Entrez Gene

Basic Information
Gene ID	4089
Name	SMAD4
Synonymous	DPC4\|JIP\|MADH4;SMAD family member 4;SMAD4;SMAD family member 4
Definition	MAD homolog 4\|SMAD, mothers against DPP homolog 4\|deleted in pancreatic carcinoma locus 4\|deletion target in pancreatic carcinoma 4\|mothers against decapentaplegic homolog 4\|mothers against decapentaplegic, Drosophila, homolog of, 4
Position	18q21.1
Gene Type	protein-coding
Gene Mutation:	PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation

PCGP germline mutation [Top]
	There is no record for SMAD4

Variant (Variant; Chr; Position)	Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin)	Disease (CancerType; ValidationStatus; SequencingType)
PCGP somatic mutation [Top]
SMAD4_E12_UTR_3; chr18; 48610975	SUB; UTR_3; T; T/C; SOMATIC	MB; VALID; WGS
SMAD4_E12_UTR_3; chr18; 48605473	SUB; UTR_3; A; A/T; SOMATIC	RHB; PUTATIVE-HQ; EXOME

Mutation (CDS; AA; Chr)	Site	Histology
COSMIC somatic mutation [Top]
c.1226_1239del14; p.Q410fs*14;	large_intestine	carcinoma; adenocarcinoma
c.1082G>A; p.R361H; 18:46845917-46845917	large_intestine	carcinoma; adenocarcinoma
c.1598T>G; p.L533R;	large_intestine	carcinoma; adenocarcinoma
c.1569C>G; p.C523W; 18:46858745-46858745	large_intestine	carcinoma; adenocarcinoma
c.153_154insA; p.K51fs*2; 18:46827567-46827568	large_intestine	carcinoma; adenocarcinoma
c.1054G>A; p.G352R; 18:46845889-46845889	large_intestine	carcinoma; adenocarcinoma
c.1591C>T; p.R531W; 18:46858767-46858767	large_intestine	carcinoma; adenocarcinoma
c.1072G>T; p.G358*; 18:46845907-46845907	pancreas	other; chronic_pancreatitis
c.1616T>G; p.V539G; 18:46858792-46858792	pancreas	other; chronic_pancreatitis
c.1516G>A; p.V506M; 18:46858692-46858692	large_intestine; appendix	carcinoma; adenocarcinoma
c.785A>G; p.H262R;	lung	carcinoma; squamous_cell_carcinoma
c.1607_1607delT; p.L536fs*16; 18:46858783-46858783	large_intestine	carcinoma; adenocarcinoma
c.227G>T; p.R76I; 18:46827641-46827641	large_intestine; caecum	carcinoma; adenocarcinoma
c.1058A>G; p.Y353C; 18:46845893-46845893	large_intestine	carcinoma; adenocarcinoma
c.1096C>T; p.Q366*; 18:46845931-46845931	large_intestine	carcinoma; adenocarcinoma
c.161T>C; p.L54S; 18:46827575-46827575	large_intestine; colon	carcinoma; adenocarcinoma
c.740G>A; p.G247E; 18:46838565-46838565	large_intestine; colon	carcinoma; adenocarcinoma
c.1597C>T; p.L533F; 18:46858773-46858773	large_intestine; colon	carcinoma; adenocarcinoma
c.115G>A; p.A39T; 18:46827529-46827529	large_intestine; colon	carcinoma; adenocarcinoma
c.74G>A; p.C25Y; 18:46827488-46827488	large_intestine; colon	carcinoma; adenocarcinoma
c.1609G>T; p.D537Y; 18:46858785-46858785	large_intestine; colon	carcinoma; adenocarcinoma
c.1658G>T; p.*553?; 18:46858834-46858834	large_intestine	carcinoma; adenocarcinoma
c.1569C>G; p.C523W; 18:46858745-46858745	biliary_tract; bile_duct	carcinoma
c.437T>G; p.L146*; 18:46829675-46829675	large_intestine	carcinoma; adenocarcinoma
c.1082G>A; p.R361H; 18:46845917-46845917	large_intestine	carcinoma; adenocarcinoma
c.299G>C; p.R100T; 18:46829103-46829103	large_intestine	carcinoma; adenocarcinoma
c.1595C>T; p.A532V; 18:46858771-46858771	large_intestine	carcinoma; adenocarcinoma
c.?; p.R361C;	large_intestine; rectum	carcinoma; adenocarcinoma
c.?; p.0?;	large_intestine; colon	carcinoma; adenocarcinoma
c.?; p.0?;	large_intestine; rectum	carcinoma; adenocarcinoma
c.?; p.0?;	large_intestine; colon	carcinoma; adenocarcinoma
c.?; p.R361C;	large_intestine; colon	carcinoma; adenocarcinoma
c.?; p.R361C;	large_intestine; colon	carcinoma; adenocarcinoma
c.?; p.R361C;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1648_1659del12; p.?; 18:46858824-46858853	large_intestine; appendix	carcinoma; adenocarcinoma
c.170T>A; p.L57*; 18:46827584-46827584	gastrointestinal_tract_(site_indeterminate)	other; juvenile_polyp
c.403C>T; p.R135*; 18:46829207-46829207	gastrointestinal_tract_(site_indeterminate)	other; juvenile_polyp
c.1297G>A; p.A433T; 18:46847544-46847544	biliary_tract; bile_duct	carcinoma
c.283T>A; p.Y95N; 18:46829087-46829087	large_intestine	carcinoma; adenocarcinoma
c.153_154insA; p.K51fs*2; 18:46827567-46827568	large_intestine	carcinoma; adenocarcinoma
c.821C>A; p.A274E; 18:46838741-46838741	lung	carcinoma; adenocarcinoma
c.828C>A; p.Y276*; 18:46838748-46838748	lung	carcinoma; adenocarcinoma
c.1082G>A; p.R361H; 18:46845917-46845917	large_intestine	carcinoma; adenocarcinoma
c.403C>T; p.R135*; 18:46829207-46829207	large_intestine	carcinoma; adenocarcinoma
c.1051G>C; p.D351H; 18:46845886-46845886	lung	carcinoma; adenocarcinoma
c.403C>T; p.R135*; 18:46829207-46829207	large_intestine	carcinoma; adenocarcinoma
c.1333C>T; p.R445*; 18:46857030-46857030	large_intestine	carcinoma; adenocarcinoma
c.978delT; p.I326fs*10; 18:46845813-46845813	large_intestine	carcinoma; adenocarcinoma
c.1611C>A; p.D537E;	large_intestine	carcinoma; adenocarcinoma
c.1194G>A; p.W398*; 18:46847441-46847441	large_intestine	carcinoma; adenocarcinoma
c.1495T>C; p.C499R; 18:46858671-46858671	large_intestine	carcinoma; adenocarcinoma
c.1081C>T; p.R361C; 18:46845916-46845916	pancreas; ampulla_of_Vater	carcinoma; ductal_carcinoma
c.?; p.I179V;	lung	carcinoma; adenocarcinoma
c.1105A>G; p.N369D; 18:46845940-46845940	pancreas	carcinoid-endocrine_tumour; non_functioning
c.1_1659del1659; p.0?;	ovary	carcinoma; serous_carcinoma
c.1157G>A; p.G386D; 18:46847404-46847404	large_intestine	carcinoma; adenocarcinoma
c.1067C>T; p.P356L; 18:46845902-46845902	large_intestine; appendix	carcinoma; adenocarcinoma
c.1156G>T; p.G386C; 18:46847403-46847403	ovary	carcinoma
c.425-9A>G; p.?; 18:46829654-46829654	large_intestine	carcinoma; adenocarcinoma
c.1333C>T; p.R445*; 18:46857030-46857030	oesophagus	carcinoma; adenocarcinoma
c.?; p.Q224*;	lung	carcinoma; adenocarcinoma
c.247C>T; p.Q83*;	breast	carcinoma; lobular_carcinoma
c.1081C>T; p.R361C; 18:46845916-46845916	large_intestine	carcinoma; adenocarcinoma
c.512C>A; p.S171*; 18:46835206-46835206	large_intestine	carcinoma; adenocarcinoma
c.1052A>G; p.D351G;	large_intestine	carcinoma; adenocarcinoma
c.1612G>T; p.E538*; 18:46858788-46858788	large_intestine	carcinoma; adenocarcinoma
c.353C>T; p.A118V; 18:46829157-46829157	large_intestine	carcinoma; adenocarcinoma
c.1619T>G; p.L540R; 18:46858795-46858795	large_intestine	carcinoma; adenocarcinoma
c.1067_1068CT>AGAAG; p.P356>QK; 18:46845902-46845903	large_intestine	carcinoma; adenocarcinoma
c.1052_1054delATG; p.D351del; 18:46845887-46845889	large_intestine	carcinoma; adenocarcinoma
c.1055G>T; p.G352V; 18:46845890-46845890	large_intestine	carcinoma; adenocarcinoma
c.1351_1375del25; p.A451fs*17; 18:46857048-46857072	large_intestine	carcinoma; adenocarcinoma
c.1256G>T; p.G419V; 18:46847503-46847503	large_intestine	carcinoma; adenocarcinoma
c.1333C>T; p.R445*; 18:46857030-46857030	large_intestine	carcinoma; adenocarcinoma
c.1082G>A; p.R361H; 18:46845917-46845917	large_intestine	carcinoma; adenocarcinoma
c.157G>T; p.E53*; 18:46827571-46827571	large_intestine	carcinoma; adenocarcinoma
