CR2Cancer

Summary
Symbol	SMARCA4
Name	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
Aliases	hSNF2b; BRG1; SNF2-BETA; FLJ39786; SNF2-like 4; sucrose nonfermenting-like 4; mitotic growth and transcripti ......
Location	19p13.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Domain, Function and Classification > Gene Ontology > KEGG and Reactome Pathway

> Domain, Function and Classification

[ TOP ]

Domain

PF07533 BRK domain
PF00439 Bromodomain
PF00271 Helicase conserved C-terminal domain
PF07529 HSA
PF08880 QLQ
PF14619 Snf2-ATP coupling
PF00176 SNF2 family N-terminal domain

Function

Transcriptional coactivator cooperating with nuclear hormone receptors to potentiate transcriptional activation. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to post-mitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth. SMARCA4/BAF190A may promote neural stem cell self-renewal/proliferation by enhancing Notch-dependent proliferative signals, while concurrently making the neural stem cell insensitive to SHH-dependent differentiating cues (By similarity). Acts as a corepressor of ZEB1 to regulate E-cadherin transcription and is required for induction of epithelial-mesenchymal transition (EMT) by ZEB1.

Classification

Class	Modification	Substrate	Product	PubMed
Histone modification read	#	H3, H4	#	17582821

> Gene Ontology [ TOP ]
Biological Process	GO:0000082 G1/S transition of mitotic cell cycle GO:0001558 regulation of cell growth GO:0001654 eye development GO:0001678 cellular glucose homeostasis GO:0003407 neural retina development GO:0006333 chromatin assembly or disassembly GO:0006337 nucleosome disassembly GO:0006338 chromatin remodeling GO:0006356 regulation of transcription from RNA polymerase I promoter GO:0006360 transcription from RNA polymerase I promoter GO:0007067 mitotic nuclear division GO:0007068 negative regulation of transcription during mitosis GO:0007070 negative regulation of transcription from RNA polymerase II promoter during mitosis GO:0007346 regulation of mitotic cell cycle GO:0007423 sensory organ development GO:0009303 rRNA transcription GO:0009743 response to carbohydrate GO:0009746 response to hexose GO:0009749 response to glucose GO:0009755 hormone-mediated signaling pathway GO:0009756 carbohydrate mediated signaling GO:0009757 hexose mediated signaling GO:0010182 sugar mediated signaling pathway GO:0010255 glucose mediated signaling pathway GO:0010948 negative regulation of cell cycle process GO:0016049 cell growth GO:0016055 Wnt signaling pathway GO:0019058 viral life cycle GO:0019080 viral gene expression GO:0019083 viral transcription GO:0030111 regulation of Wnt signaling pathway GO:0030177 positive regulation of Wnt signaling pathway GO:0030308 negative regulation of cell growth GO:0030518 intracellular steroid hormone receptor signaling pathway GO:0030521 androgen receptor signaling pathway GO:0030522 intracellular receptor signaling pathway GO:0031498 chromatin disassembly GO:0032844 regulation of homeostatic process GO:0032846 positive regulation of homeostatic process GO:0032984 macromolecular complex disassembly GO:0032986 protein-DNA complex disassembly GO:0033143 regulation of intracellular steroid hormone receptor signaling pathway GO:0033144 negative regulation of intracellular steroid hormone receptor signaling pathway GO:0033500 carbohydrate homeostasis GO:0034284 response to monosaccharide GO:0034728 nucleosome organization GO:0035821 modification of morphology or physiology of other organism GO:0042593 glucose homeostasis GO:0042790 transcription of nuclear large rRNA transcript from RNA polymerase I promoter GO:0043010 camera-type eye development GO:0043044 ATP-dependent chromatin remodeling GO:0043241 protein complex disassembly GO:0043401 steroid hormone mediated signaling pathway GO:0043900 regulation of multi-organism process GO:0043902 positive regulation of multi-organism process GO:0043903 regulation of symbiosis, encompassing mutualism through parasitism GO:0043921 modulation by host of viral transcription GO:0043923 positive regulation by host of viral transcription GO:0044033 multi-organism metabolic process GO:0044770 cell cycle phase transition GO:0044772 mitotic cell cycle phase transition GO:0044843 cell cycle G1/S phase transition GO:0045786 negative regulation of cell cycle GO:0045896 regulation of transcription during mitosis GO:0045926 negative regulation of growth GO:0045930 negative regulation of mitotic cell cycle GO:0045943 positive regulation of transcription from RNA polymerase I promoter GO:0046021 regulation of transcription from RNA polymerase II promoter, mitotic GO:0046782 regulation of viral transcription GO:0048524 positive regulation of viral process GO:0048545 response to steroid hormone GO:0050434 positive regulation of viral transcription GO:0050792 regulation of viral process GO:0051090 regulation of sequence-specific DNA binding transcription factor activity GO:0051091 positive regulation of sequence-specific DNA binding transcription factor activity GO:0051702 interaction with symbiont GO:0051817 modification of morphology or physiology of other organism involved in symbiotic interaction GO:0051851 modification by host of symbiont morphology or physiology GO:0052312 modulation of transcription in other organism involved in symbiotic interaction GO:0052472 modulation by host of symbiont transcription GO:0060041 retina development in camera-type eye GO:0060765 regulation of androgen receptor signaling pathway GO:0060766 negative regulation of androgen receptor signaling pathway GO:0061614 pri-miRNA transcription from RNA polymerase II promoter GO:0071322 cellular response to carbohydrate stimulus GO:0071326 cellular response to monosaccharide stimulus GO:0071331 cellular response to hexose stimulus GO:0071333 cellular response to glucose stimulus GO:0071383 cellular response to steroid hormone stimulus GO:0071396 cellular response to lipid GO:0071407 cellular response to organic cyclic compound GO:0071824 protein-DNA complex subunit organization GO:0098781 ncRNA transcription GO:0198738 cell-cell signaling by wnt GO:1901836 regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter GO:1901838 positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter GO:1901987 regulation of cell cycle phase transition GO:1901988 negative regulation of cell cycle phase transition GO:1901990 regulation of mitotic cell cycle phase transition GO:1901991 negative regulation of mitotic cell cycle phase transition GO:1902659 regulation of glucose mediated signaling pathway GO:1902661 positive regulation of glucose mediated signaling pathway GO:1902806 regulation of cell cycle G1/S phase transition GO:1902807 negative regulation of cell cycle G1/S phase transition GO:1902893 regulation of pri-miRNA transcription from RNA polymerase II promoter GO:1902895 positive regulation of pri-miRNA transcription from RNA polymerase II promoter GO:1903900 regulation of viral life cycle GO:1903902 positive regulation of viral life cycle GO:1904837 beta-catenin-TCF complex assembly GO:2000045 regulation of G1/S transition of mitotic cell cycle GO:2000134 negative regulation of G1/S transition of mitotic cell cycle
Molecular Function	GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000987 core promoter proximal region sequence-specific DNA binding GO:0001013 RNA polymerase I regulatory region DNA binding GO:0001046 core promoter sequence-specific DNA binding GO:0001047 core promoter binding GO:0001076 transcription factor activity, RNA polymerase II transcription factor binding GO:0001104 RNA polymerase II transcription cofactor activity GO:0001105 RNA polymerase II transcription coactivator activity GO:0001158 enhancer sequence-specific DNA binding GO:0001159 core promoter proximal region DNA binding GO:0001163 RNA polymerase I regulatory region sequence-specific DNA binding GO:0001164 RNA polymerase I CORE element sequence-specific DNA binding GO:0001190 transcriptional activator activity, RNA polymerase II transcription factor binding GO:0001191 transcriptional repressor activity, RNA polymerase II transcription factor binding GO:0002039 p53 binding GO:0003682 chromatin binding GO:0003713 transcription coactivator activity GO:0003714 transcription corepressor activity GO:0004386 helicase activity GO:0008094 DNA-dependent ATPase activity GO:0008134 transcription factor binding GO:0016887 ATPase activity GO:0030957 Tat protein binding GO:0031490 chromatin DNA binding GO:0031491 nucleosome binding GO:0031492 nucleosomal DNA binding GO:0035257 nuclear hormone receptor binding GO:0035258 steroid hormone receptor binding GO:0035326 enhancer binding GO:0042393 histone binding GO:0042623 ATPase activity, coupled GO:0043566 structure-specific DNA binding GO:0047485 protein N-terminus binding GO:0050681 androgen receptor binding GO:0051427 hormone receptor binding GO:0070182 DNA polymerase binding GO:0070577 lysine-acetylated histone binding GO:0098811 transcriptional repressor activity, RNA polymerase II activating transcription factor binding
Cellular Component	GO:0000785 chromatin GO:0000790 nuclear chromatin GO:0016514 SWI/SNF complex GO:0044454 nuclear chromosome part GO:0070603 SWI/SNF superfamily-type complex GO:0071564 npBAF complex GO:0071565 nBAF complex GO:0090544 BAF-type complex

> KEGG and Reactome Pathway [ TOP ]
KEGG	-
Reactome	R-HSA-3247509: Chromatin modifying enzymes R-HSA-4839726: Chromatin organization R-HSA-1280215: Cytokine Signaling in Immune system R-HSA-201722: Formation of the beta-catenin R-HSA-168256: Immune System R-HSA-1266695: Interleukin-7 signaling R-HSA-3214858: RMTs methylate histone arginines R-HSA-162582: Signal Transduction R-HSA-449147: Signaling by Interleukins R-HSA-195721: Signaling by Wnt R-HSA-201681: TCF dependent signaling in response to WNT

> KEGG and Reactome Pathway

[ TOP ]

KEGG

Reactome

R-HSA-3247509: Chromatin modifying enzymes
R-HSA-4839726: Chromatin organization
R-HSA-1280215: Cytokine Signaling in Immune system
R-HSA-201722: Formation of the beta-catenin
R-HSA-168256: Immune System
R-HSA-1266695: Interleukin-7 signaling
R-HSA-3214858: RMTs methylate histone arginines
R-HSA-162582: Signal Transduction
R-HSA-449147: Signaling by Interleukins
R-HSA-195721: Signaling by Wnt
R-HSA-201681: TCF dependent signaling in response to WNT

Summary
Symbol	SMARCA4
Name	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
Aliases	hSNF2b; BRG1; SNF2-BETA; FLJ39786; SNF2-like 4; sucrose nonfermenting-like 4; mitotic growth and transcripti ......
Location	19p13.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Mutation landscape in primary tumor tissue from TCGA > Mutation landscape in cancer cell line from CCLE > All mutations from COSMIC database V81 > Variations from text mining

> The Cancer Genome Atlas (TCGA) [ TOP ]

> Cancer Cell Line Encyclopedia (CCLE) [ TOP ]

> Catalogue of Somatic Mutations in Cancer (COSMIC)

[ TOP ]

COSMIC ID	CDS change	AA change	Mutation Type	Anatomical Site
COSM1235811	c.416C>T	p.P139L	Substitution - Missense	Oesophagus
COSM2813717	c.3357C>T	p.R1119R	Substitution - coding silent	Large_intestine
COSM5651830	c.769G>T	p.G257W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3712779	c.223-1G>T	p.?	Unknown	Upper_aerodigestive_tract
COSM5470877	c.2860-2A>G	p.?	Unknown	Large_intestine
COSM4074060	c.4023C>T	p.D1341D	Substitution - coding silent	Stomach
COSM53190	c.1756A>T	p.K586*	Substitution - Nonsense	Lung
COSM1611524	c.1666C>T	p.Q556*	Substitution - Nonsense	Liver
COSM1390277	c.3811T>C	p.F1271L	Substitution - Missense	Large_intestine
COSM3733394	c.4267A>G	p.T1423A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM255311	c.3304T>C	p.F1102L	Substitution - Missense	Central_nervous_system
COSM4497315	c.4852C>T	p.R1618*	Substitution - Nonsense	Skin
COSM990751	c.3005C>T	p.A1002V	Substitution - Missense	Stomach
COSM3362636	c.1599A>C	p.E533D	Substitution - Missense	Kidney
COSM1303980	c.4177G>A	p.E1393K	Substitution - Missense	Urinary_tract
COSM4749939	c.3257A>G	p.D1086G	Substitution - Missense	Stomach
COSM5777914	c.3237G>T	p.S1079S	Substitution - coding silent	Breast
COSM3724490	c.2506G>T	p.G836*	Substitution - Nonsense	Ovary
COSM1390283	c.4067G>A	p.R1356Q	Substitution - Missense	Large_intestine
COSM3528431	c.3538C>T	p.P1180S	Substitution - Missense	Skin
COSM4074028	c.1803G>A	p.P601P	Substitution - coding silent	Bone
COSM4991208	c.224C>T	p.P75L	Substitution - Missense	Skin
COSM5755240	c.4009C>G	p.L1337V	Substitution - Missense	Large_intestine
COSM4767461	c.3633G>A	p.E1211E	Substitution - coding silent	Biliary_tract
COSM4604356	c.1466A>G	p.Y489C	Substitution - Missense	Upper_aerodigestive_tract
COSM368689	c.3546+1G>T	p.?	Unknown	Ovary
COSM84491	c.4636-1G>C	p.?	Unknown	Pancreas
COSM5065142	c.1662_1662delG	p.L554fs*59	Deletion - Frameshift	Kidney
COSM4991214	c.476C>T	p.P159L	Substitution - Missense	Skin
COSM3970684	c.1018G>A	p.A340T	Substitution - Missense	Central_nervous_system
COSM4425185	c.1207G>A	p.E403K	Substitution - Missense	Oesophagus
COSM3528441	c.4383G>C	p.K1461N	Substitution - Missense	Skin
COSM4991224	c.2536C>T	p.P846S	Substitution - Missense	Skin
COSM990747	c.2578T>C	p.Y860H	Substitution - Missense	Endometrium
COSM1303969	c.98G>A	p.G33D	Substitution - Missense	Urinary_tract
COSM30589	c.3254_3270del17	p.L1085fs*32	Deletion - Frameshift	Lung
COSM1226759	c.3293A>G	p.K1098R	Substitution - Missense	Large_intestine
COSM4749944	c.3487C>G	p.L1163V	Substitution - Missense	Stomach
COSM1266238	c.3575G>A	p.R1192H	Substitution - Missense	Large_intestine
COSM405189	c.3475delG	p.L1161fs*3	Deletion - Frameshift	Lung
COSM4389777	c.666A>C	p.P222P	Substitution - coding silent	Pancreas
COSM4767762	c.3610C>T	p.L1204F	Substitution - Missense	Biliary_tract
COSM990738	c.1683G>T	p.V561V	Substitution - coding silent	Endometrium
COSM3959511	c.4343C>T	p.A1448V	Substitution - Missense	Lung
COSM292463	c.1216G>A	p.A406T	Substitution - Missense	Large_intestine
COSM4074046	c.2987T>G	p.I996S	Substitution - Missense	Stomach
COSM215749	c.2461G>A	p.E821K	Substitution - Missense	Urinary_tract
COSM1711829	c.2620C>T	p.R874C	Substitution - Missense	Central_nervous_system
COSM2813495	c.500G>A	p.R167Q	Substitution - Missense	Meninges
COSM4386688	c.?	p.R849W	Substitution - Missense	Large_intestine
COSM5364689	c.995delC	p.Q335fs*76	Deletion - Frameshift	Large_intestine
COSM88025	c.2729C>T	p.T910M	Substitution - Missense	Central_nervous_system
COSM3733331	c.2897G>A	p.R966Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5606074	c.3065C>T	p.S1022F	Substitution - Missense	Skin
COSM126317	c.3566G>A	p.R1189Q	Substitution - Missense	Upper_aerodigestive_tract
COSM215749	c.2461G>A	p.E821K	Substitution - Missense	Central_nervous_system
COSM3821898	c.2900G>A	p.R967H	Substitution - Missense	Breast
COSM4835654	c.4802G>A	p.R1601Q	Substitution - Missense	Cervix
COSM4387029	c.1039C>T	p.Q347*	Substitution - Nonsense	Lung
COSM233448	c.3146C>T	p.P1049L	Substitution - Missense	Skin
COSM4991228	c.3145C>T	p.P1049S	Substitution - Missense	Skin
COSM5741432	c.296G>A	p.R99Q	Substitution - Missense	Small_intestine
COSM5021996	c.2850C>T	p.T950T	Substitution - coding silent	Bone
COSM5575904	c.3013C>T	p.R1005*	Substitution - Nonsense	Stomach
COSM3735027	c.2766G>A	p.W922*	Substitution - Nonsense	Ovary
COSM4781632	c.3484G>A	p.G1162S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2813652	c.2635A>G	p.I879V	Substitution - Missense	Large_intestine
COSM80550	c.3324C>T	p.L1108L	Substitution - coding silent	Ovary
COSM710133	c.35C>T	p.P12L	Substitution - Missense	Lung
COSM5725985	c.4351C>T	p.L1451F	Substitution - Missense	Skin
COSM3528419	c.1881C>T	p.I627I	Substitution - coding silent	Skin
COSM4521307	c.1105G>A	p.E369K	Substitution - Missense	Skin
COSM3821900	c.3426C>A	p.F1142L	Substitution - Missense	Breast
COSM3756290	c.1413G>A	p.K471K	Substitution - coding silent	Soft_tissue
COSM3422395	c.3598C>T	p.R1200C	Substitution - Missense	Large_intestine
COSM5610639	c.4480C>G	p.L1494V	Substitution - Missense	Skin
COSM4767461	c.3633G>A	p.E1211E	Substitution - coding silent	Biliary_tract
COSM126317	c.3566G>A	p.R1189Q	Substitution - Missense	Large_intestine
COSM5019501	c.859+7T>A	p.?	Unknown	Soft_tissue
COSM4131185	c.1524T>C	p.H508H	Substitution - coding silent	Soft_tissue
COSM5610620	c.787C>T	p.P263S	Substitution - Missense	Skin
COSM4749937	c.2788C>T	p.P930S	Substitution - Missense	Stomach
COSM4074040	c.2344G>A	p.G782S	Substitution - Missense	Stomach
COSM4389500	c.1906G>A	p.A636T	Substitution - Missense	Pancreas
COSM4998639	c.3410T>C	p.M1137T	Substitution - Missense	Pancreas
COSM4495981	c.4557C>T	p.Y1519Y	Substitution - coding silent	Skin
COSM30577	c.2653C>T	p.R885C	Substitution - Missense	Large_intestine
COSM5511017	c.1561C>T	p.R521W	Substitution - Missense	Biliary_tract
COSM990752	c.3046G>A	p.V1016M	Substitution - Missense	Stomach
COSM2813674	c.2832C>G	p.N944K	Substitution - Missense	Oesophagus
COSM3528431	c.3538C>T	p.P1180S	Substitution - Missense	Skin
COSM180750	c.1142G>A	p.R381Q	Substitution - Missense	Endometrium
COSM3724489	c.2287_2288insG	p.E763fs*61	Insertion - Frameshift	Ovary
COSM215752	c.3694G>A	p.G1232S	Substitution - Missense	Skin
COSM303247	c.3574C>T	p.R1192C	Substitution - Missense	Stomach
COSM1159828	c.2644G>A	p.E882K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4889952	c.3450C>A	p.F1150L	Substitution - Missense	Upper_aerodigestive_tract
COSM84489	c.3469C>T	p.R1157W	Substitution - Missense	Pancreas
COSM30577	c.2653C>T	p.R885C	Substitution - Missense	Large_intestine
COSM1494250	c.3203G>A	p.G1068D	Substitution - Missense	Kidney
COSM3528433	c.3918C>T	p.I1306I	Substitution - coding silent	Skin
COSM3528451	c.4692C>T	p.I1564I	Substitution - coding silent	Skin
COSM4926452	c.2731G>A	p.G911S	Substitution - Missense	Liver
COSM710126	c.2080G>T	p.D694Y	Substitution - Missense	Lung
COSM3735012	c.1027_1027delG	p.V343fs*68	Deletion - Frameshift	Ovary
COSM1715923	c.2074G>T	p.D692Y	Substitution - Missense	Liver
COSM131496	c.4471C>T	p.R1491*	Substitution - Nonsense	Large_intestine
COSM4837748	c.1645C>T	p.R549C	Substitution - Missense	Cervix
COSM4496973	c.4775C>T	p.S1592F	Substitution - Missense	Skin
COSM5056201	c.3729G>A	p.R1243R	Substitution - coding silent	Stomach
COSM3692335	c.1810G>A	p.E604K	Substitution - Missense	Large_intestine
COSM2813804	c.4338G>A	p.P1446P	Substitution - coding silent	Large_intestine
COSM88025	c.2729C>T	p.T910M	Substitution - Missense	Central_nervous_system
COSM4991212	c.390C>T	p.A130A	Substitution - coding silent	Skin
COSM1266230	c.1813-2A>G	p.?	Unknown	Oesophagus
COSM1390274	c.3481C>T	p.L1161F	Substitution - Missense	Large_intestine
COSM5019629	c.1509A>G	p.A503A	Substitution - coding silent	Soft_tissue
COSM21741	c.3699G>A	p.M1233I	Substitution - Missense	Skin
COSM1390291	c.4887T>C	p.D1629D	Substitution - coding silent	Soft_tissue
COSM5056197	c.761-2A>G	p.?	Unknown	Stomach
COSM5610612	c.4377C>T	p.T1459T	Substitution - coding silent	Skin
COSM88025	c.2729C>T	p.T910M	Substitution - Missense	Central_nervous_system
COSM3735024	c.2190_2191insG	p.Y731fs*10	Insertion - Frameshift	Ovary
COSM5005117	c.1941G>A	p.P647P	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM4074036	c.2225T>C	p.V742A	Substitution - Missense	Stomach
COSM4483974	c.2756C>T	p.P919L	Substitution - Missense	Skin
COSM131496	c.4471C>T	p.R1491*	Substitution - Nonsense	Liver
COSM3733280	c.3724G>T	p.E1242*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5481459	c.3951+6C>T	p.?	Unknown	Large_intestine
COSM2813578	c.1940C>T	p.P647L	Substitution - Missense	Large_intestine
COSM21741	c.3699G>A	p.M1233I	Substitution - Missense	Skin
COSM5610625	c.2904C>T	p.L968L	Substitution - coding silent	Skin
COSM72737	c.2896C>T	p.R966W	Substitution - Missense	Ovary
COSM3357069	c.2920C>T	p.P974S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5692648	c.3386C>G	p.T1129S	Substitution - Missense	Soft_tissue
COSM5933947	c.1696G>A	p.E566K	Substitution - Missense	Skin
COSM710132	c.326C>T	p.P109L	Substitution - Missense	Lung
COSM990750	c.2758G>A	p.E920K	Substitution - Missense	Skin
COSM4406537	c.957A>C	p.P319P	Substitution - coding silent	Pancreas
COSM6006362	c.2935C>T	p.R979*	Substitution - Nonsense	Skin
COSM88024	c.3695G>A	p.G1232D	Substitution - Missense	Central_nervous_system
COSM13921	c.2290T>A	p.W764R	Substitution - Missense	Lung
COSM4822101	c.2332G>C	p.A778P	Substitution - Missense	Cervix
COSM5350474	c.3292A>T	p.K1098*	Substitution - Nonsense	Lung
COSM3724487	c.1165_1165delC	p.S391fs*20	Deletion - Frameshift	Ovary
COSM4991210	c.389C>T	p.A130V	Substitution - Missense	Skin
COSM5752650	c.2023C>T	p.Q675*	Substitution - Nonsense	Breast
COSM88025	c.2729C>T	p.T910M	Substitution - Missense	Pancreas
COSM303247	c.3574C>T	p.R1192C	Substitution - Missense	Central_nervous_system
COSM3724488	c.3896_3907del12	p.E1300_N1303del	Deletion - In frame	Ovary
COSM3528423	c.2301C>T	p.S767S	Substitution - coding silent	Skin
COSM5610637	c.2921C>T	p.P974L	Substitution - Missense	Skin
COSM5965824	c.4611G>C	p.Q1537H	Substitution - Missense	Breast
COSM80549	c.1428C>A	p.L476L	Substitution - coding silent	Ovary
COSM990750	c.2758G>A	p.E920K	Substitution - Missense	Skin
COSM1683542	c.363_364insC	p.S122fs*7	Insertion - Frameshift	Large_intestine
COSM30579	c.3557C>T	p.A1186V	Substitution - Missense	Large_intestine
COSM30572	c.1630C>T	p.Q544*	Substitution - Nonsense	Breast
COSM1266240	c.2932C>T	p.R978*	Substitution - Nonsense	Liver
COSM30619	c.3526A>T	p.S1176C	Substitution - Missense	Lung
COSM4991226	c.2905C>T	p.H969Y	Substitution - Missense	Skin
COSM5365431	c.1694C>T	p.T565M	Substitution - Missense	Large_intestine
COSM30583	c.?_?del?	p.?	Unknown	Liver
COSM5933949	c.2189C>T	p.S730F	Substitution - Missense	Skin
COSM1266228	c.2450_2458delACTGGGCGT	p.W818_Y820delWAY	Deletion - In frame	Oesophagus
COSM4728289	c.417G>A	p.P139P	Substitution - coding silent	Large_intestine
COSM26586	c.4801C>T	p.R1601W	Substitution - Missense	Large_intestine
COSM72737	c.2896C>T	p.R966W	Substitution - Missense	Large_intestine
COSM3735026	c.3244_3244delT	p.F1082fs*24	Deletion - Frameshift	Ovary
COSM255311	c.3304T>C	p.F1102L	Substitution - Missense	Pancreas
COSM88025	c.2729C>T	p.T910M	Substitution - Missense	Kidney
COSM5576008	c.2717G>A	p.R906H	Substitution - Missense	Stomach
COSM1756978	c.1659C>G	p.L553L	Substitution - coding silent	Urinary_tract
COSM88025	c.2729C>T	p.T910M	Substitution - Missense	Central_nervous_system
COSM30588	c.3476delG	p.L1161fs*3	Deletion - Frameshift	Lung
COSM1494248	c.3547-2A>G	p.?	Unknown	Kidney
COSM1190934	c.2988delC	p.K997fs*22	Deletion - Frameshift	Lung
COSM990737	c.1590C>G	p.L530L	Substitution - coding silent	Endometrium
COSM4766053	c.?_?del?	p.?fs	Deletion - Frameshift	Breast
COSM88025	c.2729C>T	p.T910M	Substitution - Missense	Large_intestine
COSM417763	c.2376C>T	p.L792L	Substitution - coding silent	Urinary_tract
COSM3357074	c.3813C>T	p.F1271F	Substitution - coding silent	Skin
COSM3388569	c.3922C>T	p.R1308W	Substitution - Missense	Pancreas
COSM3528421	c.2005G>A	p.E669K	Substitution - Missense	Skin
COSM1390240	c.322delC	p.P109fs*194	Deletion - Frameshift	Large_intestine
COSM215752	c.3694G>A	p.G1232S	Substitution - Missense	Pancreas
COSM249607	c.3424T>G	p.F1142V	Substitution - Missense	Kidney
COSM4074056	c.3830C>T	p.P1277L	Substitution - Missense	Large_intestine
COSM5752650	c.2023C>T	p.Q675*	Substitution - Nonsense	Breast
COSM4131185	c.1524T>C	p.H508H	Substitution - coding silent	Soft_tissue
COSM382066	c.2338G>A	p.E780K	Substitution - Missense	Lung
COSM4074042	c.2697G>A	p.T899T	Substitution - coding silent	Stomach
COSM3422393	c.2576C>T	p.T859M	Substitution - Missense	Large_intestine
COSM3528445	c.4410C>T	p.I1470I	Substitution - coding silent	Skin
COSM5065142	c.1662_1662delG	p.L554fs*59	Deletion - Frameshift	Kidney
COSM88025	c.2729C>T	p.T910M	Substitution - Missense	Pancreas
COSM3724497	c.3546+1G>A	p.?	Unknown	Ovary
COSM3989671	c.3731G>C	p.R1244P	Substitution - Missense	Kidney
COSM30587	c.805_806delCC	p.P270fs*16	Deletion - Frameshift	Lung
COSM72736	c.2059A>G	p.K687E	Substitution - Missense	Ovary
COSM3403745	c.3144C>T	p.H1048H	Substitution - coding silent	Central_nervous_system
COSM215752	c.3694G>A	p.G1232S	Substitution - Missense	Pancreas
COSM1172567	c.2933G>A	p.R978Q	Substitution - Missense	Oesophagus
COSM3724498	c.4170+1G>A	p.?	Unknown	Ovary
COSM4958514	c.2676G>A	p.K892K	Substitution - coding silent	Liver
COSM3742721	c.2016G>A	p.E672E	Substitution - coding silent	Liver
COSM3970690	c.3058G>T	p.D1020Y	Substitution - Missense	Central_nervous_system
COSM1226755	c.3436G>A	p.G1146S	Substitution - Missense	Large_intestine
COSM4498896	c.52C>T	p.P18S	Substitution - Missense	Skin
COSM1750634	c.499C>G	p.R167G	Substitution - Missense	Urinary_tract
COSM3718056	c.2521A>C	p.R841R	Substitution - coding silent	Liver
COSM3414025	c.3493C>T	p.L1165F	Substitution - Missense	Oesophagus
COSM4915595	c.3479G>A	p.G1160E	Substitution - Missense	Liver
COSM5610614	c.4014G>A	p.M1338I	Substitution - Missense	Skin
COSM3989669	c.3059A>G	p.D1020G	Substitution - Missense	Kidney
COSM131496	c.4471C>T	p.R1491*	Substitution - Nonsense	Large_intestine
COSM215752	c.3694G>A	p.G1232S	Substitution - Missense	Central_nervous_system
COSM1756980	c.1926G>C	p.W642C	Substitution - Missense	Urinary_tract
COSM3362641	c.4113C>A	p.S1371S	Substitution - coding silent	Kidney
COSM3528425	c.2354A>G	p.K785R	Substitution - Missense	Skin
COSM84490	c.3586C>T	p.Q1196*	Substitution - Nonsense	Pancreas
COSM1303971	c.2220G>A	p.E740E	Substitution - coding silent	Oesophagus
COSM88025	c.2729C>T	p.T910M	Substitution - Missense	Central_nervous_system
COSM340493	c.1781G>C	p.G594A	Substitution - Missense	Lung
COSM4986342	c.2019G>T	p.Q673H	Substitution - Missense	Soft_tissue
COSM1390248	c.1130G>A	p.R377H	Substitution - Missense	Large_intestine
COSM4767762	c.3610C>T	p.L1204F	Substitution - Missense	Biliary_tract
COSM4991218	c.808C>T	p.P270S	Substitution - Missense	Skin
COSM5718000	c.1902C>T	p.P634P	Substitution - coding silent	Skin
COSM5024298	c.1337C>A	p.S446Y	Substitution - Missense	Bone
COSM30580	c.4007G>A	p.R1336H	Substitution - Missense	Large_intestine
COSM5364882	c.3798C>T	p.S1266S	Substitution - coding silent	Large_intestine
COSM1159828	c.2644G>A	p.E882K	Substitution - Missense	Skin
COSM3528409	c.829C>T	p.P277S	Substitution - Missense	Skin
COSM4580606	c.3652G>T	p.A1218S	Substitution - Missense	Bone
COSM5365431	c.1694C>T	p.T565M	Substitution - Missense	Large_intestine
COSM3724527	c.2438+1_2438+2insTGA	p.?	Unknown	Ovary
COSM1266240	c.2932C>T	p.R978*	Substitution - Nonsense	Oesophagus
COSM3528407	c.820G>A	p.G274S	Substitution - Missense	Skin
COSM3724499	c.1761+1G>A	p.?	Unknown	Ovary
COSM26586	c.4801C>T	p.R1601W	Substitution - Missense	Kidney
COSM215752	c.3694G>A	p.G1232S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1266238	c.3575G>A	p.R1192H	Substitution - Missense	Oesophagus
COSM990755	c.3374G>T	p.R1125M	Substitution - Missense	Endometrium
COSM990750	c.2758G>A	p.E920K	Substitution - Missense	Skin
COSM2813773	c.4091_4093delAGA	p.K1365delK	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM30571	c.805delC	p.M272fs*31	Deletion - Frameshift	Large_intestine
COSM4489181	c.3440C>T	p.S1147F	Substitution - Missense	Skin
COSM88025	c.2729C>T	p.T910M	Substitution - Missense	Stomach
COSM1611522	c.513A>G	p.P171P	Substitution - coding silent	Liver
COSM3422397	c.4188G>A	p.T1396T	Substitution - coding silent	Large_intestine
COSM4913602	c.2018A>G	p.Q673R	Substitution - Missense	Liver
COSM4970125	c.3637_3639delAAG	p.K1213delK	Deletion - In frame	Central_nervous_system
COSM990752	c.3046G>A	p.V1016M	Substitution - Missense	Endometrium
COSM1266240	c.2932C>T	p.R978*	Substitution - Nonsense	Ovary
COSM4958128	c.1251C>T	p.R417R	Substitution - coding silent	Liver
COSM4131185	c.1524T>C	p.H508H	Substitution - coding silent	Soft_tissue
COSM4508998	c.793C>T	p.P265S	Substitution - Missense	Skin
COSM30582	c.4826T>C	p.L1609P	Substitution - Missense	Central_nervous_system
COSM1390291	c.4887T>C	p.D1629D	Substitution - coding silent	Soft_tissue
COSM4728296	c.4328G>A	p.R1443H	Substitution - Missense	Large_intestine
COSM84488	c.3229C>T	p.R1077*	Substitution - Nonsense	Central_nervous_system
COSM990758	c.4090G>A	p.E1364K	Substitution - Missense	Endometrium
COSM4492781	c.4034C>T	p.S1345L	Substitution - Missense	Skin
COSM30570	c.2184_2206del23	p.Q729fs*4	Deletion - Frameshift	Lung
COSM4653025	c.3998G>A	p.R1333Q	Substitution - Missense	Stomach
COSM1266238	c.3575G>A	p.R1192H	Substitution - Missense	Liver
COSM30569	c.3166G>T	p.E1056*	Substitution - Nonsense	Lung
COSM1172567	c.2933G>A	p.R978Q	Substitution - Missense	Skin
COSM1756978	c.1659C>G	p.L553L	Substitution - coding silent	Urinary_tract
COSM5567416	c.4428C>T	p.S1476S	Substitution - coding silent	Prostate
COSM3724526	c.2855_2855delA	p.K953fs*4	Deletion - Frameshift	Ovary
COSM2813591	c.2057_2059delAGA	p.K689delK	Deletion - In frame	Breast
COSM5731083	c.3890C>T	p.P1297L	Substitution - Missense	Breast
COSM3528445	c.4410C>T	p.I1470I	Substitution - coding silent	Skin
COSM1756982	c.1948G>C	p.E650Q	Substitution - Missense	Urinary_tract
COSM88025	c.2729C>T	p.T910M	Substitution - Missense	Biliary_tract
COSM438518	c.2484C>G	p.S828S	Substitution - coding silent	Breast
COSM3388567	c.3547G>A	p.D1183N	Substitution - Missense	Pancreas
COSM4131185	c.1524T>C	p.H508H	Substitution - coding silent	Soft_tissue
COSM5659991	c.1506G>T	p.K502N	Substitution - Missense	Soft_tissue
COSM30590	c.3729_3730delGC	p.A1245fs*13	Deletion - Frameshift	Lung
COSM255312	c.3727C>T	p.R1243W	Substitution - Missense	Peritoneum
