Entrez Gene

Basic Information
Gene ID	1002
Name	CDH4
Synonymous	cadherin 4, type 1, R-cadherin (retinal);CDH4;cadherin 4, type 1, R-cadherin (retinal)
Definition	R-cadherin\|cadherin 4, type 1, preproprotein\|cadherin-4\|retinal cadherin
Position	20q13.3
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 0.04.

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.1366G>A; p.V456M; 20:61910599-61910599	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1887C>T; p.N629N; 20:61928305-61928305	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.137A>G; p.Q46R; 20:61254905-61254905	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1258C>T; p.Q420*; 20:61910491-61910491	lung	carcinoma; bronchioloalveolar_adenocarcinoma	Substitution - Nonsense
c.2491C>A; p.P831T; 20:61934167-61934167	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.545C>T; p.S182L; 20:61773151-61773151	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1855G>A; p.E619K; 20:61928273-61928273	skin	malignant_melanoma	Substitution - Missense
c.380C>T; p.P127L; 20:61743773-61743773	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related	Substitution - Missense
c.380C>T; p.P127L; 20:61743773-61743773	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.152G>A; p.G51E; 20:61254920-61254920	skin; extremity	malignant_melanoma	Substitution - Missense
c.652G>A; p.E218K; 20:61844743-61844743	skin	malignant_melanoma	Substitution - Missense
c.611G>A; p.R204Q; 20:61844702-61844702	central_nervous_system; brain	glioma	Substitution - Missense
c.1702G>A; p.V568M; 20:61924407-61924407	skin	malignant_melanoma	Substitution - Missense
c.611G>A; p.R204Q; 20:61844702-61844702	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1648C>T; p.P550S; 20:61924353-61924353	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1648C>T; p.P550S; 20:61924353-61924353	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.924C>T; p.T308T; 20:61873774-61873774	skin	malignant_melanoma	Substitution - coding silent
c.1648C>T; p.P550S; 20:61924353-61924353	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.2652C>T; p.N884N; 20:61936844-61936844	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2215C>T; p.L739F; 20:61929818-61929818	skin	malignant_melanoma	Substitution - Missense
c.1727C>G; p.T576S; 20:61924432-61924432	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2573C>A; p.T858K; 20:61936765-61936765	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.458T>A; p.L153Q; 20:61773064-61773064	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.399G>A; p.P133P; 20:61773005-61773005	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1755C>T; p.F585F; 20:61924460-61924460	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1605C>A; p.D535E; 20:61923681-61923681	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2408C>T; p.P803L; 20:61934084-61934084	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1113C>G; p.G371G; 20:61894972-61894972	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1605C>A; p.D535E; 20:61923681-61923681	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1467G>A; p.Q489Q; 20:61923543-61923543	breast	carcinoma	Substitution - coding silent
c.977C>A; p.P326Q; 20:61873827-61873827	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2072T>G; p.I691S; 20:61929675-61929675	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1859C>T; p.A620V; 20:61928277-61928277	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.537C>T; p.P179P; 20:61773143-61773143	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1859C>T; p.A620V; 20:61928277-61928277	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1006G>A; p.E336K; 20:61873856-61873856	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1788C>T; p.S596S; 20:61928206-61928206	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1788C>T; p.S596S; 20:61928206-61928206	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1803C>G; p.L601L; 20:61928221-61928221	ovary	other; neoplasm	Substitution - coding silent
c.1803C>G; p.L601L; 20:61928221-61928221	ovary	other; neoplasm	Substitution - coding silent
c.1474G>T; p.A492S; 20:61923550-61923550	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1400C>A; p.A467D; 20:61923476-61923476	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1803C>G; p.L601L; 20:61928221-61928221	ovary	other; neoplasm	Substitution - coding silent
c.2619C>G; p.S873R; 20:61936811-61936811	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2030G>A; p.R677H; 20:61929633-61929633	skin; trunk	malignant_melanoma	Substitution - Missense
c.1558G>T; p.V520L; 20:61923634-61923634	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.467C>T; p.P156L; 20:61773073-61773073	skin	malignant_melanoma	Substitution - Missense
c.735C>G; p.L245L; 20:61852756-61852756	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2458G>C; p.D820H; 20:61934134-61934134	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1907C>T; p.A636V; 20:61928325-61928325	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2051G>A; p.G684E; 20:61929654-61929654	skin	malignant_melanoma	Substitution - Missense
c.508G>A; p.D170N; 20:61773114-61773114	skin	malignant_melanoma	Substitution - Missense
c.500G>A; p.R167H; 20:61773106-61773106	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1849C>T; p.P617S; 20:61928267-61928267	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.580C>T; p.R194W; 20:61844671-61844671	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.580C>T; p.R194W; 20:61844671-61844671	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.584C>T; p.S195F; 20:61844675-61844675	skin; trunk	malignant_melanoma	Substitution - Missense
c.1005C>T; p.S335S; 20:61873855-61873855	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2634C>T; p.G878G; 20:61936826-61936826	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2604C>T; p.F868F; 20:61936796-61936796	pancreas	carcinoma	Substitution - coding silent
c.1607G>A; p.R536Q; 20:61923683-61923683	skin	malignant_melanoma	Substitution - Missense
c.2604C>T; p.F868F; 20:61936796-61936796	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.2424C>T; p.H808H; 20:61934100-61934100	stomach	adenocarcinoma	Substitution - coding silent
c.2677T>C; p.Y893H; 20:61936869-61936869	thyroid	carcinoma	Substitution - Missense
c.2552G>A; p.R851H; 20:61936744-61936744	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.751G>A; p.D251N; 20:61852772-61852772	skin	malignant_melanoma	Substitution - Missense
c.849C>T; p.N283N; 20:61852870-61852870	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1024A>C; p.T342P; 20:61873874-61873874	skin	malignant_melanoma	Substitution - Missense
c.437C>T; p.P146L; 20:61773043-61773043	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.814G>A; p.D272N; 20:61852835-61852835	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.814G>A; p.D272N; 20:61852835-61852835	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1339C>T; p.P447S; 20:61910572-61910572	skin	malignant_melanoma	Substitution - Missense
c.369G>A; p.Q123Q; 20:61743762-61743762	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1075G>A; p.V359I; 20:61894934-61894934	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.331G>A; p.E111K; 20:61743724-61743724	skin	malignant_melanoma	Substitution - Missense
c.636C>T; p.A212A; 20:61844727-61844727	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.881C>T; p.T294I; 20:61873731-61873731	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2464C>T; p.R822W; 20:61934140-61934140	stomach	adenocarcinoma	Substitution - Missense
c.555C>A; p.P185P; 20:61773161-61773161	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.560C>T; p.P187L; 20:61773166-61773166	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.836A>C; p.N279T; 20:61852857-61852857	liver	carcinoma	Substitution - Missense
c.2087G>A; p.G696E; 20:61929690-61929690	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2521G>A; p.D841N; 20:61934197-61934197	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1815C>T; p.L605L; 20:61928233-61928233	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2665G>C; p.G889R; 20:61936857-61936857	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.346G>A; p.V116M; 20:61743739-61743739	pancreas	carcinoma	Substitution - Missense
c.346G>A; p.V116M; 20:61743739-61743739	pancreas	carcinoma	Substitution - Missense
c.346G>A; p.V116M; 20:61743739-61743739	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1967C>T; p.A656V; 20:61928385-61928385	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.619A>G; p.I207V; 20:61844710-61844710	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2646C>T; p.S882S; 20:61936838-61936838	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1216G>A; p.V406M; 20:61910449-61910449	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1216G>A; p.V406M; 20:61910449-61910449	pancreas	carcinoma	Substitution - Missense
c.1575G>T; p.V525V; 20:61923651-61923651	central_nervous_system; brain	glioma	Substitution - coding silent
c.1824C>G; p.I608M; 20:61928242-61928242	prostate	adenoma	Substitution - Missense
c.1137C>A; p.I379I; 20:61894996-61894996	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1212C>T; p.N404N; 20:61910445-61910445	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.580C>A; p.R194R; 20:61844671-61844671	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.398C>T; p.P133L; 20:61773004-61773004	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1558G>A; p.V520M; 20:61923634-61923634	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1558G>A; p.V520M; 20:61923634-61923634	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1558G>A; p.V520M; 20:61923634-61923634	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2554G>A; p.A852T; 20:61936746-61936746	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1212C>T; p.N404N; 20:61910445-61910445	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.1558G>A; p.V520M; 20:61923634-61923634	urinary_tract; bladder	carcinoma	Substitution - Missense
c.926C>T; p.T309M; 20:61873776-61873776	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.671C>G; p.S224C; 20:61844762-61844762	urinary_tract; bladder	carcinoma	Substitution - Missense
c.391C>A; p.H131N; 20:61743784-61743784	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2483C>T; p.P828L; 20:61934159-61934159	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.609C>T; p.I203I; 20:61844700-61844700	skin	malignant_melanoma	Substitution - coding silent
c.1627A>C; p.R543R; 20:61923703-61923703	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.771G>A; p.V257V; 20:61852792-61852792	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.970C>G; p.Q324E; 20:61873820-61873820	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.462G>A; p.P154P; 20:61773068-61773068	skin	malignant_melanoma	Substitution - coding silent
c.2430A>G; p.P810P; 20:61934106-61934106	liver	carcinoma	Substitution - coding silent
c.1213C>T; p.R405C; 20:61910446-61910446	ovary	other; neoplasm	Substitution - Missense
c.480C>T; p.N160N; 20:61773086-61773086	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.2680G>A; p.D894N; 20:61936872-61936872	skin	malignant_melanoma	Substitution - Missense
c.2680G>A; p.D894N; 20:61936872-61936872	skin	malignant_melanoma	Substitution - Missense
c.480C>T; p.N160N; 20:61773086-61773086	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.480C>T; p.N160N; 20:61773086-61773086	breast	carcinoma	Substitution - coding silent
c.2430A>G; p.P810P; 20:61934106-61934106	liver	carcinoma	Substitution - coding silent
c.1375-1G>A; p.?; 20:61923450-61923450	skin	malignant_melanoma	Unknown
c.2553C>T; p.R851R; 20:61936745-61936745	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2455G>A; p.V819M; 20:61934131-61934131	pancreas	carcinoma	Substitution - Missense
c.2121A>T; p.K707N; 20:61929724-61929724	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1104C>G; p.L368L; 20:61894963-61894963	thyroid	carcinoma; anaplastic_carcinoma	Substitution - coding silent
c.1572C>T; p.T524T; 20:61923648-61923648	breast	carcinoma	Substitution - coding silent
c.461_462insG; p.W155fs*46; 20:61773067-61773068	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1193C>T; p.A398V; 20:61910426-61910426	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1986G>T; p.W662C; 20:61928404-61928404	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1876C>T; p.P626S; 20:61928294-61928294	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1986G>T; p.W662C; 20:61928404-61928404	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.326C>T; p.T109I; 20:61743719-61743719	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.436C>T; p.P146S; 20:61773042-61773042	skin	malignant_melanoma	Substitution - Missense
c.2098C>G; p.L700V; 20:61929701-61929701	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2098C>G; p.L700V; 20:61929701-61929701	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1574T>C; p.V525A; 20:61923650-61923650	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1198G>A; p.E400K; 20:61910431-61910431	skin	malignant_melanoma	Substitution - Missense
c.2605G>A; p.D869N; 20:61936797-61936797	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2720C>T; p.A907V; 20:61936912-61936912	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2326G>A; p.V776I; 20:61933071-61933071	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1924C>T; p.P642S; 20:61928342-61928342	skin	malignant_melanoma	Substitution - Missense
c.1004G>A; p.S335N; 20:61873854-61873854	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2148C>A; p.N716K; 20:61929751-61929751	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.155A>G; p.E52G; 20:61254923-61254923	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.990G>T; p.M330I; 20:61873840-61873840	urinary_tract; bladder	carcinoma	Substitution - Missense
c.581G>A; p.R194Q; 20:61844672-61844672	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1206C>T; p.P402P; 20:61910439-61910439	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1543C>T; p.R515C; 20:61923619-61923619	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1299C>T; p.I433I; 20:61910532-61910532	skin	malignant_melanoma	Substitution - coding silent
c.861C>T; p.D287D; 20:61852882-61852882	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.856G>A; p.V286M; 20:61852877-61852877	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.861C>T; p.D287D; 20:61852882-61852882	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2180C>T; p.A727V; 20:61929783-61929783	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.804C>A; p.I268I; 20:61852825-61852825	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2475C>T; p.G825G; 20:61934151-61934151	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1342G>A; p.V448I; 20:61910575-61910575	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.683G>T; p.R228L; 20:61844774-61844774	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.733-10G>A; p.?; 20:61852744-61852744	oesophagus	carcinoma; adenocarcinoma	Unknown
c.1045C>T; p.R349*; 20:61873895-61873895	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2323G>A; p.D775N; 20:61933068-61933068	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1649C>T; p.P550L; 20:61924354-61924354	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1225G>A; p.V409M; 20:61910458-61910458	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1225G>A; p.V409M; 20:61910458-61910458	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1619A>G; p.Q540R; 20:61923695-61923695	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.624G>T; p.T208T; 20:61844715-61844715	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.413A>C; p.K138T; 20:61773019-61773019	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1477G>A; p.G493R; 20:61923553-61923553	skin	malignant_melanoma	Substitution - Missense
c.1249G>A; p.D417N; 20:61910482-61910482	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1258C>G; p.Q420E; 20:61910491-61910491	skin	malignant_melanoma	Substitution - Missense
c.624G>A; p.T208T; 20:61844715-61844715	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1833C>T; p.N611N; 20:61928251-61928251	central_nervous_system; brain	glioma	Substitution - coding silent
c.1833C>T; p.N611N; 20:61928251-61928251	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.624G>A; p.T208T; 20:61844715-61844715	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.482C>G; p.A161G; 20:61773088-61773088	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.297G>A; p.A99A; 20:61743690-61743690	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.496C>T; p.R166W; 20:61773102-61773102	liver	carcinoma	Substitution - Missense
c.435T>C; p.S145S; 20:61773041-61773041	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.200G>A; p.G67E; 20:61743593-61743593	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1232C>A; p.A411E; 20:61910465-61910465	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.496C>T; p.R166W; 20:61773102-61773102	liver	carcinoma	Substitution - Missense
c.2257G>C; p.V753L; 20:61933002-61933002	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.122C>A; p.T41K; 20:61254890-61254890	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1777delC; p.P594fs*35; 20:61928195-61928195	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1777delC; p.P594fs*35; 20:61928195-61928195	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1000A>G; p.N334D; 20:61873850-61873850	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2638G>A; p.V880I; 20:61936830-61936830	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1376C>T; p.A459V; 20:61923452-61923452	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2568C>A; p.D856E; 20:61936760-61936760	liver	carcinoma	Substitution - Missense
c.2473G>A; p.G825S; 20:61934149-61934149	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1724A>G; p.Y575C; 20:61924429-61924429	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2568C>A; p.D856E; 20:61936760-61936760	liver	carcinoma	Substitution - Missense
c.2568C>A; p.D856E; 20:61936760-61936760	liver	carcinoma	Substitution - Missense
c.1412C>T; p.T471I; 20:61923488-61923488	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.886G>A; p.V296M; 20:61873736-61873736	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2361C>T; p.G787G; 20:61933106-61933106	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.886G>A; p.V296M; 20:61873736-61873736	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1207G>A; p.E403K; 20:61910440-61910440	skin	malignant_melanoma	Substitution - Missense
c.1179C>T; p.T393T; 20:61895038-61895038	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1207G>A; p.E403K; 20:61910440-61910440	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.115G>A; p.D39N; 20:61254883-61254883	bone; pelvis	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1336G>A; p.D446N; 20:61910569-61910569	skin	malignant_melanoma	Substitution - Missense
c.115G>A; p.D39N; 20:61254883-61254883	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.744C>T; p.H248H; 20:61852765-61852765	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1207G>A; p.E403K; 20:61910440-61910440	skin	malignant_melanoma	Substitution - Missense
c.967C>T; p.P323S; 20:61873817-61873817	skin	malignant_melanoma	Substitution - Missense
c.1589C>T; p.S530L; 20:61923665-61923665	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1310C>T; p.P437L; 20:61910543-61910543	skin	malignant_melanoma	Substitution - Missense
c.426G>A; p.L142L; 20:61773032-61773032	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1829A>G; p.D610G; 20:61928247-61928247	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.418G>A; p.V140M; 20:61773024-61773024	liver	carcinoma	Substitution - Missense
c.1472C>T; p.T491M; 20:61923548-61923548	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.418G>A; p.V140M; 20:61773024-61773024	liver	carcinoma	Substitution - Missense
c.2491C>T; p.P831S; 20:61934167-61934167	skin	malignant_melanoma	Substitution - Missense
c.329C>A; p.A110E; 20:61743722-61743722	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.302C>T; p.T101M; 20:61743695-61743695	urinary_tract; bladder	carcinoma	Substitution - Missense
c.684G>C; p.R228R; 20:61844775-61844775	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.302C>T; p.T101M; 20:61743695-61743695	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2251C>A; p.L751M; 20:61932996-61932996	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.633C>T; p.G211G; 20:61844724-61844724	liver	carcinoma	Substitution - coding silent
c.633C>T; p.G211G; 20:61844724-61844724	liver	carcinoma	Substitution - coding silent
c.950G>A; p.R317Q; 20:61873800-61873800	prostate	carcinoma	Substitution - Missense
c.950G>A; p.R317Q; 20:61873800-61873800	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1629-5C>T; p.?; 20:61924329-61924329	oesophagus	carcinoma; adenocarcinoma	Unknown
c.58-1G>A; p.?; 20:61254825-61254825	stomach	carcinoma; intestinal_adenocarcinoma	Unknown
c.1629-5C>T; p.?; 20:61924329-61924329	oesophagus	carcinoma; adenocarcinoma	Unknown
c.1719C>T; p.S573S; 20:61924424-61924424	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2578delC; p.Y862fs*22; 20:61936770-61936770	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2578delC; p.Y862fs*22; 20:61936770-61936770	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2025C>T; p.S675S; 20:61929628-61929628	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2578delC; p.Y862fs*22; 20:61936770-61936770	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2578delC; p.Y862fs*22; 20:61936770-61936770	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1542C>T; p.I514I; 20:61923618-61923618	skin; back	malignant_melanoma	Substitution - coding silent
c.1971C>T; p.A657A; 20:61928389-61928389	skin	malignant_melanoma	Substitution - coding silent
c.285C>T; p.S95S; 20:61743678-61743678	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.916G>A; p.D306N; 20:61873766-61873766	skin	malignant_melanoma	Substitution - Missense
c.584C>A; p.S195Y; 20:61844675-61844675	breast	carcinoma	Substitution - Missense
c.1526C>A; p.S509*; 20:61923602-61923602	pancreas	carcinoma	Substitution - Nonsense
c.610C>T; p.R204W; 20:61844701-61844701	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2620G>A; p.G874S; 20:61936812-61936812	pancreas	carcinoma	Substitution - Missense
c.610C>T; p.R204W; 20:61844701-61844701	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2620G>A; p.G874S; 20:61936812-61936812	pancreas	carcinoma	Substitution - Missense
c.2620G>A; p.G874S; 20:61936812-61936812	pancreas	carcinoma	Substitution - Missense
c.1351G>A; p.E451K; 20:61910584-61910584	skin	malignant_melanoma	Substitution - Missense
c.610C>T; p.R204W; 20:61844701-61844701	breast	carcinoma	Substitution - Missense
c.1813C>G; p.L605V; 20:61928231-61928231	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1781C>T; p.P594L; 20:61928199-61928199	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1869C>T; p.C623C; 20:61928287-61928287	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.813T>A; p.N271K; 20:61852834-61852834	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2476G>A; p.A826T; 20:61934152-61934152	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1544G>T; p.R515L; 20:61923620-61923620	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.894C>T; p.T298T; 20:61873744-61873744	pancreas	carcinoma	Substitution - coding silent
c.894C>T; p.T298T; 20:61873744-61873744	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2632G>A; p.G878S; 20:61936824-61936824	skin	malignant_melanoma	Substitution - Missense
c.114T>A; p.D38E; 20:61254882-61254882	oesophagus	carcinoma	Substitution - Missense
c.1947C>T; p.F649F; 20:61928365-61928365	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.623C>T; p.T208M; 20:61844714-61844714	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2466G>T; p.R822R; 20:61934142-61934142	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1561C>A; p.P521T; 20:61923637-61923637	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1947C>T; p.F649F; 20:61928365-61928365	skin	malignant_melanoma	Substitution - coding silent
c.623C>T; p.T208M; 20:61844714-61844714	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.443C>T; p.P148L; 20:61773049-61773049	skin	malignant_melanoma	Substitution - Missense
c.1576C>A; p.L526M; 20:61923652-61923652	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2571C>T; p.P857P; 20:61936763-61936763	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.231C>A; p.F77L; 20:61743624-61743624	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.954C>T; p.I318I; 20:61873804-61873804	skin	malignant_melanoma	Substitution - coding silent
c.1557C>T; p.G519G; 20:61923633-61923633	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.461C>T; p.P154L; 20:61773067-61773067	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1473G>A; p.T491T; 20:61923549-61923549	skin	malignant_melanoma	Substitution - coding silent
c.920G>T; p.S307I; 20:61873770-61873770	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2648T>C; p.L883P; 20:61936840-61936840	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1021G>A; p.V341I; 20:61873871-61873871	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1331G>A; p.R444H; 20:61910564-61910564	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2329C>T; p.R777C; 20:61933074-61933074	kidney	other; neoplasm	Substitution - Missense
c.1738G>A; p.V580I; 20:61924443-61924443	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1710C>A; p.D570E; 20:61924415-61924415	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.442C>T; p.P148S; 20:61773048-61773048	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1253G>A; p.R418Q; 20:61910486-61910486	breast	carcinoma	Substitution - Missense
c.559C>T; p.P187S; 20:61773165-61773165	skin	malignant_melanoma	Substitution - Missense
c.1015G>C; p.D339H; 20:61873865-61873865	NS	NS	Substitution - Missense
c.1901C>T; p.T634M; 20:61928319-61928319	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1176T>G; p.F392L; 20:61895035-61895035	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1050G>A; p.E350E; 20:61873900-61873900	skin	malignant_melanoma	Substitution - coding silent
c.2004C>T; p.N668N; 20:61928422-61928422	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.933C>T; p.N311N; 20:61873783-61873783	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.933C>T; p.N311N; 20:61873783-61873783	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.671C>T; p.S224F; 20:61844762-61844762	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2197G>A; p.G733S; 20:61929800-61929800	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.671C>T; p.S224F; 20:61844762-61844762	skin	malignant_melanoma	Substitution - Missense
c.2152G>A; p.D718N; 20:61929755-61929755	skin	malignant_melanoma	Substitution - Missense
c.2049C>T; p.A683A; 20:61929652-61929652	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.671C>T; p.S224F; 20:61844762-61844762	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.2049C>T; p.A683A; 20:61929652-61929652	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2049C>T; p.A683A; 20:61929652-61929652	breast	carcinoma; ductal_carcinoma	Substitution - coding silent
c.2049C>T; p.A683A; 20:61929652-61929652	breast	carcinoma; ductal_carcinoma	Substitution - coding silent
c.488G>A; p.G163E; 20:61773094-61773094	skin	malignant_melanoma	Substitution - Missense
c.682C>T; p.R228W; 20:61844773-61844773	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1239C>T; p.L413L; 20:61910472-61910472	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1239C>T; p.L413L; 20:61910472-61910472	skin	malignant_melanoma	Substitution - coding silent
c.540G>T; p.E180D; 20:61773146-61773146	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.107C>T; p.S36F; 20:61254875-61254875	ovary	other; neoplasm	Substitution - Missense
c.1055T>C; p.V352A; 20:61894914-61894914	skin	malignant_melanoma	Substitution - Missense
c.2445C>T; p.G815G; 20:61934121-61934121	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1097G>A; p.G366E; 20:61894956-61894956	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2168G>A; p.G723D; 20:61929771-61929771	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1554G>A; p.E518E; 20:61923630-61923630	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1573G>A; p.V525M; 20:61923649-61923649	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.2029C>T; p.R677C; 20:61929632-61929632	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.73C>G; p.L25V; 20:61254841-61254841	breast	carcinoma	Substitution - Missense
c.1573G>A; p.V525M; 20:61923649-61923649	pancreas	carcinoma	Substitution - Missense
c.2029C>T; p.R677C; 20:61929632-61929632	central_nervous_system; brain	glioma	Substitution - Missense
c.2401C>A; p.Q801K; 20:61934077-61934077	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1941C>T; p.Y647Y; 20:61928359-61928359	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1141A>G; p.T381A; 20:61895000-61895000	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2627C>T; p.T876I; 20:61936819-61936819	skin	malignant_melanoma	Substitution - Missense
c.864G>A; p.E288E; 20:61852885-61852885	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.709C>A; p.R237R; 20:61844800-61844800	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1834G>A; p.A612T; 20:61928252-61928252	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.402G>A; p.Q134Q; 20:61773008-61773008	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.1834G>A; p.A612T; 20:61928252-61928252	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1648C>A; p.P550T; 20:61924353-61924353	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1874A>G; p.K625R; 20:61928292-61928292	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1874A>G; p.K625R; 20:61928292-61928292	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1874A>G; p.K625R; 20:61928292-61928292	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1834G>A; p.A612T; 20:61928252-61928252	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1228G>A; p.V410I; 20:61910461-61910461	skin	malignant_melanoma	Substitution - Missense
c.2691C>T; p.N897N; 20:61936883-61936883	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.481G>A; p.A161T; 20:61773087-61773087	pancreas	carcinoma	Substitution - Missense
c.481G>A; p.A161T; 20:61773087-61773087	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.820C>T; p.R274C; 20:61852841-61852841	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.481G>A; p.A161T; 20:61773087-61773087	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.728A>G; p.Y243C; 20:61844819-61844819	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.481G>A; p.A161T; 20:61773087-61773087	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1828G>A; p.D610N; 20:61928246-61928246	central_nervous_system; brain	glioma	Substitution - Missense
c.1241C>T; p.T414M; 20:61910474-61910474	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1241C>T; p.T414M; 20:61910474-61910474	liver	carcinoma	Substitution - Missense
c.1241C>T; p.T414M; 20:61910474-61910474	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1020C>T; p.I340I; 20:61873870-61873870	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1433C>T; p.A478V; 20:61923509-61923509	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1241C>T; p.T414M; 20:61910474-61910474	liver	carcinoma	Substitution - Missense
c.1020C>T; p.I340I; 20:61873870-61873870	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2181G>A; p.A727A; 20:61929784-61929784	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1283C>T; p.A428V; 20:61910516-61910516	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1283C>T; p.A428V; 20:61910516-61910516	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.585C>T; p.S195S; 20:61844676-61844676	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1031C>T; p.A344V; 20:61873881-61873881	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1628+1G>A; p.?; 20:61923705-61923705	pancreas	carcinoma	Unknown
c.1031C>T; p.A344V; 20:61873881-61873881	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1976G>A; p.R659Q; 20:61928394-61928394	skin; extremity	malignant_melanoma	Substitution - Missense
c.1031C>T; p.A344V; 20:61873881-61873881	stomach	adenocarcinoma	Substitution - Missense
c.1794C>T; p.T598T; 20:61928212-61928212	skin	malignant_melanoma	Substitution - coding silent
c.1063T>G; p.Y355D; 20:61894922-61894922	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.494G>T; p.R165M; 20:61773100-61773100	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.936G>A; p.G312G; 20:61873786-61873786	skin	malignant_melanoma	Substitution - coding silent
c.2308A>G; p.I770V; 20:61933053-61933053	skin; trunk	malignant_melanoma	Substitution - Missense
c.2322C>T; p.D774D; 20:61933067-61933067	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.519C>G; p.I173M; 20:61773125-61773125	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2169C>T; p.G723G; 20:61929772-61929772	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2217C>T; p.L739L; 20:61929820-61929820	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.927G>A; p.T309T; 20:61873777-61873777	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.927G>A; p.T309T; 20:61873777-61873777	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.487G>A; p.G163R; 20:61773093-61773093	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.831C>A; p.F277L; 20:61852852-61852852	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1215C>T; p.R405R; 20:61910448-61910448	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1338C>T; p.D446D; 20:61910571-61910571	skin	malignant_melanoma	Substitution - coding silent
c.1338C>T; p.D446D; 20:61910571-61910571	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1338C>T; p.D446D; 20:61910571-61910571	thyroid	other; neoplasm	Substitution - coding silent
c.1338C>T; p.D446D; 20:61910571-61910571	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.783C>T; p.I261I; 20:61852804-61852804	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.783C>T; p.I261I; 20:61852804-61852804	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1795G>A; p.G599R; 20:61928213-61928213	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1870G>A; p.E624K; 20:61928288-61928288	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1838C>T; p.P613L; 20:61928256-61928256	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.2468C>T; p.P823L; 20:61934144-61934144	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2449C>T; p.R817C; 20:61934125-61934125	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2449C>T; p.R817C; 20:61934125-61934125	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2449C>T; p.R817C; 20:61934125-61934125	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2449C>T; p.R817C; 20:61934125-61934125	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1743C>T; p.Y581Y; 20:61924448-61924448	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1521C>T; p.F507F; 20:61923597-61923597	skin	malignant_melanoma	Substitution - coding silent
c.1665C>T; p.H555H; 20:61924370-61924370	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2446G>A; p.V816M; 20:61934122-61934122	pancreas	carcinoma	Substitution - Missense
c.2446G>A; p.V816M; 20:61934122-61934122	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2446G>A; p.V816M; 20:61934122-61934122	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1132G>A; p.A378T; 20:61894991-61894991	skin	malignant_melanoma	Substitution - Missense
c.2446G>A; p.V816M; 20:61934122-61934122	NS	NS	Substitution - Missense
c.353G>A; p.R118Q; 20:61743746-61743746	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.943C>T; p.R315W; 20:61873793-61873793	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.943C>T; p.R315W; 20:61873793-61873793	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.943C>T; p.R315W; 20:61873793-61873793	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.906C>T; p.N302N; 20:61873756-61873756	bone; fibula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1330C>T; p.R444C; 20:61910563-61910563	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1327G>A; p.V443I; 20:61910560-61910560	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1330C>T; p.R444C; 20:61910563-61910563	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.259G>A; p.A87T; 20:61743652-61743652	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2205C>T; p.I735I; 20:61929808-61929808	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2718G>A; p.L906L; 20:61936910-61936910	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.710G>T; p.R237L; 20:61844801-61844801	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2619C>T; p.S873S; 20:61936811-61936811	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.266G>T; p.R89L; 20:61743659-61743659	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.850G>A; p.G284S; 20:61852871-61852871	skin	malignant_melanoma	Substitution - Missense
c.2422C>T; p.H808Y; 20:61934098-61934098	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense

Mutation summary in protein domains

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

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]