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 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 0.72.

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.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

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]