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	80781
Symbol	COL18A1
Synonymous	KNO\|KNO1\|KS
Full name	collagen, type XVIII, alpha 1
Gene description	antiangiogenic agent\|collagen alpha-1(XVIII) chain\|endostatin\|multi-functional protein MFP
Cytoband	21q22.3
Gene type	protein-coding
Synonymous	MIM:120328; HGNC:HGNC:2195; Ensembl:ENSG00000182871; HPRD:00382; Vega:OTTHUMG00000090407

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.3321C>T; p.P1107P; 21:45504469-45504469	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.3772C>A; p.P1258T; 21:45507576-45507576	ovary	other; neoplasm	Substitution - Missense
c.2052G>C; p.E684D; 21:45480759-45480759	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2657C>T; p.P886L; 21:45491274-45491274	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1874G>T; p.R625I; 21:45480092-45480092	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1093A>C; p.R365R; 21:45468688-45468688	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2844C>T; p.I948I; 21:45493527-45493527	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.696G>A; p.P232P; 21:45468291-45468291	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.755C>A; p.P252Q; 21:45468350-45468350	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.337G>A; p.E113K; 21:45455867-45455867	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1008C>T; p.P336P; 21:45468603-45468603	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2416C>T; p.R806*; 21:45487489-45487489	breast	carcinoma	Substitution - Nonsense
c.3280G>T; p.D1094Y; 21:45504428-45504428	central_nervous_system; brain	glioma	Substitution - Missense
c.2075G>A; p.S692N; 21:45480782-45480782	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2416C>T; p.R806*; 21:45487489-45487489	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2451G>T; p.L817L; 21:45488432-45488432	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2169G>A; p.P723P; 21:45481980-45481980	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2416C>T; p.R806*; 21:45487489-45487489	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1978C>T; p.L660L; 21:45480506-45480506	skin	malignant_melanoma	Substitution - coding silent
c.1331A>G; p.E444G; 21:45475528-45475528	skin	malignant_melanoma	Substitution - Missense
c.2132C>T; p.P711L; 21:45480839-45480839	skin	malignant_melanoma	Substitution - Missense
c.2132C>T; p.P711L; 21:45480839-45480839	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.200G>A; p.R67Q; 21:45455730-45455730	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3088C>T; p.P1030S; 21:45496539-45496539	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3214G>A; p.G1072R; 21:45497652-45497652	breast	carcinoma	Substitution - Missense
c.180C>T; p.T60T; 21:45455710-45455710	pancreas	carcinoma	Substitution - coding silent
c.3214G>A; p.G1072R; 21:45497652-45497652	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2506G>T; p.V836F; 21:45490281-45490281	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2652delC; p.G887fs*17; 21:45491269-45491269	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1992+1G>A; p.?; 21:45480521-45480521	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.106G>A; p.E36K; 21:45455636-45455636	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3050G>A; p.G1017E; 21:45496501-45496501	skin	malignant_melanoma	Substitution - Missense
c.1413delG; p.E472fs*17; 21:45476425-45476425	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.2095G>A; p.A699T; 21:45480802-45480802	pancreas	carcinoma	Substitution - Missense
c.1815C>T; p.P605P; 21:45479928-45479928	liver	carcinoma	Substitution - coding silent
c.2095G>A; p.A699T; 21:45480802-45480802	pancreas	carcinoma	Substitution - Missense
c.716C>T; p.T239M; 21:45468311-45468311	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.335C>A; p.A112D; 21:45455865-45455865	large_intestine; rectum	NS	Substitution - Missense
c.2174G>A; p.R725K; 21:45481985-45481985	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1519C>T; p.R507W; 21:45477461-45477461	breast	carcinoma	Substitution - Missense
c.2140C>T; p.P714S; 21:45480847-45480847	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3060delC; p.P1022fs*67; 21:45496511-45496511	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1519C>T; p.R507W; 21:45477461-45477461	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.292G>A; p.E98K; 21:45455822-45455822	oesophagus	carcinoma	Substitution - Missense
c.16T>C; p.C6R; 21:45455546-45455546	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2364C>T; p.P788P; 21:45486983-45486983	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.2364C>T; p.P788P; 21:45486983-45486983	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.1122C>T; p.G374G; 21:45468717-45468717	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1188C>T; p.F396F; 21:45468783-45468783	skin	malignant_melanoma	Substitution - coding silent
c.4318G>A; p.D1440N; 21:45511195-45511195	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.3378C>A; p.P1126P; 21:45504526-45504526	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.269G>A; p.G90D; 21:45455799-45455799	skin	malignant_melanoma	Substitution - Missense
c.2627G>A; p.G876E; 21:45491244-45491244	skin	malignant_melanoma	Substitution - Missense
c.2526C>T; p.P842P; 21:45490301-45490301	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2227G>C; p.A743P; 21:45482807-45482807	skin	malignant_melanoma	Substitution - Missense
c.2718G>A; p.P906P; 21:45492555-45492555	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1844G>A; p.G615D; 21:45479957-45479957	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2475C>T; p.G825G; 21:45489497-45489497	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3448C>T; p.P1150S; 21:45505173-45505173	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3060C>T; p.G1020G; 21:45496511-45496511	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.804C>A; p.F268L; 21:45468399-45468399	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2141C>T; p.P714L; 21:45480848-45480848	skin	malignant_melanoma	Substitution - Missense
c.3069A>T; p.G1023G; 21:45496520-45496520	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3510A>C; p.P1170P; 21:45505235-45505235	breast	carcinoma	Substitution - coding silent
c.4204C>A; p.R1402S; 21:45510232-45510232	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3100C>A; p.P1034T; 21:45496551-45496551	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2611G>A; p.D871N; 21:45491228-45491228	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2859C>T; p.G953G; 21:45493542-45493542	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3354C>T; p.P1118P; 21:45504502-45504502	liver	carcinoma	Substitution - coding silent
c.2378A>G; p.D793G; 21:45487451-45487451	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2378A>G; p.D793G; 21:45487451-45487451	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3024T>C; p.D1008D; 21:45495408-45495408	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1938+1G>T; p.?; 21:45480157-45480157	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Unknown
c.3442G>A; p.G1148S; 21:45505167-45505167	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3785G>A; p.G1262E; 21:45507589-45507589	skin	malignant_melanoma	Substitution - Missense
c.2128delC; p.P714fs*190; 21:45480835-45480835	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.229C>T; p.P77S; 21:45455759-45455759	pancreas	carcinoma	Substitution - Missense
c.229C>T; p.P77S; 21:45455759-45455759	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.4163C>T; p.S1388L; 21:45510191-45510191	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2854G>A; p.D952N; 21:45493537-45493537	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1052G>A; p.G351D; 21:45468647-45468647	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.732C>T; p.V244V; 21:45468327-45468327	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4303C>T; p.R1435C; 21:45511180-45511180	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1008C>G; p.P336P; 21:45468603-45468603	skin	malignant_melanoma	Substitution - coding silent
c.3073C>T; p.P1025S; 21:45496524-45496524	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.19G>A; p.G7S; 21:45455549-45455549	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2083G>A; p.V695I; 21:45480790-45480790	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.842C>T; p.A281V; 21:45468437-45468437	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2968C>T; p.R990W; 21:45494910-45494910	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3061_3078del18; p.P1027_G1032delPPGPPG; 21:45496512-45496529	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Deletion - In frame
c.3206G>C; p.G1069A; 21:45497644-45497644	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.730G>A; p.V244I; 21:45468325-45468325	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1067T>C; p.L356P; 21:45468662-45468662	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.730G>A; p.V244I; 21:45468325-45468325	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.247C>G; p.P83A; 21:45455777-45455777	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.804C>G; p.F268L; 21:45468399-45468399	breast	carcinoma	Substitution - Missense
c.2599G>A; p.G867R; 21:45490863-45490863	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2454G>A; p.P818P; 21:45488435-45488435	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4098C>A; p.D1366E; 21:45510126-45510126	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1868_1869delGA; p.G626fs*24; 21:45480086-45480087	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3207delC; p.G1072fs*17; 21:45497645-45497645	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3514_3522delCCCCCAGGG; p.G1174_P1176delGPP; 21:45505239-45505247	large_intestine	carcinoma; adenocarcinoma	Deletion - In frame
c.3207delC; p.G1072fs*17; 21:45497645-45497645	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.745G>A; p.V249I; 21:45468340-45468340	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2742C>T; p.F914F; 21:45492701-45492701	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.3364_3372delGGCCCCCCA; p.P1127_P1129delPGP; 21:45504512-45504520	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1968C>T; p.F656F; 21:45480496-45480496	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.3364_3372delGGCCCCCCA; p.P1127_P1129delPGP; 21:45504512-45504520	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.782G>A; p.R261Q; 21:45468377-45468377	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3011G>T; p.G1004V; 21:45495395-45495395	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1053T>G; p.G351G; 21:45468648-45468648	thyroid	other; neoplasm	Substitution - coding silent
c.1249C>A; p.L417M; 21:45473952-45473952	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.885G>A; p.A295A; 21:45468480-45468480	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1131_1143del13; p.E378fs*18; 21:45468726-45468738	breast	carcinoma	Deletion - Frameshift
c.1343C>T; p.A448V; 21:45476355-45476355	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3928G>A; p.E1310K; 21:45509494-45509494	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.90G>C; p.W30C; 21:45455620-45455620	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4401C>T; p.T1467T; 21:45512239-45512239	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3539G>A; p.G1180D; 21:45505264-45505264	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1117delC; p.R373fs*27; 21:45468712-45468712	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2561C>T; p.A854V; 21:45490336-45490336	kidney	other; neoplasm	Substitution - Missense
c.199C>T; p.R67W; 21:45455729-45455729	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2712C>T; p.S904S; 21:45492549-45492549	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.2969G>A; p.R990Q; 21:45494911-45494911	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3066A>G; p.P1022P; 21:45496517-45496517	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2460T>C; p.L820L; 21:45488441-45488441	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1573_1574CC>TT; p.P525L; 21:45477777-45477778	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1938+10G>A; p.?; 21:45480166-45480166	pancreas	carcinoma	Unknown
c.2460T>C; p.L820L; 21:45488441-45488441	thyroid	other; neoplasm	Substitution - coding silent
c.1392C>T; p.P464P; 21:45476404-45476404	liver	carcinoma	Substitution - coding silent
c.3513delC; p.P1173fs*38; 21:45505238-45505238	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.225A>T; p.T75T; 21:45455755-45455755	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1392C>T; p.P464P; 21:45476404-45476404	liver	carcinoma	Substitution - coding silent
c.194C>T; p.T65I; 21:45455724-45455724	skin	malignant_melanoma	Substitution - Missense
c.1855G>A; p.D619N; 21:45480073-45480073	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.205G>A; p.G69S; 21:45455735-45455735	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4149C>T; p.R1383R; 21:45510177-45510177	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3937C>T; p.P1313S; 21:45509503-45509503	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2667G>A; p.P889P; 21:45491284-45491284	pancreas	carcinoma	Substitution - coding silent
c.3782G>A; p.R1261Q; 21:45507586-45507586	skin	malignant_melanoma	Substitution - Missense
c.3579_3580insCCCCCTGGG; p.G1202_T1203insPPG; 21:45505383-45505384	endometrium	carcinoma; endometrioid_carcinoma	Insertion - In frame
c.199C>G; p.R67G; 21:45455729-45455729	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.199C>G; p.R67G; 21:45455729-45455729	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2527G>T; p.G843W; 21:45490302-45490302	thyroid	other; neoplasm	Substitution - Missense
c.3259G>A; p.E1087K; 21:45504046-45504046	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3629T>G; p.V1210G; 21:45505839-45505839	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2929G>A; p.G977R; 21:45494871-45494871	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.639A>G; p.P213P; 21:45456169-45456169	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.4137G>A; p.A1379A; 21:45510165-45510165	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.588C>G; p.P196P; 21:45456118-45456118	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.590C>T; p.S197F; 21:45456120-45456120	skin	malignant_melanoma	Substitution - Missense
c.4137G>A; p.A1379A; 21:45510165-45510165	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1468G>A; p.A490T; 21:45476480-45476480	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2529G>T; p.G843G; 21:45490304-45490304	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4394G>A; p.R1465K; 21:45512232-45512232	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2631C>T; p.V877V; 21:45491248-45491248	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.4329C>T; p.D1443D; 21:45511206-45511206	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.726C>T; p.P242P; 21:45468321-45468321	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.726C>T; p.P242P; 21:45468321-45468321	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.3519A>C; p.P1173P; 21:45505244-45505244	pancreas	carcinoma	Substitution - coding silent
c.2932C>T; p.R978W; 21:45494874-45494874	pancreas	carcinoma	Substitution - Missense
c.3519A>C; p.P1173P; 21:45505244-45505244	pancreas	carcinoma	Substitution - coding silent
c.2932C>T; p.R978W; 21:45494874-45494874	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2148C>T; p.L716L; 21:45480855-45480855	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2425G>A; p.D809N; 21:45487498-45487498	oesophagus	carcinoma	Substitution - Missense
c.2698-9C>T; p.?; 21:45492526-45492526	stomach	adenocarcinoma	Unknown
c.3141C>T; p.P1047P; 21:45497073-45497073	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2320_2328delCCAGGCCCC; p.P783_P785delPGP; 21:45486939-45486947	liver	carcinoma	Deletion - In frame
c.2651_2652insC; p.G887fs*23; 21:45491268-45491269	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2476G>A; p.V826M; 21:45489498-45489498	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1378G>A; p.V460I; 21:45476390-45476390	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4275C>T; p.G1425G; 21:45511152-45511152	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2909G>A; p.R970Q; 21:45494561-45494561	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1161G>T; p.Q387H; 21:45468756-45468756	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2697C>T; p.D899D; 21:45491314-45491314	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2697C>T; p.D899D; 21:45491314-45491314	breast	carcinoma	Substitution - coding silent
c.1250T>C; p.L417P; 21:45473953-45473953	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2928C>T; p.Y976Y; 21:45494870-45494870	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4551C>G; p.A1517A; 21:45512389-45512389	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.867C>T; p.F289F; 21:45468462-45468462	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1761+10C>T; p.?; 21:45477975-45477975	oesophagus	carcinoma; adenocarcinoma	Unknown
c.1200C>T; p.I400I; 21:45473903-45473903	skin	malignant_melanoma	Substitution - coding silent
c.3081C>T; p.P1027P; 21:45496532-45496532	skin	malignant_melanoma	Substitution - coding silent
c.2626G>A; p.G876R; 21:45491243-45491243	pancreas	carcinoma	Substitution - Missense
c.2626G>A; p.G876R; 21:45491243-45491243	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1848C>A; p.D616E; 21:45479961-45479961	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.1848C>A; p.D616E; 21:45479961-45479961	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1848C>A; p.D616E; 21:45479961-45479961	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.1379T>C; p.V460A; 21:45476391-45476391	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4524C>G; p.L1508L; 21:45512362-45512362	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3474C>T; p.I1158I; 21:45505199-45505199	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2473G>T; p.G825C; 21:45489495-45489495	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1712C>T; p.P571L; 21:45477916-45477916	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1164G>A; p.A388A; 21:45468759-45468759	pancreas	carcinoma	Substitution - coding silent
c.4406G>A; p.S1469N; 21:45512244-45512244	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3522G>A; p.G1174G; 21:45505247-45505247	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.982C>T; p.H328Y; 21:45468577-45468577	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3856C>A; p.R1286R; 21:45509422-45509422	pancreas	carcinoma	Substitution - coding silent
c.2703C>T; p.S901S; 21:45492540-45492540	thyroid	other; neoplasm	Substitution - coding silent
c.1413G>T; p.T471T; 21:45476425-45476425	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2597G>A; p.R866Q; 21:45490861-45490861	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3544C>T; p.H1182Y; 21:45505269-45505269	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1159C>G; p.Q387E; 21:45468754-45468754	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.179C>T; p.T60I; 21:45455709-45455709	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.587C>T; p.P196L; 21:45456117-45456117	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2947G>A; p.G983R; 21:45494889-45494889	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.765C>A; p.N255K; 21:45468360-45468360	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.727G>A; p.D243N; 21:45468322-45468322	breast	carcinoma	Substitution - Missense
c.3206_3207insC; p.G1072fs*9; 21:45497644-45497645	liver	carcinoma	Insertion - Frameshift
c.3206_3207insC; p.G1072fs*9; 21:45497644-45497645	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3206_3207insC; p.G1072fs*9; 21:45497644-45497645	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1966T>C; p.F656L; 21:45480494-45480494	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1386G>T; p.T462T; 21:45476398-45476398	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2612A>T; p.D871V; 21:45491229-45491229	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.4050G>A; p.A1350A; 21:45510078-45510078	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2289C>T; p.G763G; 21:45486908-45486908	pancreas	carcinoma	Substitution - coding silent
c.3892G>A; p.A1298T; 21:45509458-45509458	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1460C>T; p.S487L; 21:45476472-45476472	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1878_1879insCCCCCAGGA; p.P630_Q631insPGP; 21:45480096-45480097	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Insertion - In frame
c.2730C>T; p.G910G; 21:45492689-45492689	skin	malignant_melanoma	Substitution - coding silent
c.39G>A; p.L13L; 21:45455569-45455569	breast	carcinoma	Substitution - coding silent
c.1283C>T; p.S428F; 21:45475480-45475480	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.789C>T; p.H263H; 21:45468384-45468384	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3115A>C; p.N1039H; 21:45496566-45496566	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3504delC; p.P1170fs*41; 21:45505229-45505229	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3330C>T; p.G1110G; 21:45504478-45504478	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2657C>G; p.P886R; 21:45491274-45491274	thyroid	other; neoplasm	Substitution - Missense
c.1164delG; p.G390fs*10; 21:45468759-45468759	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3702G>C; p.V1234V; 21:45505912-45505912	breast	carcinoma	Substitution - coding silent
c.4446G>A; p.T1482T; 21:45512284-45512284	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2794G>A; p.E932K; 21:45493202-45493202	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4446G>A; p.T1482T; 21:45512284-45512284	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2794G>A; p.E932K; 21:45493202-45493202	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4446G>A; p.T1482T; 21:45512284-45512284	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3953C>T; p.P1318L; 21:45509519-45509519	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3781C>T; p.R1261*; 21:45507585-45507585	ovary	other; neoplasm	Substitution - Nonsense
c.932G>A; p.G311E; 21:45468527-45468527	skin	malignant_melanoma	Substitution - Missense
c.1371A>G; p.P457P; 21:45476383-45476383	breast	carcinoma	Substitution - coding silent
c.1312G>A; p.A438T; 21:45475509-45475509	pancreas	carcinoma	Substitution - Missense
c.463G>A; p.A155T; 21:45455993-45455993	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2151G>A; p.P717P; 21:45480858-45480858	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3510_3511insGGCCCCCCC; p.P1176_S1177insGPP; 21:45505235-45505236	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - In frame
c.234C>T; p.G78G; 21:45455764-45455764	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1510G>T; p.G504W; 21:45477452-45477452	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2166T>A; p.P722P; 21:45481977-45481977	skin	malignant_melanoma	Substitution - coding silent
c.882G>T; p.S294S; 21:45468477-45468477	liver	carcinoma	Substitution - coding silent
c.882G>T; p.S294S; 21:45468477-45468477	liver	carcinoma	Substitution - coding silent
c.2753C>A; p.P918H; 21:45492712-45492712	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2186C>T; p.P729L; 21:45481997-45481997	skin	malignant_melanoma	Substitution - Missense
c.2186C>T; p.P729L; 21:45481997-45481997	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2392G>A; p.G798R; 21:45487465-45487465	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1450A>T; p.T484S; 21:45476462-45476462	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2704G>A; p.V902I; 21:45492541-45492541	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.792C>T; p.F264F; 21:45468387-45468387	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2533C>T; p.P845S; 21:45490308-45490308	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2533C>T; p.P845S; 21:45490308-45490308	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1367C>T; p.A456V; 21:45476379-45476379	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.786C>A; p.Y262*; 21:45468381-45468381	kidney	carcinoma; renal_cell_carcinoma	Substitution - Nonsense
c.1277G>A; p.G426E; 21:45473980-45473980	skin	malignant_melanoma	Substitution - Missense
c.4427C>T; p.T1476M; 21:45512265-45512265	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.306G>T; p.A102A; 21:45455836-45455836	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2120G>A; p.R707H; 21:45480827-45480827	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3137G>T; p.R1046L; 21:45497069-45497069	liver	carcinoma	Substitution - Missense
c.2532C>T; p.F844F; 21:45490307-45490307	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3137G>T; p.R1046L; 21:45497069-45497069	liver	carcinoma	Substitution - Missense
c.2420G>T; p.S807I; 21:45487493-45487493	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1404C>T; p.G468G; 21:45476416-45476416	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.78G>C; p.L26L; 21:45455608-45455608	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.4488G>C; p.Q1496H; 21:45512326-45512326	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4466T>G; p.L1489R; 21:45512304-45512304	liver	carcinoma	Substitution - Missense
c.2497A>G; p.K833E; 21:45489519-45489519	central_nervous_system; brain	glioma	Substitution - Missense
c.2216G>A; p.G739D; 21:45482796-45482796	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.602C>T; p.P201L; 21:45456132-45456132	skin	malignant_melanoma	Substitution - Missense
c.818C>A; p.S273*; 21:45468413-45468413	breast	carcinoma	Substitution - Nonsense
c.4496C>T; p.A1499V; 21:45512334-45512334	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4496C>T; p.A1499V; 21:45512334-45512334	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2478G>T; p.V826V; 21:45489500-45489500	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1967T>C; p.F656S; 21:45480495-45480495	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1014C>T; p.F338F; 21:45468609-45468609	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2899C>T; p.P967S; 21:45494551-45494551	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1217G>A; p.R406H; 21:45473920-45473920	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.147delG; p.L52fs*13; 21:45455677-45455677	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Deletion - Frameshift
c.4419G>A; p.T1473T; 21:45512257-45512257	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3522G>C; p.G1174G; 21:45505247-45505247	pancreas	carcinoma	Substitution - coding silent
c.2819G>A; p.G940D; 21:45493502-45493502	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2697+1G>A; p.?; 21:45491315-45491315	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.1523C>T; p.T508I; 21:45477465-45477465	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2415C>T; p.A805A; 21:45487488-45487488	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2417G>A; p.R806Q; 21:45487490-45487490	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3566C>T; p.P1189L; 21:45505370-45505370	pancreas	carcinoma	Substitution - Missense
c.349G>A; p.V117M; 21:45455879-45455879	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2091A>G; p.G697G; 21:45480798-45480798	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2967A>G; p.G989G; 21:45494909-45494909	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2521G>A; p.V841I; 21:45490296-45490296	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.349G>A; p.V117M; 21:45455879-45455879	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.3057C>A; p.P1019P; 21:45496508-45496508	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2128_2129insC; p.G712fs*29; 21:45480835-45480836	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.3835G>A; p.D1279N; 21:45509401-45509401	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4295C>T; p.P1432L; 21:45511172-45511172	skin	malignant_melanoma	Substitution - Missense
c.4147C>T; p.R1383C; 21:45510175-45510175	skin	malignant_melanoma	Substitution - Missense
c.140A>C; p.E47A; 21:45455670-45455670	pancreas	carcinoma	Substitution - Missense
c.615C>G; p.L205L; 21:45456145-45456145	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3207_3208insC; p.G1072fs*9; 21:45497645-45497646	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.2399C>T; p.P800L; 21:45487472-45487472	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3207_3208insC; p.G1072fs*9; 21:45497645-45497646	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.3728G>A; p.R1243H; 21:45505938-45505938	central_nervous_system; brain	glioma	Substitution - Missense
c.847G>T; p.E283*; 21:45468442-45468442	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3705C>T; p.A1235A; 21:45505915-45505915	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2643C>T; p.G881G; 21:45491260-45491260	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2643C>T; p.G881G; 21:45491260-45491260	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.291C>A; p.A97A; 21:45455821-45455821	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2202G>A; p.Q734Q; 21:45482013-45482013	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2983_2984GG>AA; p.G995K; 21:45495367-45495368	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3425G>A; p.S1142N; 21:45505150-45505150	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1989G>T; p.L663L; 21:45480517-45480517	liver	carcinoma	Substitution - coding silent
c.1989G>T; p.L663L; 21:45480517-45480517	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.2024C>T; p.P675L; 21:45480731-45480731	skin	malignant_melanoma	Substitution - Missense
c.3373_3381delGGCCCCCCA; p.P1127_P1129delPGP; 21:45504521-45504529	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.3373_3381delGGCCCCCCA; p.P1127_P1129delPGP; 21:45504521-45504529	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.3373_3381delGGCCCCCCA; p.P1127_P1129delPGP; 21:45504521-45504529	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.3373_3381delGGCCCCCCA; p.P1127_P1129delPGP; 21:45504521-45504529	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.3373_3381delGGCCCCCCA; p.P1127_P1129delPGP; 21:45504521-45504529	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.3373_3381delGGCCCCCCA; p.P1127_P1129delPGP; 21:45504521-45504529	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.3373_3381delGGCCCCCCA; p.P1127_P1129delPGP; 21:45504521-45504529	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.3373_3381delGGCCCCCCA; p.P1127_P1129delPGP; 21:45504521-45504529	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.3373_3381delGGCCCCCCA; p.P1127_P1129delPGP; 21:45504521-45504529	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.3373_3381delGGCCCCCCA; p.P1127_P1129delPGP; 21:45504521-45504529	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.3373_3381delGGCCCCCCA; p.P1127_P1129delPGP; 21:45504521-45504529	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.3373_3381delGGCCCCCCA; p.P1127_P1129delPGP; 21:45504521-45504529	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.3373_3381delGGCCCCCCA; p.P1127_P1129delPGP; 21:45504521-45504529	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.3373_3381delGGCCCCCCA; p.P1127_P1129delPGP; 21:45504521-45504529	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.3373_3381delGGCCCCCCA; p.P1127_P1129delPGP; 21:45504521-45504529	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.3373_3381delGGCCCCCCA; p.P1127_P1129delPGP; 21:45504521-45504529	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.3373_3381delGGCCCCCCA; p.P1127_P1129delPGP; 21:45504521-45504529	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.3373_3381delGGCCCCCCA; p.P1127_P1129delPGP; 21:45504521-45504529	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.3373_3381delGGCCCCCCA; p.P1127_P1129delPGP; 21:45504521-45504529	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.3373_3381delGGCCCCCCA; p.P1127_P1129delPGP; 21:45504521-45504529	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.3373_3381delGGCCCCCCA; p.P1127_P1129delPGP; 21:45504521-45504529	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.3373_3381delGGCCCCCCA; p.P1127_P1129delPGP; 21:45504521-45504529	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.2019C>T; p.P673P; 21:45480726-45480726	skin	malignant_melanoma	Substitution - coding silent
c.1284C>T; p.S428S; 21:45475481-45475481	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1760C>T; p.P587L; 21:45477964-45477964	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2974-8C>T; p.?; 21:45495350-45495350	ovary	other; neoplasm	Unknown
c.1764C>G; p.G588G; 21:45478329-45478329	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.3879G>A; p.A1293A; 21:45509445-45509445	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1752C>T; p.D584D; 21:45477956-45477956	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1777G>A; p.D593N; 21:45478342-45478342	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1831G>A; p.V611I; 21:45479944-45479944	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.3987G>A; p.A1329A; 21:45509553-45509553	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3190G>A; p.A1064T; 21:45497628-45497628	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3987G>A; p.A1329A; 21:45509553-45509553	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3987G>A; p.A1329A; 21:45509553-45509553	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1141G>A; p.A381T; 21:45468736-45468736	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.3987G>A; p.A1329A; 21:45509553-45509553	thyroid	other; neoplasm	Substitution - coding silent
c.1141G>A; p.A381T; 21:45468736-45468736	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3987G>A; p.A1329A; 21:45509553-45509553	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.324C>T; p.A108A; 21:45455854-45455854	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.3987G>A; p.A1329A; 21:45509553-45509553	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3987G>A; p.A1329A; 21:45509553-45509553	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3987G>A; p.A1329A; 21:45509553-45509553	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3016C>T; p.P1006S; 21:45495400-45495400	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1244A>T; p.H415L; 21:45473947-45473947	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1211A>C; p.K404T; 21:45473914-45473914	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4182C>A; p.Y1394*; 21:45510210-45510210	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.17G>A; p.C6Y; 21:45455547-45455547	breast	carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation