA-NH-A5IV-01 COSM5182379 c.1288C>T p.R430C Substitution - Missense 12:116849401-116849401 + CX-1 COSM2173367 c.96G>T p.Q32H Substitution - Missense 12:116749853-116749853 + ESCC_BICR_063T COSM5436916 c.702C>T p.D234D Substitution - coding silent 12:116833881-116833881 + CSCC-44-T COSM4540732 c.18G>A p.E6E Substitution - coding silent 12:116750045-116750045 + PDA_033 COSM4999738 c.583C>A p.P195T Substitution - Missense 12:116779319-116779319 + TCGA-AD-A5EJ-01 COSM5132837 c.53G>T p.S18I Substitution - Missense 12:116741064-116741064 + 2492701 COSM5600378 c.837A>C p.G279G Substitution - coding silent 12:116836189-116836189 + TCGA-HF-7132-01 COSM4039109 c.872T>C p.V291A Substitution - Missense 12:116779338-116779338 + CHC1731T COSM4792142 c.676G>T p.G226W Substitution - Missense 12:116766862-116766862 + PTC-1C COSM430438 c.75T>C p.H25H Substitution - coding silent 12:116750102-116750102 + TCGA-12-3652-01 COSM3398397 c.765C>T p.D255D Substitution - coding silent 12:116779231-116779231 + CRC-19T COSM5480991 c.874A>G p.K292E Substitution - Missense 12:116779340-116779340 + TCGA-66-2787-01 COSM691905 c.1330T>C p.Y444H Substitution - Missense 12:116849443-116849443 + TCGA-AF-2687-01 COSM3749198 c.357C>T p.G119G Substitution - coding silent 12:116750114-116750114 + STC246 COSM5051373 c.1051C>T p.R351C Substitution - Missense 12:116835978-116835978 + STC243 COSM5051372 c.462C>T p.L154L Substitution - coding silent 12:116779198-116779198 + TCGA-BF-A1Q0-01 COSM300669 c.1011C>T p.I337I Substitution - coding silent 12:116833920-116833920 + TCGA-FW-A3R5-06 COSM3870833 c.981C>T p.S327S Substitution - coding silent 12:116833890-116833890 + TCGA-FD-A3B4-01 COSM1298961 c.674C>T p.A225V Substitution - Missense 12:116766860-116766860 + Pat_05_B COSM5840255 c.268C>T p.Q90* Substitution - Nonsense 12:116750295-116750295 + UM-SCC-2 COSM2173380 c.241C>A p.L81M Substitution - Missense 12:116750268-116750268 + TCGA-D5-6926-01 COSM430437 c.345T>C p.H115H Substitution - coding silent 12:116750102-116750102 + LIM2405 COSM4613300 c.25delG p.G10fs*57 Deletion - Frameshift 12:116750052-116750052 + TCGA-CK-6746-01 COSM2173407 c.1152C>T p.C384C Substitution - coding silent 12:116836234-116836234 + TCGA-G4-6298-01 COSM3749198 c.357C>T p.G119G Substitution - coding silent 12:116750114-116750114 + TCGA-AD-6888-01 COSM1359093 c.686A>C p.K229T Substitution - Missense 12:116833865-116833865 + SNU-C4 COSM4652143 c.632T>C p.I211T Substitution - Missense 12:116833811-116833811 + BCB111T COSM4949828 c.178G>C p.A60P Substitution - Missense 12:116750205-116750205 + TCGA-12-3652-01 COSM3398398 c.495C>T p.D165D Substitution - coding silent 12:116779231-116779231 + TCGA-AF-2693-01 COSM430437 c.345T>C p.H115H Substitution - coding silent 12:116750102-116750102 + sysucc-1317T COSM5448388 c.305C>T p.A102V Substitution - Missense 12:116754008-116754008 + TCGA-BT-A20W-01 COSM416025 c.902T>C p.F301S Substitution - Missense 12:116836254-116836254 + STC243 COSM5051371 c.732C>T p.L244L Substitution - coding silent 12:116779198-116779198 + TCGA-BG-A0VX-01 COSM935577 c.796G>A p.A266T Substitution - Missense 12:116779262-116779262 + RK119_C01 COSM3739451 c.405G>A p.A135A Substitution - coding silent 12:116766861-116766861 + STC252 COSM5051370 c.338G>A p.R113Q Substitution - Missense 12:116754041-116754041 + CHC1731T COSM4792143 c.406G>T p.G136W Substitution - Missense 12:116766862-116766862 + HT115 COSM935579 c.1022G>T p.S341I Substitution - Missense 12:116833931-116833931 + I2L-P24Tb-Tumor-Organoid COSM5361737 c.1264C>T p.R422C Substitution - Missense 12:116849377-116849377 + YULAPE COSM1706338 c.783G>A p.W261* Substitution - Nonsense 12:116779249-116779249 + CRC-23T COSM5482528 c.882+1G>A p.? Unknown 12:116779349-116779349 + TCGA-AA-3663-01 COSM430437 c.345T>C p.H115H Substitution - coding silent 12:116750102-116750102 + TCGA-D1-A15X-01 COSM935574 c.170C>A p.P57Q Substitution - Missense 12:116749927-116749927 + CSCC-16-T COSM4540815 c.289G>A p.E97K Substitution - Missense 12:116750046-116750046 + TCGA-EE-A2MS-06 COSM3456632 c.460C>T p.L154F Substitution - Missense 12:116779196-116779196 + TP_2034 COSM5549871 c.1315G>A p.A439T Substitution - Missense 12:116849428-116849428 + TCGA-D3-A5GU-06 COSM3456642 c.828G>A p.Q276Q Substitution - coding silent 12:116836025-116836025 + PTC_341 COSM430438 c.75T>C p.H25H Substitution - coding silent 12:116750102-116750102 + TCGA-AZ-6605-01 COSM430438 c.75T>C p.H25H Substitution - coding silent 12:116750102-116750102 + 2492700 COSM5600377 c.1107A>C p.G369G Substitution - coding silent 12:116836189-116836189 + TCGA-AZ-6605-01 COSM430437 c.345T>C p.H115H Substitution - coding silent 12:116750102-116750102 + HCC62T COSM1605618 c.376G>T p.V126F Substitution - Missense 12:116766832-116766832 + SM-4AX85 COSM4409361 c.1168G>A p.E390K Substitution - Missense 12:116836250-116836250 + TCGA-EE-A2MS-06 COSM3456631 c.730C>T p.L244F Substitution - Missense 12:116779196-116779196 + BCB111T COSM4949828 c.178G>C p.A60P Substitution - Missense 12:116750205-116750205 + ESCC_BICR_063T COSM5436915 c.972C>T p.D324D Substitution - coding silent 12:116833881-116833881 + TCGA-HF-7132-01 COSM4039110 c.602T>C p.V201A Substitution - Missense 12:116779338-116779338 + YUAKER COSM1706341 c.769G>A p.D257N Substitution - Missense 12:116835966-116835966 + sysucc-1317T COSM5448387 c.575C>T p.A192V Substitution - Missense 12:116754008-116754008 + HT115 COSM935580 c.752G>T p.S251I Substitution - Missense 12:116833931-116833931 + TCGA-A2-A04N-01 COSM430436 c.46C>T p.R16C Substitution - Missense 12:116741057-116741057 + CSCC-31-T COSM4521645 c.1121G>A p.G374E Substitution - Missense 12:116836203-116836203 + T3062 COSM4722223 c.173C>T p.T58M Substitution - Missense 12:116750200-116750200 + TCGA-G4-6298-01 COSM3749199 c.87C>T p.G29G Substitution - coding silent 12:116750114-116750114 + TCGA-AA-A02F-01 COSM300669 c.1011C>T p.I337I Substitution - coding silent 12:116833920-116833920 + UM-SCC-2 COSM2173379 c.511C>A p.L171M Substitution - Missense 12:116750268-116750268 + HCC62T COSM1605617 c.646G>T p.V216F Substitution - Missense 12:116766832-116766832 + TCGA-AA-A022-01 COSM2173407 c.1152C>T p.C384C Substitution - coding silent 12:116836234-116836234 + CRC-19T COSM5480992 c.604A>G p.K202E Substitution - Missense 12:116779340-116779340 + Pat_05_B COSM5840254 c.538C>T p.Q180* Substitution - Nonsense 12:116750295-116750295 + TCGA-AF-2687-01 COSM3749199 c.87C>T p.G29G Substitution - coding silent 12:116750114-116750114 + ACINAR28 COSM1732917 c.94C>T p.R32C Substitution - Missense 12:116750121-116750121 + ESCC-210T COSM3935756 c.1017C>G p.L339L Substitution - coding silent 12:116833926-116833926 + TCGA-AD-6888-01 COSM1359092 c.956A>C p.K319T Substitution - Missense 12:116833865-116833865 + 8015299 COSM3772269 c.213G>A p.S71S Substitution - coding silent 12:116749970-116749970 + TCGA-AA-3811-01 COSM5108753 c.664G>A p.A222T Substitution - Missense 12:116766850-116766850 + TCGA-AG-3882-01 COSM288455 c.1247G>A p.R416H Substitution - Missense 12:116849360-116849360 + HCC62 COSM1605617 c.646G>T p.V216F Substitution - Missense 12:116766832-116766832 + BCM337T COSM4799102 c.304G>A p.G102S Substitution - Missense 12:116750061-116750061 + HT29 COSM2173367 c.96G>T p.Q32H Substitution - Missense 12:116749853-116749853 + HCC62 COSM1605618 c.376G>T p.V126F Substitution - Missense 12:116766832-116766832 + SNU-C1 COSM2173393 c.875A>G p.K292R Substitution - Missense 12:116779341-116779341 + AOCS-134-3-9 COSM3980797 c.132C>T p.G44G Substitution - coding silent 12:116749889-116749889 + TCGA-AP-A0LM-01 COSM935575 c.756G>T p.E252D Substitution - Missense 12:116779222-116779222 + 2492700 COSM5600378 c.837A>C p.G279G Substitution - coding silent 12:116836189-116836189 + HCC62T COSM1605616 c.375G>T p.L125L Substitution - coding silent 12:116766831-116766831 + B47-Tumor COSM3931540 c.904G>A p.E302K Substitution - Missense 12:116833813-116833813 + TCGA-D5-6932-01 COSM1359095 c.726G>T p.L242L Substitution - coding silent 12:116833905-116833905 + TCGA-FS-A1ZA-06 COSM3456626 c.83G>A p.R28K Substitution - Missense 12:116741094-116741094 + TCGA-EE-A181-06 COSM3456630 c.105C>T p.S35S Substitution - coding silent 12:116750132-116750132 + TCGA-AP-A0LM-01 COSM935576 c.486G>T p.E162D Substitution - Missense 12:116779222-116779222 + TCGA-D3-A5GU-06 COSM3456628 c.78C>T p.F26F Substitution - coding silent 12:116750105-116750105 + PD8830a COSM5794386 c.914G>A p.S305N Substitution - Missense 12:116833823-116833823 + TCGA-D5-6926-01 COSM430438 c.75T>C p.H25H Substitution - coding silent 12:116750102-116750102 + TCGA-GN-A26C-01 COSM3456638 c.573C>T p.I191I Substitution - coding silent 12:116779309-116779309 + TCGA-AA-3672-01 COSM5102245 c.83+5G>A p.? Unknown 12:116741099-116741099 + HCC62 COSM1605615 c.645G>T p.L215L Substitution - coding silent 12:116766831-116766831 + TCGA-EE-A3J8-06 COSM3456636 c.552C>T p.T184T Substitution - coding silent 12:116779288-116779288 + TCGA-HU-A4H3-01 COSM1732917 c.94C>T p.R32C Substitution - Missense 12:116750121-116750121 + TCGA-D3-A5GU-06 COSM3456627 c.348C>T p.F116F Substitution - coding silent 12:116750105-116750105 + SNU-C1 COSM2173394 c.605A>G p.K202R Substitution - Missense 12:116779341-116779341 + TCGA-FW-A3R5-06 COSM3870832 c.357G>A p.K119K Substitution - coding silent 12:116754060-116754060 + T3062 COSM4722222 c.443C>T p.T148M Substitution - Missense 12:116750200-116750200 + 2492702 COSM5600377 c.1107A>C p.G369G Substitution - coding silent 12:116836189-116836189 + TCGA-BT-A20W-01 COSM416024 c.1172T>C p.F391S Substitution - Missense 12:116836254-116836254 + CSCC-31-T COSM4521646 c.851G>A p.G284E Substitution - Missense 12:116836203-116836203 + ICGC_MB77 COSM3764374 c.700G>A p.D234N Substitution - Missense 12:116833879-116833879 + CSCC-31-T COSM4520500 c.790G>A p.G264R Substitution - Missense 12:116835987-116835987 + 2492703 COSM5600377 c.1107A>C p.G369G Substitution - coding silent 12:116836189-116836189 + CRC-9 COSM304644 c.47G>A p.R16H Substitution - Missense 12:116741058-116741058 + TCGA-AA-3663-01 COSM430438 c.75T>C p.H25H Substitution - coding silent 12:116750102-116750102 + CSCC-31-T COSM4520499 c.1060G>A p.G354R Substitution - Missense 12:116835987-116835987 + BCM337T COSM4799103 c.34G>A p.G12S Substitution - Missense 12:116750061-116750061 + 587284 COSM1224030 c.627+2T>C p.? Unknown 12:116754062-116754062 + CHC1731T COSM4792142 c.676G>T p.G226W Substitution - Missense 12:116766862-116766862 + YUAKER COSM1706340 c.1039G>A p.D347N Substitution - Missense 12:116835966-116835966 + TCGA-AN-A046-01 COSM3811148 c.800A>C p.D267A Substitution - Missense 12:116779266-116779266 + TCGA-AN-A046-01 COSM3811149 c.530A>C p.D177A Substitution - Missense 12:116779266-116779266 + TCGA-AP-A051-01 COSM935580 c.752G>T p.S251I Substitution - Missense 12:116833931-116833931 + RK119_C01 COSM3739450 c.675G>A p.A225A Substitution - coding silent 12:116766861-116766861 + PDA_033 COSM4999714 c.85A>C p.N29H Substitution - Missense 12:116749842-116749842 + B47-Tumor COSM3931541 c.634G>A p.E212K Substitution - Missense 12:116833813-116833813 + TCGA-G4-6302-01 COSM430436 c.46C>T p.R16C Substitution - Missense 12:116741057-116741057 + CSCC-38-T COSM4464966 c.135C>T p.V45V Substitution - coding silent 12:116749892-116749892 + BCM337T COSM4799103 c.34G>A p.G12S Substitution - Missense 12:116750061-116750061 + TCGA-EE-A181-06 COSM3456629 c.375C>T p.S125S Substitution - coding silent 12:116750132-116750132 + TCGA-EB-A5UL-06 COSM3456633 c.795C>T p.I265I Substitution - coding silent 12:116779261-116779261 + TCGA-FW-A3R5-06 COSM3870834 c.711C>T p.S237S Substitution - coding silent 12:116833890-116833890 + TCGA-NH-A6GA-01 COSM5184751 c.1203C>T p.H401H Substitution - coding silent 12:116849316-116849316 + ATL085 COSM5704308 c.172G>A p.A58T Substitution - Missense 12:116749929-116749929 + TCGA-AA-3492-01 COSM1359091 c.93C>T p.S31S Substitution - coding silent 12:116749850-116749850 + TCGA-EB-A5UL-06 COSM3456634 c.525C>T p.I175I Substitution - coding silent 12:116779261-116779261 + TCGA-D5-6932-01 COSM1359094 c.996G>T p.L332L Substitution - coding silent 12:116833905-116833905 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.437195 12q24.22 2426902|CGAP|BC011878|C/T|non-coding||2036|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - 3-UTRDeletion . c.1332+2309delA 12 117289549 STAD A G Missense p.K286R c.857A>G 12 117217128 CM C T Missense p.A225V c.674C>T 12 117204665 BLCA C T Missense p.L244F c.730C>T 12 117217001 CM C T Missense p.R16C c.46C>T 12 117178862 BRCA C T Synonymous p.D255D c.765C>T 12 117217036 GBM C T Synonymous p.F331F c.993C>T 12 117271707 CM C T Synonymous p.I275I c.825C>T 12 117217096 HNSC C T Synonymous p.I281I c.843C>T 12 117217114 CM C T Synonymous p.I337I c.1011C>T 12 117271725 CM C T Synonymous p.I337I c.1011C>T 12 117271725 COREAD C T Synonymous p.S125S c.375C>T 12 117187937 CM C T Synonymous p.T274T c.822C>T 12 117217093 CM G A IntronicSNV . c.627+1698G>A 12 117193563 CM G A Missense p.D324N c.970G>A 12 117271684 MB G A Missense p.R28K c.83G>A 12 117178899 CM G A Missense p.R416H c.1247G>A 12 117287165 COREAD G C Missense p.G190R c.568G>C 12 117191806 CM G C Missense p.V338L c.1012G>C 12 117271726 OV G C Missense p.W411C c.1233G>C 12 117287151 OV G T IntronicSNV . c.627+1431G>T 12 117193296 CM G T Synonymous p.V263V c.789G>T 12 117217060 STAD T C Missense p.F391S c.1172T>C 12 117274059 BLCA T C Missense p.Y444H c.1330T>C 12 117287248 LUSC T C SpliceDonorSNV . c.728+2T>C 12 117204721 STAD