Entrez Gene

Basic Information
Gene ID	4854
Name	NOTCH3
Synonymous	notch 3;NOTCH3;notch 3
Definition	Notch homolog 3\|neurogenic locus notch homolog protein 3
Position	19p13.2-p13.1
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 0.10.

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.3074C>A; p.P1025H; 19:15180749-15180749	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2330C>T; p.P777L; 19:15184986-15184986	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5089G>T; p.V1697L; 19:15170356-15170356	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5543G>A; p.R1848H; 19:15165911-15165911	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.6151C>T; p.P2051S; 19:15161477-15161477	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2953C>T; p.R985C; 19:15181002-15181002	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5799T>A; p.N1933K; 19:15165384-15165384	skin; neck	malignant_melanoma	Substitution - Missense
c.763G>A; p.V255I; 19:15191784-15191784	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5070C>G; p.H1690Q; 19:15170375-15170375	ovary	other; neoplasm	Substitution - Missense
c.6738C>A; p.T2246T; 19:15160890-15160890	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5939C>T; p.A1980V; 19:15161689-15161689	liver	carcinoma	Substitution - Missense
c.1335G>A; p.T445T; 19:15189032-15189032	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3682G>A; p.G1228R; 19:15179061-15179061	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5028C>T; p.F1676F; 19:15170417-15170417	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.6786C>T; p.S2262S; 19:15160842-15160842	skin	malignant_melanoma	Substitution - coding silent
c.4781C>T; p.S1594L; 19:15170781-15170781	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.325C>T; p.P109S; 19:15192392-15192392	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3680G>A; p.G1227D; 19:15179063-15179063	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1669G>T; p.G557C; 19:15187276-15187276	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.973C>T; p.H325Y; 19:15191487-15191487	skin; nipple	malignant_melanoma	Substitution - Missense
c.605C>T; p.A202V; 19:15192034-15192034	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.213_214GG>AA; p.W71_V72>*; 19:15192503-15192504	skin; head_neck	carcinoma; squamous_cell_carcinoma	Complex - deletion inframe
c.5095C>G; p.Q1699E; 19:15170350-15170350	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.1130G>T; p.C377F; 19:15189335-15189335	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.5304G>T; p.L1768L; 19:15167307-15167307	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.5377C>T; p.L1793L; 19:15166077-15166077	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5533C>A; p.L1845M; 19:15165921-15165921	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5098G>T; p.D1700Y; 19:15170347-15170347	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4305C>T; p.R1435R; 19:15177623-15177623	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1690G>A; p.A564T; 19:15187255-15187255	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1690G>A; p.A564T; 19:15187255-15187255	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5676C>T; p.I1892I; 19:15165507-15165507	skin	malignant_melanoma	Substitution - coding silent
c.6380A>T; p.Y2127F; 19:15161248-15161248	liver	carcinoma	Substitution - Missense
c.1132A>C; p.T378P; 19:15189333-15189333	breast	carcinoma	Substitution - Missense
c.5445C>T; p.D1815D; 19:15166009-15166009	breast	carcinoma	Substitution - coding silent
c.2044C>A; p.L682I; 19:15185587-15185587	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3149G>T; p.R1050L; 19:15180250-15180250	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.6076C>T; p.Q2026*; 19:15161552-15161552	breast	carcinoma	Substitution - Nonsense
c.1140T>C; p.P380P; 19:15189325-15189325	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1509G>T; p.T503T; 19:15187978-15187978	pancreas	carcinoma	Substitution - coding silent
c.3762A>T; p.P1254P; 19:15178898-15178898	thyroid	carcinoma	Substitution - coding silent
c.5145G>A; p.G1715G; 19:15170140-15170140	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2331G>A; p.P777P; 19:15184985-15184985	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5412G>A; p.E1804E; 19:15166042-15166042	skin	malignant_melanoma	Substitution - coding silent
c.6106C>T; p.P2036S; 19:15161522-15161522	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5840C>T; p.A1947V; 19:15162538-15162538	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.6945C>G; p.P2315P; 19:15160683-15160683	stomach	adenocarcinoma	Substitution - coding silent
c.2630C>A; p.P877H; 19:15181738-15181738	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4960C>T; p.L1654L; 19:15170485-15170485	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1366_1367insTC; p.C457fs*143; 19:15189000-15189001	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Insertion - Frameshift
c.687G>C; p.E229D; 19:15191860-15191860	lung	carcinoma; large_cell_carcinoma	Substitution - Missense
c.687G>C; p.E229D; 19:15191860-15191860	lung	carcinoma; large_cell_carcinoma	Substitution - Missense
c.5812C>T; p.L1938F; 19:15165371-15165371	skin	malignant_melanoma	Substitution - Missense
c.2985G>A; p.P995P; 19:15180970-15180970	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2652C>A; p.C884*; 19:15181716-15181716	liver	carcinoma	Substitution - Nonsense
c.5837C>T; p.A1946V; 19:15162541-15162541	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2652C>A; p.C884*; 19:15181716-15181716	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.1752C>T; p.D584D; 19:15187193-15187193	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2292C>T; p.V764V; 19:15185261-15185261	skin	malignant_melanoma	Substitution - coding silent
c.5941C>T; p.R1981C; 19:15161687-15161687	ovary	carcinoma; adenocarcinoma	Substitution - Missense
c.905G>A; p.C302Y; 19:15191555-15191555	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4531G>A; p.G1511S; 19:15174273-15174273	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2193G>C; p.Q731H; 19:15185360-15185360	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5763G>A; p.M1921I; 19:15165420-15165420	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5723C>T; p.T1908M; 19:15165460-15165460	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5245C>T; p.Q1749*; 19:15167366-15167366	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.4431C>T; p.D1477D; 19:15174373-15174373	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2029A>C; p.N677H; 19:15185602-15185602	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2029A>C; p.N677H; 19:15185602-15185602	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3646G>A; p.A1216T; 19:15179097-15179097	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5103G>A; p.A1701A; 19:15170342-15170342	breast	carcinoma	Substitution - coding silent
c.6877C>T; p.P2293S; 19:15160751-15160751	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5210C>T; p.P1737L; 19:15167401-15167401	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.5480A>T; p.Q1827L; 19:15165974-15165974	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3776G>A; p.G1259D; 19:15178884-15178884	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5007C>T; p.R1669R; 19:15170438-15170438	liver	carcinoma	Substitution - coding silent
c.5007C>T; p.R1669R; 19:15170438-15170438	liver	carcinoma	Substitution - coding silent
c.5007C>T; p.R1669R; 19:15170438-15170438	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2451C>T; p.P817P; 19:15184410-15184410	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.5261A>G; p.H1754R; 19:15167350-15167350	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1524G>A; p.V508V; 19:15187963-15187963	prostate	carcinoma	Substitution - coding silent
c.5683C>T; p.R1895C; 19:15165500-15165500	prostate	carcinoma	Substitution - Missense
c.4937T>G; p.L1646R; 19:15170508-15170508	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.488G>A; p.R163Q; 19:15192151-15192151	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2905C>T; p.R969W; 19:15181050-15181050	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4766G>A; p.R1589Q; 19:15170796-15170796	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4734C>T; p.I1578I; 19:15174070-15174070	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1399G>A; p.E467K; 19:15188328-15188328	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6637G>A; p.A2213T; 19:15160991-15160991	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1399G>A; p.E467K; 19:15188328-15188328	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6865G>T; p.A2289S; 19:15160763-15160763	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.984C>G; p.T328T; 19:15191476-15191476	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.894C>A; p.H298Q; 19:15191566-15191566	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3291delG; p.T1098fs*174; 19:15180108-15180108	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1067T>C; p.V356A; 19:15189398-15189398	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3291delG; p.T1098fs*174; 19:15180108-15180108	NS	malignant_melanoma	Deletion - Frameshift
c.1886G>T; p.C629F; 19:15186943-15186943	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.136G>A; p.G46R; 19:15197561-15197561	skin	malignant_melanoma	Substitution - Missense
c.1084G>A; p.E362K; 19:15189381-15189381	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.165C>T; p.C55C; 19:15197532-15197532	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2203C>T; p.R735*; 19:15185350-15185350	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.6221C>T; p.P2074L; 19:15161407-15161407	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1084G>A; p.E362K; 19:15189381-15189381	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6221C>T; p.P2074L; 19:15161407-15161407	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4822G>A; p.A1608T; 19:15170740-15170740	breast	carcinoma	Substitution - Missense
c.6532C>T; p.P2178S; 19:15161096-15161096	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5053G>A; p.D1685N; 19:15170392-15170392	skin	malignant_melanoma	Substitution - Missense
c.5074G>A; p.G1692S; 19:15170371-15170371	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6015C>G; p.D2005E; 19:15161613-15161613	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.3683G>A; p.G1228E; 19:15179060-15179060	skin	malignant_melanoma	Substitution - Missense
c.4690G>T; p.G1564C; 19:15174114-15174114	skin	malignant_melanoma	Substitution - Missense
c.4417A>T; p.K1473*; 19:15174387-15174387	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.308G>A; p.R103Q; 19:15192409-15192409	skin	malignant_melanoma	Substitution - Missense
c.1721A>G; p.Y574C; 19:15187224-15187224	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6065G>A; p.R2022H; 19:15161563-15161563	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.308G>A; p.R103Q; 19:15192409-15192409	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5280C>G; p.I1760M; 19:15167331-15167331	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4898C>T; p.P1633L; 19:15170547-15170547	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4898C>T; p.P1633L; 19:15170547-15170547	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3450A>G; p.P1150P; 19:15179374-15179374	liver	carcinoma	Substitution - coding silent
c.1490C>T; p.S497L; 19:15188237-15188237	oesophagus	carcinoma	Substitution - Missense
c.3450A>G; p.P1150P; 19:15179374-15179374	liver	carcinoma	Substitution - coding silent
c.5404delG; p.A1802fs*23; 19:15166050-15166050	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1490C>T; p.S497L; 19:15188237-15188237	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1341C>T; p.L447L; 19:15189026-15189026	central_nervous_system; brain	glioma	Substitution - coding silent
c.790C>A; p.P264T; 19:15191757-15191757	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3795G>A; p.P1265P; 19:15178865-15178865	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1107T>C; p.N369N; 19:15189358-15189358	skin	malignant_melanoma	Substitution - coding silent
c.5089G>A; p.V1697M; 19:15170356-15170356	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2057G>T; p.G686V; 19:15185574-15185574	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5089G>A; p.V1697M; 19:15170356-15170356	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1227G>T; p.V409V; 19:15189140-15189140	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2692C>A; p.P898T; 19:15181676-15181676	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2665G>A; p.D889N; 19:15181703-15181703	breast	carcinoma	Substitution - Missense
c.6201delC; p.K2069fs*16; 19:15161427-15161427	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1924G>A; p.D642N; 19:15186905-15186905	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5491C>G; p.L1831V; 19:15165963-15165963	central_nervous_system; brain	glioma	Substitution - Missense
c.6864_6865delTG; p.A2289fs*>33; 19:15160763-15160764	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.6864_6865delTG; p.A2289fs*>33; 19:15160763-15160764	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.1662C>T; p.C554C; 19:15187283-15187283	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.676C>T; p.P226S; 19:15191963-15191963	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6668C>T; p.A2223V; 19:15160960-15160960	thyroid	other; neoplasm	Substitution - Missense
c.6668C>T; p.A2223V; 19:15160960-15160960	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6668C>T; p.A2223V; 19:15160960-15160960	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.660C>T; p.Y220Y; 19:15191979-15191979	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.6668C>T; p.A2223V; 19:15160960-15160960	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5595C>T; p.T1865T; 19:15165859-15165859	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.676C>T; p.P226S; 19:15191963-15191963	skin	malignant_melanoma	Substitution - Missense
c.660C>T; p.Y220Y; 19:15191979-15191979	breast	carcinoma	Substitution - coding silent
c.2944C>T; p.P982S; 19:15181011-15181011	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3280C>T; p.Q1094*; 19:15180119-15180119	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3259C>T; p.P1087S; 19:15180140-15180140	skin	malignant_melanoma	Substitution - Missense
c.5354G>A; p.R1785H; 19:15167257-15167257	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2528G>A; p.G843D; 19:15184333-15184333	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2492G>A; p.G831E; 19:15184369-15184369	skin; leg	malignant_melanoma	Substitution - Missense
c.2492G>A; p.G831E; 19:15184369-15184369	skin; leg	malignant_melanoma	Substitution - Missense
c.752G>C; p.C251S; 19:15191795-15191795	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.901G>A; p.V301M; 19:15191559-15191559	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1207G>A; p.E403K; 19:15189160-15189160	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.901G>A; p.V301M; 19:15191559-15191559	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.171G>T; p.Q57H; 19:15197526-15197526	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2052G>A; p.P684P; 19:15185579-15185579	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2984C>T; p.P995L; 19:15180971-15180971	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3161T>G; p.L1054R; 19:15180238-15180238	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.5465C>T; p.S1822F; 19:15165989-15165989	skin	malignant_melanoma	Substitution - Missense
c.6953A>T; p.Q2318L; 19:15160675-15160675	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.5548G>A; p.A1850T; 19:15165906-15165906	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3523C>T; p.R1175W; 19:15179220-15179220	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.545G>A; p.R182H; 19:15192094-15192094	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.5173G>A; p.E1725K; 19:15170112-15170112	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.545G>A; p.R182H; 19:15192094-15192094	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6953A>T; p.Q2318L; 19:15160675-15160675	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.6809C>T; p.T2270M; 19:15160819-15160819	central_nervous_system; brain	glioma	Substitution - Missense
c.2716G>A; p.A906T; 19:15181652-15181652	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3567C>T; p.F1189F; 19:15179176-15179176	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1122G>C; p.R374R; 19:15189343-15189343	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.626G>A; p.G209E; 19:15192013-15192013	skin	malignant_melanoma	Substitution - Missense
c.5317G>A; p.G1773S; 19:15167294-15167294	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3580C>T; p.P1194S; 19:15179163-15179163	skin	malignant_melanoma	Substitution - Missense
c.2659G>A; p.D887N; 19:15181709-15181709	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4501G>T; p.A1501S; 19:15174303-15174303	thyroid	other; neoplasm	Substitution - Missense
c.5006G>A; p.R1669H; 19:15170439-15170439	central_nervous_system; brain	glioma	Substitution - Missense
c.1236G>T; p.Q412H; 19:15189131-15189131	pancreas	carcinoma	Substitution - Missense
c.1236G>T; p.Q412H; 19:15189131-15189131	pancreas	carcinoma	Substitution - Missense
c.2094C>A; p.P698P; 19:15185537-15185537	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5800G>A; p.A1934T; 19:15165383-15165383	skin; neck	malignant_melanoma	Substitution - Missense
c.5006G>A; p.R1669H; 19:15170439-15170439	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6597G>A; p.G2199G; 19:15161031-15161031	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1291G>A; p.D431N; 19:15189076-15189076	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3599delT; p.L1200fs*72; 19:15179144-15179144	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3011G>A; p.C1004Y; 19:15180812-15180812	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6029A>G; p.D2010G; 19:15161599-15161599	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.105G>C; p.G35G; 19:15200801-15200801	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2538C>T; p.C846C; 19:15184323-15184323	thyroid	other; neoplasm	Substitution - coding silent
c.3087C>T; p.S1029S; 19:15180736-15180736	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1193-1G>T; p.?; 19:15189175-15189175	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Unknown
c.1193-1G>T; p.?; 19:15189175-15189175	urinary_tract; bladder	carcinoma	Unknown
c.1238G>A; p.G413D; 19:15189129-15189129	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2834C>T; p.S945L; 19:15181121-15181121	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5744G>A; p.R1915H; 19:15165439-15165439	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.2084delC; p.P695fs*165; 19:15185547-15185547	oesophagus; lower_third	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5744G>A; p.R1915H; 19:15165439-15165439	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5081G>A; p.R1694Q; 19:15170364-15170364	skin	malignant_melanoma	Substitution - Missense
c.412C>A; p.P138T; 19:15192227-15192227	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1790G>C; p.C597S; 19:15187155-15187155	central_nervous_system; brain	glioma; astrocytoma_Grade_II	Substitution - Missense
c.3463G>A; p.V1155M; 19:15179280-15179280	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3150G>T; p.R1050R; 19:15180249-15180249	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.6200C>T; p.P2067L; 19:15161428-15161428	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1095C>G; p.I365M; 19:15189370-15189370	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1095C>G; p.I365M; 19:15189370-15189370	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.3150G>T; p.R1050R; 19:15180249-15180249	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5856G>A; p.V1952V; 19:15162522-15162522	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5856G>A; p.V1952V; 19:15162522-15162522	skin	malignant_melanoma	Substitution - coding silent
c.3310G>T; p.G1104W; 19:15180089-15180089	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4088G>62; p.C1363fs*1; 19:15177840-15177840	central_nervous_system; brainstem	glioma; astrocytoma_Grade_IV	Unknown
c.1300G>A; p.E434K; 19:15189067-15189067	upper_aerodigestive_tract; sinonasal_and_nasal_cavity	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6287C>T; p.S2096L; 19:15161341-15161341	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6287C>T; p.S2096L; 19:15161341-15161341	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.5500C>T; p.R1834W; 19:15165954-15165954	liver	carcinoma	Substitution - Missense
c.125delC; p.P42fs*194; 19:15197572-15197572	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4821C>T; p.A1607A; 19:15170741-15170741	liver	carcinoma	Substitution - coding silent
c.125delC; p.P42fs*194; 19:15197572-15197572	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5500C>T; p.R1834W; 19:15165954-15165954	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.4821C>T; p.A1607A; 19:15170741-15170741	liver	carcinoma	Substitution - coding silent
c.731G>A; p.R244Q; 19:15191816-15191816	skin	malignant_melanoma	Substitution - Missense
c.5451A>G; p.S1817S; 19:15166003-15166003	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.731G>A; p.R244Q; 19:15191816-15191816	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.900C>T; p.C300C; 19:15191560-15191560	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3648G>A; p.A1216A; 19:15179095-15179095	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4986C>G; p.V1662V; 19:15170459-15170459	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6884C>G; p.S2295C; 19:15160744-15160744	skin	malignant_melanoma	Substitution - Missense
c.5809G>A; p.E1937K; 19:15165374-15165374	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5809G>A; p.E1937K; 19:15165374-15165374	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5111T>G; p.M1704R; 19:15170334-15170334	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.6005A>G; p.D2002G; 19:15161623-15161623	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1192+1G>A; p.?; 19:15189272-15189272	skin	malignant_melanoma	Unknown
c.2536T>C; p.C846R; 19:15184325-15184325	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1300G>T; p.E434*; 19:15189067-15189067	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3607G>A; p.E1203K; 19:15179136-15179136	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3607G>A; p.E1203K; 19:15179136-15179136	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2776C>T; p.P926S; 19:15181592-15181592	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5164A>G; p.M1722V; 19:15170121-15170121	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5633C>T; p.T1878I; 19:15165821-15165821	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5678G>A; p.R1893Q; 19:15165505-15165505	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5678G>A; p.R1893Q; 19:15165505-15165505	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5678G>A; p.R1893Q; 19:15165505-15165505	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.797G>A; p.W266*; 19:15191750-15191750	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Nonsense
c.5678G>A; p.R1893Q; 19:15165505-15165505	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1832G>A; p.G611E; 19:15187113-15187113	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3568C>T; p.R1190C; 19:15179175-15179175	pancreas	carcinoma	Substitution - Missense
c.2120G>A; p.G707D; 19:15185511-15185511	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5542C>A; p.R1848S; 19:15165912-15165912	skin	malignant_melanoma	Substitution - Missense
c.1036+1G>T; p.?; 19:15191423-15191423	oesophagus	carcinoma; squamous_cell_carcinoma	Unknown
c.6143C>T; p.A2048V; 19:15161485-15161485	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6143C>T; p.A2048V; 19:15161485-15161485	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5029C>T; p.P1677S; 19:15170416-15170416	skin	malignant_melanoma	Substitution - Missense
c.5065G>T; p.G1689C; 19:15170380-15170380	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.6143C>T; p.A2048V; 19:15161485-15161485	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5348A>G; p.N1783S; 19:15167263-15167263	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.5987C>T; p.A1996V; 19:15161641-15161641	pancreas	carcinoma	Substitution - Missense
c.6092G>A; p.R2031H; 19:15161536-15161536	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6092G>A; p.R2031H; 19:15161536-15161536	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.850G>A; p.A284T; 19:15191610-15191610	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6092G>A; p.R2031H; 19:15161536-15161536	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6633C>A; p.Y2211*; 19:15160995-15160995	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4912G>A; p.E1638K; 19:15170533-15170533	skin	malignant_melanoma	Substitution - Missense
c.6854G>T; p.G2285V; 19:15160774-15160774	thyroid	other; neoplasm	Substitution - Missense
c.4926G>A; p.P1642P; 19:15170519-15170519	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.401G>C; p.C134S; 19:15192238-15192238	pancreas	carcinoma	Substitution - Missense
c.2589G>A; p.S863S; 19:15181779-15181779	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.3314delG; p.G1105fs*167; 19:15180085-15180085	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.661G>A; p.D221N; 19:15191978-15191978	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5993G>A; p.R1998H; 19:15161635-15161635	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2202C>T; p.A734A; 19:15185351-15185351	lung	carcinoma; undifferentiated_carcinoma	Substitution - coding silent
c.5319C>T; p.G1773G; 19:15167292-15167292	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.6511G>A; p.D2171N; 19:15161117-15161117	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2330C>A; p.P777Q; 19:15184986-15184986	liver	carcinoma	Substitution - Missense
c.4364A>G; p.N1455S; 19:15177564-15177564	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1109C>T; p.P370L; 19:15189356-15189356	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4563A>G; p.P1521P; 19:15174241-15174241	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4563A>G; p.P1521P; 19:15174241-15174241	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4563A>G; p.P1521P; 19:15174241-15174241	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4563A>G; p.P1521P; 19:15174241-15174241	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4563A>G; p.P1521P; 19:15174241-15174241	breast	carcinoma	Substitution - coding silent
c.4451G>A; p.C1484Y; 19:15174353-15174353	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4563A>G; p.P1521P; 19:15174241-15174241	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4563A>G; p.P1521P; 19:15174241-15174241	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4563A>G; p.P1521P; 19:15174241-15174241	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4563A>G; p.P1521P; 19:15174241-15174241	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4563A>G; p.P1521P; 19:15174241-15174241	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4563A>G; p.P1521P; 19:15174241-15174241	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1528G>A; p.E510K; 19:15187959-15187959	skin	malignant_melanoma	Substitution - Missense
c.1321C>T; p.R441*; 19:15189046-15189046	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.972C>T; p.F324F; 19:15191488-15191488	skin; nipple	malignant_melanoma	Substitution - coding silent
c.1774C>A; p.R592S; 19:15187171-15187171	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.364C>T; p.P122S; 19:15192275-15192275	skin	malignant_melanoma	Substitution - Missense
c.714C>T; p.D238D; 19:15191833-15191833	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.69delC; p.V24fs*10; 19:15200837-15200837	autonomic_ganglia	neuroblastoma	Deletion - Frameshift
c.5717G>A; p.G1906D; 19:15165466-15165466	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3591C>A; p.Y1197*; 19:15179152-15179152	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.4636C>T; p.R1546C; 19:15174168-15174168	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4619G>A; p.R1540H; 19:15174185-15174185	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5778C>T; p.I1926I; 19:15165405-15165405	skin	malignant_melanoma	Substitution - coding silent
c.5639T>C; p.V1880A; 19:15165815-15165815	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6026G>A; p.R2009Q; 19:15161602-15161602	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.816G>A; p.T272T; 19:15191644-15191644	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.337C>T; p.R113*; 19:15192380-15192380	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.816G>A; p.T272T; 19:15191644-15191644	skin	malignant_melanoma	Substitution - coding silent
c.629G>C; p.G210A; 19:15192010-15192010	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1319G>A; p.C440Y; 19:15189048-15189048	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5404_5405insG; p.A1802fs*8; 19:15166049-15166050	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.5404_5405insG; p.A1802fs*8; 19:15166049-15166050	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1073A>C; p.N358T; 19:15189392-15189392	thyroid	other; neoplasm	Substitution - Missense
c.5404_5405insG; p.A1802fs*8; 19:15166049-15166050	thyroid	carcinoma; anaplastic_carcinoma	Insertion - Frameshift
c.2073C>G; p.L691L; 19:15185558-15185558	breast	carcinoma	Substitution - coding silent
c.1522G>A; p.V508M; 19:15187965-15187965	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2467C>A; p.H823N; 19:15184394-15184394	central_nervous_system; brainstem	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.312C>T; p.F104F; 19:15192405-15192405	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4867C>T; p.P1623S; 19:15170695-15170695	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1322G>A; p.R441Q; 19:15189045-15189045	skin	malignant_melanoma	Substitution - Missense
c.6111C>T; p.H2037H; 19:15161517-15161517	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.5390C>G; p.S1797C; 19:15166064-15166064	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1102A>T; p.T368S; 19:15189363-15189363	breast	carcinoma	Substitution - Missense
c.5383C>A; p.L1795M; 19:15166071-15166071	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4615C>T; p.L1539L; 19:15174189-15174189	skin; upper_leg	malignant_melanoma	Substitution - coding silent
c.1205G>T; p.C402F; 19:15189162-15189162	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.994C>A; p.R332S; 19:15191466-15191466	liver	carcinoma	Substitution - Missense
c.1541C>T; p.T514M; 19:15187946-15187946	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.994C>A; p.R332S; 19:15191466-15191466	liver	carcinoma	Substitution - Missense
c.2671T>A; p.C891S; 19:15181697-15181697	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3016C>T; p.R1006C; 19:15180807-15180807	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4669C>T; p.P1557S; 19:15174135-15174135	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5841G>T; p.A1947A; 19:15162537-15162537	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.908T>C; p.V303A; 19:15191552-15191552	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1220G>T; p.R407M; 19:15189147-15189147	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6325C>A; p.R2109R; 19:15161303-15161303	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.6923G>A; p.G2308E; 19:15160705-15160705	liver	carcinoma	Substitution - Missense
c.6923G>A; p.G2308E; 19:15160705-15160705	liver	carcinoma	Substitution - Missense
c.4999C>T; p.R1667C; 19:15170446-15170446	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1411G>T; p.D471Y; 19:15188316-15188316	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3692G>A; p.R1231H; 19:15179051-15179051	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5510G>A; p.R1837H; 19:15165944-15165944	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6626C>T; p.P2209L; 19:15161002-15161002	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5510G>A; p.R1837H; 19:15165944-15165944	skin	malignant_melanoma	Substitution - Missense
c.5510G>A; p.R1837H; 19:15165944-15165944	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3692G>A; p.R1231H; 19:15179051-15179051	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3197G>A; p.S1066N; 19:15180202-15180202	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4724C>T; p.P1575L; 19:15174080-15174080	skin	malignant_melanoma	Substitution - Missense
c.2742A>G; p.P914P; 19:15181626-15181626	thyroid	other; neoplasm	Substitution - coding silent
c.4921G>A; p.V1641I; 19:15170524-15170524	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3328-9C>T; p.?; 19:15179505-15179505	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.4987A>T; p.M1663L; 19:15170458-15170458	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3407C>T; p.S1136L; 19:15179417-15179417	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3255G>T; p.V1085V; 19:15180144-15180144	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.5095C>T; p.Q1699*; 19:15170350-15170350	skin; upper_leg	malignant_melanoma	Substitution - Nonsense
c.3483G>A; p.E1161E; 19:15179260-15179260	skin	malignant_melanoma	Substitution - coding silent
c.1674C>T; p.R558R; 19:15187271-15187271	large_intestine; colon	carcinoma	Substitution - coding silent
c.5644G>A; p.A1882T; 19:15165810-15165810	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1674C>T; p.R558R; 19:15187271-15187271	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1246C>T; p.L416L; 19:15189121-15189121	pancreas	carcinoma	Substitution - coding silent
c.4576C>T; p.R1526C; 19:15174228-15174228	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1193-4G>A; p.?; 19:15189178-15189178	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Unknown
c.6580_6581insC; p.Q2194fs*48; 19:15161047-15161048	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.4637G>A; p.R1546H; 19:15174167-15174167	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4835G>A; p.G1612E; 19:15170727-15170727	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5807A>G; p.D1936G; 19:15165376-15165376	oesophagus	carcinoma	Substitution - Missense
c.5114+2T>A; p.?; 19:15170329-15170329	oesophagus	carcinoma; squamous_cell_carcinoma	Unknown
c.1285G>A; p.E429K; 19:15189082-15189082	skin	malignant_melanoma	Substitution - Missense
c.4402A>C; p.N1468H; 19:15177526-15177526	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.4426G>A; p.A1476T; 19:15174378-15174378	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5114+2T>A; p.?; 19:15170329-15170329	oesophagus	carcinoma; squamous_cell_carcinoma	Unknown
c.1737C>A; p.C579*; 19:15187208-15187208	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.815C>T; p.T272M; 19:15191645-15191645	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3632C>T; p.S1211L; 19:15179111-15179111	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2653G>A; p.A885T; 19:15181715-15181715	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3967T>C; p.S1323P; 19:15177961-15177961	thyroid	other; neoplasm	Substitution - Missense
c.5242C>T; p.R1748C; 19:15167369-15167369	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.1068C>A; p.V356V; 19:15189397-15189397	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6383C>T; p.A2128V; 19:15161245-15161245	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.3254T>G; p.V1085G; 19:15180145-15180145	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.747delG; p.T250fs*122; 19:15191800-15191800	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1121G>T; p.R374L; 19:15189344-15189344	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1642G>A; p.D548N; 19:15187303-15187303	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.5980C>A; p.H1994N; 19:15161648-15161648	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5102C>T; p.A1701V; 19:15170343-15170343	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.5839G>A; p.A1947T; 19:15162539-15162539	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1642G>A; p.D548N; 19:15187303-15187303	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.5102C>T; p.A1701V; 19:15170343-15170343	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5779G>A; p.A1927T; 19:15165404-15165404	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5323G>A; p.A1775T; 19:15167288-15167288	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5323G>A; p.A1775T; 19:15167288-15167288	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5779G>A; p.A1927T; 19:15165404-15165404	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.63G>A; p.P21P; 19:15200843-15200843	liver	carcinoma	Substitution - coding silent
c.6654C>T; p.G2218G; 19:15160974-15160974	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.6654C>T; p.G2218G; 19:15160974-15160974	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6102delC; p.G2035fs*50; 19:15161526-15161526	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.63G>A; p.P21P; 19:15200843-15200843	liver	carcinoma	Substitution - coding silent
c.423C>A; p.R141R; 19:15192216-15192216	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1732C>G; p.R578G; 19:15187213-15187213	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4559C>T; p.P1520L; 19:15174245-15174245	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4560G>A; p.P1520P; 19:15174244-15174244	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.753C>T; p.C251C; 19:15191794-15191794	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3573C>T; p.C1191C; 19:15179170-15179170	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2275A>T; p.T759S; 19:15185278-15185278	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2275A>T; p.T759S; 19:15185278-15185278	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4974C>A; p.L1658L; 19:15170471-15170471	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.224G>A; p.R75Q; 19:15192493-15192493	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2741C>T; p.P914L; 19:15181627-15181627	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6601C>T; p.P2201S; 19:15161027-15161027	central_nervous_system; brain	glioma	Substitution - Missense
c.1521C>G; p.D507E; 19:15187966-15187966	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5281C>T; p.R1761C; 19:15167330-15167330	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.754G>A; p.V252M; 19:15191793-15191793	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1594C>T; p.R532C; 19:15187893-15187893	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4806C>T; p.P1602P; 19:15170756-15170756	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6785C>G; p.S2262C; 19:15160843-15160843	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.768C>T; p.N256N; 19:15191779-15191779	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3371A>G; p.D1124G; 19:15179453-15179453	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5403G>T; p.G1801G; 19:15166051-15166051	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2668G>A; p.E890K; 19:15181700-15181700	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3091C>T; p.R1031C; 19:15180732-15180732	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5161T>G; p.W1721G; 19:15170124-15170124	thyroid	other; neoplasm	Substitution - Missense
c.3425C>A; p.A1142D; 19:15179399-15179399	large_intestine; rectum	NS	Substitution - Missense
c.4834G>T; p.G1612*; 19:15170728-15170728	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.4975G>A; p.V1659I; 19:15170470-15170470	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.3433C>G; p.L1145V; 19:15179391-15179391	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1850G>C; p.C617S; 19:15186979-15186979	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3096C>A; p.L1032L; 19:15180727-15180727	breast	carcinoma	Substitution - coding silent
c.475G>A; p.V159M; 19:15192164-15192164	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1195G>A; p.A399T; 19:15189172-15189172	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5338A>G; p.M1780V; 19:15167273-15167273	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2182C>T; p.R728C; 19:15185371-15185371	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2566+2T>G; p.?; 19:15184293-15184293	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2080C>T; p.P694S; 19:15185551-15185551	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3602G>A; p.R1201H; 19:15179141-15179141	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3602G>A; p.R1201H; 19:15179141-15179141	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.179C>T; p.S60F; 19:15197518-15197518	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5914-1G>T; p.?; 19:15161715-15161715	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.5200G>A; p.V1734I; 19:15167411-15167411	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3711C>A; p.G1237G; 19:15179032-15179032	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.2093C>T; p.P698L; 19:15185538-15185538	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2182C>T; p.R728C; 19:15185371-15185371	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6569C>T; p.A2190V; 19:15161059-15161059	liver	carcinoma	Substitution - Missense
c.4575G>T; p.L1525L; 19:15174229-15174229	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6569C>T; p.A2190V; 19:15161059-15161059	liver	carcinoma	Substitution - Missense
c.6897C>T; p.S2299S; 19:15160731-15160731	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5488C>T; p.Q1830*; 19:15165966-15165966	prostate	carcinoma	Substitution - Nonsense
c.4470G>A; p.T1490T; 19:15174334-15174334	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5068C>T; p.H1690Y; 19:15170377-15170377	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4805C>T; p.P1602L; 19:15170757-15170757	skin	malignant_melanoma	Substitution - Missense
c.5713G>C; p.D1905H; 19:15165470-15165470	breast	carcinoma	Substitution - Missense
c.4625C>T; p.S1542L; 19:15174179-15174179	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1083C>T; p.H361H; 19:15189382-15189382	pancreas	carcinoma	Substitution - coding silent
c.5932C>T; p.L1978L; 19:15161696-15161696	skin	malignant_melanoma	Substitution - coding silent
c.5733C>T; p.I1911I; 19:15165450-15165450	skin	malignant_melanoma	Substitution - coding silent
c.5026T>C; p.F1676L; 19:15170419-15170419	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3563G>A; p.G1188D; 19:15179180-15179180	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2629C>T; p.P877S; 19:15181739-15181739	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5641A>C; p.T1881P; 19:15165813-15165813	breast	carcinoma	Substitution - Missense
c.3155A>G; p.E1052G; 19:15180244-15180244	breast	carcinoma	Substitution - Missense
c.2322C>T; p.P774P; 19:15184994-15184994	pancreas	carcinoma	Substitution - coding silent
c.3563G>A; p.G1188D; 19:15179180-15179180	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.4529G>A; p.R1510H; 19:15174275-15174275	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4529G>A; p.R1510H; 19:15174275-15174275	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1919G>A; p.R640H; 19:15186910-15186910	liver	carcinoma	Substitution - Missense
c.1919G>A; p.R640H; 19:15186910-15186910	liver	carcinoma	Substitution - Missense
c.1852G>A; p.E618K; 19:15186977-15186977	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1785C>T; p.G595G; 19:15187160-15187160	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1440C>T; p.N480N; 19:15188287-15188287	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3568C>G; p.R1190G; 19:15179175-15179175	skin	malignant_melanoma	Substitution - Missense
c.1144G>A; p.G382S; 19:15189321-15189321	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6537C>T; p.A2179A; 19:15161091-15161091	skin	malignant_melanoma	Substitution - coding silent
c.5984_5985delTT; p.F1995fs*4; 19:15161643-15161644	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3299G>A; p.R1100H; 19:15180100-15180100	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3299G>A; p.R1100H; 19:15180100-15180100	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4997G>A; p.R1666Q; 19:15170448-15170448	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.649G>A; p.D217N; 19:15191990-15191990	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5386G>T; p.A1796S; 19:15166068-15166068	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1177G>A; p.D393N; 19:15189288-15189288	skin	malignant_melanoma	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]