Entrez Gene

Basic Information
Gene ID	463
Name	ZFHX3
Synonymous	zinc finger homeobox 3;ZFHX3;zinc finger homeobox 3
Definition	AT motif-binding factor 1\|AT-binding transcription factor 1\|ZFH-3\|alpha-fetoprotein enhancer binding protein\|alpha-fetoprotein enhancer-binding protein\|zinc finger homeobox protein 3\|zinc finger homeodomain protein 3
Position	16q22.3
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 0.18.

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.10272G>C; p.Q3424H; 16:72788004-72788004	bone; pelvis	chondrosarcoma	Substitution - Missense
c.4344T>C; p.L1448L; 16:72798338-72798338	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.8277G>T; p.Q2759H; 16:72794405-72794405	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.9584C>T; p.P3195L; 16:72788692-72788692	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.213delC; p.S72fs*37; 16:72959933-72959933	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.9606_9611delGCAGCA; p.Q3203_Q3204delQQ; 16:72788665-72788670	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Deletion - In frame
c.675C>T; p.S225S; 16:72959471-72959471	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3919delC; p.P1307fs*38; 16:72800075-72800075	prostate	carcinoma	Deletion - Frameshift
c.8369A>T; p.K2790I; 16:72794313-72794313	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.7442C>T; p.P2481L; 16:72795240-72795240	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.856T>A; p.L286M; 16:72959290-72959290	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.10609G>A; p.A3537T; 16:72787667-72787667	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7154C>T; p.P2385L; 16:72795528-72795528	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.8231A>C; p.N2744T; 16:72794451-72794451	prostate	carcinoma	Substitution - Missense
c.201G>A; p.S67S; 16:72959945-72959945	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5815G>C; p.D1939H; 16:72796867-72796867	breast	carcinoma	Substitution - Missense
c.1157G>A; p.G386D; 16:72958989-72958989	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.8783C>A; p.P2928H; 16:72793899-72793899	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1221C>T; p.T407T; 16:72958925-72958925	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.7928G>A; p.R2643H; 16:72794754-72794754	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7928G>A; p.R2643H; 16:72794754-72794754	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.10630C>G; p.L3544V; 16:72787646-72787646	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7928G>A; p.R2643H; 16:72794754-72794754	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.9942C>T; p.G3314G; 16:72788334-72788334	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.9778G>A; p.E3260K; 16:72788498-72788498	skin	malignant_melanoma	Substitution - Missense
c.10142G>C; p.R3381P; 16:72788134-72788134	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2091G>A; p.P697P; 16:72958055-72958055	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.10037C>T; p.P3346L; 16:72788239-72788239	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.11081C>T; p.T3694I; 16:72787195-72787195	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3003G>A; p.L1001L; 16:72950682-72950682	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.5830G>A; p.A1944T; 16:72796852-72796852	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5830G>A; p.A1944T; 16:72796852-72796852	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1917C>T; p.G639G; 16:72958229-72958229	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.10755T>G; p.S3585S; 16:72787521-72787521	thyroid	carcinoma	Substitution - coding silent
c.399C>T; p.I133I; 16:72959747-72959747	skin	malignant_melanoma	Substitution - coding silent
c.399C>T; p.I133I; 16:72959747-72959747	skin	malignant_melanoma	Substitution - coding silent
c.399C>T; p.I133I; 16:72959747-72959747	skin	malignant_melanoma	Substitution - coding silent
c.9118C>T; p.R3040C; 16:72793564-72793564	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8028C>T; p.H2676H; 16:72794654-72794654	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.9446C>T; p.P3149L; 16:72788830-72788830	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.10215_10216insC; p.G3406fs*25; 16:72788060-72788061	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.10294T>A; p.S3432T; 16:72787982-72787982	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.11096A>G; p.D3699G; 16:72787180-72787180	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.8090G>T; p.R2697M; 16:72794592-72794592	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.10947A>G; p.S3649S; 16:72787329-72787329	thyroid	carcinoma	Substitution - coding silent
c.11096A>G; p.D3699G; 16:72787180-72787180	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3651C>G; p.I1217M; 16:72811917-72811917	large_intestine; colon	carcinoma	Substitution - Missense
c.875G>A; p.G292E; 16:72959271-72959271	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5193_5198delGCAACA; p.Q1740_Q1741delQQ; 16:72797484-72797489	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Deletion - In frame
c.3651C>G; p.I1217M; 16:72811917-72811917	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5224_5225insCAACAA; p.A1742_Q1743insTT; 16:72797457-72797458	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.5224_5225insCAACAA; p.A1742_Q1743insTT; 16:72797457-72797458	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Insertion - In frame
c.5218_5223delCAACAA; p.Q1740_Q1741delQQ; 16:72797459-72797464	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - In frame
c.3651C>G; p.I1217M; 16:72811917-72811917	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.10538_10539insGGCGGCGGC; p.S3513>RAAA; 16:72787737-72787738	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Complex - insertion inframe
c.11082C>A; p.T3694T; 16:72787194-72787194	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.9891G>A; p.S3297S; 16:72788385-72788385	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.9795delC; p.T3266fs*18; 16:72788481-72788481	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2650G>A; p.A884T; 16:72957496-72957496	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4977C>T; p.G1659G; 16:72797705-72797705	pancreas	carcinoma	Substitution - coding silent
c.6288C>T; p.I2096I; 16:72796394-72796394	skin	malignant_melanoma	Substitution - coding silent
c.10538_10539insGGC; p.S3513>RA; 16:72787737-72787738	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Complex - insertion inframe
c.3733C>T; p.Q1245*; 16:72811708-72811708	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.7083C>T; p.D2361D; 16:72795599-72795599	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5774delG; p.G1925fs*72; 16:72796908-72796908	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.10571_10572insTGG; p.G3527_S3528insG; 16:72787704-72787705	large_intestine	carcinoma; adenocarcinoma	Insertion - In frame
c.5774delG; p.G1925fs*72; 16:72796908-72796908	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.8285G>A; p.G2762E; 16:72794397-72794397	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4532G>T; p.G1511V; 16:72798150-72798150	breast	carcinoma	Substitution - Missense
c.7049T>G; p.L2350R; 16:72795633-72795633	pancreas	carcinoma	Substitution - Missense
c.11004C>T; p.L3668L; 16:72787272-72787272	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3677C>T; p.P1226L; 16:72811764-72811764	skin	malignant_melanoma	Substitution - Missense
c.882C>T; p.V294V; 16:72959264-72959264	skin	malignant_melanoma	Substitution - coding silent
c.9771C>T; p.P3257P; 16:72788505-72788505	skin	malignant_melanoma	Substitution - coding silent
c.7049T>G; p.L2350R; 16:72795633-72795633	pancreas	carcinoma	Substitution - Missense
c.10142G>A; p.R3381Q; 16:72788134-72788134	thyroid	other; neoplasm	Substitution - Missense
c.7049T>G; p.L2350R; 16:72795633-72795633	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.2445G>T; p.V815V; 16:72957701-72957701	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.10397T>C; p.V3466A; 16:72787879-72787879	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2814C>T; p.N938N; 16:72950871-72950871	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5321C>A; p.P1774H; 16:72797361-72797361	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1764G>A; p.L588L; 16:72958382-72958382	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4177G>T; p.V1393L; 16:72798505-72798505	skin	malignant_melanoma	Substitution - Missense
c.3887T>C; p.M1296T; 16:72800107-72800107	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.8584G>T; p.A2862S; 16:72794098-72794098	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6218C>G; p.S2073*; 16:72796464-72796464	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5011G>T; p.A1671S; 16:72797671-72797671	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3435C>T; p.P1145P; 16:72889744-72889744	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.930C>T; p.S310S; 16:72959216-72959216	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.221C>T; p.P74L; 16:72959925-72959925	skin	malignant_melanoma	Substitution - Missense
c.7260T>C; p.N2420N; 16:72795422-72795422	skin	malignant_melanoma	Substitution - coding silent
c.10802C>G; p.S3601W; 16:72787474-72787474	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.613G>A; p.G205R; 16:72959533-72959533	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.529G>A; p.A177T; 16:72959617-72959617	pancreas	carcinoma	Substitution - Missense
c.6466C>T; p.Q2156*; 16:72796216-72796216	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.9585C>T; p.P3195P; 16:72788691-72788691	skin; trunk	malignant_melanoma; nodular	Substitution - coding silent
c.7671G>T; p.Q2557H; 16:72795011-72795011	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.9149C>T; p.S3050F; 16:72793533-72793533	skin	malignant_melanoma	Substitution - Missense
c.529G>A; p.A177T; 16:72959617-72959617	kidney	other; neoplasm	Substitution - Missense
c.6348G>A; p.P2116P; 16:72796334-72796334	breast	carcinoma	Substitution - coding silent
c.422C>T; p.A141V; 16:72959724-72959724	urinary_tract; bladder	carcinoma	Substitution - Missense
c.8923G>T; p.E2975*; 16:72793759-72793759	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1492G>A; p.E498K; 16:72958654-72958654	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4197C>T; p.Y1399Y; 16:72798485-72798485	pancreas	carcinoma	Substitution - coding silent
c.11051A>T; p.D3684V; 16:72787225-72787225	skin	malignant_melanoma	Substitution - Missense
c.1874C>T; p.S625F; 16:72958272-72958272	skin	malignant_melanoma	Substitution - Missense
c.1153G>A; p.A385T; 16:72958993-72958993	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.10840A>T; p.R3614W; 16:72787436-72787436	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.6880C>T; p.R2294*; 16:72795802-72795802	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3968-9_3968-6delTTTT; p.?; 16:72798720-72798723	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.7940C>A; p.T2647N; 16:72794742-72794742	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4784C>T; p.P1595L; 16:72797898-72797898	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2653C>T; p.Q885*; 16:72957493-72957493	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1435G>A; p.E479K; 16:72958711-72958711	skin	malignant_melanoma	Substitution - Missense
c.10018G>T; p.G3340C; 16:72788258-72788258	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6007G>A; p.E2003K; 16:72796675-72796675	skin	malignant_melanoma	Substitution - Missense
c.985A>T; p.I329F; 16:72959161-72959161	skin; mucosal	malignant_melanoma	Substitution - Missense
c.9825G>A; p.P3275P; 16:72788451-72788451	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2069T>C; p.M690T; 16:72958077-72958077	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.790G>T; p.V264L; 16:72959356-72959356	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.120G>A; p.E40E; 16:72960026-72960026	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5751G>A; p.E1917E; 16:72796931-72796931	skin	malignant_melanoma	Substitution - coding silent
c.5120C>A; p.P1707H; 16:72797562-72797562	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5120C>A; p.P1707H; 16:72797562-72797562	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5120C>A; p.P1707H; 16:72797562-72797562	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.10215delC; p.A3407fs*78; 16:72788061-72788061	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.11041G>A; p.G3681S; 16:72787235-72787235	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2720T>C; p.V907A; 16:72950965-72950965	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.11041G>A; p.G3681S; 16:72787235-72787235	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related	Substitution - Missense
c.1389G>A; p.A463A; 16:72958757-72958757	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.536delG; p.G179fs*22; 16:72959610-72959610	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3239G>C; p.G1080A; 16:72889940-72889940	breast	carcinoma	Substitution - Missense
c.1212C>T; p.G404G; 16:72958934-72958934	liver	carcinoma	Substitution - coding silent
c.3176C>T; p.T1059M; 16:72950509-72950509	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5777G>A; p.G1926D; 16:72796905-72796905	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.10625A>G; p.E3542G; 16:72787651-72787651	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.709C>T; p.R237*; 16:72959437-72959437	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.9390C>T; p.N3130N; 16:72793292-72793292	skin	malignant_melanoma	Substitution - coding silent
c.5363T>G; p.L1788R; 16:72797319-72797319	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6127_6135delCCCCCTCCA; p.P2048_P2050delPPP; 16:72796547-72796555	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Deletion - In frame
c.3576C>T; p.T1192T; 16:72811992-72811992	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.10139A>G; p.Q3380R; 16:72788137-72788137	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5439G>A; p.V1813V; 16:72797243-72797243	breast	carcinoma	Substitution - coding silent
c.567C>T; p.P189P; 16:72959579-72959579	skin	malignant_melanoma	Substitution - coding silent
c.9119G>A; p.R3040H; 16:72793563-72793563	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6716G>A; p.W2239*; 16:72795966-72795966	skin	malignant_melanoma	Substitution - Nonsense
c.4186C>T; p.R1396C; 16:72798496-72798496	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4186C>T; p.R1396C; 16:72798496-72798496	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4186C>T; p.R1396C; 16:72798496-72798496	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.5317A>G; p.N1773D; 16:72797365-72797365	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.2792G>A; p.G931D; 16:72950893-72950893	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.10624G>A; p.E3542K; 16:72787652-72787652	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6318G>A; p.P2106P; 16:72796364-72796364	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5718G>T; p.K1906N; 16:72796964-72796964	skin	malignant_melanoma	Substitution - Missense
c.6234G>A; p.P2078P; 16:72796448-72796448	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.357G>A; p.E119E; 16:72959789-72959789	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.3616C>G; p.L1206V; 16:72811952-72811952	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4206C>T; p.R1402R; 16:72798476-72798476	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6233C>T; p.P2078L; 16:72796449-72796449	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.4529C>T; p.S1510F; 16:72798153-72798153	breast	carcinoma	Substitution - Missense
c.6170_6171insA; p.P2058fs*98; 16:72796511-72796512	breast	carcinoma	Insertion - Frameshift
c.7338G>T; p.K2446N; 16:72795344-72795344	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.8575A>C; p.T2859P; 16:72794107-72794107	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5231C>T; p.T1744M; 16:72797451-72797451	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5231C>T; p.T1744M; 16:72797451-72797451	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5231C>T; p.T1744M; 16:72797451-72797451	prostate	carcinoma	Substitution - Missense
c.1486C>T; p.P496S; 16:72958660-72958660	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6506C>T; p.S2169F; 16:72796176-72796176	skin	malignant_melanoma	Substitution - Missense
c.8968G>A; p.V2990I; 16:72793714-72793714	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3870C>T; p.T1290T; 16:72800124-72800124	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.4380C>T; p.I1460I; 16:72798302-72798302	skin; arm	malignant_melanoma	Substitution - coding silent
c.8029G>A; p.E2677K; 16:72794653-72794653	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3623C>T; p.S1208L; 16:72811945-72811945	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.8029G>A; p.E2677K; 16:72794653-72794653	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.10937G>A; p.C3646Y; 16:72787339-72787339	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.10563C>T; p.G3521G; 16:72787713-72787713	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4712A>G; p.H1571R; 16:72797970-72797970	thyroid	carcinoma	Substitution - Missense
c.9462G>A; p.L3154L; 16:72788814-72788814	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5578A>G; p.I1860V; 16:72797104-72797104	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.10563C>T; p.G3521G; 16:72787713-72787713	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.9051G>A; p.T3017T; 16:72793631-72793631	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2345C>T; p.A782V; 16:72957801-72957801	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5178A>G; p.Q1726Q; 16:72797504-72797504	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.7951G>C; p.E2651Q; 16:72794731-72794731	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.10793delC; p.P3598fs*96; 16:72787483-72787483	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.206G>T; p.G69V; 16:72959940-72959940	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1115G>A; p.R372Q; 16:72959031-72959031	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.10551C>T; p.G3517G; 16:72787725-72787725	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.10551C>T; p.G3517G; 16:72787725-72787725	pancreas	carcinoma	Substitution - coding silent
c.10793delC; p.P3598fs*96; 16:72787483-72787483	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1115G>A; p.R372Q; 16:72959031-72959031	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6965G>A; p.R2322Q; 16:72795717-72795717	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.25G>A; p.V9I; 16:72960121-72960121	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5502_5526del25; p.L1835fs*18; 16:72797156-72797180	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.2459G>A; p.R820H; 16:72957687-72957687	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2179C>T; p.R727C; 16:72957967-72957967	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5576C>T; p.S1859F; 16:72797106-72797106	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3451G>T; p.E1151*; 16:72829857-72829857	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.9001G>T; p.E3001*; 16:72793681-72793681	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1415C>A; p.A472E; 16:72958731-72958731	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.465C>T; p.G155G; 16:72959681-72959681	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2331G>T; p.V777V; 16:72957815-72957815	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1419G>A; p.E473E; 16:72958727-72958727	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.9638C>A; p.P3213Q; 16:72788638-72788638	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4995C>T; p.T1665T; 16:72797687-72797687	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.8753C>G; p.S2918*; 16:72793929-72793929	breast	carcinoma	Substitution - Nonsense
c.8582T>A; p.I2861K; 16:72794100-72794100	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.196G>A; p.A66T; 16:72959950-72959950	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5146G>A; p.A1716T; 16:72797536-72797536	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6397C>T; p.Q2133*; 16:72796285-72796285	skin	malignant_melanoma	Substitution - Nonsense
c.178C>T; p.R60C; 16:72959968-72959968	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.10142_10162del21; p.R3381_Q3387delRQLQQQQ; 16:72788114-72788134	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - In frame
c.9600G>C; p.Q3200H; 16:72788676-72788676	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.6397C>T; p.Q2133*; 16:72796285-72796285	skin	malignant_melanoma	Substitution - Nonsense
c.2492A>G; p.N831S; 16:72957654-72957654	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6481C>T; p.R2161W; 16:72796201-72796201	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.178C>T; p.R60C; 16:72959968-72959968	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7115delT; p.M2372fs*4; 16:72795567-72795567	prostate	adenoma	Deletion - Frameshift
c.880G>A; p.V294I; 16:72959266-72959266	central_nervous_system; thalamus	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.9217C>T; p.R3073C; 16:72793465-72793465	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7437G>A; p.S2479S; 16:72795245-72795245	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.9377T>G; p.L3126R; 16:72793305-72793305	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3539G>A; p.S1180N; 16:72812029-72812029	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.10831delC; p.H3611fs*83; 16:72787445-72787445	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3539G>A; p.S1180N; 16:72812029-72812029	large_intestine; colon	carcinoma	Substitution - Missense
c.10831delC; p.H3611fs*83; 16:72787445-72787445	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.314C>T; p.P105L; 16:72959832-72959832	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.10560C>T; p.G3520G; 16:72787716-72787716	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.9631C>A; p.P3211T; 16:72788645-72788645	skin	malignant_melanoma	Substitution - Missense
c.10560C>T; p.G3520G; 16:72787716-72787716	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6445C>T; p.R2149C; 16:72796237-72796237	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.4259C>T; p.S1420F; 16:72798423-72798423	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.10560C>T; p.G3520G; 16:72787716-72787716	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.10560C>T; p.G3520G; 16:72787716-72787716	skin	malignant_melanoma	Substitution - coding silent
c.5395C>A; p.P1799T; 16:72797287-72797287	liver	carcinoma	Substitution - Missense
c.1577C>G; p.S526*; 16:72958569-72958569	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.7112C>T; p.A2371V; 16:72795570-72795570	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2936T>G; p.V979G; 16:72950749-72950749	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.4315C>T; p.R1439*; 16:72798367-72798367	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.556T>G; p.C186G; 16:72959590-72959590	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.4315C>T; p.R1439*; 16:72798367-72798367	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.9635delC; p.P3212fs*29; 16:72788641-72788641	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4315C>T; p.R1439*; 16:72798367-72798367	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2569G>A; p.A857T; 16:72957577-72957577	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4902C>T; p.G1634G; 16:72797780-72797780	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2673C>A; p.F891L; 16:72957473-72957473	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.7104C>T; p.S2368S; 16:72795578-72795578	skin	malignant_melanoma	Substitution - coding silent
c.269G>T; p.S90I; 16:72959877-72959877	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.7717C>T; p.P2573S; 16:72794965-72794965	skin	malignant_melanoma	Substitution - Missense
c.269G>T; p.S90I; 16:72959877-72959877	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.269G>T; p.S90I; 16:72959877-72959877	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.10557T>C; p.G3519G; 16:72787719-72787719	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.7620G>C; p.P2540P; 16:72795062-72795062	prostate	carcinoma	Substitution - coding silent
c.10557T>C; p.G3519G; 16:72787719-72787719	central_nervous_system; brain	glioma	Substitution - coding silent
c.9695G>A; p.R3232H; 16:72788581-72788581	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.10557T>C; p.G3519G; 16:72787719-72787719	prostate	carcinoma	Substitution - coding silent
c.10557T>C; p.G3519G; 16:72787719-72787719	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.10557T>C; p.G3519G; 16:72787719-72787719	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1670C>T; p.S557F; 16:72958476-72958476	skin	malignant_melanoma	Substitution - Missense
c.3697G>T; p.A1233S; 16:72811744-72811744	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.10857A>C; p.Q3619H; 16:72787419-72787419	oesophagus	carcinoma	Substitution - Missense
c.10557T>C; p.G3519G; 16:72787719-72787719	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.10557T>C; p.G3519G; 16:72787719-72787719	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.10557T>C; p.G3519G; 16:72787719-72787719	central_nervous_system; brain	glioma	Substitution - coding silent
c.142G>T; p.G48W; 16:72960004-72960004	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.9654G>A; p.P3218P; 16:72788622-72788622	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.10557T>C; p.G3519G; 16:72787719-72787719	skin	malignant_melanoma	Substitution - coding silent
c.9378C>T; p.L3126L; 16:72793304-72793304	skin	malignant_melanoma	Substitution - coding silent
c.2106C>G; p.V702V; 16:72958040-72958040	central_nervous_system; brain	glioma	Substitution - coding silent
c.4550C>T; p.S1517L; 16:72798132-72798132	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.10134G>T; p.Q3378H; 16:72788142-72788142	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4550C>T; p.S1517L; 16:72798132-72798132	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.6581G>A; p.R2194K; 16:72796101-72796101	skin	malignant_melanoma	Substitution - Missense
c.7228A>G; p.T2410A; 16:72795454-72795454	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8287G>T; p.D2763Y; 16:72794395-72794395	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2608A>T; p.M870L; 16:72957538-72957538	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2445G>C; p.V815V; 16:72957701-72957701	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.5642T>A; p.V1881D; 16:72797040-72797040	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.10581_10582insGGC; p.G3527_S3528insG; 16:72787694-72787695	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Insertion - In frame
c.10581_10582insGGC; p.G3527_S3528insG; 16:72787694-72787695	skin	malignant_melanoma	Insertion - In frame
c.2097C>G; p.G699G; 16:72958049-72958049	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.6009G>T; p.E2003D; 16:72796673-72796673	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1401G>A; p.E467E; 16:72958745-72958745	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6680G>A; p.R2227Q; 16:72796002-72796002	pancreas	carcinoma	Substitution - Missense
c.9447G>A; p.P3149P; 16:72788829-72788829	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.10360G>A; p.D3454N; 16:72787916-72787916	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7888G>A; p.D2630N; 16:72794794-72794794	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.9447G>A; p.P3149P; 16:72788829-72788829	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1776_1777insTGAC; p.E593fs*1; 16:72958369-72958370	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.9447G>A; p.P3149P; 16:72788829-72788829	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.9447G>A; p.P3149P; 16:72788829-72788829	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.10962G>T; p.S3654S; 16:72787314-72787314	central_nervous_system; brain	glioma	Substitution - coding silent
c.4934T>G; p.I1645S; 16:72797748-72797748	skin	malignant_melanoma	Substitution - Missense
c.2202C>T; p.S734S; 16:72957944-72957944	skin	malignant_melanoma	Substitution - coding silent
c.5196A>G; p.Q1732Q; 16:72797486-72797486	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5970G>A; p.K1990K; 16:72796712-72796712	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.10608C>T; p.S3536S; 16:72787668-72787668	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3327C>T; p.S1109S; 16:72889852-72889852	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1114C>T; p.R372*; 16:72959032-72959032	skin	malignant_melanoma	Substitution - Nonsense
c.5196A>G; p.Q1732Q; 16:72797486-72797486	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2922C>T; p.D974D; 16:72950763-72950763	prostate	carcinoma	Substitution - coding silent
c.1114C>T; p.R372*; 16:72959032-72959032	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2192G>A; p.C731Y; 16:72957954-72957954	skin	malignant_melanoma	Substitution - Missense
c.3875C>G; p.P1292R; 16:72800119-72800119	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5178_5180delACA; p.Q1741delQ; 16:72797502-72797504	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma	Deletion - In frame
c.10321G>T; p.E3441*; 16:72787955-72787955	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.488G>C; p.S163T; 16:72959658-72959658	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2969G>A; p.R990H; 16:72950716-72950716	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2969G>A; p.R990H; 16:72950716-72950716	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.10385A>G; p.Q3462R; 16:72787891-72787891	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9812C>T; p.T3271M; 16:72788464-72788464	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7041G>T; p.Q2347H; 16:72795641-72795641	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.9812C>T; p.T3271M; 16:72788464-72788464	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.8838G>A; p.Q2946Q; 16:72793844-72793844	skin	malignant_melanoma	Substitution - coding silent
c.6296C>T; p.P2099L; 16:72796386-72796386	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6296C>T; p.P2099L; 16:72796386-72796386	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2403_2404insA; p.P802fs*9; 16:72957742-72957743	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.5949C>T; p.L1983L; 16:72796733-72796733	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5949C>T; p.L1983L; 16:72796733-72796733	breast	carcinoma	Substitution - coding silent
c.4388_4400del13; p.L1463fs*21; 16:72798282-72798294	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.10872T>C; p.A3624A; 16:72787404-72787404	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5878T>C; p.Y1960H; 16:72796804-72796804	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.7549C>T; p.P2517S; 16:72795133-72795133	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.8152G>A; p.A2718T; 16:72794530-72794530	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.10872T>C; p.A3624A; 16:72787404-72787404	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.7297G>A; p.A2433T; 16:72795385-72795385	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7479C>T; p.P2493P; 16:72795203-72795203	skin	malignant_melanoma	Substitution - coding silent
c.575C>T; p.P192L; 16:72959571-72959571	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.9120T>C; p.R3040R; 16:72793562-72793562	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1162G>A; p.E388K; 16:72958984-72958984	liver	carcinoma	Substitution - Missense
c.7251C>T; p.A2417A; 16:72795431-72795431	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.530C>T; p.A177V; 16:72959616-72959616	oesophagus	carcinoma	Substitution - Missense
c.1162G>A; p.E388K; 16:72958984-72958984	liver	carcinoma	Substitution - Missense
c.6483_6490delGCAATATT; p.Q2162fs*1; 16:72796192-72796199	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4783C>G; p.P1595A; 16:72797899-72797899	thyroid	carcinoma	Substitution - Missense
c.2348_2349insGGC; p.A784_N785insA; 16:72957797-72957798	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Insertion - In frame
c.8302A>T; p.T2768S; 16:72794380-72794380	skin	malignant_melanoma	Substitution - Missense
c.4711C>T; p.H1571Y; 16:72797971-72797971	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5053A>G; p.T1685A; 16:72797629-72797629	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.10647G>T; p.E3549D; 16:72787629-72787629	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7668_7669delGC; p.Q2557fs*21; 16:72795013-72795014	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.6385G>A; p.A2129T; 16:72796297-72796297	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1125G>A; p.G375G; 16:72959021-72959021	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2709G>A; p.T903T; 16:72957437-72957437	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1837G>A; p.D613N; 16:72958309-72958309	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4794T>C; p.C1598C; 16:72797888-72797888	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1837G>A; p.D613N; 16:72958309-72958309	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.10570_10581del12; p.G3524_G3527delGGGG; 16:72787695-72787706	large_intestine	carcinoma; adenocarcinoma	Deletion - In frame
c.7668_7669delGC; p.Q2557fs*21; 16:72795013-72795014	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.2683C>T; p.P895S; 16:72957463-72957463	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9882G>A; p.A3294A; 16:72788394-72788394	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7547C>T; p.T2516I; 16:72795135-72795135	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5689G>A; p.E1897K; 16:72796993-72796993	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.562G>T; p.A188S; 16:72959584-72959584	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1256C>T; p.P419L; 16:72958890-72958890	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9368C>T; p.P3123L; 16:72793314-72793314	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3193G>C; p.E1065Q; 16:72950492-72950492	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.10699G>C; p.E3567Q; 16:72787577-72787577	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.10237G>C; p.D3413H; 16:72788039-72788039	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1256C>T; p.P419L; 16:72958890-72958890	skin	malignant_melanoma	Substitution - Missense
c.3193G>C; p.E1065Q; 16:72950492-72950492	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.459C>T; p.G153G; 16:72959687-72959687	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6297G>A; p.P2099P; 16:72796385-72796385	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3167G>A; p.R1056Q; 16:72950518-72950518	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6122C>T; p.P2041L; 16:72796560-72796560	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.554C>T; p.S185L; 16:72959592-72959592	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9011C>A; p.S3004Y; 16:72793671-72793671	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1864C>T; p.H622Y; 16:72958282-72958282	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.10533T>C; p.G3511G; 16:72787743-72787743	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2734C>T; p.P912S; 16:72950951-72950951	skin	malignant_melanoma	Substitution - Missense
c.1258delC; p.L420fs*37; 16:72958888-72958888	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5770G>C; p.G1924R; 16:72796912-72796912	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3663+1G>A; p.?; 16:72811904-72811904	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Unknown
c.9747G>T; p.G3249G; 16:72788529-72788529	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2385G>C; p.P795P; 16:72957761-72957761	thyroid	other; neoplasm	Substitution - coding silent
c.9638C>T; p.P3213L; 16:72788638-72788638	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2385G>C; p.P795P; 16:72957761-72957761	thyroid	other; neoplasm	Substitution - coding silent
c.2536C>T; p.R846C; 16:72957610-72957610	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.7343G>C; p.G2448A; 16:72795339-72795339	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2385G>C; p.P795P; 16:72957761-72957761	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.10098A>G; p.Q3366Q; 16:72788178-72788178	large_intestine; rectum	adenoma	Substitution - coding silent
c.2536C>T; p.R846C; 16:72957610-72957610	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2536C>T; p.R846C; 16:72957610-72957610	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8179G>T; p.E2727*; 16:72794503-72794503	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.7105A>G; p.M2369V; 16:72795577-72795577	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.342C>T; p.S114S; 16:72959804-72959804	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1378G>C; p.E460Q; 16:72958768-72958768	thyroid	other; neoplasm	Substitution - Missense
c.1378G>C; p.E460Q; 16:72958768-72958768	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.10557_10577del21; p.G3521_G3527delGGGGGGG; 16:72787699-72787719	large_intestine	carcinoma; adenocarcinoma	Deletion - In frame
c.8176C>T; p.L2726F; 16:72794506-72794506	NS	NS	Substitution - Missense
c.6446G>A; p.R2149H; 16:72796236-72796236	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3296C>T; p.A1099V; 16:72889883-72889883	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.6446G>A; p.R2149H; 16:72796236-72796236	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.901G>A; p.A301T; 16:72959245-72959245	breast	carcinoma	Substitution - Missense
c.2579A>T; p.E860V; 16:72957567-72957567	liver	carcinoma	Substitution - Missense
c.1200G>T; p.L400L; 16:72958946-72958946	liver	carcinoma	Substitution - coding silent
c.10810G>A; p.A3604T; 16:72787466-72787466	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2579A>T; p.E860V; 16:72957567-72957567	liver	carcinoma	Substitution - Missense
c.3296C>T; p.A1099V; 16:72889883-72889883	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.5461G>A; p.A1821T; 16:72797221-72797221	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5512C>T; p.Q1838*; 16:72797170-72797170	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.5962T>A; p.C1988S; 16:72796720-72796720	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6251C>A; p.P2084Q; 16:72796431-72796431	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3173A>G; p.H1058R; 16:72950512-72950512	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.7948C>T; p.P2650S; 16:72794734-72794734	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5074C>G; p.P1692A; 16:72797608-72797608	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6144A>C; p.P2048P; 16:72796538-72796538	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.10584G>C; p.S3528S; 16:72787692-72787692	kidney	other; neoplasm	Substitution - coding silent
c.6144A>C; p.P2048P; 16:72796538-72796538	skin	malignant_melanoma	Substitution - coding silent
c.10360G>T; p.D3454Y; 16:72787916-72787916	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6144A>C; p.P2048P; 16:72796538-72796538	skin	malignant_melanoma	Substitution - coding silent
c.9818C>G; p.S3273*; 16:72788458-72788458	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Nonsense
c.1968C>T; p.G656G; 16:72958178-72958178	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1540G>A; p.A514T; 16:72958606-72958606	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.8350C>T; p.P2784S; 16:72794332-72794332	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6135A>C; p.P2045P; 16:72796547-72796547	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.6135A>C; p.P2045P; 16:72796547-72796547	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.5962T>C; p.C1988R; 16:72796720-72796720	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3026T>G; p.V1009G; 16:72950659-72950659	skin	malignant_melanoma	Substitution - Missense
c.3355C>T; p.R1119*; 16:72889824-72889824	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.8201A>G; p.H2734R; 16:72794481-72794481	prostate	carcinoma	Substitution - Missense
c.9416C>T; p.P3139L; 16:72793266-72793266	skin	malignant_melanoma	Substitution - Missense
c.6824delT; p.L2275fs*5; 16:72795858-72795858	prostate	carcinoma	Deletion - Frameshift
c.9719T>A; p.V3240E; 16:72788557-72788557	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3065G>A; p.G1022D; 16:72950620-72950620	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3065G>A; p.G1022D; 16:72950620-72950620	thyroid	carcinoma	Substitution - Missense
c.8211A>C; p.E2737D; 16:72794471-72794471	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.908A>G; p.H303R; 16:72959238-72959238	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.6952G>A; p.D2318N; 16:72795730-72795730	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6640C>T; p.P2214S; 16:72796042-72796042	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5462C>T; p.A1821V; 16:72797220-72797220	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.6952G>A; p.D2318N; 16:72795730-72795730	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5339T>G; p.F1780C; 16:72797343-72797343	prostate	carcinoma	Substitution - Missense
c.6684C>T; p.P2228P; 16:72795998-72795998	skin	malignant_melanoma	Substitution - coding silent
c.9106C>T; p.R3036W; 16:72793576-72793576	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.9106C>T; p.R3036W; 16:72793576-72793576	urinary_tract; bladder	carcinoma	Substitution - Missense
c.10554C>T; p.G3518G; 16:72787722-72787722	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.9107G>A; p.R3036Q; 16:72793575-72793575	stomach	adenocarcinoma	Substitution - Missense
c.3102C>T; p.I1034I; 16:72950583-72950583	breast	carcinoma	Substitution - coding silent
c.8192G>A; p.R2731Q; 16:72794490-72794490	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1935C>T; p.C645C; 16:72958211-72958211	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4645G>A; p.V1549I; 16:72798037-72798037	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2022C>T; p.P674P; 16:72958124-72958124	breast	carcinoma	Substitution - coding silent
c.9750A>T; p.K3250N; 16:72788526-72788526	skin	malignant_melanoma	Substitution - Missense
c.7606A>C; p.K2536Q; 16:72795076-72795076	kidney	other; neoplasm	Substitution - Missense
c.6456C>G; p.I2152M; 16:72796226-72796226	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.10523G>A; p.G3508D; 16:72787753-72787753	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1706G>A; p.R569H; 16:72958440-72958440	central_nervous_system; frontal_lobe	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.5985C>A; p.I1995I; 16:72796697-72796697	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.5221_5223delCAA; p.Q1741delQ; 16:72797459-72797461	breast	carcinoma	Deletion - In frame
c.7077G>A; p.G2359G; 16:72795605-72795605	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6472C>T; p.R2158*; 16:72796210-72796210	breast	carcinoma	Substitution - Nonsense
c.5221_5223delCAA; p.Q1741delQ; 16:72797459-72797461	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.8646A>G; p.A2882A; 16:72794036-72794036	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5221_5223delCAA; p.Q1741delQ; 16:72797459-72797461	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - In frame
c.1923G>A; p.E641E; 16:72958223-72958223	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2487G>A; p.M829I; 16:72957659-72957659	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7882G>A; p.E2628K; 16:72794800-72794800	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7882G>A; p.E2628K; 16:72794800-72794800	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5710G>A; p.G1904S; 16:72796972-72796972	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5037_5038insA; p.L1680fs*7; 16:72797644-72797645	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.3006C>T; p.H1002H; 16:72950679-72950679	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.9193G>T; p.E3065*; 16:72793489-72793489	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3656C>T; p.P1219L; 16:72811912-72811912	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6103C>T; p.Q2035*; 16:72796579-72796579	breast	carcinoma	Substitution - Nonsense
c.2251C>A; p.L751I; 16:72957895-72957895	pancreas	carcinoma	Substitution - Missense
c.8854C>G; p.Q2952E; 16:72793828-72793828	breast	carcinoma	Substitution - Missense
c.10492C>T; p.Q3498*; 16:72787784-72787784	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1586G>C; p.S529T; 16:72958560-72958560	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.4894G>A; p.A1632T; 16:72797788-72797788	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2650G>C; p.A884P; 16:72957496-72957496	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma	Substitution - Missense
c.486_491delCAGTGG; p.S163_G164delSG; 16:72959655-72959660	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - In frame
c.7605T>C; p.C2535C; 16:72795077-72795077	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3641C>G; p.A1214G; 16:72811927-72811927	thyroid	carcinoma	Substitution - Missense
c.1341C>T; p.G447G; 16:72958805-72958805	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.11104A>T; p.R3702*; 16:72787172-72787172	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.335G>A; p.S112N; 16:72959811-72959811	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3557T>G; p.L1186R; 16:72812011-72812011	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.665C>T; p.A222V; 16:72959481-72959481	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.10616G>A; p.C3539Y; 16:72787660-72787660	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.7151C>T; p.T2384I; 16:72795531-72795531	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.608C>T; p.S203F; 16:72959538-72959538	skin	malignant_melanoma	Substitution - Missense
c.2686G>A; p.A896T; 16:72957460-72957460	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.376G>T; p.V126L; 16:72959770-72959770	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2686G>A; p.A896T; 16:72957460-72957460	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.8451C>T; p.S2817S; 16:72794231-72794231	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4417C>T; p.L1473F; 16:72798265-72798265	lung	carcinoma	Substitution - Missense
c.1896G>T; p.G632G; 16:72958250-72958250	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.4417C>T; p.L1473F; 16:72798265-72798265	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6938G>A; p.R2313H; 16:72795744-72795744	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6784G>A; p.D2262N; 16:72795898-72795898	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8358A>G; p.S2786S; 16:72794324-72794324	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.10920G>A; p.T3640T; 16:72787356-72787356	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5696G>T; p.G1899V; 16:72796986-72796986	skin	malignant_melanoma	Substitution - Missense
c.6938G>A; p.R2313H; 16:72795744-72795744	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6784G>A; p.D2262N; 16:72795898-72795898	skin	malignant_melanoma	Substitution - Missense
c.5612G>A; p.S1871N; 16:72797070-72797070	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6996delA; p.K2332fs*44; 16:72795686-72795686	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.10346C>T; p.A3449V; 16:72787930-72787930	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1031A>T; p.N344I; 16:72959115-72959115	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.612C>T; p.F204F; 16:72959534-72959534	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3925C>T; p.R1309*; 16:72800069-72800069	skin	malignant_melanoma	Substitution - Nonsense
c.1425_1430delGGAGGA; p.E486_E487delEE; 16:72958716-72958721	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Deletion - In frame
c.5800C>T; p.P1934S; 16:72796882-72796882	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5518C>G; p.Q1840E; 16:72797164-72797164	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1777G>T; p.E593*; 16:72958369-72958369	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.987C>T; p.I329I; 16:72959159-72959159	skin	malignant_melanoma	Substitution - coding silent
c.1562delA; p.K521fs*15; 16:72958584-72958584	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.8993G>A; p.R2998Q; 16:72793689-72793689	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1274C>T; p.S425F; 16:72958872-72958872	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7544C>G; p.S2515*; 16:72795138-72795138	breast	carcinoma	Substitution - Nonsense
c.343G>A; p.D115N; 16:72959803-72959803	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2257A>G; p.N753D; 16:72957889-72957889	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2257A>G; p.N753D; 16:72957889-72957889	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.7484C>T; p.P2495L; 16:72795198-72795198	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.11016C>T; p.S3672S; 16:72787260-72787260	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4595A>G; p.N1532S; 16:72798087-72798087	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1930A>T; p.K644*; 16:72958216-72958216	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.361G>T; p.D121Y; 16:72959785-72959785	central_nervous_system; brain	glioma	Substitution - Missense
c.6791A>C; p.N2264T; 16:72795891-72795891	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2330_2332delTGG; p.V777delV; 16:72957814-72957816	large_intestine	carcinoma; adenocarcinoma	Deletion - In frame
c.9197A>G; p.Y3066C; 16:72793485-72793485	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2330_2332delTGG; p.V777delV; 16:72957814-72957816	skin	malignant_melanoma	Deletion - In frame
c.5345T>A; p.M1782K; 16:72797337-72797337	skin	malignant_melanoma	Substitution - Missense
c.9214G>A; p.V3072I; 16:72793468-72793468	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2330_2332delTGG; p.V777delV; 16:72957814-72957816	large_intestine	carcinoma; adenocarcinoma	Deletion - In frame
c.694C>T; p.R232C; 16:72959452-72959452	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6649_6650insCTCCTATC; p.S2218fs*40; 16:72796032-72796033	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.555G>A; p.S185S; 16:72959591-72959591	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1093delT; p.Y365fs*31; 16:72959053-72959053	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.694C>T; p.R232C; 16:72959452-72959452	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1434A>G; p.E478E; 16:72958712-72958712	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3877G>A; p.E1293K; 16:72800117-72800117	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1416G>A; p.A472A; 16:72958730-72958730	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.10654T>C; p.L3552L; 16:72787622-72787622	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.9540C>T; p.S3180S; 16:72788736-72788736	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.7228A>T; p.T2410S; 16:72795454-72795454	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2725G>T; p.G909C; 16:72950960-72950960	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.5478delG; p.T1827fs*9; 16:72797204-72797204	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.7557G>T; p.Q2519H; 16:72795125-72795125	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6242C>T; p.P2081L; 16:72796440-72796440	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7893T>G; p.S2631R; 16:72794789-72794789	breast	carcinoma	Substitution - Missense
c.2820G>A; p.P940P; 16:72950865-72950865	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.879C>A; p.Y293*; 16:72959267-72959267	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4225G>T; p.A1409S; 16:72798457-72798457	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6501C>T; p.N2167N; 16:72796181-72796181	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6395A>G; p.Y2132C; 16:72796287-72796287	breast	carcinoma	Substitution - Missense
c.5136G>A; p.R1712R; 16:72797546-72797546	breast	carcinoma	Substitution - coding silent
c.775G>A; p.D259N; 16:72959371-72959371	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.10791C>T; p.P3597P; 16:72787485-72787485	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.9345T>G; p.Y3115*; 16:72793337-72793337	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1069C>A; p.L357I; 16:72959077-72959077	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.4006G>A; p.A1336T; 16:72798676-72798676	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4006G>A; p.A1336T; 16:72798676-72798676	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.10605G>A; p.E3535E; 16:72787671-72787671	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.214T>G; p.S72A; 16:72959932-72959932	thyroid	other; neoplasm	Substitution - Missense
c.214T>G; p.S72A; 16:72959932-72959932	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.214T>G; p.S72A; 16:72959932-72959932	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4006G>A; p.A1336T; 16:72798676-72798676	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3111C>T; p.P1037P; 16:72950574-72950574	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2322_2333del12; p.V777_A780delVAAA; 16:72957813-72957824	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - In frame
c.6890C>T; p.A2297V; 16:72795792-72795792	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2771C>T; p.S924L; 16:72950914-72950914	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.5637A>T; p.K1879N; 16:72797045-72797045	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.10974C>T; p.D3658D; 16:72787302-72787302	skin	malignant_melanoma	Substitution - coding silent
c.10402C>T; p.R3468C; 16:72787874-72787874	pancreas	carcinoma	Substitution - Missense
c.10445G>T; p.S3482I; 16:72787831-72787831	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2537G>A; p.R846H; 16:72957609-72957609	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2537G>A; p.R846H; 16:72957609-72957609	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5202A>G; p.Q1734Q; 16:72797480-72797480	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7400C>T; p.P2467L; 16:72795282-72795282	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2466C>A; p.H822Q; 16:72957680-72957680	thyroid	other; neoplasm	Substitution - Missense
c.11024C>A; p.P3675Q; 16:72787252-72787252	lung	carcinoma; large_cell_carcinoma	Substitution - Missense
c.2486T>C; p.M829T; 16:72957660-72957660	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3977A>G; p.E1326G; 16:72798705-72798705	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1602C>T; p.P534P; 16:72958544-72958544	pancreas	carcinoma; adenocarcinoma	Substitution - coding silent
c.8502C>G; p.D2834E; 16:72794180-72794180	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.8080G>A; p.A2694T; 16:72794602-72794602	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1187C>T; p.T396I; 16:72958959-72958959	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2805C>G; p.I935M; 16:72950880-72950880	ovary	carcinoma; adenocarcinoma	Substitution - Missense
c.10750G>A; p.A3584T; 16:72787526-72787526	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3413T>A; p.I1138N; 16:72889766-72889766	breast	carcinoma	Substitution - Missense
c.423G>A; p.A141A; 16:72959723-72959723	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.423G>A; p.A141A; 16:72959723-72959723	breast	carcinoma	Substitution - coding silent
c.2568C>T; p.P856P; 16:72957578-72957578	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.488G>A; p.S163N; 16:72959658-72959658	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2328G>A; p.A776A; 16:72957818-72957818	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.8342A>G; p.Q2781R; 16:72794340-72794340	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.8950_8951GG>AA; p.G2984K; 16:72793731-72793732	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8342A>G; p.Q2781R; 16:72794340-72794340	liver	carcinoma	Substitution - Missense
c.1721G>C; p.S574T; 16:72958425-72958425	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.887C>T; p.S296L; 16:72959259-72959259	skin	malignant_melanoma	Substitution - Missense
c.7239T>C; p.A2413A; 16:72795443-72795443	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.7239T>C; p.A2413A; 16:72795443-72795443	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.10318G>A; p.E3440K; 16:72787958-72787958	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.392G>A; p.G131E; 16:72959754-72959754	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.10584G>A; p.S3528S; 16:72787692-72787692	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1635G>T; p.R545S; 16:72958511-72958511	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.946A>C; p.I316L; 16:72959200-72959200	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3356G>A; p.R1119Q; 16:72889823-72889823	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5222_5223insCAA; p.Q1741>HK; 16:72797459-72797460	large_intestine; caecum	carcinoma; adenocarcinoma	Complex - insertion inframe
c.3680A>G; p.Y1227C; 16:72811761-72811761	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.716A>G; p.K239R; 16:72959430-72959430	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5222_5223insCAA; p.Q1741>HK; 16:72797459-72797460	large_intestine; colon	carcinoma; adenocarcinoma	Complex - insertion inframe
c.1615G>A; p.V539M; 16:72958531-72958531	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3356G>A; p.R1119Q; 16:72889823-72889823	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1615G>A; p.V539M; 16:72958531-72958531	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.9609_9611delGCA; p.Q3204delQ; 16:72788665-72788667	lung	carcinoma; adenocarcinoma	Deletion - In frame
c.9609_9611delGCA; p.Q3204delQ; 16:72788665-72788667	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.2972A>T; p.Y991F; 16:72950713-72950713	thyroid	other; neoplasm	Substitution - Missense
c.4137G>A; p.T1379T; 16:72798545-72798545	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.10034G>A; p.S3345N; 16:72788242-72788242	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5997G>C; p.K1999N; 16:72796685-72796685	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.8970_8971insT; p.Q2991fs*30; 16:72793711-72793712	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.10761G>A; p.S3587S; 16:72787515-72787515	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2144G>A; p.R715Q; 16:72958002-72958002	skin	malignant_melanoma	Substitution - Missense
c.9205C>A; p.P3069T; 16:72793477-72793477	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.9205C>A; p.P3069T; 16:72793477-72793477	large_intestine; colon	carcinoma	Substitution - Missense
c.9205C>A; p.P3069T; 16:72793477-72793477	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.7847G>A; p.R2616K; 16:72794835-72794835	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.10881G>A; p.A3627A; 16:72787395-72787395	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.8795G>A; p.G2932E; 16:72793887-72793887	skin	malignant_melanoma	Substitution - Missense
c.3611C>A; p.S1204Y; 16:72811957-72811957	skin	malignant_melanoma	Substitution - Missense
c.2603A>T; p.Q868L; 16:72957543-72957543	breast	carcinoma	Substitution - Missense
c.8303C>G; p.T2768S; 16:72794379-72794379	liver	carcinoma	Substitution - Missense
c.466G>A; p.A156T; 16:72959680-72959680	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.8303C>G; p.T2768S; 16:72794379-72794379	liver	carcinoma	Substitution - Missense
c.1198C>T; p.L400L; 16:72958948-72958948	skin	malignant_melanoma	Substitution - coding silent
c.1324G>A; p.E442K; 16:72958822-72958822	urinary_tract; bladder	carcinoma	Substitution - Missense
c.98C>A; p.P33H; 16:72960048-72960048	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2911C>T; p.L971L; 16:72950774-72950774	skin	malignant_melanoma	Substitution - coding silent
c.8147_8148GC>TT; p.C2716>?; 16:72794534-72794535	large_intestine; colon	carcinoma; adenocarcinoma	Complex
c.4436_4437CC>TT; p.P1479L; 16:72798245-72798246	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3629G>A; p.R1210Q; 16:72811939-72811939	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.305C>T; p.A102V; 16:72959841-72959841	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3856A>G; p.I1286V; 16:72811585-72811585	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4316G>A; p.R1439Q; 16:72798366-72798366	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1148C>T; p.S383F; 16:72958998-72958998	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1148C>T; p.S383F; 16:72958998-72958998	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1305C>T; p.D435D; 16:72958841-72958841	pancreas	carcinoma	Substitution - coding silent
c.1148C>T; p.S383F; 16:72958998-72958998	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4949C>A; p.S1650Y; 16:72797733-72797733	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.184G>A; p.A62T; 16:72959962-72959962	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.402C>T; p.V134V; 16:72959744-72959744	skin	malignant_melanoma	Substitution - coding silent
c.7299G>A; p.A2433A; 16:72795383-72795383	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5696G>C; p.G1899A; 16:72796986-72796986	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7299G>A; p.A2433A; 16:72795383-72795383	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4447G>T; p.E1483*; 16:72798235-72798235	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Nonsense
c.5774G>T; p.G1925V; 16:72796908-72796908	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1754G>A; p.G585D; 16:72958392-72958392	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.4140delT; p.F1381fs*44; 16:72798542-72798542	prostate	carcinoma	Deletion - Frameshift
c.1691C>T; p.A564V; 16:72958455-72958455	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3322C>T; p.R1108C; 16:72889857-72889857	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.9341C>G; p.A3114G; 16:72793341-72793341	central_nervous_system; brain	glioma	Substitution - Missense
c.3322C>T; p.R1108C; 16:72889857-72889857	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.7233G>A; p.A2411A; 16:72795449-72795449	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.8478_8479CC>TT; p.Q2827*; 16:72794203-72794204	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.8579G>A; p.G2860E; 16:72794103-72794103	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3220C>G; p.L1074V; 16:72889959-72889959	pancreas	carcinoma	Substitution - Missense
c.54C>T; p.I18I; 16:72960092-72960092	pancreas	carcinoma	Substitution - coding silent
c.6477C>T; p.V2159V; 16:72796205-72796205	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.8579G>A; p.G2860E; 16:72794103-72794103	skin	malignant_melanoma	Substitution - Missense
c.7155G>A; p.P2385P; 16:72795527-72795527	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2295C>T; p.V765V; 16:72957851-72957851	liver	carcinoma	Substitution - coding silent
c.6686C>A; p.P2229H; 16:72795996-72795996	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8579G>A; p.G2860E; 16:72794103-72794103	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.255G>A; p.S85S; 16:72959891-72959891	prostate	carcinoma	Substitution - coding silent
c.10425C>T; p.S3475S; 16:72787851-72787851	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2968C>A; p.R990S; 16:72950717-72950717	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.9006G>T; p.K3002N; 16:72793676-72793676	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.10603G>T; p.E3535*; 16:72787673-72787673	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.9006G>T; p.K3002N; 16:72793676-72793676	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4627C>T; p.R1543C; 16:72798055-72798055	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.10760C>T; p.S3587L; 16:72787516-72787516	breast	carcinoma	Substitution - Missense
c.9639G>T; p.P3213P; 16:72788637-72788637	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5199A>G; p.Q1733Q; 16:72797483-72797483	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.5199A>G; p.Q1733Q; 16:72797483-72797483	thyroid	other; neoplasm	Substitution - coding silent
c.1078C>T; p.P360S; 16:72959068-72959068	skin	malignant_melanoma	Substitution - Missense
c.1957C>T; p.R653C; 16:72958189-72958189	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3420C>T; p.T1140T; 16:72889759-72889759	skin	malignant_melanoma	Substitution - coding silent
c.5677_5678delAG; p.R1893fs*35; 16:72797004-72797005	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.6324G>A; p.Q2108Q; 16:72796358-72796358	breast	carcinoma	Substitution - coding silent
c.5677_5678delAG; p.R1893fs*35; 16:72797004-72797005	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1848_1849insTTC; p.F616_V617insF; 16:72958297-72958298	endometrium	carcinoma; endometrioid_carcinoma	Insertion - In frame
c.5677_5678delAG; p.R1893fs*35; 16:72797004-72797005	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.5677_5678delAG; p.R1893fs*35; 16:72797004-72797005	breast	carcinoma	Deletion - Frameshift
c.1771G>T; p.A591S; 16:72958375-72958375	prostate	carcinoma	Substitution - Missense
c.5677_5678delAG; p.R1893fs*35; 16:72797004-72797005	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.4497G>A; p.L1499L; 16:72798185-72798185	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7980T>G; p.Y2660*; 16:72794702-72794702	prostate	carcinoma	Substitution - Nonsense
c.5677_5678delAG; p.R1893fs*35; 16:72797004-72797005	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1705C>T; p.R569C; 16:72958441-72958441	skin	malignant_melanoma	Substitution - Missense
c.9611_9612insGCA; p.Q3204_P3205insQ; 16:72788664-72788665	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - In frame
c.1281T>C; p.P427P; 16:72958865-72958865	liver	carcinoma	Substitution - coding silent
c.1921G>A; p.E641K; 16:72958225-72958225	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2084C>T; p.P695L; 16:72958062-72958062	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.9612_9613insGCA; p.Q3204_P3205insA; 16:72788663-72788664	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.5556G>A; p.Q1852Q; 16:72797126-72797126	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.7783C>T; p.Q2595*; 16:72794899-72794899	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3221T>C; p.L1074P; 16:72889958-72889958	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2096delG; p.G699fs*125; 16:72958050-72958050	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.200C>T; p.S67L; 16:72959946-72959946	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7783C>T; p.Q2595*; 16:72794899-72794899	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.9612_9613insGCA; p.Q3204_P3205insA; 16:72788663-72788664	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.6911A>G; p.Q2304R; 16:72795771-72795771	thyroid	carcinoma	Substitution - Missense
c.8199T>C; p.R2733R; 16:72794483-72794483	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1940C>T; p.T647M; 16:72958206-72958206	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.185C>T; p.A62V; 16:72959961-72959961	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3021G>A; p.K1007K; 16:72950664-72950664	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1959C>G; p.R653R; 16:72958187-72958187	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.6985C>A; p.Q2329K; 16:72795697-72795697	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.9906G>A; p.L3302L; 16:72788370-72788370	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.8707A>G; p.S2903G; 16:72793975-72793975	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.7044G>T; p.K2348N; 16:72795638-72795638	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6783C>T; p.F2261F; 16:72795899-72795899	skin	malignant_melanoma	Substitution - coding silent
c.2571C>T; p.A857A; 16:72957575-72957575	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.900C>T; p.H300H; 16:72959246-72959246	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5569C>G; p.Q1857E; 16:72797113-72797113	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.5223_5224insCAA; p.Q1741_A1742insQ; 16:72797458-72797459	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - In frame
c.2472C>T; p.T824T; 16:72957674-72957674	breast	carcinoma	Substitution - coding silent
c.5223_5224insCAA; p.Q1741_A1742insQ; 16:72797458-72797459	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - In frame
c.1142C>T; p.A381V; 16:72959004-72959004	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4176G>A; p.P1392P; 16:72798506-72798506	thyroid	other; neoplasm	Substitution - coding silent
c.8125G>T; p.A2709S; 16:72794557-72794557	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6822A>T; p.Q2274H; 16:72795860-72795860	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4327G>A; p.A1443T; 16:72798355-72798355	skin	malignant_melanoma	Substitution - Missense
c.8433A>C; p.E2811D; 16:72794249-72794249	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2310C>T; p.A770A; 16:72957836-72957836	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.4204C>T; p.R1402C; 16:72798478-72798478	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4204C>T; p.R1402C; 16:72798478-72798478	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4204C>T; p.R1402C; 16:72798478-72798478	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.8447C>T; p.P2816L; 16:72794235-72794235	skin	malignant_melanoma	Substitution - Missense
c.7029C>T; p.L2343L; 16:72795653-72795653	liver	carcinoma	Substitution - coding silent
c.10826C>T; p.S3609F; 16:72787450-72787450	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5432C>T; p.P1811L; 16:72797250-72797250	skin	malignant_melanoma	Substitution - Missense
c.10064T>C; p.L3355P; 16:72788212-72788212	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.212_213CC>TT; p.P71L; 16:72959933-72959934	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1803A>T; p.T601T; 16:72958343-72958343	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.3339G>A; p.Q1113Q; 16:72889840-72889840	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.931G>A; p.E311K; 16:72959215-72959215	NS	malignant_melanoma	Substitution - Missense
c.10139_10141delAGC; p.Q3380delQ; 16:72788135-72788137	lung	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.1226C>T; p.S409L; 16:72958920-72958920	skin	malignant_melanoma	Substitution - Missense
c.5329C>T; p.L1777F; 16:72797353-72797353	skin	malignant_melanoma	Substitution - Missense
c.10859T>G; p.V3620G; 16:72787417-72787417	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.5284C>T; p.Q1762*; 16:72797398-72797398	skin; abdomen	malignant_melanoma	Substitution - Nonsense
c.7369C>T; p.Q2457*; 16:72795313-72795313	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.6096G>A; p.L2032L; 16:72796586-72796586	skin	malignant_melanoma	Substitution - coding silent
c.7673A>G; p.N2558S; 16:72795009-72795009	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3758G>A; p.R1253H; 16:72811683-72811683	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2790G>C; p.L930L; 16:72950895-72950895	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.625G>C; p.E209Q; 16:72959521-72959521	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.7212C>T; p.S2404S; 16:72795470-72795470	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.8246C>T; p.A2749V; 16:72794436-72794436	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.8246C>T; p.A2749V; 16:72794436-72794436	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4100G>A; p.C1367Y; 16:72798582-72798582	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4654G>A; p.E1552K; 16:72798028-72798028	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9130T>G; p.F3044V; 16:72793552-72793552	lung	carcinoma; large_cell_carcinoma	Substitution - Missense
c.10535G>A; p.G3512D; 16:72787741-72787741	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5456G>T; p.S1819I; 16:72797226-72797226	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3277T>C; p.C1093R; 16:72889902-72889902	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.8849G>A; p.R2950H; 16:72793833-72793833	stomach	adenocarcinoma	Substitution - Missense
c.4109T>G; p.V1370G; 16:72798573-72798573	breast	carcinoma	Substitution - Missense
c.8198G>A; p.R2733H; 16:72794484-72794484	skin	malignant_melanoma	Substitution - Missense
c.5193G>T; p.Q1731H; 16:72797489-72797489	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.10688delG; p.R3563fs*131; 16:72787588-72787588	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.7201A>C; p.T2401P; 16:72795481-72795481	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8821G>A; p.G2941R; 16:72793861-72793861	large_intestine; colon	carcinoma	Substitution - Missense
c.10983G>A; p.S3661S; 16:72787293-72787293	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.8821G>A; p.G2941R; 16:72793861-72793861	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2997C>T; p.F999F; 16:72950688-72950688	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1464C>A; p.D488E; 16:72958682-72958682	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.884G>A; p.R295H; 16:72959262-72959262	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.10599G>A; p.A3533A; 16:72787677-72787677	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1777G>A; p.E593K; 16:72958369-72958369	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7502C>A; p.P2501H; 16:72795180-72795180	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3244G>A; p.E1082K; 16:72889935-72889935	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4861_4862insC; p.Q1621fs*41; 16:72797820-72797821	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.2287delG; p.E763fs*61; 16:72957859-72957859	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2287delG; p.E763fs*61; 16:72957859-72957859	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2287delG; p.E763fs*61; 16:72957859-72957859	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.10512C>T; p.V3504V; 16:72787764-72787764	skin	malignant_melanoma	Substitution - coding silent
c.1464C>A; p.D488E; 16:72958682-72958682	breast	carcinoma	Substitution - Missense
c.1407G>A; p.E469E; 16:72958739-72958739	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.8557G>A; p.A2853T; 16:72794125-72794125	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3303C>G; p.L1101L; 16:72889876-72889876	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1499A>T; p.D500V; 16:72958647-72958647	liver	carcinoma	Substitution - Missense
c.8557G>A; p.A2853T; 16:72794125-72794125	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.8557G>A; p.A2853T; 16:72794125-72794125	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5193G>A; p.Q1731Q; 16:72797489-72797489	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2687C>T; p.A896V; 16:72957459-72957459	skin	malignant_melanoma	Substitution - Missense
c.7252A>C; p.T2418P; 16:72795430-72795430	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9784G>A; p.G3262R; 16:72788492-72788492	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3716G>T; p.R1239L; 16:72811725-72811725	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2875G>T; p.D959Y; 16:72950810-72950810	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4876G>A; p.A1626T; 16:72797806-72797806	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2315C>T; p.A772V; 16:72957831-72957831	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.8335G>A; p.D2779N; 16:72794347-72794347	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2875G>T; p.D959Y; 16:72950810-72950810	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.91C>A; p.H31N; 16:72960055-72960055	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6185C>T; p.P2062L; 16:72796497-72796497	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3135T>C; p.C1045C; 16:72950550-72950550	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2979C>T; p.T993T; 16:72950706-72950706	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3075C>T; p.N1025N; 16:72950610-72950610	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.164C>A; p.A55D; 16:72959982-72959982	ovary	other; neoplasm	Substitution - Missense
c.678C>T; p.P226P; 16:72959468-72959468	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4136C>T; p.T1379M; 16:72798546-72798546	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.9976G>A; p.A3326T; 16:72788300-72788300	urinary_tract; bladder	carcinoma	Substitution - Missense
c.164C>A; p.A55D; 16:72959982-72959982	ovary	other; neoplasm	Substitution - Missense
c.9976G>A; p.A3326T; 16:72788300-72788300	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.164C>A; p.A55D; 16:72959982-72959982	ovary	other; neoplasm	Substitution - Missense
c.9976G>A; p.A3326T; 16:72788300-72788300	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3340C>T; p.R1114*; 16:72889839-72889839	pancreas	carcinoma	Substitution - Nonsense
c.470G>T; p.C157F; 16:72959676-72959676	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8359C>T; p.P2787S; 16:72794323-72794323	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5827A>G; p.N1943D; 16:72796855-72796855	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4788delT; p.F1596fs*20; 16:72797894-72797894	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5775T>A; p.G1925G; 16:72796907-72796907	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.6229G>T; p.A2077S; 16:72796453-72796453	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6546C>T; p.S2182S; 16:72796136-72796136	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4168C>T; p.Q1390*; 16:72798514-72798514	breast	carcinoma	Substitution - Nonsense
c.3424C>T; p.R1142C; 16:72889755-72889755	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.6169C>T; p.Q2057*; 16:72796513-72796513	prostate	carcinoma	Substitution - Nonsense
c.7421T>G; p.L2474R; 16:72795261-72795261	thyroid	carcinoma	Substitution - Missense
c.9193G>A; p.E3065K; 16:72793489-72793489	skin	malignant_melanoma	Substitution - Missense

Mutation summary in protein domains

Top

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

Top

Loss of Function mutations compare to missense mutations

Top

The copy number variations for various cancers

Top

COSMIC somatic mutation [Top]