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	5426
Symbol	POLE
Synonymous	CRCS12\|FILS\|POLE1
Full name	polymerase (DNA directed), epsilon, catalytic subunit
Gene description	DNA polymerase II subunit A\|DNA polymerase epsilon catalytic subunit A
Cytoband	12q24.3
Gene type	protein-coding
Synonymous	MIM:174762; HGNC:HGNC:9177; Ensembl:ENSG00000177084; HPRD:07177; Vega:OTTHUMG00000168045

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1394C>T; p.A465V; 12:132673243-132673243	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6249C>T; p.L2083L; 12:132632396-132632396	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4111C>T; p.R1371*; 12:132648967-132648967	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3864C>T; p.A1288A; 12:132649447-132649447	skin	malignant_melanoma	Substitution - coding silent
c.1610A>G; p.E537G; 12:132672703-132672703	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4020C>T; p.S1340S; 12:132649058-132649058	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.1923+5G>C; p.?; 12:132668806-132668806	breast	carcinoma; HER-positive_carcinoma	Unknown
c.4953-4G>A; p.?; 12:132642401-132642401	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.366G>C; p.K122N; 12:132680011-132680011	NS	NS	Substitution - Missense
c.1888A>T; p.M630L; 12:132668846-132668846	thyroid	other; neoplasm	Substitution - Missense
c.2377C>T; p.R793C; 12:132665393-132665393	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1395C>T; p.A465A; 12:132673242-132673242	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2331G>T; p.K777N; 12:132665439-132665439	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6743C>G; p.T2248S; 12:132624909-132624909	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6734C>A; p.T2245N; 12:132624918-132624918	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4541T>C; p.V1514A; 12:132643234-132643234	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.692G>A; p.R231H; 12:132677606-132677606	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5607C>G; p.N1869K; 12:132638085-132638085	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.5915T>G; p.V1972G; 12:132634275-132634275	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5143G>A; p.E1715K; 12:132642207-132642207	urinary_tract; bladder	carcinoma	Substitution - Missense
c.73G>A; p.A25T; 12:132681269-132681269	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3459G>T; p.Q1153H; 12:132657349-132657349	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1021G>A; p.A341T; 12:132675820-132675820	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3545_3547delAGA; p.K1182delK; 12:132657171-132657173	central_nervous_system; brainstem	glioma; astrocytoma_Grade_IV	Deletion - In frame
c.2094G>T; p.L698F; 12:132668435-132668435	pancreas	carcinoma	Substitution - Missense
c.6854G>A; p.G2285D; 12:132624704-132624704	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3409C>A; p.L1137M; 12:132657399-132657399	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1717C>T; p.R573W; 12:132672292-132672292	breast	carcinoma	Substitution - Missense
c.306G>A; p.P102P; 12:132680202-132680202	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5024G>A; p.R1675H; 12:132642326-132642326	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.432C>A; p.H144Q; 12:132679643-132679643	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3105G>A; p.E1035E; 12:132659465-132659465	pancreas	carcinoma	Substitution - coding silent
c.1417T>C; p.Y473H; 12:132673220-132673220	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1489T>A; p.S497T; 12:132672824-132672824	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5124C>T; p.F1708F; 12:132642226-132642226	skin	malignant_melanoma	Substitution - coding silent
c.3851G>T; p.R1284L; 12:132649460-132649460	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2199G>C; p.K733N; 12:132667623-132667623	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.1318G>A; p.D440N; 12:132673616-132673616	breast	carcinoma	Substitution - Missense
c.6048G>A; p.R2016R; 12:132632752-132632752	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1993C>T; p.R665W; 12:132668668-132668668	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1993C>T; p.R665W; 12:132668668-132668668	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6446G>A; p.R2149H; 12:132626202-132626202	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.641A>G; p.Q214R; 12:132677657-132677657	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5065A>G; p.T1689A; 12:132642285-132642285	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1662C>T; p.S554S; 12:132672651-132672651	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1662C>T; p.S554S; 12:132672651-132672651	liver	carcinoma	Substitution - coding silent
