Entrez Gene

Basic Information
Gene ID	23136
Name	EPB41L3
Synonymous	erythrocyte membrane protein band 4.1-like 3;EPB41L3;erythrocyte membrane protein band 4.1-like 3
Definition	band 4.1-like protein 3\|differentially expressed in adenocarcinoma of the lung protein 1
Position	18p11.32
Gene Type	protein-coding
Mutation summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.12.

The copy number variations for various cancers

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1123C>T; p.R375C; 18:5424302-5424302	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.150C>T; p.A50A; 18:5489034-5489034	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1123C>T; p.R375C; 18:5424302-5424302	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.606-6T>C; p.?; 18:5434127-5434127	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1112G>A; p.R371Q; 18:5424313-5424313	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1310G>A; p.R437H; 18:5423407-5423407	central_nervous_system; brain	glioma	Substitution - Missense
c.1493G>A; p.R498Q; 18:5419724-5419724	thyroid	other; neoplasm	Substitution - Missense
c.1687A>T; p.R563W; 18:5416198-5416198	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1112G>A; p.R371Q; 18:5424313-5424313	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.307A>G; p.I103V; 18:5478315-5478315	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2170A>T; p.T724S; 18:5406956-5406956	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1956C>T; p.Y652Y; 18:5415929-5415929	prostate	adenoma	Substitution - coding silent
c.65C>T; p.A22V; 18:5489119-5489119	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.65C>T; p.A22V; 18:5489119-5489119	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.175C>T; p.R59W; 18:5489009-5489009	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1847T>A; p.L616H; 18:5416038-5416038	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.175C>T; p.R59W; 18:5489009-5489009	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2302G>A; p.A768T; 18:5406824-5406824	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.175C>T; p.R59W; 18:5489009-5489009	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3213A>C; p.K1071N; 18:5394734-5394734	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3213A>C; p.K1071N; 18:5394734-5394734	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2026G>A; p.A676T; 18:5415859-5415859	large_intestine; colon	adenoma	Substitution - Missense
c.737G>A; p.G246E; 18:5433990-5433990	skin	malignant_melanoma	Substitution - Missense
c.977G>A; p.R326Q; 18:5428401-5428401	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2955C>A; p.I985I; 18:5396219-5396219	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2955C>A; p.I985I; 18:5396219-5396219	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.657C>T; p.P219P; 18:5434070-5434070	skin	malignant_melanoma	Substitution - coding silent
c.2759C>T; p.A920V; 18:5397140-5397140	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.583C>A; p.Q195K; 18:5438057-5438057	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2250C>A; p.A750A; 18:5406876-5406876	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2977G>A; p.D993N; 18:5395704-5395704	prostate	adenoma	Substitution - Missense
c.1390T>G; p.L464V; 18:5419827-5419827	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2266G>A; p.E756K; 18:5406860-5406860	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.196G>A; p.E66K; 18:5478426-5478426	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2266G>A; p.E756K; 18:5406860-5406860	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.196G>A; p.E66K; 18:5478426-5478426	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2266G>A; p.E756K; 18:5406860-5406860	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6G>C; p.T2T; 18:5489178-5489178	thyroid	other; neoplasm	Substitution - coding silent
c.742G>A; p.D248N; 18:5433985-5433985	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1484C>T; p.S495L; 18:5419733-5419733	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1484C>T; p.S495L; 18:5419733-5419733	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2454T>G; p.T818T; 18:5398039-5398039	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1053C>A; p.I351I; 18:5428325-5428325	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1441G>A; p.E481K; 18:5419776-5419776	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2885C>T; p.S962L; 18:5396289-5396289	skin; ear	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2417G>A; p.R806Q; 18:5398076-5398076	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.571C>G; p.P191A; 18:5438069-5438069	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2989G>A; p.D997N; 18:5395692-5395692	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3048C>A; p.T1016T; 18:5395633-5395633	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; large_cell	Substitution - coding silent
c.1954T>C; p.Y652H; 18:5415931-5415931	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2389G>A; p.E797K; 18:5398104-5398104	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.288C>A; p.L96L; 18:5478334-5478334	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3086G>A; p.G1029D; 18:5395134-5395134	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2310G>A; p.Q770Q; 18:5406816-5406816	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1339+10G>A; p.?; 18:5423368-5423368	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.2524C>T; p.H842Y; 18:5397375-5397375	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1003C>A; p.P335T; 18:5428375-5428375	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1551C>T; p.S517S; 18:5416334-5416334	skin	malignant_melanoma	Substitution - coding silent
c.2350A>T; p.T784S; 18:5398143-5398143	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2112T>C; p.T704T; 18:5410575-5410575	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.707A>T; p.E236V; 18:5434020-5434020	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2427A>T; p.T809T; 18:5398066-5398066	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1438G>A; p.E480K; 18:5419779-5419779	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2365_2366GG>TT; p.G789L; 18:5398127-5398128	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1640C>A; p.A547D; 18:5416245-5416245	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.531T>C; p.S177S; 18:5438109-5438109	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1207G>A; p.G403S; 18:5423510-5423510	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.982C>T; p.R328*; 18:5428396-5428396	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.1890G>A; p.P630P; 18:5415995-5415995	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.982C>T; p.R328*; 18:5428396-5428396	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.982C>T; p.R328*; 18:5428396-5428396	liver	carcinoma	Substitution - Nonsense
c.443A>C; p.K148T; 18:5445183-5445183	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1294C>T; p.R432C; 18:5423423-5423423	breast	carcinoma	Substitution - Missense
c.2859G>A; p.T953T; 18:5396315-5396315	skin	malignant_melanoma	Substitution - coding silent
c.1294C>T; p.R432C; 18:5423423-5423423	liver	carcinoma	Substitution - Missense
c.1294C>T; p.R432C; 18:5423423-5423423	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; NK-T_cell_lymphoma	Substitution - Missense
c.982C>T; p.R328*; 18:5428396-5428396	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1294C>T; p.R432C; 18:5423423-5423423	liver	carcinoma	Substitution - Missense
c.2458C>G; p.Q820E; 18:5398035-5398035	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1294C>T; p.R432C; 18:5423423-5423423	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.982C>T; p.R328*; 18:5428396-5428396	liver	carcinoma	Substitution - Nonsense
c.982C>T; p.R328*; 18:5428396-5428396	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1863G>A; p.L621L; 18:5416022-5416022	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.833C>T; p.T278M; 18:5433548-5433548	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2103G>A; p.G701G; 18:5410584-5410584	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1065+1G>A; p.?; 18:5428312-5428312	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Unknown
c.2756C>T; p.T919I; 18:5397143-5397143	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.832A>G; p.T278A; 18:5433549-5433549	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.191A>C; p.D64A; 18:5478431-5478431	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1828A>T; p.N610Y; 18:5416057-5416057	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2894G>A; p.G965E; 18:5396280-5396280	pancreas	carcinoma	Substitution - Missense
c.940G>A; p.G314R; 18:5428438-5428438	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5C>T; p.T2M; 18:5489179-5489179	thyroid	other; neoplasm	Substitution - Missense
c.940G>A; p.G314R; 18:5428438-5428438	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.956G>T; p.G319V; 18:5428422-5428422	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.976C>T; p.R326W; 18:5428402-5428402	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.976C>T; p.R326W; 18:5428402-5428402	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1903T>A; p.C635S; 18:5415982-5415982	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.976C>T; p.R326W; 18:5428402-5428402	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1684G>A; p.G562R; 18:5416201-5416201	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2619G>T; p.S873S; 18:5397280-5397280	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.27G>A; p.S9S; 18:5489157-5489157	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1058C>T; p.P353L; 18:5428320-5428320	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2700G>T; p.G900G; 18:5397199-5397199	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2355G>A; p.K785K; 18:5398138-5398138	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2700G>T; p.G900G; 18:5397199-5397199	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3130G>A; p.D1044N; 18:5395090-5395090	thyroid	carcinoma	Substitution - Missense
c.2510C>T; p.T837M; 18:5397389-5397389	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2510C>T; p.T837M; 18:5397389-5397389	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1662C>T; p.P554P; 18:5416223-5416223	pancreas	carcinoma	Substitution - coding silent
c.2773G>A; p.E925K; 18:5397126-5397126	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1203C>A; p.T401T; 18:5423514-5423514	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3162T>G; p.A1054A; 18:5394785-5394785	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2950A>C; p.T984P; 18:5396224-5396224	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1012C>G; p.L338V; 18:5428366-5428366	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2081G>A; p.R694H; 18:5410606-5410606	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3263G>A; p.1088; 18:5394684-5394684	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2560G>A; p.E854K; 18:5397339-5397339	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3156G>A; p.A1052A; 18:5394791-5394791	liver	carcinoma	Substitution - coding silent
c.3156G>A; p.A1052A; 18:5394791-5394791	liver	carcinoma	Substitution - coding silent
c.1877C>T; p.P626L; 18:5416008-5416008	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3156G>A; p.A1052A; 18:5394791-5394791	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - coding silent
c.3203C>T; p.S1068L; 18:5394744-5394744	urinary_tract; bladder	carcinoma	Substitution - Missense
c.158C>T; p.A53V; 18:5489026-5489026	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.815A>G; p.K272R; 18:5433912-5433912	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2858C>T; p.T953M; 18:5396316-5396316	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2301C>T; p.A767A; 18:5406825-5406825	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.805G>A; p.E269K; 18:5433922-5433922	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.815A>G; p.K272R; 18:5433912-5433912	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3059C>T; p.T1020M; 18:5395622-5395622	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3059C>T; p.T1020M; 18:5395622-5395622	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1498G>A; p.E500K; 18:5419719-5419719	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2724G>A; p.E908E; 18:5397175-5397175	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3059C>T; p.T1020M; 18:5395622-5395622	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1341G>A; p.E447E; 18:5419876-5419876	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.144C>T; p.F48F; 18:5489040-5489040	skin	malignant_melanoma	Substitution - coding silent
c.144C>T; p.F48F; 18:5489040-5489040	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.897T>A; p.D299E; 18:5433484-5433484	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.466C>T; p.R156*; 18:5445160-5445160	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1325G>A; p.R442H; 18:5423392-5423392	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2363C>T; p.S788F; 18:5398130-5398130	breast	carcinoma	Substitution - Missense
c.3142G>A; p.D1048N; 18:5395078-5395078	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.634G>T; p.D212Y; 18:5434093-5434093	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2046G>A; p.P682P; 18:5415839-5415839	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2121G>A; p.E707E; 18:5410566-5410566	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2270A>G; p.K757R; 18:5406856-5406856	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2293C>T; p.R765*; 18:5406833-5406833	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.452T>C; p.F151S; 18:5445174-5445174	breast	carcinoma	Substitution - Missense
c.2046G>A; p.P682P; 18:5415839-5415839	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2709G>T; p.E903D; 18:5397190-5397190	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.816G>C; p.K272N; 18:5433911-5433911	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.489T>G; p.N163K; 18:5443878-5443878	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3109A>G; p.K1037E; 18:5395111-5395111	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2620G>A; p.A874T; 18:5397279-5397279	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.69G>T; p.A23A; 18:5489115-5489115	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1781A>T; p.E594V; 18:5416104-5416104	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1781A>T; p.E594V; 18:5416104-5416104	urinary_tract; bladder	carcinoma	Substitution - Missense
c.69G>T; p.A23A; 18:5489115-5489115	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1622G>C; p.G541A; 18:5416263-5416263	stomach	adenocarcinoma	Substitution - Missense
c.978G>A; p.R326R; 18:5428400-5428400	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3213A>T; p.K1071N; 18:5394734-5394734	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2157G>T; p.Q719H; 18:5407701-5407701	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.433T>G; p.L145V; 18:5445193-5445193	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3213A>T; p.K1071N; 18:5394734-5394734	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.433T>G; p.L145V; 18:5445193-5445193	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1813T>A; p.Y605N; 18:5416072-5416072	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2973G>T; p.Q991H; 18:5396201-5396201	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3204A>G; p.S1068S; 18:5394743-5394743	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2T>A; p.M1K; 18:5489182-5489182	thyroid	other; neoplasm	Substitution - Missense
c.2119G>C; p.E707Q; 18:5410568-5410568	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.578C>A; p.P193H; 18:5438062-5438062	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2994G>T; p.L998L; 18:5395687-5395687	skin; leg	malignant_melanoma; superficial_spreading	Substitution - coding silent
c.702G>A; p.Q234Q; 18:5434025-5434025	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1145A>G; p.E382G; 18:5424280-5424280	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1050G>A; p.K350K; 18:5428328-5428328	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1233G>T; p.R411S; 18:5423484-5423484	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.740G>A; p.S247N; 18:5433987-5433987	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3237G>T; p.E1079D; 18:5394710-5394710	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3237G>T; p.E1079D; 18:5394710-5394710	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.712G>A; p.G238R; 18:5434015-5434015	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1137_1138delAT; p.V381fs*1; 18:5424287-5424288	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2271G>C; p.K757N; 18:5406855-5406855	liver	carcinoma	Substitution - Missense
c.2598G>C; p.A866A; 18:5397301-5397301	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2271G>C; p.K757N; 18:5406855-5406855	liver	carcinoma	Substitution - Missense
c.523delG; p.V175fs*12; 18:5443844-5443844	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2113G>A; p.A705T; 18:5410574-5410574	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.499C>A; p.P167T; 18:5443868-5443868	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.716A>G; p.D239G; 18:5434011-5434011	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2495C>T; p.S832F; 18:5397404-5397404	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.100C>A; p.P34T; 18:5489084-5489084	skin; ear	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.470A>G; p.D157G; 18:5445156-5445156	liver	carcinoma	Substitution - Missense
c.212C>T; p.A71V; 18:5478410-5478410	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1155A>T; p.T385T; 18:5424270-5424270	prostate	adenoma	Substitution - coding silent
c.3182A>C; p.K1061T; 18:5394765-5394765	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.564T>G; p.F188L; 18:5438076-5438076	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.564T>G; p.F188L; 18:5438076-5438076	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.564T>G; p.F188L; 18:5438076-5438076	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.70G>T; p.G24W; 18:5489114-5489114	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2657T>G; p.F886C; 18:5397242-5397242	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1492C>A; p.R498R; 18:5419725-5419725	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2855A>T; p.K952M; 18:5396319-5396319	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.530-2A>T; p.?; 18:5438112-5438112	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.2223C>A; p.T741T; 18:5406903-5406903	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.762C>A; p.R254R; 18:5433965-5433965	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.741C>T; p.S247S; 18:5433986-5433986	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2746C>G; p.Q916E; 18:5397153-5397153	breast	carcinoma	Substitution - Missense
c.3127G>T; p.G1043W; 18:5395093-5395093	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2760C>T; p.A920A; 18:5397139-5397139	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.482A>T; p.Q161L; 18:5445144-5445144	skin	malignant_melanoma	Substitution - Missense
c.22G>T; p.D8Y; 18:5489162-5489162	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1715C>A; p.A572D; 18:5416170-5416170	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1663G>A; p.A555T; 18:5416222-5416222	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1663G>A; p.A555T; 18:5416222-5416222	thyroid	other; neoplasm	Substitution - Missense
c.1507-2A>T; p.?; 18:5416380-5416380	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.730G>A; p.E244K; 18:5433997-5433997	breast	carcinoma	Substitution - Missense
c.1495C>T; p.H499Y; 18:5419722-5419722	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2230G>T; p.E744*; 18:5406896-5406896	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.594A>T; p.E198D; 18:5438046-5438046	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.773delA; p.N258fs*10; 18:5433954-5433954	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1390T>C; p.L464L; 18:5419827-5419827	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1382A>G; p.Q461R; 18:5419835-5419835	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2632G>T; p.G878W; 18:5397267-5397267	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.519_520insA; p.Q174fs*12; 18:5443847-5443848	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2375delT; p.L792fs*11; 18:5398118-5398118	eye; uveal_tract	malignant_melanoma; spindle	Deletion - Frameshift
c.2328C>T; p.I776I; 18:5406798-5406798	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2012C>A; p.A671E; 18:5415873-5415873	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3050C>T; p.T1017I; 18:5395631-5395631	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.2645C>A; p.A882E; 18:5397254-5397254	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.939A>T; p.L313F; 18:5428439-5428439	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3050C>G; p.T1017S; 18:5395631-5395631	skin	malignant_melanoma	Substitution - Missense
c.1956_1957insT; p.A653fs*29; 18:5415928-5415929	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.2258A>G; p.N753S; 18:5406868-5406868	breast	carcinoma	Substitution - Missense
c.2473-1G>C; p.?; 18:5397427-5397427	urinary_tract; bladder	carcinoma	Unknown
c.466C>G; p.R156G; 18:5445160-5445160	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1631C>T; p.P544L; 18:5416254-5416254	skin	malignant_melanoma	Substitution - Missense
c.3061C>T; p.H1021Y; 18:5395620-5395620	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1162A>T; p.R388*; 18:5424263-5424263	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2419A>T; p.K807*; 18:5398074-5398074	eye; uveal_tract	malignant_melanoma; spindle	Substitution - Nonsense
c.2380G>A; p.D794N; 18:5398113-5398113	liver	carcinoma	Substitution - Missense
c.983G>A; p.R328Q; 18:5428395-5428395	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1349C>T; p.T450I; 18:5419868-5419868	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1975C>T; p.P659S; 18:5415910-5415910	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2111_2112CT>TC; p.T704I; 18:5410575-5410576	skin	malignant_melanoma	Substitution - Missense
c.2577G>A; p.E859E; 18:5397322-5397322	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2680G>C; p.G894R; 18:5397219-5397219	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3004G>A; p.V1002M; 18:5395677-5395677	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2757A>G; p.T919T; 18:5397142-5397142	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3004G>A; p.V1002M; 18:5395677-5395677	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2757A>G; p.T919T; 18:5397142-5397142	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.117G>T; p.E39D; 18:5489067-5489067	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3004G>A; p.V1002M; 18:5395677-5395677	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2521G>A; p.V841M; 18:5397378-5397378	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.3004G>A; p.V1002M; 18:5395677-5395677	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1878G>A; p.P626P; 18:5416007-5416007	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.696T>A; p.T232T; 18:5434031-5434031	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.488A>G; p.N163S; 18:5443879-5443879	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1197C>T; p.F399F; 18:5423520-5423520	skin	malignant_melanoma	Substitution - coding silent
c.1476G>A; p.T492T; 18:5419741-5419741	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1124G>A; p.R375H; 18:5424301-5424301	urinary_tract; bladder	carcinoma	Substitution - Missense
c.976C>A; p.R326R; 18:5428402-5428402	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2966C>T; p.S989L; 18:5396208-5396208	breast	carcinoma	Substitution - Missense
c.2121+2T>C; p.?; 18:5410564-5410564	skin	malignant_melanoma	Unknown
c.746A>G; p.Y249C; 18:5433981-5433981	lung; left_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1124G>A; p.R375H; 18:5424301-5424301	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2966C>T; p.S989L; 18:5396208-5396208	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.628C>T; p.R210*; 18:5434099-5434099	ovary	other; neoplasm	Substitution - Nonsense
c.628C>T; p.R210*; 18:5434099-5434099	ovary	other; neoplasm	Substitution - Nonsense
c.628C>T; p.R210*; 18:5434099-5434099	ovary	other; neoplasm	Substitution - Nonsense
c.2618C>T; p.S873L; 18:5397281-5397281	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.628C>T; p.R210*; 18:5434099-5434099	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.628C>T; p.R210*; 18:5434099-5434099	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Nonsense
c.2098G>A; p.D700N; 18:5410589-5410589	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.89G>T; p.G30V; 18:5489095-5489095	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2686G>T; p.A896S; 18:5397213-5397213	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2278T>A; p.S760T; 18:5406848-5406848	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2057C>T; p.S686L; 18:5415828-5415828	skin	malignant_melanoma	Substitution - Missense
c.2041G>T; p.D681Y; 18:5415844-5415844	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1587T>C; p.R529R; 18:5416298-5416298	kidney	other; neoplasm	Substitution - coding silent
c.3112C>T; p.R1038*; 18:5395108-5395108	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2209G>A; p.E737K; 18:5406917-5406917	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1453C>T; p.R485W; 18:5419764-5419764	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.738G>T; p.G246G; 18:5433989-5433989	skin	malignant_melanoma	Substitution - coding silent
c.2535G>A; p.P845P; 18:5397364-5397364	pancreas	carcinoma	Substitution - coding silent
c.3112C>T; p.R1038*; 18:5395108-5395108	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3112C>T; p.R1038*; 18:5395108-5395108	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Nonsense
c.387C>T; p.R129R; 18:5445239-5445239	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.674T>C; p.L225P; 18:5434053-5434053	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.50C>T; p.A17V; 18:5489134-5489134	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.1274G>A; p.R425H; 18:5423443-5423443	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1465delG; p.E489fs*78; 18:5419752-5419752	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3010A>T; p.M1004L; 18:5395671-5395671	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2080C>T; p.R694C; 18:5410607-5410607	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1274G>A; p.R425H; 18:5423443-5423443	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2080C>T; p.R694C; 18:5410607-5410607	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2694G>A; p.T898T; 18:5397205-5397205	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.640G>A; p.V214M; 18:5434087-5434087	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2316T>C; p.D772D; 18:5406810-5406810	ovary	other; neoplasm	Substitution - coding silent
c.1031G>A; p.R344Q; 18:5428347-5428347	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2316T>C; p.D772D; 18:5406810-5406810	ovary	other; neoplasm	Substitution - coding silent
c.3125C>T; p.T1042M; 18:5395095-5395095	breast	carcinoma	Substitution - Missense
c.3125C>T; p.T1042M; 18:5395095-5395095	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1475C>T; p.T492M; 18:5419742-5419742	large_intestine; colon	carcinoma	Substitution - Missense
c.3125C>T; p.T1042M; 18:5395095-5395095	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.724C>T; p.P242S; 18:5434003-5434003	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2693C>T; p.T898M; 18:5397206-5397206	liver	carcinoma	Substitution - Missense
c.970C>T; p.R324C; 18:5428408-5428408	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.690C>A; p.S230S; 18:5434037-5434037	breast	carcinoma	Substitution - coding silent
c.1956C>A; p.Y652*; 18:5415929-5415929	ovary	other; neoplasm	Substitution - Nonsense
c.1956C>A; p.Y652*; 18:5415929-5415929	ovary	other; neoplasm	Substitution - Nonsense
c.2152G>A; p.A718T; 18:5407706-5407706	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2302G>T; p.A768S; 18:5406824-5406824	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2256G>A; p.T752T; 18:5406870-5406870	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2632G>A; p.G878R; 18:5397267-5397267	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1525G>A; p.D509N; 18:5416360-5416360	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.461C>T; p.T154M; 18:5445165-5445165	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.655C>T; p.P219S; 18:5434072-5434072	skin	malignant_melanoma	Substitution - Missense
c.1684G>C; p.G562R; 18:5416201-5416201	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3039C>T; p.T1013T; 18:5395642-5395642	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.971G>A; p.R324H; 18:5428407-5428407	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.2084C>T; p.T695M; 18:5410603-5410603	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.956G>C; p.G319A; 18:5428422-5428422	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1957G>A; p.A653T; 18:5415928-5415928	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1957G>A; p.A653T; 18:5415928-5415928	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1957G>A; p.A653T; 18:5415928-5415928	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1637G>A; p.R546K; 18:5416248-5416248	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3119T>C; p.V1040A; 18:5395101-5395101	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2833C>T; p.H945Y; 18:5397066-5397066	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1066-7delT; p.?; 18:5424366-5424366	oesophagus	carcinoma; adenocarcinoma	Unknown
c.2329G>A; p.E777K; 18:5406797-5406797	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2416C>T; p.R806*; 18:5398077-5398077	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2415G>A; p.A805A; 18:5398078-5398078	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2416C>T; p.R806*; 18:5398077-5398077	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2415G>A; p.A805A; 18:5398078-5398078	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2012C>T; p.A671V; 18:5415873-5415873	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2415G>A; p.A805A; 18:5398078-5398078	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.385C>T; p.R129C; 18:5445241-5445241	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.385C>T; p.R129C; 18:5445241-5445241	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1309C>T; p.R437C; 18:5423408-5423408	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2633G>A; p.G878E; 18:5397266-5397266	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2490G>A; p.T830T; 18:5397409-5397409	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1410G>A; p.P470P; 18:5419807-5419807	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2322C>T; p.P774P; 18:5406804-5406804	skin	malignant_melanoma	Substitution - coding silent
c.2243A>G; p.D748G; 18:5406883-5406883	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3126G>T; p.T1042T; 18:5395094-5395094	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1273C>T; p.R425C; 18:5423444-5423444	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2150A>T; p.K717M; 18:5407708-5407708	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.330G>C; p.M110I; 18:5478292-5478292	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.568C>G; p.P190A; 18:5438072-5438072	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3165G>C; p.Q1055H; 18:5394782-5394782	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2005C>G; p.P669A; 18:5415880-5415880	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2550G>T; p.K850N; 18:5397349-5397349	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1618C>A; p.P540T; 18:5416267-5416267	stomach	adenocarcinoma	Substitution - Missense
c.1106_1121del16; p.N369fs*27; 18:5424304-5424319	skin; extremity	malignant_melanoma	Deletion - Frameshift
c.1618C>A; p.P540T; 18:5416267-5416267	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.560A>C; p.K187T; 18:5438080-5438080	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2755A>G; p.T919A; 18:5397144-5397144	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.560A>C; p.K187T; 18:5438080-5438080	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3007C>A; p.L1003M; 18:5395674-5395674	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2974-2A>C; p.?; 18:5395709-5395709	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.383A>G; p.K128R; 18:5445243-5445243	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2761G>A; p.A921T; 18:5397138-5397138	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2065G>C; p.E689Q; 18:5415820-5415820	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2761G>A; p.A921T; 18:5397138-5397138	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2065G>C; p.E689Q; 18:5415820-5415820	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2511G>T; p.T837T; 18:5397388-5397388	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1917C>A; p.I639I; 18:5415968-5415968	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1498G>T; p.E500*; 18:5419719-5419719	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1117G>T; p.A373S; 18:5424308-5424308	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2728G>A; p.A910T; 18:5397171-5397171	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1597A>G; p.K533E; 18:5416288-5416288	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2097C>T; p.A699A; 18:5410590-5410590	skin	malignant_melanoma	Substitution - coding silent
c.1388A>C; p.N463T; 18:5419829-5419829	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.730G>T; p.E244*; 18:5433997-5433997	stomach	adenocarcinoma	Substitution - Nonsense
c.1345G>T; p.G449C; 18:5419872-5419872	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1847T>C; p.L616P; 18:5416038-5416038	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1140T>C; p.C380C; 18:5424285-5424285	liver	carcinoma	Substitution - coding silent
c.1140T>C; p.C380C; 18:5424285-5424285	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.3073-1G>T; p.?; 18:5395148-5395148	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1330T>C; p.L444L; 18:5423387-5423387	skin	malignant_melanoma	Substitution - coding silent
c.1017G>A; p.K339K; 18:5428361-5428361	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3019C>G; p.Q1007E; 18:5395662-5395662	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2074A>C; p.S692R; 18:5410613-5410613	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2461A>C; p.S821R; 18:5398032-5398032	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2246C>A; p.T749N; 18:5406880-5406880	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.904C>A; p.H302N; 18:5433477-5433477	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1727G>T; p.R576I; 18:5416158-5416158	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1492C>T; p.R498W; 18:5419725-5419725	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.874A>G; p.K292E; 18:5433507-5433507	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2140G>A; p.A714T; 18:5407718-5407718	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2039A>G; p.N680S; 18:5415846-5415846	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.1686G>T; p.G562G; 18:5416199-5416199	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2441G>C; p.G814A; 18:5398052-5398052	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2286C>T; p.S762S; 18:5406840-5406840	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2738T>C; p.V913A; 18:5397161-5397161	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.706G>T; p.E236*; 18:5434021-5434021	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.256A>G; p.K86E; 18:5478366-5478366	breast	carcinoma	Substitution - Missense
c.1137A>G; p.V379V; 18:5424288-5424288	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.86C>T; p.A29V; 18:5489098-5489098	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2725G>C; p.V909L; 18:5397174-5397174	central_nervous_system; brain	glioma	Substitution - Missense
c.881C>T; p.S294L; 18:5433500-5433500	skin	malignant_melanoma	Substitution - Missense
c.646G>A; p.G216R; 18:5434081-5434081	large_intestine; colon	adenoma	Substitution - Missense
c.605+1G>A; p.?; 18:5438034-5438034	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2727C>T; p.V909V; 18:5397172-5397172	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2372_2373insA; p.L792fs*6; 18:5398120-5398121	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3174A>G; p.K1058K; 18:5394773-5394773	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2255C>T; p.T752M; 18:5406871-5406871	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2255C>T; p.T752M; 18:5406871-5406871	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1191G>T; p.K397N; 18:5423526-5423526	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2875G>T; p.G959C; 18:5396299-5396299	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1642G>A; p.E548K; 18:5416243-5416243	liver	carcinoma	Substitution - Missense
c.3209C>T; p.T1070I; 18:5394738-5394738	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1881C>A; p.I627I; 18:5416004-5416004	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.422A>T; p.E141V; 18:5445204-5445204	prostate	carcinoma	Substitution - Missense
c.3202T>A; p.S1068T; 18:5394745-5394745	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1406C>A; p.T469N; 18:5419811-5419811	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.263C>G; p.S88C; 18:5478359-5478359	prostate	carcinoma	Substitution - Missense

Mutation summary in protein domains

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The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]