c.1067C>T; p.P356L; 18:46845902-46845902	large_intestine	carcinoma; adenocarcinoma
c.676G>A; p.A226T; 18:46838501-46838501	thyroid	carcinoma; papillary_carcinoma
c.788A>G; p.N263S; 18:46838708-46838708	thyroid	carcinoma; papillary_carcinoma
c.1378G>T; p.A460S; 18:46857075-46857075	large_intestine	carcinoma; adenocarcinoma
c.298A>G; p.R100G; 18:46829102-46829102	large_intestine	carcinoma; adenocarcinoma
c.1067C>G; p.P356R;	large_intestine	carcinoma; adenocarcinoma
c.1107_1112delTGTCCA; p.V370_H371del; 18:46845942-46845947	large_intestine	carcinoma; adenocarcinoma
c.1057T>C; p.Y353H; 18:46845892-46845892	large_intestine	carcinoma; adenocarcinoma
c.1612G>T; p.E538*; 18:46858788-46858788	large_intestine	carcinoma; adenocarcinoma
c.865C>T; p.Q289*;	large_intestine	carcinoma; adenocarcinoma
c.1081C>T; p.R361C; 18:46845916-46845916	large_intestine	carcinoma; adenocarcinoma
c.1490G>A; p.R497H; 18:46858666-46858666	biliary_tract; bile_duct	carcinoma
c.1321C>T; p.R441C; 18:46857018-46857018	large_intestine; colon	carcinoma; adenocarcinoma
c.1051G>T; p.D351Y; 18:46845886-46845886	large_intestine	carcinoma; adenocarcinoma
c.1369G>T; p.A457S; 18:46857066-46857066	pancreas	carcinoid-endocrine_tumour; non_functioning
c.1529G>T; p.G510V; 18:46858705-46858705	large_intestine	carcinoma; adenocarcinoma
c.1255G>T; p.G419W; 18:46847502-46847502	large_intestine	carcinoma; adenocarcinoma
c.135G>T; p.K45N; 18:46827549-46827549	large_intestine	carcinoma; adenocarcinoma
c.1333C>T; p.R445*; 18:46857030-46857030	large_intestine	carcinoma; adenocarcinoma
c.353C>T; p.A118V; 18:46829157-46829157	large_intestine	carcinoma; adenocarcinoma
c.403C>T; p.R135*; 18:46829207-46829207	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma
c.1576G>A; p.E526K; 18:46858752-46858752	large_intestine	carcinoma; adenocarcinoma
c.1308+2T>G; p.?; 18:46847557-46847557	large_intestine	carcinoma; adenocarcinoma
c.153_154insA; p.K51fs*2; 18:46827567-46827568	large_intestine	carcinoma; adenocarcinoma
c.1255G>A; p.G419R; 18:46847502-46847502	large_intestine	carcinoma; adenocarcinoma
c.514T>A; p.L172M; 18:46835208-46835208	large_intestine	carcinoma; adenocarcinoma
c.1480G>T; p.D494Y; 18:46858656-46858656	large_intestine	carcinoma; adenocarcinoma
c.1612G>T; p.E538*; 18:46858788-46858788	large_intestine	carcinoma; adenocarcinoma
c.1544G>C; p.R515T; 18:46858720-46858720	large_intestine	carcinoma; adenocarcinoma
c.737C>G; p.P246R;	large_intestine; colon	carcinoma; adenocarcinoma
c.1082G>A; p.R361H; 18:46845917-46845917	large_intestine; colon	carcinoma; adenocarcinoma
c.1081C>T; p.R361C; 18:46845916-46845916	large_intestine; colon	carcinoma; adenocarcinoma
c.1478A>C; p.D493A; 18:46858654-46858654	large_intestine; colon	carcinoma; adenocarcinoma
c.533C>A; p.S178*;	large_intestine; colon	carcinoma; adenocarcinoma
c.1066C>T; p.P356S;	large_intestine; colon	carcinoma; adenocarcinoma
c.1082G>A; p.R361H; 18:46845917-46845917	large_intestine; colon	carcinoma; adenocarcinoma
c.895G>A; p.G299R;	large_intestine; colon	carcinoma; adenocarcinoma
c.1514T>A; p.F505Y;	large_intestine; colon	carcinoma; adenocarcinoma
c.1081C>T; p.R361C; 18:46845916-46845916	large_intestine; colon	carcinoma; adenocarcinoma
c.1527G>A; p.W509*; 18:46858703-46858703	large_intestine; colon	carcinoma; adenocarcinoma
c.1139G>A; p.R380K;	large_intestine; colon	carcinoma; adenocarcinoma
c.1052A>G; p.D351G;	large_intestine; colon	carcinoma; adenocarcinoma
c.1081C>T; p.R361C; 18:46845916-46845916	large_intestine; colon	carcinoma; adenocarcinoma
c.322G>T; p.E108*;	large_intestine; colon	carcinoma; adenocarcinoma
c.1081C>T; p.R361C; 18:46845916-46845916	large_intestine; colon	carcinoma; adenocarcinoma
c.1157G>T; p.G386V;	large_intestine; colon	carcinoma; adenocarcinoma
c.1571G>C; p.W524S;	large_intestine; colon	carcinoma; adenocarcinoma
c.387T>G; p.N129K; 18:46829191-46829191	large_intestine	carcinoma; adenocarcinoma
c.292C>T; p.L98F; 18:46829096-46829096	large_intestine	carcinoma; adenocarcinoma
c.1082G>A; p.R361H; 18:46845917-46845917	large_intestine	carcinoma; adenocarcinoma
c.193G>A; p.G65R; 18:46827607-46827607	large_intestine	carcinoma; adenocarcinoma
c.1504A>G; p.R502G; 18:46858680-46858680	biliary_tract; bile_duct	carcinoma
c.1283A>C; p.K428T;	large_intestine	carcinoma; adenocarcinoma
c.1067C>T; p.P356L; 18:46845902-46845902	large_intestine	carcinoma; adenocarcinoma
c.1082G>A; p.R361H; 18:46845917-46845917	large_intestine	carcinoma; adenocarcinoma
c.1354G>A; p.A452T; 18:46857051-46857051	large_intestine	carcinoma; adenocarcinoma
c.1168G>T; p.E390*; 18:46847415-46847415	large_intestine	carcinoma; adenocarcinoma
c.1612G>T; p.E538*; 18:46858788-46858788	large_intestine	carcinoma; adenocarcinoma
c.1258C>T; p.R420C; 18:46847505-46847505	large_intestine	carcinoma; adenocarcinoma
c.1487G>A; p.R496H; 18:46858663-46858663	large_intestine	carcinoma; adenocarcinoma
c.353C>T; p.A118V; 18:46829157-46829157	large_intestine	carcinoma; adenocarcinoma
c.1529G>T; p.G510V; 18:46858705-46858705	large_intestine	carcinoma; adenocarcinoma
c.1447+5G>A; p.?; 18:46857149-46857149	large_intestine	carcinoma; adenocarcinoma
c.778_779insT; p.Y260fs*4;	pancreas	carcinoma
c.1608_1613delAGACGA; p.D537_E538delDE;	pancreas	carcinoma
c.1598_1599insCAG; p.L533_Q534insS;	pancreas	carcinoma
c.383_384insA; p.N129fs*14;	pancreas	carcinoma
c.1657T>C; p.*553R;	pancreas	carcinoma
c.1543A>T; p.R515*; 18:46858719-46858719	pancreas	carcinoid-endocrine_tumour; non_functioning
c.1216G>A; p.A406T; 18:46847463-46847463	large_intestine	carcinoma; adenocarcinoma
c.1065C>A; p.D355E; 18:46845900-46845900	large_intestine	carcinoma; adenocarcinoma
c.1_1659del1659; p.0?; 18:46827415-46858835	pancreas	carcinoma; ductal_carcinoma
c.353C>T; p.A118V; 18:46829157-46829157	large_intestine	carcinoma; adenocarcinoma
c.733C>T; p.Q245*; 18:46838558-46838558	pancreas	carcinoma; ductal_carcinoma
c.733C>T; p.Q245*; 18:46838558-46838558	pancreas	carcinoma; ductal_carcinoma
c.305C>T; p.P102L; 18:46829109-46829109	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1394_1395insT; p.A466fs*28; 18:46857091-46857092	testis	germ_cell_tumour; seminoma
c.1394_1395insT; p.A466fs*28; 18:46857091-46857092	testis	germ_cell_tumour; seminoma
c.1123_1134del12; p.A375_R378del; 18:46845958-46845969	large_intestine	carcinoma; adenocarcinoma
c.353C>A; p.A118E; 18:46829157-46829157	large_intestine	carcinoma; adenocarcinoma
c.1049T>A; p.V350D; 18:46845884-46845884	large_intestine	carcinoma; adenocarcinoma
c.1018A>G; p.K340E; 18:46845853-46845853	large_intestine	carcinoma; adenocarcinoma
c.989A>C; p.E330A; 18:46845824-46845824	large_intestine	carcinoma; adenocarcinoma
c.1000C>T; p.Q334*; 18:46845835-46845835	stomach	carcinoma; intestinal_adenocarcinoma
c.502G>T; p.G168*; 18:46835196-46835196	large_intestine	carcinoma; adenocarcinoma
c.502G>T; p.G168*; 18:46835196-46835196	large_intestine	carcinoma; adenocarcinoma
c.1015_1029del15; p.F339_S343del; 18:46845850-46845864	large_intestine	carcinoma; adenocarcinoma
c.1015_1029del15; p.F339_S343del; 18:46845850-46845864	large_intestine	carcinoma; adenocarcinoma
c.1341_1365del25; p.Q448fs*20; 18:46857038-46857062	large_intestine	carcinoma; adenocarcinoma
c.1341_1365del25; p.Q448fs*20; 18:46857038-46857062	large_intestine	carcinoma; adenocarcinoma
c.1519A>C; p.K507Q; 18:46858695-46858695	large_intestine	carcinoma; adenocarcinoma
c.1519A>C; p.K507Q; 18:46858695-46858695	large_intestine	carcinoma; adenocarcinoma
c.343T>C; p.C115R; 18:46829147-46829147	large_intestine	carcinoma; adenocarcinoma
c.585C>A; p.Y195*; 18:46835279-46835279	large_intestine	carcinoma; adenocarcinoma
c.806_807insT; p.G270fs*3; 18:46838726-46838727	large_intestine	carcinoma; adenocarcinoma
c.1082G>A; p.R361H; 18:46845917-46845917	large_intestine	carcinoma; adenocarcinoma
c.1082G>A; p.R361H; 18:46845917-46845917	large_intestine	carcinoma; adenocarcinoma
c.1087T>A; p.C363S; 18:46845922-46845922	large_intestine	carcinoma; adenocarcinoma
c.1333C>T; p.R445*; 18:46857030-46857030	large_intestine	carcinoma; adenocarcinoma
c.1349_1376del28; p.Q450fs*17; 18:46857046-46857073	large_intestine	carcinoma; adenocarcinoma
c.1490G>A; p.R497H; 18:46858666-46858666	large_intestine	adenoma
c.1201T>C; p.C401R; 18:46847448-46847448	liver	carcinoma; hepatocellular_carcinoma
c.995A>G; p.D332G; 18:46845830-46845830	liver	carcinoma; hepatocellular_carcinoma
c.1049_1051TTG>ATA; p.V350_D351>DN; 18:46845884-46845886	small_intestine; jejunum	carcinoma; adenocarcinoma
c.968_974delGGTGTTC; p.W323fs*11; 18:46845803-46845809	small_intestine; jejunum	carcinoma; adenocarcinoma
c.1081C>T; p.R361C; 18:46845916-46845916	small_intestine	carcinoma; adenocarcinoma
c.395A>T; p.H132L; 18:46829199-46829199	small_intestine; ileum	carcinoma; adenocarcinoma
c.1546C>T; p.Q516*; 18:46858722-46858722	large_intestine; rectum	other; ulcerative_colitis
c.153A>G; p.K51K; 18:46827567-46827567	ovary	carcinoma; serous_carcinoma
c.1135G>A; p.A379T; 18:46845970-46845970	ovary	carcinoma; clear_cell_carcinoma
c.950A>G; p.H317R; 18:46840279-46840279	ovary	low_malignant_potential_(borderline)_tumour; mucinous
c.904T>C; p.W302R; 18:46838824-46838824	large_intestine	carcinoma; adenocarcinoma
c.989A>C; p.E330A; 18:46845824-46845824	large_intestine	carcinoma; adenocarcinoma
c.1081C>A; p.R361S; 18:46845916-46845916	large_intestine	carcinoma; adenocarcinoma
c.1298C>T; p.A433V; 18:46847545-46847545	large_intestine	carcinoma; adenocarcinoma
c.1223T>C; p.F408S; 18:46847470-46847470	large_intestine	carcinoma; adenocarcinoma
c.607_608delCC; p.P203fs*2; 18:46835301-46835302	lung	carcinoma; adenocarcinoma
c.1259G>A; p.R420H; 18:46847506-46847506	lung	carcinoma; squamous_cell_carcinoma
c.1322G>C; p.R441P; 18:46857019-46857019	lung	carcinoma; adenocarcinoma
c.1011G>A; p.E337E; 18:46845846-46845846	pancreas	other; dysplasia-in_situ_neoplasm
c.1248A>C; p.R416S; 18:46847495-46847495	large_intestine	carcinoma; adenocarcinoma
c.403C>T; p.R135*; 18:46829207-46829207	large_intestine	carcinoma; adenocarcinoma
c.988G>A; p.E330K; 18:46845823-46845823	large_intestine	carcinoma; adenocarcinoma
c.1472G>T; p.G491V; 18:46858648-46858648	large_intestine	carcinoma; adenocarcinoma
c.1478A>C; p.D493A; 18:46858654-46858654	large_intestine	carcinoma; adenocarcinoma
c.1597C>G; p.L533V; 18:46858773-46858773	large_intestine	carcinoma; adenocarcinoma
c.1543A>T; p.R515*; 18:46858719-46858719	pancreas	carcinoma; ductal_carcinoma
c.1546_1553delCAGAGCAT; p.S517fs*7; 18:46858722-46858729	pancreas	carcinoma; ductal_carcinoma
c.1_1659del1659; p.0?; 18:46827415-46858835	pancreas	carcinoma; ductal_carcinoma
c.1_1659del1659; p.0?; 18:46827415-46858835	pancreas	carcinoma; ductal_carcinoma
c.1_1659del1659; p.0?; 18:46827415-46858835	pancreas	carcinoma; ductal_carcinoma
c.1_1659del1659; p.0?; 18:46827415-46858835	pancreas	carcinoma; ductal_carcinoma
c.1_1659del1659; p.0?; 18:46827415-46858835	pancreas	carcinoma; ductal_carcinoma
c.1_1659del1659; p.0?; 18:46827415-46858835	pancreas	carcinoma; ductal_carcinoma
c.1_1659del1659; p.0?; 18:46827415-46858835	pancreas	carcinoma; ductal_carcinoma
c.1_1659del1659; p.0?; 18:46827415-46858835	pancreas	carcinoma; ductal_carcinoma
c.971G>A; p.C324Y; 18:46845806-46845806	thyroid	carcinoma; papillary_carcinoma
c.907_908insC; p.V304fs*4; 18:46840236-46840237	thyroid	carcinoma; papillary_carcinoma
c.1487G>A; p.R496H; 18:46858663-46858663	thyroid	carcinoma; papillary_carcinoma
c.1482C>T; p.D494D; 18:46858658-46858658	thyroid	carcinoma; papillary_carcinoma
c.1648C>T; p.P550S; 18:46858824-46858824	thyroid	carcinoma; papillary_carcinoma
c.425-26T>C; p.?; 18:46829637-46829637	thyroid	other; hyperplasia
c.608C>T; p.P203L; 18:46835302-46835302	thyroid	adenoma-nodule-goitre
c.924T>C; p.L308L; 18:46840253-46840253	thyroid	adenoma-nodule-goitre
c.951T>A; p.H317Q; 18:46840280-46840280	thyroid	adenoma-nodule-goitre
c.1294A>G; p.S432G; 18:46847541-46847541	thyroid	adenoma-nodule-goitre
c.1659+26C>A; p.?; 18:46858861-46858861	thyroid	adenoma-nodule-goitre
c.941T>A; p.I314N; 18:46840270-46840270	thyroid	adenoma-nodule-goitre; Hurthle_cell_adenoma
c.382G>A; p.V128M; 18:46829186-46829186	thyroid	adenoma-nodule-goitre; Hurthle_cell_adenoma
c.1579A>G; p.I527V; 18:46858755-46858755	thyroid	adenoma-nodule-goitre; Hurthle_cell_adenoma
c.992T>C; p.M331T; 18:46845827-46845827	thyroid	carcinoma; Hurthle_cell_carcinoma
c.1016T>C; p.F339S; 18:46845851-46845851	thyroid	carcinoma; Hurthle_cell_carcinoma
c.1320_1377del58; p.R441fs*16; 18:46857017-46857074	pancreas	carcinoma; ductal_carcinoma
c.1569C>G; p.C523W; 18:46858745-46858745	pancreas	carcinoma; ductal_carcinoma
c.1477G>A; p.D493N; 18:46858653-46858653	pancreas	carcinoma; ductal_carcinoma
c.1082G>A; p.R361H; 18:46845917-46845917	large_intestine	carcinoma; adenocarcinoma
c.97G>T; p.E33*;	large_intestine	carcinoma; adenocarcinoma
c.1156G>C; p.G386R; 18:46847403-46847403	large_intestine	carcinoma; adenocarcinoma
c.1156G>C; p.G386R; 18:46847403-46847403	large_intestine	carcinoma; adenocarcinoma
c.1156G>C; p.G386R; 18:46847403-46847403	large_intestine	carcinoma; adenocarcinoma
c.1156G>C; p.G386R; 18:46847403-46847403	large_intestine	carcinoma; adenocarcinoma
c.1659A>G; p.*553W;	biliary_tract; bile_duct	carcinoma; adenocarcinoma
c.633T>C; p.T211T;	biliary_tract; bile_duct	carcinoma; adenocarcinoma
c.89_90delGA; p.S32fs*1;	biliary_tract; bile_duct	carcinoma; adenocarcinoma
c.988G>A; p.E330K; 18:46845823-46845823	biliary_tract; bile_duct	carcinoma; adenocarcinoma
c.988G>A; p.E330K; 18:46845823-46845823	pancreas	carcinoma; acinar_carcinoma
c.1157G>A; p.G386D; 18:46847404-46847404	pancreas	carcinoma; acinar_carcinoma
c.1610A>T; p.D537V;	pancreas	carcinoma; acinar_carcinoma
c.1477G>T; p.D493Y;	pancreas	other; pancreatoblastoma
c.683_684insT; p.L229fs*6;	pancreas	other; pancreatoblastoma
c.1157G>A; p.G386D; 18:46847404-46847404	pancreas	carcinoma; acinar_carcinoma
c.1_1659del1659; p.0?; 18:46827415-46858835	pancreas	carcinoma; ductal_carcinoma
c.299G>C; p.R100T; 18:46829103-46829103	pancreas	carcinoma; ductal_carcinoma
c.299G>C; p.R100T; 18:46829103-46829103	pancreas	carcinoma; ductal_carcinoma
c.346C>T; p.Q116*;	biliary_tract; bile_duct	carcinoma; adenocarcinoma
c.1283A>G; p.K428R;	biliary_tract; bile_duct	carcinoma; adenocarcinoma
c.1081C>T; p.R361C; 18:46845916-46845916	biliary_tract; bile_duct	carcinoma; adenocarcinoma
c.404G>A; p.R135Q;	biliary_tract; bile_duct	carcinoma; adenocarcinoma
c.431C>G; p.S144*; 18:46829669-46829669	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma
c.1028C>G; p.S343*; 18:46845863-46845863	biliary_tract; bile_duct	carcinoma
c.715C>T; p.Q239*; 18:46838540-46838540	liver	carcinoma
c.1_1659del1659; p.0?; 18:46827415-46858835	pancreas	carcinoma; ductal_carcinoma
c.1_1659del1659; p.0?; 18:46827415-46858835	pancreas	carcinoma; ductal_carcinoma
c.1_1659del1659; p.0?; 18:46827415-46858835	pancreas	carcinoma; ductal_carcinoma
c.1_1447del1447; p.?;	pancreas	carcinoma; ductal_carcinoma
c.905-1G>T; p.?; 18:46840233-46840233	large_intestine	carcinoma; adenocarcinoma
c.1051G>C; p.D351H; 18:46845886-46845886	large_intestine	carcinoma; adenocarcinoma
c.1051G>C; p.D351H; 18:46845886-46845886	large_intestine	carcinoma; adenocarcinoma
c.733C>T; p.Q245*; 18:46838558-46838558	upper_aerodigestive_tract; head_neck	carcinoma
c.733C>T; p.Q245*; 18:46838558-46838558	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma
c.1_1659del1659; p.0?; 18:46827415-46858835	pancreas	carcinoma; ductal_carcinoma
c.1_1659del1659; p.0?; 18:46827415-46858835	large_intestine	carcinoma; adenocarcinoma
c.1619T>G; p.L540R; 18:46858795-46858795	large_intestine	carcinoma; adenocarcinoma
c.1529G>A; p.G510E;	large_intestine	carcinoma; adenocarcinoma
c.1446_1447insAATA; p.I482fs*12; 18:46857143-46857144	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1051G>C; p.D351H; 18:46845886-46845886	large_intestine	carcinoma; adenocarcinoma
c.1051G>C; p.D351H; 18:46845886-46845886	large_intestine	carcinoma; adenocarcinoma
c.1028C>G; p.S343*; 18:46845863-46845863	pancreas	carcinoma; adenocarcinoma
c.1028C>G; p.S343*; 18:46845863-46845863	pancreas	carcinoma; ductal_carcinoma
c.1028C>G; p.S343*; 18:46845863-46845863	pancreas	carcinoma; ductal_carcinoma
c.1051G>A; p.D351N; 18:46845886-46845886	large_intestine; colon	carcinoma; adenocarcinoma
c.1082G>A; p.R361H; 18:46845917-46845917	large_intestine; colon	carcinoma; adenocarcinoma
c.1659+12G>A; p.?; 18:46858847-46858847	oesophagus	carcinoma; squamous_cell_carcinoma
c.1607_1612delTAGACG; p.L536_E538>Q;	oesophagus	carcinoma; adenocarcinoma
c.1242_1245delAGAC; p.D415fs*20;	oesophagus	carcinoma; adenocarcinoma
c.1067C>T; p.P356L; 18:46845902-46845902	oesophagus; lower_third	carcinoma; adenocarcinoma
c.1081C>T; p.R361C; 18:46845916-46845916	oesophagus	carcinoma; adenocarcinoma
c.1051G>C; p.D351H; 18:46845886-46845886	oesophagus	carcinoma; adenocarcinoma
c.1157G>A; p.G386D; 18:46847404-46847404	oesophagus; lower_third	carcinoma; adenocarcinoma
c.1287C>T; p.I429I;	oesophagus	carcinoma; adenocarcinoma
c.988G>T; p.E330*; 18:46845823-46845823	oesophagus; lower_third	carcinoma; adenocarcinoma
c.1157G>A; p.G386D; 18:46847404-46847404	oesophagus; lower_third	carcinoma; adenocarcinoma
c.296G>A; p.W99*;	oesophagus; lower_third	carcinoma; adenocarcinoma
c.1157G>A; p.G386D; 18:46847404-46847404	oesophagus	carcinoma; adenocarcinoma
c.1081C>T; p.R361C; 18:46845916-46845916	oesophagus	carcinoma; adenocarcinoma
c.1081C>G; p.R361G;	oesophagus	carcinoma; adenocarcinoma
c.1157G>T; p.G386V;	oesophagus	carcinoma; adenocarcinoma
c.1063G>A; p.D355N; 18:46845898-46845898	kidney	carcinoma; renal_cell_carcinoma
c.1468A>G; p.I490V;	liver	carcinoma; hepatocellular_carcinoma
c.220_221insT; p.Q75fs*29;	liver	carcinoma
c.1082G>A; p.R361H; 18:46845917-46845917	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma
c.931C>T; p.Q311*; 18:46840260-46840260	large_intestine	carcinoma; adenocarcinoma
c.931C>T; p.Q311*; 18:46840260-46840260	large_intestine; colon	carcinoma
c.931C>T; p.Q311*; 18:46840260-46840260	large_intestine	carcinoma; adenocarcinoma
c.590C>T; p.T197I; 18:46835284-46835284	large_intestine	carcinoma; adenocarcinoma
c.1_1659del1659; p.0?; 18:46827415-46858835	pancreas	carcinoma; ductal_carcinoma
c.1134_1135delAG; p.R378fs*14; 18:46845969-46845970	large_intestine; rectum	carcinoma; adenocarcinoma
c.742C>T; p.Q248*;	pancreas	carcinoma; ductal_carcinoma
c.1572G>C; p.W524C;	pancreas	carcinoma; ductal_carcinoma
c.1051G>C; p.D351H; 18:46845886-46845886	pancreas	carcinoma; ductal_carcinoma
c.1293delA; p.S432fs*4;	pancreas	carcinoma; ductal_carcinoma
c.966T>A; p.Y322*;	pancreas	carcinoma; ductal_carcinoma
c.1607T>A; p.L536Q;	pancreas	carcinoma; ductal_carcinoma
c.389C>T; p.P130L;	pancreas	carcinoma; ductal_carcinoma
c.131T>G; p.V44G;	pancreas	carcinoma; ductal_carcinoma
c.1577A>T; p.E526V;	pancreas	carcinoma; ductal_carcinoma
c.1484T>C; p.L495P;	ovary	carcinoma
c.1082G>A; p.R361H; 18:46845917-46845917	lung	carcinoma; adenocarcinoma
c.1216G>A; p.A406T; 18:46847463-46847463	pancreas	carcinoma; ductal_carcinoma
c.1_1659del1659; p.0?; 18:46827415-46858835	pancreas	carcinoma; ductal_carcinoma
c.128T>C; p.L43S; 18:46827542-46827542	pancreas	carcinoma; ductal_carcinoma
c.484_485delTA; p.Y162fs*3; 18:46835178-46835179	pancreas	carcinoma; ductal_carcinoma
c.585delC; p.Y195fs*1; 18:46835279-46835279	pancreas	carcinoma; ductal_carcinoma
c.788-1G>T; p.?;	lung	carcinoma; adenocarcinoma
c.1029A>T; p.S343S;	lung	carcinoma; adenocarcinoma
c.1067C>G; p.P356R;	lung	carcinoma; adenocarcinoma
c.1129_1130delGA; p.R378fs*14;	lung	carcinoma; adenocarcinoma
c.1052A>G; p.D351G;	lung	carcinoma; adenocarcinoma
c.956-1G>C; p.?;	lung	carcinoma; adenocarcinoma
c.1474G>T; p.V492F; 18:46858650-46858650	lung	carcinoma; adenocarcinoma
c.1583_1586delACTT; p.L529fs*7; 18:46858759-46858762	pancreas	carcinoid-endocrine_tumour; non_functioning
c.1512T>A; p.S504R; 18:46858688-46858688	ovary	carcinoma
c.1_1659del1659; p.0?; 18:46827415-46858835	breast	carcinoma
c.1_1659del1659; p.0?; 18:46827415-46858835	breast	carcinoma
c.1_1659del1659; p.0?; 18:46827415-46858835	stomach	carcinoma; adenocarcinoma
c.1028_1029insTC; p.S344fs*41; 18:46845863-46845864	pancreas	carcinoma; ductal_carcinoma
c.1474G>T; p.V492F; 18:46858650-46858650	biliary_tract; bile_duct	carcinoma
c.1051G>C; p.D351H; 18:46845886-46845886	pancreas	carcinoma; ductal_carcinoma
c.388C>T; p.P130S; 18:46829192-46829192	large_intestine; rectum	carcinoma; adenocarcinoma
c.1013C>A; p.T338K;	autonomic_ganglia	neuroblastoma
c.1156G>C; p.G386R; 18:46847403-46847403	large_intestine	carcinoma; adenocarcinoma
c.1_1659del1659; p.0?; 18:46827415-46858835	pancreas	carcinoma; ductal_carcinoma
c.1333C>T; p.R445*; 18:46857030-46857030	oesophagus	carcinoma; adenocarcinoma
c.1621C>T; p.H541Y;	prostate	carcinoma
c.1_1659del1659; p.0?; 18:46827415-46858835	oesophagus	carcinoma; adenocarcinoma
c.275delA; p.H92fs*2;	pancreas	carcinoma; ductal_carcinoma
c.403C>T; p.R135*; 18:46829207-46829207	pancreas	carcinoma; ductal_carcinoma
c.353C>T; p.A118V; 18:46829157-46829157	pancreas	carcinoma; ductal_carcinoma
c.1301_1302insT; p.I435fs*5;	pancreas	carcinoma; ductal_carcinoma
c.250-2A>G; p.?;	pancreas	carcinoma; ductal_carcinoma
c.1081C>T; p.R361C; 18:46845916-46845916	pancreas	carcinoma; ductal_carcinoma
c.1081C>G; p.R361G;	pancreas	carcinoma; ductal_carcinoma
c.1064A>G; p.D355G; 18:46845899-46845899	pancreas	carcinoma; ductal_carcinoma
c.1_1659del1659; p.0?; 18:46827415-46858835	pancreas	carcinoma; ductal_carcinoma
c.692_693insC; p.S232fs*3;	pancreas	carcinoma; ductal_carcinoma
c.1249G>T; p.E417*;	pancreas	carcinoma; ductal_carcinoma
c.1241_1242insAA; p.D415fs*22;	pancreas	carcinoma; ductal_carcinoma
c.1333C>T; p.R445*; 18:46857030-46857030	pancreas	carcinoma; ductal_carcinoma
c.1333C>T; p.R445*; 18:46857030-46857030	NS	NS
c.431C>G; p.S144*; 18:46829669-46829669	breast	carcinoma
c.930C>G; p.F310L;	breast	carcinoma; HER-positive_carcinoma
c.1_1659del1659; p.0?; 18:46827415-46858835	pancreas	carcinoma; ductal_carcinoma
c.1_1659del1659; p.0?; 18:46827415-46858835	pancreas	carcinoma; ductal_carcinoma
c.1_1659del1659; p.0?; 18:46827415-46858835	pancreas	carcinoma; ductal_carcinoma
c.363_364insA; p.C123fs*2; 18:46829167-46829168	pancreas	carcinoma; ductal_carcinoma
c.1543A>T; p.R515*; 18:46858719-46858719	pancreas	carcinoma; ductal_carcinoma
c.1546_1553delCAGAGCAT; p.S517fs*7; 18:46858722-46858729	pancreas	carcinoma; ductal_carcinoma
c.984C>A; p.Y328*; 18:46845819-46845819	pancreas	carcinoma; ductal_carcinoma
c.353C>T; p.A118V; 18:46829157-46829157	pancreas	carcinoma; ductal_carcinoma
c.363_364insA; p.C123fs*2; 18:46829167-46829168	pancreas	carcinoma; ductal_carcinoma
c.377T>C; p.V126A; 18:46829181-46829181	pancreas	carcinoma; ductal_carcinoma
c.733C>T; p.Q245*; 18:46838558-46838558	pancreas	carcinoma; ductal_carcinoma
c.733C>T; p.Q245*; 18:46838558-46838558	pancreas	carcinoma; ductal_carcinoma
c.1072G>T; p.G358*; 18:46845907-46845907	pancreas	carcinoma; ductal_carcinoma
c.257G>T; p.G86V; 18:46829061-46829061	pancreas	carcinoma; ductal_carcinoma
c.318_319insA; p.N107fs*2; 18:46829122-46829123	pancreas	carcinoma; ductal_carcinoma
c.1333C>T; p.R445*; 18:46857030-46857030	small_intestine; duodenum	carcinoma; adenocarcinoma
c.1081C>T; p.R361C; 18:46845916-46845916	small_intestine; duodenum	carcinoma; adenocarcinoma
c.295T>C; p.W99R; 18:46829099-46829099	pancreas	carcinoma; ductal_carcinoma
c.1058A>G; p.Y353C; 18:46845893-46845893	small_intestine; duodenum	carcinoma; adenocarcinoma
c.1447+1G>A; p.?; 18:46857145-46857145	pancreas	carcinoma; ductal_carcinoma
c.1496G>A; p.C499Y; 18:46858672-46858672	pancreas	carcinoma; ductal_carcinoma
c.956-2G>A; p.?; 18:46845789-46845789	pancreas	carcinoma; ductal_carcinoma
c.1229_1230insCA; p.Q410fs*6; 18:46847476-46847477	pancreas	carcinoma; ductal_carcinoma
c.1236C>G; p.Y412*; 18:46847483-46847483	pancreas	carcinoma; ductal_carcinoma
c.776_777delCT; p.T259fs*4; 18:46838601-46838602	pancreas	carcinoma; ductal_carcinoma
c.1333C>T; p.R445*; 18:46857030-46857030	pancreas	carcinoma; ductal_carcinoma
c.804delG; p.W268fs*1;	pancreas	NS
c.778_779insT; p.Y260fs*4;	pancreas	NS
c.1333C>T; p.R445*; 18:46857030-46857030	pancreas	carcinoma; ductal_carcinoma
c.788-1G>T; p.?;	pancreas	carcinoma; ductal_carcinoma
c.692_693insG; p.S232fs*3;	pancreas	NS
c.1600delC; p.Q534fs*3;	pancreas	NS
c.346C>T; p.Q116*;	pancreas	NS
c.1481A>G; p.D494G;	pancreas	NS
c.247C>T; p.Q83*;	pancreas	NS
c.1096C>T; p.Q366*; 18:46845931-46845931	pancreas	carcinoma; ductal_carcinoma
c.366_367insA; p.C123fs*2; 18:46829170-46829171	pancreas	NS
c.1072G>T; p.G358*; 18:46845907-46845907	pancreas	carcinoma; ductal_carcinoma
c.1447+1G>A; p.?; 18:46857145-46857145	pancreas	carcinoma; ductal_carcinoma
c.1236C>G; p.Y412*; 18:46847483-46847483	pancreas	carcinoma; ductal_carcinoma
c.1477G>C; p.D493H;	pancreas	carcinoma; ductal_carcinoma
c.776_777delCT; p.T259fs*4; 18:46838601-46838602	pancreas	carcinoma; ductal_carcinoma
c.1548_1555delGAGCATCA; p.S517fs*7;	pancreas	NS
c.353C>T; p.A118V; 18:46829157-46829157	pancreas	carcinoma; ductal_carcinoma
c.1333C>T; p.R445*; 18:46857030-46857030	pancreas	carcinoma; ductal_carcinoma
c.257G>T; p.G86V; 18:46829061-46829061	pancreas	carcinoma; ductal_carcinoma
c.320_321insA; p.N107fs*2;	pancreas	NS
c.1496G>A; p.C499Y; 18:46858672-46858672	pancreas	carcinoma; ductal_carcinoma
c.1508_1509insT; p.M503fs*24;	pancreas	NS
c.956-1G>A; p.?;	pancreas	NS
c.1229_1230insCA; p.Q410fs*6; 18:46847476-46847477	pancreas	NS
c.1228_1229insCA; p.Q410fs*6;	pancreas	carcinoma; ductal_carcinoma
c.392A>G; p.Y131C;	pancreas	NS
c.403C>T; p.R135*; 18:46829207-46829207	pancreas	carcinoma; ductal_carcinoma
c.284A>C; p.Y95S;	pancreas	NS
c.314_317delACAA; p.H105fs*4;	pancreas	NS
c.1096C>T; p.Q366*; 18:46845931-46845931	pancreas	carcinoma; ductal_carcinoma
c.1087T>C; p.C363R;	pancreas	carcinoma; ductal_carcinoma
c.1_1659del1659; p.0?; 18:46827415-46858835	pancreas	carcinoma; ductal_carcinoma
c.1140_1659del; p.?;	pancreas	carcinoma; ductal_carcinoma
c.1447_1447+3delAgta; p.?;	biliary_tract; bile_duct	carcinoma; adenocarcinoma
c.976A>C; p.I326L;	liver	carcinoma
c.1088G>A; p.C363Y; 18:46845923-46845923	large_intestine	carcinoma; adenocarcinoma
c.535A>T; p.I179F;	lung	carcinoma; small_cell_carcinoma
c.1148T>A; p.I383K; 18:46847395-46847395	pancreas	carcinoma; ductal_carcinoma
c.?; p.D360fs*24;	large_intestine	carcinoma; adenocarcinoma
c.?; p.A118V;	large_intestine	carcinoma; adenocarcinoma
c.1084_1085ins37; p.F362fs*2; 18:46845919-46845920	stomach	carcinoma; adenocarcinoma
c.1619T>G; p.L540R; 18:46858795-46858795	large_intestine	carcinoma; adenocarcinoma
c.1619T>G; p.L540R; 18:46858795-46858795	large_intestine	carcinoma; adenocarcinoma
c.955+5G>C; p.?; 18:46840289-46840289	large_intestine	carcinoma; adenocarcinoma
c.955+5G>C; p.?; 18:46840289-46840289	large_intestine	carcinoma; adenocarcinoma
c.955+5G>C; p.?; 18:46840289-46840289	large_intestine	carcinoma; adenocarcinoma
c.1051G>C; p.D351H; 18:46845886-46845886	ovary	carcinoma
c.1051G>C; p.D351H; 18:46845886-46845886	ovary	carcinoma
c.1609G>T; p.D537Y; 18:46858785-46858785	large_intestine	carcinoma; adenocarcinoma
c.1609G>T; p.D537Y; 18:46858785-46858785	large_intestine	carcinoma; adenocarcinoma
c.1_1659del1659; p.0?;	lung	carcinoma; adenocarcinoma
c.1607_1626del20; p.L536fs*11; 18:46858783-46858802	large_intestine; colon	carcinoma; adenocarcinoma
c.1020G>C; p.K340N; 18:46845855-46845855	large_intestine	carcinoma; adenocarcinoma
c.68T>G; p.L23W;	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.68T>G; p.L23W;	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1527G>A; p.W509*; 18:46858703-46858703	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1527G>A; p.W509*; 18:46858703-46858703	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1477G>A; p.D493N; 18:46858653-46858653	lung	carcinoma; adenocarcinoma
c.725C>G; p.S242*;	lung	carcinoma; adenocarcinoma
c.68T>G; p.L23W;	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.68T>G; p.L23W;	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.68T>G; p.L23W;	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.68T>G; p.L23W;	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.68T>G; p.L23W;	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.928T>C; p.F310L;	ovary	carcinoma; serous_carcinoma
c.1632G>T; p.P544P;	lung	carcinoma; squamous_cell_carcinoma
c.1611C>A; p.D537E;	lung	carcinoma; squamous_cell_carcinoma
c.1576G>T; p.E526*; 18:46858752-46858752	lung	carcinoma; squamous_cell_carcinoma
c.865C>T; p.Q289*;	lung	carcinoma; squamous_cell_carcinoma
c.1072G>T; p.G358*; 18:46845907-46845907	lung	carcinoma; adenocarcinoma
c.611C>A; p.S204Y;	lung	carcinoma; squamous_cell_carcinoma
c.431C>G; p.S144*; 18:46829669-46829669	lung	carcinoma; adenocarcinoma
c.1082G>A; p.R361H; 18:46845917-46845917	lung	carcinoma; adenocarcinoma
c.1284G>C; p.K428N;	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.547C>T; p.Q183*;	lung	carcinoma; squamous_cell_carcinoma
c.298A>T; p.R100W;	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.643C>T; p.P215S;	lung; middle_lobe	carcinoma; adenocarcinoma
c.252G>T; p.V84V;	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.1157G>T; p.G386V;	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.326T>G; p.L109R;	breast	carcinoma
c.1216G>A; p.A406T; 18:46847463-46847463	endometrium	carcinoma; endometrioid_carcinoma
c.1599C>T; p.L533L;	large_intestine; colon	carcinoma; adenocarcinoma
c.1082G>A; p.R361H; 18:46845917-46845917	large_intestine; caecum	carcinoma; adenocarcinoma
c.1064A>G; p.D355G; 18:46845899-46845899	large_intestine; colon	carcinoma; adenocarcinoma
c.1648C>A; p.P550T;	large_intestine; colon	carcinoma; adenocarcinoma
c.1481A>G; p.D494G;	large_intestine; colon	carcinoma; adenocarcinoma
c.431C>T; p.S144L;	large_intestine; colon	carcinoma; adenocarcinoma
c.1511G>T; p.S504I;	large_intestine; caecum	carcinoma; adenocarcinoma
c.170T>C; p.L57S;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1521A>G; p.K507K;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1018A>G; p.K340E; 18:46845853-46845853	large_intestine; caecum	carcinoma; adenocarcinoma
c.1028C>A; p.S343*;	large_intestine; colon	carcinoma; adenocarcinoma
c.1519A>G; p.K507E;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1321C>A; p.R441S;	large_intestine; colon	carcinoma; adenocarcinoma
c.1049T>C; p.V350A;	large_intestine; colon	carcinoma; adenocarcinoma
c.1370C>T; p.A457V;	large_intestine; colon	carcinoma; adenocarcinoma
c.1519A>G; p.K507E;	large_intestine; colon	carcinoma; adenocarcinoma
c.944delC; p.N316fs*20;	breast	carcinoma
c.686_687insG; p.S232fs*3;	large_intestine; colon	carcinoma; adenocarcinoma
c.1517T>A; p.V506E;	large_intestine; colon	carcinoma; adenocarcinoma
c.290G>A; p.R97H;	large_intestine; colon	carcinoma; adenocarcinoma
c.1069T>C; p.S357P;	large_intestine; colon	carcinoma; adenocarcinoma
c.1528G>A; p.G510R;	large_intestine; caecum	carcinoma; adenocarcinoma
c.97G>T; p.E33*;	large_intestine; colon	carcinoma; adenocarcinoma
c.1558G>T; p.E520*;	large_intestine; colon	carcinoma; adenocarcinoma
c.1082G>A; p.R361H; 18:46845917-46845917	large_intestine; colon	carcinoma; adenocarcinoma
c.296G>A; p.W99*;	large_intestine; colon	carcinoma; adenocarcinoma
c.608C>T; p.P203L; 18:46835302-46835302	large_intestine; colon	carcinoma; adenocarcinoma
c.1310T>A; p.V437D;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1082G>A; p.R361H; 18:46845917-46845917	large_intestine; colon	carcinoma; adenocarcinoma
c.788A>G; p.N263S; 18:46838708-46838708	large_intestine; colon	carcinoma; adenocarcinoma
c.1247G>T; p.R416I;	large_intestine; colon	carcinoma; adenocarcinoma
c.1547A>G; p.Q516R;	large_intestine; colon	carcinoma; adenocarcinoma
c.1321C>T; p.R441C; 18:46857018-46857018	large_intestine; colon	carcinoma; adenocarcinoma
c.1082G>A; p.R361H; 18:46845917-46845917	large_intestine; colon	carcinoma; adenocarcinoma
c.407T>C; p.V136A;	large_intestine; colon	carcinoma; adenocarcinoma
c.1487G>A; p.R496H; 18:46858663-46858663	large_intestine; colon	carcinoma; adenocarcinoma
c.89_90delGA; p.S32fs*1;	large_intestine; colon	carcinoma; adenocarcinoma
c.1598T>G; p.L533R;	large_intestine; colon	NS
c.1473T>G; p.G491G;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1519A>G; p.K507E;	large_intestine; caecum	carcinoma; adenocarcinoma
c.980C>T; p.A327V;	large_intestine; caecum	carcinoma; adenocarcinoma
c.116C>A; p.A39E;	large_intestine; colon	carcinoma; adenocarcinoma
c.431C>T; p.S144L;	large_intestine; colon	carcinoma; adenocarcinoma
c.431C>T; p.S144L;	large_intestine; colon	carcinoma; adenocarcinoma
c.1591C>A; p.R531R;	large_intestine; colon	carcinoma; adenocarcinoma
c.106_135del30; p.A36_K45del10;	large_intestine; colon	carcinoma; adenocarcinoma
c.194G>A; p.G65E;	large_intestine; colon	carcinoma; adenocarcinoma
c.400G>A; p.E134K;	large_intestine; colon	carcinoma; adenocarcinoma
c.1082G>A; p.R361H; 18:46845917-46845917	large_intestine; colon	carcinoma; adenocarcinoma
c.1539C>G; p.Y513*;	large_intestine; colon	carcinoma; adenocarcinoma
c.970T>C; p.C324R;	large_intestine; colon	carcinoma; adenocarcinoma
c.390A>G; p.P130P;	large_intestine; colon	carcinoma; adenocarcinoma
c.1517T>C; p.V506A;	large_intestine; colon	carcinoma; adenocarcinoma
c.1545A>G; p.R515R;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1609G>C; p.D537H;	large_intestine; caecum	carcinoma; adenocarcinoma
c.226A>G; p.R76G;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1321C>T; p.R441C; 18:46857018-46857018	large_intestine; rectum	NS
c.1224T>A; p.F408L;	large_intestine; rectum	carcinoma; adenocarcinoma
c.306T>C; p.P102P;	large_intestine; rectum	carcinoma; adenocarcinoma
c.972T>C; p.C324C;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1029A>G; p.S343S;	large_intestine; rectum	carcinoma; adenocarcinoma
c.430T>C; p.S144P;	large_intestine; rectum	carcinoma; adenocarcinoma
c.974_975delCC; p.S325fs*5;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1610A>T; p.D537V;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1067C>T; p.P356L; 18:46845902-46845902	large_intestine; rectum	carcinoma; adenocarcinoma
c.1082G>A; p.R361H; 18:46845917-46845917	large_intestine; rectum	carcinoma; adenocarcinoma
c.1609G>T; p.D537Y; 18:46858785-46858785	large_intestine; rectum	carcinoma; adenocarcinoma
c.1082G>A; p.R361H; 18:46845917-46845917	large_intestine; rectum	carcinoma; adenocarcinoma
c.169T>G; p.L57V;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1610A>G; p.D537G;	large_intestine; rectum	carcinoma; adenocarcinoma
c.310C>T; p.L104F;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1543A>G; p.R515G;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1283A>C; p.K428T;	endometrium	carcinoma; endometrioid_carcinoma
c.290G>A; p.R97H;	endometrium	carcinoma; endometrioid_carcinoma
c.298A>T; p.R100W;	large_intestine	carcinoma; adenocarcinoma
c.153A>G; p.K51K; 18:46827567-46827567	large_intestine	carcinoma; adenocarcinoma
c.1234T>C; p.Y412H;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1592G>A; p.R531Q;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1481A>G; p.D494G;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1074A>G; p.G358G;	large_intestine; colon	carcinoma; adenocarcinoma
c.1222T>C; p.F408L;	large_intestine; colon	carcinoma; adenocarcinoma
c.1258C>A; p.R420S;	large_intestine; colon	carcinoma; adenocarcinoma
c.1591C>A; p.R531R;	large_intestine; colon	carcinoma; adenocarcinoma
c.1158T>C; p.G386G;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1592G>A; p.R531Q;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1614A>G; p.E538E;	large_intestine; caecum	carcinoma; adenocarcinoma
c.377T>C; p.V126A; 18:46829181-46829181	large_intestine; caecum	carcinoma; adenocarcinoma
c.1591C>A; p.R531R;	large_intestine; caecum	carcinoma; adenocarcinoma
c.346C>T; p.Q116*;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1256G>T; p.G419V; 18:46847503-46847503	large_intestine; caecum	carcinoma; adenocarcinoma
c.1333C>A; p.R445R;	large_intestine; caecum	carcinoma; adenocarcinoma
c.992T>C; p.M331T; 18:46845827-46845827	large_intestine; colon	carcinoma; adenocarcinoma
c.1520A>G; p.K507R;	large_intestine; colon	carcinoma; adenocarcinoma
c.1525T>C; p.W509R;	large_intestine; colon	carcinoma; adenocarcinoma
c.349T>C; p.Y117H;	large_intestine; caecum	carcinoma; adenocarcinoma
c.432A>T; p.S144S;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1613A>G; p.E538G;	large_intestine; caecum	carcinoma; adenocarcinoma
c.502G>T; p.G168*; 18:46835196-46835196	large_intestine; caecum	carcinoma; adenocarcinoma
c.74G>A; p.C25Y; 18:46827488-46827488	large_intestine; caecum	carcinoma; adenocarcinoma
c.1576G>A; p.E526K; 18:46858752-46858752	large_intestine; caecum	carcinoma; adenocarcinoma
c.1027T>C; p.S343P;	large_intestine; colon	carcinoma; adenocarcinoma
c.1260T>C; p.R420R;	large_intestine; colon	carcinoma; adenocarcinoma
c.1512T>C; p.S504S;	large_intestine; colon	carcinoma; adenocarcinoma
c.1592G>A; p.R531Q;	large_intestine; colon	carcinoma; adenocarcinoma
c.1148T>C; p.I383T;	large_intestine; colon	carcinoma; adenocarcinoma
c.991A>G; p.M331V;	large_intestine; colon	carcinoma; adenocarcinoma
c.1505G>A; p.R502K;	large_intestine; colon	carcinoma; adenocarcinoma
c.1052A>G; p.D351G;	large_intestine; colon	carcinoma; adenocarcinoma
c.21G>A; p.T7T;	endometrium	carcinoma; endometrioid_carcinoma
c.209A>C; p.K70T;	endometrium	carcinoma; endometrioid_carcinoma
c.1612G>A; p.E538K;	endometrium	carcinoma; endometrioid_carcinoma
c.1009G>A; p.E337K;	urinary_tract; bladder	carcinoma
c.1052A>G; p.D351G;	large_intestine; colon	carcinoma; adenocarcinoma
c.1510A>G; p.S504G;	large_intestine; colon	carcinoma; adenocarcinoma
c.405A>G; p.R135R;	large_intestine; colon	carcinoma; adenocarcinoma
c.265G>T; p.G89*;	large_intestine; colon	carcinoma; adenocarcinoma
c.1601A>C; p.Q534P;	large_intestine; colon	carcinoma; adenocarcinoma
c.1579A>G; p.I527V; 18:46858755-46858755	large_intestine; colon	carcinoma; adenocarcinoma
c.1321C>A; p.R441S;	large_intestine; colon	carcinoma; adenocarcinoma
c.906G>A; p.W302*;	large_intestine; colon	carcinoma; adenocarcinoma
c.1480G>A; p.D494N;	large_intestine; colon	carcinoma; adenocarcinoma
c.1595C>A; p.A532D;	large_intestine; colon	carcinoma; adenocarcinoma
c.1323T>C; p.R441R;	large_intestine; colon	carcinoma; adenocarcinoma
c.1010A>G; p.E337G;	large_intestine; colon	carcinoma; adenocarcinoma
c.942T>C; p.I314I;	large_intestine; colon	carcinoma; adenocarcinoma
c.1001A>G; p.Q334R;	large_intestine; colon	carcinoma; adenocarcinoma
c.298A>G; p.R100G; 18:46829102-46829102	large_intestine; caecum	carcinoma; adenocarcinoma
c.1010A>G; p.E337G;	large_intestine; caecum	carcinoma; adenocarcinoma
c.405A>G; p.R135R;	large_intestine; rectum	carcinoma; adenocarcinoma
c.972T>C; p.C324C;	large_intestine; rectum	carcinoma; adenocarcinoma
c.924T>C; p.L308L; 18:46840253-46840253	large_intestine; colon	carcinoma; adenocarcinoma
c.1512T>C; p.S504S;	large_intestine; colon	carcinoma; adenocarcinoma
c.1545A>G; p.R515R;	large_intestine; colon	carcinoma; adenocarcinoma
c.1612G>A; p.E538K;	large_intestine; colon	carcinoma; adenocarcinoma
c.1333C>T; p.R445*; 18:46857030-46857030	large_intestine; colon	carcinoma; adenocarcinoma
c.256G>T; p.G86C;	large_intestine; caecum	carcinoma; adenocarcinoma
c.389C>A; p.P130Q;	large_intestine; caecum	carcinoma; adenocarcinoma
c.932A>G; p.Q311R;	large_intestine; caecum	carcinoma; adenocarcinoma
c.383T>C; p.V128A;	large_intestine; caecum	carcinoma; adenocarcinoma
c.432A>T; p.S144S;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1010A>G; p.E337G;	large_intestine; colon	carcinoma; adenocarcinoma
c.1591C>A; p.R531R;	large_intestine; colon	carcinoma; adenocarcinoma
c.1010A>G; p.E337G;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1521A>G; p.K507K;	large_intestine; colon	carcinoma; adenocarcinoma
c.1068T>C; p.P356P;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1308G>T; p.K436N;	large_intestine; colon	carcinoma; adenocarcinoma
c.1066C>T; p.P356S;	large_intestine; colon	carcinoma; adenocarcinoma
c.1512T>C; p.S504S;	large_intestine; colon	carcinoma; adenocarcinoma
c.1323T>C; p.R441R;	large_intestine; colon	carcinoma; adenocarcinoma
c.1001A>G; p.Q334R;	large_intestine; colon	carcinoma; adenocarcinoma
c.988G>C; p.E330Q; 18:46845823-46845823	large_intestine; colon	carcinoma; adenocarcinoma
c.283T>C; p.Y95H;	large_intestine; colon	carcinoma; adenocarcinoma
c.972T>C; p.C324C;	large_intestine; colon	carcinoma; adenocarcinoma
c.1094G>A; p.G365D;	large_intestine; colon	carcinoma; adenocarcinoma
c.128T>C; p.L43S; 18:46827542-46827542	large_intestine; colon	carcinoma; adenocarcinoma
c.741A>G; p.G247G;	large_intestine; colon	carcinoma; adenocarcinoma
c.1619T>C; p.L540P;	large_intestine; colon	carcinoma; adenocarcinoma
c.1525T>C; p.W509R;	large_intestine; colon	carcinoma; adenocarcinoma
c.931C>T; p.Q311*; 18:46840260-46840260	large_intestine; colon	carcinoma; adenocarcinoma
c.1473T>C; p.G491G;	large_intestine; colon	carcinoma; adenocarcinoma
c.1027T>C; p.S343P;	large_intestine; caecum	carcinoma; adenocarcinoma
c.884C>T; p.P295L;	endometrium	carcinoma; endometrioid_carcinoma
c.1557A>C; p.K519N;	endometrium	carcinoma; endometrioid_carcinoma
c.129G>T; p.L43F;	large_intestine; colon	carcinoma; adenocarcinoma
c.993G>A; p.M331I;	large_intestine; colon	carcinoma; adenocarcinoma
c.1010A>G; p.E337G;	large_intestine; colon	carcinoma; adenocarcinoma
c.1147A>G; p.I383V;	large_intestine; colon	carcinoma; adenocarcinoma
c.1323T>C; p.R441R;	large_intestine; colon	carcinoma; adenocarcinoma
c.1052A>G; p.D351G;	large_intestine; colon	carcinoma; adenocarcinoma
c.298A>G; p.R100G; 18:46829102-46829102	large_intestine; caecum	carcinoma; adenocarcinoma
c.1577A>G; p.E526G;	large_intestine; caecum	carcinoma; adenocarcinoma
c.395A>G; p.H132R;	large_intestine; colon	carcinoma; adenocarcinoma
c.1519A>G; p.K507E;	large_intestine; colon	carcinoma; adenocarcinoma
c.1081C>T; p.R361C; 18:46845916-46845916	large_intestine; colon	carcinoma; adenocarcinoma
c.1481A>G; p.D494G;	large_intestine; colon	carcinoma; adenocarcinoma
c.1591C>T; p.R531W; 18:46858767-46858767	large_intestine; colon	carcinoma; adenocarcinoma
c.1248A>G; p.R416R;	large_intestine; colon	carcinoma; adenocarcinoma
c.305C>A; p.P102H;	large_intestine; colon	carcinoma; adenocarcinoma
c.1591C>A; p.R531R;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1224T>C; p.F408F;	large_intestine; colon	carcinoma; adenocarcinoma
c.1481A>G; p.D494G;	large_intestine; colon	carcinoma; adenocarcinoma
c.1504A>G; p.R502G; 18:46858680-46858680	large_intestine; colon	carcinoma; adenocarcinoma
c.1592delG; p.A532fs*5;	large_intestine; colon	carcinoma; adenocarcinoma
c.1473T>C; p.G491G;	large_intestine; colon	carcinoma; adenocarcinoma
c.395A>G; p.H132R;	large_intestine; colon	carcinoma; adenocarcinoma
c.1052A>T; p.D351V;	large_intestine; colon	carcinoma; adenocarcinoma
c.1475T>C; p.V492A;	large_intestine; colon	carcinoma; adenocarcinoma
c.1519A>G; p.K507E;	large_intestine; colon	carcinoma; adenocarcinoma
c.1521A>G; p.K507K;	large_intestine; colon	carcinoma; adenocarcinoma
c.1576G>T; p.E526*; 18:46858752-46858752	breast	carcinoma
c.951T>C; p.H317H;	large_intestine; rectum	carcinoma; adenocarcinoma
c.389C>T; p.P130L;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1088G>A; p.C363Y; 18:46845923-46845923	large_intestine; rectum	carcinoma; adenocarcinoma
c.1157G>A; p.G386D; 18:46847404-46847404	large_intestine; rectum	carcinoma; adenocarcinoma
c.1002G>T; p.Q334H;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1520A>G; p.K507R;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1093G>C; p.G365R;	large_intestine; colon	carcinoma; adenocarcinoma
c.1447+1G>C; p.?;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1479T>C; p.D493D;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1001A>G; p.Q334R;	large_intestine; colon	carcinoma; adenocarcinoma
c.1545A>G; p.R515R;	large_intestine; colon	carcinoma; adenocarcinoma
c.988G>A; p.E330K; 18:46845823-46845823	large_intestine; colon	carcinoma; adenocarcinoma
c.394C>A; p.H132N;	large_intestine; colon	carcinoma; adenocarcinoma
c.1054G>A; p.G352R; 18:46845889-46845889	large_intestine; colon	carcinoma; adenocarcinoma
c.90A>G; p.G30G;	large_intestine; colon	carcinoma; adenocarcinoma
c.117A>G; p.A39A;	large_intestine; colon	carcinoma; adenocarcinoma
c.1053T>C; p.D351D;	large_intestine; colon	carcinoma; adenocarcinoma
c.1609G>C; p.D537H;	large_intestine; caecum	carcinoma; adenocarcinoma
c.686_687insG; p.S232fs*3;	large_intestine; colon	carcinoma; adenocarcinoma
c.383T>C; p.V128A;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1283A>T; p.K428M;	large_intestine; rectum	carcinoma; adenocarcinoma
c.121G>T; p.E41*;	large_intestine; rectum	carcinoma; adenocarcinoma
c.127T>C; p.L43L;	large_intestine; rectum	carcinoma; adenocarcinoma
c.990A>G; p.E330E;	large_intestine; rectum	carcinoma; adenocarcinoma
c.931C>T; p.Q311*; 18:46840260-46840260	large_intestine; rectum	carcinoma; adenocarcinoma
c.1248A>G; p.R416R;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1484T>G; p.L495R;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1512T>A; p.S504R; 18:46858688-46858688	prostate	carcinoma; adenocarcinoma
c.1057T>A; p.Y353N;	prostate	carcinoma; adenocarcinoma
c.996T>A; p.D332E;	large_intestine; colon	carcinoma; adenocarcinoma
c.1156G>A; p.G386S;	large_intestine; colon	carcinoma; adenocarcinoma
c.1547A>G; p.Q516R;	large_intestine; colon	carcinoma; adenocarcinoma
c.994G>T; p.D332Y;	large_intestine; colon	carcinoma; adenocarcinoma
c.1335A>G; p.R445R;	large_intestine; colon	carcinoma; adenocarcinoma
c.1081C>T; p.R361C; 18:46845916-46845916	large_intestine; colon	carcinoma; adenocarcinoma
c.984C>T; p.Y328Y;	large_intestine; colon	carcinoma; adenocarcinoma
c.533C>A; p.S178*;	large_intestine; colon	carcinoma; adenocarcinoma
c.1545A>G; p.R515R;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1086_1088delTTG; p.C363delC;	large_intestine; rectum	carcinoma; adenocarcinoma
c.431C>A; p.S144*;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1001A>G; p.Q334R;	large_intestine; rectum	carcinoma; adenocarcinoma
c.397T>A; p.Y133N;	urinary_tract; bladder	carcinoma
c.431C>T; p.S144L;	large_intestine; colon	carcinoma; adenocarcinoma
c.1519A>G; p.K507E;	large_intestine; colon	carcinoma; adenocarcinoma
c.1321C>T; p.R441C; 18:46857018-46857018	large_intestine; colon	carcinoma; adenocarcinoma
c.306T>C; p.P102P;	large_intestine; colon	carcinoma; adenocarcinoma
c.1335A>G; p.R445R;	large_intestine; colon	carcinoma; adenocarcinoma
c.1052A>G; p.D351G;	large_intestine; colon	carcinoma; adenocarcinoma
c.306T>C; p.P102P;	large_intestine; colon	carcinoma; adenocarcinoma
c.1321C>T; p.R441C; 18:46857018-46857018	large_intestine; colon	carcinoma; adenocarcinoma
c.116C>A; p.A39E;	large_intestine; colon	carcinoma; adenocarcinoma
c.687delG; p.G231fs*10;	large_intestine; colon	carcinoma; adenocarcinoma
c.904+2T>C; p.?;	large_intestine; colon	carcinoma; adenocarcinoma
c.115G>A; p.A39T; 18:46827529-46827529	large_intestine; colon	carcinoma; adenocarcinoma
c.1217C>T; p.A406V;	large_intestine; caecum	carcinoma; adenocarcinoma
c.678C>T; p.A226A;	large_intestine; colon	carcinoma; adenocarcinoma
c.121G>A; p.E41K;	large_intestine; colon	carcinoma; adenocarcinoma
c.153A>G; p.K51K; 18:46827567-46827567	large_intestine; colon	carcinoma; adenocarcinoma
c.123A>G; p.E41E;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1016T>A; p.F339Y;	large_intestine; caecum	carcinoma; adenocarcinoma
c.129G>T; p.L43F;	large_intestine; colon	carcinoma; adenocarcinoma
c.1248A>G; p.R416R;	large_intestine; colon	carcinoma; adenocarcinoma
c.1510A>G; p.S504G;	large_intestine; colon	carcinoma; adenocarcinoma
c.432A>T; p.S144S;	large_intestine; colon	carcinoma; adenocarcinoma
c.1001A>T; p.Q334L;	large_intestine; colon	carcinoma; adenocarcinoma
c.1476T>C; p.V492V;	large_intestine; colon	carcinoma; adenocarcinoma
c.906G>A; p.W302*;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1081C>T; p.R361C; 18:46845916-46845916	large_intestine; caecum	carcinoma; adenocarcinoma
c.766C>T; p.Q256*; 18:46838591-46838591	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.533C>G; p.S178*;	stomach	carcinoma; intestinal_adenocarcinoma
c.547C>T; p.Q183*;	biliary_tract; bile_duct	carcinoma; adenocarcinoma
c.1576G>T; p.E526*; 18:46858752-46858752	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma
c.1576G>T; p.E526*; 18:46858752-46858752	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma
c.988G>C; p.E330Q; 18:46845823-46845823	large_intestine; colon	adenoma
c.1064A>C; p.D355A; 18:46845899-46845899	large_intestine; colon	adenoma
c.715C>T; p.Q239*; 18:46838540-46838540	large_intestine	carcinoma; adenocarcinoma
c.394C>A; p.H132N;	biliary_tract; bile_duct	carcinoma; adenocarcinoma
c.1526G>A; p.W509*;	prostate	carcinoma
c.1540C>T; p.P514S;	skin	malignant_melanoma
c.757_758delTT; p.F253fs*10;	stomach	adenocarcinoma

PCGP germline mutation [Top]

PCGP somatic mutation [Top]

COSMIC somatic mutation [Top]