Entrez Gene

Basic Information
Gene ID	6598
Name	SMARCB1
Synonymous	BAF47\|INI1\|RDT\|RTPS1\|SNF5\|SNF5L1\|Sfh1p\|Snr1\|hSNFS;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\|hSNF5\|integrase interactor 1 protein\|malignant rhabdoid tumor suppressor\|sucrose nonfermenting, yeast, homolog-like 1
Position	22q11.23\|22q11
Gene Type	protein-coding
Gene Mutation:	PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation

PCGP germline mutation [Top]
	There is no record for SMARCB1

PCGP somatic mutation [Top]
	There is no record for SMARCB1

Mutation (CDS; AA; Chr)	Site	Histology
COSMIC somatic mutation [Top]
c.346_346delC; p.T118fs*25; 22:22465859-22465859	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.847_848delAT; p.M283fs*77; 22:22497463-22497464	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.629_986del358; p.?; 22:22488957-22497602	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.556_557insGAGGTGC; p.L186fs*27; 22:22475537-22475538	soft_tissue; striated_muscle	rhabdoid_tumour
c.472C>T; p.R158*; 22:22473240-22473240	soft_tissue; striated_muscle	rhabdoid_tumour
c.1145delC; p.P383fs*4; 22:22506354-22506354	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.1143delG; p.A382fs*5; 22:22506352-22506352	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.1143delG; p.A382fs*5; 22:22506352-22506352	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.472C>T; p.R158*; 22:22473240-22473240	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.601C>T; p.R201*; 22:22475582-22475582	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.323_323delA; p.K108fs*35; 22:22465836-22465836	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.842G>A; p.W281*; 22:22497458-22497458	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_628del628; p.?; 22:22459357-22475609	soft_tissue; striated_muscle	rhabdoid_tumour
c.1143delG; p.A382fs*5; 22:22506352-22506352	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.566_567ins19; p.L191fs*26; 22:22475547-22475548	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.118C>T; p.R40*; 22:22463967-22463967	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1145delC; p.P383fs*4; 22:22506354-22506354	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.774_775ins13; p.D259fs*26; 22:22489102-22489103	soft_tissue; striated_muscle	rhabdoid_tumour
c.629_1158del530; p.?; 22:22488957-22506367	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.1145delC; p.P383fs*4; 22:22506354-22506354	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.1145delC; p.P383fs*4; 22:22506354-22506354	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.565_566ins13; p.I189fs*26; 22:22475546-22475547	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.565_566ins13; p.I189fs*26; 22:22475546-22475547	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.146_147ins25; p.?fs; 22:22463995-22463996	soft_tissue; striated_muscle	rhabdoid_tumour
c.617G>A; p.W206*; 22:22475598-22475598	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.501-1G>C; p.?; 22:22475481-22475481	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1145delC; p.P383fs*4; 22:22506354-22506354	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.1143delG; p.A382fs*5; 22:22506352-22506352	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.1145delC; p.P383fs*4; 22:22506354-22506354	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.472C>T; p.R158*; 22:22473240-22473240	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.472C>T; p.R158*; 22:22473240-22473240	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1145delC; p.P383fs*4; 22:22506354-22506354	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.1145delC; p.P383fs*4; 22:22506354-22506354	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.363_628del266; p.?; 22:22473131-22475609	soft_tissue; striated_muscle	rhabdoid_tumour
c.1143delG; p.A382fs*5; 22:22506352-22506352	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.157C>T; p.R53*; 22:22464006-22464006	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.601C>T; p.R201*; 22:22475582-22475582	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.1_628del628; p.?; 22:22459357-22475609	soft_tissue; striated_muscle	rhabdoid_tumour
c.363_628del266; p.?; 22:22473131-22475609	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.1145delC; p.P383fs*4; 22:22506354-22506354	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.118C>T; p.R40*; 22:22463967-22463967	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.157C>T; p.R53*; 22:22464006-22464006	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.778C>T; p.Q260*; 22:22489106-22489106	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.618G>A; p.W206*; 22:22475599-22475599	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.979G>A; p.A327T;	lung	carcinoma; squamous_cell_carcinoma
c.346C>A; p.P116T; 22:22465859-22465859	pancreas	carcinoma; ductal_carcinoma
c.950delG; p.G317fs*3; 22:22497566-22497566	endometrium	carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour
c.132_133insTGTAC; p.K45fs*12; 22:22463981-22463982	central_nervous_system; spinal_cord	atypical_teratoid-rhabdoid_tumour
c.606_607ins20; p.A203fs*13; 22:22475587-22475588	central_nervous_system; spinal_cord	atypical_teratoid-rhabdoid_tumour
c.118C>T; p.R40*; 22:22463967-22463967	soft_tissue; striated_muscle	rhabdoid_tumour
c.157C>T; p.R53*; 22:22464006-22464006	soft_tissue; striated_muscle	rhabdoid_tumour
c.157C>T; p.R53*; 22:22464006-22464006	central_nervous_system; posterior_fossa	atypical_teratoid-rhabdoid_tumour
c.157C>T; p.R53*; 22:22464006-22464006	soft_tissue; striated_muscle	rhabdoid_tumour
c.332delC; p.I112fs*31; 22:22465845-22465845	soft_tissue; striated_muscle	rhabdoid_tumour
c.564_565insGGTCCCC; p.I189fs*24; 22:22475545-22475546	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.564_565ins14; p.I189fs*25; 22:22475545-22475546	central_nervous_system; posterior_fossa	atypical_teratoid-rhabdoid_tumour
c.585_586ins17; p.D196fs*19; 22:22475566-22475567	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.711delC; p.I237fs*30; 22:22489039-22489039	central_nervous_system; pineal_gland	atypical_teratoid-rhabdoid_tumour
c.749_750insC; p.D251fs*30; 22:22489077-22489078	soft_tissue; striated_muscle	rhabdoid_tumour
c.978C>A; p.Y326*; 22:22497594-22497594	central_nervous_system; posterior_fossa	atypical_teratoid-rhabdoid_tumour
c.978C>A; p.Y326*; 22:22497594-22497594	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.1148delC; p.P383fs; 22:22506357-22506357	central_nervous_system; frontal_lobe	atypical_teratoid-rhabdoid_tumour
c.1148delC; p.P383fs; 22:22506357-22506357	central_nervous_system; posterior_fossa	atypical_teratoid-rhabdoid_tumour
c.1148delC; p.P383fs; 22:22506357-22506357	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	central_nervous_system; posterior_fossa	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	central_nervous_system; frontal_lobe	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	central_nervous_system; temporal_lobe	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.286_287insC; p.V96fs*10; 22:22465799-22465800	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.472C>T; p.R158*; 22:22473240-22473240	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.202_203insG; p.H68fs*3; 22:22464051-22464052	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	bone; extraskeletal	chondrosarcoma; myxoid
c.385_398del14; p.S129fs*36; 22:22473153-22473166	bone; extraskeletal	chondrosarcoma; myxoid
c.430delG; p.A144fs*32; 22:22473198-22473198	central_nervous_system; choroid_plexus	other; choroid_plexus_carcinoma
c.601C>T; p.R201*; 22:22475582-22475582	central_nervous_system; choroid_plexus	other; choroid_plexus_carcinoma
c.1130delG; p.R377fs*10; 22:22506339-22506339	central_nervous_system; choroid_plexus	other; choroid_plexus_carcinoma
c.243_244ins?; p.?fs; 22:22465756-22465757	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour
c.1_1158del1158; p.0?;	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour
c.1_1158del1158; p.0?;	soft_tissue; fibrous_tissue_and_uncertain_o	sarcoma
c.1143delG; p.A382fs*5; 22:22506352-22506352	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.601C>T; p.R201*; 22:22475582-22475582	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.711delC; p.I237fs*30; 22:22489039-22489039	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1143delG; p.A382fs*5; 22:22506352-22506352	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1143delG; p.A382fs*5; 22:22506352-22506352	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1143delG; p.A382fs*5; 22:22506352-22506352	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1143delG; p.A382fs*5; 22:22506352-22506352	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.118C>T; p.R40*; 22:22463967-22463967	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.601C>T; p.R201*; 22:22475582-22475582	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.546_547insCATCTCAG; p.P183fs*29; 22:22475527-22475528	central_nervous_system; spinal_cord	atypical_teratoid-rhabdoid_tumour
c.601C>T; p.R201*; 22:22475582-22475582	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.843G>A; p.W281*; 22:22497459-22497459	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.157C>T; p.R53*; 22:22464006-22464006	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.601C>T; p.R201*; 22:22475582-22475582	soft_tissue; striated_muscle	rhabdoid_tumour
c.356_360delACCTC; p.Y119fs*1; 22:22465869-22465873	soft_tissue; striated_muscle	rhabdoid_tumour
c.425T>G; p.L142*; 22:22473193-22473193	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.796_986del191; p.?; 22:22497412-22497602	soft_tissue; striated_muscle	rhabdoid_tumour
c.629_1158del530; p.?; 22:22488957-22506367	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.796_986del191; p.?; 22:22497412-22497602	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.986_987ins?; p.?;	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.628_629ins?; p.?;	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1145delC; p.P383fs*4; 22:22506354-22506354	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.796_1158del363; p.L266_*386del; 22:22497412-22506367	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	central_nervous_system; spinal_cord	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.769C>T; p.Q257*; 22:22489097-22489097	soft_tissue; fibrous_tissue_and_uncertain_o	epithelioid_sarcoma
c.1_1158del1158; p.0?;	soft_tissue; fibrous_tissue_and_uncertain_o	epithelioid_sarcoma
c.1_1158del1158; p.0?;	soft_tissue; fibrous_tissue_and_uncertain_o	epithelioid_sarcoma
c.298_299delCT; p.L100fs*5; 22:22465811-22465812	soft_tissue; fibrous_tissue_and_uncertain_o	epithelioid_sarcoma
c.1145delC; p.P383fs*4; 22:22506354-22506354	soft_tissue; fibrous_tissue_and_uncertain_o	epithelioid_sarcoma
c.1_1158del1158; p.0?;	soft_tissue; fibrous_tissue_and_uncertain_o	epithelioid_sarcoma
c.1_1158del1158; p.0?;	soft_tissue; fibrous_tissue_and_uncertain_o	epithelioid_sarcoma
c.1_1158del1158; p.0?;	soft_tissue; fibrous_tissue_and_uncertain_o	epithelioid_sarcoma
c.1_1158del1158; p.0?;	soft_tissue; fibrous_tissue_and_uncertain_o	epithelioid_sarcoma
c.1_1158del1158; p.0?;	soft_tissue; fibrous_tissue_and_uncertain_o	epithelioid_sarcoma
c.562C>T; p.P188S;	skin; arm	malignant_melanoma
c.548C>T; p.P183L;	skin; arm	malignant_melanoma
c.549C>T; p.P183P;	skin; arm	malignant_melanoma
c.563C>T; p.P188L;	skin; arm	malignant_melanoma
c.118C>T; p.R40*; 22:22463967-22463967	soft_tissue; striated_muscle	rhabdoid_tumour
c.1144delG; p.A382fs*4; 22:22506353-22506353	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.324_325insG; p.A109fs*61; 22:22465837-22465838	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.795+2T>ATGA; p.?;	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.601C>T; p.R201*; 22:22475582-22475582	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.157C>T; p.R53*; 22:22464006-22464006	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.569_570ins18; p.?; 22:22475550-22475551	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.933_934insAT; p.A312fs*9; 22:22497549-22497550	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.1148delC; p.P383fs; 22:22506357-22506357	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.157C>T; p.R53*; 22:22464006-22464006	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.118C>T; p.R40*; 22:22463967-22463967	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.1143delG; p.A382fs*5; 22:22506352-22506352	central_nervous_system; posterior_fossa	atypical_teratoid-rhabdoid_tumour
c.1145delC; p.P383fs*4; 22:22506354-22506354	central_nervous_system; posterior_fossa	atypical_teratoid-rhabdoid_tumour
c.601C>T; p.R201*; 22:22475582-22475582	central_nervous_system; supratentorial	atypical_teratoid-rhabdoid_tumour
c.601C>T; p.R201*; 22:22475582-22475582	central_nervous_system; supratentorial	atypical_teratoid-rhabdoid_tumour
c.566_567ins19; p.L191fs*26; 22:22475547-22475548	central_nervous_system; spinal_cord	atypical_teratoid-rhabdoid_tumour
c.796_986del191; p.?; 22:22497412-22497602	central_nervous_system; posterior_fossa	atypical_teratoid-rhabdoid_tumour
c.141C>A; p.Y47*; 22:22463990-22463990	soft_tissue; striated_muscle	rhabdoid_tumour
c.157C>T; p.R53*; 22:22464006-22464006	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_628del628; p.?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1147_1147delC; p.P383fs; 22:22506356-22506356	central_nervous_system; cerebellum	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; fibrous_tissue_and_uncertain_o	epithelioid_sarcoma
c.1_1158del1158; p.0?;	soft_tissue; fibrous_tissue_and_uncertain_o	epithelioid_sarcoma
c.1_1158del1158; p.0?;	soft_tissue; fibrous_tissue_and_uncertain_o	epithelioid_sarcoma
c.1_1158del1158; p.0?;	soft_tissue; fibrous_tissue_and_uncertain_o	epithelioid_sarcoma
c.1_1158del1158; p.0?;	soft_tissue; fibrous_tissue_and_uncertain_o	epithelioid_sarcoma
c.363-?_628+?del; p.?;	soft_tissue; fibrous_tissue_and_uncertain_o	epithelioid_sarcoma
c.629-?_1158+?del; p.?;	soft_tissue; fibrous_tissue_and_uncertain_o	epithelioid_sarcoma
c.1_1158del1158; p.0?;	soft_tissue; fibrous_tissue_and_uncertain_o	epithelioid_sarcoma
c.1_1158del1158; p.0?;	soft_tissue; fibrous_tissue_and_uncertain_o	epithelioid_sarcoma
c.1_1158del1158; p.0?;	soft_tissue; fibrous_tissue_and_uncertain_o	epithelioid_sarcoma
c.1_362del362; p.?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.243C>G; p.Y81*; 22:22465756-22465756	bone; mandible	chondrosarcoma; conventional
c.986+1G>T; p.?; 22:22497602-22497602	central_nervous_system; lateral_ventricle	other; cribriform_neuroepithelial_tumour
c.491_492insCCTT; p.P165fs*6; 22:22473259-22473260	central_nervous_system; fourth_ventricle	other; cribriform_neuroepithelial_tumour
c.934G>A; p.A312T;	large_intestine; colon	carcinoma; adenocarcinoma
c.1120C>T; p.R374W;	large_intestine; colon	carcinoma; adenocarcinoma
c.727C>T; p.Q243*; 22:22489055-22489055	large_intestine; colon	carcinoma; adenocarcinoma
c.1085_1087delAGA; p.K364delK;	large_intestine; colon	carcinoma; adenocarcinoma
c.118delC; p.R40fs*15; 22:22463967-22463967	central_nervous_system; sella_turcica	atypical_teratoid-rhabdoid_tumour
c.1144delG; p.A382fs*4; 22:22506353-22506353	central_nervous_system; midbrain	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1_986del986; p.?;	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.511_512insC; p.H171fs*2; 22:22475492-22475493	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.157C>T; p.R53*; 22:22464006-22464006	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.118C>T; p.R40*; 22:22463967-22463967	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.118C>T; p.R40*; 22:22463967-22463967	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.543_544delTC; p.S181fs*29; 22:22475524-22475525	soft_tissue; striated_muscle	rhabdomyosarcoma
c.108_126del19; p.L36fs*13; 22:22463957-22463975	soft_tissue; striated_muscle	rhabdoid_tumour
c.472C>T; p.R158*; 22:22473240-22473240	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.157C>T; p.R53*; 22:22464006-22464006	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.501_628del128; p.?; 22:22475482-22475609	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1_628del628; p.?;	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.825_838del14; p.D277fs*79; 22:22497441-22497454	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1121G>A; p.R374Q; 22:22506330-22506330	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Burkitt_lymphoma
c.602G>T; p.R201L;	liver	carcinoma; hepatocellular_carcinoma
c.602G>T; p.R201L;	liver	carcinoma; hepatocellular_carcinoma
c.725G>A; p.R242K; 22:22489053-22489053	skin	malignant_melanoma
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1117A>G; p.R373G;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.695C>T; p.T232M;	oesophagus; lower_third	carcinoma; adenocarcinoma
c.1121G>A; p.R374Q; 22:22506330-22506330	oesophagus	carcinoma; adenocarcinoma
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.864C>A; p.N288K;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdomyosarcoma
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.141C>A; p.Y47*; 22:22463990-22463990	soft_tissue; striated_muscle	rhabdoid_tumour
c.978C>A; p.Y326*; 22:22497594-22497594	lung	carcinoma; adenocarcinoma
c.246G>C; p.T82T;	lung	carcinoma; adenocarcinoma
c.1097G>C; p.R366P;	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma
c.1041delC; p.Q348fs*9;	meninges	meningioma
c.1130G>A; p.R377H; 22:22506339-22506339	meninges	meningioma
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.607G>A; p.A203T; 22:22475588-22475588	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia
c.575A>G; p.D192G;	liver	carcinoma
c.1-65C>T; p.?; 22:22459292-22459292	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1130G>A; p.R377H; 22:22506339-22506339	stomach	carcinoma; undifferentiated_adenocarcinoma
c.1130G>A; p.R377H; 22:22506339-22506339	meninges	meningioma
c.1130G>A; p.R377H; 22:22506339-22506339	meninges	meningioma
c.1130G>A; p.R377H; 22:22506339-22506339	meninges	meningioma
c.1130G>A; p.R377H; 22:22506339-22506339	meninges	meningioma
c.1158+1delC; p.?; 22:22506368-22506368	central_nervous_system; choroid_plexus	other; choroid_plexus_carcinoma
c.778C>T; p.Q260*; 22:22489106-22489106	soft_tissue; striated_muscle	rhabdoid_tumour
c.141C>A; p.Y47*; 22:22463990-22463990	soft_tissue; striated_muscle	rhabdoid_tumour
c.778C>T; p.Q260*; 22:22489106-22489106	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.472C>T; p.R158*; 22:22473240-22473240	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.601C>T; p.R201*; 22:22475582-22475582	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1148delC; p.P383fs; 22:22506357-22506357	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1148delC; p.P383fs; 22:22506357-22506357	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.618G>A; p.W206*; 22:22475599-22475599	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.138_139insTACC; p.R46fs*25; 22:22463987-22463988	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.727C>T; p.Q243*; 22:22489055-22489055	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.727C>T; p.Q243*; 22:22489055-22489055	soft_tissue; striated_muscle	rhabdoid_tumour
c.1102C>T; p.Q368*; 22:22505874-22505874	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1121G>A; p.R374Q; 22:22506330-22506330	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.897G>A; p.S299S; 22:22497513-22497513	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia
c.1119-41G>A; p.?; 22:22506287-22506287	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia
c.1119-38insA; p.?; 22:22506290-22506291	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia
c.1158+26C>T; p.?; 22:22506393-22506393	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia
c.1158+145C>A; p.?; 22:22506512-22506512	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia
c.986+57insAA; p.?; 22:22497659-22497660	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia
c.897G>A; p.S299S; 22:22497513-22497513	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma
c.986+57insAA; p.?; 22:22497659-22497660	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma
c.1119-41G>A; p.?; 22:22506287-22506287	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma
c.1158+116insG; p.?; 22:22506483-22506484	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma
c.897G>A; p.S299S; 22:22497513-22497513	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma
c.986+57insAA; p.?; 22:22497659-22497660	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma
c.1119-41G>A; p.?; 22:22506287-22506287	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma
c.1158+116insG; p.?; 22:22506483-22506484	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma
c.897G>A; p.S299S; 22:22497513-22497513	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; adult_T_cell_lymphoma-leukaemia
c.1158+116insG; p.?; 22:22506483-22506484	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; adult_T_cell_lymphoma-leukaemia
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.629-1G>A; p.?; 22:22488956-22488956	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.553_579del27; p.V185_M193del; 22:22475534-22475560	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1125_1126insG; p.M375fs*12; 22:22506334-22506335	meninges	meningioma; transitional
c.628+13C>T; p.?; 22:22475622-22475622	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma
c.628+13C>T; p.?; 22:22475622-22475622	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma
c.454A>G; p.N152D; 22:22473222-22473222	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1148delC; p.P383fs; 22:22506357-22506357	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.691_692ins19; p.L231fs*56; 22:22489019-22489020	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.174_175delAG; p.E58fs*12; 22:22464023-22464024	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1148delC; p.P383fs; 22:22506357-22506357	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1148delC; p.P383fs; 22:22506357-22506357	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.629_795del167; p.E210fs*15; 22:22488957-22489123	soft_tissue; striated_muscle	rhabdoid_tumour
c.601C>T; p.R201*; 22:22475582-22475582	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.646G>T; p.E216*; 22:22488974-22488974	soft_tissue; striated_muscle	rhabdoid_tumour
c.1148delC; p.P383fs; 22:22506357-22506357	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1148delC; p.P383fs; 22:22506357-22506357	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1148delC; p.P383fs; 22:22506357-22506357	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.916G>T; p.E306*; 22:22497532-22497532	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.601C>T; p.R201*; 22:22475582-22475582	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.146C>A; p.S49*; 22:22463995-22463995	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.869delC; p.P290fs*6; 22:22497485-22497485	soft_tissue; striated_muscle	rhabdoid_tumour
c.1144delG; p.A382fs*4; 22:22506353-22506353	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.472C>T; p.R158*; 22:22473240-22473240	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.793A>T; p.K265*; 22:22489121-22489121	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.252_253insA; p.L84fs*21; 22:22465765-22465766	central_nervous_system; spinal_cord	atypical_teratoid-rhabdoid_tumour
c.363_628del266; p.?; 22:22473131-22475609	soft_tissue; striated_muscle	rhabdoid_tumour
c.118C>T; p.R40*; 22:22463967-22463967	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.601C>T; p.R201*; 22:22475582-22475582	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1144delG; p.A382fs*4; 22:22506353-22506353	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1148delC; p.P383fs; 22:22506357-22506357	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.601C>T; p.R201*; 22:22475582-22475582	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1_1158del1158; p.0?;	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.601C>T; p.R201*; 22:22475582-22475582	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1124_1125insGAGGCGTC; p.M375fs*14; 22:22506333-22506334	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.584_585insCGATGGG; p.I195fs*18; 22:22475565-22475566	central_nervous_system; spinal_cord	atypical_teratoid-rhabdoid_tumour
c.352_353insA; p.T118fs*52; 22:22465865-22465866	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.139_143delTACCC; p.Y47fs*22; 22:22463988-22463992	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.118C>T; p.R40*; 22:22463967-22463967	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.646G>T; p.E216*; 22:22488974-22488974	soft_tissue; striated_muscle	rhabdoid_tumour
c.177_178ins28; p.E59fs*20; 22:22464026-22464027	soft_tissue; striated_muscle	rhabdoid_tumour
c.472C>T; p.R158*; 22:22473240-22473240	soft_tissue; striated_muscle	rhabdoid_tumour
c.843G>A; p.W281*; 22:22497459-22497459	soft_tissue; striated_muscle	rhabdoid_tumour
c.351delC; p.P117fs*26; 22:22465864-22465864	soft_tissue; striated_muscle	rhabdoid_tumour
c.189_196delAGTTGCAT; p.I63fs*5; 22:22464038-22464045	soft_tissue; striated_muscle	rhabdoid_tumour
c.141C>A; p.Y47*; 22:22463990-22463990	soft_tissue; striated_muscle	rhabdoid_tumour
c.118C>T; p.R40*; 22:22463967-22463967	central_nervous_system; pineal_gland	primitive_neuroectodermal_tumour-medulloblastoma; pineoblastoma
c.1148delC; p.P383fs; 22:22506357-22506357	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.1148delC; p.P383fs; 22:22506357-22506357	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour
c.141C>A; p.Y47*; 22:22463990-22463990	soft_tissue; striated_muscle	rhabdoid_tumour
c.950delG; p.G317fs*3; 22:22497566-22497566	soft_tissue; striated_muscle	rhabdoid_tumour
c.354delC; p.T118fs*25; 22:22465867-22465867	soft_tissue; striated_muscle	rhabdoid_tumour
c.669_670delTG; p.C223fs*1; 22:22488997-22488998	soft_tissue; striated_muscle	rhabdoid_tumour
c.631A>T; p.K211*; 22:22488959-22488959	soft_tissue; striated_muscle	rhabdoid_tumour
c.601C>T; p.R201*; 22:22475582-22475582	soft_tissue; striated_muscle	rhabdoid_tumour
c.838G>T; p.E280*; 22:22497454-22497454	soft_tissue; striated_muscle	rhabdoid_tumour
c.142C>T; p.P48S; 22:22463991-22463991	soft_tissue; striated_muscle	rhabdoid_tumour
c.851C>T; p.S284L; 22:22497467-22497467	soft_tissue; striated_muscle	rhabdoid_tumour
c.629-2A>G; p.?; 22:22488955-22488955	soft_tissue; striated_muscle	rhabdoid_tumour
c.601C>T; p.R201*; 22:22475582-22475582	soft_tissue; striated_muscle	rhabdoid_tumour
c.472C>T; p.R158*; 22:22473240-22473240	soft_tissue; striated_muscle	rhabdoid_tumour
c.564_565insATCCGGC; p.P188fs*24; 22:22475545-22475546	soft_tissue; striated_muscle	rhabdoid_tumour
c.118C>T; p.R40*; 22:22463967-22463967	central_nervous_system	atypical_teratoid-rhabdoid_tumour
c.617G>A; p.W206*; 22:22475598-22475598	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma
c.472C>T; p.R158*; 22:22473240-22473240	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma
c.141C>A; p.Y47*; 22:22463990-22463990	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma
c.379A>G; p.R127G; 22:22473147-22473147	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma
c.545delA; p.Q182fs*27; 22:22475526-22475526	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma
c.153G>A; p.W51*; 22:22464002-22464002	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma
c.233-1G>C; p.?; 22:22465745-22465745	central_nervous_system; choroid_plexus	other; choroid_plexus_carcinoma
c.601C>T; p.R201*; 22:22475582-22475582	central_nervous_system; choroid_plexus	other; choroid_plexus_carcinoma
c.1-405G>A; p.?; 22:22458952-22458952	soft_tissue; striated_muscle	rhabdoid_tumour
c.1-126A>C; p.?; 22:22459231-22459231	soft_tissue; striated_muscle	rhabdoid_tumour
c.197_198insA; p.S67fs*4; 22:22464046-22464047	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_628del628; p.?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.12_13insATG; p.M4_A5insM; 22:22459368-22459369	soft_tissue; nerve_sheath	schwannoma
c.1051_1054delCCAC; p.P351fs*5; 22:22505823-22505826	soft_tissue; nerve_sheath	schwannoma
c.70G>C; p.E24Q;	lung	carcinoma; adenocarcinoma
c.1103A>G; p.Q368R; 22:22505875-22505875	ovary	carcinoma; serous_carcinoma
c.1051C>T; p.P351S;	ovary	carcinoma; serous_carcinoma
c.784G>A; p.V262I; 22:22489112-22489112	ovary	carcinoma; serous_carcinoma
c.1116G>A; p.T372T; 22:22505888-22505888	ovary	carcinoma; serous_carcinoma
c.446C>A; p.T149K;	lung	carcinoma; squamous_cell_carcinoma
c.569G>T; p.R190L;	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.1029G>A; p.T343T;	endometrium	carcinoma; endometrioid_carcinoma
c.836T>G; p.F279C;	large_intestine; colon	carcinoma; adenocarcinoma
c.473G>T; p.R158L;	large_intestine; caecum	carcinoma; adenocarcinoma
c.158G>T; p.R53L;	large_intestine; colon	carcinoma; adenocarcinoma
c.603A>G; p.R201R;	large_intestine; colon	carcinoma; adenocarcinoma
c.696G>A; p.T232T;	large_intestine; colon	carcinoma; adenocarcinoma
c.310G>A; p.D104N;	large_intestine; colon	carcinoma; adenocarcinoma
c.237C>T; p.H79H;	large_intestine; caecum	carcinoma; adenocarcinoma
c.115_117delTTC; p.F39delF;	large_intestine; colon	carcinoma; adenocarcinoma
c.537C>T; p.N179N;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1102C>T; p.Q368*; 22:22505874-22505874	kidney	carcinoma; clear_cell_renal_cell_carcinoma
c.157C>T; p.R53*; 22:22464006-22464006	endometrium	carcinoma; endometrioid_carcinoma
c.755G>T; p.S252I;	endometrium	carcinoma; endometrioid_carcinoma
c.237C>T; p.H79H;	endometrium	carcinoma; endometrioid_carcinoma
c.425T>A; p.L142*;	large_intestine	carcinoma; adenocarcinoma
c.781C>T; p.R261C;	endometrium	carcinoma; endometrioid_carcinoma
c.197C>T; p.S66L;	large_intestine; caecum	carcinoma; adenocarcinoma
c.616T>C; p.W206R;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1021C>A; p.R341R;	large_intestine; colon	carcinoma; adenocarcinoma
c.281C>T; p.S94L;	endometrium	carcinoma; endometrioid_carcinoma
c.324G>A; p.K108K;	endometrium	carcinoma; endometrioid_carcinoma
c.378G>C; p.K126N;	endometrium	carcinoma; endometrioid_carcinoma
c.464G>A; p.R155H;	endometrium	carcinoma; endometrioid_carcinoma
c.606C>A; p.D202E;	prostate	carcinoma; adenocarcinoma
c.1112A>G; p.N371S;	kidney	carcinoma; clear_cell_renal_cell_carcinoma
c.424T>A; p.L142I;	kidney	carcinoma; clear_cell_renal_cell_carcinoma
c.424T>C; p.L142L;	large_intestine; colon	carcinoma; adenocarcinoma
c.145T>C; p.S49P;	large_intestine; colon	carcinoma; adenocarcinoma
c.872A>C; p.E291A;	large_intestine; colon	carcinoma; adenocarcinoma
c.158G>A; p.R53Q;	large_intestine; colon	carcinoma; adenocarcinoma
c.841T>C; p.W281R;	large_intestine; colon	carcinoma; adenocarcinoma
c.601C>T; p.R201*; 22:22475582-22475582	large_intestine; colon	carcinoma; adenocarcinoma
c.778C>A; p.Q260K;	large_intestine; colon	carcinoma; adenocarcinoma
c.648G>T; p.E216D;	large_intestine; caecum	carcinoma; adenocarcinoma
c.601C>T; p.R201*; 22:22475582-22475582	large_intestine; colon	carcinoma; adenocarcinoma
c.775G>A; p.D259N;	urinary_tract; bladder	carcinoma
c.1110G>T; p.R370S;	urinary_tract; bladder	carcinoma
c.724A>G; p.R242G;	large_intestine; colon	carcinoma; adenocarcinoma
c.606C>T; p.D202D;	large_intestine; colon	carcinoma; adenocarcinoma
c.1102C>A; p.Q368K;	large_intestine; rectum	carcinoma; adenocarcinoma
c.397C>A; p.P133T;	prostate	carcinoma; adenocarcinoma
c.607G>A; p.A203T; 22:22475588-22475588	large_intestine; colon	carcinoma; adenocarcinoma
c.144C>A; p.P48P;	large_intestine; colon	carcinoma; adenocarcinoma
c.647A>G; p.E216G;	large_intestine; colon	carcinoma; adenocarcinoma
c.632A>G; p.K211R;	large_intestine; colon	carcinoma; adenocarcinoma
c.896C>T; p.S299L;	large_intestine; caecum	carcinoma; adenocarcinoma
c.607G>A; p.A203T; 22:22475588-22475588	large_intestine; caecum	carcinoma; adenocarcinoma
c.145T>C; p.S49P;	large_intestine; colon	carcinoma; adenocarcinoma
c.1022G>T; p.R341L; 22:22505794-22505794	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.646G>T; p.E216*; 22:22488974-22488974	soft_tissue; striated_muscle	rhabdoid_tumour
c.629-27G>A; p.?; 22:22488930-22488930	soft_tissue; striated_muscle	rhabdoid_tumour
c.646G>T; p.E216*; 22:22488974-22488974	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.118C>T; p.R40*; 22:22463967-22463967	soft_tissue; striated_muscle	rhabdoid_tumour
c.118C>T; p.R40*; 22:22463967-22463967	soft_tissue; striated_muscle	rhabdoid_tumour
c.1116G>A; p.T372T; 22:22505888-22505888	soft_tissue; striated_muscle	rhabdoid_tumour
c.1_1158del1158; p.0?;	soft_tissue; striated_muscle	rhabdoid_tumour
c.950delG; p.G317fs*3; 22:22497566-22497566	soft_tissue; striated_muscle	rhabdoid_tumour
c.586_587ins17; p.D196fs*19; 22:22475567-22475568	central_nervous_system; spinal_cord	atypical_teratoid-rhabdoid_tumour
c.517C>T; p.P173S; 22:22475498-22475498	soft_tissue; striated_muscle	rhabdoid_tumour
c.65A>G; p.D22G;	skin; acral	malignant_melanoma
c.325G>A; p.A109T;	skin; face	carcinoma; squamous_cell_carcinoma
c.1029delG; p.G344fs*13;	kidney	carcinoma; clear_cell_renal_cell_carcinoma
c.550G>A; p.E184K;	kidney	carcinoma; clear_cell_renal_cell_carcinoma
c.1126A>G; p.R376G;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Burkitt_lymphoma

PCGP germline mutation [Top]

PCGP somatic mutation [Top]

COSMIC somatic mutation [Top]