lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	7450
Symbol	VWF
Synonymous	F8VWF\|VWD
Full name	von Willebrand factor
Gene description	coagulation factor VIII VWF
Cytoband	12p13.3
Gene type	protein-coding
Synonymous	MIM:613160; HGNC:HGNC:12726; Ensembl:ENSG00000110799; HPRD:01906; Vega:OTTHUMG00000168265

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.5488C>T; p.R1830C; 12:6013613-6013613	bone; femur	chondrosarcoma	Substitution - Missense
c.7335G>T; p.E2445D; 12:5976213-5976213	skin	malignant_melanoma	Substitution - Missense
c.5488C>T; p.R1830C; 12:6013613-6013613	skin	malignant_melanoma	Substitution - Missense
c.2025G>A; p.P675P; 12:6052704-6052704	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3597_3598delTG; p.C1199fs*1; 12:6021976-6021977	pancreas	carcinoma; ductal_carcinoma	Deletion - Frameshift
c.7776G>A; p.G2592G; 12:5967597-5967597	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.6603G>T; p.M2201I; 12:5992014-5992014	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3292G>A; p.A1098T; 12:6023718-6023718	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6334C>T; p.Q2112*; 12:5994126-5994126	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.6670G>A; p.V2224M; 12:5991947-5991947	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4885G>A; p.G1629R; 12:6018533-6018533	skin	malignant_melanoma	Substitution - Missense
c.1066C>T; p.R356C; 12:6072374-6072374	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.6220C>T; p.P2074S; 12:5994451-5994451	skin	malignant_melanoma	Substitution - Missense
c.4996C>G; p.L1666V; 12:6018422-6018422	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.6220C>T; p.P2074S; 12:5994451-5994451	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.5314G>A; p.D1772N; 12:6016230-6016230	skin	malignant_melanoma	Substitution - Missense
c.3590C>A; p.P1197Q; 12:6021984-6021984	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4926T>C; p.I1642I; 12:6018492-6018492	liver	carcinoma	Substitution - coding silent
c.4926T>C; p.I1642I; 12:6018492-6018492	endometrium	carcinoma; serous_carcinoma	Substitution - coding silent
c.4926T>C; p.I1642I; 12:6018492-6018492	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.5197C>A; p.L1733M; 12:6016630-6016630	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4500G>A; p.A1500A; 12:6018918-6018918	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5532C>T; p.G1844G; 12:6013569-6013569	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1134C>A; p.I378I; 12:6071319-6071319	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.6372G>T; p.Q2124H; 12:5994088-5994088	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.3318delC; p.Y1107fs*12; 12:6023692-6023692	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.6648T>C; p.C2216C; 12:5991969-5991969	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.7800C>T; p.C2600C; 12:5967573-5967573	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3805G>A; p.D1269N; 12:6019613-6019613	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5563G>A; p.E1855K; 12:6013538-6013538	skin; upper_back	malignant_melanoma	Substitution - Missense
c.7685A>C; p.Q2562P; 12:5969255-5969255	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4693G>T; p.V1565L; 12:6018725-6018725	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.5009G>C; p.C1670S; 12:6018409-6018409	bone; pelvis	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3162G>A; p.T1054T; 12:6025640-6025640	breast	carcinoma	Substitution - coding silent
c.8283C>T; p.S2761S; 12:5949174-5949174	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1153C>T; p.P385S; 12:6071300-6071300	skin	malignant_melanoma	Substitution - Missense
c.2880G>A; p.R960R; 12:6029429-6029429	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7519C>G; p.R2507G; 12:5971628-5971628	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1058C>G; p.S353C; 12:6072382-6072382	ovary	other; neoplasm	Substitution - Missense
c.532+1G>T; p.?; 12:6110373-6110373	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.7998G>A; p.T2666T; 12:5952508-5952508	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6151A>C; p.R2051R; 12:5994520-5994520	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.7998G>A; p.T2666T; 12:5952508-5952508	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3788C>T; p.S1263L; 12:6019630-6019630	skin; trunk	malignant_melanoma	Substitution - Missense
c.5341T>G; p.L1781V; 12:6016203-6016203	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.8183C>T; p.T2728I; 12:5949856-5949856	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3981C>A; p.A1327A; 12:6019437-6019437	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.6183C>T; p.F2061F; 12:5994488-5994488	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.7479G>T; p.R2493S; 12:5971668-5971668	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2306C>T; p.P769L; 12:6044427-6044427	skin	malignant_melanoma	Substitution - Missense
c.7707G>A; p.A2569A; 12:5969233-5969233	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.7707G>A; p.A2569A; 12:5969233-5969233	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma	Substitution - coding silent
c.6288C>T; p.F2096F; 12:5994172-5994172	skin	malignant_melanoma	Substitution - coding silent
c.8242C>A; p.H2748N; 12:5949797-5949797	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1593G>A; p.Q531Q; 12:6057985-6057985	skin	malignant_melanoma	Substitution - coding silent
c.1971G>A; p.V657V; 12:6052758-6052758	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.7523G>A; p.G2508E; 12:5971624-5971624	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7438G>C; p.G2480R; 12:5971709-5971709	breast	carcinoma	Substitution - Missense
c.4349G>A; p.R1450K; 12:6019069-6019069	skin; extremity	malignant_melanoma	Substitution - Missense
c.4944T>C; p.P1648P; 12:6018474-6018474	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.4609G>A; p.V1537I; 12:6018809-6018809	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6442G>T; p.A2148S; 12:5994018-5994018	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.4944T>C; p.P1648P; 12:6018474-6018474	endometrium	carcinoma; serous_carcinoma	Substitution - coding silent
c.7998G>T; p.T2666T; 12:5952508-5952508	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.6812G>T; p.W2271L; 12:5985652-5985652	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5941G>A; p.E1981K; 12:5996124-5996124	skin; mucosal	malignant_melanoma	Substitution - Missense
c.6442G>T; p.A2148S; 12:5994018-5994018	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.4414delG; p.D1472fs*53; 12:6019004-6019004	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4944T>C; p.P1648P; 12:6018474-6018474	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7643C>G; p.S2548C; 12:5969297-5969297	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6486C>G; p.I2162M; 12:5993974-5993974	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1722G>A; p.P574P; 12:6057856-6057856	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.533G>A; p.G178E; 12:6095584-6095584	skin	malignant_melanoma	Substitution - Missense
c.8238T>C; p.D2746D; 12:5949801-5949801	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1143T>C; p.N381N; 12:6071310-6071310	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.366T>C; p.T122T; 12:6110540-6110540	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4439C>T; p.P1480L; 12:6018979-6018979	breast	carcinoma	Substitution - Missense
c.6799-2A>G; p.?; 12:5985667-5985667	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.7130C>T; p.P2377L; 12:5981943-5981943	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3300C>T; p.F1100F; 12:6023710-6023710	skin	malignant_melanoma	Substitution - coding silent
c.2009G>A; p.R670H; 12:6052720-6052720	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6028A>T; p.S2010C; 12:5996037-5996037	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3162G>T; p.T1054T; 12:6025640-6025640	breast	carcinoma	Substitution - coding silent
c.5217C>A; p.T1739T; 12:6016610-6016610	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.5151C>T; p.F1717F; 12:6016773-6016773	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2718G>A; p.R906R; 12:6031546-6031546	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.8038G>A; p.E2680K; 12:5952468-5952468	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5984C>T; p.P1995L; 12:5996081-5996081	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7651C>A; p.Q2551K; 12:5969289-5969289	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1726A>C; p.M576L; 12:6057852-6057852	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.7942G>A; p.A2648T; 12:5953540-5953540	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8174A>G; p.N2725S; 12:5949865-5949865	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8174A>G; p.N2725S; 12:5949865-5949865	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1309G>A; p.D437N; 12:6064369-6064369	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2792G>C; p.G931A; 12:6031472-6031472	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2498G>A; p.G833D; 12:6036436-6036436	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4800G>A; p.A1600A; 12:6018618-6018618	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2435C>T; p.P812L; 12:6044298-6044298	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7580C>T; p.P2527L; 12:5969360-5969360	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3987C>T; p.I1329I; 12:6019431-6019431	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.191delG; p.G64fs*19; 12:6121203-6121203	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.818G>A; p.R273Q; 12:6075391-6075391	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.8420C>T; p.S2807F; 12:5949037-5949037	skin; acral	malignant_melanoma	Substitution - Missense
c.6564G>A; p.G2188G; 12:5993896-5993896	skin	malignant_melanoma	Substitution - coding silent
c.818G>A; p.R273Q; 12:6075391-6075391	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma	Substitution - Missense
c.1795G>A; p.V599I; 12:6057007-6057007	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5148T>A; p.A1716A; 12:6016776-6016776	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - coding silent
c.5510G>A; p.R1837Q; 12:6013591-6013591	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1075C>T; p.P359S; 12:6072365-6072365	skin; shoulder	malignant_melanoma	Substitution - Missense
c.1328C>T; p.S443F; 12:6064350-6064350	skin	malignant_melanoma	Substitution - Missense
c.7897G>A; p.E2633K; 12:5953585-5953585	skin	malignant_melanoma	Substitution - Missense
c.3540G>A; p.G1180G; 12:6022034-6022034	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2093G>A; p.R698K; 12:6052636-6052636	skin	malignant_melanoma	Substitution - Missense
c.7897G>A; p.E2633K; 12:5953585-5953585	skin	malignant_melanoma	Substitution - Missense
c.5510G>A; p.R1837Q; 12:6013591-6013591	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.5442C>T; p.A1814A; 12:6016102-6016102	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.7136G>A; p.R2379H; 12:5981937-5981937	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.7136G>A; p.R2379H; 12:5981937-5981937	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.936C>A; p.C312*; 12:6073680-6073680	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4049C>T; p.A1350V; 12:6019369-6019369	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.778G>A; p.G260R; 12:6075431-6075431	skin	malignant_melanoma	Substitution - Missense
c.6904C>T; p.P2302S; 12:5985117-5985117	skin	malignant_melanoma	Substitution - Missense
c.4000C>T; p.R1334W; 12:6019418-6019418	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4411_4412CC>TT; p.P1471F; 12:6019006-6019007	skin	malignant_melanoma	Substitution - Missense
c.5224G>A; p.D1742N; 12:6016603-6016603	skin	malignant_melanoma	Substitution - Missense
c.5495A>G; p.D1832G; 12:6013606-6013606	breast	carcinoma	Substitution - Missense
c.1723C>T; p.R575C; 12:6057855-6057855	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.5549A>G; p.K1850R; 12:6013552-6013552	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7662C>T; p.V2554V; 12:5969278-5969278	skin	malignant_melanoma	Substitution - coding silent
c.4115T>C; p.I1372T; 12:6019303-6019303	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4205A>G; p.Q1402R; 12:6019213-6019213	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4517C>T; p.S1506L; 12:6018901-6018901	central_nervous_system; thalamus	glioma; oligoastrocytoma_Grade_II	Substitution - Missense
c.2560C>A; p.R854R; 12:6034813-6034813	breast	carcinoma	Substitution - coding silent
c.4517C>T; p.S1506L; 12:6018901-6018901	liver	carcinoma	Substitution - Missense
c.1488G>A; p.E496E; 12:6062999-6062999	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.7860G>A; p.R2620R; 12:5967513-5967513	skin	malignant_melanoma	Substitution - coding silent
c.6860G>A; p.R2287Q; 12:5985604-5985604	pancreas	carcinoma	Substitution - Missense
c.1599C>T; p.D533D; 12:6057979-6057979	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.6579_6580insG; p.R2194fs*4; 12:5993880-5993881	ovary	carcinoma; serous_carcinoma	Insertion - Frameshift
c.5223T>C; p.I1741I; 12:6016604-6016604	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.987C>A; p.C329*; 12:6073629-6073629	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.550C>T; p.P184S; 12:6095567-6095567	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8242C>T; p.H2748Y; 12:5949797-5949797	skin	malignant_melanoma	Substitution - Missense
c.4414G>C; p.D1472H; 12:6019004-6019004	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4414G>C; p.D1472H; 12:6019004-6019004	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.598T>C; p.C200R; 12:6095519-6095519	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7517C>T; p.P2506L; 12:5971630-5971630	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6350A>T; p.Q2117L; 12:5994110-5994110	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.7517C>T; p.P2506L; 12:5971630-5971630	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2656C>T; p.P886S; 12:6034717-6034717	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2072delC; p.P691fs*50; 12:6052657-6052657	oesophagus	carcinoma; adenocarcinoma	Deletion - Frameshift
c.7531C>A; p.Q2511K; 12:5971616-5971616	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2026G>A; p.D676N; 12:6052703-6052703	skin	malignant_melanoma	Substitution - Missense
c.3879T>C; p.F1293F; 12:6019539-6019539	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.8278T>C; p.Y2760H; 12:5949179-5949179	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5990C>G; p.A1997G; 12:5996075-5996075	urinary_tract; bladder	carcinoma	Substitution - Missense
c.7301G>A; p.R2434Q; 12:5976247-5976247	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6922G>A; p.E2308K; 12:5985099-5985099	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5547_5549delGAA; p.K1850delK; 12:6013552-6013554	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.8196G>C; p.Q2732H; 12:5949843-5949843	liver	carcinoma	Substitution - Missense
c.2310delC; p.M771fs*30; 12:6044423-6044423	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5437G>T; p.D1813Y; 12:6016107-6016107	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.6316G>T; p.D2106Y; 12:5994144-5994144	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.8295C>T; p.N2765N; 12:5949162-5949162	oesophagus	carcinoma	Substitution - coding silent
c.4315G>A; p.V1439M; 12:6019103-6019103	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.4927G>A; p.G1643S; 12:6018491-6018491	liver	carcinoma	Substitution - Missense
c.4927G>A; p.G1643S; 12:6018491-6018491	liver	carcinoma	Substitution - Missense
c.6801C>T; p.F2267F; 12:5985663-5985663	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6816_6817CC>TT; p.P2273S; 12:5985647-5985648	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8005G>A; p.D2669N; 12:5952501-5952501	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1237C>A; p.L413M; 12:6065193-6065193	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3823C>T; p.L1275L; 12:6019595-6019595	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4754T>A; p.L1585H; 12:6018664-6018664	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.7529C>T; p.S2510F; 12:5971618-5971618	skin	malignant_melanoma	Substitution - Missense
c.6076G>T; p.G2026W; 12:5994595-5994595	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.5585C>T; p.T1862I; 12:6013516-6013516	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4791G>A; p.R1597R; 12:6018627-6018627	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2943C>T; p.S981S; 12:6029366-6029366	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2943C>T; p.S981S; 12:6029366-6029366	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.22G>A; p.G8R; 12:6123175-6123175	skin	malignant_melanoma	Substitution - Missense
c.5892G>A; p.Q1964Q; 12:5996173-5996173	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.997G>T; p.E333*; 12:6073619-6073619	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.8422C>T; p.P2808S; 12:5949035-5949035	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5498C>T; p.A1833V; 12:6013603-6013603	liver	carcinoma	Substitution - Missense
c.7530C>T; p.S2510S; 12:5971617-5971617	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2025G>T; p.P675P; 12:6052704-6052704	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.340G>C; p.A114P; 12:6110566-6110566	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.7551C>T; p.V2517V; 12:5969389-5969389	breast	carcinoma	Substitution - coding silent
c.4709A>G; p.Y1570C; 12:6018709-6018709	breast	carcinoma	Substitution - Missense
c.5493C>T; p.Y1831Y; 12:6013608-6013608	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4345C>T; p.Q1449*; 12:6019073-6019073	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Nonsense
c.7331G>T; p.W2444L; 12:5976217-5976217	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7888-2A>C; p.?; 12:5953596-5953596	ovary	carcinoma; serous_carcinoma	Unknown
c.5825G>A; p.C1942Y; 12:6011634-6011634	breast	carcinoma	Substitution - Missense
c.222G>A; p.G74G; 12:6110967-6110967	skin	malignant_melanoma	Substitution - coding silent
c.4709A>G; p.Y1570C; 12:6018709-6018709	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.1026C>T; p.C342C; 12:6072414-6072414	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.8176G>A; p.D2726N; 12:5949863-5949863	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.8176G>A; p.D2726N; 12:5949863-5949863	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4540T>C; p.F1514L; 12:6018878-6018878	skin	malignant_melanoma	Substitution - Missense
c.1131G>A; p.W377*; 12:6071322-6071322	skin; ankle	malignant_melanoma; acral_lentiginous	Substitution - Nonsense
c.2756T>C; p.V919A; 12:6031508-6031508	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4518G>A; p.S1506S; 12:6018900-6018900	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4540T>C; p.F1514L; 12:6018878-6018878	skin	malignant_melanoma	Substitution - Missense
c.8356C>A; p.L2786M; 12:5949101-5949101	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2086G>A; p.D696N; 12:6052643-6052643	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5012C>A; p.S1671Y; 12:6018406-6018406	pancreas	carcinoma	Substitution - Missense
c.7723C>T; p.R2575C; 12:5969217-5969217	skin	malignant_melanoma	Substitution - Missense
c.5900A>C; p.K1967T; 12:5996165-5996165	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6846A>G; p.T2282T; 12:5985618-5985618	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7151G>A; p.R2384Q; 12:5981922-5981922	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5176C>T; p.R1726C; 12:6016651-6016651	skin	malignant_melanoma	Substitution - Missense
c.4135C>T; p.R1379C; 12:6019283-6019283	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.8173A>G; p.N2725D; 12:5949866-5949866	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8127G>A; p.M2709I; 12:5951872-5951872	skin	malignant_melanoma	Substitution - Missense
c.5958G>A; p.V1986V; 12:5996107-5996107	skin	malignant_melanoma	Substitution - coding silent
c.4467G>A; p.G1489G; 12:6018951-6018951	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.8074G>T; p.G2692C; 12:5952432-5952432	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.6691C>T; p.P2231S; 12:5991926-5991926	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.817C>T; p.R273W; 12:6075392-6075392	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2155G>A; p.E719K; 12:6052574-6052574	skin	malignant_melanoma	Substitution - Missense
c.3945C>T; p.R1315R; 12:6019473-6019473	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5640G>A; p.M1880I; 12:6012111-6012111	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3797C>A; p.P1266Q; 12:6019621-6019621	soft_tissue; fibrous_tissue_and_uncertain_o	gastrointestinal_stromal_tumour	Substitution - Missense
c.7792G>A; p.D2598N; 12:5967581-5967581	skin	malignant_melanoma	Substitution - Missense
c.669G>T; p.E223D; 12:6075540-6075540	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.115G>A; p.G39R; 12:6121279-6121279	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.693C>T; p.T231T; 12:6075516-6075516	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2837C>T; p.P946L; 12:6029472-6029472	skin	malignant_melanoma	Substitution - Missense
c.1198G>T; p.D400Y; 12:6065232-6065232	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3915G>A; p.E1305E; 12:6019503-6019503	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2905G>T; p.A969S; 12:6029404-6029404	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4284C>T; p.I1428I; 12:6019134-6019134	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4967C>T; p.T1656M; 12:6018451-6018451	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4967C>T; p.T1656M; 12:6018451-6018451	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4822A>G; p.T1608A; 12:6018596-6018596	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.7679G>A; p.G2560D; 12:5969261-5969261	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8437A>C; p.K2813Q; 12:5949020-5949020	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6940C>G; p.Q2314E; 12:5985081-5985081	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6850C>A; p.L2284I; 12:5985614-5985614	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1988C>A; p.T663N; 12:6052741-6052741	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.4974C>T; p.P1658P; 12:6018444-6018444	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.7996A>G; p.T2666A; 12:5952510-5952510	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1600G>A; p.D534N; 12:6057978-6057978	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6850C>A; p.L2284I; 12:5985614-5985614	stomach	adenocarcinoma	Substitution - Missense
c.3580G>A; p.E1194K; 12:6021994-6021994	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6410C>A; p.S2137Y; 12:5994050-5994050	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3594G>A; p.V1198V; 12:6021980-6021980	liver	carcinoma	Substitution - coding silent
c.5797C>T; p.P1933S; 12:6011662-6011662	skin	malignant_melanoma	Substitution - Missense
c.4341G>A; p.E1447E; 12:6019077-6019077	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3594G>A; p.V1198V; 12:6021980-6021980	liver	carcinoma	Substitution - coding silent