c.1845C>T; p.S615S; 12:132668889-132668889	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5867A>G; p.E1956G; 12:132634323-132634323	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1845C>T; p.S615S; 12:132668889-132668889	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.6144C>G; p.I2048M; 12:132632501-132632501	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.387A>G; p.A129A; 12:132679990-132679990	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1376C>T; p.S459F; 12:132673261-132673261	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1376C>T; p.S459F; 12:132673261-132673261	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5998G>A; p.V2000I; 12:132634192-132634192	prostate	adenoma	Substitution - Missense
c.2683G>A; p.A895T; 12:132664027-132664027	pancreas	carcinoma	Substitution - Missense
c.3298C>T; p.Q1100*; 12:132657948-132657948	liver	carcinoma	Substitution - Nonsense
c.796C>T; p.R266*; 12:132677368-132677368	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4749A>C; p.T1583T; 12:132642709-132642709	thyroid	other; neoplasm	Substitution - coding silent
c.5596G>A; p.A1866T; 12:132638096-132638096	pancreas	carcinoma	Substitution - Missense
c.5789C>A; p.S1930*; 12:132635914-132635914	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.6628_6630delAAG; p.K2210delK; 12:132625672-132625674	oesophagus; lower_third	carcinoma; adenocarcinoma	Deletion - In frame
c.3061-1G>A; p.?; 12:132659510-132659510	skin	malignant_melanoma	Unknown
c.552C>T; p.S184S; 12:132679523-132679523	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5925A>G; p.L1975L; 12:132634265-132634265	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1156G>A; p.E386K; 12:132675468-132675468	skin	malignant_melanoma	Substitution - Missense
c.2565G>A; p.R855R; 12:132664145-132664145	breast	carcinoma	Substitution - coding silent
c.5797A>G; p.I1933V; 12:132635906-132635906	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4668G>T; p.R1556R; 12:132642880-132642880	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5900C>T; p.A1967V; 12:132634290-132634290	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5900C>T; p.A1967V; 12:132634290-132634290	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4337_4338delTG; p.V1446fs*3; 12:132643513-132643514	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4337_4338delTG; p.V1446fs*3; 12:132643513-132643514	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - Frameshift
c.4187A>G; p.N1396S; 12:132643940-132643940	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6730C>T; p.L2244F; 12:132624922-132624922	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.4187A>G; p.N1396S; 12:132643940-132643940	thyroid	other; neoplasm	Substitution - Missense
c.4582G>C; p.A1528P; 12:132642966-132642966	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4081A>C; p.S1361R; 12:132648997-132648997	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3001G>A; p.E1001K; 12:132661028-132661028	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4468T>C; p.Y1490H; 12:132643307-132643307	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.6678G>A; p.G2226G; 12:132624974-132624974	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2818A>G; p.M940V; 12:132661573-132661573	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.3635T>C; p.M1212T; 12:132649837-132649837	breast	carcinoma	Substitution - Missense
c.4666C>T; p.R1556W; 12:132642882-132642882	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6325T>C; p.C2109R; 12:132632320-132632320	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.70G>C; p.G24R; 12:132681272-132681272	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.776G>A; p.R259H; 12:132677388-132677388	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.857C>G; p.P286R; 12:132676598-132676598	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.857C>G; p.P286R; 12:132676598-132676598	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5595C>T; p.Y1865Y; 12:132638097-132638097	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.857C>G; p.P286R; 12:132676598-132676598	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.857C>G; p.P286R; 12:132676598-132676598	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.857C>G; p.P286R; 12:132676598-132676598	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.857C>G; p.P286R; 12:132676598-132676598	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.857C>G; p.P286R; 12:132676598-132676598	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.857C>G; p.P286R; 12:132676598-132676598	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.857C>G; p.P286R; 12:132676598-132676598	breast	carcinoma	Substitution - Missense
c.857C>G; p.P286R; 12:132676598-132676598	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.857C>G; p.P286R; 12:132676598-132676598	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2672C>T; p.S891F; 12:132664038-132664038	skin	malignant_melanoma	Substitution - Missense
c.857C>G; p.P286R; 12:132676598-132676598	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.857C>G; p.P286R; 12:132676598-132676598	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6543C>T; p.V2181V; 12:132625759-132625759	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.857C>G; p.P286R; 12:132676598-132676598	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.857C>G; p.P286R; 12:132676598-132676598	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5595C>T; p.Y1865Y; 12:132638097-132638097	pancreas	carcinoma	Substitution - coding silent
c.5238C>T; p.N1746N; 12:132641787-132641787	pancreas	carcinoma	Substitution - coding silent
c.718G>A; p.V240M; 12:132677580-132677580	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1585G>T; p.D529Y; 12:132672728-132672728	breast	carcinoma	Substitution - Missense
c.1A>T; p.M1L; 12:132687315-132687315	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.6101C>A; p.S2034Y; 12:132632699-132632699	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1106G>A; p.W369*; 12:132675735-132675735	skin	malignant_melanoma	Substitution - Nonsense
c.2156A>T; p.E719V; 12:132668373-132668373	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1277C>T; p.A426V; 12:132673657-132673657	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3089T>A; p.F1030Y; 12:132659481-132659481	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1277C>T; p.A426V; 12:132673657-132673657	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2156A>T; p.E719V; 12:132668373-132668373	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1657C>T; p.R553C; 12:132672656-132672656	skin	malignant_melanoma	Substitution - Missense
c.528G>C; p.K176N; 12:132679547-132679547	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2358C>T; p.G786G; 12:132665412-132665412	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5001C>T; p.F1667F; 12:132642349-132642349	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2358C>T; p.G786G; 12:132665412-132665412	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.3386A>G; p.D1129G; 12:132657422-132657422	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5607C>T; p.N1869N; 12:132638085-132638085	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.17delG; p.G6fs*48; 12:132687299-132687299	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5963A>G; p.Q1988R; 12:132634227-132634227	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5251G>T; p.A1751S; 12:132641774-132641774	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3045C>T; p.D1015D; 12:132660984-132660984	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.717C>T; p.H239H; 12:132677581-132677581	central_nervous_system; brain	glioma	Substitution - coding silent
c.4548C>A; p.D1516E; 12:132643227-132643227	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.5322G>T; p.Q1774H; 12:132641703-132641703	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.797G>A; p.R266Q; 12:132677367-132677367	pancreas	carcinoma	Substitution - Missense
c.5085T>G; p.G1695G; 12:132642265-132642265	breast	carcinoma	Substitution - coding silent
c.4548C>A; p.D1516E; 12:132643227-132643227	pancreas	carcinoma	Substitution - Missense
c.4461C>G; p.I1487M; 12:132643314-132643314	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4900C>T; p.R1634C; 12:132642558-132642558	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1107-3C>T; p.?; 12:132675520-132675520	pancreas	carcinoma	Unknown
c.6115G>T; p.G2039W; 12:132632685-132632685	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.718G>C; p.V240L; 12:132677580-132677580	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1020+1G>A; p.?; 12:132676093-132676093	liver	carcinoma	Unknown
c.1020+1G>A; p.?; 12:132676093-132676093	liver	carcinoma	Unknown
c.1231G>T; p.V411L; 12:132673703-132673703	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1231G>T; p.V411L; 12:132673703-132673703	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1231G>T; p.V411L; 12:132673703-132673703	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6574G>A; p.A2192T; 12:132625728-132625728	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.1231G>T; p.V411L; 12:132673703-132673703	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6714C>T; p.C2238C; 12:132624938-132624938	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1231G>T; p.V411L; 12:132673703-132673703	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1231G>T; p.V411L; 12:132673703-132673703	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6714C>T; p.C2238C; 12:132624938-132624938	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1231G>T; p.V411L; 12:132673703-132673703	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1231G>T; p.V411L; 12:132673703-132673703	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1231G>T; p.V411L; 12:132673703-132673703	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1100T>C; p.F367S; 12:132675741-132675741	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1231G>T; p.V411L; 12:132673703-132673703	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6496G>A; p.D2166N; 12:132626152-132626152	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2897C>T; p.A966V; 12:132661132-132661132	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4180G>A; p.V1394I; 12:132643947-132643947	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.666C>T; p.R222R; 12:132677632-132677632	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6008A>G; p.Y2003C; 12:132632792-132632792	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6053G>C; p.S2018T; 12:132632747-132632747	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.673G>A; p.D225N; 12:132677625-132677625	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.335G>T; p.C112F; 12:132680042-132680042	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6638C>T; p.A2213V; 12:132625664-132625664	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.431A>G; p.H144R; 12:132679644-132679644	liver	carcinoma	Substitution - Missense
c.4144C>T; p.R1382C; 12:132648934-132648934	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4144C>T; p.R1382C; 12:132648934-132648934	skin	malignant_melanoma	Substitution - Missense
c.4659C>T; p.F1553F; 12:132642889-132642889	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.431A>G; p.H144R; 12:132679644-132679644	liver	carcinoma	Substitution - Missense
c.4405_4410delGAGATG; p.E1469_M1470delEM; 12:132643441-132643446	liver	carcinoma	Deletion - In frame
c.1741G>C; p.A581P; 12:132672268-132672268	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.71delG; p.G24fs*30; 12:132681271-132681271	lung	carcinoma; non_small_cell_carcinoma	Deletion - Frameshift
c.71delG; p.G24fs*30; 12:132681271-132681271	lung	carcinoma; non_small_cell_carcinoma	Deletion - Frameshift
c.1175A>G; p.D392G; 12:132675449-132675449	skin	malignant_melanoma	Substitution - Missense
c.4441C>T; p.P1481S; 12:132643410-132643410	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1039T>G; p.W347G; 12:132675802-132675802	breast	carcinoma	Substitution - Missense
c.2769C>T; p.T923T; 12:132661622-132661622	thyroid	other; neoplasm	Substitution - coding silent
c.6322G>T; p.V2108L; 12:132632323-132632323	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2091delC; p.L698fs*94; 12:132668438-132668438	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1282G>A; p.A428T; 12:132673652-132673652	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1366G>C; p.A456P; 12:132673271-132673271	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3922C>T; p.R1308W; 12:132649389-132649389	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1246T>C; p.Y416H; 12:132673688-132673688	breast	carcinoma	Substitution - Missense
c.1241A>G; p.D414G; 12:132673693-132673693	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1366G>C; p.A456P; 12:132673271-132673271	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3924G>T; p.R1308R; 12:132649387-132649387	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1281C>T; p.A427A; 12:132673653-132673653	central_nervous_system; brain	glioma	Substitution - coding silent
c.3331C>T; p.R1111W; 12:132657915-132657915	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5807G>A; p.G1936E; 12:132635896-132635896	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.4124C>T; p.A1375V; 12:132648954-132648954	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2275C>T; p.R759C; 12:132667547-132667547	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1358A>G; p.Q453R; 12:132673576-132673576	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6037G>A; p.D2013N; 12:132632763-132632763	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4272G>T; p.E1424D; 12:132643855-132643855	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4601A>C; p.H1534P; 12:132642947-132642947	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4408A>T; p.M1470L; 12:132643443-132643443	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5675G>A; p.S1892N; 12:132638017-132638017	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1146C>A; p.S382R; 12:132675478-132675478	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.448C>T; p.R150*; 12:132679627-132679627	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4275C>T; p.G1425G; 12:132643852-132643852	breast	carcinoma	Substitution - coding silent
c.3108C>G; p.N1036K; 12:132659462-132659462	skin	malignant_melanoma	Substitution - Missense
c.4275C>T; p.G1425G; 12:132643852-132643852	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.103C>A; p.L35M; 12:132681239-132681239	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3912C>T; p.P1304P; 12:132649399-132649399	skin	malignant_melanoma	Substitution - coding silent
c.2142A>G; p.E714E; 12:132668387-132668387	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2865-3C>T; p.?; 12:132661167-132661167	pancreas	carcinoma; adenocarcinoma	Unknown
c.664C>T; p.R222C; 12:132677634-132677634	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.6262C>T; p.P2088S; 12:132632383-132632383	skin	malignant_melanoma	Substitution - Missense
c.5594A>G; p.Y1865C; 12:132638098-132638098	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1270C>A; p.L424I; 12:132673664-132673664	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1270C>A; p.L424I; 12:132673664-132673664	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2083T>A; p.F695I; 12:132668446-132668446	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3332G>A; p.R1111Q; 12:132657914-132657914	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5666A>G; p.Y1889C; 12:132638026-132638026	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6539C>T; p.A2180V; 12:132625763-132625763	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5666A>G; p.Y1889C; 12:132638026-132638026	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.856C>T; p.P286S; 12:132676599-132676599	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4162C>A; p.L1388I; 12:132643965-132643965	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5060C>T; p.S1687F; 12:132642290-132642290	skin	malignant_melanoma	Substitution - Missense
c.1596C>T; p.H532H; 12:132672717-132672717	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6454G>A; p.V2152M; 12:132626194-132626194	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2086C>T; p.P696S; 12:132668443-132668443	skin	malignant_melanoma	Substitution - Missense
c.1186delG; p.E396fs*16; 12:132675438-132675438	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2155G>A; p.E719K; 12:132668374-132668374	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2041A>C; p.S681R; 12:132668488-132668488	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5336C>T; p.P1779L; 12:132641689-132641689	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5606A>G; p.N1869S; 12:132638086-132638086	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2712C>A; p.G904G; 12:132661679-132661679	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4402C>T; p.L1468L; 12:132643449-132643449	skin; arm	malignant_melanoma	Substitution - coding silent
c.3024G>T; p.K1008N; 12:132661005-132661005	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5721C>A; p.F1907L; 12:132635982-132635982	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.403C>T; p.P135S; 12:132679974-132679974	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4237G>A; p.E1413K; 12:132643890-132643890	skin	malignant_melanoma	Substitution - Missense
c.2271C>T; p.T757T; 12:132667551-132667551	pancreas	carcinoma	Substitution - coding silent
c.2271C>T; p.T757T; 12:132667551-132667551	pancreas	carcinoma	Substitution - coding silent
c.836C>A; p.T279N; 12:132676619-132676619	breast	carcinoma	Substitution - Missense
c.2271C>T; p.T757T; 12:132667551-132667551	pancreas	carcinoma	Substitution - coding silent
c.1231G>C; p.V411L; 12:132673703-132673703	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1104C>T; p.D368D; 12:132675737-132675737	breast	carcinoma	Substitution - coding silent
c.2551G>A; p.E851K; 12:132664380-132664380	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3929G>T; p.G1310V; 12:132649382-132649382	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.5277C>T; p.D1759D; 12:132641748-132641748	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3561C>T; p.F1187F; 12:132657157-132657157	skin	malignant_melanoma	Substitution - coding silent
c.2174-1G>C; p.?; 12:132667649-132667649	breast	carcinoma; HER-positive_carcinoma	Unknown
c.6437A>C; p.D2146A; 12:132626211-132626211	breast	carcinoma	Substitution - Missense
c.3561C>T; p.F1187F; 12:132657157-132657157	skin	malignant_melanoma	Substitution - coding silent
c.2887G>C; p.G963R; 12:132661142-132661142	skin	malignant_melanoma	Substitution - Missense
c.3264_3275+13del25; p.?; 12:132659282-132659306	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.305C>T; p.P102L; 12:132680203-132680203	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2182C>T; p.R728W; 12:132667640-132667640	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5476C>T; p.R1826W; 12:132639201-132639201	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.247G>C; p.D83H; 12:132680645-132680645	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5476C>T; p.R1826W; 12:132639201-132639201	breast	carcinoma	Substitution - Missense
c.2578G>A; p.D860N; 12:132664132-132664132	thyroid	other; neoplasm	Substitution - Missense
c.2764G>A; p.V922I; 12:132661627-132661627	liver	carcinoma	Substitution - Missense
c.3546G>A; p.K1182K; 12:132657172-132657172	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1856G>T; p.C619F; 12:132668878-132668878	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.5143G>C; p.E1715Q; 12:132642207-132642207	thyroid	carcinoma	Substitution - Missense
c.2764G>A; p.V922I; 12:132661627-132661627	liver	carcinoma	Substitution - Missense
c.3895G>A; p.E1299K; 12:132649416-132649416	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5337G>A; p.P1779P; 12:132641688-132641688	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2949G>C; p.K983N; 12:132661080-132661080	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3420C>T; p.A1140A; 12:132657388-132657388	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.101G>T; p.R34L; 12:132681241-132681241	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6042G>T; p.G2014G; 12:132632758-132632758	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.5878G>C; p.D1960H; 12:132634312-132634312	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2461C>T; p.R821C; 12:132665309-132665309	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6540G>A; p.A2180A; 12:132625762-132625762	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1924C>G; p.P642A; 12:132668737-132668737	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.208G>A; p.E70K; 12:132680684-132680684	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.5972C>T; p.S1991F; 12:132634218-132634218	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5458C>A; p.H1820N; 12:132639219-132639219	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.1264C>A; p.H422N; 12:132673670-132673670	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3311C>T; p.T1104M; 12:132657935-132657935	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3900T>G; p.G1300G; 12:132649411-132649411	pancreas	carcinoma	Substitution - coding silent
c.4612C>T; p.L1538L; 12:132642936-132642936	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4191_4192delCT; p.Y1398fs*1; 12:132643935-132643936	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4730A>C; p.E1577A; 12:132642728-132642728	pancreas	carcinoma	Substitution - Missense
c.4612C>T; p.L1538L; 12:132642936-132642936	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3493G>T; p.D1165Y; 12:132657225-132657225	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.6789G>A; p.Q2263Q; 12:132624769-132624769	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - coding silent
c.3493G>T; p.D1165Y; 12:132657225-132657225	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.6789G>A; p.Q2263Q; 12:132624769-132624769	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	Substitution - coding silent
c.690C>T; p.I230I; 12:132677608-132677608	skin	malignant_melanoma	Substitution - coding silent
c.4261C>T; p.P1421S; 12:132643866-132643866	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3659T>C; p.L1220P; 12:132649813-132649813	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.890C>T; p.S297F; 12:132676565-132676565	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.890C>T; p.S297F; 12:132676565-132676565	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5712A>G; p.T1904T; 12:132635991-132635991	skin	malignant_melanoma	Substitution - coding silent
c.4555C>T; p.R1519C; 12:132642993-132642993	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4555C>T; p.R1519C; 12:132642993-132642993	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4555C>T; p.R1519C; 12:132642993-132642993	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4102G>A; p.V1368M; 12:132648976-132648976	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2114G>C; p.R705P; 12:132668415-132668415	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2421C>T; p.A807A; 12:132665349-132665349	skin	malignant_melanoma	Substitution - coding silent
c.1516A>G; p.M506V; 12:132672797-132672797	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.4680C>T; p.D1560D; 12:132642868-132642868	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.5239G>A; p.D1747N; 12:132641786-132641786	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3269C>T; p.T1090M; 12:132659301-132659301	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6514G>A; p.D2172N; 12:132626134-132626134	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4665T>G; p.V1555V; 12:132642883-132642883	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.933G>C; p.E311D; 12:132676181-132676181	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4139C>T; p.S1380L; 12:132648939-132648939	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4326C>T; p.G1442G; 12:132643525-132643525	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6597C>T; p.I2199I; 12:132625705-132625705	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4639C>T; p.P1547S; 12:132642909-132642909	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6597C>T; p.I2199I; 12:132625705-132625705	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.4090C>T; p.R1364C; 12:132648988-132648988	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1420G>A; p.V474I; 12:132673217-132673217	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5193T>A; p.L1731L; 12:132641832-132641832	skin	malignant_melanoma	Substitution - coding silent
c.331-2A>G; p.?; 12:132680048-132680048	stomach	carcinoma; adenocarcinoma	Unknown
c.2294G>T; p.R765L; 12:132667528-132667528	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1676G>C; p.R559P; 12:132672637-132672637	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.3862G>A; p.A1288T; 12:132649449-132649449	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5842G>T; p.D1948Y; 12:132634348-132634348	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6835C>T; p.Q2279*; 12:132624723-132624723	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4848G>C; p.K1616N; 12:132642610-132642610	pancreas	carcinoma	Substitution - Missense
c.4371C>G; p.G1457G; 12:132643480-132643480	breast	carcinoma	Substitution - coding silent
c.4401C>T; p.H1467H; 12:132643450-132643450	skin; arm	malignant_melanoma	Substitution - coding silent
c.6165C>T; p.V2055V; 12:132632480-132632480	skin	malignant_melanoma	Substitution - coding silent
c.3491C>T; p.P1164L; 12:132657227-132657227	skin	malignant_melanoma	Substitution - Missense
c.2320-2A>G; p.?; 12:132665452-132665452	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.4425G>C; p.Q1475H; 12:132643426-132643426	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4182C>T; p.V1394V; 12:132643945-132643945	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.4291-4C>T; p.?; 12:132643564-132643564	skin; head_neck	malignant_melanoma; superficial_spreading	Unknown
c.3109C>T; p.R1037C; 12:132659461-132659461	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1331T>A; p.M444K; 12:132673603-132673603	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4618A>C; p.K1540Q; 12:132642930-132642930	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1942G>A; p.E648K; 12:132668719-132668719	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1942G>A; p.E648K; 12:132668719-132668719	skin	malignant_melanoma	Substitution - Missense
c.507G>C; p.E169D; 12:132679568-132679568	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.3768G>A; p.G1256G; 12:132649704-132649704	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1795-3C>A; p.?; 12:132668942-132668942	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Unknown
c.4556G>A; p.R1519H; 12:132642992-132642992	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.507G>C; p.E169D; 12:132679568-132679568	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6775C>T; p.R2259W; 12:132624783-132624783	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4901G>A; p.R1634H; 12:132642557-132642557	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.557C>T; p.A186V; 12:132679518-132679518	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1252C>T; p.P418S; 12:132673682-132673682	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6166G>A; p.A2056T; 12:132632479-132632479	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6166G>A; p.A2056T; 12:132632479-132632479	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2445C>A; p.F815L; 12:132665325-132665325	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4181T>C; p.V1394A; 12:132643946-132643946	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4181T>C; p.V1394A; 12:132643946-132643946	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5267T>A; p.I1756N; 12:132641758-132641758	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.4181T>C; p.V1394A; 12:132643946-132643946	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4181T>C; p.V1394A; 12:132643946-132643946	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4530A>G; p.A1510A; 12:132643245-132643245	thyroid	other; neoplasm	Substitution - coding silent
c.4931C>T; p.S1644L; 12:132642527-132642527	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1270C>G; p.L424V; 12:132673664-132673664	breast	carcinoma	Substitution - Missense
c.4645C>T; p.P1549S; 12:132642903-132642903	skin	malignant_melanoma	Substitution - Missense
c.2170G>A; p.A724T; 12:132668359-132668359	thyroid	other; neoplasm	Substitution - Missense
c.2181C>T; p.C727C; 12:132667641-132667641	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3155C>T; p.T1052M; 12:132659415-132659415	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6334C>A; p.L2112M; 12:132626314-132626314	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2983A>G; p.K995E; 12:132661046-132661046	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6433C>T; p.R2145*; 12:132626215-132626215	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.100C>T; p.R34C; 12:132681242-132681242	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3703C>A; p.L1235I; 12:132649769-132649769	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3703C>A; p.L1235I; 12:132649769-132649769	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.857C>A; p.P286H; 12:132676598-132676598	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3703C>A; p.L1235I; 12:132649769-132649769	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4040T>C; p.L1347P; 12:132649038-132649038	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2743G>A; p.E915K; 12:132661648-132661648	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.4653C>T; p.H1551H; 12:132642895-132642895	liver	carcinoma	Substitution - coding silent
c.4653C>T; p.H1551H; 12:132642895-132642895	liver	carcinoma	Substitution - coding silent
c.396G>T; p.E132D; 12:132679981-132679981	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.72C>T; p.G24G; 12:132681270-132681270	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3138C>T; p.Y1046Y; 12:132659432-132659432	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4801C>T; p.P1601S; 12:132642657-132642657	skin; arm	malignant_melanoma	Substitution - Missense
c.2091_2092insC; p.F699fs*11; 12:132668437-132668438	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.558G>A; p.A186A; 12:132679517-132679517	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.4667G>T; p.R1556L; 12:132642881-132642881	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.286-4A>T; p.?; 12:132680226-132680226	liver	carcinoma	Unknown
c.1718G>T; p.R573L; 12:132672291-132672291	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3470C>A; p.P1157Q; 12:132657248-132657248	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.286-4A>T; p.?; 12:132680226-132680226	liver	carcinoma	Unknown
c.4795_4796insG; p.E1599fs*17; 12:132642662-132642663	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.3989C>T; p.P1330L; 12:132649322-132649322	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.1617C>T; p.Y539Y; 12:132672696-132672696	skin	malignant_melanoma	Substitution - coding silent
c.3056G>T; p.S1019I; 12:132660973-132660973	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3222G>C; p.L1074L; 12:132659348-132659348	breast	carcinoma	Substitution - coding silent
c.4618A>G; p.K1540E; 12:132642930-132642930	breast	carcinoma	Substitution - Missense
c.1882G>A; p.G628R; 12:132668852-132668852	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2284C>T; p.R762W; 12:132667538-132667538	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4424A>C; p.Q1475P; 12:132643427-132643427	liver	carcinoma	Substitution - Missense
c.4424A>C; p.Q1475P; 12:132643427-132643427	liver	carcinoma	Substitution - Missense
c.1418A>G; p.Y473C; 12:132673219-132673219	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6718G>A; p.G2240R; 12:132624934-132624934	NS	malignant_melanoma	Substitution - Missense
c.6145A>G; p.T2049A; 12:132632500-132632500	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3777C>T; p.P1259P; 12:132649695-132649695	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1580T>C; p.L527P; 12:132672733-132672733	liver	carcinoma	Substitution - Missense
c.3312G>A; p.T1104T; 12:132657934-132657934	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1580T>C; p.L527P; 12:132672733-132672733	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.207C>T; p.T69T; 12:132680685-132680685	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6558C>T; p.L2186L; 12:132625744-132625744	breast	carcinoma	Substitution - coding silent
c.3670G>A; p.A1224T; 12:132649802-132649802	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5023C>T; p.R1675C; 12:132642327-132642327	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4883G>C; p.G1628A; 12:132642575-132642575	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1819C>T; p.L607F; 12:132668915-132668915	skin	malignant_melanoma	Substitution - Missense
c.3133G>C; p.D1045H; 12:132659437-132659437	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1924-4C>G; p.?; 12:132668741-132668741	pancreas	carcinoma	Unknown
c.6120G>C; p.A2040A; 12:132632680-132632680	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4533C>T; p.S1511S; 12:132643242-132643242	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4682T>C; p.L1561P; 12:132642866-132642866	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2502C>T; p.I834I; 12:132664429-132664429	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4533C>T; p.S1511S; 12:132643242-132643242	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3418G>A; p.A1140T; 12:132657390-132657390	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1371G>A; p.T457T; 12:132673266-132673266	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.4393C>G; p.L1465V; 12:132643458-132643458	bone; pelvis	chondrosarcoma	Substitution - Missense
c.3762C>T; p.I1254I; 12:132649710-132649710	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2865-5_2865-4delTT; p.?; 12:132661168-132661169	eye; uveal_tract	malignant_melanoma	Unknown
c.2531C>T; p.T844I; 12:132664400-132664400	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3090C>T; p.F1030F; 12:132659480-132659480	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6556C>T; p.L2186F; 12:132625746-132625746	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2262C>T; p.Y754Y; 12:132667560-132667560	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5074C>T; p.P1692S; 12:132642276-132642276	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.312C>A; p.F104L; 12:132680196-132680196	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3808G>T; p.V1270F; 12:132649503-132649503	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3808G>T; p.V1270F; 12:132649503-132649503	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3808G>T; p.V1270F; 12:132649503-132649503	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3808G>T; p.V1270F; 12:132649503-132649503	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3808G>T; p.V1270F; 12:132649503-132649503	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5747G>T; p.W1916L; 12:132635956-132635956	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5635C>T; p.R1879C; 12:132638057-132638057	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5635C>T; p.R1879C; 12:132638057-132638057	central_nervous_system; brain	glioma	Substitution - Missense
c.6727G>A; p.A2243T; 12:132624925-132624925	breast	carcinoma	Substitution - Missense
c.4165C>T; p.P1389S; 12:132643962-132643962	skin	malignant_melanoma	Substitution - Missense
c.124G>A; p.D42N; 12:132681218-132681218	skin	malignant_melanoma	Substitution - Missense
c.3615G>A; p.P1205P; 12:132649857-132649857	urinary_tract; bladder	carcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation