lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	6927
Symbol	HNF1A
Synonymous	HNF-1A\|HNF1\|IDDM20\|LFB1\|MODY3\|TCF-1\|TCF1
Full name	HNF1 homeobox A
Gene description	HNF-1-alpha\|albumin proximal factor\|hepatic nuclear factor 1\|hepatocyte nuclear factor 1-alpha\|interferon production regulator factor\|liver-specific transcription factor LF-B1\|transcription factor 1, hepatic
Cytoband	12q24.2
Gene type	protein-coding
Synonymous	MIM:142410; HGNC:HGNC:11621; Ensembl:ENSG00000135100; HPRD:00800; Vega:OTTHUMG00000151015

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.803T>G; p.F268C; 12:120994253-120994253	liver	other; adenoma	Substitution - Missense
c.1539C>A; p.T513T; 12:120999305-120999305	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1539C>A; p.T513T; 12:120999305-120999305	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1424C>T; p.P475L; 12:120997588-120997588	skin	malignant_melanoma	Substitution - Missense
c.465G>A; p.K155K; 12:120988971-120988971	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.653A>G; p.Y218C; 12:120993646-120993646	breast	carcinoma	Substitution - Missense
c.653A>G; p.Y218C; 12:120993646-120993646	liver	other; adenoma	Substitution - Missense
c.327G>A; p.Q109Q; 12:120988833-120988833	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.249_250insC; p.I85fs*11; 12:120979017-120979018	liver	carcinoma; hepatocellular_carcinoma	Insertion - Frameshift
c.682G>T; p.E228*; 12:120993675-120993675	liver	other; adenoma	Substitution - Nonsense
c.1589T>C; p.L530P; 12:120999355-120999355	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.465G>T; p.K155N; 12:120988971-120988971	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1213A>T; p.M405L; 12:120996646-120996646	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1405C>T; p.H469Y; 12:120997569-120997569	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.526C>T; p.Q176*; 12:120989032-120989032	liver	other; adenoma	Substitution - Nonsense
c.702G>A; p.E234E; 12:120993695-120993695	skin	malignant_melanoma	Substitution - coding silent
c.426C>T; p.S142S; 12:120988932-120988932	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.779C>T; p.T260M; 12:120994229-120994229	liver	other; adenoma	Substitution - Missense
c.779C>T; p.T260M; 12:120994229-120994229	liver	other; adenoma	Substitution - Missense
c.392G>A; p.R131Q; 12:120988898-120988898	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.341G>T; p.R114L; 12:120988847-120988847	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.779C>T; p.T260M; 12:120994229-120994229	liver	other; adenoma	Substitution - Missense
c.620G>A; p.G207D; 12:120993613-120993613	liver	other; adenoma	Substitution - Missense
c.620G>A; p.G207D; 12:120993613-120993613	liver	other; adenoma	Substitution - Missense
c.811C>T; p.R271W; 12:120994261-120994261	liver	other; adenoma	Substitution - Missense
c.1441C>T; p.Q481*; 12:120997605-120997605	liver	other; adenoma	Substitution - Nonsense
c.1703C>T; p.P568L; 12:120999562-120999562	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.326+2_326+3delTA; p.?; 12:120979096-120979097	liver	other; adenoma	Unknown
c.1288G>T; p.G430C; 12:120996721-120996721	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1721G>A; p.S574N; 12:120999580-120999580	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.863_864insC; p.P289fs*28; 12:120994313-120994314	breast	carcinoma	Insertion - Frameshift
c.863_864insC; p.P289fs*28; 12:120994313-120994314	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1721G>A; p.S574N; 12:120999580-120999580	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1063G>T; p.G355C; 12:120996369-120996369	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.711T>G; p.N237K; 12:120993704-120993704	liver	other; adenoma	Substitution - Missense
c.631C>T; p.Q211*; 12:120993624-120993624	liver	other; adenoma	Substitution - Nonsense
c.775G>C; p.V259L; 12:120994225-120994225	liver	other; adenoma	Substitution - Missense
c.1375C>T; p.L459L; 12:120997539-120997539	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1545G>A; p.T515T; 12:120999311-120999311	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1545G>A; p.T515T; 12:120999311-120999311	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1545G>A; p.T515T; 12:120999311-120999311	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1545G>A; p.T515T; 12:120999311-120999311	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1545G>A; p.T515T; 12:120999311-120999311	thyroid	other; neoplasm	Substitution - coding silent
c.368_369ins24; p.L123_Q124insGEDGQVLP; 12:120988874-120988875	liver	other; adenoma	Insertion - In frame
c.788G>T; p.R263L; 12:120994238-120994238	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.788G>T; p.R263L; 12:120994238-120994238	liver	other; adenoma	Substitution - Missense
c.235G>A; p.E79K; 12:120979003-120979003	skin	malignant_melanoma	Substitution - Missense
c.197_198insA; p.T67fs*29; 12:120978965-120978966	liver	other; adenoma	Insertion - Frameshift
c.392G>T; p.R131L; 12:120988898-120988898	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.392G>T; p.R131L; 12:120988898-120988898	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.633G>A; p.Q211Q; 12:120993626-120993626	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.153C>A; p.G51G; 12:120978921-120978921	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.138G>A; p.K46K; 12:120978906-120978906	skin	malignant_melanoma	Substitution - coding silent
c.1019C>T; p.P340L; 12:120996325-120996325	skin	malignant_melanoma	Substitution - Missense
c.599G>A; p.R200Q; 12:120993592-120993592	skin	malignant_melanoma	Substitution - Missense
c.956delG; p.G319fs*23; 12:120996262-120996262	liver	other; adenoma	Deletion - Frameshift
c.1014C>T; p.G338G; 12:120996320-120996320	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1014C>T; p.G338G; 12:120996320-120996320	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1335T>G; p.S445R; 12:120997499-120997499	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.147C>T; p.S49S; 12:120978915-120978915	skin	malignant_melanoma	Substitution - coding silent
c.365A>G; p.Y122C; 12:120988871-120988871	liver	carcinoma	Substitution - Missense
c.1014C>T; p.G338G; 12:120996320-120996320	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1391T>C; p.F464S; 12:120997555-120997555	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.365A>G; p.Y122C; 12:120988871-120988871	liver	carcinoma	Substitution - Missense
c.710A>G; p.N237S; 12:120993703-120993703	liver	other; adenoma	Substitution - Missense
c.526+1G>A; p.?; 12:120989033-120989033	liver	other; adenoma	Unknown
c.526+1G>A; p.?; 12:120989033-120989033	liver	other; adenoma	Unknown
c.710A>G; p.N237S; 12:120993703-120993703	liver	other; adenoma	Substitution - Missense
c.373C>A; p.Q125K; 12:120988879-120988879	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.710A>G; p.N237S; 12:120993703-120993703	liver	other; adenoma	Substitution - Missense
c.526+1G>A; p.?; 12:120989033-120989033	liver	other; adenoma	Unknown
c.710A>G; p.N237S; 12:120993703-120993703	liver	other; adenoma	Substitution - Missense
c.526+1G>A; p.?; 12:120989033-120989033	liver	other; adenoma	Unknown
c.618_628del11; p.W206fs*10; 12:120993611-120993621	liver	other; adenoma	Deletion - Frameshift
c.862delG; p.P291fs*51; 12:120994312-120994312	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.862delG; p.P291fs*51; 12:120994312-120994312	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.862delG; p.P291fs*51; 12:120994312-120994312	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.862delG; p.P291fs*51; 12:120994312-120994312	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.862delG; p.P291fs*51; 12:120994312-120994312	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.862delG; p.P291fs*51; 12:120994312-120994312	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.862delG; p.P291fs*51; 12:120994312-120994312	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.862delG; p.P291fs*51; 12:120994312-120994312	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.862delG; p.P291fs*51; 12:120994312-120994312	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1072_1073CC>NNNNNNNNNNN; p.P358>XXXX; 12:120996378-120996379	liver	other; adenoma	Complex - insertion inframe
c.1131delC; p.P379fs*5; 12:120996564-120996564	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.60delG; p.L21fs*1; 12:120978828-120978828	liver	other; adenoma	Deletion - Frameshift
c.1072_1073CC>NNNNNNNNNNN; p.P358>XXXX; 12:120996378-120996379	liver	other; adenoma	Complex - insertion inframe
c.1131delC; p.P379fs*5; 12:120996564-120996564	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.1131delC; p.P379fs*5; 12:120996564-120996564	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.618G>C; p.W206C; 12:120993611-120993611	liver	other; adenoma	Substitution - Missense
c.618G>C; p.W206C; 12:120993611-120993611	liver	other; adenoma	Substitution - Missense
c.521C>T; p.A174V; 12:120989027-120989027	skin	malignant_melanoma	Substitution - Missense
c.875G>A; p.G292E; 12:120994325-120994325	skin	malignant_melanoma	Substitution - Missense
c.695T>A; p.L232Q; 12:120993688-120993688	liver	other; adenoma	Substitution - Missense
c.476G>T; p.R159L; 12:120988982-120988982	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1340C>T; p.P447L; 12:120997504-120997504	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.132_156del25; p.D45fs*102; 12:120978900-120978924	liver	other; adenoma	Deletion - Frameshift
c.1340C>T; p.P447L; 12:120997504-120997504	liver	other; adenoma	Substitution - Missense
c.1055C>T; p.S352F; 12:120996361-120996361	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.306C>A; p.A102A; 12:120979074-120979074	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.787C>T; p.R263C; 12:120994237-120994237	liver	other; adenoma	Substitution - Missense
c.787C>T; p.R263C; 12:120994237-120994237	liver	other; adenoma	Substitution - Missense
c.1377G>A; p.L459L; 12:120997541-120997541	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.811_812insCGG; p.R271>PG; 12:120994261-120994262	liver	carcinoma; hepatocellular_carcinoma	Complex - insertion inframe
c.293C>G; p.A98G; 12:120979061-120979061	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.403G>A; p.D135N; 12:120988909-120988909	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.462G>A; p.M154I; 12:120988968-120988968	skin	malignant_melanoma	Substitution - Missense
c.462G>A; p.M154I; 12:120988968-120988968	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.326+3A>G; p.?; 12:120979097-120979097	liver	carcinoma	Unknown
c.326+3A>G; p.?; 12:120979097-120979097	liver	carcinoma	Unknown
c.1011C>T; p.S337S; 12:120996317-120996317	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.327-2A>T; p.?; 12:120988831-120988831	liver	other; adenoma	Unknown
c.327-2A>T; p.?; 12:120988831-120988831	liver	other; adenoma	Unknown
c.1011C>T; p.S337S; 12:120996317-120996317	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.436C>A; p.Q146K; 12:120988942-120988942	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.864_865insC; p.G292fs*25; 12:120994314-120994315	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.864_865insC; p.G292fs*25; 12:120994314-120994315	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1108-2A>G; p.?; 12:120996539-120996539	liver	other; adenoma	Unknown
c.775G>T; p.V259F; 12:120994225-120994225	liver	carcinoma	Substitution - Missense
c.1163G>A; p.S388N; 12:120996596-120996596	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.775G>T; p.V259F; 12:120994225-120994225	liver	carcinoma	Substitution - Missense
c.1228G>T; p.G410W; 12:120996661-120996661	liver	carcinoma	Substitution - Missense
c.711T>A; p.N237K; 12:120993704-120993704	liver	other; adenoma	Substitution - Missense
c.534_535insA; p.H179fs*9; 12:120993527-120993528	liver	other; adenoma	Insertion - Frameshift
c.327-1G>T; p.?; 12:120988832-120988832	liver	other; adenoma	Unknown
c.340_343delCGTG; p.R114fs*40; 12:120988846-120988849	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.1_173del173; p.?; 12:120978769-120978941	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1692C>T; p.T564T; 12:120999551-120999551	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.1280_1281CC>TT; p.T427I; 12:120996713-120996714	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.60G>A; p.G20G; 12:120978828-120978828	skin	malignant_melanoma	Substitution - coding silent
c.504C>G; p.R168R; 12:120989010-120989010	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1741G>A; p.A581T; 12:120999600-120999600	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.502C>T; p.R168C; 12:120989008-120989008	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.502C>T; p.R168C; 12:120989008-120989008	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.502C>T; p.R168C; 12:120989008-120989008	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.564G>T; p.E188D; 12:120993557-120993557	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.18_36>T; p.Q7_L12delQLQTEL; 12:120978786-120978804	liver	other; adenoma	Deletion - In frame
c.108C>A; p.Y36*; 12:120978876-120978876	liver	other; adenoma	Substitution - Nonsense
c.685C>T; p.R229*; 12:120993678-120993678	liver	other; adenoma	Substitution - Nonsense
c.389A>C; p.Q130P; 12:120988895-120988895	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.685C>T; p.R229*; 12:120993678-120993678	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.97_103delCCGGGGC; p.G34fs*119; 12:120978865-120978871	liver	other; adenoma	Deletion - Frameshift
c.749A>G; p.Q250R; 12:120994199-120994199	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.99G>C; p.P33P; 12:120978867-120978867	thyroid	other; neoplasm	Substitution - coding silent
c.618G>T; p.W206C; 12:120993611-120993611	liver	other; adenoma	Substitution - Missense
c.618G>T; p.W206C; 12:120993611-120993611	liver	other; adenoma	Substitution - Missense
c.618G>T; p.W206C; 12:120993611-120993611	liver	other; adenoma	Substitution - Missense
c.618G>T; p.W206C; 12:120993611-120993611	liver	other; adenoma	Substitution - Missense
c.618G>T; p.W206C; 12:120993611-120993611	liver	other; adenoma	Substitution - Missense
c.618G>T; p.W206C; 12:120993611-120993611	liver	other; adenoma	Substitution - Missense
c.618G>T; p.W206C; 12:120993611-120993611	liver	other; adenoma	Substitution - Missense
c.226G>A; p.D76N; 12:120978994-120978994	skin	malignant_melanoma	Substitution - Missense
c.1765A>T; p.T589S; 12:120999624-120999624	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1606C>T; p.L536F; 12:120999372-120999372	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.335C>T; p.P112L; 12:120988841-120988841	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.833G>A; p.R278Q; 12:120994283-120994283	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1124G>C; p.G375A; 12:120996557-120996557	kidney	other; neoplasm	Substitution - Missense
c.493T>C; p.W165R; 12:120988999-120988999	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1067_1073delTGGAGCC; p.L356fs*6; 12:120996373-120996379	liver	other; adenoma	Deletion - Frameshift
c.834_835ins35; p.H279fs*75; 12:120994284-120994285	liver	other; adenoma	Insertion - Frameshift
c.27_33delGACGGAG; p.Q9fs*11; 12:120978795-120978801	liver	other; adenoma	Deletion - Frameshift
c.1720A>G; p.S574G; 12:120999579-120999579	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.814C>A; p.R272S; 12:120994264-120994264	liver	other; adenoma	Substitution - Missense
c.339_342delGCGT; p.R114fs*40; 12:120988845-120988848	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.196G>T; p.E66*; 12:120978964-120978964	liver	other; adenoma	Substitution - Nonsense
c.814C>A; p.R272S; 12:120994264-120994264	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.196G>T; p.E66*; 12:120978964-120978964	liver	other; adenoma	Substitution - Nonsense
c.814C>A; p.R272S; 12:120994264-120994264	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.339_342delGCGT; p.R114fs*40; 12:120988845-120988848	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.479C>A; p.A160D; 12:120988985-120988985	skin	malignant_melanoma	Substitution - Missense
c.829_837delTTCCGGCAC; p.F277_H279delFRH; 12:120994279-120994287	liver	other; adenoma	Deletion - In frame
c.378C>A; p.H126Q; 12:120988884-120988884	breast	carcinoma	Substitution - Missense
c.864G>T; p.G288G; 12:120994314-120994314	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1383C>T; p.P461P; 12:120997547-120997547	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.608G>T; p.R203L; 12:120993601-120993601	liver	other; adenoma	Substitution - Missense
c.700G>A; p.E234K; 12:120993693-120993693	skin	malignant_melanoma	Substitution - Missense
c.1699G>A; p.V567I; 12:120999558-120999558	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.812_813insCGG; p.R271_R272insG; 12:120994262-120994263	liver	carcinoma; hepatocellular_carcinoma	Insertion - In frame
c.1341G>A; p.P447P; 12:120997505-120997505	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.710_711insA; p.N237fs*2; 12:120993703-120993704	liver	other; adenoma	Insertion - Frameshift
c.685C>G; p.R229G; 12:120993678-120993678	liver	other; adenoma	Substitution - Missense
c.1107+1G>T; p.?; 12:120996414-120996414	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.1107+1G>T; p.?; 12:120996414-120996414	liver	other; adenoma	Unknown
c.872delC; p.P291fs*51; 12:120994322-120994322	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.872delC; p.P291fs*51; 12:120994322-120994322	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.872delC; p.P291fs*51; 12:120994322-120994322	liver	other; adenoma	Deletion - Frameshift
c.872delC; p.P291fs*51; 12:120994322-120994322	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.872delC; p.P291fs*51; 12:120994322-120994322	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.872delC; p.P291fs*51; 12:120994322-120994322	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.872delC; p.P291fs*51; 12:120994322-120994322	endometrium	carcinoma; mucinous_carcinoma	Deletion - Frameshift
c.872delC; p.P291fs*51; 12:120994322-120994322	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.872delC; p.P291fs*51; 12:120994322-120994322	liver	other; adenoma	Deletion - Frameshift
c.872delC; p.P291fs*51; 12:120994322-120994322	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.872delC; p.P291fs*51; 12:120994322-120994322	liver	other; adenoma	Deletion - Frameshift
c.872delC; p.P291fs*51; 12:120994322-120994322	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1238C>T; p.T413I; 12:120996671-120996671	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.872delC; p.P291fs*51; 12:120994322-120994322	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.872delC; p.P291fs*51; 12:120994322-120994322	liver	other; adenoma	Deletion - Frameshift
c.872delC; p.P291fs*51; 12:120994322-120994322	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.872delC; p.P291fs*51; 12:120994322-120994322	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.872delC; p.P291fs*51; 12:120994322-120994322	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.872delC; p.P291fs*51; 12:120994322-120994322	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1274_1275delCG; p.T425fs*123; 12:120996707-120996708	liver	other; adenoma	Deletion - Frameshift
c.872delC; p.P291fs*51; 12:120994322-120994322	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.872delC; p.P291fs*51; 12:120994322-120994322	liver	other; adenoma	Deletion - Frameshift
c.749A>C; p.Q250P; 12:120994199-120994199	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1781G>T; p.S594I; 12:121001077-121001077	liver	carcinoma	Substitution - Missense
c.1781G>T; p.S594I; 12:121001077-121001077	liver	carcinoma	Substitution - Missense
c.749A>C; p.Q250P; 12:120994199-120994199	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.749A>C; p.Q250P; 12:120994199-120994199	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.499G>A; p.V167I; 12:120989005-120989005	meninges	meningioma; secretory	Substitution - Missense
c.239A>G; p.D80G; 12:120979007-120979007	skin	malignant_melanoma	Substitution - Missense
c.391C>T; p.R131W; 12:120988897-120988897	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.391C>T; p.R131W; 12:120988897-120988897	liver	other; adenoma	Substitution - Missense
c.391C>T; p.R131W; 12:120988897-120988897	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.613A>C; p.K205Q; 12:120993606-120993606	liver	other; adenoma	Substitution - Missense
c.105_144>TTC; p.Y36fs*107; 12:120978873-120978912	liver	other; adenoma	Complex - frameshift
c.730A>G; p.R244G; 12:120994180-120994180	liver	other; adenoma	Substitution - Missense
c.811_818delCGGCGCAA; p.K273fs*41; 12:120994261-120994268	liver	other; adenoma	Deletion - Frameshift
c.730A>G; p.R244G; 12:120994180-120994180	liver	other; adenoma	Substitution - Missense
c.475C>T; p.R159W; 12:120988981-120988981	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Missense
c.1738C>T; p.P580S; 12:120999597-120999597	skin	malignant_melanoma	Substitution - Missense
c.5T>C; p.V2A; 12:120978773-120978773	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5T>C; p.V2A; 12:120978773-120978773	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1767A>G; p.T589T; 12:120999626-120999626	liver	carcinoma	Substitution - coding silent
c.1574C>T; p.T525I; 12:120999340-120999340	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1767A>G; p.T589T; 12:120999626-120999626	liver	carcinoma	Substitution - coding silent
c.198_202delGACTC; p.T67fs*27; 12:120978966-120978970	liver	other; adenoma	Deletion - Frameshift
c.1574C>T; p.T525I; 12:120999340-120999340	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1581C>T; p.T527T; 12:120999347-120999347	skin	malignant_melanoma	Substitution - coding silent
c.1249_1250insT; p.G417fs*2; 12:120996682-120996683	liver	other; adenoma	Insertion - Frameshift
c.629C>T; p.S210F; 12:120993622-120993622	liver	other; adenoma	Substitution - Missense
c.133_149del17; p.D45fs*9; 12:120978901-120978917	liver	other; adenoma	Deletion - Frameshift
c.629C>T; p.S210F; 12:120993622-120993622	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.747_764del18; p.Q250_G255delQAQGLG; 12:120994197-120994214	liver	other; adenoma	Deletion - In frame
c.71_82del12; p.I27_L30delIQAL; 12:120978839-120978850	liver	other; adenoma	Deletion - In frame
c.747_764del18; p.Q250_G255delQAQGLG; 12:120994197-120994214	liver	carcinoma; hepatocellular_carcinoma	Deletion - In frame
c.1599G>A; p.L533L; 12:120999365-120999365	skin	malignant_melanoma	Substitution - coding silent
c.865_866insC; p.G292fs*25; 12:120994315-120994316	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.747_764del18; p.Q250_G255delQAQGLG; 12:120994197-120994214	liver	carcinoma; hepatocellular_carcinoma	Deletion - In frame
c.526+1_526+13delGTAAGTAATGACC; p.?; 12:120989033-120989045	liver	other; adenoma	Unknown
c.747_764del18; p.Q250_G255delQAQGLG; 12:120994197-120994214	liver	carcinoma; hepatocellular_carcinoma	Deletion - In frame
c.865_866insC; p.G292fs*25; 12:120994315-120994316	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.476_479delGGGC; p.R159fs*26; 12:120988982-120988985	liver	other; adenoma	Deletion - Frameshift
c.412_413GG>AA; p.G138N; 12:120988918-120988919	skin	malignant_melanoma	Substitution - Missense
c.1042delC; p.L348fs*16; 12:120996348-120996348	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1270C>A; p.P424T; 12:120996703-120996703	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1270C>A; p.P424T; 12:120996703-120996703	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.864delG; p.P291fs*51; 12:120994314-120994314	large_intestine; colon	carcinoma	Deletion - Frameshift
c.1251T>A; p.G417G; 12:120996684-120996684	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.570_577delAGGTGATG; p.G191fs*26; 12:120993563-120993570	liver	other; adenoma	Deletion - Frameshift
c.861C>T; p.S287S; 12:120994311-120994311	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1769-2A>G; p.?; 12:121001063-121001063	stomach	carcinoma; adenocarcinoma	Unknown
c.669C>T; p.N223N; 12:120993662-120993662	skin	malignant_melanoma	Substitution - coding silent
c.1332G>C; p.Q444H; 12:120997496-120997496	urinary_tract; bladder	carcinoma	Substitution - Missense
c.621C>A; p.G207G; 12:120993614-120993614	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1108-1G>T; p.?; 12:120996540-120996540	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1879G>C; p.A627P; 12:121001175-121001175	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1774T>C; p.S592P; 12:121001070-121001070	liver	carcinoma	Substitution - Missense
c.1774T>C; p.S592P; 12:121001070-121001070	liver	carcinoma	Substitution - Missense
c.770A>C; p.N257T; 12:120994220-120994220	liver	other; adenoma	Substitution - Missense
c.379A>T; p.N127Y; 12:120988885-120988885	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.379A>T; p.N127Y; 12:120988885-120988885	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.185_194del10; p.N62fs*90; 12:120978953-120978962	liver	other; adenoma	Deletion - Frameshift
c.713+8_713+9insAGT; p.?; 12:120993714-120993715	liver	other; adenoma	Unknown
c.1772C>A; p.S591Y; 12:121001068-121001068	oesophagus	carcinoma	Substitution - Missense
c.197A>G; p.E66G; 12:120978965-120978965	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.379A>T; p.N127Y; 12:120988885-120988885	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.854C>T; p.T285M; 12:120994304-120994304	pancreas	carcinoma	Substitution - Missense
c.396_397GG>AA; p.V133M; 12:120988902-120988903	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.56C>A; p.S19*; 12:120978824-120978824	liver	other; adenoma	Substitution - Nonsense
c.695_697delTAG; p.V233delV; 12:120993688-120993690	liver	other; adenoma	Deletion - In frame
c.1288_1289delGG; p.G430fs*118; 12:120996721-120996722	liver	other; adenoma	Deletion - Frameshift
c.56C>A; p.S19*; 12:120978824-120978824	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.689_713+6del31; p.?; 12:120993682-120993712	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.527-2A>G; p.?; 12:120993518-120993518	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.527-2A>G; p.?; 12:120993518-120993518	liver	other; adenoma	Unknown
c.607C>T; p.R203C; 12:120993600-120993600	liver	other; adenoma	Substitution - Missense
c.607C>T; p.R203C; 12:120993600-120993600	liver	other; adenoma	Substitution - Missense
c.527-2A>G; p.?; 12:120993518-120993518	liver	other; adenoma	Unknown
c.872_873insC; p.G292fs*25; 12:120994322-120994323	liver	other; adenoma	Insertion - Frameshift
c.872_873insC; p.G292fs*25; 12:120994322-120994323	liver	other; adenoma	Insertion - Frameshift
c.872_873insC; p.G292fs*25; 12:120994322-120994323	liver	other; adenoma	Insertion - Frameshift
c.872_873insC; p.G292fs*25; 12:120994322-120994323	liver	carcinoma; hepatocellular_carcinoma	Insertion - Frameshift
c.872_873insC; p.G292fs*25; 12:120994322-120994323	liver	other; adenoma	Insertion - Frameshift
c.872_873insC; p.G292fs*25; 12:120994322-120994323	liver	other; adenoma	Insertion - Frameshift
c.872_873insC; p.G292fs*25; 12:120994322-120994323	liver	other; adenoma	Insertion - Frameshift
c.872_873insC; p.G292fs*25; 12:120994322-120994323	liver	other; adenoma	Insertion - Frameshift
c.872_873insC; p.G292fs*25; 12:120994322-120994323	liver	other; adenoma	Insertion - Frameshift
c.872_873insC; p.G292fs*25; 12:120994322-120994323	liver	other; adenoma	Insertion - Frameshift
c.872_873insC; p.G292fs*25; 12:120994322-120994323	liver	other; adenoma	Insertion - Frameshift
c.872_873insC; p.G292fs*25; 12:120994322-120994323	liver	other; adenoma	Insertion - Frameshift
c.872_873insC; p.G292fs*25; 12:120994322-120994323	liver	other; adenoma	Insertion - Frameshift
c.872_873insC; p.G292fs*25; 12:120994322-120994323	liver	other; adenoma	Insertion - Frameshift
c.872_873insC; p.G292fs*25; 12:120994322-120994323	liver	other; adenoma	Insertion - Frameshift
c.872_873insC; p.G292fs*25; 12:120994322-120994323	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.872_873insC; p.G292fs*25; 12:120994322-120994323	liver	carcinoma; hepatocellular_carcinoma	Insertion - Frameshift
c.872_873insC; p.G292fs*25; 12:120994322-120994323	liver	other; adenoma	Insertion - Frameshift
c.872_873insC; p.G292fs*25; 12:120994322-120994323	liver	other; adenoma	Insertion - Frameshift
c.872_873insC; p.G292fs*25; 12:120994322-120994323	liver	other; adenoma	Insertion - Frameshift
c.872_873insC; p.G292fs*25; 12:120994322-120994323	liver	other; adenoma	Insertion - Frameshift
c.872_873insC; p.G292fs*25; 12:120994322-120994323	liver	other; adenoma	Insertion - Frameshift
c.872_873insC; p.G292fs*25; 12:120994322-120994323	liver	other; adenoma	Insertion - Frameshift
c.872_873insC; p.G292fs*25; 12:120994322-120994323	liver	other; adenoma	Insertion - Frameshift
c.872_873insC; p.G292fs*25; 12:120994322-120994323	liver	other; adenoma	Insertion - Frameshift
c.872_873insC; p.G292fs*25; 12:120994322-120994323	liver	other; adenoma	Insertion - Frameshift
c.872_873insC; p.G292fs*25; 12:120994322-120994323	liver	other; adenoma	Insertion - Frameshift
c.872_873insC; p.G292fs*25; 12:120994322-120994323	liver	carcinoma; hepatocellular_carcinoma	Insertion - Frameshift
c.872_873insC; p.G292fs*25; 12:120994322-120994323	liver	other; adenoma	Insertion - Frameshift
c.872_873insC; p.G292fs*25; 12:120994322-120994323	liver	other; adenoma	Insertion - Frameshift
c.119G>A; p.G40E; 12:120978887-120978887	skin	malignant_melanoma	Substitution - Missense
c.1308C>T; p.I436I; 12:120996741-120996741	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1594G>A; p.A532T; 12:120999360-120999360	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1681C>T; p.Q561*; 12:120999540-120999540	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Nonsense
c.1A>G; p.M1V; 12:120978769-120978769	liver	other; adenoma	Substitution - Missense
c.1501G>A; p.A501T; 12:120997665-120997665	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.817A>G; p.K273E; 12:120994267-120994267	breast	carcinoma	Substitution - Missense
c.931_932GC>ACCTA; p.A311>TY; 12:120994381-120994382	liver	other; adenoma	Complex - insertion inframe
c.817A>G; p.K273E; 12:120994267-120994267	liver	other; adenoma	Substitution - Missense
c.817A>G; p.K273E; 12:120994267-120994267	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.817A>G; p.K273E; 12:120994267-120994267	liver	other; adenoma	Substitution - Missense
c.546G>A; p.Q182Q; 12:120993539-120993539	skin	malignant_melanoma	Substitution - coding silent
c.632A>C; p.Q211P; 12:120993625-120993625	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.632A>C; p.Q211P; 12:120993625-120993625	liver	other; adenoma	Substitution - Missense
c.815G>A; p.R272H; 12:120994265-120994265	liver	other; adenoma	Substitution - Missense
c.815G>A; p.R272H; 12:120994265-120994265	liver	other; adenoma	Substitution - Missense
c.632A>C; p.Q211P; 12:120993625-120993625	liver	other; adenoma	Substitution - Missense
c.815G>A; p.R272H; 12:120994265-120994265	liver	other; adenoma	Substitution - Missense
c.1039C>T; p.P347S; 12:120996345-120996345	skin	malignant_melanoma	Substitution - Missense
c.1545G>C; p.T515T; 12:120999311-120999311	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1611G>A; p.T537T; 12:120999377-120999377	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.686G>A; p.R229Q; 12:120993679-120993679	breast	carcinoma	Substitution - Missense
c.686G>A; p.R229Q; 12:120993679-120993679	liver	other; adenoma	Substitution - Missense
c.51C>G; p.L17L; 12:120978819-120978819	breast	carcinoma	Substitution - coding silent
c.476G>A; p.R159Q; 12:120988982-120988982	liver	other; adenoma	Substitution - Missense
c.77T>A; p.L26Q; 12:120978845-120978845	liver	other; adenoma	Substitution - Missense
c.51C>G; p.L17L; 12:120978819-120978819	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.79A>C; p.I27L; 12:120978847-120978847	breast	carcinoma	Substitution - Missense
c.79A>C; p.I27L; 12:120978847-120978847	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.82C>T; p.Q28*; 12:120978850-120978850	skin	malignant_melanoma	Substitution - Nonsense
c.79A>C; p.I27L; 12:120978847-120978847	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.79A>C; p.I27L; 12:120978847-120978847	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.82C>T; p.Q28*; 12:120978850-120978850	liver	other; adenoma	Substitution - Nonsense
c.493T>A; p.W165R; 12:120988999-120988999	liver	other; adenoma	Substitution - Missense
c.1234A>G; p.M412V; 12:120996667-120996667	liver	carcinoma	Substitution - Missense
c.79A>C; p.I27L; 12:120978847-120978847	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.79A>C; p.I27L; 12:120978847-120978847	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.82C>T; p.Q28*; 12:120978850-120978850	liver	other; adenoma	Substitution - Nonsense
c.79A>C; p.I27L; 12:120978847-120978847	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1234A>G; p.M412V; 12:120996667-120996667	liver	carcinoma	Substitution - Missense
c.1378C>T; p.Q460*; 12:120997542-120997542	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.1168G>T; p.E390*; 12:120996601-120996601	liver	other; adenoma	Substitution - Nonsense
c.555G>A; p.L185L; 12:120993548-120993548	skin	malignant_melanoma	Substitution - coding silent
c.1169A>G; p.E390G; 12:120996602-120996602	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.857A>T; p.Y286F; 12:120994307-120994307	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.111C>T; p.L37L; 12:120978879-120978879	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.650_654delCCTAT; p.A217fs*7; 12:120993643-120993647	liver	other; adenoma	Deletion - Frameshift
c.1388A>G; p.Q463R; 12:120997552-120997552	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.495G>T; p.W165C; 12:120989001-120989001	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.495G>T; p.W165C; 12:120989001-120989001	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1773C>A; p.S591S; 12:121001069-121001069	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.380A>G; p.N127S; 12:120988886-120988886	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.257_258delTC; p.L86fs*9; 12:120979025-120979026	liver	other; adenoma	Deletion - Frameshift
c.138G>C; p.K46N; 12:120978906-120978906	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.495G>T; p.W165C; 12:120989001-120989001	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.71_82del12; p.I27_L30delIQAL; 12:120978839-120978850	liver	carcinoma; hepatocellular_carcinoma	Deletion - In frame
c.71_82del12; p.I27_L30delIQAL; 12:120978839-120978850	liver	carcinoma; hepatocellular_carcinoma	Deletion - In frame
c.71_82del12; p.I27_L30delIQAL; 12:120978839-120978850	liver	carcinoma; hepatocellular_carcinoma	Deletion - In frame
c.340C>T; p.R114C; 12:120988846-120988846	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1336G>A; p.V446M; 12:120997500-120997500	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1370C>A; p.T457N; 12:120997534-120997534	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.757G>T; p.G253W; 12:120994207-120994207	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.436delC; p.Q146fs*9; 12:120988942-120988942	liver	other; adenoma	Deletion - Frameshift
c.281C>A; p.P94H; 12:120979049-120979049	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.327-2A>G; p.?; 12:120988831-120988831	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1125delC; p.L377fs*7; 12:120996558-120996558	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.670C>G; p.P224A; 12:120993663-120993663	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1727A>C; p.Q576P; 12:120999586-120999586	bone; fibula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.93T>C; p.G31G; 12:120978861-120978861	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.865delC; p.P291fs*51; 12:120994315-120994315	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.865delC; p.P291fs*51; 12:120994315-120994315	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.865delC; p.P291fs*51; 12:120994315-120994315	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.348G>A; p.A116A; 12:120988854-120988854	skin	malignant_melanoma	Substitution - coding silent
c.980C>T; p.T327I; 12:120996286-120996286	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.348G>A; p.A116A; 12:120988854-120988854	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - coding silent
c.341G>A; p.R114H; 12:120988847-120988847	urinary_tract; bladder	carcinoma	Substitution - Missense
c.788G>A; p.R263H; 12:120994238-120994238	liver	other; adenoma	Substitution - Missense
c.341G>A; p.R114H; 12:120988847-120988847	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.341G>A; p.R114H; 12:120988847-120988847	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1140C>T; p.V380V; 12:120996573-120996573	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.617G>T; p.W206L; 12:120993610-120993610	liver	other; adenoma	Substitution - Missense
c.458C>A; p.P153H; 12:120988964-120988964	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.617G>T; p.W206L; 12:120993610-120993610	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.617G>T; p.W206L; 12:120993610-120993610	liver	other; adenoma	Substitution - Missense
c.617G>T; p.W206L; 12:120993610-120993610	liver	other; adenoma	Substitution - Missense
c.617G>T; p.W206L; 12:120993610-120993610	liver	other; adenoma	Substitution - Missense
c.617G>T; p.W206L; 12:120993610-120993610	liver	other; adenoma	Substitution - Missense
c.617G>T; p.W206L; 12:120993610-120993610	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.617G>T; p.W206L; 12:120993610-120993610	liver	other; adenoma	Substitution - Missense
c.617G>T; p.W206L; 12:120993610-120993610	liver	other; adenoma	Substitution - Missense
c.617G>T; p.W206L; 12:120993610-120993610	liver	other; adenoma	Substitution - Missense
c.422A>G; p.Q141R; 12:120988928-120988928	urinary_tract; bladder	carcinoma	Substitution - Missense
c.422A>G; p.Q141R; 12:120988928-120988928	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1708C>A; p.Q570K; 12:120999567-120999567	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.245_246ins14; p.P83fs*77; 12:120979013-120979014	liver	other; adenoma	Insertion - Frameshift
c.522G>A; p.A174A; 12:120989028-120989028	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.687A>G; p.R229R; 12:120993680-120993680	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.687A>G; p.R229R; 12:120993680-120993680	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.872_884del13; p.P291fs*47; 12:120994322-120994334	liver	other; adenoma	Deletion - Frameshift
c.142G>A; p.E48K; 12:120978910-120978910	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.142G>A; p.E48K; 12:120978910-120978910	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.956-1delG; p.?; 12:120996261-120996261	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.798_799insAAC; p.N266_W267insN; 12:120994248-120994249	liver	other; adenoma	Insertion - In frame
c.872_884del13; p.P291fs*47; 12:120994322-120994334	liver	other; adenoma	Deletion - Frameshift
c.461T>C; p.M154T; 12:120988967-120988967	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1479G>A; p.M493I; 12:120997643-120997643	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.526_526+12delCGTAAGTAATGAC; p.?; 12:120989032-120989044	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.360G>T; p.K120N; 12:120988866-120988866	breast	carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation