Entrez Gene

Basic Information
Gene ID	6597
Name	SMARCA4
Synonymous	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4;SMARCA4;SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
Definition	ATP-dependent helicase SMARCA4\|BRG1-associated factor 190A\|BRM/SWI2-related gene 1\|SNF2-beta\|SNF2-like 4\|brahma protein-like 1\|global transcription activator homologous sequence\|homeotic gene regulator\|mitotic growth and transcription activator\|nuclear pr
Position	19p13.2
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 0.29.

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.2438+1G>A; p.?; 19:11013113-11013113	ovary	carcinoma; small_cell_carcinoma	Unknown
c.2438+1G>A; p.?; 19:11013113-11013113	ovary	carcinoma; small_cell_carcinoma	Unknown
c.2002-2A>G; p.?; 19:11007900-11007900	lung	carcinoma; adenocarcinoma	Unknown
c.4231C>T; p.R1411W; 19:11041367-11041367	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1413G>A; p.K471K; 19:10991317-10991317	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3572A>G; p.H1191R; 19:11033315-11033315	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.2427C>T; p.I809I; 19:11013101-11013101	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3768_3769delGG; p.D1257fs*1; 19:11033511-11033512	breast	carcinoma	Deletion - Frameshift
c.479A>G; p.Q160R; 19:10986312-10986312	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.3324C>T; p.L1108L; 19:11027892-11027892	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.3324C>T; p.L1108L; 19:11027892-11027892	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4477G>T; p.E1493*; 19:11058307-11058307	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3620T>C; p.V1207A; 19:11033363-11033363	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1761+1G>A; p.?; 19:10996381-10996381	ovary	carcinoma; small_cell_carcinoma	Unknown
c.2843C>T; p.A948V; 19:11021951-11021951	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4826T>C; p.L1609P; 19:11060102-11060102	central_nervous_system; brain	glioma	Substitution - Missense
c.3109A>T; p.N1037Y; 19:11025449-11025449	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.3379G>T; p.D1127Y; 19:11027947-11027947	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1683G>T; p.V561V; 19:10996302-10996302	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2767G>C; p.A923P; 19:11021875-11021875	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3652G>T; p.A1218S; 19:11033395-11033395	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1190G>A; p.R397Q; 19:10989388-10989388	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2971A>G; p.K991E; 19:11023629-11023629	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.3168+1G>A; p.?; 19:11025509-11025509	ovary	carcinoma; small_cell_carcinoma	Unknown
c.2644G>A; p.E882K; 19:11021752-11021752	skin	malignant_melanoma	Substitution - Missense
c.4776C>T; p.S1592S; 19:11060052-11060052	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2644G>A; p.E882K; 19:11021752-11021752	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Burkitt_lymphoma	Substitution - Missense
c.4201G>A; p.E1401K; 19:11041337-11041337	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3745G>T; p.A1249S; 19:11033488-11033488	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4776C>T; p.S1592S; 19:11060052-11060052	thyroid	carcinoma; anaplastic_carcinoma	Substitution - coding silent
c.3099G>C; p.K1033N; 19:11025439-11025439	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3476delG; p.L1161fs*3; 19:11030823-11030823	lung	carcinoma; large_cell_carcinoma	Deletion - Frameshift
c.4702G>A; p.D1568N; 19:11059819-11059819	breast	carcinoma	Substitution - Missense
c.2184G>A; p.L728L; 19:11010441-11010441	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2730G>A; p.T910T; 19:11021838-11021838	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2057_2059delAGA; p.K689delK; 19:11007957-11007959	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.1419+1G>T; p.?; 19:10991324-10991324	ovary	carcinoma; small_cell_carcinoma	Unknown
c.417G>A; p.P139P; 19:10986250-10986250	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.784C>T; p.P262S; 19:10986928-10986928	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4333C>T; p.R1445W; 19:11041469-11041469	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3633G>A; p.E1211E; 19:11033376-11033376	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.4584C>T; p.D1528D; 19:11058838-11058838	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.2001_2001delG; p.E668fs*106; 19:11003397-11003397	ovary	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.3633G>A; p.E1211E; 19:11033376-11033376	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.1058delC; p.I355fs*56; 19:10987864-10987864	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4584C>T; p.D1528D; 19:11058838-11058838	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3404G>A; p.R1135Q; 19:11030751-11030751	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.4383G>C; p.K1461N; 19:11041519-11041519	skin	malignant_melanoma	Substitution - Missense
c.416C>T; p.P139L; 19:10986249-10986249	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2941A>G; p.K981E; 19:11023599-11023599	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1108C>T; p.R370C; 19:10987914-10987914	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.416C>T; p.P139L; 19:10986249-10986249	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.3760G>T; p.E1254*; 19:11033503-11033503	ovary	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.302G>T; p.G101V; 19:10985352-10985352	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3488T>C; p.L1163P; 19:11030835-11030835	large_intestine; colon	carcinoma	Substitution - Missense
c.3488T>C; p.L1163P; 19:11030835-11030835	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2942A>T; p.K981M; 19:11023600-11023600	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.433A>T; p.M145L; 19:10986266-10986266	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1016C>T; p.P339L; 19:10987822-10987822	skin	malignant_melanoma	Substitution - Missense
c.3488T>C; p.L1163P; 19:11030835-11030835	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1558G>T; p.E520*; 19:10994966-10994966	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3546+1G>T; p.?; 19:11030894-11030894	lung	carcinoma; adenocarcinoma	Unknown
c.3046G>A; p.V1016M; 19:11024403-11024403	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3046G>A; p.V1016M; 19:11024403-11024403	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3630_3632delGGA; p.E1212delE; 19:11033373-11033375	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.2022G>A; p.P674P; 19:11007922-11007922	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1630C>T; p.Q544*; 19:10996249-10996249	breast	carcinoma	Substitution - Nonsense
c.3770_3771insC; p.E1258fs*1; 19:11033513-11033514	breast	carcinoma	Insertion - Frameshift
c.3744G>C; p.Q1248H; 19:11033487-11033487	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4067G>A; p.R1356Q; 19:11035029-11035029	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3566G>A; p.R1189Q; 19:11033309-11033309	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3566G>A; p.R1189Q; 19:11033309-11033309	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.363_364insC; p.S122fs*7; 19:10986196-10986197	large_intestine; colon	carcinoma	Insertion - Frameshift
c.4158G>A; p.K1386K; 19:11035120-11035120	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.851G>T; p.W284L; 19:10986995-10986995	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2438+1G>T; p.?; 19:11013113-11013113	soft_tissue; striated_muscle	rhabdoid_tumour	Unknown
c.3706C>T; p.Q1236*; 19:11033449-11033449	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3067G>C; p.E1023Q; 19:11024424-11024424	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1259T>C; p.V420A; 19:10991163-10991163	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4105C>A; p.R1369S; 19:11035067-11035067	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4606G>A; p.A1536T; 19:11058860-11058860	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2987T>G; p.I996S; 19:11024344-11024344	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1165_1165delC; p.S391fs*20; 19:10989363-10989363	ovary	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.3469C>T; p.R1157W; 19:11030816-11030816	pancreas	NS	Substitution - Missense
c.3704A>G; p.D1235G; 19:11033447-11033447	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.3469C>T; p.R1157W; 19:11030816-11030816	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.3469C>T; p.R1157W; 19:11030816-11030816	central_nervous_system; medulla	primitive_neuroectodermal_tumour-medulloblastoma; classic	Substitution - Missense
c.2338G>A; p.E780K; 19:11013012-11013012	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1118+1G>A; p.?; 19:10987925-10987925	kidney	other; neoplasm	Unknown
c.3469C>T; p.R1157W; 19:11030816-11030816	skin; trunk	malignant_melanoma	Substitution - Missense
c.1195A>T; p.K399*; 19:10989393-10989393	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2301C>T; p.S767S; 19:11012975-11012975	skin	malignant_melanoma	Substitution - coding silent
c.3580G>A; p.G1194R; 19:11033323-11033323	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3910C>T; p.Q1304*; 19:11034159-11034159	liver	carcinoma	Substitution - Nonsense
c.3910C>T; p.Q1304*; 19:11034159-11034159	liver	carcinoma	Substitution - Nonsense
c.2651A>C; p.H884P; 19:11021759-11021759	central_nervous_system; brainstem	primitive_neuroectodermal_tumour-medulloblastoma; WNT_subtype	Substitution - Missense
c.2005G>A; p.E669K; 19:11007905-11007905	skin	malignant_melanoma	Substitution - Missense
c.2952C>G; p.V984V; 19:11023610-11023610	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.455delC; p.P153fs*150; 19:10986288-10986288	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2275-1G>T; p.?; 19:11012948-11012948	ovary	carcinoma; small_cell_carcinoma	Unknown
c.2756C>T; p.P919L; 19:11021864-11021864	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4051G>A; p.D1351N; 19:11035013-11035013	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4051G>A; p.D1351N; 19:11035013-11035013	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2986A>T; p.I996F; 19:11024343-11024343	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2275-1G>T; p.?; 19:11012948-11012948	breast	carcinoma	Unknown
c.3631G>A; p.E1211K; 19:11033374-11033374	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2896C>T; p.R966W; 19:11023554-11023554	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2896C>T; p.R966W; 19:11023554-11023554	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4823G>A; p.R1608Q; 19:11060099-11060099	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2896C>T; p.R966W; 19:11023554-11023554	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.35C>T; p.P12L; 19:10984186-10984186	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2896C>T; p.R966W; 19:11023554-11023554	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4113C>T; p.S1371S; 19:11035075-11035075	skin; arm	malignant_melanoma	Substitution - coding silent
c.3922C>T; p.R1308W; 19:11034171-11034171	pancreas	carcinoma	Substitution - Missense
c.3531C>A; p.D1177E; 19:11030878-11030878	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2918G>A; p.R973Q; 19:11023576-11023576	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3922C>T; p.R1308W; 19:11034171-11034171	pancreas	carcinoma	Substitution - Missense
c.2918G>A; p.R973Q; 19:11023576-11023576	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.2918G>A; p.R973Q; 19:11023576-11023576	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Burkitt_lymphoma	Substitution - Missense
c.2717G>T; p.R906L; 19:11021825-11021825	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2918G>A; p.R973Q; 19:11023576-11023576	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.3531C>A; p.D1177E; 19:11030878-11030878	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2372C>T; p.A791V; 19:11013046-11013046	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2932C>T; p.R978*; 19:11023590-11023590	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2932C>T; p.R978*; 19:11023590-11023590	liver	carcinoma	Substitution - Nonsense
c.2932C>T; p.R978*; 19:11023590-11023590	ovary	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1018G>A; p.A340T; 19:10987824-10987824	central_nervous_system; brain	glioma	Substitution - Missense
c.2239G>A; p.A747T; 19:11010496-11010496	kidney	Wilms_tumour	Substitution - Missense
c.2166G>T; p.Q722H; 19:11010423-11010423	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1659C>G; p.L553L; 19:10996278-10996278	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1659C>G; p.L553L; 19:10996278-10996278	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.2932C>T; p.R978*; 19:11023590-11023590	liver	carcinoma	Substitution - Nonsense
c.1548G>A; p.K516K; 19:10994956-10994956	skin	malignant_melanoma	Substitution - coding silent
c.2439-2A>T; p.?; 19:11018955-11018955	ovary	carcinoma; small_cell_carcinoma	Unknown
c.4936G>A; p.E1646K; 19:11061808-11061808	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2439-2A>T; p.?; 19:11018955-11018955	ovary	carcinoma; small_cell_carcinoma	Unknown
c.4146A>G; p.S1382S; 19:11035108-11035108	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.359_360insC; p.S122fs*7; 19:10986192-10986193	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3147C>T; p.P1049P; 19:11025487-11025487	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - coding silent
c.2713C>T; p.R905C; 19:11021821-11021821	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1326_1326delC; p.S442fs*59; 19:10991230-10991230	ovary	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.2743C>T; p.Q915*; 19:11021851-11021851	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1810G>A; p.E604K; 19:10996542-10996542	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3702C>A; p.F1234L; 19:11033445-11033445	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3636G>C; p.E1212D; 19:11033379-11033379	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3351G>A; p.A1117A; 19:11027919-11027919	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.564G>A; p.K188K; 19:10986397-10986397	skin	malignant_melanoma	Substitution - coding silent
c.1147C>T; p.Q383*; 19:10989345-10989345	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1761+2T>A; p.?; 19:10996382-10996382	ovary	carcinoma; small_cell_carcinoma	Unknown
c.1426C>G; p.L476V; 19:10994834-10994834	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.666A>C; p.P222P; 19:10986499-10986499	pancreas	carcinoma	Substitution - coding silent
c.2354A>G; p.K785R; 19:11013028-11013028	skin	malignant_melanoma	Substitution - Missense
c.4600C>A; p.Q1534K; 19:11058854-11058854	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.2581G>A; p.E861K; 19:11019666-11019666	skin	malignant_melanoma	Substitution - Missense
c.1626_1626delC; p.I542fs*71; 19:10996245-10996245	ovary	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.4034C>T; p.S1345L; 19:11034996-11034996	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2581G>A; p.E861K; 19:11019666-11019666	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3059A>G; p.D1020G; 19:11024416-11024416	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1926G>C; p.W642C; 19:11003142-11003142	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1926G>C; p.W642C; 19:11003142-11003142	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1252C>T; p.Q418*; 19:10991156-10991156	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1757A>G; p.K586R; 19:10996376-10996376	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3324C>A; p.L1108L; 19:11027892-11027892	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3324C>A; p.L1108L; 19:11027892-11027892	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4030C>T; p.P1344S; 19:11034992-11034992	skin	malignant_melanoma	Substitution - Missense
c.4090G>A; p.E1364K; 19:11035052-11035052	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1864G>A; p.V622M; 19:11003080-11003080	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.2655C>G; p.R885R; 19:11021763-11021763	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4030C>T; p.P1344S; 19:11034992-11034992	skin	malignant_melanoma	Substitution - Missense
c.2184_2206del23; p.Q729fs*4; 19:11010441-11010463	ovary	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.2184_2206del23; p.Q729fs*4; 19:11010441-11010463	lung	carcinoma	Deletion - Frameshift
c.2184_2206del23; p.Q729fs*4; 19:11010441-11010463	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3500C>T; p.S1167L; 19:11030847-11030847	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1812+1G>T; p.?; 19:10996545-10996545	lung	carcinoma; adenocarcinoma	Unknown
c.272A>G; p.N91S; 19:10985322-10985322	central_nervous_system; brain	glioma	Substitution - Missense
c.3676C>T; p.Q1226*; 19:11033419-11033419	ovary	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.2008G>T; p.E670*; 19:11007908-11007908	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1420G>T; p.E474*; 19:10994828-10994828	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1803G>A; p.P601P; 19:10996535-10996535	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1906G>A; p.A636T; 19:11003122-11003122	pancreas	carcinoma	Substitution - Missense
c.3526A>T; p.S1176C; 19:11030873-11030873	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1666C>T; p.Q556*; 19:10996285-10996285	liver	carcinoma	Substitution - Nonsense
c.2897G>A; p.R966Q; 19:11023555-11023555	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.4232G>A; p.R1411Q; 19:11041368-11041368	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1666C>T; p.Q556*; 19:10996285-10996285	liver	carcinoma	Substitution - Nonsense
c.3496C>T; p.Q1166*; 19:11030843-11030843	ovary	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1593+2T>C; p.?; 19:10995003-10995003	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Burkitt_lymphoma	Unknown
c.365C>T; p.S122L; 19:10986198-10986198	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3724G>T; p.E1242*; 19:11033467-11033467	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Nonsense
c.3496C>T; p.Q1166*; 19:11030843-11030843	ovary	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.2936G>T; p.R979L; 19:11023594-11023594	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3230G>T; p.R1077L; 19:11027798-11027798	thyroid	carcinoma; medullary_carcinoma	Substitution - Missense
c.2738C>A; p.P913Q; 19:11021846-11021846	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2357C>A; p.T786N; 19:11013031-11013031	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2444T>C; p.L815P; 19:11018962-11018962	pancreas	carcinoma	Substitution - Missense
c.1207G>A; p.E403K; 19:10989405-10989405	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2877G>A; p.E959E; 19:11023535-11023535	skin	malignant_melanoma	Substitution - coding silent
c.2444T>C; p.L815P; 19:11018962-11018962	pancreas	carcinoma	Substitution - Missense
c.3557C>T; p.A1186V; 19:11033300-11033300	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3557C>T; p.A1186V; 19:11033300-11033300	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3557C>T; p.A1186V; 19:11033300-11033300	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3557C>T; p.A1186V; 19:11033300-11033300	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3557C>T; p.A1186V; 19:11033300-11033300	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.4328G>A; p.R1443H; 19:11041464-11041464	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1427T>C; p.L476P; 19:10994835-10994835	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1615C>T; p.R539C; 19:10996234-10996234	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.805delC; p.M272fs*31; 19:10986949-10986949	lung	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.805delC; p.M272fs*31; 19:10986949-10986949	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3731G>C; p.R1244P; 19:11033474-11033474	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.4887T>C; p.D1629D; 19:11060163-11060163	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4887T>C; p.D1629D; 19:11060163-11060163	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4343C>T; p.A1448V; 19:11041479-11041479	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4887T>C; p.D1629D; 19:11060163-11060163	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3574C>G; p.R1192G; 19:11033317-11033317	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.4887T>C; p.D1629D; 19:11060163-11060163	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3574C>G; p.R1192G; 19:11033317-11033317	liver	carcinoma	Substitution - Missense
c.4267A>G; p.T1423A; 19:11041403-11041403	haematopoietic_and_lymphoid_tissue; pharynx	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.4838G>A; p.R1613Q; 19:11060114-11060114	breast	carcinoma	Substitution - Missense
c.3546+1G>T; p.?; 19:11030894-11030894	ovary	carcinoma; small_cell_carcinoma	Unknown
c.499C>G; p.R167G; 19:10986332-10986332	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2915T>C; p.L972P; 19:11023573-11023573	ovary	carcinoma; small_cell_carcinoma	Substitution - Missense
c.499C>G; p.R167G; 19:10986332-10986332	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3538C>T; p.P1180S; 19:11030885-11030885	skin	malignant_melanoma	Substitution - Missense
c.2505+2T>C; p.?; 19:11019025-11019025	lung	carcinoma; adenocarcinoma	Unknown
c.3002C>A; p.S1001Y; 19:11024359-11024359	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1428C>A; p.L476L; 19:10994836-10994836	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.3811T>C; p.F1271L; 19:11033803-11033803	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.811G>A; p.G271R; 19:10986955-10986955	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.400G>A; p.V134I; 19:10986233-10986233	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1343G>A; p.R448H; 19:10991247-10991247	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.223-1G>T; p.?; 19:10985272-10985272	upper_aerodigestive_tract; mouth	carcinoma	Unknown
c.3481_3481delC; p.L1161fs*3; 19:11030828-11030828	ovary	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.830C>A; p.P277H; 19:10986974-10986974	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.223-1G>T; p.?; 19:10985272-10985272	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Unknown
c.4801C>T; p.R1601W; 19:11060077-11060077	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1426C>T; p.L476F; 19:10994834-10994834	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4801C>T; p.R1601W; 19:11060077-11060077	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.590C>A; p.P197H; 19:10986423-10986423	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3830C>T; p.P1277L; 19:11033822-11033822	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3834A>G; p.P1278P; 19:11033826-11033826	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1524T>C; p.H508H; 19:10994932-10994932	thyroid	other; neoplasm	Substitution - coding silent
c.2988delC; p.K997fs*22; 19:11024345-11024345	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3830C>T; p.P1277L; 19:11033822-11033822	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1524T>C; p.H508H; 19:10994932-10994932	thyroid	other; neoplasm	Substitution - coding silent
c.2438+1_2438+2insTGA; p.?; 19:11013113-11013114	ovary	carcinoma; small_cell_carcinoma	Unknown
c.4559G>A; p.R1520H; 19:11058813-11058813	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2651A>G; p.H884R; 19:11021759-11021759	central_nervous_system; brain	glioma	Substitution - Missense
c.2016G>A; p.E672E; 19:11007916-11007916	liver	carcinoma	Substitution - coding silent
c.2897G>T; p.R966L; 19:11023555-11023555	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1975G>T; p.E659*; 19:11003371-11003371	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2344G>A; p.G782S; 19:11013018-11013018	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2507G>A; p.G836E; 19:11019592-11019592	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3357C>T; p.R1119R; 19:11027925-11027925	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1616G>A; p.R539H; 19:10996235-10996235	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1599A>C; p.E533D; 19:10996218-10996218	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3565C>T; p.R1189*; 19:11033308-11033308	ovary	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.3373A>G; p.R1125G; 19:11027941-11027941	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4007G>A; p.R1336H; 19:11034969-11034969	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4007G>A; p.R1336H; 19:11034969-11034969	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.194C>T; p.P65L; 19:10984345-10984345	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1142G>A; p.R381Q; 19:10989340-10989340	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1142G>A; p.R381Q; 19:10989340-10989340	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.322delC; p.P109fs*194; 19:10985372-10985372	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2788C>T; p.P930S; 19:11021896-11021896	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1142G>A; p.R381Q; 19:10989340-10989340	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3358G>A; p.G1120S; 19:11027926-11027926	ovary	other; neoplasm	Substitution - Missense
c.4692C>T; p.I1564I; 19:11059809-11059809	skin	malignant_melanoma	Substitution - coding silent
c.4403C>T; p.A1468V; 19:11041539-11041539	skin	malignant_melanoma	Substitution - Missense
c.2789C>T; p.P930L; 19:11021897-11021897	thyroid	carcinoma	Substitution - Missense
c.4403C>T; p.A1468V; 19:11041539-11041539	skin	malignant_melanoma	Substitution - Missense
c.1781G>C; p.G594A; 19:10996513-10996513	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3553C>A; p.Q1185K; 19:11033296-11033296	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1943+2T>G; p.?; 19:11003161-11003161	breast	carcinoma	Unknown
c.4148T>C; p.L1383P; 19:11035110-11035110	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4635G>T; p.L1545L; 19:11058889-11058889	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1940C>T; p.P647L; 19:11003156-11003156	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1940C>T; p.P647L; 19:11003156-11003156	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3247G>T; p.E1083*; 19:11027815-11027815	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.168C>T; p.I56I; 19:10984319-10984319	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1677_1761del85; p.?; 19:10996296-10996380	lung	carcinoma	Unknown
c.1677_1761del85; p.?; 19:10996296-10996380	prostate	carcinoma; adenocarcinoma	Unknown
c.2432C>G; p.P811R; 19:11013106-11013106	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1687_1700del14; p.N563fs*83; 19:10996306-10996319	ovary	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.2129_2129delC; p.K711fs*63; 19:11010386-11010386	ovary	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.4233G>A; p.R1411R; 19:11041369-11041369	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3918C>T; p.I1306I; 19:11034167-11034167	skin	malignant_melanoma	Substitution - coding silent
c.3350C>T; p.A1117V; 19:11027918-11027918	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3144C>T; p.H1048H; 19:11025484-11025484	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2457G>A; p.A819A; 19:11018975-11018975	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2011G>T; p.E671*; 19:11007911-11007911	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2343G>T; p.M781I; 19:11013017-11013017	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3586C>T; p.Q1196*; 19:11033329-11033329	pancreas	NS	Substitution - Nonsense
c.3236C>T; p.S1079L; 19:11027804-11027804	pancreas	carcinoma	Substitution - Missense
c.2457G>A; p.A819A; 19:11018975-11018975	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2900G>A; p.R967H; 19:11023558-11023558	breast	carcinoma	Substitution - Missense
c.2439A>C; p.S813S; 19:11018957-11018957	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3277C>T; p.R1093*; 19:11027845-11027845	ovary	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.2646A>T; p.E882D; 19:11021754-11021754	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.326C>T; p.P109L; 19:10985376-10985376	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4367C>T; p.P1456L; 19:11041503-11041503	skin	malignant_melanoma	Substitution - Missense
c.1889G>C; p.G630A; 19:11003105-11003105	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.3277C>T; p.R1093*; 19:11027845-11027845	ovary	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.3502G>C; p.A1168P; 19:11030849-11030849	central_nervous_system; brain	glioma	Substitution - Missense
c.3277C>T; p.R1093*; 19:11027845-11027845	ovary	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.3529G>T; p.D1177Y; 19:11030876-11030876	pancreas	carcinoma	Substitution - Missense
c.2059A>G; p.K687E; 19:11007959-11007959	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4005G>A; p.P1335P; 19:11034967-11034967	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.2059A>G; p.K687E; 19:11007959-11007959	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4005G>A; p.P1335P; 19:11034967-11034967	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2735C>A; p.T912K; 19:11021843-11021843	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; large_cell	Substitution - Missense
c.4617C>T; p.F1539F; 19:11058871-11058871	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4200C>T; p.I1400I; 19:11041336-11041336	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4403C>G; p.A1468G; 19:11041539-11041539	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1839C>T; p.S613S; 19:11003055-11003055	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.4200C>T; p.I1400I; 19:11041336-11041336	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3557C>G; p.A1186G; 19:11033300-11033300	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2653C>T; p.R885C; 19:11021761-11021761	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3005C>T; p.A1002V; 19:11024362-11024362	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2653C>T; p.R885C; 19:11021761-11021761	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.254C>T; p.S85L; 19:10985304-10985304	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2653C>T; p.R885C; 19:11021761-11021761	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2653C>T; p.R885C; 19:11021761-11021761	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2653C>T; p.R885C; 19:11021761-11021761	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2653C>T; p.R885C; 19:11021761-11021761	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.254C>T; p.S85L; 19:10985304-10985304	breast	carcinoma	Substitution - Missense
c.3005C>T; p.A1002V; 19:11024362-11024362	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2653C>T; p.R885C; 19:11021761-11021761	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1208A>G; p.E403G; 19:10989406-10989406	ovary	carcinoma	Substitution - Missense
c.2351G>A; p.G784E; 19:11013025-11013025	skin; mucosal	malignant_melanoma	Substitution - Missense
c.4870C>T; p.P1624S; 19:11060146-11060146	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4023C>T; p.D1341D; 19:11034985-11034985	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2290T>A; p.W764R; 19:11012964-11012964	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.2290T>A; p.W764R; 19:11012964-11012964	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.2290T>A; p.W764R; 19:11012964-11012964	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1111G>A; p.E371K; 19:10987917-10987917	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4543C>T; p.R1515C; 19:11058797-11058797	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1881C>T; p.I627I; 19:11003097-11003097	skin	malignant_melanoma	Substitution - coding silent
c.3598C>T; p.R1200C; 19:11033341-11033341	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4471C>T; p.R1491*; 19:11058301-11058301	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Nonsense
c.3727C>T; p.R1243W; 19:11033470-11033470	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.3727C>T; p.R1243W; 19:11033470-11033470	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3727C>T; p.R1243W; 19:11033470-11033470	pancreas	carcinoma	Substitution - Missense
c.4471C>T; p.R1491*; 19:11058301-11058301	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.3727C>T; p.R1243W; 19:11033470-11033470	pancreas	carcinoma	Substitution - Missense
c.3203G>A; p.G1068D; 19:11026334-11026334	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4505G>A; p.R1502H; 19:11058335-11058335	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3727C>T; p.R1243W; 19:11033470-11033470	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.3727C>T; p.R1243W; 19:11033470-11033470	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Missense
c.3727C>T; p.R1243W; 19:11033470-11033470	pancreas	carcinoma	Substitution - Missense
c.3058G>T; p.D1020Y; 19:11024415-11024415	central_nervous_system; brain	glioma	Substitution - Missense
c.3727C>T; p.R1243W; 19:11033470-11033470	pancreas	carcinoma	Substitution - Missense
c.4471C>T; p.R1491*; 19:11058301-11058301	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2245_2246insA; p.M749fs*75; 19:11010502-11010503	ovary	carcinoma; small_cell_carcinoma	Insertion - Frameshift
c.4602G>C; p.Q1534H; 19:11058856-11058856	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3813C>T; p.F1271F; 19:11033805-11033805	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - coding silent
c.1557C>T; p.N519N; 19:10994965-10994965	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1027_1027delG; p.V343fs*68; 19:10987833-10987833	ovary	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.1756A>T; p.K586*; 19:10996375-10996375	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3293A>G; p.K1098R; 19:11027861-11027861	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.451G>A; p.G151S; 19:10986284-10986284	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3699G>A; p.M1233I; 19:11033442-11033442	skin	malignant_melanoma	Substitution - Missense
c.3699G>A; p.M1233I; 19:11033442-11033442	skin	malignant_melanoma	Substitution - Missense
c.3436G>A; p.G1146S; 19:11030783-11030783	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2225T>C; p.V742A; 19:11010482-11010482	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2260C>T; p.L754F; 19:11010517-11010517	skin	malignant_melanoma	Substitution - Missense
c.4775C>T; p.S1592F; 19:11060051-11060051	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4617C>G; p.F1539L; 19:11058871-11058871	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1352G>A; p.R451H; 19:10991256-10991256	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.3831G>A; p.P1277P; 19:11033823-11033823	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2080G>T; p.D694Y; 19:11007980-11007980	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.37C>T; p.R13W; 19:10984188-10984188	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1733_1761+40del69; p.?; 19:10996352-10996420	lung	carcinoma	Unknown
c.2290T>C; p.W764R; 19:11012964-11012964	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3257A>G; p.D1086G; 19:11027825-11027825	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3168+1G>C; p.?; 19:11025509-11025509	ovary	carcinoma; small_cell_carcinoma	Unknown
c.3546+1G>A; p.?; 19:11030894-11030894	ovary	carcinoma; small_cell_carcinoma	Unknown
c.4208A>G; p.E1403G; 19:11041344-11041344	skin	malignant_melanoma	Substitution - Missense
c.2576C>T; p.T859M; 19:11019661-11019661	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.34C>T; p.P12S; 19:10984185-10984185	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2461G>A; p.E821K; 19:11018979-11018979	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; desmoplastic	Substitution - Missense
c.2222G>A; p.R741K; 19:11010479-11010479	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2461G>A; p.E821K; 19:11018979-11018979	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2461G>A; p.E821K; 19:11018979-11018979	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.4735G>T; p.E1579*; 19:11059852-11059852	breast	carcinoma	Substitution - Nonsense
c.4177G>A; p.E1393K; 19:11041313-11041313	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2461G>A; p.E821K; 19:11018979-11018979	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1525G>T; p.A509S; 19:10994933-10994933	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2461G>A; p.E821K; 19:11018979-11018979	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2461G>A; p.E821K; 19:11018979-11018979	central_nervous_system; brainstem	primitive_neuroectodermal_tumour-medulloblastoma; WNT_subtype	Substitution - Missense
c.2461G>A; p.E821K; 19:11018979-11018979	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1917_1918GG>CT; p.L639>?; 19:11003133-11003134	lung	carcinoma; adenocarcinoma	Complex
c.3487C>G; p.L1163V; 19:11030834-11030834	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1405C>T; p.R469W; 19:10991309-10991309	kidney	Wilms_tumour	Substitution - Missense
c.3998G>A; p.R1333Q; 19:11034960-11034960	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2428G>A; p.V810M; 19:11013102-11013102	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3082-1G>T; p.?; 19:11025421-11025421	lung; right_lower_lobe	carcinoma; adenocarcinoma	Unknown
c.2995G>A; p.D999N; 19:11024352-11024352	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1146T>C; p.I382I; 19:10989344-10989344	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3547-2A>G; p.?; 19:11033288-11033288	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.1396C>T; p.R466C; 19:10991300-10991300	pituitary; craniopharyngeal_duct	craniopharyngioma; adamantinomatous	Substitution - Missense
c.1166C>T; p.P389L; 19:10989364-10989364	skin	malignant_melanoma	Substitution - Missense
c.3703G>T; p.D1235Y; 19:11033446-11033446	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.3348T>C; p.F1116F; 19:11027916-11027916	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2650C>A; p.H884N; 19:11021758-11021758	central_nervous_system; brain	glioma	Substitution - Missense
c.3703G>T; p.D1235Y; 19:11033446-11033446	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.2917C>T; p.R973W; 19:11023575-11023575	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2917C>T; p.R973W; 19:11023575-11023575	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Burkitt_lymphoma	Substitution - Missense
c.2967C>T; p.P989P; 19:11023625-11023625	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1757_1757delA; p.K586fs*27; 19:10996376-10996376	ovary	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.4101C>T; p.F1367F; 19:11035063-11035063	skin	malignant_melanoma	Substitution - coding silent
c.4412A>G; p.K1471R; 19:11041548-11041548	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2917C>T; p.R973W; 19:11023575-11023575	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.169delC; p.T58fs*36; 19:10984320-10984320	lung	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.2506G>T; p.G836*; 19:11019591-11019591	ovary	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.3165C>T; p.I1055I; 19:11025505-11025505	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.805_806delCC; p.P270fs*16; 19:10986949-10986950	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1378C>T; p.Q460*; 19:10991282-10991282	ovary	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.3574C>T; p.R1192C; 19:11033317-11033317	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3481C>T; p.L1161F; 19:11030828-11030828	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3244_3244delT; p.F1082fs*24; 19:11027812-11027812	ovary	carcinoma	Deletion - Frameshift
c.3574C>T; p.R1192C; 19:11033317-11033317	central_nervous_system; brain	glioma	Substitution - Missense
c.3574C>T; p.R1192C; 19:11033317-11033317	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.355+1G>T; p.?; 19:10985406-10985406	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.4112C>A; p.S1371Y; 19:11035074-11035074	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4636-1G>C; p.?; 19:11059752-11059752	pancreas	NS	Unknown
c.2539C>T; p.Q847*; 19:11019624-11019624	ovary	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.2539C>T; p.Q847*; 19:11019624-11019624	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3440C>T; p.S1147F; 19:11030787-11030787	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3850G>A; p.D1284N; 19:11033842-11033842	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1917G>T; p.L639L; 19:11003133-11003133	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.4252G>A; p.D1418N; 19:11041388-11041388	skin	malignant_melanoma	Substitution - Missense
c.2635A>G; p.I879V; 19:11021743-11021743	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1948G>C; p.E650Q; 19:11003344-11003344	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1350C>T; p.A450A; 19:10991254-10991254	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1948G>C; p.E650Q; 19:11003344-11003344	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1750A>T; p.K584*; 19:10996369-10996369	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1199C>T; p.A400V; 19:10989397-10989397	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2319G>T; p.L773L; 19:11012993-11012993	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1889G>A; p.G630D; 19:11003105-11003105	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2079A>C; p.P693P; 19:11007979-11007979	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3896_3907del12; p.E1300_N1303del; 19:11034145-11034156	ovary	carcinoma; small_cell_carcinoma	Deletion - In frame
c.3993_3993delC; p.K1332fs*26; 19:11034955-11034955	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.4511C>T; p.P1504L; 19:11058341-11058341	skin	malignant_melanoma	Substitution - Missense
c.2402G>A; p.R801H; 19:11013076-11013076	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3092G>T; p.G1031V; 19:11025432-11025432	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4188G>A; p.T1396T; 19:11041324-11041324	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4698_4699GG>TT; p.K1566_E1567>N*; 19:11059815-11059816	lung	carcinoma; adenocarcinoma	Complex - compound substitution
c.2695A>G; p.T899A; 19:11021803-11021803	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3306C>G; p.F1102L; 19:11027874-11027874	ovary	carcinoma; clear_cell_carcinoma	Substitution - Missense
c.500G>A; p.R167Q; 19:10986333-10986333	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3306C>G; p.F1102L; 19:11027874-11027874	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1756_1758delAAG; p.K588delK; 19:10996375-10996377	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; cortisol_producing	Deletion - In frame
c.2697G>A; p.T899T; 19:11021805-11021805	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4436G>A; p.R1479H; 19:11058266-11058266	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2085C>T; p.S695S; 19:11007985-11007985	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3801C>A; p.G1267G; 19:11033793-11033793	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1386C>T; p.I462I; 19:10991290-10991290	skin	malignant_melanoma	Substitution - coding silent
c.2455G>A; p.A819T; 19:11018973-11018973	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2855_2855delA; p.K953fs*4; 19:11021963-11021963	ovary	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.561C>G; p.Y187*; 19:10986394-10986394	ovary	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1813-2A>G; p.?; 19:11003027-11003027	oesophagus	carcinoma; adenocarcinoma	Unknown
c.2049_2049delC; p.V684fs*90; 19:11007949-11007949	ovary	carcinoma	Deletion - Frameshift
c.4062G>A; p.V1354V; 19:11035024-11035024	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1674C>T; p.D558D; 19:10996293-10996293	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2190_2191insG; p.Y731fs*10; 19:11010447-11010448	ovary	carcinoma; small_cell_carcinoma	Insertion - Frameshift
c.3315G>T; p.M1105I; 19:11027883-11027883	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2641G>A; p.D881N; 19:11021749-11021749	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.2758G>A; p.E920K; 19:11021866-11021866	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3146C>T; p.P1049L; 19:11025486-11025486	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - Missense
c.52C>T; p.P18S; 19:10984203-10984203	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2758G>A; p.E920K; 19:11021866-11021866	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.66T>A; p.P22P; 19:10984217-10984217	skin	malignant_melanoma	Substitution - coding silent
c.2758G>A; p.E920K; 19:11021866-11021866	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4738G>T; p.E1580*; 19:11059855-11059855	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1860C>T; p.I620I; 19:11003076-11003076	breast	carcinoma	Substitution - coding silent
c.2376C>T; p.L792L; 19:11013050-11013050	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1466A>G; p.Y489C; 19:10994874-10994874	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3254_3270del17; p.L1085fs*32; 19:11027822-11027838	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3278G>A; p.R1093Q; 19:11027846-11027846	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1060C>T; p.P354S; 19:10987866-10987866	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3967C>T; p.R1323C; 19:11034929-11034929	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4687_4687delA; p.I1564fs*32; 19:11059804-11059804	ovary	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.3186C>G; p.H1062Q; 19:11026317-11026317	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.2920C>T; p.P974S; 19:11023578-11023578	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.3484G>T; p.G1162C; 19:11030831-11030831	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2287_2288insG; p.E763fs*61; 19:11012961-11012962	ovary	carcinoma; small_cell_carcinoma	Insertion - Frameshift
c.513A>G; p.P171P; 19:10986346-10986346	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.3426C>A; p.F1142L; 19:11030773-11030773	breast	carcinoma	Substitution - Missense
c.513A>G; p.P171P; 19:10986346-10986346	liver	carcinoma	Substitution - coding silent
c.2294T>G; p.L765R; 19:11012968-11012968	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.513A>G; p.P171P; 19:10986346-10986346	liver	carcinoma	Substitution - coding silent
c.3713C>T; p.S1238F; 19:11033456-11033456	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3610C>T; p.L1204F; 19:11033353-11033353	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.3359G>T; p.G1120V; 19:11027927-11027927	ovary	other; neoplasm	Substitution - Missense
c.3610C>T; p.L1204F; 19:11033353-11033353	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.3713C>T; p.S1238F; 19:11033456-11033456	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.98G>A; p.G33D; 19:10984249-10984249	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3374G>T; p.R1125M; 19:11027942-11027942	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3857_3858AG>CA; p.E1286A; 19:11033849-11033850	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.991C>T; p.Q331*; 19:10987797-10987797	ovary	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1419+5G>T; p.?; 19:10991328-10991328	pancreas	carcinoma; ductal_carcinoma	Unknown
c.1419+5G>T; p.?; 19:10991328-10991328	pancreas	carcinoma; ductal_carcinoma	Unknown
c.991C>T; p.Q331*; 19:10987797-10987797	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2838_2838delC; p.F947fs*3; 19:11021946-11021946	ovary	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.3580G>T; p.G1194W; 19:11033323-11033323	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.957A>C; p.P319P; 19:10987763-10987763	pancreas	carcinoid-endocrine_tumour	Substitution - coding silent
c.3694G>T; p.G1232C; 19:11033437-11033437	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma	Substitution - Missense
c.1562G>C; p.R521P; 19:10994970-10994970	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3694G>T; p.G1232C; 19:11033437-11033437	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2298G>A; p.V766V; 19:11012972-11012972	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3694G>T; p.G1232C; 19:11033437-11033437	central_nervous_system; brainstem	primitive_neuroectodermal_tumour-medulloblastoma; WNT_subtype	Substitution - Missense
c.3694G>A; p.G1232S; 19:11033437-11033437	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3565C>G; p.R1189G; 19:11033308-11033308	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.2687T>A; p.V896E; 19:11021795-11021795	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3694G>A; p.G1232S; 19:11033437-11033437	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3694G>A; p.G1232S; 19:11033437-11033437	pancreas	carcinoma	Substitution - Missense
c.3694G>A; p.G1232S; 19:11033437-11033437	pancreas	carcinoma	Substitution - Missense
c.3694G>A; p.G1232S; 19:11033437-11033437	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3694G>A; p.G1232S; 19:11033437-11033437	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.2682G>A; p.T894T; 19:11021790-11021790	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3694G>A; p.G1232S; 19:11033437-11033437	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.3694G>A; p.G1232S; 19:11033437-11033437	pancreas	carcinoma	Substitution - Missense
c.3523G>A; p.D1175N; 19:11030870-11030870	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3547G>A; p.D1183N; 19:11033290-11033290	pancreas	carcinoma	Substitution - Missense
c.2933G>A; p.R978Q; 19:11023591-11023591	skin	malignant_melanoma	Substitution - Missense
c.3157delC; p.Q1053fs*53; 19:11025497-11025497	skin; axilla	malignant_melanoma	Deletion - Frameshift
c.2933G>A; p.R978Q; 19:11023591-11023591	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4243C>T; p.R1415*; 19:11041379-11041379	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4226C>A; p.S1409*; 19:11041362-11041362	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3403C>T; p.R1135W; 19:11030750-11030750	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.729delC; p.P244fs*59; 19:10986562-10986562	pancreas	carcinoma; ductal_carcinoma	Deletion - Frameshift
c.3403C>T; p.R1135W; 19:11030750-11030750	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3403C>T; p.R1135W; 19:11030750-11030750	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1842C>T; p.D614D; 19:11003058-11003058	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1121T>C; p.L374P; 19:10989319-10989319	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3229C>T; p.R1077*; 19:11027797-11027797	pancreas	NS	Substitution - Nonsense
c.3229C>T; p.R1077*; 19:11027797-11027797	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.2654G>A; p.R885H; 19:11021762-11021762	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2439-1G>A; p.?; 19:11018956-11018956	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.2654G>A; p.R885H; 19:11021762-11021762	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2440A>G; p.T814A; 19:11018958-11018958	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3306C>A; p.F1102L; 19:11027874-11027874	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.820G>A; p.G274S; 19:10986964-10986964	skin	malignant_melanoma	Substitution - Missense
c.2837C>T; p.P946L; 19:11021945-11021945	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.3478G>C; p.G1160R; 19:11030825-11030825	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1105G>A; p.E369K; 19:10987911-10987911	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1055T>C; p.I352T; 19:10987861-10987861	kidney	other; neoplasm	Substitution - Missense
c.1367T>C; p.L456P; 19:10991271-10991271	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4615T>C; p.F1539L; 19:11058869-11058869	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3424T>G; p.F1142V; 19:11030771-11030771	kidney	other; neoplasm	Substitution - Missense
c.3363_3366delTAAA; p.K1122fs*17; 19:11027931-11027934	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.2207A>G; p.H736R; 19:11010464-11010464	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3424T>G; p.F1142V; 19:11030771-11030771	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3056C>T; p.T1019I; 19:11024413-11024413	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.589C>G; p.P197A; 19:10986422-10986422	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3166G>T; p.E1056*; 19:11025506-11025506	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1130G>A; p.R377H; 19:10989328-10989328	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4270C>T; p.P1424S; 19:11041406-11041406	skin	malignant_melanoma	Substitution - Missense
c.3380A>G; p.D1127G; 19:11027948-11027948	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1907C>T; p.A636V; 19:11003123-11003123	pancreas	carcinoma	Substitution - Missense
c.3304T>C; p.F1102L; 19:11027872-11027872	pancreas	carcinoma	Substitution - Missense
c.2766G>A; p.W922*; 19:11021874-11021874	ovary	carcinoma	Substitution - Nonsense
c.2521A>C; p.R841R; 19:11019606-11019606	liver	carcinoma	Substitution - coding silent
c.2521A>C; p.R841R; 19:11019606-11019606	liver	carcinoma	Substitution - coding silent
c.4338G>A; p.P1446P; 19:11041474-11041474	breast	carcinoma	Substitution - coding silent
c.3304T>C; p.F1102L; 19:11027872-11027872	central_nervous_system; brainstem	primitive_neuroectodermal_tumour-medulloblastoma; WNT_subtype	Substitution - Missense
c.4338G>A; p.P1446P; 19:11041474-11041474	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3304T>C; p.F1102L; 19:11027872-11027872	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1183G>T; p.D395Y; 19:10989381-10989381	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.3493C>T; p.L1165F; 19:11030840-11030840	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3493C>T; p.L1165F; 19:11030840-11030840	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4675_4678delAGCG; p.S1559fs*36; 19:11059792-11059795	ovary	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.2362C>T; p.Q788*; 19:11013036-11013036	ovary	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1590C>G; p.L530L; 19:10994998-10994998	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.233_237CCATG>ACC; p.S78fs*3; 19:10985283-10985287	ovary	carcinoma; small_cell_carcinoma	Complex - frameshift
c.2781C>T; p.F927F; 19:11021889-11021889	skin	malignant_melanoma	Substitution - coding silent
c.829C>T; p.P277S; 19:10986973-10986973	skin	malignant_melanoma	Substitution - Missense
c.3702C>G; p.F1234L; 19:11033445-11033445	central_nervous_system; brain	glioma	Substitution - Missense
c.1458C>G; p.F486L; 19:10994866-10994866	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2441C>A; p.T814K; 19:11018959-11018959	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.995_996CC>TT; p.S332F; 19:10987801-10987802	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2989delA; p.K997fs*22; 19:11024346-11024346	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.130G>A; p.G44R; 19:10984281-10984281	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1216G>A; p.A406T; 19:10989414-10989414	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.809_810delCC; p.P270fs*16; 19:10986953-10986954	lung	carcinoma; non_small_cell_carcinoma	Deletion - Frameshift
c.4852C>T; p.R1618*; 19:11060128-11060128	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1761G>T; p.?; 19:10996380-10996380	prostate	carcinoma; adenocarcinoma	Unknown
c.2859+1G>A; p.?; 19:11021968-11021968	ovary	carcinoma; small_cell_carcinoma	Unknown
c.2729C>T; p.T910M; 19:11021837-11021837	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2729C>T; p.T910M; 19:11021837-11021837	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2729C>T; p.T910M; 19:11021837-11021837	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2729C>T; p.T910M; 19:11021837-11021837	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2729C>T; p.T910M; 19:11021837-11021837	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.2729C>T; p.T910M; 19:11021837-11021837	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3695G>A; p.G1232D; 19:11033438-11033438	central_nervous_system; medulla	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.2729C>T; p.T910M; 19:11021837-11021837	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2729C>T; p.T910M; 19:11021837-11021837	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.538C>T; p.L180F; 19:10986371-10986371	breast	carcinoma	Substitution - Missense
c.2729C>T; p.T910M; 19:11021837-11021837	central_nervous_system; cerebellum	primitive_neuroectodermal_tumour-medulloblastoma; SHH_subtype	Substitution - Missense
c.2729C>T; p.T910M; 19:11021837-11021837	pancreas	carcinoma	Substitution - Missense
c.2729C>T; p.T910M; 19:11021837-11021837	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.2729C>T; p.T910M; 19:11021837-11021837	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.2729C>T; p.T910M; 19:11021837-11021837	pancreas	carcinoma	Substitution - Missense
c.2729C>T; p.T910M; 19:11021837-11021837	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; large_cell	Substitution - Missense
c.2074G>T; p.D692Y; 19:11007974-11007974	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2729C>T; p.T910M; 19:11021837-11021837	pancreas	carcinoma	Substitution - Missense
c.3729_3730delGC; p.A1245fs*13; 19:11033472-11033473	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2729C>T; p.T910M; 19:11021837-11021837	central_nervous_system; medulla	primitive_neuroectodermal_tumour-medulloblastoma; classic	Substitution - Missense
c.1039C>T; p.Q347*; 19:10987845-10987845	lung	carcinoid-endocrine_tumour; atypical	Substitution - Nonsense
c.4315A>C; p.K1439Q; 19:11041451-11041451	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2620C>T; p.R874C; 19:11021728-11021728	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4557C>T; p.Y1519Y; 19:11058811-11058811	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2620C>T; p.R874C; 19:11021728-11021728	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4410C>T; p.I1470I; 19:11041546-11041546	skin	malignant_melanoma	Substitution - coding silent
c.2738C>T; p.P913L; 19:11021846-11021846	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3475G>T; p.G1159W; 19:11030822-11030822	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4089_4090GG>TT; p.E1363_E1364>D*; 19:11035051-11035052	lung	carcinoma; adenocarcinoma	Complex - compound substitution
c.2620C>T; p.R874C; 19:11021728-11021728	skin	malignant_melanoma	Substitution - Missense
c.1135G>A; p.A379T; 19:10989333-10989333	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3575G>A; p.R1192H; 19:11033318-11033318	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1135G>A; p.A379T; 19:10989333-10989333	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3575G>A; p.R1192H; 19:11033318-11033318	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2300C>T; p.S767F; 19:11012974-11012974	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3575G>A; p.R1192H; 19:11033318-11033318	central_nervous_system; brain	glioma	Substitution - Missense
c.2300C>T; p.S767F; 19:11012974-11012974	skin; arm	malignant_melanoma	Substitution - Missense
c.3470G>A; p.R1157Q; 19:11030817-11030817	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.3470G>A; p.R1157Q; 19:11030817-11030817	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2578T>C; p.Y860H; 19:11019663-11019663	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3485G>T; p.G1162V; 19:11030832-11030832	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3774+1G>A; p.?; 19:11033518-11033518	pancreas	carcinoma	Unknown
c.1631A>C; p.Q544P; 19:10996250-10996250	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3531_3531delC; p.W1178fs*38; 19:11030878-11030878	ovary	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.589C>T; p.P197S; 19:10986422-10986422	breast	carcinoma	Substitution - Missense
c.3356G>A; p.R1119H; 19:11027924-11027924	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.945_946CC>TT; p.P316S; 19:10987751-10987752	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.793C>T; p.P265S; 19:10986937-10986937	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2484C>G; p.S828S; 19:11019002-11019002	breast	carcinoma	Substitution - coding silent
c.2220G>A; p.E740E; 19:11010477-11010477	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1959G>A; p.P653P; 19:11003355-11003355	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3584A>T; p.Q1195L; 19:11033327-11033327	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1959G>A; p.P653P; 19:11003355-11003355	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4015G>T; p.E1339*; 19:11034977-11034977	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2170C>T; p.L724F; 19:11010427-11010427	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4271C>T; p.P1424L; 19:11041407-11041407	skin; leg	malignant_melanoma	Substitution - Missense
c.4271C>T; p.P1424L; 19:11041407-11041407	skin; leg	malignant_melanoma	Substitution - Missense
c.1141C>T; p.R381*; 19:10989339-10989339	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1141C>T; p.R381*; 19:10989339-10989339	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4170+1G>A; p.?; 19:11035133-11035133	ovary	carcinoma; small_cell_carcinoma	Unknown
c.3539C>A; p.P1180H; 19:11030886-11030886	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3125T>C; p.L1042P; 19:11025465-11025465	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.517A>C; p.N173H; 19:10986350-10986350	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2450_2458delACTGGGCGT; p.W818_Y820delWAY; 19:11018968-11018976	oesophagus	carcinoma; adenocarcinoma	Deletion - In frame
c.3475delG; p.L1161fs*3; 19:11030822-11030822	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4113C>A; p.S1371S; 19:11035075-11035075	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3475delG; p.L1161fs*3; 19:11030822-11030822	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2322C>T; p.N774N; 19:11012996-11012996	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4329C>T; p.R1443R; 19:11041465-11041465	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent

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]