COSM215751	c.3403C>T	p.R1135W	Substitution - Missense	Urinary_tract
COSM990736	c.1108C>T	p.R370C	Substitution - Missense	Endometrium
COSM2813816	c.4403C>G	p.A1468G	Substitution - Missense	Large_intestine
COSM4074028	c.1803G>A	p.P601P	Substitution - coding silent	Stomach
COSM990759	c.4158G>A	p.K1386K	Substitution - coding silent	Endometrium
COSM1735696	c.?	p.S828F	Nonstop extension	Skin
COSM4131185	c.1524T>C	p.H508H	Substitution - coding silent	Soft_tissue
COSM1191153	c.2989delA	p.K997fs*22	Deletion - Frameshift	Lung
COSM5732215	c.3296_3298delTGC	p.L1101delL	Deletion - In frame	Pancreas
COSM1161253	c.2918G>A	p.R973Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4074022	c.851G>T	p.W284L	Substitution - Missense	Upper_aerodigestive_tract
COSM4580602	c.1557C>T	p.N519N	Substitution - coding silent	Bone
COSM4927386	c.2090A>G	p.D697G	Substitution - Missense	Liver
COSM30579	c.3557C>T	p.A1186V	Substitution - Missense	Stomach
COSM1725989	c.2942A>T	p.K981M	Substitution - Missense	Liver
COSM5019629	c.1509A>G	p.A503A	Substitution - coding silent	Soft_tissue
COSM3724529	c.2438+1G>A	p.?	Unknown	Ovary
COSM710127	c.1975G>T	p.E659*	Substitution - Nonsense	Lung
COSM5807260	c.2193C>G	p.Y731*	Substitution - Nonsense	Liver
COSM3422397	c.4188G>A	p.T1396T	Substitution - coding silent	Stomach
COSM990735	c.451G>A	p.G151S	Substitution - Missense	Endometrium
COSM1303973	c.2222G>A	p.R741K	Substitution - Missense	Urinary_tract
COSM5968524	c.2481C>A	p.P827P	Substitution - coding silent	Genital_tract
COSM2813800	c.4329C>T	p.R1443R	Substitution - coding silent	Stomach
COSM5576273	c.1631_1633delAGA	p.K546delK	Deletion - In frame	Stomach
COSM215749	c.2461G>A	p.E821K	Substitution - Missense	Urinary_tract
COSM1161249	c.1593+2T>C	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5621868	c.1312G>A	p.A438T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1737872	c.3760G>T	p.E1254*	Substitution - Nonsense	Ovary
COSM1666645	c.?	p.F1059fs*23	Unknown	Ovary
COSM30570	c.2184_2206del23	p.Q729fs*4	Deletion - Frameshift	Ovary
COSM1189884	c.2936G>T	p.R979L	Substitution - Missense	Lung
COSM3970682	c.272A>G	p.N91S	Substitution - Missense	Central_nervous_system
COSM4074054	c.3580G>A	p.G1194R	Substitution - Missense	Stomach
COSM4074052	c.3351G>A	p.A1117A	Substitution - coding silent	Stomach
COSM30575	c.3488T>C	p.L1163P	Substitution - Missense	Large_intestine
COSM4781632	c.3484G>A	p.G1162S	Substitution - Missense	Oesophagus
COSM4490920	c.3713C>T	p.S1238F	Substitution - Missense	Skin
COSM5582577	c.2512C>T	p.P838S	Substitution - Missense	Skin
COSM4440552	c.4776C>T	p.S1592S	Substitution - coding silent	Skin
COSM4969188	c.1538G>A	p.R513Q	Substitution - Missense	Central_nervous_system
COSM367210	c.4617C>G	p.F1539L	Substitution - Missense	Lung
COSM4074056	c.3830C>T	p.P1277L	Substitution - Missense	Stomach
COSM1715924	c.3485G>T	p.G1162V	Substitution - Missense	Liver
COSM3724529	c.2438+1G>A	p.?	Unknown	Ovary
COSM1161253	c.2918G>A	p.R973Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3726098	c.3002C>A	p.S1001Y	Substitution - Missense	Lung
COSM3735013	c.1687_1700del14	p.N563fs*83	Deletion - Frameshift	Ovary
COSM4519143	c.995_996CC>TT	p.S332F	Substitution - Missense	Skin
COSM30577	c.2653C>T	p.R885C	Substitution - Missense	Large_intestine
COSM30573	c.729delC	p.P244fs*59	Deletion - Frameshift	Pancreas
COSM1756982	c.1948G>C	p.E650Q	Substitution - Missense	Urinary_tract
COSM108983	c.4113C>T	p.S1371S	Substitution - coding silent	Skin
COSM4991218	c.808C>T	p.P270S	Substitution - Missense	Skin
COSM4657184	c.1343G>A	p.R448H	Substitution - Missense	Large_intestine
COSM1611522	c.513A>G	p.P171P	Substitution - coding silent	Liver
COSM1240261	c.2695A>G	p.T899A	Substitution - Missense	Oesophagus
COSM990757	c.3631G>A	p.E1211K	Substitution - Missense	Endometrium
COSM3528417	c.1548G>A	p.K516K	Substitution - coding silent	Skin
COSM3733266	c.3186C>G	p.H1062Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4074034	c.2166G>T	p.Q722H	Substitution - Missense	Stomach
COSM4932077	c.1327A>C	p.K443Q	Substitution - Missense	Liver
COSM4464762	c.1350C>T	p.A450A	Substitution - coding silent	Skin
COSM438516	c.538C>T	p.L180F	Substitution - Missense	Breast
COSM3735030	c.2275-1G>T	p.?	Unknown	Ovary
COSM4781632	c.3484G>A	p.G1162S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3357074	c.3813C>T	p.F1271F	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM3735014	c.1326_1326delC	p.S442fs*59	Deletion - Frameshift	Ovary
COSM5614599	c.3951+1G>A	p.?	Unknown	Lung
COSM88025	c.2729C>T	p.T910M	Substitution - Missense	Stomach
COSM5741434	c.3873G>T	p.K1291N	Substitution - Missense	Small_intestine
COSM5806320	c.2625G>C	p.W875C	Substitution - Missense	Liver
COSM2813533	c.1259T>C	p.V420A	Substitution - Missense	Large_intestine
COSM4074038	c.2343G>T	p.M781I	Substitution - Missense	Stomach
COSM4749930	c.1183G>T	p.D395Y	Substitution - Missense	Stomach
COSM3970688	c.2651A>G	p.H884R	Substitution - Missense	Central_nervous_system
COSM4728287	c.365C>T	p.S122L	Substitution - Missense	Large_intestine
COSM4640179	c.3620T>C	p.V1207A	Substitution - Missense	Large_intestine
COSM4728298	c.4505G>A	p.R1502H	Substitution - Missense	Large_intestine
COSM417764	c.2357C>A	p.T786N	Substitution - Missense	Urinary_tract
COSM255312	c.3727C>T	p.R1243W	Substitution - Missense	Pancreas
COSM4538148	c.2507G>A	p.G836E	Substitution - Missense	Skin
COSM4169420	c.?	p.A317V	Substitution - Missense	Skin
COSM6017248	c.4693G>A	p.E1565K	Substitution - Missense	Skin
COSM1711831	c.4030C>T	p.P1344S	Substitution - Missense	Skin
COSM1390256	c.1674C>T	p.D558D	Substitution - coding silent	Large_intestine
COSM4427624	c.4226C>A	p.S1409*	Substitution - Nonsense	Oesophagus
COSM3528435	c.4101C>T	p.F1367F	Substitution - coding silent	Skin
COSM5821921	c.2407A>G	p.N803D	Substitution - Missense	Liver
COSM990743	c.2022G>A	p.P674P	Substitution - coding silent	Endometrium
COSM3528415	c.1386C>T	p.I462I	Substitution - coding silent	Skin
COSM133517	c.3857_3858AG>CA	p.E1286A	Substitution - Missense	Ovary
COSM4440552	c.4776C>T	p.S1592S	Substitution - coding silent	Thyroid
COSM3528413	c.1166C>T	p.P389L	Substitution - Missense	Skin
COSM5013370	c.3581G>T	p.G1194V	Substitution - Missense	Kidney
COSM2813822	c.4436G>A	p.R1479H	Substitution - Missense	Large_intestine
COSM3735019	c.2362C>T	p.Q788*	Substitution - Nonsense	Ovary
COSM303247	c.3574C>T	p.R1192C	Substitution - Missense	Skin
COSM88025	c.2729C>T	p.T910M	Substitution - Missense	Pancreas
COSM4991216	c.585C>T	p.P195P	Substitution - coding silent	Skin
COSM1715927	c.4602G>C	p.Q1534H	Substitution - Missense	Liver
COSM4074018	c.811G>A	p.G271R	Substitution - Missense	Stomach
COSM4131185	c.1524T>C	p.H508H	Substitution - coding silent	Soft_tissue
COSM5604954	c.2297T>G	p.V766G	Substitution - Missense	Skin
COSM5963912	c.940G>A	p.A314T	Substitution - Missense	Breast
COSM438515	c.254C>T	p.S85L	Substitution - Missense	Large_intestine
COSM289487	c.2986A>T	p.I996F	Substitution - Missense	Large_intestine
COSM3528427	c.2781C>T	p.F927F	Substitution - coding silent	Skin
COSM3989665	c.2952C>G	p.V984V	Substitution - coding silent	Kidney
COSM1266240	c.2932C>T	p.R978*	Substitution - Nonsense	Liver
COSM88025	c.2729C>T	p.T910M	Substitution - Missense	Kidney
COSM82375	c.1839C>T	p.S613S	Substitution - coding silent	Ovary
COSM990744	c.2298G>A	p.V766V	Substitution - coding silent	Endometrium
COSM5724322	c.233C>T	p.S78F	Substitution - Missense	Skin
COSM5019629	c.1509A>G	p.A503A	Substitution - coding silent	Soft_tissue
COSM72737	c.2896C>T	p.R966W	Substitution - Missense	Large_intestine
COSM3378607	c.3529G>T	p.D1177Y	Substitution - Missense	Pancreas
COSM3733500	c.3565C>G	p.R1189G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3959509	c.2319G>T	p.L773L	Substitution - coding silent	Lung
COSM5388583	c.2262C>T	p.L754L	Substitution - coding silent	Skin
COSM4936472	c.878C>T	p.A293V	Substitution - Missense	Liver
COSM252832	c.1615C>T	p.R539C	Substitution - Missense	Ovary
COSM5553770	c.231G>A	p.E77E	Substitution - coding silent	Prostate
COSM30629	c.4698_4699GG>TT	p.K1566_E1567>N*	Complex - compound substitution	Lung
COSM2813578	c.1940C>T	p.P647L	Substitution - Missense	Biliary_tract
COSM215751	c.3403C>T	p.R1135W	Substitution - Missense	Large_intestine
COSM474149	c.3379G>T	p.D1127Y	Substitution - Missense	Kidney
COSM1737873	c.3277C>T	p.R1093*	Substitution - Nonsense	Ovary
COSM1189882	c.302G>T	p.G101V	Substitution - Missense	Lung
COSM3718056	c.2521A>C	p.R841R	Substitution - coding silent	Liver
COSM88025	c.2729C>T	p.T910M	Substitution - Missense	Large_intestine
COSM3735025	c.2049_2049delC	p.V684fs*90	Deletion - Frameshift	Ovary
COSM53191	c.2505+2T>C	p.?	Unknown	Lung
COSM2813591	c.2057_2059delAGA	p.K689delK	Deletion - In frame	Skin
COSM3970694	c.3702C>G	p.F1234L	Substitution - Missense	Central_nervous_system
COSM5364689	c.995delC	p.Q335fs*76	Deletion - Frameshift	Large_intestine
COSM1684568	c.3157delC	p.Q1053fs*53	Deletion - Frameshift	Skin
COSM474144	c.1917G>T	p.L639L	Substitution - coding silent	Kidney
COSM84489	c.3469C>T	p.R1157W	Substitution - Missense	Skin
COSM1390291	c.4887T>C	p.D1629D	Substitution - coding silent	Large_intestine
COSM4131185	c.1524T>C	p.H508H	Substitution - coding silent	Soft_tissue
COSM3528437	c.4252G>A	p.D1418N	Substitution - Missense	Skin
COSM1737873	c.3277C>T	p.R1093*	Substitution - Nonsense	Ovary
COSM3756290	c.1413G>A	p.K471K	Substitution - coding silent	Soft_tissue
COSM1711829	c.2620C>T	p.R874C	Substitution - Missense	Skin
COSM76524	c.2441C>A	p.T814K	Substitution - Missense	Breast
COSM215749	c.2461G>A	p.E821K	Substitution - Missense	Central_nervous_system
COSM215750	c.2735C>A	p.T912K	Substitution - Missense	Central_nervous_system
COSM990761	c.4201G>A	p.E1401K	Substitution - Missense	Endometrium
COSM3733382	c.3109A>T	p.N1037Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4074032	c.2079A>C	p.P693P	Substitution - coding silent	Stomach
COSM5610635	c.4484C>T	p.P1495L	Substitution - Missense	Skin
COSM1680658	c.1252C>T	p.Q418*	Substitution - Nonsense	Lung
COSM3735032	c.1419+1G>T	p.?	Unknown	Ovary
COSM4991206	c.223C>A	p.P75T	Substitution - Missense	Skin
COSM3718058	c.3910C>T	p.Q1304*	Substitution - Nonsense	Liver
COSM30585	c.1677_1761del85	p.?	Unknown	Prostate
COSM5718002	c.2650C>T	p.H884Y	Substitution - Missense	Skin
COSM233449	c.4271C>T	p.P1424L	Substitution - Missense	Skin
COSM710123	c.3636G>C	p.E1212D	Substitution - Missense	Lung
COSM990750	c.2758G>A	p.E920K	Substitution - Missense	Oesophagus
COSM3357071	c.2941A>G	p.K981E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5511017	c.1561C>T	p.R521W	Substitution - Missense	Lung
COSM1161251	c.2917C>T	p.R973W	Substitution - Missense	Cervix
COSM30583	c.?_?del?	p.?	Unknown	Prostate
COSM2813480	c.359_360insC	p.S122fs*7	Insertion - Frameshift	Large_intestine
COSM3528427	c.2781C>T	p.F927F	Substitution - coding silent	Skin
COSM6003499	c.2621G>A	p.R874H	Substitution - Missense	Prostate
COSM401803	c.3475G>T	p.G1159W	Substitution - Missense	Lung
COSM30584	c.1761G>T	p.?	Unknown	Prostate
COSM3735022	c.4687_4687delA	p.I1564fs*32	Deletion - Frameshift	Ovary
COSM335837	c.991C>T	p.Q331*	Substitution - Nonsense	Lung
COSM359264	c.2008G>T	p.E670*	Substitution - Nonsense	Lung
COSM4856856	c.1603G>A	p.E535K	Substitution - Missense	Cervix
COSM3528445	c.4410C>T	p.I1470I	Substitution - coding silent	Skin
COSM4074064	c.4231C>T	p.R1411W	Substitution - Missense	Stomach
COSM1390291	c.4887T>C	p.D1629D	Substitution - coding silent	Soft_tissue
COSM4991230	c.4857G>A	p.G1619G	Substitution - coding silent	Skin
COSM263763	c.4200C>T	p.I1400I	Substitution - coding silent	Large_intestine
COSM564788	c.1141C>T	p.R381*	Substitution - Nonsense	Large_intestine
COSM1611528	c.3574C>G	p.R1192G	Substitution - Missense	Liver
COSM3735020	c.3676C>T	p.Q1226*	Substitution - Nonsense	Ovary
COSM4140235	c.3358G>A	p.G1120S	Substitution - Missense	Ovary
COSM990745	c.2322C>T	p.N774N	Substitution - coding silent	Endometrium
COSM1226765	c.3500C>T	p.S1167L	Substitution - Missense	Large_intestine
COSM1524019	c.2457G>A	p.A819A	Substitution - coding silent	Stomach
COSM1390279	c.3834A>G	p.P1278P	Substitution - coding silent	Large_intestine
COSM4474880	c.194C>T	p.P65L	Substitution - Missense	Skin
COSM1611522	c.513A>G	p.P171P	Substitution - coding silent	Liver
COSM990762	c.4232G>A	p.R1411Q	Substitution - Missense	Endometrium
COSM3528405	c.564G>A	p.K188K	Substitution - coding silent	Skin
COSM4074050	c.3350C>T	p.A1117V	Substitution - Missense	Stomach
COSM990754	c.3356G>A	p.R1119H	Substitution - Missense	Endometrium
COSM3724524	c.3481_3481delC	p.L1161fs*3	Deletion - Frameshift	Ovary
COSM4131185	c.1524T>C	p.H508H	Substitution - coding silent	Thyroid
COSM5610627	c.3505G>C	p.D1169H	Substitution - Missense	Skin
COSM5686023	c.3901A>G	p.T1301A	Substitution - Missense	Soft_tissue
COSM5724322	c.233C>T	p.S78F	Substitution - Missense	Skin
COSM4470935	c.168C>T	p.I56I	Substitution - coding silent	Skin
COSM3772495	c.3774+1G>A	p.?	Unknown	Pancreas
COSM255878	c.3694G>T	p.G1232C	Substitution - Missense	Central_nervous_system
COSM4991220	c.809C>T	p.P270L	Substitution - Missense	Skin
COSM5610616	c.4597_4599delTGC	p.C1533delC	Deletion - In frame	Skin
COSM1711833	c.4367C>T	p.P1456L	Substitution - Missense	Skin
COSM405189	c.3475delG	p.L1161fs*3	Deletion - Frameshift	Large_intestine
COSM337043	c.2011G>T	p.E671*	Substitution - Nonsense	Lung
COSM438519	c.3768_3769delGG	p.D1257fs*1	Deletion - Frameshift	Breast
COSM4277770	c.2206C>T	p.H736Y	Substitution - Missense	Skin
COSM1390281	c.4051G>A	p.D1351N	Substitution - Missense	Large_intestine
COSM474150	c.3557C>G	p.A1186G	Substitution - Missense	Kidney
COSM990746	c.2402G>A	p.R801H	Substitution - Missense	Large_intestine
COSM4408938	c.2738C>T	p.P913L	Substitution - Missense	Stomach
COSM4781632	c.3484G>A	p.G1162S	Substitution - Missense	Pancreas
COSM215752	c.3694G>A	p.G1232S	Substitution - Missense	Pancreas
COSM235407	c.3147C>T	p.P1049P	Substitution - coding silent	Skin
COSM215749	c.2461G>A	p.E821K	Substitution - Missense	Kidney
COSM4969188	c.1538G>A	p.R513Q	Substitution - Missense	Biliary_tract
COSM438520	c.3770_3771insC	p.E1258fs*1	Insertion - Frameshift	Breast
COSM3724530	c.2439-2A>T	p.?	Unknown	Ovary
COSM326512	c.830C>A	p.P277H	Substitution - Missense	Lung
COSM990743	c.2022G>A	p.P674P	Substitution - coding silent	Breast
COSM2813529	c.1135G>A	p.A379T	Substitution - Missense	Large_intestine
COSM3735029	c.233_237CCATG>ACC	p.S78fs*3	Complex - frameshift	Ovary
COSM4074048	c.2995G>A	p.D999N	Substitution - Missense	Stomach
COSM5388581	c.1573G>A	p.E525K	Substitution - Missense	Skin
COSM384773	c.4635G>T	p.L1545L	Substitution - coding silent	Lung
COSM990753	c.3315G>T	p.M1105I	Substitution - Missense	Endometrium
COSM215752	c.3694G>A	p.G1232S	Substitution - Missense	Stomach
COSM5511015	c.318delG	p.P109fs*194	Deletion - Frameshift	Biliary_tract
COSM1226767	c.1367T>C	p.L456P	Substitution - Missense	Large_intestine
COSM4422938	c.1405C>T	p.R469W	Substitution - Missense	Kidney
COSM255310	c.2837C>T	p.P946L	Substitution - Missense	Central_nervous_system
COSM4546733	c.4062G>A	p.V1354V	Substitution - coding silent	Skin
COSM474147	c.2439-1G>A	p.?	Unknown	Kidney
COSM5885279	c.?	p.T894M	Substitution - Missense	Large_intestine
COSM1666644	c.?	p.R1157W	Substitution - Missense	Ovary
COSM5420704	c.2545C>T	p.R849W	Substitution - Missense	Prostate
COSM4140237	c.3359G>T	p.G1120V	Substitution - Missense	Ovary
COSM394673	c.1525G>T	p.A509S	Substitution - Missense	Lung
COSM1750634	c.499C>G	p.R167G	Substitution - Missense	Urinary_tract
COSM3735051	c.3547_3951del405	p.D1183_M1317del	Deletion - In frame	Ovary
COSM1226763	c.1111G>A	p.E371K	Substitution - Missense	Large_intestine
COSM4074024	c.1190G>A	p.R397Q	Substitution - Missense	Stomach
COSM3371142	c.2789C>T	p.P930L	Substitution - Missense	Thyroid
COSM215751	c.3403C>T	p.R1135W	Substitution - Missense	Central_nervous_system
COSM215752	c.3694G>A	p.G1232S	Substitution - Missense	Endometrium
COSM3756290	c.1413G>A	p.K471K	Substitution - coding silent	Soft_tissue
COSM3724530	c.2439-2A>T	p.?	Unknown	Ovary
COSM3378605	c.2444T>C	p.L815P	Substitution - Missense	Pancreas
COSM110492	c.2300C>T	p.S767F	Substitution - Missense	Skin
COSM5718002	c.2650C>T	p.H884Y	Substitution - Missense	Skin
COSM1740485	c.3404G>A	p.R1135Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1680660	c.2767G>C	p.A923P	Substitution - Missense	Kidney
COSM710131	c.355+1G>T	p.?	Unknown	Lung
COSM30581	c.3850G>A	p.D1284N	Substitution - Missense	Large_intestine
COSM363299	c.1917_1918GG>CT	p.L639>?	Complex	Lung
COSM3712783	c.4005G>A	p.P1335P	Substitution - coding silent	Upper_aerodigestive_tract
COSM4845390	c.1338C>T	p.S446S	Substitution - coding silent	Cervix
COSM3891500	c.4208A>G	p.E1403G	Substitution - Missense	Skin
COSM1194749	c.3703G>T	p.D1235Y	Substitution - Missense	Lung
COSM4979747	c.4540A>G	p.I1514V	Substitution - Missense	Oesophagus
COSM3357069	c.2920C>T	p.P974S	Substitution - Missense	Skin
COSM4856527	c.1701G>T	p.L567L	Substitution - coding silent	Cervix
COSM3735030	c.2275-1G>T	p.?	Unknown	Breast
COSM5364882	c.3798C>T	p.S1266S	Substitution - coding silent	Large_intestine
COSM4440537	c.1864G>A	p.V622M	Substitution - Missense	Thyroid
COSM361944	c.3706C>T	p.Q1236*	Substitution - Nonsense	Lung
COSM5914200	c.2483C>T	p.S828F	Substitution - Missense	Skin
COSM1266238	c.3575G>A	p.R1192H	Substitution - Missense	Central_nervous_system
COSM5046647	c.2272C>T	p.Q758*	Substitution - Nonsense	Oesophagus
COSM30585	c.1677_1761del85	p.?	Unknown	Lung
COSM1161249	c.1593+2T>C	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM3735017	c.2245_2246insA	p.M749fs*75	Insertion - Frameshift	Ovary
COSM5981445	c.3623A>G	p.N1208S	Substitution - Missense	Upper_aerodigestive_tract
COSM3528411	c.1016C>T	p.P339L	Substitution - Missense	Skin
COSM3528429	c.2877G>A	p.E959E	Substitution - coding silent	Skin
COSM5513463	c.355+2T>C	p.?	Unknown	Biliary_tract
COSM1390291	c.4887T>C	p.D1629D	Substitution - coding silent	Soft_tissue
COSM3735034	c.1761+2T>A	p.?	Unknown	Ovary
COSM4074022	c.851G>T	p.W284L	Substitution - Missense	Stomach
COSM990748	c.2682G>A	p.T894T	Substitution - coding silent	Endometrium
COSM3733301	c.2641G>A	p.D881N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4934070	c.356-2A>T	p.?	Unknown	Liver
COSM1711827	c.2351G>A	p.G784E	Substitution - Missense	Skin
COSM88673	c.3306C>G	p.F1102L	Substitution - Missense	Breast
COSM30575	c.3488T>C	p.L1163P	Substitution - Missense	Large_intestine
COSM30575	c.3488T>C	p.L1163P	Substitution - Missense	Large_intestine
COSM5018674	c.4078_4080delGAG	p.E1364delE	Deletion - In frame	Soft_tissue
COSM4074058	c.3831G>A	p.P1277P	Substitution - coding silent	Stomach
COSM990749	c.2713C>T	p.R905C	Substitution - Missense	Endometrium
COSM4422820	c.2239G>A	p.A747T	Substitution - Missense	Kidney
COSM255312	c.3727C>T	p.R1243W	Substitution - Missense	Pancreas
COSM3528439	c.4270C>T	p.P1424S	Substitution - Missense	Skin
COSM990751	c.3005C>T	p.A1002V	Substitution - Missense	Endometrium
COSM390130	c.1458C>G	p.F486L	Substitution - Missense	Lung
COSM5554980	c.691G>A	p.G231S	Substitution - Missense	Prostate
COSM368689	c.3546+1G>T	p.?	Unknown	Lung
COSM2813804	c.4338G>A	p.P1446P	Substitution - coding silent	Breast
COSM30593	c.2002-2A>G	p.?	Unknown	Lung
COSM1303977	c.3099G>C	p.K1033N	Substitution - Missense	Urinary_tract
COSM4749928	c.1121T>C	p.L374P	Substitution - Missense	Stomach
COSM4645973	c.2439A>C	p.S813S	Substitution - coding silent	Large_intestine
COSM1390291	c.4887T>C	p.D1629D	Substitution - coding silent	Soft_tissue
COSM1611524	c.1666C>T	p.Q556*	Substitution - Nonsense	Liver
COSM5414787	c.3291C>G	p.H1097Q	Substitution - Missense	Breast
COSM4767767	c.3704A>G	p.D1235G	Substitution - Missense	Biliary_tract
COSM26904	c.1419+5G>T	p.?	Unknown	Pancreas
COSM4830492	c.2547G>A	p.R849R	Substitution - coding silent	Cervix
COSM990765	c.4606G>A	p.A1536T	Substitution - Missense	Endometrium
COSM5474045	c.2373G>A	p.A791A	Substitution - coding silent	Large_intestine
COSM5729491	c.2042C>T	p.T681I	Substitution - Missense	Skin
COSM303248	c.3572A>G	p.H1191R	Substitution - Missense	Central_nervous_system
COSM1390291	c.4887T>C	p.D1629D	Substitution - coding silent	Large_intestine
COSM5028497	c.2592C>G	p.I864M	Substitution - Missense	Breast
COSM2813800	c.4329C>T	p.R1443R	Substitution - coding silent	Large_intestine
COSM1390289	c.4823G>A	p.R1608Q	Substitution - Missense	Large_intestine
COSM13921	c.2290T>A	p.W764R	Substitution - Missense	Lung
COSM217157	c.3531C>A	p.D1177E	Substitution - Missense	Liver
COSM3989661	c.1889G>C	p.G630A	Substitution - Missense	Kidney
COSM710124	c.2581G>A	p.E861K	Substitution - Missense	Lung
COSM4457813	c.1060C>T	p.P354S	Substitution - Missense	Skin
COSM3724500	c.2859+1G>A	p.?	Unknown	Ovary
COSM303247	c.3574C>T	p.R1192C	Substitution - Missense	Central_nervous_system
COSM386924	c.3056C>T	p.T1019I	Substitution - Missense	Lung
COSM5691298	c.3156C>G	p.F1052L	Substitution - Missense	Soft_tissue
COSM40628	c.130G>A	p.G44R	Substitution - Missense	Central_nervous_system
COSM4074030	c.1889G>A	p.G630D	Substitution - Missense	Stomach
COSM3733287	c.4600C>A	p.Q1534K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3756294	c.4584C>T	p.D1528D	Substitution - coding silent	Soft_tissue
COSM343247	c.1195A>T	p.K399*	Substitution - Nonsense	Lung
COSM30576	c.1208A>G	p.E403G	Substitution - Missense	Ovary
COSM1288089	c.3553C>A	p.Q1185K	Substitution - Missense	Autonomic_ganglia
COSM2813591	c.2057_2059delAGA	p.K689delK	Deletion - In frame	Large_intestine
COSM4749941	c.3306C>A	p.F1102L	Substitution - Missense	Stomach
COSM3528449	c.4511C>T	p.P1504L	Substitution - Missense	Skin
COSM4131185	c.1524T>C	p.H508H	Substitution - coding silent	Soft_tissue
COSM217157	c.3531C>A	p.D1177E	Substitution - Missense	Liver
COSM1303971	c.2220G>A	p.E740E	Substitution - coding silent	Urinary_tract
COSM5718000	c.1902C>T	p.P634P	Substitution - coding silent	Skin
COSM990756	c.3630_3632delGGA	p.E1212delE	Deletion - In frame	Endometrium
COSM215749	c.2461G>A	p.E821K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2813802	c.4333C>T	p.R1445W	Substitution - Missense	Large_intestine
COSM5752506	c.4619_4635+8del25	p.?	Unknown	Breast
COSM3712779	c.223-1G>T	p.?	Unknown	Upper_aerodigestive_tract
COSM4973096	c.112T>C	p.S38P	Substitution - Missense	Oesophagus
COSM5019894	c.4053C>T	p.D1351D	Substitution - coding silent	Soft_tissue
COSM5967309	c.352C>T	p.Q118*	Substitution - Nonsense	Salivary_gland
COSM1715925	c.4615T>C	p.F1539L	Substitution - Missense	Liver
COSM2813529	c.1135G>A	p.A379T	Substitution - Missense	Large_intestine
COSM5668497	c.3575G>C	p.R1192P	Substitution - Missense	Soft_tissue
COSM255312	c.3727C>T	p.R1243W	Substitution - Missense	Central_nervous_system
COSM3756290	c.1413G>A	p.K471K	Substitution - coding silent	Large_intestine
COSM1390291	c.4887T>C	p.D1629D	Substitution - coding silent	Soft_tissue
COSM3378605	c.2444T>C	p.L815P	Substitution - Missense	Pancreas
COSM990746	c.2402G>A	p.R801H	Substitution - Missense	Endometrium
COSM6006433	c.?	p.K1219*	Substitution - Nonsense	Thyroid
COSM131496	c.4471C>T	p.R1491*	Substitution - Nonsense	Stomach
COSM391524	c.455delC	p.P153fs*150	Deletion - Frameshift	Lung
COSM5724322	c.233C>T	p.S78F	Substitution - Missense	Skin
COSM3756294	c.4584C>T	p.D1528D	Substitution - coding silent	Liver
COSM474148	c.2738C>A	p.P913Q	Substitution - Missense	Kidney
COSM3735015	c.2129_2129delC	p.K711fs*63	Deletion - Frameshift	Ovary
COSM1241759	c.2654G>A	p.R885H	Substitution - Missense	Oesophagus
COSM4074012	c.433A>T	p.M145L	Substitution - Missense	Stomach
COSM4477646	c.2170C>T	p.L724F	Substitution - Missense	Skin
COSM3724531	c.4675_4678delAGCG	p.S1559fs*36	Deletion - Frameshift	Ovary
COSM5610641	c.3991C>T	p.P1331S	Substitution - Missense	Skin
COSM3735035	c.3168+1G>C	p.?	Unknown	Ovary
COSM126318	c.3702C>A	p.F1234L	Substitution - Missense	Upper_aerodigestive_tract
COSM2813539	c.1396C>T	p.R466C	Substitution - Missense	Pituitary
COSM2813497	c.517A>C	p.N173H	Substitution - Missense	Large_intestine
COSM1711829	c.2620C>T	p.R874C	Substitution - Missense	Central_nervous_system
COSM4131185	c.1524T>C	p.H508H	Substitution - coding silent	Soft_tissue
COSM3362639	c.4112C>A	p.S1371Y	Substitution - Missense	Kidney
COSM4167502	c.1756_1758delAAG	p.K588delK	Deletion - In frame	Adrenal_gland
COSM30579	c.3557C>T	p.A1186V	Substitution - Missense	Large_intestine
COSM383937	c.4936G>A	p.E1646K	Substitution - Missense	Lung
COSM1161253	c.2918G>A	p.R973Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5610633	c.2535C>T	p.V845V	Substitution - coding silent	Skin
COSM3724525	c.3565C>T	p.R1189*	Substitution - Nonsense	Ovary
COSM110492	c.2300C>T	p.S767F	Substitution - Missense	Oesophagus
COSM1390291	c.4887T>C	p.D1629D	Substitution - coding silent	Upper_aerodigestive_tract
COSM6019342	c.467G>T	p.G156V	Substitution - Missense	Ovary
COSM5610623	c.343C>T	p.Q115*	Substitution - Nonsense	Skin
COSM1161251	c.2917C>T	p.R973W	Substitution - Missense	Stomach
COSM5940940	c.2439-6C>T	p.?	Unknown	Skin
COSM215749	c.2461G>A	p.E821K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3712783	c.4005G>A	p.P1335P	Substitution - coding silent	Upper_aerodigestive_tract
COSM438521	c.4702G>A	p.D1568N	Substitution - Missense	Breast
COSM4490920	c.3713C>T	p.S1238F	Substitution - Missense	Skin
COSM341121	c.1842C>T	p.D614D	Substitution - coding silent	Lung
COSM438517	c.1860C>T	p.I620I	Substitution - coding silent	Breast
COSM4749946	c.3539C>A	p.P1180H	Substitution - Missense	Stomach
COSM88025	c.2729C>T	p.T910M	Substitution - Missense	Central_nervous_system
COSM4746677	c.3363_3366delTAAA	p.K1122fs*17	Deletion - Frameshift	Stomach
COSM180750	c.1142G>A	p.R381Q	Substitution - Missense	Large_intestine
COSM30577	c.2653C>T	p.R885C	Substitution - Missense	Large_intestine
COSM3735023	c.2838_2838delC	p.F947fs*3	Deletion - Frameshift	Ovary
COSM1390291	c.4887T>C	p.D1629D	Substitution - coding silent	Large_intestine
COSM4187742	c.2717G>T	p.R906L	Substitution - Missense	Kidney
COSM255313	c.2651A>C	p.H884P	Substitution - Missense	Central_nervous_system
COSM5610618	c.3705C>G	p.D1235E	Substitution - Missense	Skin
COSM1684566	c.809_810delCC	p.P270fs*16	Deletion - Frameshift	Lung
COSM1756984	c.3470G>A	p.R1157Q	Substitution - Missense	Urinary_tract
COSM30570	c.2184_2206del23	p.Q729fs*4	Deletion - Frameshift	Lung
COSM255312	c.3727C>T	p.R1243W	Substitution - Missense	Pancreas
COSM84488	c.3229C>T	p.R1077*	Substitution - Nonsense	Pancreas
COSM990763	c.4315A>C	p.K1439Q	Substitution - Missense	Endometrium
COSM3756294	c.4584C>T	p.D1528D	Substitution - coding silent	Soft_tissue
COSM315435	c.2687T>A	p.V896E	Substitution - Missense	Lung
COSM4958514	c.2676G>A	p.K892K	Substitution - coding silent	Liver
COSM110492	c.2300C>T	p.S767F	Substitution - Missense	Skin
COSM374287	c.3745G>T	p.A1249S	Substitution - Missense	Lung
COSM1390291	c.4887T>C	p.D1629D	Substitution - coding silent	Soft_tissue
COSM4728293	c.2730G>A	p.T910T	Substitution - coding silent	Large_intestine
COSM88025	c.2729C>T	p.T910M	Substitution - Missense	Central_nervous_system
COSM4497402	c.4870C>T	p.P1624S	Substitution - Missense	Skin
COSM30579	c.3557C>T	p.A1186V	Substitution - Missense	Large_intestine
COSM1390285	c.4105C>A	p.R1369S	Substitution - Missense	Large_intestine
COSM4974705	c.1908C>T	p.A636A	Substitution - coding silent	Oesophagus
COSM1241759	c.2654G>A	p.R885H	Substitution - Missense	Pancreas
COSM3718058	c.3910C>T	p.Q1304*	Substitution - Nonsense	Liver
COSM1756984	c.3470G>A	p.R1157Q	Substitution - Missense	Urinary_tract
COSM131496	c.4471C>T	p.R1491*	Substitution - Nonsense	Central_nervous_system
COSM710130	c.1562G>C	p.R521P	Substitution - Missense	Lung
COSM4074016	c.784C>T	p.P262S	Substitution - Missense	Stomach
COSM4767765	c.2743C>T	p.Q915*	Substitution - Nonsense	Biliary_tract
COSM5031162	c.?	p.?	Substitution - Missense	Thymus
COSM30574	c.589C>T	p.P197S	Substitution - Missense	Meninges
COSM263763	c.4200C>T	p.I1400I	Substitution - coding silent	Skin
COSM84489	c.3469C>T	p.R1157W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM710124	c.2581G>A	p.E861K	Substitution - Missense	Skin
COSM4154038	c.1055T>C	p.I352T	Substitution - Missense	Kidney
COSM72737	c.2896C>T	p.R966W	Substitution - Missense	Oesophagus
COSM1711831	c.4030C>T	p.P1344S	Substitution - Missense	Skin
COSM377529	c.4233G>A	p.R1411R	Substitution - coding silent	Lung
COSM1161251	c.2917C>T	p.R973W	Substitution - Missense	Large_intestine
COSM5517029	c.4602G>A	p.Q1534Q	Substitution - coding silent	Biliary_tract
COSM1756980	c.1926G>C	p.W642C	Substitution - Missense	Urinary_tract
COSM3724528	c.3168+1G>A	p.?	Unknown	Ovary
COSM4389505	c.1907C>T	p.A636V	Substitution - Missense	Pancreas
COSM30592	c.169delC	p.T58fs*36	Deletion - Frameshift	Lung
COSM4131185	c.1524T>C	p.H508H	Substitution - coding silent	Soft_tissue
COSM1226761	c.3967C>T	p.R1323C	Substitution - Missense	Large_intestine
COSM3724491	c.3496C>T	p.Q1166*	Substitution - Nonsense	Ovary
COSM3724523	c.2001_2001delG	p.E668fs*106	Deletion - Frameshift	Ovary
COSM4188098	c.3580G>T	p.G1194W	Substitution - Missense	Kidney
COSM4411956	c.1757_1757delA	p.K586fs*27	Deletion - Frameshift	Ovary
COSM5572781	c.192C>G	p.Y64*	Substitution - Nonsense	Prostate
COSM383937	c.4936G>A	p.E1646K	Substitution - Missense	Skin
COSM3528403	c.66T>A	p.P22P	Substitution - coding silent	Skin
COSM5018604	c.2563G>A	p.V855I	Substitution - Missense	Soft_tissue
COSM5017567	c.2969delA	p.K991fs*28	Deletion - Frameshift	Soft_tissue
COSM4991220	c.809C>T	p.P270L	Substitution - Missense	Skin
COSM4408938	c.2738C>T	p.P913L	Substitution - Missense	Oesophagus
COSM4728291	c.2372C>T	p.A791V	Substitution - Missense	Large_intestine
COSM217157	c.3531C>A	p.D1177E	Substitution - Missense	Liver
COSM438522	c.4735G>T	p.E1579*	Substitution - Nonsense	Breast
COSM1161253	c.2918G>A	p.R973Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3756294	c.4584C>T	p.D1528D	Substitution - coding silent	Large_intestine
COSM1524017	c.2539C>T	p.Q847*	Substitution - Nonsense	Ovary
COSM474149	c.3379G>T	p.D1127Y	Substitution - Missense	Pancreas
COSM5610629	c.547C>T	p.Q183*	Substitution - Nonsense	Skin
COSM233449	c.4271C>T	p.P1424L	Substitution - Missense	Skin
COSM1237938	c.3230G>T	p.R1077L	Substitution - Missense	Thyroid
COSM3970686	c.2650C>A	p.H884N	Substitution - Missense	Central_nervous_system
COSM3735018	c.561C>G	p.Y187*	Substitution - Nonsense	Ovary
COSM438515	c.254C>T	p.S85L	Substitution - Missense	Upper_aerodigestive_tract
COSM4958128	c.1251C>T	p.R417R	Substitution - coding silent	Liver
COSM26904	c.1419+5G>T	p.?	Unknown	Pancreas
COSM1711825	c.2260C>T	p.L754F	Substitution - Missense	Skin
COSM3414025	c.3493C>T	p.L1165F	Substitution - Missense	Oesophagus
COSM4131185	c.1524T>C	p.H508H	Substitution - coding silent	Soft_tissue
COSM110492	c.2300C>T	p.S767F	Substitution - Missense	Central_nervous_system
COSM30618	c.3478G>C	p.G1160R	Substitution - Missense	Lung
COSM30574	c.589C>T	p.P197S	Substitution - Missense	Breast
COSM4940188	c.3203G>T	p.G1068V	Substitution - Missense	Liver
COSM1611528	c.3574C>G	p.R1192G	Substitution - Missense	Liver
COSM4770328	c.1583G>A	p.R528Q	Substitution - Missense	Adrenal_gland
COSM88673	c.3306C>G	p.F1102L	Substitution - Missense	Ovary
COSM352712	c.1812+1G>T	p.?	Unknown	Lung
COSM1266235	c.4243C>T	p.R1415*	Substitution - Nonsense	Biliary_tract
COSM1715926	c.3993_3993delC	p.K1332fs*26	Deletion - Frameshift	Liver
COSM30580	c.4007G>A	p.R1336H	Substitution - Missense	Large_intestine
COSM30583	c.?_?del?	p.?	Unknown	Lung
COSM5024877	c.2505G>A	p.K835K	Substitution - coding silent	Large_intestine
COSM4074066	c.4543C>T	p.R1515C	Substitution - Missense	Stomach
COSM30577	c.2653C>T	p.R885C	Substitution - Missense	Large_intestine
COSM5724322	c.233C>T	p.S78F	Substitution - Missense	Skin
COSM4074044	c.2967C>T	p.P989P	Substitution - coding silent	Stomach
COSM4154040	c.1118+1G>A	p.?	Unknown	Kidney
COSM1235811	c.416C>T	p.P139L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1226757	c.3380A>G	p.D1127G	Substitution - Missense	Large_intestine
COSM84489	c.3469C>T	p.R1157W	Substitution - Missense	Central_nervous_system
COSM3724491	c.3496C>T	p.Q1166*	Substitution - Nonsense	Ovary
COSM3388565	c.3236C>T	p.S1079L	Substitution - Missense	Pancreas
COSM4891252	c.2573C>T	p.T858M	Substitution - Missense	Upper_aerodigestive_tract
COSM5643547	c.1961G>A	p.R654K	Substitution - Missense	Oesophagus
COSM3735016	c.1378C>T	p.Q460*	Substitution - Nonsense	Ovary
COSM4980264	c.609G>A	p.A203A	Substitution - coding silent	Oesophagus
COSM4408938	c.2738C>T	p.P913L	Substitution - Missense	Large_intestine
COSM2813595	c.2085C>T	p.S695S	Substitution - coding silent	Bone
COSM3989667	c.2971A>G	p.K991E	Substitution - Missense	Kidney
COSM4653025	c.3998G>A	p.R1333Q	Substitution - Missense	Large_intestine
COSM990764	c.4559G>A	p.R1520H	Substitution - Missense	Endometrium
COSM1666643	c.?	p.T910M	Substitution - Missense	Ovary
COSM255312	c.3727C>T	p.R1243W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1161253	c.2918G>A	p.R973Q	Substitution - Missense	Stomach
COSM5610631	c.3169G>T	p.E1057*	Substitution - Nonsense	Skin
COSM4836626	c.2460C>A	p.Y820*	Substitution - Nonsense	Cervix
COSM1303975	c.2427C>T	p.I809I	Substitution - coding silent	Urinary_tract
COSM3388569	c.3922C>T	p.R1308W	Substitution - Missense	Pancreas
COSM5614597	c.2878G>T	p.E960*	Substitution - Nonsense	Lung
COSM30577	c.2653C>T	p.R885C	Substitution - Missense	Large_intestine
COSM176860	c.1959G>A	p.P653P	Substitution - coding silent	Large_intestine
COSM1266233	c.1352G>A	p.R451H	Substitution - Missense	Stomach
COSM3989673	c.3801C>A	p.G1267G	Substitution - coding silent	Kidney
COSM4580604	c.2455G>A	p.A819T	Substitution - Missense	Bone
COSM3724486	c.1626_1626delC	p.I542fs*71	Deletion - Frameshift	Ovary
COSM5365591	c.2616+2T>C	p.?	Unknown	Large_intestine
COSM2813495	c.500G>A	p.R167Q	Substitution - Missense	Large_intestine
COSM3989663	c.2646A>T	p.E882D	Substitution - Missense	Kidney
COSM335837	c.991C>T	p.Q331*	Substitution - Nonsense	Ovary
COSM990750	c.2758G>A	p.E920K	Substitution - Missense	Stomach
COSM2813607	c.2184G>A	p.L728L	Substitution - coding silent	Large_intestine
COSM4169311	c.?	p.L361fs*50	Unknown	Biliary_tract
COSM3528443	c.4403C>T	p.A1468V	Substitution - Missense	Skin
COSM1651766	c.2438+1G>T	p.?	Unknown	Soft_tissue
COSM3528443	c.4403C>T	p.A1468V	Substitution - Missense	Skin
COSM3970692	c.3502G>C	p.A1168P	Substitution - Missense	Central_nervous_system
COSM30578	c.479A>G	p.Q160R	Substitution - Missense	Pancreas
COSM990750	c.2758G>A	p.E920K	Substitution - Missense	Pancreas
COSM4074026	c.1616G>A	p.R539H	Substitution - Missense	Stomach
COSM4074062	c.4146A>G	p.S1382S	Substitution - coding silent	Stomach
COSM5718000	c.1902C>T	p.P634P	Substitution - coding silent	Skin
COSM3735021	c.3531_3531delC	p.W1178fs*38	Deletion - Frameshift	Ovary
COSM13921	c.2290T>A	p.W764R	Substitution - Missense	Lung
COSM215752	c.3694G>A	p.G1232S	Substitution - Missense	Kidney
COSM1303967	c.37C>T	p.R13W	Substitution - Missense	Urinary_tract
COSM30571	c.805delC	p.M272fs*31	Deletion - Frameshift	Lung
COSM710135	c.34C>T	p.P12S	Substitution - Missense	Lung
COSM255311	c.3304T>C	p.F1102L	Substitution - Missense	Pancreas
COSM990754	c.3356G>A	p.R1119H	Substitution - Missense	Bone
COSM4496973	c.4775C>T	p.S1592F	Substitution - Missense	Skin
COSM5741430	c.29G>A	p.G10E	Substitution - Missense	Small_intestine
COSM249607	c.3424T>G	p.F1142V	Substitution - Missense	Kidney
COSM4131185	c.1524T>C	p.H508H	Substitution - coding silent	Thyroid
COSM30586	c.1733_1761+40del69	p.?	Unknown	Lung
COSM3735028	c.2915T>C	p.L972P	Substitution - Missense	Ovary
COSM4749935	c.2428G>A	p.V810M	Substitution - Missense	Stomach
COSM4749932	c.1199C>T	p.A400V	Substitution - Missense	Stomach
COSM5986772	c.563A>T	p.K188M	Substitution - Missense	Salivary_gland
COSM1737873	c.3277C>T	p.R1093*	Substitution - Nonsense	Ovary
COSM255878	c.3694G>T	p.G1232C	Substitution - Missense	Kidney
COSM337520	c.1750A>T	p.K584*	Substitution - Nonsense	Lung
COSM4470935	c.168C>T	p.I56I	Substitution - coding silent	Skin
COSM4169434	c.?	p.P1344S	Substitution - Missense	Skin
COSM1194749	c.3703G>T	p.D1235Y	Substitution - Missense	Adrenal_gland
COSM1161251	c.2917C>T	p.R973W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5519605	c.1397G>A	p.R466H	Substitution - Missense	Biliary_tract
COSM255312	c.3727C>T	p.R1243W	Substitution - Missense	Pancreas
COSM255878	c.3694G>T	p.G1232C	Substitution - Missense	Central_nervous_system
COSM990750	c.2758G>A	p.E920K	Substitution - Missense	Endometrium
COSM4519065	c.945_946CC>TT	p.P316S	Substitution - Missense	Skin
COSM4991222	c.1901C>T	p.P634L	Substitution - Missense	Skin
COSM5718002	c.2650C>T	p.H884Y	Substitution - Missense	Skin
COSM1266235	c.4243C>T	p.R1415*	Substitution - Nonsense	Stomach
COSM1390246	c.1058delC	p.I355fs*56	Deletion - Frameshift	Large_intestine
COSM5881359	c.4319_4321delAGA	p.K1442delK	Deletion - In frame	Soft_tissue
COSM76524	c.2441C>A	p.T814K	Substitution - Missense	Ovary
COSM1266238	c.3575G>A	p.R1192H	Substitution - Missense	Skin
COSM255312	c.3727C>T	p.R1243W	Substitution - Missense	Kidney
COSM3528445	c.4410C>T	p.I1470I	Substitution - coding silent	Skin
COSM382691	c.2207A>G	p.H736R	Substitution - Missense	Lung

> Text Mining based Variations

[ TOP ]

PMID	Variation	Cancer	Evidence
22233809	mutation	Pancreatic Carcinoma	Notable among the alterations newly identified, genomic deletions, mutations, and rearrangements recurrently targeted genes encoding components of the SWItch/Sucrose NonFermentable (SWI/SNF) chromatin remodeling complex, including all three putative DNA binding subunits (ARID1A, ARID1B, and PBRM1) and both enzymatic subunits (SMARCA2 and SMARCA4).
23222069	mutation	Rare Rhabdoid Tumor; Medulloblastoma	Rare rhabdoid tumors have mutation in SMARCA4, a genetic abnormality also found in some medulloblastomas.
24682267	mutation	Mantle Cell Lymphoma	We further identified a number of novel genes recurrently mutated in patients with MCL including RB1, WHSC1, POT1, and SMARCA4.
24916674	mutation	Malignant Mesothelioma	Direct sequencing showed that homozygous mutations in SMARCA4, PBRM1 and ARID2 were somatic.
25370573	mutation	Lung Carcinoma	SMARCA4, the most frequently mutated BAF gene in lung cancer, was stably knocked down by pSUPER constructs carrying short hairpin RNA (shRNA).
25496315	mutation	Rhabdoid Tumor of the Kidney	We report, for the first time, co-inactivation and frequent mutations of SMARCB1, SMARCA2 and PBRM1 in MRTs.
26812616	mutation	Esophageal Squamous Cell Carcinoma	Deep sequencing of components of the SWI/SNF complex using a bench-top next generation sequencer revealed that eight of 92 ESCCs (8.7%) had 11 somatic mutations of 7 genes, ARID1A, ARID2, ATRX, PBRM1, SMARCA4, SMARCAL1, and SMARCC1.
27701467	mutation (loss of function)	Prostate Carcinoma	Further exploration of the shared variants in rest of the families revealed deleterious variants of the so-called cancer genes (ATP1A1, BRIP1, FANCA, FGFR3, FLT3, HOXD11, MUTYH, PDGFRA, SMARCA4, and TCF3).
27506935	mutation	Breast Carcinoma	Finally, we applied RWCFusion to breast cancer and found that top 13 gene fusions, such as BCAS3-BCAS4, NOTCH-NUP214, MED13-BCAS3 and CARM-SMARCA4, have been previously proved to be drivers for breast cancer.
27471560	mutation	Ovarian Small Cell Carcinoma, Hypercalcemic Type	Germline or somatic mutations in SMARCA4 in familial and sporadic small cell carcinoma of the ovary, hypercalcemia type, lead to our recognition on this rare aggressive tumor as a new entity of the atypical teratoma/rhaboid tumor family.
26975901	mutation	Ovarian Small Cell Carcinoma, Hypercalcemic Type	SCCOHT is caused by germline and somatic SMARCA4 mutations, but the effect of the mutation type on patients remains unknown.
26743474	loss of expression (mutation)	Endometrial Carcinoma	Immunohistochemical analysis confirmed the loss of SMARCA4 in the undifferentiated component of these four SMARCA4-mutated cases, whereas the corresponding low-grade endometrioid component showed retained SMARCA4 expression.
26664144	mutation; loss of expression	Lung Carcinoma	Brahma-related gene 1 (BRG1) has been implicated in a variety of biological processes, and it has been found to be mutated or silenced in numerous cancers, including lung cancer.
26646792	mutation (loss of function)	Ovarian Small Cell Carcinoma, Hypercalcemic Type	We confirmed that SMARCA4 is the only recurrently mutated gene in SCCOHT, and show that recurrent allelic imbalance is observed exclusively on chromosome 19p, where SMARCA4 resides. Furthermore, we conclude that SMARCA4 inactivation is the main cause of SCCOHT, and that new distinct therapeutic approaches should be developed to specifically target this devastating tumor.
26645725	loss of expression (mutation)	Ovarian Small Cell Carcinoma, Hypercalcemic Type	Studies to date have suggested that immunohistochemical loss of expression of SMARCA4 is associated with the presence of a SMARCA4 mutation in most cases.
26546963	mutation	Ovarian Small Cell Carcinoma, Hypercalcemic Type	SCCOHT has recently been shown to be associated with SMARCA4 gene mutations as well as molecular and genetic similarities to malignant rhabdoid tumors (MRT).
26473533	mutation	Diffuse Large B-Cell Lymphoma; Follicular Lymphoma; Burkitt Lymphoma	Here, we discuss the function of histone acetyltransferases (CREBBP, EP300), histone methyltransferases (KDM2C/D, EZH2) and regulators of higher order chromatin structure (HIST1H1C/D/E, ARID1A and SMARCA4) that have been reported to be mutated in 5% of DLBCL, FL or BL.
26356327	mutation (loss of function)	Ovarian Small Cell Carcinoma, Hypercalcemic Type	We and others recently discovered that over 90% of SCCOHTs harbour inactivating mutations in the chromatin remodelling gene SMARCA4 with concomitant loss of its encoded protein SMARCA4 (BRG1), one of two mutually exclusive ATPases of the SWI/SNF chromatin remodelling complex.
25886974	mutation	Ovarian Small Cell Carcinoma, Hypercalcemic Type	SMARCA4 mutations have recently been identified as driving lesions of the ovarian small cell carcinoma of hypercalcemic type (SCCHT).
25803323	mutation	Thyroid Gland Papillary Carcinoma	Using this approach we identified new missense mutations in CBL, NOTCH1, PIK3R4 and SMARCA4 genes.
25494491	mutation	Rhabdoid Tumor of the Kidney	Recently, mutations in a 2nd locus of the SWI/SNF complex, the SMARCA4 gene, also known as BRG1, were found in rhabdoid tumors with retention of SMARCB1 expression.
25462860	mutation	Gastric Carcinoma	Moreover, somatic mutations of additional chromatin remodelers, such as ARID1A, SMARCA2, and SMARCA4, were found in 30% of gastric cancers.
25190313	mutation	Wilms Tumor	Here we report the whole-exome sequencing of 44 Wilms tumours, identifying missense mutations in the microRNA (miRNA)-processing enzymes DROSHA and DICER1, and novel mutations in MYCN, SMARCA4 and ARID1A.
24867287	mutation	Burkitt Lymphoma	In addition, mutations in a number of genes including GNA13, TP53, and SMARCA4 occur in Burkitt lymphoma.
24752781	mutation	Ovarian Small Cell Carcinoma, Hypercalcemic Type	We conducted WES using three families with SCCOHT and identified deleterious mutations in the chromatin-remodelling gene SMARCA4 (encoding BRG1) in all cases.
24658001	mutation	Ovarian Small Cell Carcinoma, Hypercalcemic Type	We identified germline and somatic inactivating mutations in the SWI/SNF chromatin-remodeling gene SMARCA4 in 75% (9/12) of SCCOHT cases in addition to SMARCA4 protein loss in 82% (14/17) of SCCOHT tumors but in only 0.4% (2/485) of other primary ovarian tumors.
24520176	mutation	Lung Adenocarcinoma	Genetic alterations of the mSWI/SNF chromatin remodeling complexes are the most frequent among chromatin regulators in cancers, with BRG1/SMARCA4 mutations occurring in 10-15% of lung adenocarcinomas.
24445599	mutation	Lung Neoplasm; Non-Small Cell Lung Carcinoma	Recent sequencing efforts have shown mutations in BRG1 (SMARCA4), one of two mutually exclusive ATPase subunits in the complex, in a significant number of human lung tumor cell lines and primary non-small cell lung carcinoma (NSCLC) clinical specimens.
26942101	mutation (loss of function)	Ovarian Small Cell Carcinoma, Hypercalcemic Type	However, we and others have recently identified inactivating mutations in the SWI/SNF chromatin remodeling gene SMARCA4 with concomitant loss of SMARCA4 protein in the majority of SCCOHT tumors.(1-4) Here we summarize these findings and report SMARCA4 status by targeted sequencing and/or immunohistochemistry (IHC) in an additional 12 SCCOHT tumors, 3 matched germlines, and the cell line SCCOHT-1.
23880166	mutation	Atypical Teratoid/Rhabdoid Tumor	Atypical teratoid/rhabdoid tumor (AT/RT) is a rhabdoid tumor of the central nervous system comprising a mixture of small round cells and mesenchymal and/or epithelial elements, showing mutation of the SMARCB1 gene or SMARCA4 gene.
23163725	mutation	Lung Carcinoma; Lung Adenocarcinoma	Analysis of 15 lung cancer cell lines indicated that BRG1 mutations correlated with loss of BRG1 expression and that loss of BRG1 and BRM expression was frequent in E-cadherin-low and vimentin-high cell lines. Immunohistochemical analysis of 93 primary lung adenocarcinomas showed loss of BRG1 and BRM in 11 (12%) and 16 (17%) cases, respectively.
23143597	mutation	Burkitt Lymphoma	We identified 70 genes that were recurrently mutated in Burkitt lymphomas, including ID3, GNA13, RET, PIK3R1 and the SWI/SNF genes ARID1A and SMARCA4.
23088494	copy number loss; mutation	Hepatocellular Carcinoma	Homozygous deletion of the BRG1 gene was found in HCC cell line SNU398. Copy number losses of BRG1 and BRM genes were observed in 14 (26%) and 7 (13%) of 54 primary HCC tumours respectively. We found four somatic missense mutations in the BRG1 gene in two of 36 primary HCC tumours, but no mutations in BRM gene.
23033341	mutation; copy number change	Lung Carcinoma	A number of epigenetic regulators, including KDM6A, ASH1L, SMARCA4, and ATAD2, are frequently altered by mutations or copy number changes.
22832583	mutation	Medulloblastoma	Several recurrent mutations were identified, both in known medulloblastoma-related genes (CTNNB1, PTCH1, MLL2, SMARCA4) and in genes not previously linked to this tumour (DDX3X, CTDNEP1, KDM6A, TBR1), often in subgroup-specific patterns.
22820256	mutation	Medulloblastoma	We identified twelve genes mutated at statistically significant frequencies, including previously known mutated genes in medulloblastoma such as CTNNB1, PTCH1, MLL2, SMARCA4 and TP53.
22722829	mutation	Medulloblastoma	Recurrent mutations were detected in 41 genes not yet implicated in medulloblastoma; several target distinct components of the epigenetic machinery in different disease subgroups, such as regulators of H3K27 and H3K4 trimethylation in subgroups 3 and 4 (for example, KDM6A and ZMYM3), and CTNNB1-associated chromatin re-modellers in WNT-subgroup tumours (for example, SMARCA4 and CREBBP).
21566516	loss of expression (mutation)	Atypical Teratoid/Rhabdoid Tumor	Instead, the tumor showed loss of protein expression of another SWI/SNF chromatin-remodeling complex member, the ATPase subunit SMARCA4 (BRG1) due to a homozygous SMARCA4 mutation [c.2032C>T (p.Q678X)].
20137775	mutation	Rhabdoid Tumor	We identified inactivation of another member of the SWI/SNF chromatin-remodeling complex, its ATPase subunit SMARCA4 (also known as BRG1), due to a SMARCA4/BRG1 germline mutation and loss of heterozygosity by uniparental disomy in the tumor cells of two sisters with rhabdoid tumors lacking SMARCB1 mutations.

Summary
Symbol	SMARCA4
Name	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
Aliases	hSNF2b; BRG1; SNF2-BETA; FLJ39786; SNF2-like 4; sucrose nonfermenting-like 4; mitotic growth and transcripti ......
Location	19p13.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Post-translational modification (PTM)

> Post-translational modification (PTM)

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Filter By:

Uniprot ID	Position	Amino Acid	Description	Upstream Enzyme	Affected By Mutation	Amino Acid Sequence Variant
P51532	188	K	N6-acetyllysine	-	No	None detected
P51532	353	T	Phosphothreonine	-	Yes	p.T353fs (cancer: COAD)
P51532	609	T	Phosphothreonine	-	No	None detected
P51532	610	S	Phosphoserine	-	No	None detected
P51532	613	S	Phosphoserine	-	No	None detected
P51532	695	S	Phosphoserine	-	No	None detected
P51532	699	S	Phosphoserine	-	No	None detected
P51532	1382	S	Phosphoserine	-	No	None detected
P51532	1423	T	Phosphothreonine	-	No	None detected
P51532	1452	S	Phosphoserine	-	No	None detected
P51532	1570	S	Phosphoserine	-	No	None detected
P51532	1575	S	Phosphoserine	-	No	None detected
P51532	1586	S	Phosphoserine	-	No	None detected
P51532	1627	S	Phosphoserine	-	No	None detected
P51532	1631	S	Phosphoserine	-	No	None detected

Summary
Symbol	SMARCA4
Name	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
Aliases	hSNF2b; BRG1; SNF2-BETA; FLJ39786; SNF2-like 4; sucrose nonfermenting-like 4; mitotic growth and transcripti ......
Location	19p13.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Expression analysis in primary tumor tissue from TCGA > Expression level in cancer cell line from CCLE > Expression level in human normal tissue from HPA > Text mining based expression change

> The Cancer Genome Atlas (TCGA)

[ TOP ]

Differential expression analysis for cancers with more than 10 normal samples

Cancer	Full Name	# N	# T	Median (N)	Median (T)	LogFC	Adj. P	Status
BLCA	Bladder urothelial carcinoma	19	408	7.008	7.747	0.668	1.64e-06	Over
BRCA	Breast invasive carcinoma	112	1100	6.527	7.455	1.002	1.72e-67	Over
CESC	Cervical and endocervical cancers	3	306	6.418	7.55	NA	NA	NA
COAD	Colon adenocarcinoma	41	459	7.131	7.699	0.62	3.3e-11	Over
ESCA	Esophageal carcinoma	11	185	6.924	7.612	0.408	0.0638	NS
GBM	Glioblastoma multiforme	5	166	7.741	7.301	NA	NA	NA
HNSC	Head and Neck squamous cell carcinoma	44	522	7.456	7.434	-0.031	0.733	NS
KIRC	Kidney renal clear cell carcinoma	72	534	7.066	6.649	-0.407	1.53e-14	NS
KIRP	Kidney renal papillary cell carcinoma	32	291	7.363	7.427	0.039	0.627	NS
LAML	Acute Myeloid Leukemia	0	173	NA	7.69	NA	NA	NA
LGG	Brain Lower Grade Glioma	0	530	NA	7.693	NA	NA	NA
LIHC	Liver hepatocellular carcinoma	50	373	5.145	6.075	0.937	4.11e-25	Over
LUAD	Lung adenocarcinoma	59	517	7.036	7.362	0.332	0.00516	NS
LUSC	Lung squamous cell carcinoma	51	501	6.941	7.468	0.595	2.07e-07	Over
OV	Ovarian serous cystadenocarcinoma	0	307	NA	7.808	NA	NA	NA
PAAD	Pancreatic adenocarcinoma	4	179	6.909	6.985	NA	NA	NA
PCPG	Pheochromocytoma and Paraganglioma	3	184	7.059	7.352	NA	NA	NA
PRAD	Prostate adenocarcinoma	52	498	7.062	7.577	0.598	3.09e-25	Over
READ	Rectum adenocarcinoma	10	167	7.016	7.664	0.901	4.62e-06	Over
SARC	Sarcoma	2	263	6.806	7.027	NA	NA	NA
SKCM	Skin Cutaneous Melanoma	1	472	7.499	7.776	NA	NA	NA
STAD	Stomach adenocarcinoma	35	415	6.958	7.378	0.465	2.85e-05	NS
TGCT	Testicular Germ Cell Tumors	0	156	NA	8.32	NA	NA	NA
THCA	Thyroid carcinoma	59	509	6.881	7.559	0.656	7.85e-38	Over
THYM	Thymoma	2	120	7.967	8.004	NA	NA	NA
UCEC	Uterine Corpus Endometrial Carcinoma	35	546	6.992	8.313	1.44	9.36e-32	Over

> Cancer Cell Line Encyclopedia (CCLE)

[ TOP ]

Tissue	Cell Line	Expression Level (Microarray)
Autonomic ganglia	CHP126	11
Autonomic ganglia	CHP212	10.1
Autonomic ganglia	IMR32	10.8
Autonomic ganglia	KELLY	10.6
Autonomic ganglia	KPNRTBM1	11
Autonomic ganglia	KPNSI9S	9.7
Autonomic ganglia	KPNYN	10.5
Autonomic ganglia	MHHNB11	10.2
Autonomic ganglia	NB1	10.8
Autonomic ganglia	NH6	10.2
Autonomic ganglia	SHSY5Y	10.3
Autonomic ganglia	SIMA	11.1
Autonomic ganglia	SKNAS	9.7
Autonomic ganglia	SKNBE2	10.6
Autonomic ganglia	SKNDZ	10.1
Autonomic ganglia	SKNFI	8.5
Autonomic ganglia	SKNSH	9.4
Biliary tract	HUCCT1	8.9
Biliary tract	HUH28	9.1
Biliary tract	SNU1079	9.8
Biliary tract	SNU1196	9.2
Biliary tract	SNU245	9.2
Biliary tract	SNU308	8.9
Biliary tract	SNU478	10.2
Bone	143B	9.5
Bone	A673	10.1
Bone	CADOES1	10.3
Bone	CAL78	8.7
Bone	G292CLONEA141B1	9.9
Bone	HOS	9.3
Bone	HS706T	8.2
Bone	HS737T	8.4
Bone	HS819T	8.4
Bone	HS821T	8.3
Bone	HS822T	8.2
Bone	HS863T	8.8
Bone	HS870T	8.2
Bone	HS888T	9.2
Bone	MG63	9.8
Bone	MHHES1	10.1
Bone	OUMS27	9.2
Bone	RDES	9.9
Bone	SJSA1	9.3
Bone	SKES1	10.1
Bone	SKNMC	10.6
Bone	SW1353	9
Bone	T173	8
Bone	TC71	9.7
Bone	U2OS	9.1
Breast	AU565	8.8
Breast	BT20	9.1
Breast	BT474	10.4
Breast	BT483	9.1
Breast	BT549	9.6
Breast	CAL120	9.7
Breast	CAL148	10.6
Breast	CAL51	10.5
Breast	CAL851	8.6
Breast	CAMA1	9.6
Breast	DU4475	9.5
Breast	EFM192A	9
Breast	EFM19	9.9
Breast	EVSAT	9.7
Breast	HCC1143	9.1
Breast	HCC1187	10.5
Breast	HCC1395	9.2
Breast	HCC1419	9.9
Breast	HCC1428	8.7
Breast	HCC1500	9.3
Breast	HCC1569	9.6
Breast	HCC1599	9.9
Breast	HCC1806	9.6
Breast	HCC1937	9.1
Breast	HCC1954	9.2
Breast	HCC202	9.2
Breast	HCC2157	9.9
Breast	HCC2218	9.5
Breast	HCC38	9.4
Breast	HCC70	9.4
Breast	HDQP1	10.2
Breast	HMC18	9.3
Breast	HS274T	8.5
Breast	HS281T	8.8
Breast	HS343T	9
Breast	HS578T	9
Breast	HS606T	8.5
Breast	HS739T	8.5
Breast	HS742T	8.1
Breast	JIMT1	8.9
Breast	KPL1	10.2
Breast	MCF7	9.7
Breast	MDAMB134VI	8.7
Breast	MDAMB157	8.5
Breast	MDAMB175VII	9.1
Breast	MDAMB231	9.2
Breast	MDAMB361	9.7
Breast	MDAMB415	8.6
Breast	MDAMB436	9
Breast	MDAMB453	9.6
Breast	MDAMB468	9.7
Breast	SKBR3	9.2
Breast	T47D	8.8
Breast	UACC812	9.5
Breast	UACC893	9.2
Breast	YMB1	9.5
Breast	ZR751	8.4
Breast	ZR7530	9.5
Central nervous system	1321N1	9.1
Central nervous system	42MGBA	9.1
Central nervous system	8MGBA	8.5
Central nervous system	A172	9.6
Central nervous system	AM38	9.5
Central nervous system	BECKER	9.2
Central nervous system	CAS1	9.2
Central nervous system	CCFSTTG1	9.1
Central nervous system	D283MED	10.6
Central nervous system	D341MED	9.8
Central nervous system	DAOY	9.9
Central nervous system	DBTRG05MG	8.9
Central nervous system	DKMG	8.7
Central nervous system	GAMG	6
Central nervous system	GB1	9.9
Central nervous system	GI1	10
Central nervous system	GMS10	8.7
Central nervous system	GOS3	9.2
Central nervous system	H4	9.1
Central nervous system	HS683	9
Central nervous system	KALS1	8.9
Central nervous system	KG1C	8.8
Central nervous system	KNS42	9.4
Central nervous system	KNS60	8.8
Central nervous system	KNS81	9.7
Central nervous system	KS1	9.2
Central nervous system	LN18	9.2
Central nervous system	LN229	8.6
Central nervous system	M059K	8.9
Central nervous system	MOGGCCM	8.9
Central nervous system	MOGGUVW	9.4
Central nervous system	NMCG1	8.8
Central nervous system	ONS76	9.8
Central nervous system	SF126	8.5
Central nervous system	SF295	9.7
Central nervous system	SNB19	8.4
Central nervous system	SNU1105	9.4
Central nervous system	SNU201	9.2
Central nervous system	SNU466	9.2
Central nervous system	SNU489	9.5
Central nervous system	SNU626	9.5
Central nervous system	SNU738	9.2
Central nervous system	SW1088	9
Central nervous system	SW1783	8.4
Central nervous system	T98G	9
Central nervous system	TM31	8.7
Central nervous system	U118MG	9.7
Central nervous system	U138MG	9.9
Central nervous system	U251MG	9
Central nervous system	U87MG	9
Central nervous system	YH13	8.9
Central nervous system	YKG1	9.7
Endometrium	AN3CA	10.3
Endometrium	COLO684	11.2
Endometrium	EFE184	9
Endometrium	EN	9.6
Endometrium	ESS1	9
Endometrium	HEC108	9.6
Endometrium	HEC151	9.4
Endometrium	HEC1A	8.8
Endometrium	HEC1B	9.7
Endometrium	HEC251	8.9
Endometrium	HEC265	9.1
Endometrium	HEC50B	9.3
Endometrium	HEC59	9.3
Endometrium	HEC6	9.3
Endometrium	ISHIKAWAHERAKLIO02ER	9.7
Endometrium	JHUEM1	9.6
Endometrium	JHUEM2	10.2
Endometrium	JHUEM3	9.4
Endometrium	KLE	9
Endometrium	MFE280	8.6
Endometrium	MFE296	10
Endometrium	MFE319	9.1
Endometrium	RL952	9.4
Endometrium	SNGM	10.8
Endometrium	SNU1077	9.6
Endometrium	SNU685	9.8
Endometrium	TEN	9.8
Haematopoietic and lymphoid	697	10.9
Haematopoietic and lymphoid	A3KAW	9.8
Haematopoietic and lymphoid	A4FUK	9.7
Haematopoietic and lymphoid	ALLSIL	10.8
Haematopoietic and lymphoid	AML193	9.5
Haematopoietic and lymphoid	AMO1	10.4
Haematopoietic and lymphoid	BCP1	10.4
Haematopoietic and lymphoid	BDCM	9.2
Haematopoietic and lymphoid	BL41	11.1
Haematopoietic and lymphoid	BL70	10.9
Haematopoietic and lymphoid	BV173	10.1
Haematopoietic and lymphoid	CA46	10.2
Haematopoietic and lymphoid	CI1	9.9
Haematopoietic and lymphoid	CMK115	10.1
Haematopoietic and lymphoid	CMK86	10.3
Haematopoietic and lymphoid	CMK	9.9
Haematopoietic and lymphoid	CMLT1	10.2
Haematopoietic and lymphoid	COLO775	10.3
Haematopoietic and lymphoid	DAUDI	10.5
Haematopoietic and lymphoid	DB	11.3
Haematopoietic and lymphoid	DEL	9
Haematopoietic and lymphoid	DND41	10.2
Haematopoietic and lymphoid	DOHH2	10.9
Haematopoietic and lymphoid	EB1	9.8
Haematopoietic and lymphoid	EB2	10
Haematopoietic and lymphoid	EHEB	9.3
Haematopoietic and lymphoid	EJM	9.6
Haematopoietic and lymphoid	EM2	10
Haematopoietic and lymphoid	EOL1	10.5
Haematopoietic and lymphoid	F36P	11
Haematopoietic and lymphoid	GA10	10.7
Haematopoietic and lymphoid	GDM1	9
Haematopoietic and lymphoid	GRANTA519	10.3
Haematopoietic and lymphoid	HDLM2	9.2
Haematopoietic and lymphoid	HDMYZ	9.7
Haematopoietic and lymphoid	HEL9217	10.3
Haematopoietic and lymphoid	HEL	10.3
Haematopoietic and lymphoid	HH	9.8
Haematopoietic and lymphoid	HL60	10.2
Haematopoietic and lymphoid	HPBALL	10.7
Haematopoietic and lymphoid	HS604T	8.7
Haematopoietic and lymphoid	HS611T	9.4
Haematopoietic and lymphoid	HS616T	8.5
Haematopoietic and lymphoid	HS751T	8.2
Haematopoietic and lymphoid	HT	10.2
Haematopoietic and lymphoid	HTK	9.9
Haematopoietic and lymphoid	HUNS1	9.7
Haematopoietic and lymphoid	HUT102	8.7
Haematopoietic and lymphoid	HUT78	8.6
Haematopoietic and lymphoid	JEKO1	11
Haematopoietic and lymphoid	JK1	9.2
Haematopoietic and lymphoid	JM1	10
Haematopoietic and lymphoid	JURKAT	10.4
Haematopoietic and lymphoid	JURLMK1	10.1
Haematopoietic and lymphoid	JVM2	8.9
Haematopoietic and lymphoid	JVM3	9.2
Haematopoietic and lymphoid	K562	9.5
Haematopoietic and lymphoid	KARPAS299	8.9
Haematopoietic and lymphoid	KARPAS422	9.4
Haematopoietic and lymphoid	KARPAS620	10.4
Haematopoietic and lymphoid	KASUMI1	9.2
Haematopoietic and lymphoid	KASUMI2	10.9
Haematopoietic and lymphoid	KASUMI6	9.9
Haematopoietic and lymphoid	KCL22	9.7
Haematopoietic and lymphoid	KE37	10.2
Haematopoietic and lymphoid	KE97	9.1
Haematopoietic and lymphoid	KG1	9.6
Haematopoietic and lymphoid	KHM1B	10.1
Haematopoietic and lymphoid	KIJK	9.3
Haematopoietic and lymphoid	KMH2	10
Haematopoietic and lymphoid	KMM1	9.9
Haematopoietic and lymphoid	KMS11	9.7
Haematopoietic and lymphoid	KMS12BM	9.6
Haematopoietic and lymphoid	KMS18	9.6
Haematopoietic and lymphoid	KMS20	10
Haematopoietic and lymphoid	KMS21BM	9.7
Haematopoietic and lymphoid	KMS26	9.3
Haematopoietic and lymphoid	KMS27	9.7
Haematopoietic and lymphoid	KMS28BM	9.7
Haematopoietic and lymphoid	KMS34	9.8
Haematopoietic and lymphoid	KO52	9.5
Haematopoietic and lymphoid	KOPN8	10.8
Haematopoietic and lymphoid	KU812	10.5
Haematopoietic and lymphoid	KYO1	10.1
Haematopoietic and lymphoid	L1236	9.7
Haematopoietic and lymphoid	L363	9.4
Haematopoietic and lymphoid	L428	9.5
Haematopoietic and lymphoid	L540	10.1
Haematopoietic and lymphoid	LAMA84	9.8
Haematopoietic and lymphoid	LOUCY	9.9
Haematopoietic and lymphoid	LP1	9.4
Haematopoietic and lymphoid	M07E	10.2
Haematopoietic and lymphoid	MC116	10.4
Haematopoietic and lymphoid	ME1	10
Haematopoietic and lymphoid	MEC1	9.3
Haematopoietic and lymphoid	MEC2	10.1
Haematopoietic and lymphoid	MEG01	10.3
Haematopoietic and lymphoid	MHHCALL2	10.4
Haematopoietic and lymphoid	MHHCALL3	10.7
Haematopoietic and lymphoid	MHHCALL4	10.8
Haematopoietic and lymphoid	MINO	10.3
Haematopoietic and lymphoid	MJ	9.8
Haematopoietic and lymphoid	MM1S	9.6
Haematopoietic and lymphoid	MOLM13	10.1
Haematopoietic and lymphoid	MOLM16	11.8
Haematopoietic and lymphoid	MOLM6	10.4
Haematopoietic and lymphoid	MOLP2	8.9
Haematopoietic and lymphoid	MOLP8	9.7
Haematopoietic and lymphoid	MOLT13	10.5
Haematopoietic and lymphoid	MOLT16	9.7
Haematopoietic and lymphoid	MOLT4	9.9
Haematopoietic and lymphoid	MONOMAC1	9.4
Haematopoietic and lymphoid	MONOMAC6	9.9
Haematopoietic and lymphoid	MOTN1	10.2
Haematopoietic and lymphoid	MUTZ5	11
Haematopoietic and lymphoid	MV411	10.7
Haematopoietic and lymphoid	NALM19	10.2
Haematopoietic and lymphoid	NALM1	10.6
Haematopoietic and lymphoid	NALM6	10.6
Haematopoietic and lymphoid	NAMALWA	10.7
Haematopoietic and lymphoid	NB4	9.9
Haematopoietic and lymphoid	NCIH929	9
Haematopoietic and lymphoid	NCO2	10.3
Haematopoietic and lymphoid	NOMO1	9.4
Haematopoietic and lymphoid	NUDHL1	9.6
Haematopoietic and lymphoid	NUDUL1	10.6
Haematopoietic and lymphoid	OCIAML2	9.7
Haematopoietic and lymphoid	OCIAML3	9.9
Haematopoietic and lymphoid	OCIAML5	10.4
Haematopoietic and lymphoid	OCILY10	9.7
Haematopoietic and lymphoid	OCILY19	10.9
Haematopoietic and lymphoid	OCILY3	9.2
Haematopoietic and lymphoid	OCIM1	11.1
Haematopoietic and lymphoid	OPM2	9.9
Haematopoietic and lymphoid	P12ICHIKAWA	10.9
Haematopoietic and lymphoid	P31FUJ	9
Haematopoietic and lymphoid	P3HR1	10.2
Haematopoietic and lymphoid	PCM6	9.5
Haematopoietic and lymphoid	PEER	10.1
Haematopoietic and lymphoid	PF382	10.9
Haematopoietic and lymphoid	PFEIFFER	10.5
Haematopoietic and lymphoid	PL21	9.3
Haematopoietic and lymphoid	RAJI	10.2
Haematopoietic and lymphoid	RCHACV	10.7
Haematopoietic and lymphoid	REC1	10
Haematopoietic and lymphoid	REH	10.2
Haematopoietic and lymphoid	RI1	11.4
Haematopoietic and lymphoid	RL	10.2
Haematopoietic and lymphoid	RPMI8226	9.9
Haematopoietic and lymphoid	RPMI8402	10.8
Haematopoietic and lymphoid	RS411	9.8
Haematopoietic and lymphoid	SEM	10
Haematopoietic and lymphoid	SET2	10.7
Haematopoietic and lymphoid	SIGM5	9.6
Haematopoietic and lymphoid	SKM1	9.6
Haematopoietic and lymphoid	SKMM2	9.3
Haematopoietic and lymphoid	SR786	8.9
Haematopoietic and lymphoid	ST486	10.3
Haematopoietic and lymphoid	SUDHL10	10.7
Haematopoietic and lymphoid	SUDHL1	9.7
Haematopoietic and lymphoid	SUDHL4	11.4
Haematopoietic and lymphoid	SUDHL5	10.4
Haematopoietic and lymphoid	SUDHL6	10.9
Haematopoietic and lymphoid	SUDHL8	10.4
Haematopoietic and lymphoid	SUPB15	10.3
Haematopoietic and lymphoid	SUPHD1	9.2
Haematopoietic and lymphoid	SUPM2	9.3
Haematopoietic and lymphoid	SUPT11	9.9
Haematopoietic and lymphoid	SUPT1	10.4
Haematopoietic and lymphoid	TALL1	10.3
Haematopoietic and lymphoid	TF1	10.3
Haematopoietic and lymphoid	THP1	9.3
Haematopoietic and lymphoid	TO175T	8.8
Haematopoietic and lymphoid	TOLEDO	9.5
Haematopoietic and lymphoid	U266B1	10.3
Haematopoietic and lymphoid	U937	9.5
Haematopoietic and lymphoid	UT7	11.3
Haematopoietic and lymphoid	WSUDLCL2	10.8
Kidney	769P	9.6
Kidney	786O	9.6
Kidney	A498	9.1
Kidney	A704	7.7
Kidney	ACHN	9
Kidney	BFTC909	9.4
Kidney	CAKI1	8.6
Kidney	CAKI2	9.3
Kidney	CAL54	9.4
Kidney	KMRC1	8.6
Kidney	KMRC20	8.1
Kidney	KMRC2	9.4
Kidney	KMRC3	8.6
Kidney	OSRC2	8.8
Kidney	RCC10RGB	8.9
Kidney	SNU1272	9.6
Kidney	SNU349	9.1
Kidney	TUHR10TKB	8.7
Kidney	TUHR14TKB	9.3
Kidney	TUHR4TKB	9
Kidney	VMRCRCW	8.7
Kidney	VMRCRCZ	9.5
Large intestine	C2BBE1	9
Large intestine	CCK81	9.4
Large intestine	CL11	9.3
Large intestine	CL14	9.8
Large intestine	CL34	9.5
Large intestine	CL40	9.8
Large intestine	COLO205	9.3
Large intestine	COLO320	10.1
Large intestine	COLO678	9.4
Large intestine	CW2	10
Large intestine	DLD1	9.5
Large intestine	GP2D	9.4
Large intestine	HCC56	9.4
Large intestine	HCT116	9.1
Large intestine	HCT15	10
Large intestine	HS675T	8.6
Large intestine	HS698T	8.8
Large intestine	HT115	9.6
Large intestine	HT29	9.1
Large intestine	HT55	9.5
Large intestine	KM12	8.4
Large intestine	LOVO	9.3
Large intestine	LS1034	9.5
Large intestine	LS123	9.3
Large intestine	LS180	9.6
Large intestine	LS411N	9.2
Large intestine	LS513	9.1
Large intestine	MDST8	9.8
Large intestine	NCIH508	8.7
Large intestine	NCIH716	9.1
Large intestine	NCIH747	9.3
Large intestine	OUMS23	9.1
Large intestine	RCM1	8.6
Large intestine	RKO	8.7
Large intestine	SKCO1	9.6
Large intestine	SNU1040	9.6
Large intestine	SNU1197	9.2
Large intestine	SNU175	9.3
Large intestine	SNU283	9.5
Large intestine	SNU407	8.8
Large intestine	SNU503	9.3
Large intestine	SNU61	9.2
Large intestine	SNU81	9.6
Large intestine	SNUC1	9.7
Large intestine	SNUC2A	8.8
Large intestine	SNUC4	9.7
Large intestine	SNUC5	9.4
Large intestine	SW1116	9
Large intestine	SW1417	9.6
Large intestine	SW1463	9.7
Large intestine	SW403	9.2
Large intestine	SW480	8.5
Large intestine	SW48	9.8
Large intestine	SW620	9.8
Large intestine	SW837	8.1
Large intestine	SW948	9.7
Large intestine	T84	9.5
Liver	ALEXANDERCELLS	5.7
Liver	C3A	8.8
Liver	HEP3B217	10.2
Liver	HEPG2	8.9
Liver	HLE	9
Liver	HLF	9.1
Liver	HUH1	9.2
Liver	HUH6	9.1
Liver	HUH7	9.4
Liver	JHH1	9.2
Liver	JHH2	9.6
Liver	JHH4	9.4
Liver	JHH5	9.6
Liver	JHH6	8.3
Liver	JHH7	9.9
Liver	LI7	9.2
Liver	PLCPRF5	5.8
Liver	SKHEP1	6.1
Liver	SNU182	9.7
Liver	SNU387	8.6
Liver	SNU398	10.4
Liver	SNU423	9.4
Liver	SNU449	9.4
Liver	SNU475	9
Liver	SNU761	10.1
Liver	SNU878	8.4
Liver	SNU886	9.5
Lung	A549	5.6
Lung	ABC1	9.2
Lung	BEN	9.6
Lung	CAL12T	8.6
Lung	CALU1	9.4
Lung	CALU3	8.7
Lung	CALU6	9.7
Lung	CHAGOK1	8.7
Lung	COLO668	9.4
Lung	COLO699	9.8
Lung	CORL105	9.5
Lung	CORL23	9.8
Lung	CORL24	9.8
Lung	CORL279	11.1
Lung	CORL311	10.1
Lung	CORL47	9.8
Lung	CORL51	10.4
Lung	CORL88	9.8
Lung	CORL95	9.4
Lung	CPCN	10.2
Lung	DMS114	6.1
Lung	DMS153	9.7
Lung	DMS273	10.1
Lung	DMS454	8.6
Lung	DMS53	8.8
Lung	DMS79	10.5
Lung	DV90	9.4
Lung	EBC1	8
Lung	EPLC272H	9.1
Lung	HARA	9.3
Lung	HCC1171	9.3
Lung	HCC1195	8.2
Lung	HCC15	6
Lung	HCC2279	10.2
Lung	HCC2935	10.1
Lung	HCC33	10
Lung	HCC366	6.1
Lung	HCC4006	9.2
Lung	HCC44	9.2
Lung	HCC78	9.1
Lung	HCC827	10
Lung	HCC95	8.4
Lung	HLC1	9.5
Lung	HLFA	8.7
Lung	HS229T	8.7
Lung	HS618T	8.7
Lung	IALM	9.4
Lung	KNS62	8.8
Lung	LC1F	9.7
Lung	LC1SQSF	8.6
Lung	LCLC103H	8.8
Lung	LCLC97TM1	9.6
Lung	LK2	10
Lung	LOUNH91	9.2
Lung	LU65	8.9
Lung	LU99	9.2
Lung	LUDLU1	8.3
Lung	LXF289	9.3
Lung	MORCPR	9.6
Lung	NCIH1048	9.9
Lung	NCIH1092	10
Lung	NCIH1105	10.4
Lung	NCIH1155	9.8
Lung	NCIH1184	9.8
Lung	NCIH1299	6.4
Lung	NCIH1339	6.8
Lung	NCIH1341	9.7
Lung	NCIH1355	6.1
Lung	NCIH1373	8.7
Lung	NCIH1385	10
Lung	NCIH1395	9.2
Lung	NCIH1435	9
Lung	NCIH1436	10
Lung	NCIH1437	9.5
Lung	NCIH146	10.6
Lung	NCIH1563	8.9
Lung	NCIH1568	6.1
Lung	NCIH1573	6.3
Lung	NCIH1581	6.6
Lung	NCIH1618	10.4
Lung	NCIH1623	8.7
Lung	NCIH1648	8.8
Lung	NCIH1650	9.5
Lung	NCIH1651	8.6
Lung	NCIH1666	8.9
Lung	NCIH1693	6.6
Lung	NCIH1694	9.7
Lung	NCIH1703	7.8
Lung	NCIH1734	8.9
Lung	NCIH1755	8.6
Lung	NCIH1781	10.1
Lung	NCIH1792	9.4
Lung	NCIH1793	5.8
Lung	NCIH1836	10.1
Lung	NCIH1838	8.4
Lung	NCIH1869	8.7
Lung	NCIH1876	9.7
Lung	NCIH1915	8.7
Lung	NCIH1930	9.8
Lung	NCIH1944	4.7
Lung	NCIH1963	10.2
Lung	NCIH196	9.1
Lung	NCIH1975	9.9
Lung	NCIH2009	9.2
Lung	NCIH2023	5.7
Lung	NCIH2029	9.7
Lung	NCIH2030	4.3
Lung	NCIH2066	11.5
Lung	NCIH2081	10.2
Lung	NCIH2085	6.3
Lung	NCIH2087	7.9
Lung	NCIH209	10.2
Lung	NCIH2106	9.9
Lung	NCIH2110	8.8
Lung	NCIH211	10.2
Lung	NCIH2122	9.1
Lung	NCIH2126	9.4
Lung	NCIH2141	10.6
Lung	NCIH2170	9.7
Lung	NCIH2171	10.6
Lung	NCIH2172	8.8
Lung	NCIH2196	9.6
Lung	NCIH2227	9.8
Lung	NCIH2228	9.2
Lung	NCIH226	8.9
Lung	NCIH2286	9.8
Lung	NCIH2291	8.8
Lung	NCIH2342	8.9
Lung	NCIH2347	8.9
Lung	NCIH23	6.8
Lung	NCIH2405	7.9
Lung	NCIH2444	9.3
Lung	NCIH292	8.8
Lung	NCIH322	4.7
Lung	NCIH3255	10.1
Lung	NCIH358	8.9
Lung	NCIH441	9.5
Lung	NCIH446	9.6
Lung	NCIH460	9.1
Lung	NCIH510	9.9
Lung	NCIH520	10.1
Lung	NCIH522	7.1
Lung	NCIH524	10.5
Lung	NCIH526	10.1
Lung	NCIH596	8.8
Lung	NCIH647	8.5
Lung	NCIH650	9
Lung	NCIH661	6.1
Lung	NCIH69	10.2
Lung	NCIH727	10.1
Lung	NCIH810	9.7
Lung	NCIH82	10.1
Lung	NCIH838	8
Lung	NCIH841	6.2
Lung	NCIH854	10.3
Lung	NCIH889	10.1
Lung	PC14	9.2
Lung	RERFLCAD1	8.9
Lung	RERFLCAD2	6.4
Lung	RERFLCAI	6.1
Lung	RERFLCKJ	4.4
Lung	RERFLCMS	8.7
Lung	RERFLCSQ1	8.5
Lung	SBC5	6.1
Lung	SCLC21H	10.8
Lung	SHP77	10
Lung	SKLU1	9.6
Lung	SKMES1	8.3
Lung	SQ1	8.9
Lung	SW1271	9.7
Lung	SW1573	9
Lung	SW900	8.7
Lung	VMRCLCD	10.2
Lung	VMRCLCP	9.3
Oesophagus	COLO680N	8.6
Oesophagus	ECGI10	8.7
Oesophagus	KYSE140	10
Oesophagus	KYSE150	8.9
Oesophagus	KYSE180	9.7
Oesophagus	KYSE270	10.2
Oesophagus	KYSE30	9
Oesophagus	KYSE410	9.5
Oesophagus	KYSE450	8.7
Oesophagus	KYSE510	9.2
Oesophagus	KYSE520	9.1
Oesophagus	KYSE70	9
Oesophagus	OE19	9
Oesophagus	OE33	8.4
Oesophagus	TE10	9.4
Oesophagus	TE11	8.8
Oesophagus	TE14	8.9
Oesophagus	TE15	8.5
Oesophagus	TE1	8.6
Oesophagus	TE4	8.8
Oesophagus	TE5	8.7
Oesophagus	TE6	9.8
Oesophagus	TE8	10.4
Oesophagus	TE9	9
Oesophagus	TT	8.7
Ovary	59M	9.6
Ovary	A2780	10.2
Ovary	CAOV3	8.9
Ovary	CAOV4	8.6
Ovary	COLO704	10.9
Ovary	COV318	10.3
Ovary	COV362	8.3
Ovary	COV434	6.7
Ovary	COV504	8.6
Ovary	COV644	8.1
Ovary	EFO21	10.1
Ovary	EFO27	9.4
Ovary	ES2	9.3
Ovary	FUOV1	9.8
Ovary	HEYA8	8.6
Ovary	HS571T	8.3
Ovary	IGROV1	9.9
Ovary	JHOC5	4.6
Ovary	JHOM1	8.7
Ovary	JHOM2B	9.4
Ovary	JHOS2	8.4
Ovary	JHOS4	8.1
Ovary	KURAMOCHI	9.5
Ovary	MCAS	8.8
Ovary	NIHOVCAR3	8.7
Ovary	OAW28	9.4
Ovary	OAW42	9.9
Ovary	OC314	9.5
Ovary	OC316	9.3
Ovary	ONCODG1	9.2
Ovary	OV56	8.6
Ovary	OV7	8.7
Ovary	OV90	9
Ovary	OVCAR4	9.8
Ovary	OVCAR8	9.8
Ovary	OVISE	9.7
Ovary	OVK18	6.9
Ovary	OVKATE	8.4
Ovary	OVMANA	8.2
Ovary	OVSAHO	10.4
Ovary	OVTOKO	8.5
Ovary	RMGI	8.8
Ovary	RMUGS	7.9
Ovary	SKOV3	9.2
Ovary	SNU119	9.6
Ovary	SNU840	8.7
Ovary	SNU8	9
Ovary	TOV112D	6.8
Ovary	TOV21G	9.9
Ovary	TYKNU	5.6
Pancreas	ASPC1	8.4
Pancreas	BXPC3	8.6
Pancreas	CAPAN1	8.7
Pancreas	CAPAN2	5.1
Pancreas	CFPAC1	8.2
Pancreas	DANG	9.4
Pancreas	HPAC	9.1
Pancreas	HPAFII	8.9
Pancreas	HS766T	8.8
Pancreas	HUPT3	9.6
Pancreas	HUPT4	9.3
Pancreas	KCIMOH1	8.4
Pancreas	KLM1	9.1
Pancreas	KP2	8.6
Pancreas	KP3	8.4
Pancreas	KP4	4.9
Pancreas	L33	9
Pancreas	MIAPACA2	10.2
Pancreas	PANC0203	8.9
Pancreas	PANC0213	9.2
Pancreas	PANC0327	8.8
Pancreas	PANC0403	8.5
Pancreas	PANC0504	8.9
Pancreas	PANC0813	8.8
Pancreas	PANC1005	9.3
Pancreas	PANC1	6.2
Pancreas	PATU8902	9
Pancreas	PATU8988S	8.3
Pancreas	PATU8988T	5
Pancreas	PK1	8.4
Pancreas	PK45H	8.8
Pancreas	PK59	9.5
Pancreas	PL45	8.7
Pancreas	PSN1	9.6
Pancreas	QGP1	9.8
Pancreas	SNU213	8.9
Pancreas	SNU324	9.6
Pancreas	SNU410	8.9
Pancreas	SU8686	9.2
Pancreas	SUIT2	8.6
Pancreas	SW1990	8.6
Pancreas	T3M4	8.5
Pancreas	TCCPAN2	9.3
Pancreas	YAPC	9.8
Pleura	ACCMESO1	8
Pleura	DM3	9.1
Pleura	ISTMES1	10.3
Pleura	ISTMES2	9.1
Pleura	JL1	9.7
Pleura	MPP89	8.7
Pleura	MSTO211H	9
Pleura	NCIH2052	8.7
Pleura	NCIH2452	9.1
Pleura	NCIH28	9.3
Prostate	22RV1	9.1
Prostate	DU145	6.2
Prostate	LNCAPCLONEFGC	9
Prostate	MDAPCA2B	9.7
Prostate	NCIH660	9.8
Prostate	PC3	9.4
Prostate	VCAP	8.9
Salivary gland	A253	8.6
Salivary gland	YD15	9
Skin	A101D	9.1
Skin	A2058	9.7
Skin	A375	10.2
Skin	C32	9
Skin	CHL1	10
Skin	CJM	8.7
Skin	COLO679	9.4
Skin	COLO741	9.5
Skin	COLO783	9.3
Skin	COLO792	9.2
Skin	COLO800	9.3
Skin	COLO818	8.5
Skin	COLO829	9.4
Skin	COLO849	10.2
Skin	G361	9.1
Skin	GRM	10.2
Skin	HMCB	9.9
Skin	HS294T	9.3
Skin	HS600T	8.4
Skin	HS688AT	8.6
Skin	HS695T	8.8
Skin	HS839T	8.7
Skin	HS852T	9
Skin	HS895T	8.2
Skin	HS934T	8.6
Skin	HS936T	9.1
Skin	HS939T	9.1
Skin	HS940T	8.7
Skin	HS944T	9
Skin	HT144	9.2
Skin	IGR1	9.4
Skin	IGR37	9.8
Skin	IGR39	9.6
Skin	IPC298	9.6
Skin	K029AX	9.6
Skin	LOXIMVI	8.7
Skin	MALME3M	8.5
Skin	MDAMB435S	8.5
Skin	MELHO	9.5
Skin	MELJUSO	9.3
Skin	MEWO	9.3
Skin	RPMI7951	8.8
Skin	RVH421	9.1
Skin	SH4	9.4
Skin	SKMEL1	9.4
Skin	SKMEL24	9
Skin	SKMEL28	9.4
Skin	SKMEL2	9.2
Skin	SKMEL30	9.4
Skin	SKMEL31	9
Skin	SKMEL3	9.1
Skin	SKMEL5	6.1
Skin	UACC257	9.8
Skin	UACC62	9.9
Skin	WM115	9.1
Skin	WM1799	8.9
Skin	WM2664	9.7
Skin	WM793	9.3
Skin	WM88	8.9
Skin	WM983B	8.8
Small intestine	HUTU80	7
Soft tissue	A204	9.2
Soft tissue	G401	10.4
Soft tissue	G402	9.6
Soft tissue	GCT	8.8
Soft tissue	HS729	9.2
Soft tissue	HT1080	9.2
Soft tissue	KYM1	9.8
Soft tissue	MESSA	10
Soft tissue	RD	10.4
Soft tissue	RH30	10.5
Soft tissue	RH41	9.9
Soft tissue	RKN	8.6
Soft tissue	S117	9.8
Soft tissue	SJRH30	10.1
Soft tissue	SKLMS1	9
Soft tissue	SKUT1	9.5
Soft tissue	TE125T	8
Soft tissue	TE159T	8.7
Soft tissue	TE441T	9.6
Soft tissue	TE617T	6.7
Stomach	2313287	8.1
Stomach	AGS	9.4
Stomach	AZ521	6.8
Stomach	ECC10	10.4
Stomach	ECC12	10
Stomach	FU97	8.7
Stomach	GCIY	6.4
Stomach	GSS	9.2
Stomach	GSU	9.1
Stomach	HGC27	10.8
Stomach	HS746T	8.8
Stomach	HUG1N	8.9
Stomach	IM95	9.1
Stomach	KATOIII	8.6
Stomach	KE39	8.7
Stomach	LMSU	9.2
Stomach	MKN1	9.7
Stomach	MKN45	10.1
Stomach	MKN74	8.9
Stomach	MKN7	9.8
Stomach	NCCSTCK140	9.3
Stomach	NCIN87	9.7
Stomach	NUGC2	9
Stomach	NUGC3	8.8
Stomach	NUGC4	8.6
Stomach	OCUM1	9.4
Stomach	RERFGC1B	9.1
Stomach	SH10TC	9.1
Stomach	SNU16	9.8
Stomach	SNU1	9.4
Stomach	SNU216	9.4
Stomach	SNU520	9.7
Stomach	SNU5	9.3
Stomach	SNU601	9.7
Stomach	SNU620	9.1
Stomach	SNU668	9.3
Stomach	SNU719	9.6
Stomach	TGBC11TKB	9.5
Thyroid	8305C	9.2
Thyroid	8505C	9.2
Thyroid	BCPAP	9.2
Thyroid	BHT101	9.1
Thyroid	CAL62	9.5
Thyroid	CGTHW1	9.2
Thyroid	FTC133	10.1
Thyroid	FTC238	8.7
Thyroid	ML1	8.4
Thyroid	SW579	9.4
Thyroid	TT2609C02	9.8
Thyroid	TT	10.2
Upper aerodigestive tract	BHY	9.5
Upper aerodigestive tract	BICR16	9
Upper aerodigestive tract	BICR18	8.9
Upper aerodigestive tract	BICR22	9
Upper aerodigestive tract	BICR31	8.5
Upper aerodigestive tract	BICR56	8.9
Upper aerodigestive tract	BICR6	9.2
Upper aerodigestive tract	CAL27	8.6
Upper aerodigestive tract	CAL33	9.1
Upper aerodigestive tract	DETROIT562	8.8
Upper aerodigestive tract	FADU	8.2
Upper aerodigestive tract	HS840T	8.9
Upper aerodigestive tract	HSC2	9
Upper aerodigestive tract	HSC3	8.6
Upper aerodigestive tract	HSC4	8.5
Upper aerodigestive tract	PECAPJ15	8.4
Upper aerodigestive tract	PECAPJ34CLONEC12	8.9
Upper aerodigestive tract	PECAPJ41CLONED2	8.6
Upper aerodigestive tract	PECAPJ49	9.2
Upper aerodigestive tract	SCC15	8.4
Upper aerodigestive tract	SCC25	9.8
Upper aerodigestive tract	SCC4	9.1
Upper aerodigestive tract	SCC9	8.5
Upper aerodigestive tract	SNU1076	7.7
Upper aerodigestive tract	SNU1214	9.1
Upper aerodigestive tract	SNU46	10.1
Upper aerodigestive tract	SNU899	8.7
Upper aerodigestive tract	YD10B	8.4
Upper aerodigestive tract	YD38	9.1
Upper aerodigestive tract	YD8	9.4
Urinary tract	5637	9.8
Urinary tract	639V	10.2
Urinary tract	647V	9.4
Urinary tract	BC3C	9.2
Urinary tract	BFTC905	10.8
Urinary tract	CAL29	8.5
Urinary tract	HS172T	8.5
Urinary tract	HT1197	8.6
Urinary tract	HT1376	8.8
Urinary tract	J82	9
Urinary tract	JMSU1	10.5
Urinary tract	KMBC2	8.5
Urinary tract	KU1919	9.4
Urinary tract	RT11284	9.5
Urinary tract	RT112	9.4
Urinary tract	RT4	9.3
Urinary tract	SCABER	8.8
Urinary tract	SW1710	9.7
Urinary tract	SW780	8.3
Urinary tract	T24	9
Urinary tract	TCCSUP	8.6
Urinary tract	UMUC1	9.3
Urinary tract	UMUC3	6.7
Urinary tract	VMCUB1	8.8

> The Human Protein Atlas (HPA)

[ TOP ]

Tissue	Expression Level (TPM)
Adipose tissue	10.5
Adrenal gland	13.5
Appendix	23.6
Bone marrow	12.8
Breast	9.3
Cerebral cortex	34.4
Cervix, uterine	15.9
Colon	12.9
Duodenum	13.7
Endometrium	16.2
Epididymis	6.6
Esophagus	23.5
Fallopian tube	22.3
Gallbladder	14.3
Heart muscle	6.9
Kidney	11.2
Liver	2.5
Lung	18.4
Lymph node	20.8
Ovary	12.6
Pancreas	2.7
Parathyroid gland	24.7
Placenta	18.9
Prostate	16.2
Rectum	9.4
Salivary gland	6.1
Seminal vesicle	14.7
Skeletal muscle	6.3
Skin	23
Small intestine	14.2
Smooth muscle	13.6
Spleen	18.4
Stomach	13.2
Testis	39.5
Thyroid gland	22.9
Tonsil	14.6
Urinary bladder	13.9

> Text Mining based Expression

[ TOP ]

PMID	Expression	Cancer	Evidence
27656868	loss of expression	Endometrial Carcinoma	SMARCA4 expression was intact in 26 of 40 (65%); lost in 13 of 40 (32.5%) cases and unassessable in 1 case (2.5%).
27223259	overexpression	Breast Carcinoma	BRG1 is a well-characterized tumor suppressor in some human cancers, but is frequently overexpressed without mutation in other cancers, including breast cancer.
27145366	underexpression	Colon Carcinoma	In a previous work, we have reported that decreased BRG1 could promote colon cancer cell migration and invasion, and that the BRG1 expression level is negatively correlated with lymphatic metastasis.
27100627	loss of expression	Ovarian Small Cell Carcinoma, Hypercalcemic Type	Fifty-four of the SCCOHT cases showed complete absence of SMARCA4 expression.
27029062	overexpression	Breast Carcinoma	BRG1 is overexpressed in most human breast cancer tumors without evidence of mutation and is required for breast cancer cell proliferation.
26996667	overexpression	Neuroblastoma	We found that the SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a, member 4 (SMARCA4/BRG1) was consistently upregulated in advanced stages of NB, with high BRG1 levels being indicative of poor outcome.
26743474	loss of expression (mutation)	Endometrial Carcinoma	Immunohistochemical analysis confirmed the loss of SMARCA4 in the undifferentiated component of these four SMARCA4-mutated cases, whereas the corresponding low-grade endometrioid component showed retained SMARCA4 expression.
26664144	mutation; loss of expression	Lung Carcinoma	Brahma-related gene 1 (BRG1) has been implicated in a variety of biological processes, and it has been found to be mutated or silenced in numerous cancers, including lung cancer.
26645725	loss of expression (mutation)	Ovarian Small Cell Carcinoma, Hypercalcemic Type	Studies to date have suggested that immunohistochemical loss of expression of SMARCA4 is associated with the presence of a SMARCA4 mutation in most cases.
26551623	loss of expression	Digestive System Carcinoma	In total, 12/13 cases (92%) showed loss of at least 1 SWI/SNF component. Loss of SMARCB1 (5/13), SMARCA2 (10/13), SMARCA4 (2/13), and ARID1A (2/13) was observed either in combination or isolated.
26123103	loss of expression	Ovarian Small Cell Carcinoma, Hypercalcemic Type	All tumors showed complete loss of SMARCA4.
25808524	overexpression	Breast Carcinoma	Here, we report that both BRG1 and BRM are overexpressed in most primary breast cancers independent of the tumor's receptor status.
25355421	loss of expression	Lung Carcinoma	In this report, we found that the loss of expression of SMARCA4 observed in some primary lung tumors, whose mechanism was largely unknown, can be explained, at least partially by the activity of microRNAs (miRNAs).
24953335	overexpression	Pancreatic Ductal Adenocarcinoma	Here, we reported that BRG1, a chromatin modulator, was exclusively overexpressed in human pancreatic ductal adenocarcinoma tissues.
24658004	loss of expression	Ovarian Small Cell Carcinoma, Hypercalcemic Type	Protein studies confirmed loss of SMARCA4 expression, suggesting a key role for the SWI/SNF chromatin-remodeling complex in SCCOHT.
24658002	loss of expression	Ovarian Small Cell Carcinoma, Hypercalcemic Type	Immunohistochemical analysis of these cases and additional familial and non-familial cases showed loss of SMARCA4 (BRG1) protein in 38 of 40 tumors overall.
24375037	loss of expression	Ovarian Small Cell Carcinoma, Hypercalcemic Type	INI-1 expression was retained, while that of SMARCA4 was lost.
23872584	underexpression	Non-Small Cell Lung Carcinoma	Immunohistochemical analysis of a cohort of non-small-cell lung carcinomas (NSCLC) indicated that 15.5% (16 of 103) of the cohort, corresponding to preferentially undifferentiated tumors, was deficient in BRG1 expression.
23349796	overexpression	Melanoma	Immunohistochemistry showed high expression of both BRM and BRG1 in primary melanomas.
22362300	overexpression	Glioma	Our results showed that BRG1 expression was increased in benign tumor and malignant tumor compared with tumor adjacent normal brain tissue (P < 0.01 for both).
21940037	underexpression	Pancreatic Intraductal Papillary Mucinous Neoplasm, Pancreatobiliary-Type	Reduced Brg1 expression was observed in 32 (53.3%) of the 60 evaluable IPMN lesions and occurred more frequently in high-grade IPMNs (13 of 17 showed loss; 76%) compared to intermediate-grade (15 of 29 showed loss; 52%) and low-grade IPMNs (4 of 14 showed loss; 28%) (P = .03).
21566516	loss of expression (mutation)	Atypical Teratoid/Rhabdoid Tumor	Instead, the tumor showed loss of protein expression of another SWI/SNF chromatin-remodeling complex member, the ATPase subunit SMARCA4 (BRG1) due to a homozygous SMARCA4 mutation [c.2032C>T (p.Q678X)].
21102582	overexpression	Colorectal Carcinoma	Expression of BRG1, but not BRM, was frequently elevated in CRC specimens, and knockdown of BRG1 suppressed cell proliferation of DLD-1 cells.
21092585	overexpression	Prostate Carcinoma	The average immuno-reactive score for BRG1 expression in prostatic cancer tissues was significantly higher than that in benign prostatic tissues (57+/-9.8 and 19+/-4.1, respectively, P = 0.000 17).
20969766	overexpression	Melanoma	BRG1 mRNA levels were significantly higher in stage IV melanomas compared to stage III tumors and to normal skin.
20491765	overexpression	Melanoma	We found that BRG1 expression was increased in primary melanoma and metastatic melanoma compared with dysplastic naevi (P<0·0001).
27339451	loss of expression	Urothelial Carcinoma	SMARCA2 was most frequently lost (six) followed by ARID1A (four), SMARCB1/INI1 (two), SMARCA4 (one), and SMARCC1 (one).
27764136	loss of expression	Clear Cell Renal Cell Carcinoma	We found that 49/160 (31%), 81/160 (51%), 23/160 (14%), 24/160 (15%), and 61/160 (38%) of ccRCC showed loss of expression of PBRM1, ARID1A, SETD2, BRG1, and BRM, respectively, and that IHC could successfully detect a high prevalence of ITH.
28038711	Loss of Expression	Pulmonary Squamous Cell Carcinoma	Complete loss of SMARCA4 was observed in 8 (5.5%) of 146 evaluable pulmonary ADCAs and 6 (5.2%) of 115 evaluable pulmonary SCCs, whereas 9 (6.4%) of 140 ADCAs and 2 (1.7%) of 117 SCCs showed SMARCA2 loss.
27852072	Overexpression	Colon Carcinoma	In the clinical analysis, overexpression of BRG1 correlates with colon cancer progression in two cohorts (n = 191 and n = 75). Kaplan-Meier survival analysis revealed that BRG1 is a prognosis predictor for overall survival (P < 0.001) and disease-free survival (P = 0.001).
27764136	Loss of Expression	Renal Cell Carcinoma	We found that 49/160 (31%), 81/160 (51%), 23/160 (14%), 24/160 (15%), and 61/160 (38%) of ccRCC showed loss of expression of PBRM1, ARID1A, SETD2, BRG1, and BRM, respectively, and that IHC could successfully detect a high prevalence of ITH.

Summary
Symbol	SMARCA4
Name	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
Aliases	hSNF2b; BRG1; SNF2-BETA; FLJ39786; SNF2-like 4; sucrose nonfermenting-like 4; mitotic growth and transcripti ......
Location	19p13.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Somatic copy number alteration in primary tomur tissue

> The Cancer Genome Atlas (TCGA)

[ TOP ]

Correlation between expression and SCNA as well as percentage of patients in different status.

Cancer	Full Name	# Sample	R	P	% Loss	% Neutral	% Gain	Status
BLCA	Bladder urothelial carcinoma	404	0.47	1.37e-23	29	51.5	19.6	Neutral
BRCA	Breast invasive carcinoma	1075	0.457	1.19e-56	21.7	59.2	19.2	Neutral
CESC	Cervical and endocervical cancers	292	0.539	2.27e-23	27.4	58.6	14	Neutral
COAD	Colon adenocarcinoma	449	0.35	2.27e-14	10.2	73.9	15.8	Neutral
ESCA	Esophageal carcinoma	183	0.451	1.45e-10	41.5	43.7	14.8	Loss
GBM	Glioblastoma multiforme	147	0.261	0.00139	9.5	54.4	36.1	Gain
HNSC	Head and Neck squamous cell carcinoma	514	0.49	2.2e-32	21	66.7	12.3	Neutral
KIRC	Kidney renal clear cell carcinoma	525	0.074	0.092	2.7	88.4	9	Neutral
KIRP	Kidney renal papillary cell carcinoma	288	0.32	2.81e-08	6.6	91.3	2.1	Neutral
LAML	Acute Myeloid Leukemia	166	0.369	9.93e-07	1.8	95.2	3	Neutral
LGG	Brain Lower Grade Glioma	513	0.128	0.00378	3.5	73.3	23.2	Neutral
LIHC	Liver hepatocellular carcinoma	364	0.362	1.1e-12	21.7	64.3	14	Neutral
LUAD	Lung adenocarcinoma	512	0.395	1.52e-20	52.3	43.6	4.1	Loss
LUSC	Lung squamous cell carcinoma	498	0.423	4.4e-23	38.8	41.2	20.1	Loss
OV	Ovarian serous cystadenocarcinoma	300	0.723	1.05e-49	33	25	42	Gain
PAAD	Pancreatic adenocarcinoma	177	0.37	4.1e-07	15.3	76.3	8.5	Neutral
PCPG	Pheochromocytoma and Paraganglioma	162	0.419	2.89e-08	0.6	86.4	13	Neutral
PRAD	Prostate adenocarcinoma	491	0.321	2.96e-13	5.7	92.5	1.8	Neutral
READ	Rectum adenocarcinoma	164	0.376	7.22e-07	16.5	63.4	20.1	Neutral
SARC	Sarcoma	255	0.618	2.82e-28	10.6	47.5	42	Gain
SKCM	Skin Cutaneous Melanoma	367	0.385	2.09e-14	23.4	60.2	16.3	Neutral
STAD	Stomach adenocarcinoma	413	0.422	3.07e-19	31	58.6	10.4	Neutral
TGCT	Testicular Germ Cell Tumors	150	0.481	4.84e-10	31.3	43.3	25.3	Neutral
THCA	Thyroid carcinoma	497	0.335	1.81e-14	1.4	97.2	1.4	Neutral
THYM	Thymoma	119	0.09	0.33	3.4	94.1	2.5	Neutral
UCEC	Uterine Corpus Endometrial Carcinoma	537	0.453	1.66e-28	10.4	73	16.6	Neutral

Summary
Symbol	SMARCA4
Name	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
Aliases	hSNF2b; BRG1; SNF2-BETA; FLJ39786; SNF2-like 4; sucrose nonfermenting-like 4; mitotic growth and transcripti ......
Location	19p13.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Methylation level in the promoter region of CR

> Methylation level in the promoter region of CR

[ TOP ]

Correlation between expression and methylation as well as differential methylation analysis.

Cancer	Full Name	R	P	# N	# T	Delta beta (T vs N)	P value (T vs N)	Status
BLCA	Bladder urothelial carcinoma	-0.165	0.000656	17	408	0	0.974	NS/NA
BRCA	Breast invasive carcinoma	-0.171	3.96e-07	83	785	-0.012	5.48e-06	NS/NA
CESC	Cervical and endocervical cancers	-0.234	3.42e-05	3	306	NA	NA	NS/NA
COAD	Colon adenocarcinoma	-0.129	0.0221	19	297	0.001	0.0323	NS/NA
ESCA	Esophageal carcinoma	-0.18	0.012	9	185	NA	NA	NS/NA
GBM	Glioblastoma multiforme	-0.253	0.0427	1	64	NA	NA	NS/NA
HNSC	Head and Neck squamous cell carcinoma	-0.111	0.00945	20	522	0	0.21	NS/NA
KIRC	Kidney renal clear cell carcinoma	-0.142	0.00833	24	319	0.006	0.0193	NS/NA
KIRP	Kidney renal papillary cell carcinoma	-0.153	0.00836	23	275	0	0.793	NS/NA
LAML	Acute Myeloid Leukemia	-0.12	0.118	0	170	NA	NA	NS/NA
LGG	Brain Lower Grade Glioma	-0.135	0.00192	0	530	NA	NA	NS/NA
LIHC	Liver hepatocellular carcinoma	-0.225	4.06e-06	41	373	0	0.471	NS/NA
LUAD	Lung adenocarcinoma	-0.139	0.00244	21	456	-0.005	0.35	NS/NA
LUSC	Lung squamous cell carcinoma	-0.122	0.0178	8	370	NA	NA	NS/NA
OV	Ovarian serous cystadenocarcinoma	-0.567	0.121	0	9	NA	NA	NS/NA
PAAD	Pancreatic adenocarcinoma	-0.259	0.000426	4	179	NA	NA	NS/NA
PCPG	Pheochromocytoma and Paraganglioma	-0.143	0.0516	3	184	NA	NA	NS/NA
PRAD	Prostate adenocarcinoma	-0.139	0.00128	35	498	0	0.436	NS/NA
READ	Rectum adenocarcinoma	-0.238	0.0165	2	99	NA	NA	NS/NA
SARC	Sarcoma	-0.214	0.000479	0	263	NA	NA	NS/NA
SKCM	Skin Cutaneous Melanoma	-0.155	0.000734	1	471	NA	NA	NS/NA
STAD	Stomach adenocarcinoma	-0.178	0.000584	0	372	NA	NA	NS/NA
TGCT	Testicular Germ Cell Tumors	-0.531	0	0	156	NA	NA	NS/NA
THCA	Thyroid carcinoma	-0.116	0.00608	50	509	-0.002	0.0537	NS/NA
THYM	Thymoma	-0.197	0.0297	2	120	NA	NA	NS/NA
UCEC	Uterine Corpus Endometrial Carcinoma	-0.145	0.00179	34	431	-0.002	0.324	NS/NA

Summary
Symbol	SMARCA4
Name	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
Aliases	hSNF2b; BRG1; SNF2-BETA; FLJ39786; SNF2-like 4; sucrose nonfermenting-like 4; mitotic growth and transcripti ......
Location	19p13.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Primary tumor tissue from TCGA > Normal tumor tissue from HPA

>The Cancer Genome Atlas (TCGA) [ TOP ]
There is no record.

> The Human Protein Atlas (HPA)

[ TOP ]

Tissue	Level	Level Name
Adrenal gland	3	High
Appendix	3	High
Bone marrow	3	High
Breast	3	High
Bronchus	3	High
Caudate	3	High
Cerebellum	3	High
Cerebral cortex	3	High
Cervix, uterine	3	High
Colon	3	High
Duodenum	3	High
Endometrium	3	High
Epididymis	3	High
Esophagus	3	High
Fallopian tube	3	High
Gallbladder	3	High
Heart muscle	2	Medium
Hippocampus	3	High
Kidney	3	High
Liver	2	Medium
Lung	3	High
Lymph node	3	High
Nasopharynx	3	High
Oral mucosa	3	High
Ovary	2	Medium
Pancreas	3	High
Parathyroid gland	2	Medium
Placenta	3	High
Prostate	3	High
Rectum	3	High
Salivary gland	3	High
Seminal vesicle	2	Medium
Skeletal muscle	3	High
Skin	3	High
Small intestine	3	High
Smooth muscle	2	Medium
Soft tissue	3	High
Spleen	3	High
Stomach	3	High
Testis	3	High
Thyroid gland	3	High
Tonsil	3	High
Urinary bladder	3	High

Summary
Symbol	SMARCA4
Name	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
Aliases	hSNF2b; BRG1; SNF2-BETA; FLJ39786; SNF2-like 4; sucrose nonfermenting-like 4; mitotic growth and transcripti ......
Location	19p13.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Association between expresson and subtype > Overall survival analysis based on expression > Association between expresson and stage > Association between expresson and grade

> Subtype

[ TOP ]

Association between expresson and subtype.

Cancer	Full Name	# Patients	P Value (Kruskal-Wallis)	Association	Source
BLCA	Bladder urothelial carcinoma	128	0.0545	NS	24476821
BRCA	Breast invasive carcinoma	521	4.61e-15	Significant	23000897
COAD	Colon adenocarcinoma	149	0.222	NS	22810696
GBM	Glioblastoma multiforme	157	5.81e-09	Significant	26824661
HNSC	Head and Neck squamous cell carcinoma	279	1.43e-05	Significant	25631445
KIRP	Kidney renal papillary cell carcinoma	161	0.241	NS	26536169
LGG	Brain Lower Grade Glioma	513	6.36e-05	Significant	26824661
LUAD	Lung adenocarcinoma	230	0.0852	NS	25079552
LUSC	Lung squamous cell carcinoma	178	0.805	NS	22960745
OV	Ovarian serous cystadenocarcinoma	287	1.84e-05	Significant	21720365
PRAD	Prostate adenocarcinoma	333	0.00401	Significant	26544944
READ	Rectum adenocarcinoma	67	0.673	NS	22810696
SKCM	Skin Cutaneous Melanoma	315	0.0214	Significant	26091043
STAD	Stomach adenocarcinoma	277	0.0182	Significant	25079317
THCA	Thyroid carcinoma	391	2.71e-11	Significant	25417114
UCEC	Uterine Corpus Endometrial Carcinoma	232	0.131	NS	23636398

> Overall survival

[ TOP ]

Overall survival analysis based on expression.

Cancer	Full Name	# Patients	Hazard Ratio	P Value (Log Rank Test)	Association
BLCA	Bladder urothelial carcinoma	405	1.282	0.226	NS
BRCA	Breast invasive carcinoma	1079	1.188	0.436	NS
CESC	Cervical and endocervical cancers	291	0.91	0.781	NS
COAD	Colon adenocarcinoma	439	1.104	0.729	NS
ESCA	Esophageal carcinoma	184	0.722	0.311	NS
GBM	Glioblastoma multiforme	158	0.842	0.495	NS
HNSC	Head and Neck squamous cell carcinoma	518	0.678	0.0427	Longer
KIRC	Kidney renal clear cell carcinoma	531	1.295	0.213	NS
KIRP	Kidney renal papillary cell carcinoma	287	0.515	0.0912	NS
LAML	Acute Myeloid Leukemia	149	1.144	0.656	NS
LGG	Brain Lower Grade Glioma	511	0.558	0.0271	Longer
LIHC	Liver hepatocellular carcinoma	365	1.532	0.0706	NS
LUAD	Lung adenocarcinoma	502	0.86	0.466	NS
LUSC	Lung squamous cell carcinoma	494	0.849	0.411	NS
OV	Ovarian serous cystadenocarcinoma	303	0.945	0.792	NS
PAAD	Pancreatic adenocarcinoma	177	0.724	0.274	NS
PCPG	Pheochromocytoma and Paraganglioma	179	696131360.09	0.128	NS
PRAD	Prostate adenocarcinoma	497	550010767.862	0.124	NS
READ	Rectum adenocarcinoma	159	0.756	0.618	NS
SARC	Sarcoma	259	1.941	0.0224	Shorter
SKCM	Skin Cutaneous Melanoma	459	2.234	1.55e-05	Shorter
STAD	Stomach adenocarcinoma	388	0.513	0.00466	Longer
TGCT	Testicular Germ Cell Tumors	134	0.499	0.562	NS
THCA	Thyroid carcinoma	500	1.079	0.907	NS
THYM	Thymoma	119	0.147	0.055	NS
UCEC	Uterine Corpus Endometrial Carcinoma	543	0.565	0.0529	NS

> Stage

[ TOP ]

Association between expresson and stage.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
BLCA	Bladder urothelial carcinoma	406	-0.103	0.0374	Lower
BRCA	Breast invasive carcinoma	1071	0.032	0.301	NS
CESC	Cervical and endocervical cancers	167	0.125	0.108	NS
COAD	Colon adenocarcinoma	445	0.037	0.433	NS
ESCA	Esophageal carcinoma	162	-0.212	0.00674	Lower
HNSC	Head and Neck squamous cell carcinoma	448	0.009	0.846	NS
KIRC	Kidney renal clear cell carcinoma	531	0.012	0.789	NS
KIRP	Kidney renal papillary cell carcinoma	260	0.012	0.843	NS
LIHC	Liver hepatocellular carcinoma	347	0.136	0.0111	Higher
LUAD	Lung adenocarcinoma	507	-0.002	0.961	NS
LUSC	Lung squamous cell carcinoma	497	0.027	0.555	NS
OV	Ovarian serous cystadenocarcinoma	302	-0.05	0.386	NS
PAAD	Pancreatic adenocarcinoma	176	-0.142	0.0608	NS
READ	Rectum adenocarcinoma	156	-0.005	0.95	NS
SKCM	Skin Cutaneous Melanoma	410	-0.092	0.0614	NS
STAD	Stomach adenocarcinoma	392	-0.1	0.0475	Lower
TGCT	Testicular Germ Cell Tumors	81	-0.113	0.317	NS
THCA	Thyroid carcinoma	499	0.137	0.00214	Higher
UCEC	Uterine Corpus Endometrial Carcinoma	501	-0.025	0.581	NS

> Grade

[ TOP ]

Association between expresson and grade.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
CESC	Cervical and endocervical cancers	272	0.046	0.452	NS
HNSC	Head and Neck squamous cell carcinoma	498	0.098	0.0281	Higher
KIRC	Kidney renal clear cell carcinoma	525	0.103	0.0188	Higher
LGG	Brain Lower Grade Glioma	514	0.057	0.194	NS
LIHC	Liver hepatocellular carcinoma	366	0.17	0.00107	Higher
OV	Ovarian serous cystadenocarcinoma	296	0.043	0.46	NS
PAAD	Pancreatic adenocarcinoma	176	0.032	0.676	NS
STAD	Stomach adenocarcinoma	406	-0.142	0.00407	Lower
UCEC	Uterine Corpus Endometrial Carcinoma	534	0.034	0.437	NS

Summary
Symbol	SMARCA4
Name	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
Aliases	hSNF2b; BRG1; SNF2-BETA; FLJ39786; SNF2-like 4; sucrose nonfermenting-like 4; mitotic growth and transcripti ......
Location	19p13.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Targets inferred by reverse engineering method > Targets identified by ChIP-seq data

> Targets inferred by reverse engineering method [ TOP ]

> Targets identified by ChIP-seq data [ TOP ]

Summary
Symbol	SMARCA4
Name	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
Aliases	hSNF2b; BRG1; SNF2-BETA; FLJ39786; SNF2-like 4; sucrose nonfermenting-like 4; mitotic growth and transcripti ......
Location	19p13.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Drugs from DrugBank database

> Drugs from DrugBank database [ TOP ]
There is no record for SMARCA4.

Summary
Symbol	SMARCA4
Name	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
Aliases	hSNF2b; BRG1; SNF2-BETA; FLJ39786; SNF2-like 4; sucrose nonfermenting-like 4; mitotic growth and transcripti ......
Location	19p13.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Protein-Protein Interaction Network > miRNA Regulatory Relationship > Interactions from Text Mining

> Protein-Protein Interaction Network [ TOP ]

> miRNA Regulatory Relationship [ TOP ]

> Interactions from Text Mining

[ TOP ]

PMID	Cancer	Hierarchy	Gene	Relation to CR	Evidence
27506935	Breast Carcinoma	partner	CARM	Fusion	Finally, we applied RWCFusion to breast cancer and found that top 13 gene fusions, such as BCAS3-BCAS4, NOTCH-NUP214, MED13-BCAS3 and CARM-SMARCA4, have been previously proved to be drivers for breast cancer.
26743474	Endometrial Carcinoma	partner	SMARCB1	negative correlation	The loss of SMARCA4 or SMARCB1 was mutually exclusive.
26664144	Lung Carcinoma	downstream	miR-148b	positive regulation	Furthermore, we found that miR-148b was positively regulated by BRG1.
26551623	Digestive System Carcinoma	partner	SMARCB1	negative correlation	Co-inactivation of SMARCB1 and SMARCA4 or of SMARCA2 and SMARCA4 was not observed.
24445599	Lung Neoplasm; Non-Small Cell Lung Carcinoma	downstream	CDH1; CDH3; EHF; RRAD	regulation	Importantly, validation studies from multiple cell lines revealed that BRG1 reexpression led to substantial changes in the expression of CDH1, CDH3, EHF, and RRAD that commonly undergo silencing by other epigenetic mechanisms during NSCLC development.
23163725	Lung Carcinoma; Lung Adenocarcinoma	partner	CDH1; TTF-1; VIM	correlation	Finally, we analyzed the publicly available dataset of 442 cases and found that loss of BRG1 and BRM was frequent in E-cadherin-low, TTF-1-low, and vimentin-high cases and correlated with poor prognosis.
21102582	Colorectal Carcinoma	partner	CCND1	positive correlation	Interestingly, this positive correlation between BRG1 and cyclin D1 expression was also observed in CRC specimens.
20969766	Melanoma	downstream	MMP2	positive regulation	We found that BRG1 is recruited to the MMP2 promoter and directly activates expression of this metastasis associated gene.
27764136	Clear Cell Renal Cell Carcinoma	partner	BRG1; PBRM1; ARID1A	positive correlation	For instance, ARID1A loss almost always accompanied PBRM1 loss, whereas BRM loss accompanied loss of BRG1, PBRM1 or ARID1A.