Entrez Gene

Basic Information
Gene ID	23405
Name	DICER1
Synonymous	dicer 1, ribonuclease type III;DICER1;dicer 1, ribonuclease type III
Definition	Dicer1, Dcr-1 homolog\|dicer 1, double-stranded RNA-specific endoribonuclease\|endoribonuclease Dicer\|helicase MOI\|helicase with RNAse motif
Position	14q32.13
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 0.09.

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.4811_4820del10; p.C1604fs*13; 14:95096100-95096109	autonomic_ganglia	neuroblastoma	Deletion - Frameshift
c.26T>A; p.L9H; 14:95133433-95133433	liver	carcinoma	Substitution - Missense
c.26T>A; p.L9H; 14:95133433-95133433	liver	carcinoma	Substitution - Missense
c.5397_5399delAGA; p.E1799del; 14:95091331-95091333	prostate	carcinoma; adenocarcinoma	Deletion - In frame
c.3107A>C; p.E1036A; 14:95105233-95105233	liver	carcinoma	Substitution - Missense
c.3107A>C; p.E1036A; 14:95105233-95105233	liver	carcinoma	Substitution - Missense
c.1026G>C; p.R342S; 14:95124546-95124546	skin	malignant_melanoma	Substitution - Missense
c.54C>A; p.T18T; 14:95133405-95133405	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1510-5_1510-4delTT; p.?; 14:95116699-95116700	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.4511G>A; p.S1504N; 14:95096409-95096409	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5295C>T; p.L1765L; 14:95093957-95093957	NS	malignant_melanoma	Substitution - coding silent
c.5295C>T; p.L1765L; 14:95093957-95093957	NS	malignant_melanoma	Substitution - coding silent
c.1276G>T; p.E426*; 14:95124296-95124296	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.5126A>G; p.D1709G; 14:95094126-95094126	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.1778C>T; p.S593L; 14:95115796-95115796	breast	carcinoma	Substitution - Missense
c.5126A>G; p.D1709G; 14:95094126-95094126	ovary	sex_cord-stromal_tumour; granulosa_cell_tumour	Substitution - Missense
c.5666A>C; p.K1889T; 14:95090601-95090601	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2326G>T; p.V776F; 14:95108434-95108434	breast	carcinoma	Substitution - Missense
c.5437G>A; p.E1813K; 14:95091293-95091293	ovary	carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour	Substitution - Missense
c.4018G>A; p.E1340K; 14:95103378-95103378	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.5437G>A; p.E1813K; 14:95091293-95091293	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5437G>A; p.E1813K; 14:95091293-95091293	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.111T>A; p.I37I; 14:95133348-95133348	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.5437G>A; p.E1813K; 14:95091293-95091293	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5437G>A; p.E1813K; 14:95091293-95091293	pituitary	other; blastoma	Substitution - Missense
c.5437G>A; p.E1813K; 14:95091293-95091293	upper_aerodigestive_tract; sinonasal_and_nasal_cavity	other; chondromesenchymal_hamartoma	Substitution - Missense
c.2675T>A; p.I892N; 14:95107737-95107737	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5437G>A; p.E1813K; 14:95091293-95091293	kidney	other; cystic_nephroma	Substitution - Missense
c.4018G>A; p.E1340K; 14:95103378-95103378	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5437G>A; p.E1813K; 14:95091293-95091293	pituitary	other; blastoma	Substitution - Missense
c.442C>G; p.L148V; 14:95130189-95130189	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.734G>A; p.R245K; 14:95129472-95129472	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.925G>T; p.V309L; 14:95124647-95124647	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5517G>T; p.R1839R; 14:95091213-95091213	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2021C>T; p.P674L; 14:95113111-95113111	skin	malignant_melanoma	Substitution - Missense
c.1440T>C; p.T480T; 14:95117691-95117691	skin	malignant_melanoma	Substitution - coding silent
c.3389A>G; p.E1130G; 14:95104007-95104007	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3160C>T; p.L1054F; 14:95105180-95105180	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3279C>G; p.N1093K; 14:95104117-95104117	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3749C>A; p.S1250Y; 14:95103647-95103647	pancreas	carcinoma	Substitution - Missense
c.4081A>C; p.K1361Q; 14:95099905-95099905	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4849C>A; p.L1617I; 14:95096071-95096071	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4669A>G; p.K1557E; 14:95096251-95096251	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1570G>T; p.E524*; 14:95116635-95116635	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2062C>T; p.R688*; 14:95112226-95112226	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2062C>T; p.R688*; 14:95112226-95112226	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4797G>T; p.R1599R; 14:95096123-95096123	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4068G>T; p.L1356L; 14:95099918-95099918	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.5426G>T; p.G1809V; 14:95091304-95091304	kidney	Wilms_tumour	Substitution - Missense
c.4206+9_4206+19delGTGTGTGTGTG; p.?; 14:95099761-95099771	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.134G>A; p.R45K; 14:95133325-95133325	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4651G>A; p.E1551K; 14:95096269-95096269	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.5475G>A; p.M1825I; 14:95091255-95091255	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.2249C>T; p.P750L; 14:95111324-95111324	skin	malignant_melanoma	Substitution - Missense
c.5718A>C; p.R1906S; 14:95090549-95090549	thyroid	carcinoma	Substitution - Missense
c.1886C>T; p.T629M; 14:95115688-95115688	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4411C>G; p.P1471A; 14:95096509-95096509	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2039T>C; p.V680A; 14:95113093-95113093	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3810G>A; p.V1270V; 14:95103586-95103586	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.5581G>A; p.E1861K; 14:95091056-95091056	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.5581G>A; p.E1861K; 14:95091056-95091056	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4774C>T; p.P1592S; 14:95096146-95096146	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1616delT; p.L539fs*23; 14:95116589-95116589	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.5429A>C; p.D1810A; 14:95091301-95091301	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.101A>C; p.Q34P; 14:95133358-95133358	liver	carcinoma	Substitution - Missense
c.4458delA; p.K1486fs*4; 14:95096462-95096462	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.977T>C; p.V326A; 14:95124595-95124595	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2964G>T; p.L988L; 14:95106064-95106064	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.4281G>C; p.L1427L; 14:95096639-95096639	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.602G>A; p.R201H; 14:95129604-95129604	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.5407G>A; p.E1803K; 14:95091323-95091323	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1982G>A; p.G661D; 14:95113150-95113150	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3901T>A; p.L1301M; 14:95103495-95103495	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2094C>T; p.C698C; 14:95112194-95112194	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.5741C>T; p.A1914V; 14:95090526-95090526	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1174_1175ins10; p.R392fs*3; 14:95124397-95124398	pleura	pulmonary_blastoma	Insertion - Frameshift
c.5127T>A; p.D1709E; 14:95094125-95094125	ovary	germ_cell_tumour; yolk_sac_tumour	Substitution - Missense
c.2796C>T; p.I932I; 14:95107616-95107616	skin	malignant_melanoma	Substitution - coding silent
c.5127T>A; p.D1709E; 14:95094125-95094125	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.1752G>A; p.K584K; 14:95116453-95116453	skin	malignant_melanoma	Substitution - coding silent
c.1938T>C; p.F646F; 14:95113194-95113194	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.396T>C; p.S132S; 14:95131551-95131551	breast	carcinoma	Substitution - coding silent
c.4795C>T; p.R1599W; 14:95096125-95096125	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5127T>A; p.D1709E; 14:95094125-95094125	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.1606C>T; p.R536C; 14:95116599-95116599	NS	malignant_melanoma	Substitution - Missense
c.5495A>G; p.Q1832R; 14:95091235-95091235	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1858G>T; p.D620Y; 14:95115716-95115716	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4698G>C; p.L1566L; 14:95096222-95096222	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1994C>T; p.S665L; 14:95113138-95113138	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5283C>T; p.V1761V; 14:95093969-95093969	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4151G>T; p.G1384V; 14:95099835-95099835	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.824A>C; p.E275A; 14:95126659-95126659	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4014G>A; p.A1338A; 14:95103382-95103382	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5425G>A; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.1153C>T; p.R385C; 14:95124419-95124419	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.5425G>A; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.5425G>A; p.G1809R; 14:95091305-95091305	kidney	other; cystic_nephroma	Substitution - Missense
c.3280_3281delTT; p.L1094fs*9; 14:95104115-95104116	central_nervous_system; pineal_gland	primitive_neuroectodermal_tumour-medulloblastoma; pineoblastoma	Deletion - Frameshift
c.1402G>A; p.D468N; 14:95117729-95117729	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5425G>A; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.2019A>C; p.S673S; 14:95113113-95113113	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.5425G>A; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.5425G>A; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.5425G>A; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.389A>G; p.N130S; 14:95131558-95131558	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.5425G>A; p.G1809R; 14:95091305-95091305	kidney	other; cystic_nephroma	Substitution - Missense
c.5425G>A; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.5425G>A; p.G1809R; 14:95091305-95091305	kidney	Wilms_tumour	Substitution - Missense
c.5425G>A; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.2948T>C; p.L983P; 14:95106080-95106080	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5425G>A; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.1153C>T; p.R385C; 14:95124419-95124419	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5425G>A; p.G1809R; 14:95091305-95091305	lung	carcinoid-endocrine_tumour; atypical	Substitution - Missense
c.5425G>A; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.5425G>A; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.1510-4delT; p.?; 14:95116699-95116699	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.925G>A; p.V309I; 14:95124647-95124647	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4275G>T; p.E1425D; 14:95096645-95096645	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1506A>G; p.E502E; 14:95117625-95117625	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1506A>G; p.E502E; 14:95117625-95117625	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1506A>G; p.E502E; 14:95117625-95117625	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.144+10C>T; p.?; 14:95133305-95133305	liver	carcinoma	Unknown
c.144+10C>T; p.?; 14:95133305-95133305	liver	carcinoma	Unknown
c.5221A>G; p.N1741D; 14:95094031-95094031	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.4514C>T; p.S1505F; 14:95096406-95096406	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1304C>T; p.P435L; 14:95124268-95124268	kidney	Wilms_tumour	Substitution - Missense
c.5221A>G; p.N1741D; 14:95094031-95094031	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3202G>A; p.E1068K; 14:95105138-95105138	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3084G>A; p.Q1028Q; 14:95105687-95105687	breast	carcinoma	Substitution - coding silent
c.1635C>A; p.S545S; 14:95116570-95116570	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5677G>T; p.V1893F; 14:95090590-95090590	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2369G>A; p.R790Q; 14:95108391-95108391	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2369G>A; p.R790Q; 14:95108391-95108391	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2942C>A; p.T981N; 14:95106086-95106086	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5705C>T; p.S1902F; 14:95090562-95090562	skin	malignant_melanoma	Substitution - Missense
c.3179G>A; p.R1060H; 14:95105161-95105161	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4289G>T; p.R1430M; 14:95096631-95096631	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.250C>G; p.Q84E; 14:95132572-95132572	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.250C>G; p.Q84E; 14:95132572-95132572	pancreas	NS	Substitution - Missense
c.1523T>G; p.F508C; 14:95116682-95116682	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.652G>T; p.E218*; 14:95129554-95129554	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1442G>T; p.G481V; 14:95117689-95117689	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5465A>G; p.D1822G; 14:95091265-95091265	kidney	Wilms_tumour	Substitution - Missense
c.2284C>T; p.P762S; 14:95108476-95108476	skin	malignant_melanoma	Substitution - Missense
c.1635C>T; p.S545S; 14:95116570-95116570	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5174G>A; p.R1725Q; 14:95094078-95094078	testis	germ_cell_tumour; seminoma	Substitution - Missense
c.366G>A; p.G122G; 14:95131581-95131581	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5438A>C; p.E1813A; 14:95091292-95091292	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5438A>C; p.E1813A; 14:95091292-95091292	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.3776C>T; p.A1259V; 14:95103620-95103620	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.366G>A; p.G122G; 14:95131581-95131581	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5130G>A; p.A1710A; 14:95094122-95094122	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4879G>A; p.A1627T; 14:95096041-95096041	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2111A>C; p.K704T; 14:95112177-95112177	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.559C>T; p.R187*; 14:95130072-95130072	skin	malignant_melanoma	Substitution - Nonsense
c.2612A>G; p.D871G; 14:95107918-95107918	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.5550C>A; p.P1850P; 14:95091087-95091087	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.417_418CC>TT; p.Q140*; 14:95131529-95131530	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1303C>T; p.P435S; 14:95124269-95124269	skin	malignant_melanoma	Substitution - Missense
c.3257C>A; p.P1086H; 14:95105083-95105083	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5439G>C; p.E1813D; 14:95091291-95091291	pleura	pulmonary_blastoma	Substitution - Missense
c.5439G>C; p.E1813D; 14:95091291-95091291	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5439G>C; p.E1813D; 14:95091291-95091291	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5439G>C; p.E1813D; 14:95091291-95091291	pleura	pulmonary_blastoma	Substitution - Missense
c.5439G>C; p.E1813D; 14:95091291-95091291	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.2805-2A>T; p.?; 14:95106225-95106225	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.666G>T; p.K222N; 14:95129540-95129540	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2562C>A; p.F854L; 14:95107968-95107968	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4271A>G; p.E1424G; 14:95096649-95096649	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5428G>A; p.D1810N; 14:95091302-95091302	kidney	Wilms_tumour	Substitution - Missense
c.5428G>A; p.D1810N; 14:95091302-95091302	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.1490A>C; p.E497A; 14:95117641-95117641	breast	carcinoma	Substitution - Missense
c.5428G>A; p.D1810N; 14:95091302-95091302	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3187T>G; p.C1063G; 14:95105153-95105153	skin	malignant_melanoma	Substitution - Missense
c.1671C>G; p.I557M; 14:95116534-95116534	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2801C>A; p.P934Q; 14:95107611-95107611	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1553C>T; p.A518V; 14:95116652-95116652	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4956T>C; p.H1652H; 14:95095964-95095964	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2761G>T; p.V921F; 14:95107651-95107651	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.948G>A; p.W316*; 14:95124624-95124624	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4679C>T; p.A1560V; 14:95096241-95096241	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2162_2163delAA; p.K721fs*2; 14:95111410-95111411	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5113G>C; p.E1705Q; 14:95094139-95094139	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5113G>C; p.E1705Q; 14:95094139-95094139	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.864A>G; p.V288V; 14:95126619-95126619	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4820G>A; p.R1607Q; 14:95096100-95096100	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4820G>A; p.R1607Q; 14:95096100-95096100	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5272T>G; p.F1758V; 14:95093980-95093980	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3442C>G; p.Q1148E; 14:95103954-95103954	urinary_tract; bladder	carcinoma	Substitution - Missense
c.114T>C; p.H38H; 14:95133345-95133345	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2229G>A; p.T743T; 14:95111344-95111344	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2229G>A; p.T743T; 14:95111344-95111344	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2222G>T; p.G741V; 14:95111351-95111351	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2978C>T; p.T993I; 14:95106050-95106050	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2229G>A; p.T743T; 14:95111344-95111344	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5724C>A; p.A1908A; 14:95090543-95090543	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1505A>G; p.E502G; 14:95117626-95117626	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1360G>A; p.A454T; 14:95124212-95124212	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.3691C>T; p.P1231S; 14:95103705-95103705	skin	malignant_melanoma	Substitution - Missense
c.1504G>A; p.E502K; 14:95117627-95117627	skin	malignant_melanoma	Substitution - Missense
c.5438A>T; p.E1813V; 14:95091292-95091292	pituitary	other; blastoma	Substitution - Missense
c.2416A>G; p.T806A; 14:95108344-95108344	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5438A>T; p.E1813V; 14:95091292-95091292	pituitary	other; blastoma	Substitution - Missense
c.5263C>A; p.H1755N; 14:95093989-95093989	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5225A>G; p.N1742S; 14:95094027-95094027	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3457T>C; p.C1153R; 14:95103939-95103939	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1614T>C; p.D538D; 14:95116591-95116591	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2613C>T; p.D871D; 14:95107917-95107917	pancreas	carcinoma	Substitution - coding silent
c.2830C>T; p.R944*; 14:95106198-95106198	skin	malignant_melanoma	Substitution - Nonsense
c.1755C>A; p.I585I; 14:95115819-95115819	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2922A>G; p.T974T; 14:95106106-95106106	prostate	carcinoma	Substitution - coding silent
c.4128C>A; p.P1376P; 14:95099858-95099858	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3259G>C; p.A1087P; 14:95105081-95105081	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2804G>A; p.R935K; 14:95107608-95107608	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4775C>T; p.P1592L; 14:95096145-95096145	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3583G>A; p.D1195N; 14:95103813-95103813	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4420A>G; p.T1474A; 14:95096500-95096500	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1936T>C; p.F646L; 14:95113196-95113196	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5492G>A; p.W1831*; 14:95091238-95091238	ovary	germ_cell_tumour; yolk_sac_tumour	Substitution - Nonsense
c.5428G>C; p.D1810H; 14:95091302-95091302	kidney	other; cystic_nephroma	Substitution - Missense
c.5428G>C; p.D1810H; 14:95091302-95091302	thyroid	carcinoma	Substitution - Missense
c.3178C>T; p.R1060C; 14:95105162-95105162	skin	malignant_melanoma	Substitution - Missense
c.5428G>C; p.D1810H; 14:95091302-95091302	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5428_5429GA>AG; p.D1810S; 14:95091301-95091302	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Substitution - Missense
c.1469G>A; p.R490H; 14:95117662-95117662	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1469G>A; p.R490H; 14:95117662-95117662	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3895C>T; p.Q1299*; 14:95103501-95103501	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.4326C>A; p.F1442L; 14:95096594-95096594	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2210C>T; p.P737L; 14:95111363-95111363	skin	malignant_melanoma	Substitution - Missense
c.5742T>C; p.A1914A; 14:95090525-95090525	pancreas	carcinoma	Substitution - coding silent
c.4529G>A; p.C1510Y; 14:95096391-95096391	breast	carcinoma	Substitution - Missense
c.1637A>G; p.Y546C; 14:95116568-95116568	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.816G>A; p.M272I; 14:95126667-95126667	skin	malignant_melanoma	Substitution - Missense
c.1908-2A>T; p.?; 14:95113226-95113226	urinary_tract; bladder	carcinoma	Unknown
c.5742T>C; p.A1914A; 14:95090525-95090525	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.5439G>T; p.E1813D; 14:95091291-95091291	upper_aerodigestive_tract; sinonasal_and_nasal_cavity	other; chondromesenchymal_hamartoma	Substitution - Missense
c.5439G>T; p.E1813D; 14:95091291-95091291	upper_aerodigestive_tract; sinonasal_and_nasal_cavity	other; chondromesenchymal_hamartoma	Substitution - Missense
c.5552G>A; p.R1851H; 14:95091085-95091085	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5439G>T; p.E1813D; 14:95091291-95091291	pituitary	other; blastoma	Substitution - Missense
c.5439G>T; p.E1813D; 14:95091291-95091291	kidney	other; cystic_nephroma	Substitution - Missense
c.5439G>T; p.E1813D; 14:95091291-95091291	kidney	other; cystic_nephroma	Substitution - Missense
c.5439G>T; p.E1813D; 14:95091291-95091291	kidney	other; cystic_nephroma	Substitution - Missense
c.5439G>T; p.E1813D; 14:95091291-95091291	upper_aerodigestive_tract; sinonasal_and_nasal_cavity	other; chondromesenchymal_hamartoma	Substitution - Missense
c.5439G>T; p.E1813D; 14:95091291-95091291	thyroid	carcinoma; papillary_carcinoma	Substitution - Missense
c.3008G>A; p.R1003Q; 14:95105763-95105763	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5439G>T; p.E1813D; 14:95091291-95091291	kidney	other; cystic_nephroma	Substitution - Missense
c.5439G>T; p.E1813D; 14:95091291-95091291	kidney	other; cystic_nephroma	Substitution - Missense
c.5442G>A; p.S1814S; 14:95091288-95091288	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1749A>T; p.E583D; 14:95116456-95116456	pancreas	carcinoma	Substitution - Missense
c.5428G>T; p.D1810Y; 14:95091302-95091302	pleura	pulmonary_blastoma	Substitution - Missense
c.5428G>T; p.D1810Y; 14:95091302-95091302	pleura	pulmonary_blastoma	Substitution - Missense
c.5428G>T; p.D1810Y; 14:95091302-95091302	ovary	germ_cell_tumour; teratoma	Substitution - Missense
c.5428G>T; p.D1810Y; 14:95091302-95091302	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.5428G>T; p.D1810Y; 14:95091302-95091302	pleura	pulmonary_blastoma	Substitution - Missense
c.5428G>T; p.D1810Y; 14:95091302-95091302	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5428G>T; p.D1810Y; 14:95091302-95091302	pleura	pulmonary_blastoma	Substitution - Missense
c.5428G>T; p.D1810Y; 14:95091302-95091302	pleura	pulmonary_blastoma	Substitution - Missense
c.5428G>T; p.D1810Y; 14:95091302-95091302	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.2439T>C; p.I813I; 14:95108091-95108091	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5428G>T; p.D1810Y; 14:95091302-95091302	pleura	pulmonary_blastoma	Substitution - Missense
c.5428G>T; p.D1810Y; 14:95091302-95091302	ovary	germ_cell_tumour; mixed	Substitution - Missense
c.3094A>G; p.I1032V; 14:95105246-95105246	liver	carcinoma	Substitution - Missense
c.1679A>G; p.Y560C; 14:95116526-95116526	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.255C>G; p.I85M; 14:95132567-95132567	kidney	Wilms_tumour	Substitution - Missense
c.3094A>G; p.I1032V; 14:95105246-95105246	liver	carcinoma	Substitution - Missense
c.5125G>T; p.D1709Y; 14:95094127-95094127	pituitary	other; blastoma	Substitution - Missense
c.5240C>T; p.S1747L; 14:95094012-95094012	breast	carcinoma	Substitution - Missense
c.5240C>T; p.S1747L; 14:95094012-95094012	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.4792G>A; p.D1598N; 14:95096128-95096128	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5365-1G>T; p.?; 14:95091366-95091366	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Unknown
c.4130delC; p.P1377fs*2; 14:95099856-95099856	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5386G>A; p.E1796K; 14:95091344-95091344	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2341T>A; p.L781I; 14:95108419-95108419	liver	carcinoma	Substitution - Missense
c.1132A>T; p.I378F; 14:95124440-95124440	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3238G>A; p.V1080M; 14:95105102-95105102	pancreas	carcinoma	Substitution - Missense
c.3328A>G; p.I1110V; 14:95104068-95104068	kidney	Wilms_tumour	Substitution - Missense
c.743C>G; p.S248C; 14:95126740-95126740	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2341T>A; p.L781I; 14:95108419-95108419	liver	carcinoma	Substitution - Missense
c.1483G>A; p.E495K; 14:95117648-95117648	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1483G>A; p.E495K; 14:95117648-95117648	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1483G>A; p.E495K; 14:95117648-95117648	large_intestine; colon	carcinoma	Substitution - Missense
c.1483G>A; p.E495K; 14:95117648-95117648	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	thyroid	carcinoma; papillary_carcinoma	Substitution - Missense
c.1144G>A; p.E382K; 14:95124428-95124428	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	kidney	Wilms_tumour	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	kidney	other; cystic_nephroma	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	pleura	pulmonary_blastoma	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	pleura	pulmonary_blastoma	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	testis	germ_cell_tumour; mixed	Substitution - Missense
c.1144G>A; p.E382K; 14:95124428-95124428	liver	carcinoma	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	pleura	pulmonary_blastoma	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	pleura	pulmonary_blastoma	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	pleura	pulmonary_blastoma	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	pleura	pulmonary_blastoma	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	testis	germ_cell_tumour; yolk_sac_tumour	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	thyroid	carcinoma	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	pleura	pulmonary_blastoma	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	ovary	germ_cell_tumour; mixed	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	kidney	other; cystic_nephroma	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	kidney	other; cystic_nephroma	Substitution - Missense
c.4603_4604delTG; p.C1535fs*3; 14:95096316-95096317	ovary	carcinoma	Deletion - Frameshift
c.5218G>A; p.V1740I; 14:95094034-95094034	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3991C>G; p.L1331V; 14:95103405-95103405	eye; uveal_tract	malignant_melanoma; spindle	Substitution - Missense
c.2084C>T; p.A695V; 14:95112204-95112204	breast	carcinoma	Substitution - Missense
c.3245T>G; p.V1082G; 14:95105095-95105095	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.5052C>T; p.L1684L; 14:95095868-95095868	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.5551C>T; p.R1851C; 14:95091086-95091086	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5401G>A; p.D1801N; 14:95091329-95091329	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4296G>A; p.P1432P; 14:95096624-95096624	skin; upper_arm	malignant_melanoma	Substitution - coding silent
c.897G>A; p.S299S; 14:95126586-95126586	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5476T>C; p.S1826P; 14:95091254-95091254	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5186C>T; p.P1729L; 14:95094066-95094066	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4665T>C; p.A1555A; 14:95096255-95096255	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.897G>A; p.S299S; 14:95126586-95126586	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2031C>A; p.A677A; 14:95113101-95113101	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1920A>G; p.R640R; 14:95113212-95113212	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3440A>G; p.D1147G; 14:95103956-95103956	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.5001A>C; p.E1667D; 14:95095919-95095919	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5001A>C; p.E1667D; 14:95095919-95095919	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4072C>T; p.R1358C; 14:95099914-95099914	oesophagus	carcinoma	Substitution - Missense
c.3839G>A; p.S1280N; 14:95103557-95103557	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3261G>A; p.A1087A; 14:95105079-95105079	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2732G>T; p.S911I; 14:95107680-95107680	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.390T>A; p.N130K; 14:95131557-95131557	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.68C>A; p.P23Q; 14:95133391-95133391	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.835A>T; p.N279Y; 14:95126648-95126648	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.1792G>A; p.E598K; 14:95115782-95115782	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4949T>G; p.F1650C; 14:95095971-95095971	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.862G>A; p.V288I; 14:95126621-95126621	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5452G>A; p.A1818T; 14:95091278-95091278	kidney	Wilms_tumour	Substitution - Missense
c.142C>G; p.Q48E; 14:95133317-95133317	kidney	Wilms_tumour	Substitution - Missense
c.5425G>C; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.3675C>G; p.Y1225*; 14:95103721-95103721	central_nervous_system; pineal_gland	primitive_neuroectodermal_tumour-medulloblastoma; pineoblastoma	Substitution - Nonsense
c.5425G>C; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.5425G>C; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.5425G>C; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.5425G>C; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.5425G>C; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.5425G>C; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.5425G>C; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.5425G>C; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.982G>T; p.E328*; 14:95124590-95124590	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5425G>C; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.5425G>C; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.5425G>C; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.2052G>C; p.M684I; 14:95112236-95112236	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5425G>C; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.5425G>C; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.5425G>C; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.2417C>T; p.T806M; 14:95108343-95108343	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.5528-1G>C; p.?; 14:95091110-95091110	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Unknown
c.5173C>T; p.R1725W; 14:95094079-95094079	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3704G>A; p.C1235Y; 14:95103692-95103692	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - Missense
c.4073G>A; p.R1358H; 14:95099913-95099913	large_intestine; rectum	NS	Substitution - Missense
c.5429A>T; p.D1810V; 14:95091301-95091301	ovary	sex_cord-stromal_tumour	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	pleura	pulmonary_blastoma	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	pleura	pulmonary_blastoma	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	ovary	sex_cord-stromal_tumour	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	pleura	pulmonary_blastoma	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	pleura	pulmonary_blastoma	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	pleura	pulmonary_blastoma	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	kidney	other; cystic_nephroma	Substitution - Missense
c.3607A>T; p.N1203Y; 14:95103789-95103789	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.3821G>T; p.R1274M; 14:95103575-95103575	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	pleura	pulmonary_blastoma	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	pleura	pulmonary_blastoma	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	pleura	pulmonary_blastoma	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	kidney	other; cystic_nephroma	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	kidney	other; cystic_nephroma	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	thyroid	carcinoma; papillary_carcinoma	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1216C>T; p.Q406*; 14:95124356-95124356	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5668T>A; p.F1890I; 14:95090599-95090599	liver	carcinoma	Substitution - Missense
c.5668T>A; p.F1890I; 14:95090599-95090599	liver	carcinoma	Substitution - Missense
c.4656G>T; p.Q1552H; 14:95096264-95096264	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3941G>A; p.R1314Q; 14:95103455-95103455	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1334T>G; p.I445S; 14:95124238-95124238	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.184G>A; p.V62I; 14:95132638-95132638	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1525C>T; p.R509*; 14:95116680-95116680	skin	malignant_melanoma	Substitution - Nonsense
c.877A>G; p.R293G; 14:95126606-95126606	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.172C>T; p.H58Y; 14:95132650-95132650	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.288G>A; p.T96T; 14:95132534-95132534	endometrium	carcinoma; serous_carcinoma	Substitution - coding silent
c.3425C>T; p.S1142F; 14:95103971-95103971	skin	malignant_melanoma	Substitution - Missense
c.4446A>C; p.K1482N; 14:95096474-95096474	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2823G>A; p.Q941Q; 14:95106205-95106205	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.132A>G; p.P44P; 14:95133327-95133327	pancreas	carcinoma	Substitution - coding silent
c.1211G>T; p.R404I; 14:95124361-95124361	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2191G>T; p.E731*; 14:95111382-95111382	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2191G>T; p.E731*; 14:95111382-95111382	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.3237C>T; p.G1079G; 14:95105103-95105103	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.94T>C; p.W32R; 14:95133365-95133365	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5425G>T; p.G1809W; 14:95091305-95091305	pituitary	other; blastoma	Substitution - Missense
c.5232C>A; p.I1744I; 14:95094020-95094020	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5365_5527del163; p.L1789fs*42; 14:95091203-95091365	kidney	Wilms_tumour	Deletion - Frameshift
c.1772C>G; p.S591C; 14:95115802-95115802	breast	carcinoma	Substitution - Missense
c.1093C>A; p.P365T; 14:95124479-95124479	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.5365_5527del163; p.L1789fs*42; 14:95091203-95091365	ovary	germ_cell_tumour; dysgerminoma	Deletion - Frameshift
c.3555C>T; p.A1185A; 14:95103841-95103841	skin	malignant_melanoma	Substitution - coding silent
c.5365_5527del163; p.L1789fs*42; 14:95091203-95091365	ovary	germ_cell_tumour; dysgerminoma	Deletion - Frameshift
c.5138A>C; p.D1713A; 14:95094114-95094114	kidney	Wilms_tumour	Substitution - Missense
c.911C>T; p.S304L; 14:95124661-95124661	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3972G>A; p.K1324K; 14:95103424-95103424	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2130C>T; p.D710D; 14:95111443-95111443	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3972G>A; p.K1324K; 14:95103424-95103424	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3704G>T; p.C1235F; 14:95103692-95103692	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2831G>A; p.R944Q; 14:95106197-95106197	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4024C>T; p.R1342C; 14:95103372-95103372	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2831G>A; p.R944Q; 14:95106197-95106197	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3116C>T; p.A1039V; 14:95105224-95105224	liver	carcinoma	Substitution - Missense
c.283A>G; p.R95G; 14:95132539-95132539	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5728C>T; p.R1910*; 14:95090539-95090539	liver	carcinoma	Substitution - Nonsense
c.5728C>T; p.R1910*; 14:95090539-95090539	liver	carcinoma	Substitution - Nonsense
c.5728C>T; p.R1910*; 14:95090539-95090539	skin	malignant_melanoma	Substitution - Nonsense
c.5510T>C; p.M1837T; 14:95091220-95091220	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5608G>T; p.A1870S; 14:95090659-95090659	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5114A>C; p.E1705A; 14:95094138-95094138	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4031C>T; p.S1344L; 14:95103365-95103365	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.924C>T; p.A308A; 14:95124648-95124648	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3296A>C; p.K1099T; 14:95104100-95104100	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2033C>T; p.S678F; 14:95113099-95113099	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4031C>T; p.S1344L; 14:95103365-95103365	kidney	Wilms_tumour	Substitution - Missense
c.4031C>T; p.S1344L; 14:95103365-95103365	skin	malignant_melanoma	Substitution - Missense
c.4031C>T; p.S1344L; 14:95103365-95103365	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4031C>T; p.S1344L; 14:95103365-95103365	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2879T>G; p.F960C; 14:95106149-95106149	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.745C>T; p.Q249*; 14:95126738-95126738	skin	malignant_melanoma	Substitution - Nonsense
c.2596G>A; p.E866K; 14:95107934-95107934	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4649C>T; p.T1550I; 14:95096271-95096271	skin	malignant_melanoma	Substitution - Missense
c.2614G>A; p.A872T; 14:95107916-95107916	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5114A>T; p.E1705V; 14:95094138-95094138	pleura	pulmonary_blastoma	Substitution - Missense
c.3215C>A; p.A1072D; 14:95105125-95105125	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2432C>A; p.P811H; 14:95108328-95108328	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4417_4418insT; p.S1473fs*4; 14:95096502-95096503	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1022A>C; p.H341P; 14:95124550-95124550	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5463G>A; p.M1821I; 14:95091267-95091267	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4206+8_4206+9insTTGTG; p.?; 14:95099771-95099772	eye; uveal_tract	malignant_melanoma; spindle	Unknown
c.377A>G; p.N126S; 14:95131570-95131570	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.734+1G>A; p.?; 14:95129471-95129471	skin; extremity	malignant_melanoma	Unknown
c.5107C>A; p.R1703S; 14:95094145-95094145	skin	malignant_melanoma	Substitution - Missense
c.1175G>C; p.R392P; 14:95124397-95124397	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5066A>G; p.H1689R; 14:95095854-95095854	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2339C>T; p.P780L; 14:95108421-95108421	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4548A>T; p.K1516N; 14:95096372-95096372	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1102C>G; p.L368V; 14:95124470-95124470	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	pleura	pulmonary_blastoma	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	ovary	germ_cell_tumour; yolk_sac_tumour	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	kidney	other; cystic_nephroma	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	pleura	pulmonary_blastoma	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	pituitary	other; blastoma	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	kidney	other; cystic_nephroma	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	pleura	pulmonary_blastoma	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	testis	germ_cell_tumour; non_seminoma	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	pleura	pulmonary_blastoma	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	pleura	pulmonary_blastoma	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	kidney	other; cystic_nephroma	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.91C>T; p.P31S; 14:95133368-95133368	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	pleura	pulmonary_blastoma	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.1753-10A>T; p.?; 14:95115831-95115831	kidney	other; neoplasm	Unknown
c.5125G>A; p.D1709N; 14:95094127-95094127	pleura	pulmonary_blastoma	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	pleura	pulmonary_blastoma	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.3339C>T; p.S1113S; 14:95104057-95104057	skin	malignant_melanoma	Substitution - coding silent
c.4018G>C; p.E1340Q; 14:95103378-95103378	breast	carcinoma	Substitution - Missense
c.2330T>C; p.L777S; 14:95108430-95108430	prostate	carcinoma	Substitution - Missense
c.5107C>T; p.R1703C; 14:95094145-95094145	prostate	carcinoma	Substitution - Missense
c.5107C>T; p.R1703C; 14:95094145-95094145	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3116C>A; p.A1039D; 14:95105224-95105224	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1930G>A; p.D644N; 14:95113202-95113202	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3578A>G; p.N1193S; 14:95103818-95103818	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2483C>T; p.S828F; 14:95108047-95108047	skin	malignant_melanoma	Substitution - Missense
c.5094T>C; p.T1698T; 14:95095826-95095826	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5437G>C; p.E1813Q; 14:95091293-95091293	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5437G>C; p.E1813Q; 14:95091293-95091293	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5437G>C; p.E1813Q; 14:95091293-95091293	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5437G>C; p.E1813Q; 14:95091293-95091293	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5437G>C; p.E1813Q; 14:95091293-95091293	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5437G>C; p.E1813Q; 14:95091293-95091293	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1108C>A; p.L370M; 14:95124464-95124464	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4514C>G; p.S1505C; 14:95096406-95096406	urinary_tract; bladder	carcinoma	Substitution - Missense
c.128C>T; p.T43M; 14:95133331-95133331	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense

Mutation summary in protein domains

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

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]