Entrez Gene

Basic Information
Gene ID	5925
Name	RB1
Synonymous	retinoblastoma 1;RB1;retinoblastoma 1
Definition	prepro-retinoblastoma-associated protein\|protein phosphatase 1, regulatory subunit 130\|retinoblastoma suspectibility protein\|retinoblastoma-associated protein
Position	13q14.2
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 0.58.

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.400T>G; p.L134V; 13:48345099-48345099	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1411C>T; p.Q471*; 13:48380074-48380074	skin	malignant_melanoma; acral_lentiginous	Substitution - Nonsense
c.649C>T; p.Q217*; 13:48360058-48360058	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.649C>T; p.Q217*; 13:48360058-48360058	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.649C>T; p.Q217*; 13:48360058-48360058	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.1726_1729delTCAA; p.S576fs*34; 13:48453023-48453026	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Deletion - Frameshift
c.472T>C; p.L158L; 13:48345171-48345171	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.649C>T; p.Q217*; 13:48360058-48360058	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.649C>T; p.Q217*; 13:48360058-48360058	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.649C>T; p.Q217*; 13:48360058-48360058	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2244delG; p.E748fs*6; 13:48465030-48465030	eye; retina	retinoblastoma	Deletion - Frameshift
c.2244delG; p.E748fs*6; 13:48465030-48465030	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.2496_2497delAG; p.L832fs*5; 13:48473366-48473367	eye; retina	retinoblastoma	Deletion - Frameshift
c.615A>G; p.V205V; 13:48360024-48360024	skin	malignant_melanoma	Substitution - coding silent
c.2187delG; p.D730fs*14; 13:48463811-48463811	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.1448A>G; p.H483R; 13:48380191-48380191	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.157G>A; p.E53K; 13:48307299-48307299	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.967G>T; p.E323*; 13:48367521-48367521	eye; retina	retinoblastoma	Substitution - Nonsense
c.967G>T; p.E323*; 13:48367521-48367521	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.967G>T; p.E323*; 13:48367521-48367521	prostate	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1654C>T; p.R552*; 13:48381402-48381402	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1654C>T; p.R552*; 13:48381402-48381402	eye; retina	retinoblastoma	Substitution - Nonsense
c.1654C>T; p.R552*; 13:48381402-48381402	liver	carcinoma	Substitution - Nonsense
c.235G>T; p.E79*; 13:48307377-48307377	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.962A>G; p.Y321C; 13:48367516-48367516	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1463C>A; p.A488E; 13:48380206-48380206	liver	carcinoma	Substitution - Missense
c.1654C>T; p.R552*; 13:48381402-48381402	eye; retina	retinoblastoma	Substitution - Nonsense
c.1654C>T; p.R552*; 13:48381402-48381402	breast	carcinoma	Substitution - Nonsense
c.1654C>T; p.R552*; 13:48381402-48381402	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1391delA; p.E465fs*13; 13:48380054-48380054	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.1352G>A; p.R451H; 13:48379613-48379613	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.335A>G; p.E112G; 13:48342669-48342669	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1654C>T; p.R552*; 13:48381402-48381402	eye; retina	retinoblastoma	Substitution - Nonsense
c.1654C>T; p.R552*; 13:48381402-48381402	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.648delT; p.Q217fs*2; 13:48360057-48360057	soft_tissue; fibrous_tissue_and_uncertain_o	malignant_fibrous_histiocytoma-pleomorphic_sarcoma; storiform_pleomorphic	Deletion - Frameshift
c.203A>G; p.D68G; 13:48307345-48307345	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.753A>G; p.R251R; 13:48362849-48362849	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2212-2A>T; p.?; 13:48464996-48464996	lung	carcinoma; small_cell_carcinoma	Unknown
c.341C>T; p.S114L; 13:48342675-48342675	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1216_1237del22; p.N406fs*4; 13:48376918-48376939	eye; retina	retinoblastoma	Deletion - Frameshift
c.364delA; p.N123fs*2; 13:48342698-48342698	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.2336T>A; p.L779*; 13:48465215-48465215	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1735_1744del10; p.R579fs*29; 13:48453032-48453041	eye; retina	retinoblastoma	Deletion - Frameshift
c.1976A>T; p.Y659F; 13:48459703-48459703	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.264+1G>C; p.?; 13:48307407-48307407	urinary_tract; bladder	carcinoma	Unknown
c.1976A>T; p.Y659F; 13:48459703-48459703	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2390_2406del17; p.L797fs*1; 13:48465269-48465285	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.1237G>T; p.E413*; 13:48376939-48376939	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1738G>T; p.E580*; 13:48453035-48453035	fallopian_tube	carcinoma; serous_carcinoma	Substitution - Nonsense
c.2051delT; p.F684fs*12; 13:48459778-48459778	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.2158A>T; p.K720*; 13:48463782-48463782	eye; retina	retinoblastoma	Substitution - Nonsense
c.2489+1G>C; p.?; 13:48465369-48465369	urinary_tract; bladder	carcinoma	Unknown
c.2326-2A>C; p.?; 13:48465203-48465203	eye; retina	retinoblastoma	Unknown
c.2326-2A>C; p.?; 13:48465203-48465203	soft_tissue; fibrous_tissue_and_uncertain_o	malignant_fibrous_histiocytoma-pleomorphic_sarcoma; myxoid	Unknown
c.470T>C; p.V157A; 13:48345169-48345169	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.861+1G>T; p.?; 13:48362958-48362958	breast	other; fibroadenoma	Unknown
c.470T>C; p.V157A; 13:48345169-48345169	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2489+1G>C; p.?; 13:48465369-48465369	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Unknown
c.2489+1G>C; p.?; 13:48465369-48465369	urinary_tract; bladder	carcinoma	Unknown
c.452T>C; p.L151P; 13:48345151-48345151	oesophagus	carcinoma	Substitution - Missense
c.1128-2A>T; p.?; 13:48373403-48373403	pancreas	carcinoma; acinar_carcinoma	Unknown
c.1106delT; p.P370fs*10; 13:48368583-48368583	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.585G>A; p.W195*; 13:48349001-48349001	skin; scalp	carcinoma; Merkel_cell_carcinoma	Substitution - Nonsense
c.380+2T>A; p.?; 13:48342716-48342716	lung	carcinoma; small_cell_carcinoma	Unknown
c.2107A>T; p.I703F; 13:48463731-48463731	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.585G>A; p.W195*; 13:48349001-48349001	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Nonsense
c.265-2A>C; p.?; 13:48342597-48342597	eye; retina	retinoblastoma	Unknown
c.585G>A; p.W195*; 13:48349001-48349001	skin	malignant_melanoma	Substitution - Nonsense
c.1344T>G; p.L448L; 13:48379605-48379605	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1363C>A; p.R455R; 13:48379624-48379624	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.379A>T; p.S127C; 13:48342713-48342713	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1666C>T; p.R556*; 13:48381414-48381414	eye; retina	retinoblastoma	Substitution - Nonsense
c.1666C>T; p.R556*; 13:48381414-48381414	skin	malignant_melanoma	Substitution - Nonsense
c.1666C>T; p.R556*; 13:48381414-48381414	eye; retina	retinoblastoma	Substitution - Nonsense
c.1666C>T; p.R556*; 13:48381414-48381414	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1499-2A>T; p.?; 13:48381245-48381245	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.1666C>T; p.R556*; 13:48381414-48381414	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1666C>T; p.R556*; 13:48381414-48381414	eye; retina	retinoblastoma	Substitution - Nonsense
c.1666C>T; p.R556*; 13:48381414-48381414	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1666C>T; p.R556*; 13:48381414-48381414	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1499-2A>T; p.?; 13:48381245-48381245	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.958C>T; p.R320*; 13:48367512-48367512	eye; retina	retinoblastoma	Substitution - Nonsense
c.958C>T; p.R320*; 13:48367512-48367512	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.958C>T; p.R320*; 13:48367512-48367512	eye; retina	retinoblastoma	Substitution - Nonsense
c.958C>T; p.R320*; 13:48367512-48367512	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.958C>T; p.R320*; 13:48367512-48367512	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.958C>T; p.R320*; 13:48367512-48367512	eye; retina	retinoblastoma	Substitution - Nonsense
c.1325delG; p.G442fs*15; 13:48377027-48377027	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.718+3A>T; p.?; 13:48360130-48360130	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Unknown
c.2065_2066ins100; p.Q689fs; 13:48459792-48459793	eye; retina	retinoblastoma	Insertion - Frameshift
c.958C>T; p.R320*; 13:48367512-48367512	eye; retina	retinoblastoma	Substitution - Nonsense
c.958C>T; p.R320*; 13:48367512-48367512	eye; retina	retinoblastoma	Substitution - Nonsense
c.958C>T; p.R320*; 13:48367512-48367512	eye; retina	retinoblastoma	Substitution - Nonsense
c.2182T>C; p.Y728H; 13:48463806-48463806	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.958C>T; p.R320*; 13:48367512-48367512	eye; retina	retinoblastoma	Substitution - Nonsense
c.2212-1G>C; p.?; 13:48464997-48464997	oesophagus	carcinoma	Unknown
c.958C>T; p.R320*; 13:48367512-48367512	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.1598A>G; p.E533G; 13:48381346-48381346	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2240_2241delAG; p.E747fs*3; 13:48465026-48465027	eye; retina	retinoblastoma	Deletion - Frameshift
c.1816_1817insT; p.Y606fs*47; 13:48456205-48456206	eye; retina	retinoblastoma	Insertion - Frameshift
c.498A>G; p.E166E; 13:48345197-48345197	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.498A>G; p.E166E; 13:48345197-48345197	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.555delA; p.N186fs*6; 13:48348971-48348971	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.1598A>G; p.E533G; 13:48381346-48381346	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1598A>G; p.E533G; 13:48381346-48381346	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.982A>C; p.N328H; 13:48367536-48367536	eye; retina	retinoblastoma	Substitution - Missense
c.608-1G>A; p.?; 13:48360016-48360016	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Unknown
c.2363G>A; p.S788N; 13:48465242-48465242	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.608-1G>A; p.?; 13:48360016-48360016	urinary_tract; bladder	carcinoma	Unknown
c.2107-2A>T; p.?; 13:48463729-48463729	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.441_442insC; p.M148fs*9; 13:48345140-48345141	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Insertion - Frameshift
c.2212_2325del114; p.T738_R775del38; 13:48464998-48465111	breast	carcinoma; basal_(triple-negative)_carcinoma	Deletion - In frame
c.1961-1G>T; p.?; 13:48459687-48459687	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.2258_2259insT; p.V754fs*4; 13:48465044-48465045	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.450A>T; p.R150S; 13:48345149-48345149	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2565C>T; p.S855S; 13:48476745-48476745	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1961-1G>T; p.?; 13:48459687-48459687	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1334G>T; p.R445L; 13:48379595-48379595	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1814+2T>C; p.?; 13:48453113-48453113	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1596C>T; p.I532I; 13:48381344-48381344	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.379A>G; p.S127G; 13:48342713-48342713	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2590G>T; p.E864*; 13:48476770-48476770	breast	carcinoma	Substitution - Nonsense
c.959G>T; p.R320L; 13:48367513-48367513	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1964_1965insCCT; p.Y655_R656insL; 13:48459691-48459692	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Insertion - In frame
c.2307_2308GC>TT; p.L769_Q770>F*; 13:48465093-48465094	lung	carcinoma; small_cell_carcinoma	Complex - compound substitution
c.2381G>T; p.S794I; 13:48465260-48465260	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.959G>T; p.R320L; 13:48367513-48367513	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1382T>C; p.L461P; 13:48379643-48379643	skin	malignant_melanoma	Substitution - Missense
c.1467C>A; p.C489*; 13:48380210-48380210	eye; retina	retinoblastoma	Substitution - Nonsense
c.1163T>G; p.I388S; 13:48373440-48373440	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.561T>C; p.S187S; 13:48348977-48348977	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.561T>C; p.S187S; 13:48348977-48348977	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.963C>T; p.Y321Y; 13:48367517-48367517	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1346delG; p.G449fs*8; 13:48379607-48379607	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.561T>C; p.S187S; 13:48348977-48348977	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.963C>T; p.Y321Y; 13:48367517-48367517	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1768T>C; p.C590R; 13:48453065-48453065	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.181delT; p.C61fs*4; 13:48307323-48307323	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.1818T>G; p.Y606*; 13:48456207-48456207	breast	carcinoma	Substitution - Nonsense
c.1786C>G; p.L596V; 13:48453083-48453083	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1499-2A>G; p.?; 13:48381245-48381245	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.2092A>G; p.R698G; 13:48459819-48459819	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2092A>G; p.R698G; 13:48459819-48459819	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2092A>G; p.R698G; 13:48459819-48459819	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2092A>G; p.R698G; 13:48459819-48459819	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2092A>G; p.R698G; 13:48459819-48459819	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.222T>C; p.A74A; 13:48307364-48307364	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.539C>T; p.S180L; 13:48347863-48347863	liver	carcinoma	Substitution - Missense
c.559T>A; p.S187T; 13:48348975-48348975	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.380+1G>T; p.?; 13:48342715-48342715	eye; retina	retinoblastoma	Unknown
c.1363C>T; p.R455*; 13:48379624-48379624	skin	malignant_melanoma	Substitution - Nonsense
c.757delC; p.R254fs*10; 13:48362853-48362853	breast	carcinoma	Deletion - Frameshift
c.1363C>T; p.R455*; 13:48379624-48379624	skin	malignant_melanoma	Substitution - Nonsense
c.1363C>T; p.R455*; 13:48379624-48379624	skin	malignant_melanoma	Substitution - Nonsense
c.1363C>T; p.R455*; 13:48379624-48379624	skin	malignant_melanoma	Substitution - Nonsense
c.1363C>T; p.R455*; 13:48379624-48379624	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Nonsense
c.1363C>T; p.R455*; 13:48379624-48379624	eye; retina	retinoblastoma	Substitution - Nonsense
c.1363C>T; p.R455*; 13:48379624-48379624	eye; retina	retinoblastoma	Substitution - Nonsense
c.1363C>T; p.R455*; 13:48379624-48379624	breast	carcinoma	Substitution - Nonsense
c.1363C>T; p.R455*; 13:48379624-48379624	eye; retina	retinoblastoma	Substitution - Nonsense
c.1574delC; p.F526fs*6; 13:48381322-48381322	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.236A>G; p.E79G; 13:48307378-48307378	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1363C>T; p.R455*; 13:48379624-48379624	liver	carcinoma	Substitution - Nonsense
c.1363C>T; p.R455*; 13:48379624-48379624	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2559T>A; p.C853*; 13:48476739-48476739	breast	carcinoma	Substitution - Nonsense
c.2143A>G; p.K715E; 13:48463767-48463767	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1049+1G>T; p.?; 13:48367604-48367604	eye; retina	retinoblastoma	Unknown
c.2408_2415delACATCTAT; p.I804fs*8; 13:48465287-48465294	breast	carcinoma	Deletion - Frameshift
c.2143A>G; p.K715E; 13:48463767-48463767	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.969A>C; p.E323D; 13:48367523-48367523	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1770T>C; p.C590C; 13:48453067-48453067	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.607+1G>A; p.?; 13:48349024-48349024	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Unknown
c.607+1G>A; p.?; 13:48349024-48349024	oesophagus	carcinoma	Unknown
c.607+1G>A; p.?; 13:48349024-48349024	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Unknown
c.264G>T; p.L88F; 13:48307406-48307406	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2391_2392insA; p.R798fs*17; 13:48465270-48465271	eye	retinoblastoma	Insertion - Frameshift
c.868A>C; p.N290H; 13:48364900-48364900	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1770T>C; p.C590C; 13:48453067-48453067	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4C>T; p.P2S; 13:48303916-48303916	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2036delT; p.I679fs*17; 13:48459763-48459763	liver	carcinoma	Deletion - Frameshift
c.2517C>T; p.F839F; 13:48473387-48473387	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2517C>T; p.F839F; 13:48473387-48473387	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Substitution - coding silent
c.265_607del343; p.?; 13:48342599-48349023	breast	carcinoma; basal_(triple-negative)_carcinoma	Unknown
c.2018A>C; p.H673P; 13:48459745-48459745	lung	carcinoma; mixed_adenosquamous_carcinoma	Substitution - Missense
c.2490-1G>C; p.?; 13:48473359-48473359	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.464_465insTGATG; p.L158fs*19; 13:48345163-48345164	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.786G>A; p.R262R; 13:48362882-48362882	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2626C>T; p.R876C; 13:48476806-48476806	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2364C>T; p.S788S; 13:48465243-48465243	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2106+1G>T; p.?; 13:48459834-48459834	lung	carcinoma; small_cell_carcinoma	Unknown
c.1723_1726delCAAT; p.S576fs*34; 13:48453020-48453023	eye; retina	retinoblastoma	Deletion - Frameshift
c.1049+1G>A; p.?; 13:48367604-48367604	liver	carcinoma	Unknown
c.2261T>G; p.V754G; 13:48465047-48465047	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.153A>G; p.E51E; 13:48307295-48307295	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.853A>G; p.I285V; 13:48362949-48362949	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1049+1G>A; p.?; 13:48367604-48367604	liver	carcinoma	Unknown
c.2102_2106+8delACCAAGTAAGAAA; p.?; 13:48459829-48459841	breast	carcinoma; basal_(triple-negative)_carcinoma	Unknown
c.719_724delAAACAG; p.K240_A242>T; 13:48362815-48362820	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Complex - deletion inframe
c.2261T>G; p.V754G; 13:48465047-48465047	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.746C>G; p.S249*; 13:48362842-48362842	skin	malignant_melanoma	Substitution - Nonsense
c.1215+1G>A; p.?; 13:48373493-48373493	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Unknown
c.2489+1G>T; p.?; 13:48465369-48465369	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1215+1G>A; p.?; 13:48373493-48373493	eye; retina	retinoblastoma	Unknown
c.1215+1G>A; p.?; 13:48373493-48373493	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1215+1G>A; p.?; 13:48373493-48373493	urinary_tract; bladder	carcinoma	Unknown
c.1215+1G>A; p.?; 13:48373493-48373493	eye; retina	retinoblastoma	Unknown
c.1215+1G>A; p.?; 13:48373493-48373493	bone; tibia	osteosarcoma	Unknown
c.1215+1G>A; p.?; 13:48373493-48373493	urinary_tract; bladder	carcinoma	Unknown
c.1215+1G>A; p.?; 13:48373493-48373493	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1215+1G>A; p.?; 13:48373493-48373493	ovary	carcinoma; serous_carcinoma	Unknown
c.1215+1G>A; p.?; 13:48373493-48373493	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.2263T>A; p.F755I; 13:48465049-48465049	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2489+1G>T; p.?; 13:48465369-48465369	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.2495delT; p.L832fs*1; 13:48473365-48473365	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.785delG; p.I263fs*1; 13:48362881-48362881	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.1960G>A; p.V654M; 13:48456349-48456349	skin; trunk	malignant_melanoma	Substitution - Missense
c.2023G>A; p.E675K; 13:48459750-48459750	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2183A>G; p.Y728C; 13:48463807-48463807	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2183A>G; p.Y728C; 13:48463807-48463807	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1049+3A>G; p.?; 13:48367606-48367606	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Unknown
c.2183A>G; p.Y728C; 13:48463807-48463807	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1960G>A; p.V654M; 13:48456349-48456349	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1190C>A; p.S397*; 13:48373467-48373467	central_nervous_system; brain	glioma; astrocytoma_Grade_II	Substitution - Nonsense
c.964G>T; p.E322*; 13:48367518-48367518	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1190C>A; p.S397*; 13:48373467-48373467	ovary	other; neoplasm	Substitution - Nonsense
c.162A>G; p.E54E; 13:48307304-48307304	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.162A>G; p.E54E; 13:48307304-48307304	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.484T>A; p.F162I; 13:48345183-48345183	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.162A>G; p.E54E; 13:48307304-48307304	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1135A>T; p.M379L; 13:48373412-48373412	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1463C>T; p.A488V; 13:48380206-48380206	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1463C>T; p.A488V; 13:48380206-48380206	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1183C>T; p.Q395*; 13:48373460-48373460	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.2152G>A; p.D718N; 13:48463776-48463776	eye; retina	retinoblastoma	Substitution - Missense
c.2570G>T; p.R857L; 13:48476750-48476750	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1463C>T; p.A488V; 13:48380206-48380206	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2028_2040del13; p.L676fs*16; 13:48459755-48459767	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.1183C>T; p.Q395*; 13:48373460-48373460	eye; retina	retinoblastoma	Substitution - Nonsense
c.1463C>T; p.A488V; 13:48380206-48380206	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2152G>A; p.D718N; 13:48463776-48463776	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2031delA; p.E677fs*19; 13:48459758-48459758	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - Frameshift
c.1183C>T; p.Q395*; 13:48373460-48373460	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1818T>A; p.Y606*; 13:48456207-48456207	soft_tissue; fat	liposarcoma; pleomorphic	Substitution - Nonsense
c.596T>A; p.L199*; 13:48349012-48349012	skin	malignant_melanoma	Substitution - Nonsense
c.596T>A; p.L199*; 13:48349012-48349012	skin	malignant_melanoma	Substitution - Nonsense
c.596T>A; p.L199*; 13:48349012-48349012	skin	malignant_melanoma	Substitution - Nonsense
c.596T>A; p.L199*; 13:48349012-48349012	skin	malignant_melanoma	Substitution - Nonsense
c.969A>G; p.E323E; 13:48367523-48367523	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.450A>G; p.R150R; 13:48345149-48345149	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.342G>A; p.S114S; 13:48342676-48342676	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1468G>T; p.A490S; 13:48380211-48380211	liver	carcinoma	Substitution - Missense
c.1468G>T; p.A490S; 13:48380211-48380211	liver	carcinoma	Substitution - Missense
c.2239G>T; p.E747*; 13:48465025-48465025	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Nonsense
c.413T>C; p.I138T; 13:48345112-48345112	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.380G>A; p.S127N; 13:48342714-48342714	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.377T>G; p.I126S; 13:48342711-48342711	eye; retina	retinoblastoma	Substitution - Missense
c.346_349delACTT; p.T116fs*8; 13:48342680-48342683	central_nervous_system; brain	glioma	Deletion - Frameshift
c.1467C>G; p.C489W; 13:48380210-48380210	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.764G>A; p.R255Q; 13:48362860-48362860	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1960+1G>A; p.?; 13:48456350-48456350	eye; retina	retinoblastoma	Unknown
c.2409_2410insATCT; p.I806fs*10; 13:48465288-48465289	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.764G>A; p.R255Q; 13:48362860-48362860	breast	carcinoma	Substitution - Missense
c.184C>A; p.Q62K; 13:48307326-48307326	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2003G>A; p.R668H; 13:48459730-48459730	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.268G>A; p.G90S; 13:48342602-48342602	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.229delA; p.T77fs*34; 13:48307371-48307371	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.2520delG; p.T841fs*8; 13:48473390-48473390	eye; retina	retinoblastoma	Deletion - Frameshift
c.2346A>G; p.I782M; 13:48465225-48465225	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1736G>T; p.R579L; 13:48453033-48453033	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2604T>C; p.P868P; 13:48476784-48476784	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1216-2A>G; p.?; 13:48376916-48376916	eye; retina	retinoblastoma	Unknown
c.1216-2A>G; p.?; 13:48376916-48376916	pancreas	carcinoma	Unknown
c.52G>A; p.A18T; 13:48303964-48303964	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1216-2A>G; p.?; 13:48376916-48376916	pancreas	carcinoma	Unknown
c.1216-2A>G; p.?; 13:48376916-48376916	pancreas	carcinoma; small_cell_carcinoma	Unknown
c.1962G>T; p.V654V; 13:48459689-48459689	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.1535T>A; p.L512*; 13:48381283-48381283	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Nonsense
c.1332G>T; p.Q444H; 13:48377034-48377034	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1004T>G; p.L335*; 13:48367558-48367558	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1960+2T>C; p.?; 13:48456351-48456351	eye; retina	retinoblastoma	Unknown
c.1960+2T>C; p.?; 13:48456351-48456351	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1332G>T; p.Q444H; 13:48377034-48377034	soft_tissue; fibrous_tissue_and_uncertain_o	malignant_fibrous_histiocytoma-pleomorphic_sarcoma; mixed	Substitution - Missense
c.160G>T; p.E54*; 13:48307302-48307302	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.540-2_551delAGGATATCTACTGA; p.?; 13:48348954-48348967	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.160G>T; p.E54*; 13:48307302-48307302	eye; retina	retinoblastoma	Substitution - Nonsense
c.152A>G; p.E51G; 13:48307294-48307294	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.152A>G; p.E51G; 13:48307294-48307294	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2106A>G; p.Q702Q; 13:48459833-48459833	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2465delC; p.P822fs*4; 13:48465344-48465344	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.2617A>G; p.K873E; 13:48476797-48476797	breast	carcinoma	Substitution - Missense
c.2709A>G; p.E903E; 13:48477400-48477400	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1939_1940delCT; p.L647fs*5; 13:48456328-48456329	eye; retina	retinoblastoma	Deletion - Frameshift
c.785G>A; p.R262Q; 13:48362881-48362881	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.712C>T; p.P238S; 13:48360121-48360121	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.785G>A; p.R262Q; 13:48362881-48362881	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1447_1448delCA; p.H483fs*9; 13:48380190-48380191	eye; retina	retinoblastoma	Deletion - Frameshift
c.1939_1940delCT; p.L647fs*5; 13:48456328-48456329	eye; retina	retinoblastoma	Deletion - Frameshift
c.1700C>T; p.S567L; 13:48452997-48452997	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2084delT; p.M695fs*10; 13:48459811-48459811	eye; retina	retinoblastoma	Deletion - Frameshift
c.2094G>T; p.R698S; 13:48459821-48459821	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.289delG; p.E97fs*14; 13:48342623-48342623	prostate	carcinoma	Deletion - Frameshift
c.289delG; p.E97fs*14; 13:48342623-48342623	prostate	carcinoma	Deletion - Frameshift
c.1333C>T; p.R445*; 13:48379594-48379594	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1333C>T; p.R445*; 13:48379594-48379594	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1333C>T; p.R445*; 13:48379594-48379594	eye; retina	retinoblastoma	Substitution - Nonsense
c.1860G>A; p.T620T; 13:48456249-48456249	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1333C>T; p.R445*; 13:48379594-48379594	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1333C>T; p.R445*; 13:48379594-48379594	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2548C>T; p.Q850*; 13:48476728-48476728	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1333C>T; p.R445*; 13:48379594-48379594	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.299G>C; p.G100A; 13:48342633-48342633	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1333C>T; p.R445*; 13:48379594-48379594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.823G>T; p.E275*; 13:48362919-48362919	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2548C>T; p.Q850*; 13:48476728-48476728	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1333C>T; p.R445*; 13:48379594-48379594	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.2384C>A; p.S795*; 13:48465263-48465263	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1333C>T; p.R445*; 13:48379594-48379594	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1333C>T; p.R445*; 13:48379594-48379594	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1333C>T; p.R445*; 13:48379594-48379594	eye; retina	retinoblastoma	Substitution - Nonsense
c.1333C>T; p.R445*; 13:48379594-48379594	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1333C>T; p.R445*; 13:48379594-48379594	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1333C>T; p.R445*; 13:48379594-48379594	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.962A>T; p.Y321F; 13:48367516-48367516	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1333C>T; p.R445*; 13:48379594-48379594	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1333C>T; p.R445*; 13:48379594-48379594	eye; retina	retinoblastoma	Substitution - Nonsense
c.1860G>A; p.T620T; 13:48456249-48456249	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1499-2A>C; p.?; 13:48381245-48381245	lung	carcinoma; small_cell_carcinoma	Unknown
c.1_2787del2787; p.0?; 13:48303913-48480071	bone; tibia	malignant_fibrous_histiocytoma-pleomorphic_sarcoma	Whole gene deletion
c.1_2787del2787; p.0?; 13:48303913-48480071	bone; femur	malignant_fibrous_histiocytoma-pleomorphic_sarcoma	Whole gene deletion
c.1_2787del2787; p.0?; 13:48303913-48480071	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Whole gene deletion
c.1_2787del2787; p.0?; 13:48303913-48480071	eye; retina	retinoblastoma	Whole gene deletion
c.1_2787del2787; p.0?; 13:48303913-48480071	bone; pelvis	malignant_fibrous_histiocytoma-pleomorphic_sarcoma	Whole gene deletion
c.1_2787del2787; p.0?; 13:48303913-48480071	breast	carcinoma; luminal_NS_carcinoma	Whole gene deletion
c.1_2787del2787; p.0?; 13:48303913-48480071	bone; pelvis	malignant_fibrous_histiocytoma-pleomorphic_sarcoma	Whole gene deletion
c.1_2787del2787; p.0?; 13:48303913-48480071	bone; pelvis	malignant_fibrous_histiocytoma-pleomorphic_sarcoma	Whole gene deletion
c.1700C>A; p.S567*; 13:48452997-48452997	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1_2787del2787; p.0?; 13:48303913-48480071	bone; pelvis	malignant_fibrous_histiocytoma-pleomorphic_sarcoma	Whole gene deletion
c.1_2787del2787; p.0?; 13:48303913-48480071	bone; tibia	malignant_fibrous_histiocytoma-pleomorphic_sarcoma	Whole gene deletion
c.1_2787del2787; p.0?; 13:48303913-48480071	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma	Whole gene deletion
c.1_2787del2787; p.0?; 13:48303913-48480071	bone; femur	chondrosarcoma; central	Whole gene deletion
c.1_2787del2787; p.0?; 13:48303913-48480071	soft_tissue; fibrous_tissue_and_uncertain_o	gastrointestinal_stromal_tumour	Whole gene deletion
c.1982G>A; p.R661Q; 13:48459709-48459709	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1_2787del2787; p.0?; 13:48303913-48480071	bone; femur	malignant_fibrous_histiocytoma-pleomorphic_sarcoma	Whole gene deletion
c.1_2787del2787; p.0?; 13:48303913-48480071	bone; femur	malignant_fibrous_histiocytoma-pleomorphic_sarcoma	Whole gene deletion
c.2118T>C; p.C706C; 13:48463742-48463742	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2118T>C; p.C706C; 13:48463742-48463742	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2106+2T>G; p.?; 13:48459835-48459835	eye; retina	retinoblastoma	Unknown
c.2118T>C; p.C706C; 13:48463742-48463742	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.539+1G>A; p.?; 13:48347864-48347864	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2118T>C; p.C706C; 13:48463742-48463742	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1494T>C; p.Y498Y; 13:48380237-48380237	breast	carcinoma	Substitution - coding silent
c.968A>G; p.E323G; 13:48367522-48367522	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2664-10T>A; p.?; 13:48477345-48477345	stomach	carcinoma; adenocarcinoma	Unknown
c.968A>G; p.E323G; 13:48367522-48367522	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.500+2delT; p.?; 13:48345201-48345201	eye; retina	retinoblastoma	Unknown
c.1050-1G>C; p.?; 13:48368526-48368526	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Unknown
c.1050-1G>C; p.?; 13:48368526-48368526	ovary	other; neoplasm	Unknown
c.769C>T; p.Q257*; 13:48362865-48362865	skin	malignant_melanoma	Substitution - Nonsense
c.1050-2A>T; p.?; 13:48368525-48368525	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.929G>A; p.G310E; 13:48364961-48364961	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2308C>T; p.Q770*; 13:48465094-48465094	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.171_172insT; p.T58fs*52; 13:48307313-48307314	eye; retina	retinoblastoma	Insertion - Frameshift
c.769C>T; p.Q257*; 13:48362865-48362865	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2083A>G; p.M695V; 13:48459810-48459810	large_intestine; rectum	NS	Substitution - Missense
c.1597G>A; p.E533K; 13:48381345-48381345	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2053C>T; p.Q685*; 13:48459780-48459780	eye; retina	retinoblastoma	Substitution - Nonsense
c.1597G>A; p.E533K; 13:48381345-48381345	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2053C>T; p.Q685*; 13:48459780-48459780	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2053C>T; p.Q685*; 13:48459780-48459780	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.584delG; p.W195fs*1; 13:48349000-48349000	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.265_2787del2523; p.?; 13:48342599-48480071	breast	carcinoma; basal_(triple-negative)_carcinoma	Unknown
c.770A>G; p.Q257R; 13:48362866-48362866	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1577_1578TT>AA; p.F526*; 13:48381325-48381326	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1585_1586insT; p.Y529fs*26; 13:48381333-48381334	eye; retina	retinoblastoma	Insertion - Frameshift
c.1861C>A; p.R621S; 13:48456250-48456250	pituitary	adenoma; ACTH-FSH-GH-LH-PRL	Substitution - Missense
c.2329C>T; p.P777S; 13:48465208-48465208	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1861C>A; p.R621S; 13:48456250-48456250	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.200C>A; p.P67Q; 13:48307342-48307342	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2107-1G>A; p.?; 13:48463730-48463730	lung	carcinoma; adenocarcinoma	Unknown
c.1981C>T; p.R661W; 13:48459708-48459708	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2107_2211del105; p.I703_E737del35; 13:48463731-48463835	prostate	carcinoma; adenocarcinoma	Deletion - In frame
c.1981C>T; p.R661W; 13:48459708-48459708	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1981C>T; p.R661W; 13:48459708-48459708	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.1981C>T; p.R661W; 13:48459708-48459708	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1981C>T; p.R661W; 13:48459708-48459708	oesophagus	carcinoma	Substitution - Missense
c.1981C>T; p.R661W; 13:48459708-48459708	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2107-1G>A; p.?; 13:48463730-48463730	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.2107_2211del105; p.I703_E737del35; 13:48463731-48463835	ovary	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1498+2_1498+20del19; p.?; 13:48380243-48380261	liver	carcinoma	Unknown
c.2214A>G; p.T738T; 13:48465000-48465000	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.2520+4A>G; p.?; 13:48473394-48473394	eye; retina	retinoblastoma	Unknown
c.151G>T; p.E51*; 13:48307293-48307293	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1834T>C; p.S612P; 13:48456223-48456223	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.225G>A; p.W75*; 13:48307367-48307367	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.184C>T; p.Q62*; 13:48307326-48307326	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.225G>A; p.W75*; 13:48307367-48307367	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1834T>C; p.S612P; 13:48456223-48456223	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1834T>C; p.S612P; 13:48456223-48456223	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.607+1G>T; p.?; 13:48349024-48349024	ovary	other; neoplasm	Unknown
c.184C>T; p.Q62*; 13:48307326-48307326	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.184C>T; p.Q62*; 13:48307326-48307326	eye; retina	retinoblastoma	Substitution - Nonsense
c.1442delT; p.H483fs*12; 13:48380185-48380185	pancreas	carcinoma; acinar_carcinoma	Deletion - Frameshift
c.1167_1174delAAATTCAG; p.L389fs*3; 13:48373444-48373451	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.225G>A; p.W75*; 13:48307367-48307367	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.184C>T; p.Q62*; 13:48307326-48307326	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.298G>A; p.G100R; 13:48342632-48342632	skin; upper_leg	carcinoma; Merkel_cell_carcinoma	Substitution - Missense
c.842_843insAT; p.H281fs*6; 13:48362938-48362939	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.515_516delTA; p.Y173fs*11; 13:48347839-48347840	eye	retinoblastoma	Deletion - Frameshift
c.2242G>T; p.E748*; 13:48465028-48465028	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1271A>G; p.Y424C; 13:48376973-48376973	large_intestine; rectum	NS	Substitution - Missense
c.2242G>T; p.E748*; 13:48465028-48465028	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.195G>T; p.K65N; 13:48307337-48307337	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.138-1G>T; p.?; 13:48307279-48307279	lung	carcinoma; adenocarcinoma	Unknown
c.411A>G; p.E137E; 13:48345110-48345110	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1499_1695del197; p.?; 13:48381247-48381443	eye; retina	retinoblastoma	Unknown
c.1696-2A>G; p.?; 13:48452991-48452991	lung	carcinoma; adenocarcinoma	Unknown
c.1696-2A>G; p.?; 13:48452991-48452991	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.2486C>G; p.S829*; 13:48465365-48465365	breast	carcinoma	Substitution - Nonsense
c.1656_1671del16; p.C553fs*53; 13:48381404-48381419	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.2486C>G; p.S829*; 13:48465365-48465365	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1165T>C; p.L389L; 13:48373442-48373442	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1076_1080delAAAGT; p.S360fs*2; 13:48368553-48368557	breast	carcinoma	Deletion - Frameshift
c.1163T>C; p.I388T; 13:48373440-48373440	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1543C>T; p.P515S; 13:48381291-48381291	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1688G>T; p.W563L; 13:48381436-48381436	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.277C>T; p.Q93*; 13:48342611-48342611	breast	carcinoma	Substitution - Nonsense
c.2273C>T; p.S758L; 13:48465059-48465059	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1163T>C; p.I388T; 13:48373440-48373440	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1575C>T; p.A525A; 13:48381323-48381323	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.277C>T; p.Q93*; 13:48342611-48342611	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1684G>C; p.A562P; 13:48381432-48381432	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1753C>A; p.H585N; 13:48453050-48453050	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.373G>T; p.E125*; 13:48342707-48342707	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.265-1G>A; p.?; 13:48342598-48342598	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.265-1G>A; p.?; 13:48342598-48342598	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.373G>T; p.E125*; 13:48342707-48342707	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.995A>G; p.D332G; 13:48367549-48367549	haematopoietic_and_lymphoid_tissue; skin	haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm	Substitution - Missense
c.409G>T; p.E137*; 13:48345108-48345108	eye; retina	retinoblastoma	Substitution - Nonsense
c.409G>T; p.E137*; 13:48345108-48345108	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.409G>T; p.E137*; 13:48345108-48345108	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.409G>T; p.E137*; 13:48345108-48345108	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.440C>T; p.A147V; 13:48345139-48345139	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.409G>T; p.E137*; 13:48345108-48345108	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.161A>G; p.E54G; 13:48307303-48307303	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.161A>G; p.E54G; 13:48307303-48307303	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.409G>T; p.E137*; 13:48345108-48345108	eye; retina	retinoblastoma	Substitution - Nonsense
c.1215+1G>A; p.?; 13:48373493-48373493	eye; retina	retinoblastoma	Unknown
c.1215+1G>A; p.?; 13:48373493-48373493	eye; retina	retinoblastoma	Unknown
c.1859C>T; p.T620M; 13:48456248-48456248	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.1215+1G>A; p.?; 13:48373493-48373493	eye; retina	retinoblastoma	Unknown
c.752G>A; p.R251Q; 13:48362848-48362848	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2491delA; p.?fs; 13:48473361-48473361	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.1420_1421+30del; p.?; 13:48380083-48380084	eye; retina	retinoblastoma	Unknown
c.1504_1510ACATCTC>21; p.T502fs*22; 13:48381252-48381258	eye; retina	retinoblastoma	Complex - frameshift
c.1789C>T; p.Q597*; 13:48453086-48453086	skin; face	carcinoma; Merkel_cell_carcinoma	Substitution - Nonsense
c.1789C>T; p.Q597*; 13:48453086-48453086	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Nonsense
c.2077delG; p.E693fs*3; 13:48459804-48459804	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - Frameshift
c.2212-27delCTACTTTTACAT; p.?; 13:48464971-48464982	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.2077delG; p.E693fs*3; 13:48459804-48459804	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - Frameshift
c.2288G>C; p.R763T; 13:48465074-48465074	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.282G>T; p.K94N; 13:48342616-48342616	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.769_773delCAGAA; p.N258fs*11; 13:48362865-48362869	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Deletion - Frameshift
c.1215+1G>T; p.?; 13:48373493-48373493	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.2346delA; p.P783fs*27; 13:48465225-48465225	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.769_773delCAGAA; p.N258fs*11; 13:48362865-48362869	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.1215+1G>T; p.?; 13:48373493-48373493	lung	carcinoma; small_cell_carcinoma	Unknown
c.2325+1G>T; p.?; 13:48465112-48465112	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1318G>A; p.E440K; 13:48377020-48377020	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1318G>A; p.E440K; 13:48377020-48377020	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1318G>A; p.E440K; 13:48377020-48377020	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1318G>A; p.E440K; 13:48377020-48377020	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1318G>A; p.E440K; 13:48377020-48377020	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1318G>A; p.E440K; 13:48377020-48377020	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.939+1G>A; p.?; 13:48364972-48364972	breast	carcinoma	Unknown
c.676T>C; p.F226L; 13:48360085-48360085	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1318G>A; p.E440K; 13:48377020-48377020	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1318G>A; p.E440K; 13:48377020-48377020	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.265-1G>T; p.?; 13:48342598-48342598	lung	carcinoma; small_cell_carcinoma	Unknown
c.1030C>T; p.Q344*; 13:48367584-48367584	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1030C>T; p.Q344*; 13:48367584-48367584	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1216-1G>C; p.?; 13:48376917-48376917	ovary	carcinoma; serous_carcinoma	Unknown
c.1030C>T; p.Q344*; 13:48367584-48367584	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1030C>T; p.Q344*; 13:48367584-48367584	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.1030C>T; p.Q344*; 13:48367584-48367584	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.509A>G; p.E170G; 13:48347833-48347833	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1216-1G>C; p.?; 13:48376917-48376917	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.791C>T; p.A264V; 13:48362887-48362887	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.644C>G; p.S215*; 13:48360053-48360053	breast	carcinoma	Substitution - Nonsense
c.1351C>T; p.R451C; 13:48379612-48379612	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2169C>A; p.I723I; 13:48463793-48463793	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1351C>T; p.R451C; 13:48379612-48379612	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2169C>A; p.I723I; 13:48463793-48463793	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1255_1277>?; p.419fs*?; 13:48376957-48376979	haematopoietic_and_lymphoid_tissue; skin	lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome	Unknown
c.181T>A; p.C61S; 13:48307323-48307323	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1351C>T; p.R451C; 13:48379612-48379612	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.964G>A; p.E322K; 13:48367518-48367518	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.964G>A; p.E322K; 13:48367518-48367518	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.584G>A; p.W195*; 13:48349000-48349000	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1999G>T; p.E667*; 13:48459726-48459726	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2326-1G>A; p.?; 13:48465204-48465204	prostate	carcinoma	Unknown
c.1318G>T; p.E440*; 13:48377020-48377020	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.663T>A; p.C221*; 13:48360072-48360072	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.210_211insG; p.R71fs*39; 13:48307352-48307353	eye; retina	retinoblastoma	Insertion - Frameshift
c.1318G>T; p.E440*; 13:48377020-48377020	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1318G>T; p.E440*; 13:48377020-48377020	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Nonsense
c.2520+3_2520+6delGAGT; p.?; 13:48473393-48473396	eye; retina	retinoblastoma	Unknown
c.1977T>C; p.Y659Y; 13:48459704-48459704	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1332+1G>A; p.?; 13:48377035-48377035	urinary_tract; bladder	carcinoma	Unknown
c.1332+1G>A; p.?; 13:48377035-48377035	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Unknown
c.2489+2T>A; p.?; 13:48465370-48465370	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.2327C>G; p.P776R; 13:48465206-48465206	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2361A>G; p.R787R; 13:48465240-48465240	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1331A>T; p.Q444L; 13:48377033-48377033	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.380G>T; p.S127I; 13:48342714-48342714	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1862G>C; p.R621P; 13:48456251-48456251	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1954_1955insA; p.V654fs*14; 13:48456343-48456344	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.1346G>A; p.G449E; 13:48379607-48379607	skin	malignant_melanoma	Substitution - Missense
c.2389_2390insT; p.L797fs*18; 13:48465268-48465269	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.2117G>T; p.C706F; 13:48463741-48463741	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1494T>A; p.Y498*; 13:48380237-48380237	eye; retina	retinoblastoma	Substitution - Nonsense
c.1687T>C; p.W563R; 13:48381435-48381435	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2107-2A>G; p.?; 13:48463729-48463729	urinary_tract; bladder	carcinoma	Unknown
c.2117G>T; p.C706F; 13:48463741-48463741	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1836T>A; p.S612S; 13:48456225-48456225	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2107-2A>G; p.?; 13:48463729-48463729	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2117G>T; p.C706F; 13:48463741-48463741	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2107-2A>G; p.?; 13:48463729-48463729	urinary_tract; bladder	carcinoma	Unknown
c.1687T>C; p.W563R; 13:48381435-48381435	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.413T>G; p.I138S; 13:48345112-48345112	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1687T>C; p.W563R; 13:48381435-48381435	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2370C>A; p.Y790*; 13:48465249-48465249	oesophagus	carcinoma	Substitution - Nonsense
c.2233A>T; p.K745*; 13:48465019-48465019	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.233G>T; p.W78L; 13:48307375-48307375	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.380+2T>G; p.?; 13:48342716-48342716	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.683A>G; p.K228R; 13:48360092-48360092	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.1960G>C; p.V654L; 13:48456349-48456349	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1960G>C; p.V654L; 13:48456349-48456349	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2370C>A; p.Y790*; 13:48465249-48465249	haematopoietic_and_lymphoid_tissue; tonsil	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Nonsense
c.1166T>A; p.L389*; 13:48373443-48373443	eye; retina	retinoblastoma	Substitution - Nonsense
c.265-2A>G; p.?; 13:48342597-48342597	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.234G>A; p.W78*; 13:48307376-48307376	skin; trunk	malignant_melanoma	Substitution - Nonsense
c.1750G>T; p.D584Y; 13:48453047-48453047	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1954delA; p.V654fs*4; 13:48456343-48456343	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.234G>A; p.W78*; 13:48307376-48307376	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.2224_2226GTT>ATG; p.V742M; 13:48465010-48465012	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2063T>C; p.L688P; 13:48459790-48459790	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.336_340delGATGT; p.E112fs*6; 13:48342670-48342674	eye; retina	retinoblastoma	Deletion - Frameshift
c.2063T>C; p.L688P; 13:48459790-48459790	eye; retina	retinoblastoma	Substitution - Missense
c.380+10C>G; p.?; 13:48342724-48342724	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Unknown
c.1961-1delG; p.?; 13:48459687-48459687	lung	carcinoma; small_cell_carcinoma	Unknown
c.838G>T; p.E280*; 13:48362934-48362934	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.838G>T; p.E280*; 13:48362934-48362934	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Nonsense
c.1185A>G; p.Q395Q; 13:48373462-48373462	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1185A>G; p.Q395Q; 13:48373462-48373462	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1185A>G; p.Q395Q; 13:48373462-48373462	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2520+3GA>AT; p.?; 13:48473393-48473393	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.2356C>T; p.P786S; 13:48465235-48465235	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.838G>T; p.E280*; 13:48362934-48362934	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2356C>T; p.P786S; 13:48465235-48465235	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.390A>C; p.K130N; 13:48345089-48345089	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2142G>C; p.V714V; 13:48463766-48463766	breast	carcinoma	Substitution - coding silent
c.1650delA; p.E551fs*60; 13:48381398-48381398	breast	carcinoma	Deletion - Frameshift
c.2579A>G; p.K860R; 13:48476759-48476759	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.367A>T; p.N123Y; 13:48342701-48342701	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2054A>G; p.Q685R; 13:48459781-48459781	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2127T>A; p.Y709*; 13:48463751-48463751	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.210_211insAG; p.A74fs*4; 13:48307352-48307353	breast	carcinoma	Insertion - Frameshift
c.815G>T; p.R272I; 13:48362911-48362911	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2359C>A; p.R787R; 13:48465238-48465238	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2267A>G; p.Y756C; 13:48465053-48465053	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1498A>T; p.R500*; 13:48380241-48380241	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2267A>G; p.Y756C; 13:48465053-48465053	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2267A>G; p.Y756C; 13:48465053-48465053	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1961-1G>A; p.?; 13:48459687-48459687	eye; retina	retinoblastoma	Unknown
c.1648T>A; p.L550I; 13:48381396-48381396	breast	carcinoma	Substitution - Missense
c.2360G>A; p.R787Q; 13:48465239-48465239	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1192_1193GA>TT; p.E398L; 13:48373469-48373470	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1961-1G>A; p.?; 13:48459687-48459687	cervix	carcinoma	Unknown
c.622A>G; p.M208V; 13:48360031-48360031	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1961-1G>A; p.?; 13:48459687-48459687	eye; retina	retinoblastoma	Unknown
c.2360G>A; p.R787Q; 13:48465239-48465239	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.751C>T; p.R251*; 13:48362847-48362847	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.751C>T; p.R251*; 13:48362847-48362847	skin	malignant_melanoma	Substitution - Nonsense
c.751C>T; p.R251*; 13:48362847-48362847	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.2393G>T; p.R798L; 13:48465272-48465272	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2077G>T; p.E693*; 13:48459804-48459804	breast	carcinoma; lobular_carcinoma	Substitution - Nonsense
c.751C>T; p.R251*; 13:48362847-48362847	oesophagus	carcinoma	Substitution - Nonsense
c.2314G>T; p.A772S; 13:48465100-48465100	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.751C>T; p.R251*; 13:48362847-48362847	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.751C>T; p.R251*; 13:48362847-48362847	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.751C>T; p.R251*; 13:48362847-48362847	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1580_1581insT; p.Y529fs*26; 13:48381328-48381329	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.751C>T; p.R251*; 13:48362847-48362847	lung	carcinoma; mixed_small_cell_carcinoma-adenocarcinoma	Substitution - Nonsense
c.751C>T; p.R251*; 13:48362847-48362847	eye; retina	retinoblastoma	Substitution - Nonsense
c.751C>T; p.R251*; 13:48362847-48362847	eye; retina	retinoblastoma	Substitution - Nonsense
c.751C>T; p.R251*; 13:48362847-48362847	eye; retina	retinoblastoma	Substitution - Nonsense
c.751C>T; p.R251*; 13:48362847-48362847	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2077G>T; p.E693*; 13:48459804-48459804	breast	carcinoma; lobular_carcinoma	Substitution - Nonsense
c.1901C>G; p.S634*; 13:48456290-48456290	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2530A>T; p.K844*; 13:48476710-48476710	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2392C>T; p.R798W; 13:48465271-48465271	thyroid	carcinoma	Substitution - Missense
c.2392C>T; p.R798W; 13:48465271-48465271	ovary	carcinoma	Substitution - Missense
c.2310_2311insT; p.Y771fs*24; 13:48465096-48465097	eye; retina	retinoblastoma	Insertion - Frameshift
c.1901C>G; p.S634*; 13:48456290-48456290	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1695+2T>C; p.?; 13:48381445-48381445	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1901C>G; p.S634*; 13:48456290-48456290	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.410A>G; p.E137G; 13:48345109-48345109	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.380+3A>C; p.?; 13:48342717-48342717	eye; retina	retinoblastoma	Unknown
c.2479C>T; p.P827S; 13:48465358-48465358	thyroid	carcinoma	Substitution - Missense
c.1901C>G; p.S634*; 13:48456290-48456290	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.2520+6T>C; p.?; 13:48473396-48473396	ovary	other; neoplasm	Unknown
c.2490-7T>G; p.?; 13:48473353-48473353	pancreas	carcinoid-endocrine_tumour	Unknown
c.341C>A; p.S114*; 13:48342675-48342675	eye; retina	retinoblastoma	Substitution - Nonsense
c.1319delA; p.I441fs*16; 13:48377021-48377021	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.2212-1G>A; p.?; 13:48464997-48464997	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.982A>G; p.N328D; 13:48367536-48367536	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.773delA; p.N258fs*6; 13:48362869-48362869	prostate	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1438_1439insA; p.N480fs*13; 13:48380181-48380182	eye; retina	retinoblastoma	Insertion - Frameshift
c.982A>G; p.N328D; 13:48367536-48367536	large_intestine; rectum	NS	Substitution - Missense
c.2104C>T; p.Q702*; 13:48459831-48459831	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.2104C>T; p.Q702*; 13:48459831-48459831	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1633G>T; p.E545*; 13:48381381-48381381	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1667G>A; p.R556Q; 13:48381415-48381415	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1735C>A; p.R579R; 13:48453032-48453032	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1975T>C; p.Y659H; 13:48459702-48459702	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1633G>T; p.E545*; 13:48381381-48381381	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1303G>T; p.G435*; 13:48377005-48377005	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1303G>T; p.G435*; 13:48377005-48377005	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.1688G>A; p.W563*; 13:48381436-48381436	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1667G>A; p.R556Q; 13:48381415-48381415	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1975T>C; p.Y659H; 13:48459702-48459702	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.861+1G>A; p.?; 13:48362958-48362958	lung; right_lower_lobe	carcinoma; adenocarcinoma	Unknown
c.1620C>T; p.G540G; 13:48381368-48381368	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2133_2180del48; p.C712_A727del16; 13:48463757-48463804	lung	carcinoma; small_cell_carcinoma	Deletion - In frame
c.861+1G>A; p.?; 13:48362958-48362958	central_nervous_system; thalamus	glioma; astrocytoma_Grade_IV	Unknown
c.1261G>A; p.D421N; 13:48376963-48376963	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2422_2440del19; p.P808fs*12; 13:48465301-48465319	bone	osteosarcoma; osteoblastic	Deletion - Frameshift
c.1073G>A; p.R358Q; 13:48368550-48368550	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1190C>G; p.S397*; 13:48373467-48373467	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.401_404delTACT; p.L134fs*1; 13:48345100-48345103	eye; retina	retinoblastoma	Deletion - Frameshift
c.2104C>A; p.Q702K; 13:48459831-48459831	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.861+2T>A; p.?; 13:48362959-48362959	pancreas	carcinoma; small_cell_carcinoma	Unknown
c.2104C>A; p.Q702K; 13:48459831-48459831	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2184C>A; p.Y728*; 13:48463808-48463808	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.868_869insA; p.N290fs*20; 13:48364900-48364901	pancreas	carcinoma; large_cell_neuroendocrine_carcinoma	Insertion - Frameshift
c.1167A>T; p.L389F; 13:48373444-48373444	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1735C>T; p.R579*; 13:48453032-48453032	eye; retina	retinoblastoma	Substitution - Nonsense
c.1735C>T; p.R579*; 13:48453032-48453032	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.1735C>T; p.R579*; 13:48453032-48453032	eye; retina	retinoblastoma	Substitution - Nonsense
c.1735C>T; p.R579*; 13:48453032-48453032	skin	malignant_melanoma	Substitution - Nonsense
c.1735C>T; p.R579*; 13:48453032-48453032	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1735C>T; p.R579*; 13:48453032-48453032	skin	malignant_melanoma	Substitution - Nonsense
c.1027C>T; p.L343F; 13:48367581-48367581	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2092A>T; p.R698W; 13:48459819-48459819	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1735C>T; p.R579*; 13:48453032-48453032	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2043G>T; p.W681C; 13:48459770-48459770	pancreas	carcinoma	Substitution - Missense
c.1735C>T; p.R579*; 13:48453032-48453032	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1735C>T; p.R579*; 13:48453032-48453032	eye; retina	retinoblastoma	Substitution - Nonsense
c.1735C>T; p.R579*; 13:48453032-48453032	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1389+72G>T; p.?; 13:48379722-48379722	lung	carcinoma; adenocarcinoma	Unknown
c.2092A>T; p.R698W; 13:48459819-48459819	breast	carcinoma	Substitution - Missense
c.1735C>T; p.R579*; 13:48453032-48453032	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Nonsense
c.763C>T; p.R255*; 13:48362859-48362859	eye; retina	retinoblastoma	Substitution - Nonsense
c.297G>A; p.W99*; 13:48342631-48342631	skin; upper_leg	carcinoma; Merkel_cell_carcinoma	Substitution - Nonsense
c.1597G>T; p.E533*; 13:48381345-48381345	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.873T>C; p.V291V; 13:48364905-48364905	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.412A>G; p.I138V; 13:48345111-48345111	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2082C>T; p.L694L; 13:48459809-48459809	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.367A>G; p.N123D; 13:48342701-48342701	ovary	carcinoma	Substitution - Missense
c.2082C>T; p.L694L; 13:48459809-48459809	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.486C>G; p.F162L; 13:48345185-48345185	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.264+2T>C; p.?; 13:48307408-48307408	lung	carcinoma; adenocarcinoma	Unknown
c.1399C>T; p.R467*; 13:48380062-48380062	bone	osteosarcoma; osteoblastic	Substitution - Nonsense
c.1970T>C; p.L657P; 13:48459697-48459697	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1399C>T; p.R467*; 13:48380062-48380062	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.485T>C; p.F162S; 13:48345184-48345184	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1970T>C; p.L657P; 13:48459697-48459697	ovary	other; neoplasm	Substitution - Missense
c.2091C>G; p.D697E; 13:48459818-48459818	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1544C>T; p.P515L; 13:48381292-48381292	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1333-2A>G; p.?; 13:48379592-48379592	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1072C>T; p.R358*; 13:48368549-48368549	eye; retina	retinoblastoma	Substitution - Nonsense
c.1072C>T; p.R358*; 13:48368549-48368549	eye; retina	retinoblastoma	Substitution - Nonsense
c.1072C>T; p.R358*; 13:48368549-48368549	eye; retina	retinoblastoma	Substitution - Nonsense
c.1544C>T; p.P515L; 13:48381292-48381292	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1072C>T; p.R358*; 13:48368549-48368549	eye; retina	retinoblastoma	Substitution - Nonsense
c.1072C>T; p.R358*; 13:48368549-48368549	eye; retina	retinoblastoma	Substitution - Nonsense
c.1333-2A>G; p.?; 13:48379592-48379592	central_nervous_system; brain	glioma	Unknown
c.1544C>T; p.P515L; 13:48381292-48381292	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.188A>T; p.K63I; 13:48307330-48307330	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1072C>T; p.R358*; 13:48368549-48368549	eye; retina	retinoblastoma	Substitution - Nonsense
c.2107-1_2109delGATT; p.?; 13:48463730-48463733	liver	carcinoma	Unknown
c.1072C>T; p.R358*; 13:48368549-48368549	eye; retina	retinoblastoma	Substitution - Nonsense
c.1072C>T; p.R358*; 13:48368549-48368549	haematopoietic_and_lymphoid_tissue; skin	haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm	Substitution - Nonsense
c.2106+1G>A; p.?; 13:48459834-48459834	lung	carcinoma; small_cell_carcinoma	Unknown
c.1861C>T; p.R621C; 13:48456250-48456250	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2212-23delTTTTACAT; p.?; 13:48464975-48464982	central_nervous_system; brain	glioma; oligodendroglioma_Grade_II	Unknown
c.1861C>T; p.R621C; 13:48456250-48456250	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.296delG; p.G100fs*11; 13:48342630-48342630	oesophagus; lower_third	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1505delC; p.T502fs*17; 13:48381253-48381253	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Deletion - Frameshift
c.1345G>C; p.G449R; 13:48379606-48379606	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.258A>G; p.G86G; 13:48307400-48307400	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1421G>A; p.S474N; 13:48380084-48380084	eye; retina	retinoblastoma	Substitution - Missense
c.1537_1538delTC; p.S513fs*9; 13:48381285-48381286	prostate	carcinoma; adenocarcinoma	Deletion - Frameshift
c.245C>A; p.S82*; 13:48307387-48307387	lung	carcinoma; giant_cell_carcinoma	Substitution - Nonsense
c.1389+1G>T; p.?; 13:48379651-48379651	lung	carcinoma; small_cell_carcinoma	Unknown
c.42C>T; p.A14A; 13:48303954-48303954	eye; retina	retinoblastoma	Substitution - coding silent
c.1452_1453delGT; p.M484fs*8; 13:48380195-48380196	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.1418T>G; p.F473C; 13:48380081-48380081	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2331T>C; p.P777P; 13:48465210-48465210	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1820T>C; p.L607P; 13:48456209-48456209	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1421+2T>A; p.?; 13:48380086-48380086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.2084T>A; p.M695K; 13:48459811-48459811	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1820T>C; p.L607P; 13:48456209-48456209	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1689G>A; p.W563*; 13:48381437-48381437	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2293A>T; p.K765*; 13:48465079-48465079	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.1306C>T; p.Q436*; 13:48377008-48377008	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1493A>G; p.Y498C; 13:48380236-48380236	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1469C>T; p.A490V; 13:48380212-48380212	liver	carcinoma	Substitution - Missense
c.2502A>G; p.S834S; 13:48473372-48473372	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1469C>T; p.A490V; 13:48380212-48380212	liver	carcinoma	Substitution - Missense
c.2293A>T; p.K765*; 13:48465079-48465079	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2293A>T; p.K765*; 13:48465079-48465079	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1306C>T; p.Q436*; 13:48377008-48377008	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.2173_2174insTT; p.T726fs*1; 13:48463797-48463798	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1942T>A; p.S648T; 13:48456331-48456331	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2293A>T; p.K765*; 13:48465079-48465079	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.244T>C; p.S82P; 13:48307386-48307386	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.244T>C; p.S82P; 13:48307386-48307386	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.244T>C; p.S82P; 13:48307386-48307386	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.244T>C; p.S82P; 13:48307386-48307386	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2490_2520del31; p.I831fs*8; 13:48473360-48473390	lung	carcinoid-endocrine_tumour; atypical	Deletion - Frameshift
c.608-2A>T; p.?; 13:48360015-48360015	ovary	other; neoplasm	Unknown
c.1184A>G; p.Q395R; 13:48373461-48373461	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.244T>C; p.S82P; 13:48307386-48307386	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.244T>C; p.S82P; 13:48307386-48307386	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.540-1G>A; p.?; 13:48348955-48348955	skin	malignant_melanoma	Unknown
c.2257A>G; p.I753V; 13:48465043-48465043	lung	carcinoid-endocrine_tumour; atypical	Substitution - Missense
c.1001G>A; p.R334K; 13:48367555-48367555	breast	carcinoma	Substitution - Missense
c.1836T>C; p.S612S; 13:48456225-48456225	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.187A>T; p.K63*; 13:48307329-48307329	breast	other; fibroadenoma	Substitution - Nonsense
c.1836T>C; p.S612S; 13:48456225-48456225	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.256G>T; p.G86*; 13:48307398-48307398	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1819C>A; p.L607I; 13:48456208-48456208	breast	carcinoma	Substitution - Missense
c.862-5T>G; p.?; 13:48364889-48364889	eye; retina	retinoblastoma	Unknown
c.2328C>T; p.P776P; 13:48465207-48465207	skin	malignant_melanoma	Substitution - coding silent
c.370_371delAT; p.I124fs*6; 13:48342704-48342705	eye; retina	retinoblastoma	Deletion - Frameshift
c.1416_1417insAAA; p.N472_F473insK; 13:48380079-48380080	eye; retina	retinoblastoma	Insertion - In frame
c.1961-2A>C; p.?; 13:48459686-48459686	skin	malignant_melanoma	Unknown
c.370_371delAT; p.I124fs*6; 13:48342704-48342705	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1980_1983delCCGG; p.R661fs*1; 13:48459707-48459710	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.1814+2T>A; p.?; 13:48453113-48453113	lung; right_upper_lobe	carcinoma; adenocarcinoma	Unknown
c.1980_1983delCCGG; p.R661fs*1; 13:48459707-48459710	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.1980_1983delCCGG; p.R661fs*1; 13:48459707-48459710	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.2284C>T; p.Q762*; 13:48465070-48465070	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.227delT; p.L76fs*1; 13:48307369-48307369	eye; retina	retinoblastoma	Deletion - Frameshift
c.1499-1G>T; p.?; 13:48381246-48381246	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2228_2238del11; p.L743fs*1; 13:48465014-48465024	pancreas	carcinoma; large_cell_neuroendocrine_carcinoma	Deletion - Frameshift
c.1499-1G>T; p.?; 13:48381246-48381246	bone; tibia	osteosarcoma; chondroblastic	Unknown
c.1499-1G>T; p.?; 13:48381246-48381246	bone; tibia	osteosarcoma; chondroblastic	Unknown
c.1017_1039del23; p.D340fs*5; 13:48367571-48367593	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.265-2A>T; p.?; 13:48342597-48342597	lung	carcinoma; small_cell_carcinoma	Unknown
c.1499-1G>T; p.?; 13:48381246-48381246	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.287A>G; p.K96R; 13:48342621-48342621	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1909C>T; p.Q637*; 13:48456298-48456298	pancreas	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.2153A>G; p.D718G; 13:48463777-48463777	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.465delT; p.Y155fs*1; 13:48345164-48345164	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2153A>G; p.D718G; 13:48463777-48463777	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2406G>C; p.G802G; 13:48465285-48465285	breast	carcinoma	Substitution - coding silent
c.2153A>G; p.D718G; 13:48463777-48463777	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2153A>G; p.D718G; 13:48463777-48463777	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1833A>T; p.R611S; 13:48456222-48456222	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2160_2161insT; p.K722fs*29; 13:48463784-48463785	lung	carcinoma; small_cell_carcinoma	Insertion - Frameshift
c.2517C>A; p.F839L; 13:48473387-48473387	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.975T>G; p.Y325*; 13:48367529-48367529	eye; retina	retinoblastoma	Substitution - Nonsense
c.1695+1G>T; p.?; 13:48381444-48381444	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Unknown
c.1695+1G>T; p.?; 13:48381444-48381444	urinary_tract; bladder	carcinoma	Unknown
c.2023G>T; p.E675*; 13:48459750-48459750	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.224G>T; p.W75L; 13:48307366-48307366	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1695+1G>T; p.?; 13:48381444-48381444	urinary_tract; bladder	carcinoma	Unknown
c.617T>G; p.L206*; 13:48360026-48360026	breast	carcinoma	Substitution - Nonsense
c.1655G>T; p.R552L; 13:48381403-48381403	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1545A>G; p.P515P; 13:48381293-48381293	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2594G>T; p.G865V; 13:48476774-48476774	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2594G>T; p.G865V; 13:48476774-48476774	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2143A>T; p.K715*; 13:48463767-48463767	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2143A>T; p.K715*; 13:48463767-48463767	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2570G>A; p.R857H; 13:48476750-48476750	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1422-2A>T; p.?; 13:48380163-48380163	lung	carcinoma; small_cell_carcinoma	Unknown
c.2143A>T; p.K715*; 13:48463767-48463767	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.233G>A; p.W78*; 13:48307375-48307375	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1147C>A; p.Q383K; 13:48373424-48373424	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.765A>G; p.R255R; 13:48362861-48362861	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1982G>T; p.R661L; 13:48459709-48459709	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2026_2027insTAGAACA; p.I679fs*15; 13:48459753-48459754	breast	carcinoma	Insertion - Frameshift
c.484_485TT>C; p.F162fs*13; 13:48345183-48345184	eye; retina	retinoblastoma	Complex - frameshift
c.765A>G; p.R255R; 13:48362861-48362861	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1362C>G; p.Y454*; 13:48379623-48379623	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.2110A>G; p.M704V; 13:48463734-48463734	ovary	carcinoma	Substitution - Missense
c.1990A>G; p.T664A; 13:48459717-48459717	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1236delA; p.E413fs*4; 13:48376938-48376938	eye; retina	retinoblastoma	Deletion - Frameshift
c.341C>G; p.S114W; 13:48342675-48342675	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1072C>A; p.R358R; 13:48368549-48368549	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.644C>A; p.S215*; 13:48360053-48360053	breast	carcinoma	Substitution - Nonsense
c.377T>C; p.I126T; 13:48342711-48342711	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1915C>T; p.Q639*; 13:48456304-48456304	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1573G>A; p.A525T; 13:48381321-48381321	skin	malignant_melanoma	Substitution - Missense
c.246A>G; p.S82S; 13:48307388-48307388	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2252C>A; p.S751Y; 13:48465038-48465038	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1695+2T>A; p.?; 13:48381445-48381445	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2359C>T; p.R787*; 13:48465238-48465238	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.797delA; p.Q266fs*2; 13:48362893-48362893	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - Frameshift
c.2034_2035insTAGAACAT; p.I679fs*1; 13:48459761-48459762	eye; retina	retinoblastoma	Insertion - Frameshift
c.2359C>T; p.R787*; 13:48465238-48465238	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.2527G>T; p.E843*; 13:48476707-48476707	eye; retina	retinoblastoma	Substitution - Nonsense
c.2359C>T; p.R787*; 13:48465238-48465238	prostate	carcinoma	Substitution - Nonsense
c.2359C>T; p.R787*; 13:48465238-48465238	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1749_1750insAACT; p.D584fs*2; 13:48453046-48453047	eye; retina	retinoblastoma	Insertion - Frameshift
c.340T>C; p.S114P; 13:48342674-48342674	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.240A>C; p.K80N; 13:48307382-48307382	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1900T>C; p.S634P; 13:48456289-48456289	eye; retina	retinoblastoma	Substitution - Missense
c.1723C>T; p.Q575*; 13:48453020-48453020	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.1421+1G>A; p.?; 13:48380085-48380085	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1389+1G>C; p.?; 13:48379651-48379651	eye; retina	retinoblastoma	Unknown
c.1149_1150insA; p.Q384fs*11; 13:48373426-48373427	eye; retina	retinoblastoma	Insertion - Frameshift
c.211_212delAG; p.R73fs*36; 13:48307353-48307354	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1963_1964insTA; p.Y655fs*4; 13:48459690-48459691	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.1571_1578delAAGCCTTT; p.K524fs*28; 13:48381319-48381326	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.1421+2T>G; p.?; 13:48380086-48380086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1421+2T>G; p.?; 13:48380086-48380086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.2326-2A>G; p.?; 13:48465203-48465203	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1421+2T>G; p.?; 13:48380086-48380086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1421+2T>G; p.?; 13:48380086-48380086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.651G>A; p.Q217Q; 13:48360060-48360060	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1421+2T>G; p.?; 13:48380086-48380086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1421+2T>G; p.?; 13:48380086-48380086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.473T>C; p.L158S; 13:48345172-48345172	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1421+2T>G; p.?; 13:48380086-48380086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1328C>G; p.S443*; 13:48377030-48377030	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1421+2T>G; p.?; 13:48380086-48380086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1421+2T>G; p.?; 13:48380086-48380086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1421+2T>G; p.?; 13:48380086-48380086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1421+2T>G; p.?; 13:48380086-48380086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1927A>T; p.K643*; 13:48456316-48456316	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1421+2T>G; p.?; 13:48380086-48380086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1421+2T>G; p.?; 13:48380086-48380086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1421+2T>G; p.?; 13:48380086-48380086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1421+2T>G; p.?; 13:48380086-48380086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1421+2T>G; p.?; 13:48380086-48380086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1421+2T>G; p.?; 13:48380086-48380086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1960delG; p.V654fs*4; 13:48456349-48456349	breast	carcinoma; basal_(triple-negative)_carcinoma	Deletion - Frameshift
c.1421+2T>G; p.?; 13:48380086-48380086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1863T>C; p.R621R; 13:48456252-48456252	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.596T>G; p.L199*; 13:48349012-48349012	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.2763T>C; p.D921D; 13:48480047-48480047	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2393G>A; p.R798Q; 13:48465272-48465272	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1031_1043del13; p.D346fs*17; 13:48367585-48367597	NS	NS	Deletion - Frameshift
c.2393G>A; p.R798Q; 13:48465272-48465272	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1994T>G; p.L665R; 13:48459721-48459721	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2330delC; p.P777fs*33; 13:48465209-48465209	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.13A>T; p.T5S; 13:48303925-48303925	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.803_804delAA; p.N269fs*1; 13:48362899-48362900	pancreas	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.2330delC; p.P777fs*33; 13:48465209-48465209	prostate	carcinoma	Deletion - Frameshift
c.2144A>G; p.K715R; 13:48463768-48463768	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2687_2689delAAT; p.K896_F897>I; 13:48477378-48477380	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Complex - deletion inframe
c.443T>C; p.M148T; 13:48345142-48345142	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.381-2A>T; p.?; 13:48345078-48345078	lung	carcinoma; small_cell_carcinoma	Unknown
c.1817A>G; p.Y606C; 13:48456206-48456206	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.2171T>A; p.I724N; 13:48463795-48463795	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1668A>G; p.R556R; 13:48381416-48381416	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2171T>A; p.I724N; 13:48463795-48463795	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1499-1G>C; p.?; 13:48381246-48381246	liver	carcinoma	Unknown
c.2339C>A; p.S780*; 13:48465218-48465218	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2171T>A; p.I724N; 13:48463795-48463795	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.752G>T; p.R251L; 13:48362848-48362848	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2234A>T; p.K745I; 13:48465020-48465020	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1581delT; p.Y529fs*3; 13:48381329-48381329	liver	carcinoma	Deletion - Frameshift
c.1186C>T; p.P396S; 13:48373463-48373463	breast	carcinoma	Substitution - Missense
c.2113_2121delATGTGTTCC; p.C706_M708delCSM; 13:48463737-48463745	lung	carcinoma; small_cell_carcinoma	Deletion - In frame

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]