c.1060G>T; p.G354*; 12:6072380-6072380	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.7684C>T; p.Q2562*; 12:5969256-5969256	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1173A>T; p.T391T; 12:6065257-6065257	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.7145C>A; p.T2382N; 12:5981928-5981928	breast	carcinoma	Substitution - Missense
c.7389C>T; p.L2463L; 12:5976159-5976159	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.8210G>A; p.G2737E; 12:5949829-5949829	skin	malignant_melanoma	Substitution - Missense
c.4803C>T; p.P1601P; 12:6018615-6018615	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2555A>G; p.Q852R; 12:6034818-6034818	thyroid	other; neoplasm	Substitution - Missense
c.1173A>T; p.T391T; 12:6065257-6065257	thyroid	other; neoplasm	Substitution - coding silent
c.4025G>A; p.R1342H; 12:6019393-6019393	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.657+1G>A; p.?; 12:6095459-6095459	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.5049A>C; p.A1683A; 12:6018369-6018369	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.5049A>C; p.A1683A; 12:6018369-6018369	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.6555G>T; p.R2185R; 12:5993905-5993905	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5049A>C; p.A1683A; 12:6018369-6018369	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.5049A>C; p.A1683A; 12:6018369-6018369	thyroid	other; neoplasm	Substitution - coding silent
c.5049A>C; p.A1683A; 12:6018369-6018369	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.5049A>C; p.A1683A; 12:6018369-6018369	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.5049A>C; p.A1683A; 12:6018369-6018369	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6644G>A; p.G2215D; 12:5991973-5991973	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2856C>T; p.H952H; 12:6029453-6029453	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.5125G>A; p.E1709K; 12:6016799-6016799	skin	malignant_melanoma	Substitution - Missense
c.674G>A; p.C225Y; 12:6075535-6075535	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5289G>T; p.R1763R; 12:6016538-6016538	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.794G>A; p.C265Y; 12:6075415-6075415	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7391G>A; p.R2464H; 12:5976157-5976157	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.4838C>T; p.S1613F; 12:6018580-6018580	skin	malignant_melanoma	Substitution - Missense
c.4665A>C; p.A1555A; 12:6018753-6018753	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.6740G>T; p.S2247I; 12:5991877-5991877	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3336C>A; p.A1112A; 12:6023674-6023674	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.8371G>T; p.G2791C; 12:5949086-5949086	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.8328G>A; p.P2776P; 12:5949129-5949129	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1451A>G; p.H484R; 12:6063036-6063036	breast	carcinoma	Substitution - Missense
c.5547delG; p.K1850fs*53; 12:6013554-6013554	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.625T>A; p.S209T; 12:6095492-6095492	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4201G>A; p.V1401I; 12:6019217-6019217	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2033_2034AA>TC; p.E678>?; 12:6052695-6052696	lung	carcinoma; small_cell_carcinoma	Complex
c.4201G>A; p.V1401I; 12:6019217-6019217	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.3486A>G; p.P1162P; 12:6022792-6022792	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.7288-1G>A; p.?; 12:5976261-5976261	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.57G>A; p.G19G; 12:6121337-6121337	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4476G>A; p.R1492R; 12:6018942-6018942	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1334C>T; p.T445I; 12:6064344-6064344	skin	malignant_melanoma	Substitution - Missense
c.4421C>T; p.A1474V; 12:6018997-6018997	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1626G>A; p.A542A; 12:6057952-6057952	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.5607C>T; p.H1869H; 12:6013494-6013494	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4457C>T; p.S1486L; 12:6018961-6018961	skin	malignant_melanoma	Substitution - Missense
c.8175C>T; p.N2725N; 12:5949864-5949864	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.4457C>T; p.S1486L; 12:6018961-6018961	skin	malignant_melanoma	Substitution - Missense
c.1626G>A; p.A542A; 12:6057952-6057952	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4457C>T; p.S1486L; 12:6018961-6018961	skin; trunk	malignant_melanoma	Substitution - Missense
c.5395C>T; p.L1799L; 12:6016149-6016149	skin	malignant_melanoma	Substitution - coding silent
c.5541C>T; p.N1847N; 12:6013560-6013560	breast	carcinoma	Substitution - coding silent
c.2168C>G; p.S723*; 12:6052561-6052561	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2168C>G; p.S723*; 12:6052561-6052561	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.4564G>A; p.E1522K; 12:6018854-6018854	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1548T>C; p.Y516Y; 12:6058030-6058030	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.2968-1G>A; p.?; 12:6026047-6026047	skin	malignant_melanoma	Unknown
c.2137G>A; p.G713S; 12:6052592-6052592	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.5007C>T; p.C1669C; 12:6018411-6018411	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2868G>A; p.V956V; 12:6029441-6029441	skin	malignant_melanoma	Substitution - coding silent
c.1548T>C; p.Y516Y; 12:6058030-6058030	thyroid	other; neoplasm	Substitution - coding silent
c.5245C>A; p.P1749T; 12:6016582-6016582	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1548T>C; p.Y516Y; 12:6058030-6058030	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2137G>A; p.G713S; 12:6052592-6052592	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3270C>A; p.S1090S; 12:6023740-6023740	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3379C>T; p.P1127S; 12:6023631-6023631	bone; humerus	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.335C>T; p.P112L; 12:6110571-6110571	central_nervous_system; brain	glioma	Substitution - Missense
c.5910C>A; p.G1970G; 12:5996155-5996155	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.1541C>T; p.P514L; 12:6058037-6058037	skin	malignant_melanoma	Substitution - Missense
c.4011G>A; p.P1337P; 12:6019407-6019407	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2381_2382insA; p.N794fs*3; 12:6044351-6044352	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.5494G>A; p.D1832N; 12:6013607-6013607	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8296G>A; p.D2766N; 12:5949161-5949161	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5494G>A; p.D1832N; 12:6013607-6013607	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5106C>T; p.F1702F; 12:6016818-6016818	skin	malignant_melanoma	Substitution - coding silent
c.1405C>T; p.Q469*; 12:6064273-6064273	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5494G>A; p.D1832N; 12:6013607-6013607	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2106G>T; p.V702V; 12:6052623-6052623	ovary	other; neoplasm	Substitution - coding silent
c.151T>C; p.Y51H; 12:6121243-6121243	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7830G>T; p.G2610G; 12:5967543-5967543	pancreas	carcinoma	Substitution - coding silent
c.7830G>T; p.G2610G; 12:5967543-5967543	pancreas	carcinoma	Substitution - coding silent
c.7830G>T; p.G2610G; 12:5967543-5967543	pancreas	carcinoma	Substitution - coding silent
c.4050G>A; p.A1350A; 12:6019368-6019368	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.7830G>T; p.G2610G; 12:5967543-5967543	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.7105A>G; p.R2369G; 12:5981968-5981968	large_intestine; colon	adenoma	Substitution - Missense
c.3017A>T; p.D1006V; 12:6025997-6025997	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.5371G>A; p.G1791R; 12:6016173-6016173	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4683C>A; p.I1561I; 12:6018735-6018735	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.7810C>T; p.R2604C; 12:5967563-5967563	NS	NS	Substitution - Missense
c.2650C>A; p.L884M; 12:6034723-6034723	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.7940C>T; p.T2647M; 12:5953542-5953542	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6257G>A; p.G2086E; 12:5994203-5994203	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2650C>A; p.L884M; 12:6034723-6034723	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2650C>A; p.L884M; 12:6034723-6034723	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1690A>G; p.K564E; 12:6057888-6057888	skin	malignant_melanoma	Substitution - Missense
c.5884G>A; p.D1962N; 12:5996181-5996181	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4870C>T; p.Q1624*; 12:6018548-6018548	skin; neck	malignant_melanoma	Substitution - Nonsense
c.7315C>T; p.P2439S; 12:5976233-5976233	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.919C>T; p.P307S; 12:6073697-6073697	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4107C>T; p.F1369F; 12:6019311-6019311	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.7061G>A; p.C2354Y; 12:5983170-5983170	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6575A>G; p.D2192G; 12:5993885-5993885	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3609C>T; p.G1203G; 12:6021965-6021965	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5391C>A; p.V1797V; 12:6016153-6016153	breast	carcinoma	Substitution - coding silent
c.975C>A; p.C325*; 12:6073641-6073641	liver	carcinoma	Substitution - Nonsense
c.8155+1G>T; p.?; 12:5951843-5951843	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.6337G>T; p.E2113*; 12:5994123-5994123	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.614C>T; p.P205L; 12:6095503-6095503	skin	malignant_melanoma	Substitution - Missense
c.6046C>A; p.L2016M; 12:5996019-5996019	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2610C>T; p.I870I; 12:6034763-6034763	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.7082C>T; p.A2361V; 12:5981991-5981991	breast	carcinoma	Substitution - Missense
c.3515G>T; p.G1172V; 12:6022763-6022763	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2610C>T; p.I870I; 12:6034763-6034763	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.4848C>T; p.I1616I; 12:6018570-6018570	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.753G>T; p.E251D; 12:6075456-6075456	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5724_5725CC>AA; p.Q1909K; 12:6011734-6011735	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3740C>T; p.P1247L; 12:6019678-6019678	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5509C>T; p.R1837W; 12:6013592-6013592	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6192A>G; p.Q2064Q; 12:5994479-5994479	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3108+2T>C; p.?; 12:6025904-6025904	stomach	carcinoma; adenocarcinoma	Unknown
c.5533G>T; p.D1845Y; 12:6013568-6013568	pancreas	carcinoma	Substitution - Missense
c.7886T>C; p.L2629P; 12:5967487-5967487	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2970G>T; p.E990D; 12:6026044-6026044	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3797C>T; p.P1266L; 12:6019621-6019621	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3797C>T; p.P1266L; 12:6019621-6019621	central_nervous_system; brain	glioma	Substitution - Missense
c.1962A>T; p.K654N; 12:6052767-6052767	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2029G>A; p.E677K; 12:6052700-6052700	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6808G>C; p.A2270P; 12:5985656-5985656	pancreas	carcinoma	Substitution - Missense
c.5843-8C>A; p.?; 12:5996230-5996230	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.7578C>A; p.N2526K; 12:5969362-5969362	breast	carcinoma	Substitution - Missense
c.4454_4455insG; p.S1486fs*26; 12:6018963-6018964	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.5973T>C; p.G1991G; 12:5996092-5996092	pancreas	carcinoma	Substitution - coding silent
c.3909G>A; p.M1303I; 12:6019509-6019509	skin	malignant_melanoma	Substitution - Missense
c.8066G>A; p.R2689K; 12:5952440-5952440	skin	malignant_melanoma	Substitution - Missense
c.3764C>T; p.T1255I; 12:6019654-6019654	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - Missense
c.8140A>C; p.T2714P; 12:5951859-5951859	skin; trunk	malignant_melanoma	Substitution - Missense
c.7535C>A; p.S2512Y; 12:5971612-5971612	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1710C>T; p.C570C; 12:6057868-6057868	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6553C>T; p.R2185W; 12:5993907-5993907	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5469delC; p.P1824fs*26; 12:6013632-6013632	prostate	carcinoma	Deletion - Frameshift
c.7732C>G; p.R2578G; 12:5968165-5968165	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4714G>T; p.G1572C; 12:6018704-6018704	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.82G>C; p.G28R; 12:6121312-6121312	skin	malignant_melanoma	Substitution - Missense
c.82G>C; p.G28R; 12:6121312-6121312	skin	malignant_melanoma	Substitution - Missense
c.1669G>T; p.G557W; 12:6057909-6057909	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2002A>C; p.T668P; 12:6052727-6052727	thyroid	other; neoplasm	Substitution - Missense
c.3227A>C; p.D1076A; 12:6023783-6023783	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2002A>C; p.T668P; 12:6052727-6052727	thyroid	other; neoplasm	Substitution - Missense
c.2607G>C; p.T869T; 12:6034766-6034766	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3227A>C; p.D1076A; 12:6023783-6023783	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6695C>T; p.S2232F; 12:5991922-5991922	skin	malignant_melanoma	Substitution - Missense
c.6688C>A; p.H2230N; 12:5991929-5991929	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2809T>C; p.F937L; 12:6031455-6031455	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3227A>C; p.D1076A; 12:6023783-6023783	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6695C>T; p.S2232F; 12:5991922-5991922	skin	malignant_melanoma	Substitution - Missense
c.3923G>A; p.R1308H; 12:6019495-6019495	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2922G>T; p.W974C; 12:6029387-6029387	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8430G>A; p.K2810K; 12:5949027-5949027	liver	carcinoma	Substitution - coding silent
c.4789C>T; p.R1597W; 12:6018629-6018629	prostate	adenoma	Substitution - Missense
c.8430G>A; p.K2810K; 12:5949027-5949027	liver	carcinoma	Substitution - coding silent
c.4789C>T; p.R1597W; 12:6018629-6018629	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.8046A>G; p.G2682G; 12:5952460-5952460	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6206A>T; p.Q2069L; 12:5994465-5994465	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6909G>A; p.T2303T; 12:5985112-5985112	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7372G>A; p.D2458N; 12:5976176-5976176	skin; mucosal	malignant_melanoma	Substitution - Missense
c.3199G>A; p.V1067I; 12:6025603-6025603	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7372G>A; p.D2458N; 12:5976176-5976176	skin	malignant_melanoma	Substitution - Missense
c.6857G>A; p.G2286E; 12:5985607-5985607	skin	malignant_melanoma	Substitution - Missense
c.8164C>A; p.P2722T; 12:5949875-5949875	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.267_268GG>AA; p.E90K; 12:6110921-6110922	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2595C>T; p.A865A; 12:6034778-6034778	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1468G>A; p.V490M; 12:6063019-6063019	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6617C>A; p.S2206Y; 12:5992000-5992000	prostate	carcinoma	Substitution - Missense
c.6764C>G; p.T2255S; 12:5991853-5991853	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.5730C>T; p.T1910T; 12:6011729-6011729	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3281T>G; p.I1094S; 12:6023729-6023729	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2287A>G; p.R763G; 12:6044446-6044446	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2821G>T; p.V941L; 12:6029488-6029488	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8084C>T; p.P2695L; 12:5952422-5952422	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.202C>T; p.R68C; 12:6121192-6121192	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.3739C>T; p.P1247S; 12:6019679-6019679	skin	malignant_melanoma	Substitution - Missense
c.6937C>T; p.R2313C; 12:5985084-5985084	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3739C>T; p.P1247S; 12:6019679-6019679	skin	malignant_melanoma	Substitution - Missense
c.3124T>C; p.S1042P; 12:6025678-6025678	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6608G>A; p.C2203Y; 12:5992009-5992009	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3038A>G; p.Q1013R; 12:6025976-6025976	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5651G>A; p.G1884E; 12:6012100-6012100	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2671T>C; p.Y891H; 12:6034702-6034702	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.203G>A; p.R68H; 12:6121191-6121191	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8333G>A; p.R2778Q; 12:5949124-5949124	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5596T>C; p.S1866P; 12:6013505-6013505	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.8332C>T; p.R2778W; 12:5949125-5949125	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.8333G>A; p.R2778Q; 12:5949124-5949124	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.479G>A; p.G160E; 12:6110427-6110427	skin	malignant_melanoma	Substitution - Missense
c.8332C>T; p.R2778W; 12:5949125-5949125	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1478G>C; p.S493T; 12:6063009-6063009	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7912G>T; p.G2638C; 12:5953570-5953570	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.5751C>A; p.V1917V; 12:6011708-6011708	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3596G>A; p.C1199Y; 12:6021978-6021978	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4225G>A; p.V1409I; 12:6019193-6019193	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.6879G>A; p.T2293T; 12:5985585-5985585	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.7140G>T; p.L2380F; 12:5981933-5981933	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.8305G>A; p.D2769N; 12:5949152-5949152	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6664G>A; p.G2222S; 12:5991953-5991953	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.508G>A; p.E170K; 12:6110398-6110398	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.7333G>A; p.E2445K; 12:5976215-5976215	skin	malignant_melanoma	Substitution - Missense
c.3075G>A; p.W1025*; 12:6025939-6025939	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3045G>A; p.E1015E; 12:6025969-6025969	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.542C>T; p.T181I; 12:6095575-6095575	skin	malignant_melanoma	Substitution - Missense
c.4290G>A; p.K1430K; 12:6019128-6019128	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6455A>T; p.K2152M; 12:5994005-5994005	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5591G>A; p.G1864D; 12:6013510-6013510	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5261T>A; p.L1754*; 12:6016566-6016566	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3259G>A; p.D1087N; 12:6023751-6023751	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3064G>T; p.G1022W; 12:6025950-6025950	skin	malignant_melanoma	Substitution - Missense
c.4613C>T; p.T1538M; 12:6018805-6018805	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4735G>T; p.G1579W; 12:6018683-6018683	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1478G>A; p.S493N; 12:6063009-6063009	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.5739G>A; p.K1913K; 12:6011720-6011720	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5761C>T; p.R1921W; 12:6011698-6011698	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7464C>T; p.G2488G; 12:5971683-5971683	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3611G>T; p.R1204L; 12:6021963-6021963	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.8336C>T; p.T2779M; 12:5949121-5949121	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.5194G>A; p.V1732M; 12:6016633-6016633	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2703C>T; p.N901N; 12:6031561-6031561	thyroid	other; neoplasm	Substitution - coding silent
c.4623G>T; p.Q1541H; 12:6018795-6018795	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.6378C>G; p.I2126M; 12:5994082-5994082	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4548G>T; p.R1516S; 12:6018870-6018870	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4922G>A; p.R1641K; 12:6018496-6018496	skin	malignant_melanoma	Substitution - Missense
c.2259C>T; p.L753L; 12:6046745-6046745	ovary	other; neoplasm	Substitution - coding silent
c.7803G>A; p.T2601T; 12:5967570-5967570	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.7318G>A; p.V2440M; 12:5976230-5976230	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5542G>A; p.V1848M; 12:6013559-6013559	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7520G>T; p.R2507L; 12:5971627-5971627	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4276C>T; p.R1426C; 12:6019142-6019142	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2206A>G; p.M736V; 12:6046798-6046798	prostate	carcinoma	Substitution - Missense
c.6494A>G; p.Q2165R; 12:5993966-5993966	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.7989T>C; p.R2663R; 12:5952517-5952517	prostate	carcinoma	Substitution - coding silent
c.6057C>T; p.D2019D; 12:5996008-5996008	breast	carcinoma; lobular_carcinoma	Substitution - coding silent
c.8032G>A; p.V2678I; 12:5952474-5952474	skin	malignant_melanoma	Substitution - Missense
c.2781C>T; p.I927I; 12:6031483-6031483	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.4032C>T; p.A1344A; 12:6019386-6019386	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.8303A>T; p.Q2768L; 12:5949154-5949154	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.657G>A; p.K219K; 12:6095460-6095460	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4280T>G; p.L1427R; 12:6019138-6019138	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5668G>A; p.G1890R; 12:6011791-6011791	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6027C>A; p.H2009Q; 12:5996038-5996038	thyroid	carcinoma	Substitution - Missense
c.5932C>T; p.Q1978*; 12:5996133-5996133	skin	malignant_melanoma	Substitution - Nonsense
c.8367C>T; p.T2789T; 12:5949090-5949090	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.4232T>G; p.V1411G; 12:6019186-6019186	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.8059G>A; p.E2687K; 12:5952447-5952447	skin	malignant_melanoma	Substitution - Missense
c.6942G>T; p.Q2314H; 12:5985079-5985079	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.3771G>A; p.L1257L; 12:6019647-6019647	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.7292G>A; p.C2431Y; 12:5976256-5976256	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2994T>C; p.N998N; 12:6026020-6026020	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4140C>T; p.I1380I; 12:6019278-6019278	skin	malignant_melanoma	Substitution - coding silent
c.3822G>A; p.R1274R; 12:6019596-6019596	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.6748C>T; p.P2250S; 12:5991869-5991869	skin	malignant_melanoma	Substitution - Missense
c.5762G>A; p.R1921Q; 12:6011697-6011697	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6855C>T; p.S2285S; 12:5985609-5985609	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.4956G>T; p.Q1652H; 12:6018462-6018462	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2974G>T; p.V992L; 12:6026040-6026040	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6867C>T; p.V2289V; 12:5985597-5985597	skin	malignant_melanoma	Substitution - coding silent
c.5866C>T; p.R1956W; 12:5996199-5996199	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4641T>C; p.T1547T; 12:6018777-6018777	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.4641T>C; p.T1547T; 12:6018777-6018777	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2890C>T; p.L964L; 12:6029419-6029419	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4442G>A; p.G1481E; 12:6018976-6018976	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4925T>C; p.I1642T; 12:6018493-6018493	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4696C>T; p.R1566*; 12:6018722-6018722	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.2518G>T; p.E840*; 12:6036416-6036416	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2435_2436insC; p.M814fs*5; 12:6044297-6044298	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3414C>T; p.N1138N; 12:6022864-6022864	thyroid	other; neoplasm	Substitution - coding silent
c.3978C>G; p.H1326Q; 12:6019440-6019440	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4869C>T; p.I1623I; 12:6018549-6018549	skin	malignant_melanoma	Substitution - coding silent
c.935G>A; p.C312Y; 12:6073681-6073681	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.6256+9A>G; p.?; 12:5994406-5994406	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.2432C>T; p.P811L; 12:6044301-6044301	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.7146C>T; p.T2382T; 12:5981927-5981927	skin	malignant_melanoma	Substitution - coding silent
c.1969G>A; p.V657M; 12:6052760-6052760	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.114C>T; p.F38F; 12:6121280-6121280	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.7721G>A; p.C2574Y; 12:5969219-5969219	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7074C>T; p.F2358F; 12:5983157-5983157	breast	carcinoma	Substitution - coding silent
c.4469C>A; p.P1490H; 12:6018949-6018949	skin; trunk	malignant_melanoma	Substitution - Missense
c.4040T>C; p.V1347A; 12:6019378-6019378	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6891C>T; p.P2297P; 12:5985573-5985573	skin	malignant_melanoma	Substitution - coding silent
c.7082-1delG; p.?; 12:5981992-5981992	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2199T>C; p.D733D; 12:6046805-6046805	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6713C>T; p.P2238L; 12:5991904-5991904	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.74G>A; p.G25E; 12:6121320-6121320	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.5496T>C; p.D1832D; 12:6013605-6013605	skin; trunk	malignant_melanoma; nodular	Substitution - coding silent
c.4174C>T; p.R1392W; 12:6019244-6019244	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4327_4335delGTGGATGAG; p.V1443_E1445delVDE; 12:6019083-6019091	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.8115+1G>T; p.?; 12:5952390-5952390	lung	carcinoma; small_cell_carcinoma	Unknown
c.7774G>A; p.G2592R; 12:5967599-5967599	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7519C>T; p.R2507W; 12:5971628-5971628	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5631G>A; p.R1877R; 12:6012120-6012120	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.7519C>T; p.R2507W; 12:5971628-5971628	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2905G>A; p.A969T; 12:6029404-6029404	oesophagus	carcinoma	Substitution - Missense
c.6274G>A; p.G2092R; 12:5994186-5994186	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2791G>A; p.G931R; 12:6031473-6031473	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5558G>A; p.R1853Q; 12:6013543-6013543	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5987G>A; p.G1996E; 12:5996078-5996078	skin	malignant_melanoma	Substitution - Missense
c.5160A>T; p.K1720N; 12:6016764-6016764	breast	carcinoma	Substitution - Missense
c.5558G>A; p.R1853Q; 12:6013543-6013543	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5160A>T; p.K1720N; 12:6016764-6016764	breast	carcinoma	Substitution - Missense
c.858C>T; p.T286T; 12:6075351-6075351	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.3840C>A; p.F1280L; 12:6019578-6019578	pancreas	carcinoma	Substitution - Missense
c.7432C>T; p.R2478W; 12:5976116-5976116	pancreas	carcinoma	Substitution - Missense
c.5953G>T; p.E1985*; 12:5996112-5996112	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.341C>T; p.A114V; 12:6110565-6110565	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.955G>A; p.E319K; 12:6073661-6073661	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7777A>G; p.K2593E; 12:5967596-5967596	oesophagus	carcinoma	Substitution - Missense
c.5355G>A; p.M1785I; 12:6016189-6016189	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3840C>A; p.F1280L; 12:6019578-6019578	pancreas	carcinoma	Substitution - Missense
c.1182A>C; p.S394S; 12:6065248-6065248	thyroid	other; neoplasm	Substitution - coding silent
c.7432C>T; p.R2478W; 12:5976116-5976116	pancreas	NS	Substitution - Missense
c.6321G>A; p.W2107*; 12:5994139-5994139	skin	malignant_melanoma	Substitution - Nonsense
c.6321G>A; p.W2107*; 12:5994139-5994139	skin	malignant_melanoma	Substitution - Nonsense
c.8119A>G; p.K2707E; 12:5951880-5951880	skin	malignant_melanoma	Substitution - Missense
c.6652C>T; p.R2218W; 12:5991965-5991965	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4314C>T; p.F1438F; 12:6019104-6019104	skin	malignant_melanoma	Substitution - coding silent
c.4790G>T; p.R1597L; 12:6018628-6018628	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4796A>T; p.Q1599L; 12:6018622-6018622	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4314C>T; p.F1438F; 12:6019104-6019104	skin	malignant_melanoma	Substitution - coding silent
c.1616C>G; p.S539C; 12:6057962-6057962	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1086C>T; p.S362S; 12:6072354-6072354	skin	malignant_melanoma	Substitution - coding silent
c.7387C>T; p.L2463F; 12:5976161-5976161	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2036_2037insGG; p.C679fs*63; 12:6052692-6052693	lung	carcinoma; small_cell_carcinoma	Insertion - Frameshift
c.8105T>C; p.L2702P; 12:5952401-5952401	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2343G>T; p.L781L; 12:6044390-6044390	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.3231C>G; p.P1077P; 12:6023779-6023779	thyroid	other; neoplasm	Substitution - coding silent
c.2718G>C; p.R906R; 12:6031546-6031546	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.4970T>C; p.L1657P; 12:6018448-6018448	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3231C>G; p.P1077P; 12:6023779-6023779	thyroid	other; neoplasm	Substitution - coding silent
c.2007C>T; p.C669C; 12:6052722-6052722	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.8155+9G>A; p.?; 12:5951835-5951835	stomach	adenocarcinoma	Unknown
c.7131G>A; p.P2377P; 12:5981942-5981942	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.7131G>A; p.P2377P; 12:5981942-5981942	breast	carcinoma	Substitution - coding silent
c.2365A>G; p.T789A; 12:6044368-6044368	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7131G>A; p.P2377P; 12:5981942-5981942	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2145C>G; p.I715M; 12:6052584-6052584	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4413_4414insC; p.D1472fs*40; 12:6019004-6019005	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.5076_5081delGATCCT; p.I1693_L1694delIL; 12:6016843-6016848	skin	malignant_melanoma	Deletion - In frame
c.4413_4414insC; p.D1472fs*40; 12:6019004-6019005	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1568T>C; p.L523P; 12:6058010-6058010	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7676C>T; p.S2559L; 12:5969264-5969264	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1654G>A; p.A552T; 12:6057924-6057924	breast	carcinoma	Substitution - Missense
c.6436C>G; p.L2146V; 12:5994024-5994024	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5434G>A; p.A1812T; 12:6016110-6016110	skin	malignant_melanoma	Substitution - Missense
c.2721C>T; p.I907I; 12:6031543-6031543	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5176C>A; p.R1726S; 12:6016651-6016651	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7676C>T; p.S2559L; 12:5969264-5969264	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6039C>A; p.S2013S; 12:5996026-5996026	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.2953A>G; p.K985E; 12:6029356-6029356	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8327C>T; p.P2776L; 12:5949130-5949130	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8327C>T; p.P2776L; 12:5949130-5949130	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.5779T>A; p.C1927S; 12:6011680-6011680	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.8327C>T; p.P2776L; 12:5949130-5949130	ovary	other; neoplasm	Substitution - Missense
c.8327C>T; p.P2776L; 12:5949130-5949130	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8327C>T; p.P2776L; 12:5949130-5949130	pancreas	carcinoma	Substitution - Missense
c.3224T>G; p.V1075G; 12:6023786-6023786	urinary_tract; bladder	carcinoma	Substitution - Missense
c.7216C>T; p.P2406S; 12:5981857-5981857	skin	malignant_melanoma	Substitution - Missense
c.1247G>A; p.R416Q; 12:6065183-6065183	skin	malignant_melanoma	Substitution - Missense
c.3617T>C; p.F1206S; 12:6021957-6021957	skin	malignant_melanoma	Substitution - Missense
c.7196T>C; p.V2399A; 12:5981877-5981877	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.283C>A; p.H95N; 12:6110906-6110906	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1597G>A; p.D533N; 12:6057981-6057981	skin	malignant_melanoma	Substitution - Missense
c.4975C>T; p.R1659*; 12:6018443-6018443	pancreas	carcinoma	Substitution - Nonsense
c.1597G>A; p.D533N; 12:6057981-6057981	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.6470C>T; p.A2157V; 12:5993990-5993990	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2540A>G; p.N847S; 12:6036394-6036394	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5096C>T; p.S1699F; 12:6016828-6016828	skin	malignant_melanoma	Substitution - Missense
c.6243G>A; p.T2081T; 12:5994428-5994428	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.256G>A; p.V86M; 12:6110933-6110933	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.256G>A; p.V86M; 12:6110933-6110933	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.256G>A; p.V86M; 12:6110933-6110933	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5913C>G; p.S1971R; 12:5996152-5996152	ovary	other; neoplasm	Substitution - Missense
c.1079G>A; p.G360D; 12:6072361-6072361	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3943C>T; p.R1315C; 12:6019475-6019475	skin	malignant_melanoma	Substitution - Missense
c.7737G>A; p.M2579I; 12:5968160-5968160	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.5394C>T; p.I1798I; 12:6016150-6016150	skin	malignant_melanoma	Substitution - coding silent
c.2085G>A; p.M695I; 12:6052644-6052644	skin	malignant_melanoma	Substitution - Missense
c.553T>A; p.Y185N; 12:6095564-6095564	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2303G>A; p.R768Q; 12:6044430-6044430	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7355C>G; p.T2452S; 12:5976193-5976193	urinary_tract; bladder	carcinoma	Substitution - Missense
c.7161G>A; p.Q2387Q; 12:5981912-5981912	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2194G>A; p.E732K; 12:6046810-6046810	central_nervous_system; brain	glioma	Substitution - Missense
c.2990G>A; p.G997E; 12:6026024-6026024	skin	malignant_melanoma	Substitution - Missense
c.5656G>A; p.E1886K; 12:6012095-6012095	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1648G>A; p.G550R; 12:6057930-6057930	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.6918G>C; p.L2306L; 12:5985103-5985103	skin; arm	malignant_melanoma	Substitution - coding silent
c.6352C>T; p.R2118W; 12:5994108-5994108	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7906A>C; p.N2636H; 12:5953576-5953576	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7408C>T; p.Q2470*; 12:5976140-5976140	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3804C>T; p.H1268H; 12:6019614-6019614	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.6964G>A; p.E2322K; 12:5985057-5985057	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8164C>G; p.P2722A; 12:5949875-5949875	pancreas	NS	Substitution - Missense
c.2168C>T; p.S723L; 12:6052561-6052561	skin	malignant_melanoma	Substitution - Missense
c.6732G>T; p.L2244F; 12:5991885-5991885	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.5038C>A; p.L1680I; 12:6018380-6018380	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5957T>C; p.V1986A; 12:5996108-5996108	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1109+1G>T; p.?; 12:6072330-6072330	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.6970G>A; p.E2324K; 12:5985051-5985051	skin	malignant_melanoma	Substitution - Missense
c.2289G>T; p.R763S; 12:6044444-6044444	skin	malignant_melanoma	Substitution - Missense
c.100C>T; p.R34*; 12:6121294-6121294	breast	carcinoma	Substitution - Nonsense
c.4713G>T; p.Q1571H; 12:6018705-6018705	skin; hand	malignant_melanoma	Substitution - Missense
c.5844C>T; p.C1948C; 12:5996221-5996221	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5947G>A; p.D1983N; 12:5996118-5996118	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.367G>A; p.E123K; 12:6110539-6110539	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4369C>A; p.L1457I; 12:6019049-6019049	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.100C>T; p.R34*; 12:6121294-6121294	breast	carcinoma	Substitution - Nonsense
c.7129C>A; p.P2377T; 12:5981944-5981944	skin; trunk	malignant_melanoma	Substitution - Missense
c.12C>T; p.A4A; 12:6123185-6123185	skin	malignant_melanoma	Substitution - coding silent
c.3951C>T; p.A1317A; 12:6019467-6019467	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4879C>G; p.P1627A; 12:6018539-6018539	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.8134C>T; p.P2712S; 12:5951865-5951865	skin	malignant_melanoma	Substitution - Missense
c.8134C>T; p.P2712S; 12:5951865-5951865	skin	malignant_melanoma	Substitution - Missense
c.8134C>T; p.P2712S; 12:5951865-5951865	skin	malignant_melanoma	Substitution - Missense
c.7362C>T; p.T2454T; 12:5976186-5976186	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.5358T>C; p.H1786H; 12:6016186-6016186	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.6488G>T; p.C2163F; 12:5993972-5993972	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3785T>C; p.I1262T; 12:6019633-6019633	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.355T>C; p.Y119H; 12:6110551-6110551	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5538C>T; p.S1846S; 12:6013563-6013563	skin; trunk	malignant_melanoma; nodular	Substitution - coding silent
c.4558T>C; p.F1520L; 12:6018860-6018860	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.8134C>A; p.P2712T; 12:5951865-5951865	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.887C>T; p.P296L; 12:6073729-6073729	skin; mucosal	malignant_melanoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation