Entrez Gene

Basic Information
Gene ID	6598
Name	SMARCB1
Synonymous	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1;SMARCB1;SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Definition	BRG1-associated factor 47\|SNF5 homolog\|SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1\|SWI/SNF-related matrix-associated protein\|hSNF5\|integrase interactor 1 protein\|malignant rhabdoid tumor suppressor\|protein
Position	22q11.23\|22q11
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1130G>A; p.R377H; 22:23834152-23834152	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1130G>A; p.R377H; 22:23834152-23834152	small_intestine; ileum	carcinoma; adenocarcinoma	Substitution - Missense
c.1130G>A; p.R377H; 22:23834152-23834152	stomach	carcinoma; undifferentiated_adenocarcinoma	Substitution - Missense
c.1116G>A; p.T372T; 22:23833701-23833701	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - coding silent
c.1130G>A; p.R377H; 22:23834152-23834152	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1130G>A; p.R377H; 22:23834152-23834152	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1130G>A; p.R377H; 22:23834152-23834152	meninges	meningioma	Substitution - Missense
c.1130G>A; p.R377H; 22:23834152-23834152	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1130G>A; p.R377H; 22:23834152-23834152	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1116G>A; p.T372T; 22:23833701-23833701	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1130G>A; p.R377H; 22:23834152-23834152	meninges	meningioma	Substitution - Missense
c.1130G>A; p.R377H; 22:23834152-23834152	meninges	meningioma	Substitution - Missense
c.1130G>A; p.R377H; 22:23834152-23834152	meninges	meningioma	Substitution - Missense
c.1130G>A; p.R377H; 22:23834152-23834152	meninges	meningioma	Substitution - Missense
c.1130G>A; p.R377H; 22:23834152-23834152	bone; maxilla	other; ameloblastoma	Substitution - Missense
c.356_360delACCTC; p.Y119fs*1; 22:23793682-23793686	soft_tissue; striated_muscle	rhabdoid_tumour	Deletion - Frameshift
c.1158+26C>T; p.?; 22:23834206-23834206	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Unknown
c.896C>T; p.S299L; 22:23825325-23825325	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1021C>A; p.R341R; 22:23833606-23833606	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1110G>T; p.R370S; 22:23833695-23833695	urinary_tract; bladder	carcinoma	Substitution - Missense
c.298_299delCT; p.L100fs*5; 22:23793624-23793625	soft_tissue; fibrous_tissue_and_uncertain_o	epithelioid_sarcoma	Deletion - Frameshift
c.796_986del191; p.?; 22:23825225-23825415	central_nervous_system; posterior_fossa	atypical_teratoid-rhabdoid_tumour	Unknown
c.226A>G; p.T76A; 22:23791888-23791888	pancreas	carcinoma	Substitution - Missense
c.603A>G; p.R201R; 22:23803397-23803397	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.775G>A; p.D259N; 22:23816916-23816916	urinary_tract; bladder	carcinoma	Substitution - Missense
c.575A>G; p.D192G; 22:23803369-23803369	liver	carcinoma	Substitution - Missense
c.1117A>G; p.R373G; 22:23833702-23833702	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.919T>G; p.F307V; 22:23825348-23825348	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.575A>G; p.D192G; 22:23803369-23803369	liver	carcinoma	Substitution - Missense
c.145T>C; p.S49P; 22:23791807-23791807	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.145T>C; p.S49P; 22:23791807-23791807	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.243_244ins?; p.?fs; 22:23793569-23793570	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Insertion - Frameshift
c.842G>A; p.W281*; 22:23825271-23825271	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Nonsense
c.563C>T; p.P188L; 22:23803357-23803357	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.556_557insGAGGTGC; p.L186fs*27; 22:23803350-23803351	soft_tissue; striated_muscle	rhabdoid_tumour	Insertion - Frameshift
c.397C>A; p.P133T; 22:23800978-23800978	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.563C>T; p.P188L; 22:23803357-23803357	skin; arm	malignant_melanoma	Substitution - Missense
c.491_492insCCTT; p.P165fs*6; 22:23801072-23801073	central_nervous_system; fourth_ventricle	other; cribriform_neuroepithelial_tumour	Insertion - Frameshift
c.91G>A; p.E31K; 22:23787260-23787260	breast	carcinoma	Substitution - Missense
c.548C>T; p.P183L; 22:23803342-23803342	skin; arm	malignant_melanoma	Substitution - Missense
c.669_670delTG; p.C223fs*1; 22:23816810-23816811	soft_tissue; striated_muscle	rhabdoid_tumour	Deletion - Frameshift
c.696G>A; p.T232T; 22:23816837-23816837	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.65A>G; p.D22G; 22:23787234-23787234	skin; acral	malignant_melanoma	Substitution - Missense
c.855G>C; p.E285D; 22:23825284-23825284	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.869delC; p.P290fs*6; 22:23825298-23825298	soft_tissue; striated_muscle	rhabdoid_tumour	Deletion - Frameshift
c.144C>A; p.P48P; 22:23791806-23791806	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.843G>A; p.W281*; 22:23825272-23825272	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Nonsense
c.843G>A; p.W281*; 22:23825272-23825272	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.774_775ins13; p.D259fs*26; 22:23816915-23816916	soft_tissue; striated_muscle	rhabdoid_tumour	Insertion - Frameshift
c.189_196delAGTTGCAT; p.I63fs*5; 22:23791851-23791858	soft_tissue; striated_muscle	rhabdoid_tumour	Deletion - Frameshift
c.354delC; p.T118fs*25; 22:23793680-23793680	soft_tissue; striated_muscle	rhabdoid_tumour	Deletion - Frameshift
c.243C>G; p.Y81*; 22:23793569-23793569	bone; mandible	chondrosarcoma; conventional	Substitution - Nonsense
c.1051_1054delCCAC; p.P351fs*5; 22:23833636-23833639	soft_tissue; nerve_sheath	schwannoma	Deletion - Frameshift
c.783C>T; p.R261R; 22:23816924-23816924	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.851C>T; p.S284L; 22:23825280-23825280	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Missense
c.1141A>G; p.T381A; 22:23834163-23834163	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.711delC; p.I237fs*30; 22:23816852-23816852	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1125_1126insG; p.M375fs*12; 22:23834147-23834148	meninges	meningioma; transitional	Insertion - Frameshift
c.711delC; p.I237fs*30; 22:23816852-23816852	central_nervous_system; pineal_gland	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.432C>T; p.A144A; 22:23801013-23801013	skin	malignant_melanoma	Substitution - coding silent
c.325G>A; p.A109T; 22:23793651-23793651	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.564_565insGGTCCCC; p.I189fs*24; 22:23803358-23803359	central_nervous_system	atypical_teratoid-rhabdoid_tumour	Insertion - Frameshift
c.286_287insC; p.V96fs*10; 22:23793612-23793613	soft_tissue; striated_muscle	rhabdoid_tumour	Insertion - Frameshift
c.724A>G; p.R242G; 22:23816865-23816865	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1029delG; p.G344fs*13; 22:23833614-23833614	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.157delC; p.R53fs*2; 22:23791819-23791819	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Deletion - Frameshift
c.310G>A; p.D104N; 22:23793636-23793636	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.648G>T; p.E216D; 22:23816789-23816789	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.584_585insCGATGGG; p.I195fs*18; 22:23803378-23803379	central_nervous_system; spinal_cord	atypical_teratoid-rhabdoid_tumour	Insertion - Frameshift
c.252_253insA; p.L84fs*21; 22:23793578-23793579	central_nervous_system; spinal_cord	atypical_teratoid-rhabdoid_tumour	Insertion - Frameshift
c.118C>T; p.R40*; 22:23791780-23791780	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.118C>T; p.R40*; 22:23791780-23791780	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Nonsense
c.118C>T; p.R40*; 22:23791780-23791780	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.118C>T; p.R40*; 22:23791780-23791780	central_nervous_system	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.118C>T; p.R40*; 22:23791780-23791780	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.118C>T; p.R40*; 22:23791780-23791780	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Nonsense
c.118C>T; p.R40*; 22:23791780-23791780	central_nervous_system; pineal_gland	primitive_neuroectodermal_tumour-medulloblastoma; pineoblastoma	Substitution - Nonsense
c.118C>T; p.R40*; 22:23791780-23791780	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.118C>T; p.R40*; 22:23791780-23791780	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Nonsense
c.118C>T; p.R40*; 22:23791780-23791780	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Nonsense
c.118C>T; p.R40*; 22:23791780-23791780	central_nervous_system	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.118C>T; p.R40*; 22:23791780-23791780	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Nonsense
c.118C>T; p.R40*; 22:23791780-23791780	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.118C>T; p.R40*; 22:23791780-23791780	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.118C>T; p.R40*; 22:23791780-23791780	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Nonsense
c.511_512insC; p.H171fs*2; 22:23803305-23803306	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Insertion - Frameshift
c.825_838del14; p.D277fs*79; 22:23825254-23825267	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.647A>G; p.E216G; 22:23816788-23816788	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1022G>T; p.R341L; 22:23833607-23833607	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1129C>T; p.R377C; 22:23834151-23834151	central_nervous_system; brain	glioma	Substitution - Missense
c.1129C>T; p.R377C; 22:23834151-23834151	lung	carcinoid-endocrine_tumour; typical	Substitution - Missense
c.1143delG; p.A382fs*5; 22:23834165-23834165	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1143delG; p.A382fs*5; 22:23834165-23834165	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1143delG; p.A382fs*5; 22:23834165-23834165	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1143delG; p.A382fs*5; 22:23834165-23834165	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1143delG; p.A382fs*5; 22:23834165-23834165	central_nervous_system; posterior_fossa	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1143delG; p.A382fs*5; 22:23834165-23834165	central_nervous_system	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1143delG; p.A382fs*5; 22:23834165-23834165	central_nervous_system	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1143delG; p.A382fs*5; 22:23834165-23834165	central_nervous_system	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1143delG; p.A382fs*5; 22:23834165-23834165	central_nervous_system	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1143delG; p.A382fs*5; 22:23834165-23834165	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1143delG; p.A382fs*5; 22:23834165-23834165	central_nervous_system	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.778C>T; p.Q260*; 22:23816919-23816919	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.778C>T; p.Q260*; 22:23816919-23816919	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.778C>T; p.Q260*; 22:23816919-23816919	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Nonsense
c.847_848delAT; p.M283fs*77; 22:23825276-23825277	central_nervous_system	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.565_566ins13; p.I189fs*26; 22:23803359-23803360	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Insertion - Frameshift
c.565_566ins13; p.I189fs*26; 22:23803359-23803360	central_nervous_system	atypical_teratoid-rhabdoid_tumour	Insertion - Frameshift
c.425T>G; p.L142*; 22:23801006-23801006	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.246G>C; p.T82T; 22:23793572-23793572	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.549C>T; p.P183P; 22:23803343-23803343	skin; arm	malignant_melanoma	Substitution - coding silent
c.424T>C; p.L142L; 22:23801005-23801005	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.629-27G>A; p.?; 22:23816743-23816743	soft_tissue; striated_muscle	rhabdoid_tumour	Unknown
c.1145delC; p.P383fs*4; 22:23834167-23834167	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1145delC; p.P383fs*4; 22:23834167-23834167	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1145delC; p.P383fs*4; 22:23834167-23834167	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1145delC; p.P383fs*4; 22:23834167-23834167	central_nervous_system; posterior_fossa	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1145delC; p.P383fs*4; 22:23834167-23834167	central_nervous_system	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1145delC; p.P383fs*4; 22:23834167-23834167	central_nervous_system	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1145delC; p.P383fs*4; 22:23834167-23834167	soft_tissue; fibrous_tissue_and_uncertain_o	epithelioid_sarcoma	Deletion - Frameshift
c.174_175delAG; p.E58fs*12; 22:23791836-23791837	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1145delC; p.P383fs*4; 22:23834167-23834167	central_nervous_system	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1145delC; p.P383fs*4; 22:23834167-23834167	central_nervous_system	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1145delC; p.P383fs*4; 22:23834167-23834167	central_nervous_system	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1145delC; p.P383fs*4; 22:23834167-23834167	central_nervous_system	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1145delC; p.P383fs*4; 22:23834167-23834167	central_nervous_system	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.324_325insG; p.A109fs*61; 22:23793650-23793651	central_nervous_system	atypical_teratoid-rhabdoid_tumour	Insertion - Frameshift
c.864C>A; p.N288K; 22:23825293-23825293	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1051C>T; p.P351S; 22:23833636-23833636	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.978C>A; p.Y326*; 22:23825407-23825407	central_nervous_system; posterior_fossa	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.978C>A; p.Y326*; 22:23825407-23825407	central_nervous_system	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.641C>T; p.T214M; 22:23816782-23816782	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.978C>A; p.Y326*; 22:23825407-23825407	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.950delG; p.G317fs*3; 22:23825379-23825379	soft_tissue; striated_muscle	rhabdoid_tumour	Deletion - Frameshift
c.950delG; p.G317fs*3; 22:23825379-23825379	endometrium	carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour	Deletion - Frameshift
c.950delG; p.G317fs*3; 22:23825379-23825379	soft_tissue; striated_muscle	rhabdoid_tumour	Deletion - Frameshift
c.1130delG; p.R377fs*10; 22:23834152-23834152	central_nervous_system; choroid_plexus	other; choroid_plexus_carcinoma	Deletion - Frameshift
c.629_1158del530; p.?; 22:23816770-23834180	central_nervous_system	atypical_teratoid-rhabdoid_tumour	Unknown
c.961T>A; p.W321R; 22:23825390-23825390	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Missense
c.629_1158del530; p.?; 22:23816770-23834180	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Unknown
c.1124_1125insGAGGCGTC; p.M375fs*14; 22:23834146-23834147	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Insertion - Frameshift
c.691_692ins19; p.L231fs*56; 22:23816832-23816833	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Insertion - Frameshift
c.108_126del19; p.L36fs*13; 22:23791770-23791788	soft_tissue; striated_muscle	rhabdoid_tumour	Deletion - Frameshift
c.1096C>T; p.R366C; 22:23833681-23833681	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.119G>A; p.R40Q; 22:23791781-23791781	liver	carcinoma	Substitution - Missense
c.646G>T; p.E216*; 22:23816787-23816787	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Nonsense
c.1119-41G>A; p.?; 22:23834100-23834100	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Unknown
c.1119-41G>A; p.?; 22:23834100-23834100	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Unknown
c.1158+116insG; p.?; 22:23834296-23834297	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Unknown
c.1119-41G>A; p.?; 22:23834100-23834100	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Unknown
c.1158+116insG; p.?; 22:23834296-23834297	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Unknown
c.142C>T; p.P48S; 22:23791804-23791804	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Missense
c.646G>T; p.E216*; 22:23816787-23816787	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Nonsense
c.1158+116insG; p.?; 22:23834296-23834297	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; adult_T_cell_lymphoma-leukaemia	Unknown
c.646G>T; p.E216*; 22:23816787-23816787	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Nonsense
c.646G>T; p.E216*; 22:23816787-23816787	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Nonsense
c.646G>T; p.E216*; 22:23816787-23816787	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Nonsense
c.646G>T; p.E216*; 22:23816787-23816787	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Nonsense
c.346_346delC; p.T118fs*25; 22:23793672-23793672	soft_tissue; striated_muscle	rhabdoid_tumour	Deletion - Frameshift
c.138_139insTACC; p.R46fs*25; 22:23791800-23791801	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Insertion - Frameshift
c.473G>T; p.R158L; 22:23801054-23801054	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1148delC; p.P383fs; 22:23834170-23834170	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1148delC; p.P383fs; 22:23834170-23834170	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1148delC; p.P383fs; 22:23834170-23834170	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1148delC; p.P383fs; 22:23834170-23834170	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1148delC; p.P383fs; 22:23834170-23834170	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1148delC; p.P383fs; 22:23834170-23834170	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1148delC; p.P383fs; 22:23834170-23834170	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1148delC; p.P383fs; 22:23834170-23834170	soft_tissue; striated_muscle	rhabdoid_tumour	Deletion - Frameshift
c.1148delC; p.P383fs; 22:23834170-23834170	central_nervous_system; posterior_fossa	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1148delC; p.P383fs; 22:23834170-23834170	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1148delC; p.P383fs; 22:23834170-23834170	central_nervous_system	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1148delC; p.P383fs; 22:23834170-23834170	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1148delC; p.P383fs; 22:23834170-23834170	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1148delC; p.P383fs; 22:23834170-23834170	central_nervous_system; frontal_lobe	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1148delC; p.P383fs; 22:23834170-23834170	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.430delG; p.A144fs*32; 22:23801011-23801011	central_nervous_system; choroid_plexus	other; choroid_plexus_carcinoma	Deletion - Frameshift
c.70G>C; p.E24Q; 22:23787239-23787239	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.906G>A; p.G302G; 22:23825335-23825335	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - coding silent
c.237C>T; p.H79H; 22:23793563-23793563	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.237C>T; p.H79H; 22:23793563-23793563	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.237C>T; p.H79H; 22:23793563-23793563	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.237C>T; p.H79H; 22:23793563-23793563	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.537C>T; p.N179N; 22:23803331-23803331	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.537C>T; p.N179N; 22:23803331-23803331	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.537C>T; p.N179N; 22:23803331-23803331	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.727C>T; p.Q243*; 22:23816868-23816868	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.872A>C; p.E291A; 22:23825301-23825301	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.727C>T; p.Q243*; 22:23816868-23816868	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Nonsense
c.24G>C; p.K8N; 22:23787193-23787193	urinary_tract; bladder	carcinoma	Substitution - Missense
c.727C>T; p.Q243*; 22:23816868-23816868	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Nonsense
c.464G>A; p.R155H; 22:23801045-23801045	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.332delC; p.I112fs*31; 22:23793658-23793658	soft_tissue; striated_muscle	rhabdoid_tumour	Deletion - Frameshift
c.464G>A; p.R155H; 22:23801045-23801045	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.498T>C; p.L166L; 22:23801079-23801079	pancreas	carcinoma	Substitution - coding silent
c.916G>T; p.E306*; 22:23825345-23825345	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.12_13insATG; p.M4_A5insM; 22:23787181-23787182	soft_tissue; nerve_sheath	schwannoma	Insertion - In frame
c.629_795del167; p.E210fs*15; 22:23816770-23816936	soft_tissue; striated_muscle	rhabdoid_tumour	Deletion - Frameshift
c.629_986del358; p.?; 22:23816770-23825415	central_nervous_system	atypical_teratoid-rhabdoid_tumour	Unknown
c.569G>T; p.R190L; 22:23803363-23803363	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.822C>T; p.S274S; 22:23825251-23825251	skin	malignant_melanoma	Substitution - coding silent
c.628+13C>T; p.?; 22:23803435-23803435	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Unknown
c.118delC; p.R40fs*15; 22:23791780-23791780	central_nervous_system; sella_turcica	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.628+13C>T; p.?; 22:23803435-23803435	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Unknown
c.897G>A; p.S299S; 22:23825326-23825326	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - coding silent
c.897G>A; p.S299S; 22:23825326-23825326	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - coding silent
c.897G>A; p.S299S; 22:23825326-23825326	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - coding silent
c.897G>A; p.S299S; 22:23825326-23825326	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; adult_T_cell_lymphoma-leukaemia	Substitution - coding silent
c.897G>A; p.S299S; 22:23825326-23825326	thyroid	other; neoplasm	Substitution - coding silent
c.897G>A; p.S299S; 22:23825326-23825326	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.157C>T; p.R53*; 22:23791819-23791819	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.157C>T; p.R53*; 22:23791819-23791819	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Nonsense
c.157C>T; p.R53*; 22:23791819-23791819	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.157C>T; p.R53*; 22:23791819-23791819	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.1041delC; p.Q348fs*9; 22:23833626-23833626	meninges	meningioma	Deletion - Frameshift
c.157C>T; p.R53*; 22:23791819-23791819	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.157C>T; p.R53*; 22:23791819-23791819	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Nonsense
c.157C>T; p.R53*; 22:23791819-23791819	central_nervous_system	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.157C>T; p.R53*; 22:23791819-23791819	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Nonsense
c.157C>T; p.R53*; 22:23791819-23791819	central_nervous_system; posterior_fossa	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.157C>T; p.R53*; 22:23791819-23791819	central_nervous_system	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.157C>T; p.R53*; 22:23791819-23791819	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Nonsense
c.157C>T; p.R53*; 22:23791819-23791819	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.158G>T; p.R53L; 22:23791820-23791820	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.566_567ins19; p.L191fs*26; 22:23803360-23803361	soft_tissue; striated_muscle	rhabdoid_tumour	Insertion - Frameshift
c.885G>A; p.L295L; 22:23825314-23825314	skin	malignant_melanoma	Substitution - coding silent
c.566_567ins19; p.L191fs*26; 22:23803360-23803361	central_nervous_system; spinal_cord	atypical_teratoid-rhabdoid_tumour	Insertion - Frameshift
c.1158+145C>A; p.?; 22:23834325-23834325	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Unknown
c.351delC; p.P117fs*26; 22:23793677-23793677	soft_tissue; striated_muscle	rhabdoid_tumour	Deletion - Frameshift
c.934G>A; p.A312T; 22:23825363-23825363	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.934G>A; p.A312T; 22:23825363-23825363	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1120C>A; p.R374R; 22:23834142-23834142	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.158G>A; p.R53Q; 22:23791820-23791820	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1-65C>T; p.?; 22:23787105-23787105	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Unknown
c.158G>A; p.R53Q; 22:23791820-23791820	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1-405G>A; p.?; 22:23786765-23786765	soft_tissue; striated_muscle	rhabdoid_tumour	Unknown
c.602G>A; p.R201Q; 22:23803396-23803396	ovary	other; neoplasm	Substitution - Missense
c.1112A>G; p.N371S; 22:23833697-23833697	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.986+1G>T; p.?; 22:23825415-23825415	central_nervous_system; lateral_ventricle	other; cribriform_neuroepithelial_tumour	Unknown
c.1_628del628; p.?; 22:23787170-23803422	soft_tissue; striated_muscle	rhabdoid_tumour	Unknown
c.1_628del628; p.?; 22:23787170-23803422	soft_tissue; striated_muscle	rhabdoid_tumour	Unknown
c.755G>T; p.S252I; 22:23816896-23816896	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.778C>A; p.Q260K; 22:23816919-23816919	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.586_587ins17; p.D196fs*19; 22:23803380-23803381	central_nervous_system; spinal_cord	atypical_teratoid-rhabdoid_tumour	Insertion - Frameshift
c.324G>A; p.K108K; 22:23793650-23793650	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.617G>A; p.W206*; 22:23803411-23803411	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Nonsense
c.568C>T; p.R190W; 22:23803362-23803362	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.617G>A; p.W206*; 22:23803411-23803411	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Nonsense
c.836T>G; p.F279C; 22:23825265-23825265	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1120C>T; p.R374W; 22:23834142-23834142	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1120C>T; p.R374W; 22:23834142-23834142	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.841T>C; p.W281R; 22:23825270-23825270	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1158+1delC; p.?; 22:23834181-23834181	central_nervous_system; choroid_plexus	other; choroid_plexus_carcinoma	Unknown
c.501_628del128; p.?; 22:23803295-23803422	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Unknown
c.379A>G; p.R127G; 22:23800960-23800960	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.501-1G>C; p.?; 22:23803294-23803294	soft_tissue; striated_muscle	rhabdoid_tumour	Unknown
c.473G>A; p.R158Q; 22:23801054-23801054	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.473G>A; p.R158Q; 22:23801054-23801054	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.281C>T; p.S94L; 22:23793607-23793607	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1085_1087delAGA; p.K364delK; 22:23833670-23833672	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.1103A>G; p.Q368R; 22:23833688-23833688	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.424T>A; p.L142I; 22:23801005-23801005	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.233-1G>C; p.?; 22:23793558-23793558	central_nervous_system; choroid_plexus	other; choroid_plexus_carcinoma	Unknown
c.1-126A>C; p.?; 22:23787044-23787044	soft_tissue; striated_muscle	rhabdoid_tumour	Unknown
c.206G>A; p.G69D; 22:23791868-23791868	oesophagus	carcinoma	Substitution - Missense
c.378G>C; p.K126N; 22:23800959-23800959	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1144delG; p.A382fs*4; 22:23834166-23834166	central_nervous_system	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1144delG; p.A382fs*4; 22:23834166-23834166	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1144delG; p.A382fs*4; 22:23834166-23834166	central_nervous_system; midbrain	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1144delG; p.A382fs*4; 22:23834166-23834166	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.602G>T; p.R201L; 22:23803396-23803396	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.602G>T; p.R201L; 22:23803396-23803396	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.564_565insATCCGGC; p.P188fs*24; 22:23803358-23803359	soft_tissue; striated_muscle	rhabdoid_tumour	Insertion - Frameshift
c.202_203insG; p.H68fs*3; 22:23791864-23791865	soft_tissue; striated_muscle	rhabdoid_tumour	Insertion - Frameshift
c.146_147ins25; p.?fs; 22:23791808-23791809	soft_tissue; striated_muscle	rhabdoid_tumour	Insertion - Frameshift
c.606_607ins20; p.A203fs*13; 22:23803400-23803401	central_nervous_system; spinal_cord	atypical_teratoid-rhabdoid_tumour	Insertion - Frameshift
c.564_565ins14; p.I189fs*25; 22:23803358-23803359	central_nervous_system; posterior_fossa	atypical_teratoid-rhabdoid_tumour	Insertion - Frameshift
c.320A>G; p.Y107C; 22:23793646-23793646	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.197C>T; p.S66L; 22:23791859-23791859	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.320A>G; p.Y107C; 22:23793646-23793646	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.606C>T; p.D202D; 22:23803400-23803400	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.454A>G; p.N152D; 22:23801035-23801035	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.208delA; p.T72fs*13; 22:23791870-23791870	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.616T>C; p.W206R; 22:23803410-23803410	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.543_544delTC; p.S181fs*29; 22:23803337-23803338	soft_tissue; striated_muscle	rhabdomyosarcoma	Deletion - Frameshift
c.352_353insA; p.T118fs*52; 22:23793678-23793679	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Insertion - Frameshift
c.546_547insCATCTCAG; p.P183fs*29; 22:23803340-23803341	central_nervous_system; spinal_cord	atypical_teratoid-rhabdoid_tumour	Insertion - Frameshift
c.178_179delAG; p.R60fs*10; 22:23791840-23791841	soft_tissue; striated_muscle	rhabdoid_tumour	Deletion - Frameshift
c.569_570ins18; p.?; 22:23803363-23803364	central_nervous_system	atypical_teratoid-rhabdoid_tumour	Unknown
c.562C>T; p.P188S; 22:23803356-23803356	skin; arm	malignant_melanoma	Substitution - Missense
c.346C>A; p.P116T; 22:23793672-23793672	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.238G>A; p.G80R; 22:23793564-23793564	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1097G>C; p.R366P; 22:23833682-23833682	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1130G>T; p.R377L; 22:23834152-23834152	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.620A>G; p.N207S; 22:23803414-23803414	skin	malignant_melanoma	Substitution - Missense
c.781C>T; p.R261C; 22:23816922-23816922	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.781C>T; p.R261C; 22:23816922-23816922	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.146C>A; p.S49*; 22:23791808-23791808	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.979G>A; p.A327T; 22:23825408-23825408	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.146C>A; p.S49*; 22:23791808-23791808	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.153G>A; p.W51*; 22:23791815-23791815	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Nonsense
c.618G>A; p.W206*; 22:23803412-23803412	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.618G>A; p.W206*; 22:23803412-23803412	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.323_323delA; p.K108fs*35; 22:23793649-23793649	central_nervous_system	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.1119-38insA; p.?; 22:23834103-23834104	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Unknown
c.629-1G>A; p.?; 22:23816769-23816769	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Unknown
c.629-2A>G; p.?; 22:23816768-23816768	soft_tissue; striated_muscle	rhabdoid_tumour	Unknown
c.1117A>T; p.R373W; 22:23833702-23833702	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.141C>A; p.Y47*; 22:23791803-23791803	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Nonsense
c.517C>T; p.P173S; 22:23803311-23803311	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Missense
c.141C>A; p.Y47*; 22:23791803-23791803	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Nonsense
c.141C>A; p.Y47*; 22:23791803-23791803	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Nonsense
c.141C>A; p.Y47*; 22:23791803-23791803	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Nonsense
c.141C>A; p.Y47*; 22:23791803-23791803	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Nonsense
c.528_528delC; p.H177fs*32; 22:23803322-23803322	soft_tissue; fibrous_tissue_and_uncertain_o	epithelioid_sarcoma	Deletion - Frameshift
c.141C>A; p.Y47*; 22:23791803-23791803	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Nonsense
c.786C>A; p.V262V; 22:23816927-23816927	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1102C>A; p.Q368K; 22:23833687-23833687	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1102C>T; p.Q368*; 22:23833687-23833687	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.1102C>T; p.Q368*; 22:23833687-23833687	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.632A>G; p.K211R; 22:23816773-23816773	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.933_934insAT; p.A312fs*9; 22:23825362-23825363	central_nervous_system	atypical_teratoid-rhabdoid_tumour	Insertion - Frameshift
c.1121G>A; p.R374Q; 22:23834143-23834143	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1121G>A; p.R374Q; 22:23834143-23834143	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.553_579del27; p.V185_M193del; 22:23803347-23803373	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Deletion - In frame
c.1121G>A; p.R374Q; 22:23834143-23834143	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1121G>A; p.R374Q; 22:23834143-23834143	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Burkitt_lymphoma	Substitution - Missense
c.689C>T; p.P230L; 22:23816830-23816830	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Missense
c.446C>A; p.T149K; 22:23801027-23801027	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.744delC; p.T250fs*17; 22:23816885-23816885	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1029G>A; p.T343T; 22:23833614-23833614	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.606C>A; p.D202E; 22:23803400-23803400	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.177_178ins28; p.E59fs*20; 22:23791839-23791840	soft_tissue; striated_muscle	rhabdoid_tumour	Insertion - Frameshift
c.607G>A; p.A203T; 22:23803401-23803401	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.725G>A; p.R242K; 22:23816866-23816866	skin	malignant_melanoma	Substitution - Missense
c.725G>A; p.R242K; 22:23816866-23816866	skin	malignant_melanoma	Substitution - Missense
c.139_143delTACCC; p.Y47fs*22; 22:23791801-23791805	soft_tissue; striated_muscle	rhabdoid_tumour	Deletion - Frameshift
c.607G>A; p.A203T; 22:23803401-23803401	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.607G>A; p.A203T; 22:23803401-23803401	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.273delA; p.A93fs*50; 22:23793599-23793599	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified	Deletion - Frameshift
c.821C>T; p.S274F; 22:23825250-23825250	skin	malignant_melanoma	Substitution - Missense
c.796_1158del363; p.L266_*386del; 22:23825225-23834180	soft_tissue; fibrous_tissue_and_uncertain_o	myoepithelioma	Deletion - In frame
c.796_1158del363; p.L266_*386del; 22:23825225-23834180	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Deletion - In frame
c.86G>A; p.G29D; 22:23787255-23787255	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.988G>A; p.E330K; 22:23833573-23833573	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1147_1147delC; p.P383fs; 22:23834169-23834169	central_nervous_system; cerebellum	atypical_teratoid-rhabdoid_tumour	Deletion - Frameshift
c.132_133insTGTAC; p.K45fs*12; 22:23791794-23791795	central_nervous_system; spinal_cord	atypical_teratoid-rhabdoid_tumour	Insertion - Frameshift
c.425T>A; p.L142*; 22:23801006-23801006	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.838G>T; p.E280*; 22:23825267-23825267	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Nonsense
c.695C>T; p.T232M; 22:23816836-23816836	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.601C>T; p.R201*; 22:23803395-23803395	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.601C>T; p.R201*; 22:23803395-23803395	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Nonsense
c.472C>T; p.R158*; 22:23801053-23801053	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Nonsense
c.601C>T; p.R201*; 22:23803395-23803395	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.472C>T; p.R158*; 22:23801053-23801053	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Nonsense
c.472C>T; p.R158*; 22:23801053-23801053	central_nervous_system	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.986+57insAA; p.?; 22:23825472-23825473	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Unknown
c.986+57insAA; p.?; 22:23825472-23825473	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Unknown
c.986+57insAA; p.?; 22:23825472-23825473	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Unknown
c.601C>T; p.R201*; 22:23803395-23803395	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.197_198insA; p.S67fs*4; 22:23791859-23791860	soft_tissue; striated_muscle	rhabdoid_tumour	Insertion - Frameshift
c.601C>T; p.R201*; 22:23803395-23803395	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.472C>T; p.R158*; 22:23801053-23801053	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.601C>T; p.R201*; 22:23803395-23803395	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.601C>T; p.R201*; 22:23803395-23803395	central_nervous_system; choroid_plexus	other; choroid_plexus_carcinoma	Substitution - Nonsense
c.472C>T; p.R158*; 22:23801053-23801053	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Nonsense
c.601C>T; p.R201*; 22:23803395-23803395	central_nervous_system	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.472C>T; p.R158*; 22:23801053-23801053	central_nervous_system	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.601C>T; p.R201*; 22:23803395-23803395	central_nervous_system	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.601C>T; p.R201*; 22:23803395-23803395	central_nervous_system	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.601C>T; p.R201*; 22:23803395-23803395	central_nervous_system; supratentorial	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.472C>T; p.R158*; 22:23801053-23801053	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.601C>T; p.R201*; 22:23803395-23803395	central_nervous_system; choroid_plexus	other; choroid_plexus_carcinoma	Substitution - Nonsense
c.472C>T; p.R158*; 22:23801053-23801053	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.601C>T; p.R201*; 22:23803395-23803395	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.601C>T; p.R201*; 22:23803395-23803395	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.601C>T; p.R201*; 22:23803395-23803395	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.601C>T; p.R201*; 22:23803395-23803395	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.601C>T; p.R201*; 22:23803395-23803395	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.601C>T; p.R201*; 22:23803395-23803395	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Nonsense
c.472C>T; p.R158*; 22:23801053-23801053	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.472C>T; p.R158*; 22:23801053-23801053	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Nonsense
c.601C>T; p.R201*; 22:23803395-23803395	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.601C>T; p.R201*; 22:23803395-23803395	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Nonsense
c.472C>T; p.R158*; 22:23801053-23801053	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Nonsense
c.601C>T; p.R201*; 22:23803395-23803395	central_nervous_system; supratentorial	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.1126A>G; p.R376G; 22:23834148-23834148	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Burkitt_lymphoma	Substitution - Missense
c.796_986del191; p.?; 22:23825225-23825415	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Unknown
c.796_986del191; p.?; 22:23825225-23825415	soft_tissue; striated_muscle	rhabdoid_tumour	Unknown
c.115_117delTTC; p.F39delF; 22:23791777-23791779	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.769C>T; p.Q257*; 22:23816910-23816910	soft_tissue; fibrous_tissue_and_uncertain_o	epithelioid_sarcoma	Substitution - Nonsense
c.545delA; p.Q182fs*27; 22:23803339-23803339	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Deletion - Frameshift
c.363_628del266; p.?; 22:23800944-23803422	soft_tissue; striated_muscle	rhabdoid_tumour	Deletion - Frameshift
c.363_628del266; p.?; 22:23800944-23803422	soft_tissue; striated_muscle	rhabdoid_tumour	Deletion - Frameshift
c.363_628del266; p.?; 22:23800944-23803422	soft_tissue; striated_muscle	rhabdoid_tumour	Deletion - Frameshift
c.793A>T; p.K265*; 22:23816934-23816934	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.749_750insC; p.D251fs*30; 22:23816890-23816891	soft_tissue; striated_muscle	rhabdoid_tumour	Insertion - Frameshift
c.147_150delACTC; p.L50fs*4; 22:23791809-23791812	soft_tissue; striated_muscle	rhabdoid_tumour	Deletion - Frameshift
c.357C>T; p.Y119Y; 22:23793683-23793683	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.631A>T; p.K211*; 22:23816772-23816772	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Nonsense
c.550G>A; p.E184K; 22:23803344-23803344	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.585_586ins17; p.D196fs*19; 22:23803379-23803380	central_nervous_system	atypical_teratoid-rhabdoid_tumour	Insertion - Frameshift
c.385_398del14; p.S129fs*36; 22:23800966-23800979	bone; extraskeletal	chondrosarcoma; myxoid	Deletion - Frameshift
c.784G>A; p.V262I; 22:23816925-23816925	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.784G>A; p.V262I; 22:23816925-23816925	breast	carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]