Entrez Gene

Basic Information
Gene ID	3172
Name	HNF4A

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.989C>G; p.S330W; 20:44424114-44424114	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1309C>T; p.P437S; 20:44429549-44429549	skin	malignant_melanoma	Substitution - Missense
c.375G>A; p.M125I; 20:44407465-44407465	liver	carcinoma	Substitution - Missense
c.192G>A; p.G64G; 20:44406134-44406134	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.989C>G; p.S330W; 20:44424114-44424114	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.189C>T; p.C63C; 20:44406131-44406131	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.234C>T; p.D78D; 20:44406176-44406176	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1300C>T; p.Q434*; 20:44429540-44429540	thyroid	other; neoplasm	Substitution - Nonsense
c.1178T>C; p.L393P; 20:44428383-44428383	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.493-1G>A; p.?; 20:44414506-44414506	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1178T>C; p.L393P; 20:44428383-44428383	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.601T>A; p.W201R; 20:44414615-44414615	thyroid	carcinoma	Substitution - Missense
c.991C>G; p.R331G; 20:44424116-44424116	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.191G>T; p.G64V; 20:44406133-44406133	lung; left_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.148G>A; p.A50T; 20:44406090-44406090	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.281A>G; p.Y94C; 20:44406223-44406223	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.303G>T; p.Q101H; 20:44407393-44407393	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.915A>C; p.P305P; 20:44424040-44424040	skin	malignant_melanoma	Substitution - coding silent
c.104C>A; p.T35K; 20:44401476-44401476	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.915A>C; p.P305P; 20:44424040-44424040	skin	malignant_melanoma	Substitution - coding silent
c.882C>A; p.F294L; 20:44419866-44419866	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1223T>C; p.M408T; 20:44428428-44428428	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1223T>C; p.M408T; 20:44428428-44428428	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1223T>C; p.M408T; 20:44428428-44428428	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1223T>C; p.M408T; 20:44428428-44428428	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.882C>A; p.F294L; 20:44419866-44419866	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1223T>C; p.M408T; 20:44428428-44428428	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1223T>C; p.M408T; 20:44428428-44428428	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1223T>C; p.M408T; 20:44428428-44428428	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1223T>C; p.M408T; 20:44428428-44428428	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.473C>T; p.A158V; 20:44413781-44413781	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.473C>T; p.A158V; 20:44413781-44413781	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1066C>T; p.Q356*; 20:44424191-44424191	skin	malignant_melanoma	Substitution - Nonsense
c.1273G>A; p.G425R; 20:44428478-44428478	skin	malignant_melanoma	Substitution - Missense
c.1243G>A; p.G415R; 20:44428448-44428448	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1243G>A; p.G415R; 20:44428448-44428448	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.129A>G; p.S43S; 20:44406071-44406071	skin	malignant_melanoma	Substitution - coding silent
c.177G>C; p.L59L; 20:44406119-44406119	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.203C>T; p.T68M; 20:44406145-44406145	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1138A>G; p.S380G; 20:44428343-44428343	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.843C>T; p.I281I; 20:44419827-44419827	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.520G>A; p.G174S; 20:44414534-44414534	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.204G>A; p.T68T; 20:44406146-44406146	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1159C>T; p.H387Y; 20:44428364-44428364	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1357G>A; p.V453I; 20:44429597-44429597	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.100T>A; p.L34M; 20:44401472-44401472	skin	malignant_melanoma	Substitution - Missense
c.403G>A; p.D135N; 20:44413711-44413711	skin	malignant_melanoma	Substitution - Missense
c.273C>A; p.N91K; 20:44406215-44406215	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.333G>T; p.Q111H; 20:44407423-44407423	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.333G>T; p.Q111H; 20:44407423-44407423	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.333G>T; p.Q111H; 20:44407423-44407423	large_intestine; colon	carcinoma	Substitution - Missense
c.333G>T; p.Q111H; 20:44407423-44407423	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.637C>A; p.L213M; 20:44414651-44414651	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.483G>C; p.L161L; 20:44413791-44413791	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1022_1024delTGC; p.L341delL; 20:44424147-44424149	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Deletion - In frame
c.977G>A; p.R326H; 20:44424102-44424102	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1022_1024delTGC; p.L341delL; 20:44424147-44424149	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Deletion - In frame
c.1199C>T; p.T400I; 20:44428404-44428404	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1297C>A; p.P433T; 20:44429537-44429537	thyroid	other; neoplasm	Substitution - Missense
c.1215C>A; p.A405A; 20:44428420-44428420	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.274C>A; p.H92N; 20:44406216-44406216	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.940C>T; p.Q314*; 20:44424065-44424065	skin	malignant_melanoma	Substitution - Nonsense
c.408G>A; p.R136R; 20:44413716-44413716	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1182G>A; p.M394I; 20:44428387-44428387	skin	malignant_melanoma	Substitution - Missense
c.1182G>A; p.M394I; 20:44428387-44428387	skin	malignant_melanoma	Substitution - Missense
c.909C>T; p.S303S; 20:44424034-44424034	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.143T>G; p.L48R; 20:44406085-44406085	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.160C>A; p.L54M; 20:44406102-44406102	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.444C>T; p.S148S; 20:44413752-44413752	skin	malignant_melanoma	Substitution - coding silent
c.1057G>A; p.E353K; 20:44424182-44424182	skin	malignant_melanoma	Substitution - Missense
c.966C>T; p.Y322Y; 20:44424091-44424091	breast	carcinoma	Substitution - coding silent
c.1022T>C; p.L341P; 20:44424147-44424147	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.869A>C; p.K290T; 20:44419853-44419853	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.280T>C; p.Y94H; 20:44406222-44406222	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.172G>A; p.A58T; 20:44406114-44406114	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1424A>G; p.*475W; 20:44429664-44429664	oesophagus	carcinoma; adenocarcinoma	Nonstop extension
c.523G>A; p.D175N; 20:44414537-44414537	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1297C>T; p.P433S; 20:44429537-44429537	skin	malignant_melanoma	Substitution - Missense
c.1083C>T; p.F361F; 20:44424208-44424208	skin	malignant_melanoma	Substitution - coding silent
c.1283-2A>T; p.?; 20:44429521-44429521	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.25G>A; p.D9N; 20:44401397-44401397	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.387C>T; p.A129A; 20:44413695-44413695	pancreas	carcinoma	Substitution - coding silent
c.56T>C; p.L19P; 20:44401428-44401428	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.529C>T; p.R177W; 20:44414543-44414543	skin	malignant_melanoma	Substitution - Missense
c.387C>T; p.A129A; 20:44413695-44413695	pancreas	carcinoma	Substitution - coding silent
c.387C>T; p.A129A; 20:44413695-44413695	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.685_686delCT; p.L229fs*19; 20:44418461-44418462	liver	carcinoma	Deletion - Frameshift
c.1204G>C; p.V402L; 20:44428409-44428409	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.181G>C; p.A61P; 20:44406123-44406123	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1179G>A; p.L393L; 20:44428384-44428384	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1204G>C; p.V402L; 20:44428409-44428409	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1414G>A; p.E472K; 20:44429654-44429654	skin	malignant_melanoma	Substitution - Missense
c.1414G>A; p.E472K; 20:44429654-44429654	skin	malignant_melanoma	Substitution - Missense
c.345C>G; p.C115W; 20:44407435-44407435	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1126G>A; p.G376R; 20:44424251-44424251	skin	malignant_melanoma	Substitution - Missense
c.388G>A; p.V130I; 20:44413696-44413696	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.418C>T; p.R140*; 20:44413726-44413726	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1265G>A; p.R422Q; 20:44428470-44428470	skin	malignant_melanoma	Substitution - Missense
c.1251G>A; p.M417I; 20:44428456-44428456	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.844G>A; p.D282N; 20:44419828-44419828	skin	malignant_melanoma	Substitution - Missense
c.262G>T; p.V88L; 20:44406204-44406204	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.147C>T; p.N49N; 20:44406089-44406089	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.912T>A; p.D304E; 20:44424037-44424037	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2T>C; p.M1T; 20:44401374-44401374	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1355C>A; p.A452D; 20:44429595-44429595	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.632T>C; p.L211P; 20:44414646-44414646	skin; mucosal	malignant_melanoma	Substitution - Missense
c.173_174CC>TT; p.A58V; 20:44406115-44406116	skin	malignant_melanoma	Substitution - Missense
c.939C>T; p.S313S; 20:44424064-44424064	skin	malignant_melanoma	Substitution - coding silent
c.580C>T; p.Q194*; 20:44414594-44414594	pancreas	carcinoma	Substitution - Nonsense
c.1295C>T; p.T432I; 20:44429535-44429535	skin	malignant_melanoma	Substitution - Missense
c.253C>T; p.R85W; 20:44406195-44406195	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1086C>T; p.G362G; 20:44424211-44424211	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.337C>G; p.R113G; 20:44407427-44407427	breast	carcinoma	Substitution - Missense
c.236G>C; p.G79A; 20:44406178-44406178	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.192_193GG>AA; p.D65N; 20:44406134-44406135	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.102G>A; p.L34L; 20:44401474-44401474	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.368C>T; p.A123V; 20:44407458-44407458	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.677A>T; p.E226V; 20:44418453-44418453	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.116-2A>G; p.?; 20:44406056-44406056	pancreas	carcinoid-endocrine_tumour	Unknown
c.252C>T; p.F84F; 20:44406194-44406194	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1139G>A; p.S380N; 20:44428344-44428344	skin	malignant_melanoma	Substitution - Missense
c.788G>A; p.R263Q; 20:44419772-44419772	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1244G>A; p.G415E; 20:44428449-44428449	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.989C>T; p.S330L; 20:44424114-44424114	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1244G>A; p.G415E; 20:44428449-44428449	skin	malignant_melanoma	Substitution - Missense
c.73A>T; p.T25S; 20:44401445-44401445	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1274G>A; p.G425E; 20:44428479-44428479	skin; extremity	malignant_melanoma	Substitution - Missense
c.152C>G; p.P51R; 20:44406094-44406094	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.487C>G; p.R163G; 20:44413795-44413795	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.146A>T; p.N49I; 20:44406088-44406088	lung	carcinoma	Substitution - Missense
c.249C>T; p.F83F; 20:44406191-44406191	skin	malignant_melanoma	Substitution - coding silent
c.388G>C; p.V130L; 20:44413696-44413696	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.146A>T; p.N49I; 20:44406088-44406088	lung	carcinoma	Substitution - Missense
c.575A>C; p.K192T; 20:44414589-44414589	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.319G>T; p.D107Y; 20:44407409-44407409	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.216C>T; p.Y72Y; 20:44406158-44406158	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.80A>C; p.E27A; 20:44401452-44401452	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1264C>T; p.R422*; 20:44428469-44428469	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.598G>A; p.E200K; 20:44414612-44414612	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1272G>A; p.R424R; 20:44428477-44428477	skin	malignant_melanoma	Substitution - coding silent
c.1375C>A; p.P459T; 20:44429615-44429615	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.800G>A; p.R267H; 20:44419784-44419784	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.573G>A; p.M191I; 20:44414587-44414587	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.454A>T; p.I152F; 20:44413762-44413762	breast	carcinoma	Substitution - Missense
c.382G>A; p.E128K; 20:44407472-44407472	skin	malignant_melanoma	Substitution - Missense
c.492G>T; p.Q164H; 20:44413800-44413800	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1142A>T; p.D381V; 20:44428347-44428347	thyroid	carcinoma	Substitution - Missense
c.1422C>A; p.I474I; 20:44429662-44429662	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.768G>A; p.P256P; 20:44419752-44419752	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.961G>A; p.D321N; 20:44424086-44424086	skin	malignant_melanoma	Substitution - Missense
c.1302G>A; p.Q434Q; 20:44429542-44429542	skin	malignant_melanoma	Substitution - coding silent
c.1242C>T; p.N414N; 20:44428447-44428447	skin	malignant_melanoma	Substitution - coding silent
c.461C>T; p.A154V; 20:44413769-44413769	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1141G>A; p.D381N; 20:44428346-44428346	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1325G>A; p.G442E; 20:44429565-44429565	skin	malignant_melanoma	Substitution - Missense
c.595G>A; p.V199I; 20:44414609-44414609	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1252T>A; p.C418S; 20:44428457-44428457	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1252T>A; p.C418S; 20:44428457-44428457	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1209C>T; p.I403I; 20:44428414-44428414	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1225C>T; p.P409S; 20:44428430-44428430	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.533C>T; p.A178V; 20:44414547-44414547	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.692G>A; p.G231E; 20:44418468-44418468	skin	malignant_melanoma	Substitution - Missense
c.490C>T; p.Q164*; 20:44413798-44413798	liver	carcinoma	Substitution - Nonsense
c.372C>T; p.G124G; 20:44407462-44407462	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.173C>T; p.A58V; 20:44406115-44406115	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.724G>A; p.V242M; 20:44418500-44418500	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1314A>T; p.P438P; 20:44429554-44429554	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.435G>A; p.E145E; 20:44413743-44413743	skin	malignant_melanoma	Substitution - coding silent
c.378G>A; p.K126K; 20:44407468-44407468	breast	carcinoma	Substitution - coding silent
c.1315G>T; p.G439C; 20:44429555-44429555	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1234C>T; p.L412F; 20:44428439-44428439	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.910G>A; p.D304N; 20:44424035-44424035	skin	malignant_melanoma	Substitution - Missense
c.1234C>T; p.L412F; 20:44428439-44428439	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense

The somatic mutations from COSMIC database