CR2Cancer

Summary
Symbol	ARID1A
Name	AT-rich interaction domain 1A
Aliases	B120; C10rf4; BAF250; BAF250a; C1orf4; SMARCF1; SWI/SNF related, matrix associated, actin dependent regulato ......
Location	1p36.11
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

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Domain

PF01388 ARID/BRIGHT DNA binding domain
PF12031 SWI/SNF-like complex subunit BAF250/Osa

Function

Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Binds DNA non-specifically. 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 (By similarity).

Classification

Class	Modification	Substrate	Product	PubMed
Chromatin remodelling cofactor	#	DNA motif	#	18448678

> Gene Ontology [ TOP ]
Biological Process	GO:0001654 eye development GO:0001838 embryonic epithelial tube formation GO:0001841 neural tube formation GO:0001843 neural tube closure GO:0001890 placenta development GO:0002072 optic cup morphogenesis involved in camera-type eye development GO:0003205 cardiac chamber development GO:0003408 optic cup formation involved in camera-type eye development GO:0006333 chromatin assembly or disassembly GO:0006337 nucleosome disassembly GO:0006338 chromatin remodeling GO:0006342 chromatin silencing GO:0006344 maintenance of chromatin silencing GO:0007423 sensory organ development GO:0007507 heart development GO:0009755 hormone-mediated signaling pathway GO:0014020 primary neural tube formation GO:0014706 striated muscle tissue development GO:0016331 morphogenesis of embryonic epithelium GO:0016458 gene silencing GO:0021915 neural tube development GO:0030518 intracellular steroid hormone receptor signaling pathway GO:0030520 intracellular estrogen receptor signaling pathway GO:0030521 androgen receptor signaling pathway GO:0030522 intracellular receptor signaling pathway GO:0030900 forebrain development GO:0031076 embryonic camera-type eye development GO:0031498 chromatin disassembly GO:0031958 corticosteroid receptor signaling pathway GO:0032984 macromolecular complex disassembly GO:0032986 protein-DNA complex disassembly GO:0034728 nucleosome organization GO:0035051 cardiocyte differentiation GO:0035148 tube formation GO:0035239 tube morphogenesis GO:0040029 regulation of gene expression, epigenetic GO:0042692 muscle cell differentiation GO:0042766 nucleosome mobilization GO:0042921 glucocorticoid receptor signaling pathway 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:0045814 negative regulation of gene expression, epigenetic GO:0045815 positive regulation of gene expression, epigenetic GO:0048048 embryonic eye morphogenesis GO:0048096 chromatin-mediated maintenance of transcription GO:0048545 response to steroid hormone GO:0048562 embryonic organ morphogenesis GO:0048568 embryonic organ development GO:0048592 eye morphogenesis GO:0048593 camera-type eye morphogenesis GO:0048596 embryonic camera-type eye morphogenesis GO:0048608 reproductive structure development GO:0048738 cardiac muscle tissue development GO:0051146 striated muscle cell differentiation GO:0055007 cardiac muscle cell differentiation GO:0060537 muscle tissue development GO:0060562 epithelial tube morphogenesis GO:0060606 tube closure GO:0060674 placenta blood vessel development GO:0060900 embryonic camera-type eye formation GO:0061458 reproductive system development 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:0072175 epithelial tube formation GO:0090596 sensory organ morphogenesis GO:1901998 toxin transport
Molecular Function	GO:0003682 chromatin binding GO:0003713 transcription coactivator activity GO:0016922 ligand-dependent nuclear receptor binding GO:0031491 nucleosome 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-3214858: RMTs methylate histone arginines

Summary
Symbol	ARID1A
Name	AT-rich interaction domain 1A
Aliases	B120; C10rf4; BAF250; BAF250a; C1orf4; SMARCF1; SWI/SNF related, matrix associated, actin dependent regulato ......
Location	1p36.11
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
COSM184240	c.2999C>A	p.S1000Y	Substitution - Missense	Large_intestine
COSM5001656	c.1485T>G	p.H495Q	Substitution - Missense	Pancreas
COSM1717428	c.?	p.V1391M	Substitution - Missense	Biliary_tract
COSM4031005	c.2201A>G	p.D734G	Substitution - Missense	Stomach
COSM907723	c.4003C>T	p.R1335*	Substitution - Nonsense	Endometrium
COSM1236666	c.4091A>T	p.Q1364L	Substitution - Missense	Autonomic_ganglia
COSM1687263	c.2327C>G	p.P776R	Substitution - Missense	Skin
COSM1341426	c.5542delG	p.D1850fs*33	Deletion - Frameshift	Large_intestine
COSM1644335	c.5541_5542insG	p.D1850fs*4	Insertion - Frameshift	Endometrium
COSM51427	c.3211_3211delA	p.K1072fs*21	Deletion - Frameshift	Ovary
COSM907745	c.5779_5780insCT	p.K1928fs*29	Insertion - Frameshift	Endometrium
COSM51487	c.734_747del14	p.A245fs*150	Deletion - Frameshift	Ovary
COSM1341405	c.2518C>T	p.Q840*	Substitution - Nonsense	Liver
COSM1659057	c.4069C>T	p.Q1357*	Substitution - Nonsense	Stomach
COSM4949870	c.1070_1071GC>T	p.S357fs*6	Complex - frameshift	Liver
COSM5346906	c.1791delC	p.P598fs*21	Deletion - Frameshift	Endometrium
COSM5346953	c.6286_6287insC	p.A2097fs*2	Insertion - Frameshift	Endometrium
COSM1341426	c.5542delG	p.D1850fs*33	Deletion - Frameshift	Biliary_tract
COSM5967145	c.417_417delC	p.A140fs*92	Deletion - Frameshift	Salivary_gland
COSM4031023	c.6023T>G	p.L2008R	Substitution - Missense	Stomach
COSM133001	c.5548_5548delG	p.D1850fs*33	Deletion - Frameshift	Large_intestine
COSM133001	c.5548_5548delG	p.D1850fs*33	Deletion - Frameshift	Large_intestine
COSM51226	c.3575_3575delA	p.N1192fs*14	Deletion - Frameshift	Ovary
COSM51228	c.3223_3223delG	p.E1075fs*18	Deletion - Frameshift	Ovary
COSM307322	c.2019delG	p.S674fs*68	Deletion - Frameshift	Liver
COSM5053357	c.4634G>A	p.W1545*	Substitution - Nonsense	Stomach
COSM6019334	c.1801C>T	p.Q601*	Substitution - Nonsense	Ovary
COSM5347041	c.446G>A	p.G149D	Substitution - Missense	Endometrium
COSM1639816	c.3156T>A	p.Y1052*	Substitution - Nonsense	Stomach
COSM4031017	c.4381C>T	p.R1461*	Substitution - Nonsense	Stomach
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Large_intestine
COSM5347003	c.5299G>T	p.E1767*	Substitution - Nonsense	Endometrium
COSM5347093	c.5162G>C	p.R1721P	Substitution - Missense	Endometrium
COSM5347202	c.?_?del?	p.Q176fs*?	Deletion - Frameshift	Endometrium
COSM4746833	c.5942_5943delGC	p.V1982fs*16	Deletion - Frameshift	Stomach
COSM1639814	c.2772delG	p.G925fs*16	Deletion - Frameshift	Stomach
COSM159172	c.4910G>A	p.R1637Q	Substitution - Missense	Breast
COSM318771	c.1476G>T	p.Q492H	Substitution - Missense	Lung
COSM5691104	c.5175T>A	p.I1725I	Substitution - coding silent	Soft_tissue
COSM907692	c.1776T>G	p.Y592*	Substitution - Nonsense	Endometrium
COSM298325	c.3978_3980delGCA	p.Q1334delQ	Deletion - In frame	Bone
COSM1473818	c.5974T>C	p.S1992P	Substitution - Missense	Breast
COSM4169296	c.?	p.Q2176fs*48	Unknown	Biliary_tract
COSM51252	c.2272_2272delC	p.Q758fs*75	Deletion - Frameshift	Ovary
COSM4746829	c.829delG	p.G277fs*86	Deletion - Frameshift	Stomach
COSM4990556	c.3839C>T	p.P1280L	Substitution - Missense	Skin
COSM459375	c.5176G>C	p.E1726Q	Substitution - Missense	Cervix
COSM51451	c.2306C>G	p.S769*	Substitution - Nonsense	Ovary
COSM51432	c.6472C>T	p.R2158*	Substitution - Nonsense	Stomach
COSM5047224	c.3496G>T	p.A1166S	Substitution - Missense	Oesophagus
COSM256110	c.5181_5182insT	p.G1729fs*7	Insertion - Frameshift	Large_intestine
COSM1659160	c.2402delG	p.G801fs*32	Deletion - Frameshift	Pancreas
COSM4603823	c.5995_5996delTT	p.F1999fs*1	Deletion - Frameshift	Upper_aerodigestive_tract
COSM4170632	c.322_328delGGCCCTA	p.R110fs*2	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1473819	c.6427C>T	p.R2143C	Substitution - Missense	Breast
COSM380737	c.4394C>G	p.S1465C	Substitution - Missense	Lung
COSM51454	c.5295_5296insG	p.E1766fs*7	Insertion - Frameshift	Ovary
COSM51477	c.1797_1798insC	p.Q601fs*22	Insertion - Frameshift	Ovary
COSM254538	c.5975C>G	p.S1992*	Substitution - Nonsense	Urinary_tract
COSM1602134	c.666delC	p.P224fs*8	Deletion - Frameshift	Soft_tissue
COSM1341431	c.6472C>A	p.R2158R	Substitution - coding silent	Bone
COSM4751593	c.1266C>A	p.Y422*	Substitution - Nonsense	Stomach
COSM5346931	c.5046_5047delAG	p.S1684fs*13	Deletion - Frameshift	Endometrium
COSM5611224	c.4301_4302CC>TA	p.A1434V	Substitution - Missense	Skin
COSM1602145	c.3467A>G	p.E1156G	Substitution - Missense	Liver
COSM907752	c.6341C>T	p.P2114L	Substitution - Missense	Endometrium
COSM51428	c.2291_2291delC	p.Q766fs*67	Deletion - Frameshift	Ovary
COSM4950826	c.1705G>A	p.A569T	Substitution - Missense	Liver
COSM907762	c.6716T>C	p.L2239P	Substitution - Missense	Endometrium
COSM1639809	c.833G>C	p.G278A	Substitution - Missense	Stomach
COSM83884	c.3826C>T	p.R1276*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM51418	c.5164C>T	p.R1722*	Substitution - Nonsense	Endometrium
COSM907765	c.6762C>G	p.Y2254*	Substitution - Nonsense	Liver
COSM1639808	c.822delG	p.G276fs*87	Deletion - Frameshift	Pancreas
COSM4746831	c.5589_5590delAG	p.E1864fs*36	Deletion - Frameshift	Biliary_tract
COSM5347190	c.?_?del?	p.G1847fs*?	Deletion - Frameshift	Endometrium
COSM4949622	c.5506G>T	p.E1836*	Substitution - Nonsense	Endometrium
COSM5784207	c.1870G>C	p.G624R	Substitution - Missense	Breast
COSM132992	c.6259G>A	p.G2087R	Substitution - Missense	Endometrium
COSM3727924	c.1690_1691insC	p.Q564fs*59	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4143735	c.516A>C	p.Q172H	Substitution - Missense	Thyroid
COSM1341426	c.5542delG	p.D1850fs*33	Deletion - Frameshift	Large_intestine
COSM51472	c.120_145del26	p.A41fs*61	Deletion - Frameshift	Ovary
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Endometrium
COSM217036	c.3817_3841del25	p.G1274fs*7	Deletion - Frameshift	Liver
COSM534555	c.1303C>T	p.Q435*	Substitution - Nonsense	Ovary
COSM1602134	c.666delC	p.P224fs*8	Deletion - Frameshift	Liver
COSM2235525	c.4791C>T	p.N1597N	Substitution - coding silent	Large_intestine
COSM2235525	c.4791C>T	p.N1597N	Substitution - coding silent	Large_intestine
COSM126559	c.802C>T	p.Q268*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM4663221	c.2142_2143insT	p.S715fs*102	Insertion - Frameshift	Large_intestine
COSM51464	c.1627C>T	p.Q543*	Substitution - Nonsense	Endometrium
COSM907712	c.3514C>T	p.Q1172*	Substitution - Nonsense	Endometrium
COSM907735	c.5175T>C	p.I1725I	Substitution - coding silent	Endometrium
COSM3966497	c.1376C>T	p.P459L	Substitution - Missense	Central_nervous_system
COSM4949622	c.5506G>T	p.E1836*	Substitution - Nonsense	Liver
COSM426007	c.2644G>T	p.G882W	Substitution - Missense	Breast
COSM4031029	c.6791C>A	p.S2264*	Substitution - Nonsense	Stomach
COSM4951069	c.1113delG	p.Q372fs*19	Deletion - Frameshift	Liver
COSM5881717	c.955_971del17	p.G319fs*75	Deletion - Frameshift	Breast
COSM51221	c.4926_4927insTGGC	p.P1643fs*6	Insertion - Frameshift	Ovary
COSM5752694	c.1602C>A	p.Y534*	Substitution - Nonsense	Breast
COSM4663229	c.4399delC	p.P1468fs*13	Deletion - Frameshift	Endometrium
COSM51441	c.5161C>T	p.R1721*	Substitution - Nonsense	Stomach
COSM217036	c.3817_3841del25	p.G1274fs*7	Deletion - Frameshift	Liver
COSM224796	c.3152T>G	p.L1051R	Substitution - Missense	Skin
COSM251379	c.2457_2458insC	p.N820fs*52	Insertion - Frameshift	Liver
COSM1602134	c.666delC	p.P224fs*8	Deletion - Frameshift	Large_intestine
COSM1245445	c.1891_1897delAGCCTTC	p.L632fs*13	Deletion - Frameshift	Oesophagus
COSM1341407	c.3340delC	p.P1115fs*46	Deletion - Frameshift	Large_intestine
COSM3487581	c.2732+2T>C	p.?	Unknown	Oesophagus
COSM3804818	c.2132C>G	p.S711*	Substitution - Nonsense	Breast
COSM5031759	c.1624C>T	p.Q542*	Substitution - Nonsense	Biliary_tract
COSM5347079	c.3881T>C	p.I1294T	Substitution - Missense	Endometrium
COSM5421414	c.5421_5422insT	p.K1808fs*1	Insertion - Frameshift	Prostate
COSM4751602	c.3832C>T	p.H1278Y	Substitution - Missense	Stomach
COSM1666862	c.?	p.?	Unknown	Endometrium
COSM51216	c.585C>A	p.Y195*	Substitution - Nonsense	Ovary
COSM1341408	c.3977_3978insGCA	p.Q1334_R1335insQ	Insertion - In frame	Large_intestine
COSM1296228	c.6103G>A	p.E2035K	Substitution - Missense	Urinary_tract
COSM298325	c.3978_3980delGCA	p.Q1334delQ	Deletion - In frame	Breast
COSM907765	c.6762C>G	p.Y2254*	Substitution - Nonsense	Endometrium
COSM5346994	c.6368G>C	p.S2123T	Substitution - Missense	Endometrium
COSM51247	c.3994C>T	p.Q1332*	Substitution - Nonsense	Ovary
COSM1341426	c.5542delG	p.D1850fs*33	Deletion - Frameshift	Large_intestine
COSM3726771	c.2231C>G	p.S744*	Substitution - Nonsense	Lung
COSM298325	c.3978_3980delGCA	p.Q1334delQ	Deletion - In frame	Upper_aerodigestive_tract
COSM1341432	c.6473G>A	p.R2158Q	Substitution - Missense	Stomach
COSM4031019	c.4632G>A	p.S1544S	Substitution - coding silent	Stomach
COSM5490707	c.3000_3001insT	p.S1001fs*6	Insertion - Frameshift	Biliary_tract
COSM5015854	c.4237_4240delGCCA	p.Q1415fs*65	Deletion - Frameshift	Kidney
COSM350030	c.5542G>T	p.G1848W	Substitution - Missense	Lung
COSM4988534	c.358C>T	p.P120S	Substitution - Missense	Endometrium
COSM1289257	c.1226C>A	p.S409*	Substitution - Nonsense	Oesophagus
COSM51492	c.5899_5900insTG	p.T1969fs*47	Insertion - Frameshift	Ovary
COSM1159110	c.2466_2467insT	p.Y823fs*49	Insertion - Frameshift	Pancreas
COSM3677643	c.1516T>C	p.S506P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5885778	c.3001_3002insC	p.T1002fs*5	Insertion - Frameshift	Urinary_tract
COSM1127043	c.6372A>G	p.K2124K	Substitution - coding silent	Prostate
COSM4031017	c.4381C>T	p.R1461*	Substitution - Nonsense	Endometrium
COSM907724	c.4053_4068del16	p.P1353fs*123	Deletion - Frameshift	Endometrium
COSM907732	c.4891C>T	p.Q1631*	Substitution - Nonsense	Endometrium
COSM1194916	c.1226C>T	p.S409L	Substitution - Missense	Lung
COSM5347224	c.?_?del?	p.Q575fs*?	Deletion - Frameshift	Endometrium
COSM243046	c.4948C>T	p.Q1650*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1296224	c.3598C>T	p.Q1200*	Substitution - Nonsense	Stomach
COSM1341426	c.5542delG	p.D1850fs*33	Deletion - Frameshift	Stomach
COSM298325	c.3978_3980delGCA	p.Q1334delQ	Deletion - In frame	Breast
COSM1296225	c.3860G>C	p.R1287T	Substitution - Missense	Urinary_tract
COSM4031015	c.4101+1G>C	p.?	Unknown	Stomach
COSM5987268	c.112G>A	p.E38K	Substitution - Missense	Salivary_gland
COSM384695	c.6848G>A	p.G2283D	Substitution - Missense	Lung
COSM426004	c.1582C>T	p.Q528*	Substitution - Nonsense	Breast
COSM3704482	c.2879-1G>A	p.?	Unknown	Liver
COSM4170633	c.641C>T	p.S214F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5346952	c.4259_4260insG	p.P1421fs*24	Insertion - Frameshift	Endometrium
COSM1602148	c.3972delC	p.P1326fs*155	Deletion - Frameshift	Large_intestine
COSM218428	c.6076C>T	p.Q2026*	Substitution - Nonsense	Pancreas
COSM5444730	c.5152G>T	p.E1718*	Substitution - Nonsense	Biliary_tract
COSM51474	c.1642C>T	p.Q548*	Substitution - Nonsense	Ovary
COSM224155	c.3645G>A	p.M1215I	Substitution - Missense	Skin
COSM1602162	c.6767C>G	p.S2256*	Substitution - Nonsense	Oesophagus
COSM907742	c.5481C>T	p.C1827C	Substitution - coding silent	Endometrium
COSM1639819	c.4550delC	p.Q1519fs*8	Deletion - Frameshift	Endometrium
COSM133015	c.5359G>T	p.E1787*	Substitution - Nonsense	Stomach
COSM5007885	c.6357_6358insGT	p.E2120fs*16	Insertion - Frameshift	Large_intestine
COSM251421	c.6260G>A	p.G2087E	Substitution - Missense	Stomach
COSM907727	c.4417C>T	p.Q1473*	Substitution - Nonsense	Pancreas
COSM1717429	c.?	p.S949fs*19	Unknown	Biliary_tract
COSM133019	c.854_854delG	p.G285fs*78	Deletion - Frameshift	Stomach
COSM130413	c.2830C>T	p.Q944*	Substitution - Nonsense	Liver
COSM4031009	c.3377C>T	p.S1126F	Substitution - Missense	Skin
COSM51419	c.3948_3948delG	p.M1318fs*163	Deletion - Frameshift	Ovary
COSM5347205	c.?_?del?	p.I1635fs*?	Deletion - Frameshift	Endometrium
COSM957518	c.?	p.L2009_L2017del	Deletion - In frame	Ovary
COSM1734087	c.5615C>T	p.A1872V	Substitution - Missense	Pancreas
COSM51224	c.5202T>A	p.Y1734*	Substitution - Nonsense	Kidney
COSM1602134	c.666delC	p.P224fs*8	Deletion - Frameshift	Endometrium
COSM1666863	c.?	p.E2047*	Substitution - Nonsense	Urinary_tract
COSM4236200	c.3977C>T	p.P1326L	Substitution - Missense	Large_intestine
COSM254539	c.6381C>G	p.I2127M	Substitution - Missense	Urinary_tract
COSM1296223	c.3283C>T	p.Q1095*	Substitution - Nonsense	Pancreas
COSM51230	c.898_899insCGTC	p.P302fs*99	Insertion - Frameshift	Ovary
COSM4663215	c.544G>A	p.A182T	Substitution - Missense	Large_intestine
COSM907701	c.2348delC	p.T783fs*50	Deletion - Frameshift	Endometrium
COSM4031017	c.4381C>T	p.R1461*	Substitution - Nonsense	Endometrium
COSM1235371	c.3133G>A	p.G1045S	Substitution - Missense	Breast
COSM4939599	c.4994-2A>T	p.?	Unknown	Liver
COSM132993	c.5719A>T	p.I1907F	Substitution - Missense	Breast
COSM907707	c.3219G>A	p.W1073*	Substitution - Nonsense	Stomach
COSM5414960	c.2833G>A	p.G945R	Substitution - Missense	Endometrium
COSM464364	c.5749A>G	p.T1917A	Substitution - Missense	Kidney
COSM1185372	c.2318C>T	p.P773L	Substitution - Missense	Lung
COSM51484	c.4840C>T	p.Q1614*	Substitution - Nonsense	Biliary_tract
COSM3377105	c.2296C>T	p.Q766*	Substitution - Nonsense	Pancreas
COSM3386057	c.1900T>G	p.S634A	Substitution - Missense	Pancreas
COSM1636669	c.?	p.Q393*	Substitution - Nonsense	Urinary_tract
COSM332817	c.1435C>T	p.Q479*	Substitution - Nonsense	Breast
COSM5369397	c.3379C>T	p.Q1127*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4765103	c.3277_3278insA	p.Q1095fs*10	Insertion - Frameshift	Stomach
COSM5888519	c.5818C>T	p.P1940S	Substitution - Missense	Skin
COSM133006	c.2944_2946delAAC	p.N982del	Deletion - In frame	Large_intestine
COSM1602135	c.927G>T	p.Q309H	Substitution - Missense	Liver
COSM83884	c.3826C>T	p.R1276*	Substitution - Nonsense	Biliary_tract
COSM5347131	c.6444T>G	p.Y2148*	Substitution - Nonsense	Endometrium
COSM1235373	c.6265C>A	p.L2089I	Substitution - Missense	Breast
COSM907737	c.5228C>T	p.T1743M	Substitution - Missense	Endometrium
COSM51222	c.4011_4012delTT	p.S1338fs*106	Deletion - Frameshift	Ovary
COSM133001	c.5548_5548delG	p.D1850fs*33	Deletion - Frameshift	Large_intestine
COSM5516920	c.4330G>T	p.E1444*	Substitution - Nonsense	Biliary_tract
COSM5347215	c.?_?ins?	p.F2251fs*?	Insertion - Frameshift	Endometrium
COSM1235374	c.942C>G	p.G314G	Substitution - coding silent	Breast
COSM5416078	c.4339C>T	p.P1447S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5637809	c.1519C>A	p.Q507K	Substitution - Missense	Oesophagus
COSM1245444	c.3952delA	p.M1318fs*163	Deletion - Frameshift	Oesophagus
COSM3724466	c.2659C>T	p.P887S	Substitution - Missense	Large_intestine
COSM1473819	c.6427C>T	p.R2143C	Substitution - Missense	Pancreas
COSM4829320	c.1369C>T	p.Q457*	Substitution - Nonsense	Cervix
COSM4990558	c.5478C>T	p.D1826D	Substitution - coding silent	Skin
COSM5347044	c.4792C>T	p.R1598C	Substitution - Missense	Endometrium
COSM414505	c.4591G>T	p.E1531*	Substitution - Nonsense	Large_intestine
COSM251357	c.6774_6792del19	p.L2259fs*2	Deletion - Frameshift	Liver
COSM907691	c.1776T>A	p.Y592*	Substitution - Nonsense	Endometrium
COSM51231	c.6710_6711insT	p.L2238fs*40	Insertion - Frameshift	Ovary
COSM133001	c.5548_5548delG	p.D1850fs*33	Deletion - Frameshift	Stomach
COSM51236	c.2122C>T	p.Q708*	Substitution - Nonsense	Breast
COSM4751601	c.3385A>G	p.K1129E	Substitution - Missense	Stomach
COSM907723	c.4003C>T	p.R1335*	Substitution - Nonsense	Central_nervous_system
COSM5353593	c.2803A>G	p.N935D	Substitution - Missense	Large_intestine
COSM234202	c.3391C>T	p.Q1131*	Substitution - Nonsense	Skin
COSM255048	c.2993delC	p.S999fs*40	Deletion - Frameshift	Urinary_tract
COSM4950376	c.5669G>T	p.G1890V	Substitution - Missense	Liver
COSM3764177	c.4847C>T	p.A1616V	Substitution - Missense	Central_nervous_system
COSM1666618	c.?	p.Q321fs*42	Unknown	Ovary
COSM907723	c.4003C>T	p.R1335*	Substitution - Nonsense	Oesophagus
COSM2235412	c.1289A>G	p.Y430C	Substitution - Missense	Stomach
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Endometrium
COSM1296231	c.6619C>T	p.Q2207*	Substitution - Nonsense	Urinary_tract
COSM1578111	c.1712C>T	p.S571L	Substitution - Missense	Urinary_tract
COSM4807291	c.3188G>T	p.G1063V	Substitution - Missense	Pancreas
COSM5347033	c.818C>T	p.A273V	Substitution - Missense	Endometrium
COSM254550	c.4477C>T	p.Q1493*	Substitution - Nonsense	Urinary_tract
COSM238842	c.5849G>A	p.R1950Q	Substitution - Missense	Prostate
COSM5967146	c.6448_6470del23	p.T2150fs*67	Deletion - Frameshift	Salivary_gland
COSM4949880	c.5504A>G	p.Q1835R	Substitution - Missense	Liver
COSM907726	c.4336C>T	p.R1446*	Substitution - Nonsense	Pancreas
COSM1341430	c.6415delC	p.F2141fs*59	Deletion - Frameshift	Large_intestine
COSM1341434	c.6612C>G	p.A2204A	Substitution - coding silent	Large_intestine
COSM4951195	c.5509_5510insT	p.D1838fs*1	Insertion - Frameshift	Liver
COSM5347107	c.5906C>T	p.T1969I	Substitution - Missense	Endometrium
COSM5347135	c.4144A>T	p.K1382*	Substitution - Nonsense	Endometrium
COSM5967148	c.3446C>G	p.S1149*	Substitution - Nonsense	Salivary_gland
COSM4169291	c.?	p.Q172*	Substitution - Nonsense	Biliary_tract
COSM1666858	c.?	p.W337*	Substitution - Nonsense	Urinary_tract
COSM1666862	c.?	p.?	Unknown	Endometrium
COSM5885263	c.?	p.P885L	Substitution - Missense	Breast
COSM5226879	c.3458delC	p.M1154fs*7	Deletion - Frameshift	Breast
COSM4663217	c.1620G>A	p.T540T	Substitution - coding silent	Large_intestine
COSM5825560	c.4813C>G	p.P1605A	Substitution - Missense	Pancreas
COSM5985656	c.?	p.Q1250*	Substitution - Nonsense	Stomach
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Endometrium
COSM130413	c.2830C>T	p.Q944*	Substitution - Nonsense	Liver
COSM2235546	c.5585A>G	p.K1862R	Substitution - Missense	Large_intestine
COSM5347129	c.1762C>T	p.Q588*	Substitution - Nonsense	Endometrium
COSM1666862	c.?	p.?	Unknown	Endometrium
COSM4031026	c.6584T>C	p.L2195P	Substitution - Missense	Stomach
COSM144171	c.4270C>T	p.Q1424*	Substitution - Nonsense	Oesophagus
COSM217035	c.1169_1170insT	p.M390fs*10	Insertion - Frameshift	Liver
COSM251379	c.2457_2458insC	p.N820fs*52	Insertion - Frameshift	Liver
COSM1172130	c.6160G>T	p.E2054*	Substitution - Nonsense	Pancreas
COSM1741351	c.3040delC	p.L1014fs*25	Deletion - Frameshift	Urinary_tract
COSM5752654	c.1934C>G	p.S645*	Substitution - Nonsense	Breast
COSM87889	c.1015delG	p.A339fs*24	Deletion - Frameshift	Central_nervous_system
COSM4949624	c.622C>T	p.P208S	Substitution - Missense	Liver
COSM254541	c.3634C>T	p.Q1212*	Substitution - Nonsense	Endometrium
COSM907746	c.5791G>T	p.E1931*	Substitution - Nonsense	Endometrium
COSM298325	c.3978_3980delGCA	p.Q1334delQ	Deletion - In frame	Bone
COSM3804823	c.6313A>C	p.T2105P	Substitution - Missense	Breast
COSM5910132	c.1351-1G>A	p.?	Unknown	Skin
COSM87889	c.1015delG	p.A339fs*24	Deletion - Frameshift	Central_nervous_system
COSM132998	c.4689_4689delC	p.M1564fs*1	Deletion - Frameshift	Large_intestine
COSM39850	c.1241G>A	p.G414E	Substitution - Missense	Central_nervous_system
COSM1639819	c.4550delC	p.Q1519fs*8	Deletion - Frameshift	Stomach
COSM251356	c.6693_6705delGCGGCGGGCTGCC	p.M2231fs*32	Deletion - Frameshift	Liver
COSM184236	c.2077C>T	p.R693*	Substitution - Nonsense	Ovary
COSM1639807	c.490_497delGCCGCGGC	p.A164fs*233	Deletion - Frameshift	Stomach
COSM79135	c.1991C>G	p.S664*	Substitution - Nonsense	Urinary_tract
COSM3724474	c.6694C>T	p.R2232W	Substitution - Missense	Large_intestine
COSM907726	c.4336C>T	p.R1446*	Substitution - Nonsense	Stomach
COSM3377105	c.2296C>T	p.Q766*	Substitution - Nonsense	Skin
COSM4765105	c.4550_4551insC	p.Q1519fs*13	Insertion - Frameshift	Liver
COSM1602162	c.6767C>G	p.S2256*	Substitution - Nonsense	Liver
COSM51479	c.4851_4851delT	p.P1619fs*7	Deletion - Frameshift	Ovary
COSM5969319	c.3015T>C	p.N1005N	Substitution - coding silent	Upper_aerodigestive_tract
COSM5547664	c.6204delG	p.Q2070fs*65	Deletion - Frameshift	Prostate
COSM4143738	c.2002A>T	p.S668C	Substitution - Missense	Thyroid
COSM4949944	c.1653C>G	p.Y551*	Substitution - Nonsense	Liver
COSM51441	c.5161C>T	p.R1721*	Substitution - Nonsense	Endometrium
COSM352899	c.3068G>T	p.W1023L	Substitution - Missense	Lung
COSM1242007	c.3211delA	p.K1072fs*21	Deletion - Frameshift	Endometrium
COSM3377106	c.6203C>T	p.S2068L	Substitution - Missense	Pancreas
COSM51229	c.6718_6719insG	p.A2240fs*38	Insertion - Frameshift	Ovary
COSM254550	c.4477C>T	p.Q1493*	Substitution - Nonsense	Urinary_tract
COSM5347469	c.2175_2193del19	p.P726fs*10	Deletion - Frameshift	Liver
COSM2235456	c.2291delC	p.Q766fs*67	Deletion - Frameshift	Soft_tissue
COSM5347223	c.?_?ins?	p.Y1324fs*?	Insertion - Frameshift	Endometrium
COSM5347211	c.?_?ins?	p.L2073fs*?	Insertion - Frameshift	Endometrium
COSM5369886	c.4078_4078delA	p.T1360fs*121	Deletion - Frameshift	Cervix
COSM5900997	c.6338C>T	p.S2113F	Substitution - Missense	Skin
COSM5346999	c.6763G>T	p.E2255*	Substitution - Nonsense	Endometrium
COSM4031018	c.4534C>T	p.Q1512*	Substitution - Nonsense	Stomach
COSM4995435	c.827G>A	p.G276E	Substitution - Missense	Upper_aerodigestive_tract
COSM133001	c.5548_5548delG	p.D1850fs*33	Deletion - Frameshift	Large_intestine
COSM51486	c.4129_4130insA	p.Y1377fs*1	Insertion - Frameshift	Ovary
COSM674181	c.5532G>A	p.W1844*	Substitution - Nonsense	Lung
COSM5018663	c.5287_5289delGAA	p.E1767delE	Deletion - In frame	Soft_tissue
COSM5347001	c.2686G>T	p.E896*	Substitution - Nonsense	Endometrium
COSM5347001	c.2686G>T	p.E896*	Substitution - Nonsense	Endometrium
COSM1296220	c.1696C>T	p.Q566*	Substitution - Nonsense	Urinary_tract
COSM51244	c.2179_2188del10	p.R727fs*12	Deletion - Frameshift	Ovary
COSM51483	c.4624G>T	p.E1542*	Substitution - Nonsense	Liver
COSM51426	c.1687C>T	p.Q563*	Substitution - Nonsense	Pancreas
COSM5347134	c.5058G>A	p.W1686*	Substitution - Nonsense	Endometrium
COSM51218	c.4001_4002insGCA	p.Q1334_R1335insQ	Insertion - In frame	Prostate
COSM4951234	c.3254C>G	p.S1085*	Substitution - Nonsense	Liver
COSM907693	c.2014G>T	p.E672*	Substitution - Nonsense	Endometrium
COSM907728	c.4538_4548delGCACGGGCTCT	p.T1514fs*14	Deletion - Frameshift	Endometrium
COSM1296230	c.6564G>T	p.Q2188H	Substitution - Missense	Urinary_tract
COSM6006264	c.3757delA	p.N1253fs*16	Deletion - Frameshift	Small_intestine
COSM51453	c.1570C>T	p.Q524*	Substitution - Nonsense	Ovary
COSM318770	c.4397C>T	p.A1466V	Substitution - Missense	Lung
COSM51480	c.56_57insGCCGCC	p.P19_P20insPP	Insertion - In frame	Ovary
COSM1602147	c.3910G>T	p.A1304S	Substitution - Missense	Liver
COSM3984937	c.4523A>G	p.Y1508C	Substitution - Missense	Kidney
COSM132992	c.6259G>A	p.G2087R	Substitution - Missense	Biliary_tract
COSM3711308	c.2073C>A	p.G691G	Substitution - coding silent	Upper_aerodigestive_tract
COSM1183546	c.3668G>A	p.R1223H	Substitution - Missense	Large_intestine
COSM4990556	c.3839C>T	p.P1280L	Substitution - Missense	Skin
COSM907681	c.1242_1249delACATGGGT	p.H415fs*205	Deletion - Frameshift	Endometrium
COSM4663227	c.4315G>A	p.A1439T	Substitution - Missense	Large_intestine
COSM85584	c.5947_5948delTG	p.S1985fs*13	Deletion - Frameshift	Pancreas
COSM2235571	c.6343C>T	p.Q2115*	Substitution - Nonsense	Large_intestine
COSM1666860	c.?	p.D1850fs*33	Unknown	Urinary_tract
COSM144170	c.1592C>T	p.P531L	Substitution - Missense	Skin
COSM4613001	c.1108delG	p.Q372fs*19	Deletion - Frameshift	Large_intestine
COSM464365	c.5882G>A	p.S1961N	Substitution - Missense	Kidney
COSM4170631	c.313delG	p.N106fs*8	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM907740	c.5385G>C	p.K1795N	Substitution - Missense	Endometrium
COSM907722	c.3991C>T	p.Q1331*	Substitution - Nonsense	Endometrium
COSM5347196	c.?_?del?	p.F1606fs*?	Deletion - Frameshift	Endometrium
COSM4949622	c.5506G>T	p.E1836*	Substitution - Nonsense	Liver
COSM5346909	c.5628_5638del11	p.P1878fs*19	Deletion - Frameshift	Endometrium
COSM1578110	c.6156C>A	p.C2052*	Substitution - Nonsense	Kidney
COSM51418	c.5164C>T	p.R1722*	Substitution - Nonsense	Endometrium
COSM1242007	c.3211delA	p.K1072fs*21	Deletion - Frameshift	Large_intestine
COSM4830094	c.2799G>A	p.G933G	Substitution - coding silent	Cervix
COSM254546	c.3743C>A	p.S1248*	Substitution - Nonsense	Urinary_tract
COSM4170630	c.276_277insG	p.P94fs*17	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3400647	c.4380C>T	p.G1460G	Substitution - coding silent	Central_nervous_system
COSM251353	c.1015_1029delGCTGCGGCGGCGGCA	p.A339_A343delAAAAA	Deletion - In frame	Liver
COSM5952065	c.2988+1G>T	p.?	Unknown	Oesophagus
COSM3386055	c.1258C>T	p.Q420*	Substitution - Nonsense	Endometrium
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Endometrium
COSM51484	c.4840C>T	p.Q1614*	Substitution - Nonsense	Ovary
COSM3377105	c.2296C>T	p.Q766*	Substitution - Nonsense	Liver
COSM5945937	c.1721C>T	p.S574F	Substitution - Missense	Skin
COSM5346963	c.5490_5491insC	p.L1831fs*8	Insertion - Frameshift	Endometrium
COSM51442	c.5566C>T	p.Q1856*	Substitution - Nonsense	Skin
COSM1580525	c.1887C>A	p.N629K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1667288	c.2618C>T	p.A873V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5347000	c.6273G>A	p.W2091*	Substitution - Nonsense	Endometrium
COSM51475	c.4582C>T	p.R1528*	Substitution - Nonsense	Endometrium
COSM1296224	c.3598C>T	p.Q1200*	Substitution - Nonsense	Skin
COSM1341426	c.5542delG	p.D1850fs*33	Deletion - Frameshift	Stomach
COSM907755	c.6507_6508insCTG	p.L2171_A2172insL	Insertion - In frame	Endometrium
COSM4765107	c.5542_5543insG	p.D1850fs*4	Insertion - Frameshift	Breast
COSM5752430	c.5350_5363del14	p.N1784fs*13	Deletion - Frameshift	Breast
COSM254545	c.3590C>G	p.S1197C	Substitution - Missense	Urinary_tract
COSM51462	c.1776_1776delT	p.S593fs*26	Deletion - Frameshift	Ovary
COSM1602132	c.309_321del13	p.N104fs*6	Deletion - Frameshift	Liver
COSM133001	c.5548_5548delG	p.D1850fs*33	Deletion - Frameshift	Large_intestine
COSM51424	c.1029_1043del15	p.A344_A348del	Deletion - In frame	Liver
COSM4031011	c.3539+1G>A	p.?	Unknown	Stomach
COSM5346932	c.2973_2974delAG	p.E992fs*14	Deletion - Frameshift	Endometrium
COSM5347019	c.2123A>C	p.Q708P	Substitution - Missense	Upper_aerodigestive_tract
COSM907703	c.2974G>T	p.E992*	Substitution - Nonsense	Endometrium
COSM907737	c.5228C>T	p.T1743M	Substitution - Missense	Stomach
COSM5380521	c.5351A>G	p.N1784S	Substitution - Missense	Skin
COSM1666862	c.?	p.?	Unknown	Ovary
COSM3400646	c.2752A>G	p.M918V	Substitution - Missense	Central_nervous_system
COSM1727597	c.3257_3264delGCAGTGCT	p.S1087fs*15	Deletion - Frameshift	Liver
COSM4765102	c.2803_2804insAATA	p.N935fs*2	Insertion - Frameshift	Stomach
COSM85584	c.5947_5948delTG	p.S1985fs*13	Deletion - Frameshift	Endometrium
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Pancreas
COSM51248	c.6791C>G	p.S2264*	Substitution - Nonsense	Ovary
COSM907697	c.2208_2209insAT	p.M737fs*6	Insertion - Frameshift	Endometrium
COSM907726	c.4336C>T	p.R1446*	Substitution - Nonsense	Stomach
COSM907727	c.4417C>T	p.Q1473*	Substitution - Nonsense	Endometrium
COSM254545	c.3590C>G	p.S1197C	Substitution - Missense	Urinary_tract
COSM254541	c.3634C>T	p.Q1212*	Substitution - Nonsense	Breast
COSM4951087	c.2174_2192del19	p.P726fs*10	Deletion - Frameshift	Liver
COSM5576313	c.5359_5360insAGAT	p.A1789fs*14	Insertion - Frameshift	Stomach
COSM251420	c.487G>A	p.A163T	Substitution - Missense	Liver
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Ovary
COSM184236	c.2077C>T	p.R693*	Substitution - Nonsense	Stomach
COSM3704483	c.2899A>G	p.M967V	Substitution - Missense	Liver
COSM1192095	c.3292C>T	p.Q1098*	Substitution - Nonsense	Pancreas
COSM907680	c.1213C>T	p.Q405*	Substitution - Nonsense	Endometrium
COSM4910220	c.3002C>G	p.S1001C	Substitution - Missense	Liver
COSM5607838	c.4951C>T	p.P1651S	Substitution - Missense	Skin
COSM3732683	c.5303T>C	p.L1768P	Substitution - Missense	Stomach
COSM4031022	c.5301A>G	p.E1767E	Substitution - coding silent	Stomach
COSM2235502	c.3744A>C	p.S1248S	Substitution - coding silent	Large_intestine
COSM3724468	c.3670A>G	p.M1224V	Substitution - Missense	Large_intestine
COSM1666862	c.?	p.?	Unknown	Ovary
COSM5991642	c.?	p.R1722*	Substitution - Nonsense	Breast
COSM1341426	c.5542delG	p.D1850fs*33	Deletion - Frameshift	Biliary_tract
COSM5567539	c.5252G>A	p.S1751N	Substitution - Missense	Prostate
COSM1473820	c.6746_6747insA	p.E2250fs*28	Insertion - Frameshift	Breast
COSM5346924	c.6344_6345delAG	p.R2116fs*33	Deletion - Frameshift	Endometrium
COSM1639821	c.5643_5652del10	p.H1881fs*39	Deletion - Frameshift	Stomach
COSM184236	c.2077C>T	p.R693*	Substitution - Nonsense	Endometrium
COSM1236348	c.3229_3230insG	p.A1077fs*28	Insertion - Frameshift	Autonomic_ganglia
COSM3727110	c.2317C>T	p.P773S	Substitution - Missense	Skin
COSM5607837	c.1354C>T	p.P452S	Substitution - Missense	Skin
COSM4949888	c.128_129insGGC	p.A45_E46insA	Insertion - In frame	Liver
COSM4771936	c.360_367delGCCCGGCG	p.P121fs*276	Deletion - Frameshift	Stomach
COSM51418	c.5164C>T	p.R1722*	Substitution - Nonsense	Stomach
COSM144171	c.4270C>T	p.Q1424*	Substitution - Nonsense	Breast
COSM907766	c.6806C>A	p.S2269*	Substitution - Nonsense	Kidney
COSM1639811	c.1060C>T	p.Q354*	Substitution - Nonsense	Soft_tissue
COSM1296224	c.3598C>T	p.Q1200*	Substitution - Nonsense	Urinary_tract
COSM133011	c.827_827delG	p.G276fs*87	Deletion - Frameshift	Salivary_gland
COSM4746830	c.5143_5145delCTC	p.L1716delL	Deletion - In frame	Stomach
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Large_intestine
COSM51441	c.5161C>T	p.R1721*	Substitution - Nonsense	Central_nervous_system
COSM907739	c.5365delG	p.A1789fs*17	Deletion - Frameshift	Kidney
COSM907754	c.6410delC	p.T2138fs*62	Deletion - Frameshift	Endometrium
COSM1639808	c.822delG	p.G276fs*87	Deletion - Frameshift	Biliary_tract
COSM1639808	c.822delG	p.G276fs*87	Deletion - Frameshift	Stomach
COSM5347232	c.?_?del?	p.N201fs*?	Deletion - Frameshift	Endometrium
COSM3720864	c.5894C>T	p.T1965I	Substitution - Missense	Upper_aerodigestive_tract
COSM51422	c.1680C>A	p.Y560*	Substitution - Nonsense	Ovary
COSM907701	c.2348delC	p.T783fs*50	Deletion - Frameshift	Large_intestine
COSM1639819	c.4550delC	p.Q1519fs*8	Deletion - Frameshift	Stomach
COSM132999	c.3281_3281delA	p.K1094fs*67	Deletion - Frameshift	Large_intestine
COSM231798	c.4781C>T	p.P1594L	Substitution - Missense	Skin
COSM3358384	c.1993_1994delGG	p.G665fs*10	Deletion - Frameshift	Kidney
COSM5452438	c.1235A>G	p.Q412R	Substitution - Missense	Large_intestine
COSM680172	c.3662T>C	p.M1221T	Substitution - Missense	Lung
COSM5801997	c.1108_1109insG	p.Q372fs*28	Insertion - Frameshift	Breast
COSM1296224	c.3598C>T	p.Q1200*	Substitution - Nonsense	Skin
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Endometrium
COSM184236	c.2077C>T	p.R693*	Substitution - Nonsense	Central_nervous_system
COSM1235219	c.3440C>T	p.P1147L	Substitution - Missense	Skin
COSM1742795	c.4823A>G	p.H1608R	Substitution - Missense	Biliary_tract
COSM4591727	c.3163T>C	p.Y1055H	Substitution - Missense	Upper_aerodigestive_tract
COSM1666861	c.?	p.Q507*	Substitution - Nonsense	Urinary_tract
COSM5347225	c.?_?del?	p.R1528fs*?	Deletion - Frameshift	Endometrium
COSM1666859	c.?	p.S334*	Substitution - Nonsense	Urinary_tract
COSM5752254	c.722_747del26	p.S241fs*1	Deletion - Frameshift	Breast
COSM5352283	c.?	p.R2233W	Substitution - Missense	Endometrium
COSM251399	c.2632C>T	p.Q878*	Substitution - Nonsense	Urinary_tract
COSM51213	c.3854_3855insA	p.Y1285fs*1	Insertion - Frameshift	Ovary
COSM907726	c.4336C>T	p.R1446*	Substitution - Nonsense	Stomach
COSM1245440	c.4227_4228insCC	p.Q1411fs*71	Insertion - Frameshift	Oesophagus
COSM1341430	c.6415delC	p.F2141fs*59	Deletion - Frameshift	Large_intestine
COSM4779200	c.2364C>G	p.Y788*	Substitution - Nonsense	Liver
COSM5878499	c.359_372del14	p.P120fs*275	Deletion - Frameshift	Liver
COSM13835	c.2834delG	p.G945fs*23	Deletion - Frameshift	Lung
COSM3966498	c.4093C>T	p.Q1365*	Substitution - Nonsense	Adrenal_gland
COSM3386058	c.4086T>G	p.Y1362*	Substitution - Nonsense	Pancreas
COSM133025	c.2296_2297insC	p.Q766fs*51	Insertion - Frameshift	Pancreas
COSM1341426	c.5542delG	p.D1850fs*33	Deletion - Frameshift	Endometrium
COSM1580526	c.4879C>G	p.P1627A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1341430	c.6415delC	p.F2141fs*59	Deletion - Frameshift	Endometrium
COSM3487574	c.1140A>G	p.P380P	Substitution - coding silent	Skin
COSM5981954	c.?	p.Q812*	Substitution - Nonsense	Stomach
COSM51469	c.1107_1108insG	p.Q372fs*28	Insertion - Frameshift	Breast
COSM907723	c.4003C>T	p.R1335*	Substitution - Nonsense	Endometrium
COSM1626992	c.6538_6539insT	p.A2181fs*44	Insertion - Frameshift	Liver
COSM51420	c.5540_5541insG	p.G1848fs*6	Insertion - Frameshift	Ovary
COSM133017	c.6420_6420delC	p.F2141fs*59	Deletion - Frameshift	Stomach
COSM5347141	c.5395G>T	p.E1799*	Substitution - Nonsense	Endometrium
COSM5347471	c.5433_5443del11	p.L1812fs*6	Deletion - Frameshift	Liver
COSM5576271	c.3297_3298delTC	p.Y1101fs*3	Deletion - Frameshift	Stomach
COSM1687262	c.2027C>T	p.P676L	Substitution - Missense	Skin
COSM5576294	c.2999delC	p.S1000fs*39	Deletion - Frameshift	Stomach
COSM4751600	c.2834G>A	p.G945E	Substitution - Missense	Skin
COSM907748	c.5899C>T	p.L1967L	Substitution - coding silent	Endometrium
COSM1133050	c.5803G>T	p.E1935*	Substitution - Nonsense	Endometrium
COSM1602160	c.6747_6748delAG	p.E2250fs*27	Deletion - Frameshift	Liver
COSM251401	c.1210C>T	p.Q404*	Substitution - Nonsense	Liver
COSM1341410	c.4062delC	p.S1356fs*125	Deletion - Frameshift	Large_intestine
COSM680167	c.6311C>T	p.S2104F	Substitution - Missense	Stomach
COSM4751600	c.2834G>A	p.G945E	Substitution - Missense	Stomach
COSM5731904	c.2538delC	p.I847fs*12	Deletion - Frameshift	Pancreas
COSM255050	c.5606delG	p.P1870fs*13	Deletion - Frameshift	Urinary_tract
COSM1602138	c.1010delG	p.A339fs*24	Deletion - Frameshift	Liver
COSM1582021	c.6527_6528delAG	p.Q2176fs*48	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4031013	c.3793G>A	p.G1265S	Substitution - Missense	Liver
COSM83884	c.3826C>T	p.R1276*	Substitution - Nonsense	Large_intestine
COSM907726	c.4336C>T	p.R1446*	Substitution - Nonsense	Endometrium
COSM907691	c.1776T>A	p.Y592*	Substitution - Nonsense	Endometrium
COSM51456	c.1108_1108delG	p.Q372fs*19	Deletion - Frameshift	Ovary
COSM3966496	c.1282C>T	p.Q428*	Substitution - Nonsense	Central_nervous_system
COSM5380515	c.3404C>T	p.P1135L	Substitution - Missense	Skin
COSM1602150	c.4494G>A	p.W1498*	Substitution - Nonsense	Liver
COSM1473817	c.5841G>T	p.Q1947H	Substitution - Missense	Breast
COSM1580528	c.5944G>A	p.V1982I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM51251	c.1650_1651insC	p.Y551fs*72	Insertion - Frameshift	Ovary
COSM132994	c.1657C>T	p.Q553*	Substitution - Nonsense	Large_intestine
COSM254543	c.5698G>A	p.D1900N	Substitution - Missense	Urinary_tract
COSM907765	c.6762C>G	p.Y2254*	Substitution - Nonsense	Liver
COSM5347228	c.?_?del?	p.N1070fs*?	Deletion - Frameshift	Endometrium
COSM132992	c.6259G>A	p.G2087R	Substitution - Missense	Oesophagus
COSM51475	c.4582C>T	p.R1528*	Substitution - Nonsense	Endometrium
COSM5511475	c.2653delC	p.P886fs*5	Deletion - Frameshift	Biliary_tract
COSM2235449	c.2102G>C	p.G701A	Substitution - Missense	Large_intestine
COSM3804822	c.5619C>T	p.P1873P	Substitution - coding silent	Breast
COSM51423	c.1644_1645insC	p.Y551fs*72	Insertion - Frameshift	Ovary
COSM130413	c.2830C>T	p.Q944*	Substitution - Nonsense	Cervix
COSM328952	c.3633T>A	p.Y1211*	Substitution - Nonsense	Liver
COSM132992	c.6259G>A	p.G2087R	Substitution - Missense	Endometrium
COSM1667291	c.5119A>G	p.S1707G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3711308	c.2073C>A	p.G691G	Substitution - coding silent	Upper_aerodigestive_tract
COSM5950166	c.185delC	p.V63fs*38	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1639812	c.2253delT	p.Y752fs*81	Deletion - Frameshift	Stomach
COSM2235557	c.6096A>G	p.E2032E	Substitution - coding silent	Upper_aerodigestive_tract
COSM4031010	c.3469G>T	p.G1157*	Substitution - Nonsense	Large_intestine
COSM5607843	c.5791G>A	p.E1931K	Substitution - Missense	Skin
COSM4984816	c.?	p.S303fs*50	Frameshift	Lung
COSM5981955	c.4214_4214delT	p.L1405fs*76	Deletion - Frameshift	Stomach
COSM51414	c.6018_6020delGCT	p.L2007del	Deletion - In frame	Endometrium
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Endometrium
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Large_intestine
COSM254549	c.5009G>A	p.W1670*	Substitution - Nonsense	Urinary_tract
COSM3704483	c.2899A>G	p.M967V	Substitution - Missense	Liver
COSM5945935	c.1268G>A	p.G423E	Substitution - Missense	Skin
COSM1636668	c.?	p.G414*	Substitution - Nonsense	Urinary_tract
COSM1238047	c.?	p.Q1334_R1335insQ	Insertion - In frame	Biliary_tract
COSM3704482	c.2879-1G>A	p.?	Unknown	Liver
COSM4652335	c.2331C>T	p.S777S	Substitution - coding silent	Large_intestine
COSM1665355	c.2397delG	p.G801fs*32	Deletion - Frameshift	Kidney
COSM83884	c.3826C>T	p.R1276*	Substitution - Nonsense	Endometrium
COSM1341430	c.6415delC	p.F2141fs*59	Deletion - Frameshift	Large_intestine
COSM1602150	c.4494G>A	p.W1498*	Substitution - Nonsense	Liver
COSM384178	c.1577C>T	p.P526L	Substitution - Missense	Lung
COSM4497057	c.4895C>T	p.P1632L	Substitution - Missense	Skin
COSM217037	c.3843T>G	p.Y1281*	Substitution - Nonsense	Liver
COSM133029	c.3977_3977delC	p.P1326fs*155	Deletion - Frameshift	Prostate
COSM83884	c.3826C>T	p.R1276*	Substitution - Nonsense	Stomach
COSM51490	c.3660_3684del25	p.M1220fs*9	Deletion - Frameshift	Ovary
COSM3746178	c.2879-2A>G	p.?	Unknown	Liver
COSM1666862	c.?	p.?	Unknown	Endometrium
COSM391268	c.2836delC	p.P947fs*21	Deletion - Frameshift	Lung
COSM4751600	c.2834G>A	p.G945E	Substitution - Missense	Skin
COSM1602157	c.6393T>G	p.N2131K	Substitution - Missense	Liver
COSM51236	c.2122C>T	p.Q708*	Substitution - Nonsense	Ovary
COSM4500635	c.5705C>T	p.P1902L	Substitution - Missense	Skin
COSM4949635	c.31_56del26	p.S11fs*91	Deletion - Frameshift	Salivary_gland
COSM5583289	c.2039C>T	p.P680L	Substitution - Missense	Skin
COSM1296223	c.3283C>T	p.Q1095*	Substitution - Nonsense	Stomach
COSM130413	c.2830C>T	p.Q944*	Substitution - Nonsense	Breast
COSM5353399	c.1153G>T	p.D385Y	Substitution - Missense	Large_intestine
COSM5807535	c.3164A>G	p.Y1055C	Substitution - Missense	Liver
COSM1245442	c.1951_1952insT	p.M651fs*25	Insertion - Frameshift	Oesophagus
COSM4765101	c.1379_1380insGC	p.S460fs*160	Insertion - Frameshift	Stomach
COSM5346955	c.3904_3905insCTGGGGCC	p.P1305fs*179	Insertion - Frameshift	Endometrium
COSM1742796	c.2445T>G	p.Y815*	Substitution - Nonsense	Biliary_tract
COSM4988534	c.358C>T	p.P120S	Substitution - Missense	Endometrium
COSM5346957	c.5420_5421insT	p.K1808fs*1	Insertion - Frameshift	Endometrium
COSM251388	c.5770G>AA	p.E1924fs	Complex	Liver
COSM51433	c.645C>A	p.Y215*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM400776	c.1314G>A	p.A438A	Substitution - coding silent	Lung
COSM4765108	c.6415_6416insC	p.F2141fs*9	Insertion - Frameshift	Stomach
COSM2235488	c.3277delA	p.K1094fs*67	Deletion - Frameshift	Large_intestine
COSM4031020	c.5125-1G>A	p.?	Unknown	Stomach
COSM5346943	c.267_268delCA	p.S90fs*20	Deletion - Frameshift	Endometrium
COSM907698	c.2248C>T	p.R750*	Substitution - Nonsense	Endometrium
COSM4663231	c.4971G>T	p.R1657S	Substitution - Missense	Large_intestine
COSM1341427	c.5966G>T	p.R1989L	Substitution - Missense	Endometrium
COSM4990559	c.6030C>T	p.I2010I	Substitution - coding silent	Skin
COSM1639810	c.885_888delCAAC	p.Q297fs*65	Deletion - Frameshift	Stomach
COSM907743	c.5568G>T	p.Q1856H	Substitution - Missense	Endometrium
COSM1473814	c.2016G>A	p.E672E	Substitution - coding silent	Breast
COSM907685	c.1449_1450insCC	p.Y485fs*135	Insertion - Frameshift	Endometrium
COSM211771	c.2023_2032del10	p.N675fs*64	Deletion - Frameshift	Endometrium
COSM1245441	c.6418_6428del11	p.F2141fs*5	Deletion - Frameshift	Oesophagus
COSM4808707	c.5918G>A	p.W1973*	Substitution - Nonsense	Pancreas
COSM1644335	c.5541_5542insG	p.D1850fs*4	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211772	c.2368C>T	p.Q790*	Substitution - Nonsense	Endometrium
COSM534555	c.1303C>T	p.Q435*	Substitution - Nonsense	Endometrium
COSM3724472	c.5336A>G	p.E1779G	Substitution - Missense	Pancreas
COSM4998739	c.4480_4481insAA	p.G1495fs*11	Insertion - Frameshift	Pancreas
COSM211766	c.5701G>T	p.G1901*	Substitution - Nonsense	Endometrium
COSM51440	c.1441C>T	p.Q481*	Substitution - Nonsense	Lung
COSM96942	c.?	p.M981*	Substitution - Nonsense	Pancreas
COSM5025217	c.3162_3163insT	p.Y1055fs*50	Insertion - Frameshift	Breast
COSM51434	c.5539_5539delG	p.G1847fs*36	Deletion - Frameshift	Ovary
COSM4577170	c.5635C>A	p.R1879R	Substitution - coding silent	Bone
COSM1666862	c.?	p.?	Unknown	Endometrium
COSM4663228	c.4349_4350insC	p.Q1452fs*39	Insertion - Frameshift	Large_intestine
COSM3943840	c.6180C>T	p.T2060T	Substitution - coding silent	Ovary
COSM254549	c.5009G>A	p.W1670*	Substitution - Nonsense	Urinary_tract
COSM414507	c.1841C>T	p.S614L	Substitution - Missense	Urinary_tract
COSM1296221	c.1765C>T	p.Q589*	Substitution - Nonsense	Biliary_tract
COSM254545	c.3590C>G	p.S1197C	Substitution - Missense	Urinary_tract
COSM255179	c.3216_3216delA	p.K1072fs*21	Deletion - Frameshift	Ovary
COSM1602145	c.3467A>G	p.E1156G	Substitution - Missense	Liver
COSM1602143	c.2732+1G>C	p.?	Unknown	Liver
COSM4031017	c.4381C>T	p.R1461*	Substitution - Nonsense	Endometrium
COSM83884	c.3826C>T	p.R1276*	Substitution - Nonsense	Large_intestine
COSM51441	c.5161C>T	p.R1721*	Substitution - Nonsense	Skin
COSM184236	c.2077C>T	p.R693*	Substitution - Nonsense	Endometrium
COSM907726	c.4336C>T	p.R1446*	Substitution - Nonsense	Oesophagus
COSM1242007	c.3211delA	p.K1072fs*21	Deletion - Frameshift	Oesophagus
COSM1341415	c.4421delA	p.N1475fs*6	Deletion - Frameshift	Large_intestine
COSM3732861	c.6391_6392insA	p.N2131fs*19	Insertion - Frameshift	Stomach
COSM3984935	c.2234G>A	p.S745N	Substitution - Missense	Kidney
COSM1238048	c.?	p.Q1363*	Substitution - Nonsense	Urinary_tract
COSM254548	c.1850C>G	p.S617*	Substitution - Nonsense	Urinary_tract
COSM5347108	c.342C>G	p.N114K	Substitution - Missense	Endometrium
COSM5930414	c.2095C>T	p.P699S	Substitution - Missense	Skin
COSM1296224	c.3598C>T	p.Q1200*	Substitution - Nonsense	Skin
COSM3734739	c.?	p.Y215*	Substitution - Nonsense	Urinary_tract
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Stomach
COSM51459	c.4640_4640delC	p.H1548fs*17	Deletion - Frameshift	Ovary
COSM51223	c.4635G>A	p.W1545*	Substitution - Nonsense	Ovary
COSM5985622	c.?	p.R2158*	Substitution - Nonsense	Salivary_gland
COSM1134876	c.3731C>A	p.P1244H	Substitution - Missense	Kidney
COSM3997461	c.2106T>C	p.S702S	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM4663222	c.2208C>A	p.I736I	Substitution - coding silent	Large_intestine
COSM5042632	c.1433C>T	p.P478L	Substitution - Missense	Liver
COSM211767	c.1010_1010delG	p.A339fs*24	Deletion - Frameshift	Endometrium
COSM2235552	c.5839C>T	p.Q1947*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5947406	c.3678T>G	p.Y1226*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1667290	c.4388G>A	p.R1463H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM254547	c.4750C>T	p.Q1584*	Substitution - Nonsense	Urinary_tract
COSM907717	c.3916C>T	p.Q1306*	Substitution - Nonsense	Endometrium
COSM28394	c.4238C>T	p.A1413V	Substitution - Missense	Kidney
COSM5818628	c.2255A>C	p.Y752S	Substitution - Missense	Liver
COSM51254	c.5904_5905insGT	p.T1969fs*47	Insertion - Frameshift	Ovary
COSM426008	c.3715G>A	p.A1239T	Substitution - Missense	Breast
COSM1296224	c.3598C>T	p.Q1200*	Substitution - Nonsense	Skin
COSM5347210	c.?_?del?	p.A2205fs*?	Deletion - Frameshift	Endometrium
COSM1639819	c.4550delC	p.Q1519fs*8	Deletion - Frameshift	Stomach
COSM51437	c.4165T>C	p.Y1389H	Substitution - Missense	Ovary
COSM79136	c.5122C>T	p.Q1708*	Substitution - Nonsense	Ovary
COSM907726	c.4336C>T	p.R1446*	Substitution - Nonsense	Large_intestine
COSM3487584	c.3961C>T	p.P1321S	Substitution - Missense	Skin
COSM140918	c.4439T>C	p.M1480T	Substitution - Missense	Upper_aerodigestive_tract
COSM907723	c.4003C>T	p.R1335*	Substitution - Nonsense	Endometrium
COSM1341426	c.5542delG	p.D1850fs*33	Deletion - Frameshift	Stomach
COSM251352	c.315_334del20	p.N106fs*4	Deletion - Frameshift	Liver
COSM4751592	c.1197C>G	p.N399K	Substitution - Missense	Stomach
COSM51235	c.1873C>T	p.Q625*	Substitution - Nonsense	Ovary
COSM907723	c.4003C>T	p.R1335*	Substitution - Nonsense	Endometrium
COSM51239	c.1341T>G	p.Y447*	Substitution - Nonsense	Ovary
COSM1235377	c.4993+93C>G	p.?	Unknown	Breast
COSM1741237	c.1375C>G	p.P459A	Substitution - Missense	Urinary_tract
COSM1666862	c.?	p.?	Unknown	Urinary_tract
COSM3665401	c.4993delG	p.G1665fs*8	Deletion - Frameshift	Liver
COSM5347042	c.824G>C	p.G275A	Substitution - Missense	Endometrium
COSM4885538	c.1293G>A	p.P431P	Substitution - coding silent	Upper_aerodigestive_tract
COSM4845559	c.3049G>A	p.E1017K	Substitution - Missense	Cervix
COSM5414961	c.?	p.?	Unknown	Endometrium
COSM5346942	c.6527delA	p.Q2176fs*24	Deletion - Frameshift	Endometrium
COSM2235432	c.1813C>T	p.Q605*	Substitution - Nonsense	Stomach
COSM51463	c.13_14ins28	p.V5fs*115	Insertion - Frameshift	Ovary
COSM5352302	c.?	p.G2087R	Substitution - Missense	Endometrium
COSM51417	c.4201C>T	p.Q1401*	Substitution - Nonsense	Ovary
COSM5347218	c.?_?del?	p.P726fs*?	Deletion - Frameshift	Endometrium
COSM21759	c.2064C>T	p.H688H	Substitution - coding silent	Skin
COSM51429	c.6415_6415delC	p.F2141fs*59	Deletion - Frameshift	Ovary
COSM5369887	c.4544_4553del10	p.G1515fs*9	Deletion - Frameshift	Cervix
COSM3355772	c.3855_3861delTGACAGA	p.Y1285fs*1	Deletion - Frameshift	Breast
COSM3732990	c.5192T>A	p.L1731*	Substitution - Nonsense	Stomach
COSM2235456	c.2291delC	p.Q766fs*67	Deletion - Frameshift	Endometrium
COSM3734738	c.?	p.E1767*	Substitution - Nonsense	Urinary_tract
COSM1644335	c.5541_5542insG	p.D1850fs*4	Insertion - Frameshift	Salivary_gland
COSM1602157	c.6393T>G	p.N2131K	Substitution - Missense	Liver
COSM251352	c.315_334del20	p.N106fs*4	Deletion - Frameshift	Liver
COSM1602146	c.3909G>T	p.G1303G	Substitution - coding silent	Liver
COSM5352923	c.4237G>A	p.A1413T	Substitution - Missense	Large_intestine
COSM5346999	c.6763G>T	p.E2255*	Substitution - Nonsense	Endometrium
COSM4746832	c.5641_5650del10	p.H1881fs*39	Deletion - Frameshift	Stomach
COSM1745401	c.3584delG	p.S1195fs*11	Deletion - Frameshift	Urinary_tract
COSM907698	c.2248C>T	p.R750*	Substitution - Nonsense	Endometrium
COSM5607830	c.3611C>T	p.S1204F	Substitution - Missense	Skin
COSM4414013	c.4200T>C	p.P1400P	Substitution - coding silent	Kidney
COSM5444730	c.5152G>T	p.E1718*	Substitution - Nonsense	Oesophagus
COSM211765	c.2352_2353insG	p.M785fs*32	Insertion - Frameshift	Endometrium
COSM907709	c.3353_3354insTG	p.A1119fs*43	Insertion - Frameshift	Endometrium
COSM1602134	c.666delC	p.P224fs*8	Deletion - Frameshift	Stomach
COSM1245443	c.5272_5288del17	p.P1758fs*9	Deletion - Frameshift	Oesophagus
COSM1666858	c.?	p.W337*	Substitution - Nonsense	Lung
COSM211768	c.6298C>T	p.Q2100*	Substitution - Nonsense	Pancreas
COSM1639806	c.275_291del17	p.G92fs*13	Deletion - Frameshift	Stomach
COSM1283497	c.5825G>A	p.G1942D	Substitution - Missense	Autonomic_ganglia
COSM4413601	c.6493G>C	p.E2165Q	Substitution - Missense	Endometrium
COSM327767	c.5425T>C	p.F1809L	Substitution - Missense	Skin
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Breast
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Breast
COSM1296226	c.4087C>T	p.Q1363*	Substitution - Nonsense	Urinary_tract
COSM5502186	c.1055G>A	p.G352E	Substitution - Missense	Biliary_tract
COSM1296220	c.1696C>T	p.Q566*	Substitution - Nonsense	Urinary_tract
COSM680179	c.1473C>A	p.S491S	Substitution - coding silent	Lung
COSM5574172	c.5606G>A	p.R1869Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM907683	c.1298delC	p.M434fs*185	Deletion - Frameshift	Endometrium
COSM1639819	c.4550delC	p.Q1519fs*8	Deletion - Frameshift	Large_intestine
COSM4961597	c.6191T>A	p.L2064H	Substitution - Missense	Pancreas
COSM5010505	c.3645G>T	p.M1215I	Substitution - Missense	Kidney
COSM3804817	c.1606T>C	p.S536P	Substitution - Missense	Breast
COSM51217	c.3391_3391delC	p.Q1131fs*30	Deletion - Frameshift	Ovary
COSM254544	c.5221C>T	p.Q1741*	Substitution - Nonsense	Urinary_tract
COSM4472645	c.1798C>T	p.P600S	Substitution - Missense	Skin
COSM51421	c.5953T>C	p.S1985P	Substitution - Missense	Endometrium
COSM5607840	c.1675C>T	p.P559S	Substitution - Missense	Skin
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Endometrium
COSM3943838	c.959C>T	p.P320L	Substitution - Missense	Ovary
COSM4165144	c.2754G>T	p.M918I	Substitution - Missense	Kidney
COSM4765105	c.4550_4551insC	p.Q1519fs*13	Insertion - Frameshift	Stomach
COSM254539	c.6381C>G	p.I2127M	Substitution - Missense	Urinary_tract
COSM3726771	c.2231C>G	p.S744*	Substitution - Nonsense	Stomach
COSM907695	c.2179_2188delCGGCCACCCA	p.R727fs*12	Deletion - Frameshift	Endometrium
COSM217038	c.6251T>A	p.V2084D	Substitution - Missense	Liver
COSM254551	c.1897C>T	p.Q633*	Substitution - Nonsense	Urinary_tract
COSM1578112	c.1841C>G	p.S614*	Substitution - Nonsense	Urinary_tract
COSM1159149	c.2929_2932delCCAG	p.A978fs*3	Deletion - Frameshift	Pancreas
COSM1580528	c.5944G>A	p.V1982I	Substitution - Missense	Soft_tissue
COSM1730938	c.3319A>G	p.I1107V	Substitution - Missense	Liver
COSM5347121	c.5635C>T	p.R1879W	Substitution - Missense	Endometrium
COSM1245447	c.1207C>T	p.Q403*	Substitution - Nonsense	Oesophagus
COSM217037	c.3843T>G	p.Y1281*	Substitution - Nonsense	Liver
COSM1602142	c.2530C>T	p.Q844*	Substitution - Nonsense	Liver
COSM4995439	c.6536G>T	p.S2179I	Substitution - Missense	Upper_aerodigestive_tract
COSM5985647	c.?	p.V2046L	Substitution - Missense	Salivary_gland
COSM1741943	c.3951_3952insGG	p.M1318fs*164	Insertion - Frameshift	Urinary_tract
COSM5490626	c.4993G>T	p.G1665*	Substitution - Nonsense	Biliary_tract
COSM1639822	c.5689delC	p.P1898fs*25	Deletion - Frameshift	Oesophagus
COSM4949888	c.128_129insGGC	p.A45_E46insA	Insertion - In frame	Liver
COSM5985657	c.?	p.P1484fs*10	Frameshift	Lung
COSM4031000	c.526C>T	p.Q176*	Substitution - Nonsense	Liver
COSM51223	c.4635G>A	p.W1545*	Substitution - Nonsense	Lung
COSM51234	c.3634_3644del11	p.Q1212fs*4	Deletion - Frameshift	Ovary
COSM184236	c.2077C>T	p.R693*	Substitution - Nonsense	Salivary_gland
COSM5576310	c.3594delA	p.F1199fs*7	Deletion - Frameshift	Stomach
COSM3804821	c.4878A>C	p.A1626A	Substitution - coding silent	Breast
COSM3734737	c.?	p.S1356fs*101	Frameshift	Urinary_tract
COSM4951080	c.4995_4996insA	p.T1666fs*32	Insertion - Frameshift	Liver
COSM51460	c.6664_6665delCC	p.P2222fs*2	Deletion - Frameshift	Ovary
COSM1245446	c.2750A>G	p.N917S	Substitution - Missense	Stomach
COSM1235372	c.4124G>C	p.G1375A	Substitution - Missense	Breast
COSM5981953	c.3977_3978insC	p.Q1327fs*11	Insertion - Frameshift	Stomach
COSM144170	c.1592C>T	p.P531L	Substitution - Missense	Breast
COSM328014	c.6746_6747ins?	p.(2287)fs	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5945936	c.3605G>A	p.R1202Q	Substitution - Missense	Skin
COSM28394	c.4238C>T	p.A1413V	Substitution - Missense	Kidney
COSM907759	c.6704delC	p.R2236fs*31	Deletion - Frameshift	Endometrium
COSM3487588	c.5796C>T	p.A1932A	Substitution - coding silent	Skin
COSM83884	c.3826C>T	p.R1276*	Substitution - Nonsense	Endometrium
COSM5963216	c.583T>C	p.Y195H	Substitution - Missense	Breast
COSM251421	c.6260G>A	p.G2087E	Substitution - Missense	Liver
COSM132992	c.6259G>A	p.G2087R	Substitution - Missense	Pancreas
COSM51482	c.470_486del17	p.P158fs*236	Deletion - Frameshift	Ovary
COSM51431	c.805C>T	p.Q269*	Substitution - Nonsense	Endometrium
COSM184236	c.2077C>T	p.R693*	Substitution - Nonsense	Endometrium
COSM254540	c.6806C>T	p.S2269L	Substitution - Missense	Urinary_tract
COSM5574170	c.3488C>T	p.P1163L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1159268	c.6227_6228insC	p.E2078fs*21	Insertion - Frameshift	Pancreas
COSM3771707	c.532A>T	p.S178C	Substitution - Missense	Pancreas
COSM133020	c.969_975delGGGCGCC	p.G324fs*37	Deletion - Frameshift	Stomach
COSM51240	c.3442_3442delC	p.Q1148fs*13	Deletion - Frameshift	Ovary
COSM254538	c.5975C>G	p.S1992*	Substitution - Nonsense	Urinary_tract
COSM4169292	c.?	p.Q563*	Substitution - Nonsense	Biliary_tract
COSM217038	c.6251T>A	p.V2084D	Substitution - Missense	Liver
COSM3724465	c.2519A>G	p.Q840R	Substitution - Missense	Large_intestine
COSM255048	c.2993delC	p.S999fs*40	Deletion - Frameshift	Urinary_tract
COSM5380519	c.4148G>A	p.R1383Q	Substitution - Missense	Skin
COSM85584	c.5947_5948delTG	p.S1985fs*13	Deletion - Frameshift	Stomach
COSM5352281	c.?	p.V1982I	Substitution - Missense	Endometrium
COSM5989349	c.3230C>G	p.A1077G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1341403	c.2144C>T	p.S715L	Substitution - Missense	Large_intestine
COSM5516144	c.4560C>T	p.G1520G	Substitution - coding silent	Biliary_tract
COSM3741200	c.5293G>T	p.E1765*	Substitution - Nonsense	Liver
COSM328953	c.3635A>T	p.Q1212L	Substitution - Missense	Liver
COSM1165310	c.2110G>A	p.A704T	Substitution - Missense	Large_intestine
COSM51433	c.645C>A	p.Y215*	Substitution - Nonsense	Ovary
COSM5611225	c.6223_6224CC>TT	p.P2075L	Substitution - Missense	Skin
COSM1602148	c.3972delC	p.P1326fs*155	Deletion - Frameshift	Stomach
COSM51418	c.5164C>T	p.R1722*	Substitution - Nonsense	Large_intestine
COSM51441	c.5161C>T	p.R1721*	Substitution - Nonsense	Oesophagus
COSM79136	c.5122C>T	p.Q1708*	Substitution - Nonsense	Stomach
COSM4495906	c.4637C>T	p.P1546L	Substitution - Missense	Skin
COSM5380518	c.4114C>T	p.P1372S	Substitution - Missense	Skin
COSM5347195	c.?_?ins?	p.Q548fs*?	Insertion - Frameshift	Endometrium
COSM4775802	c.4801C>T	p.P1601S	Substitution - Missense	Skin
COSM3773384	c.?	p.I1485fs*5	Unknown	Liver
COSM1666862	c.?	p.?	Unknown	Ovary
COSM907686	c.1469C>T	p.P490L	Substitution - Missense	Endometrium
COSM1133050	c.5803G>T	p.E1935*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1235376	c.3177_3178delGG	p.E1060fs*44	Deletion - Frameshift	Breast
COSM3727110	c.2317C>T	p.P773S	Substitution - Missense	Oesophagus
COSM907730	c.4856C>T	p.P1619L	Substitution - Missense	Endometrium
COSM5352284	c.?	p.A1272V	Substitution - Missense	Endometrium
COSM254544	c.5221C>T	p.Q1741*	Substitution - Nonsense	Urinary_tract
COSM3487581	c.2732+2T>C	p.?	Unknown	Skin
COSM5347019	c.2123A>C	p.Q708P	Substitution - Missense	Endometrium
COSM253303	c.4243_4244insCAGC	p.Q1415fs*31	Insertion - Frameshift	Ovary
COSM51450	c.6139G>T	p.E2047*	Substitution - Nonsense	Endometrium
COSM5015852	c.2082delC	p.P695fs*47	Deletion - Frameshift	Kidney
COSM5596289	c.4852C>T	p.P1618S	Substitution - Missense	Skin
COSM4878978	c.4652G>A	p.R1551H	Substitution - Missense	Endometrium
COSM51224	c.5202T>A	p.Y1734*	Substitution - Nonsense	Kidney
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Liver
COSM1341430	c.6415delC	p.F2141fs*59	Deletion - Frameshift	Stomach
COSM5347121	c.5635C>T	p.R1879W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4169294	c.?	p.F2141fs*59	Unknown	Biliary_tract
COSM1133048	c.606_607delTC	p.H203fs*196	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4430158	c.4766C>T	p.A1589V	Substitution - Missense	Oesophagus
COSM1602142	c.2530C>T	p.Q844*	Substitution - Nonsense	Endometrium
COSM184236	c.2077C>T	p.R693*	Substitution - Nonsense	Stomach
COSM4031016	c.4337G>A	p.R1446Q	Substitution - Missense	Stomach
COSM4998905	c.5784G>C	p.K1928N	Substitution - Missense	Pancreas
COSM4169391	c.?	p.G800E	Substitution - Missense	Skin
COSM907758	c.6703_6706delGCCC	p.A2237fs*29	Deletion - Frameshift	Endometrium
COSM1235374	c.942C>G	p.G314G	Substitution - coding silent	Breast
COSM1644335	c.5541_5542insG	p.D1850fs*4	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4031008	c.3142C>T	p.P1048S	Substitution - Missense	Stomach
COSM265554	c.2277_2278insC	p.Q761fs*56	Insertion - Frameshift	Large_intestine
COSM907714	c.3712_3715+36del40	p.?	Unknown	Endometrium
COSM1602140	c.1351-2A>G	p.?	Unknown	Liver
COSM4031028	c.6773T>G	p.L2258R	Substitution - Missense	Stomach
COSM5347129	c.1762C>T	p.Q588*	Substitution - Nonsense	Skin
COSM426004	c.1582C>T	p.Q528*	Substitution - Nonsense	Breast
COSM51432	c.6472C>T	p.R2158*	Substitution - Nonsense	Endometrium
COSM133030	c.3999_4001delGCA	p.Q1334del	Deletion - In frame	Prostate
COSM298325	c.3978_3980delGCA	p.Q1334delQ	Deletion - In frame	Stomach
COSM1341430	c.6415delC	p.F2141fs*59	Deletion - Frameshift	Endometrium
COSM4165145	c.5991T>C	p.N1997N	Substitution - coding silent	Kidney
COSM3984938	c.6191T>C	p.L2064P	Substitution - Missense	Kidney
COSM1666862	c.?	p.?	Unknown	Endometrium
COSM5044430	c.3736A>G	p.M1246V	Substitution - Missense	Kidney
COSM5347085	c.3763G>A	p.G1255R	Substitution - Missense	Endometrium
COSM5752245	c.6533delA	p.D2178fs*22	Deletion - Frameshift	Breast
COSM1242007	c.3211delA	p.K1072fs*21	Deletion - Frameshift	Large_intestine
COSM1341430	c.6415delC	p.F2141fs*59	Deletion - Frameshift	Stomach
COSM1721511	c.2683C>T	p.Q895*	Substitution - Nonsense	Biliary_tract
COSM2235456	c.2291delC	p.Q766fs*67	Deletion - Frameshift	Central_nervous_system
COSM5347075	c.4839G>A	p.M1613I	Substitution - Missense	Endometrium
COSM4950826	c.1705G>A	p.A569T	Substitution - Missense	Liver
COSM51432	c.6472C>T	p.R2158*	Substitution - Nonsense	Endometrium
COSM51445	c.4709_4712delCTAA	p.N1571fs*40	Deletion - Frameshift	Ovary
COSM217035	c.1169_1170insT	p.M390fs*10	Insertion - Frameshift	Liver
COSM5823610	c.4990A>T	p.I1664F	Substitution - Missense	Liver
COSM5945934	c.2218T>C	p.S740P	Substitution - Missense	Skin
COSM4767416	c.6563A>G	p.Q2188R	Substitution - Missense	Biliary_tract
COSM1602148	c.3972delC	p.P1326fs*155	Deletion - Frameshift	Pancreas
COSM251400	c.3424C>T	p.Q1142*	Substitution - Nonsense	Liver
COSM51435	c.2427_2427delC	p.R811fs*22	Deletion - Frameshift	Ovary
COSM414505	c.4591G>T	p.E1531*	Substitution - Nonsense	Urinary_tract
COSM4663223	c.3210_3211insA	p.W1073fs*32	Insertion - Frameshift	Large_intestine
COSM51465	c.6196A>G	p.N2066D	Substitution - Missense	Urinary_tract
COSM51233	c.782_791del10	p.S261fs*99	Deletion - Frameshift	Ovary
COSM1639824	c.6641G>C	p.S2214T	Substitution - Missense	Stomach
COSM5347034	c.356A>G	p.E119G	Substitution - Missense	Endometrium
COSM266034	c.1446G>A	p.Q482Q	Substitution - coding silent	Large_intestine
COSM254542	c.5338G>T	p.E1780*	Substitution - Nonsense	Urinary_tract
COSM4031001	c.1438C>T	p.Q480*	Substitution - Nonsense	Stomach
COSM254549	c.5009G>A	p.W1670*	Substitution - Nonsense	Liver
COSM1602144	c.3299T>G	p.L1100R	Substitution - Missense	Liver
COSM4990560	c.6312C>T	p.S2104S	Substitution - coding silent	Skin
COSM4951069	c.1113delG	p.Q372fs*19	Deletion - Frameshift	Liver
COSM5752258	c.2180_2195del16	p.P728fs*9	Deletion - Frameshift	Breast
COSM5214440	c.3447delA	p.T1150fs*11	Deletion - Frameshift	Breast
COSM217036	c.3817_3841del25	p.G1274fs*7	Deletion - Frameshift	Liver
COSM3804819	c.3819G>A	p.M1273I	Substitution - Missense	Breast
COSM1235370	c.1043C>A	p.A348D	Substitution - Missense	Breast
COSM211773	c.1996_2000delATTTC	p.I666fs*8	Deletion - Frameshift	Endometrium
COSM1296219	c.1655C>T	p.S552L	Substitution - Missense	Urinary_tract
COSM1183544	c.6428G>A	p.R2143H	Substitution - Missense	Large_intestine
COSM144171	c.4270C>T	p.Q1424*	Substitution - Nonsense	Cervix
COSM1341430	c.6415delC	p.F2141fs*59	Deletion - Frameshift	Endometrium
COSM3720865	c.2133A>T	p.S711S	Substitution - coding silent	Upper_aerodigestive_tract
COSM4170635	c.2086_2087insC	p.S698fs*119	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5025218	c.6562C>T	p.Q2188*	Substitution - Nonsense	Breast
COSM5347227	c.?_?ins?	p.G1449fs*?	Insertion - Frameshift	Endometrium
COSM1602137	c.997G>A	p.A333T	Substitution - Missense	Liver
COSM5949788	c.751C>T	p.P251S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1725796	c.4807A>T	p.K1603*	Substitution - Nonsense	Liver
COSM907716	c.3862G>A	p.V1288M	Substitution - Missense	Endometrium
COSM1602161	c.6765A>C	p.E2255D	Substitution - Missense	Liver
COSM5347080	c.2615T>C	p.M872T	Substitution - Missense	Endometrium
COSM1667289	c.4367C>T	p.P1456L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM680175	c.2879G>T	p.G960V	Substitution - Missense	Lung
COSM907713	c.3562C>T	p.Q1188*	Substitution - Nonsense	Endometrium
COSM51232	c.1663C>T	p.Q555*	Substitution - Nonsense	Ovary
COSM5752683	c.6115C>T	p.Q2039*	Substitution - Nonsense	Breast
COSM907723	c.4003C>T	p.R1335*	Substitution - Nonsense	Large_intestine
COSM79135	c.1991C>G	p.S664*	Substitution - Nonsense	Ovary
COSM251387	c.3818_3843>G	p.M1273fs	Complex	Liver
COSM907708	c.3269G>T	p.S1090I	Substitution - Missense	Endometrium
COSM907726	c.4336C>T	p.R1446*	Substitution - Nonsense	Oesophagus
COSM51215	c.3659_3684del26	p.M1220fs*2	Deletion - Frameshift	Ovary
COSM4169919	c.2608C>A	p.P870T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1296223	c.3283C>T	p.Q1095*	Substitution - Nonsense	Urinary_tract
COSM4170636	c.4834_4835delAA	p.K1612fs*35	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5015851	c.1290delC	p.P431fs*2	Deletion - Frameshift	Kidney
COSM5981952	c.400_400delG	p.A134fs*98	Deletion - Frameshift	Stomach
COSM51483	c.4624G>T	p.E1542*	Substitution - Nonsense	Ovary
COSM51455	c.2718_2719insCT	p.S907fs*13	Insertion - Frameshift	Ovary
COSM5346991	c.6731T>G	p.V2244G	Substitution - Missense	Endometrium
COSM907718	c.3949G>T	p.G1317W	Substitution - Missense	Endometrium
COSM4939599	c.4994-2A>T	p.?	Unknown	Liver
COSM133022	c.4893_4894insC	p.M1634fs*14	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1159149	c.2929_2932delCCAG	p.A978fs*3	Deletion - Frameshift	Pancreas
COSM907688	c.1530G>A	p.Q510Q	Substitution - coding silent	Endometrium
COSM1341430	c.6415delC	p.F2141fs*59	Deletion - Frameshift	Large_intestine
COSM5347032	c.2302G>A	p.G768S	Substitution - Missense	Endometrium
COSM680171	c.4014C>T	p.S1338S	Substitution - coding silent	Lung
COSM1602162	c.6767C>G	p.S2256*	Substitution - Nonsense	Liver
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Endometrium
COSM251399	c.2632C>T	p.Q878*	Substitution - Nonsense	Urinary_tract
COSM51441	c.5161C>T	p.R1721*	Substitution - Nonsense	Endometrium
COSM907761	c.6708C>T	p.R2236R	Substitution - coding silent	Endometrium
COSM1659160	c.2402delG	p.G801fs*32	Deletion - Frameshift	Kidney
COSM5346992	c.2078G>A	p.R693Q	Substitution - Missense	Endometrium
COSM1667286	c.1683G>C	p.Q561H	Substitution - Missense	Large_intestine
COSM4169297	c.?	p.G314fs*49	Unknown	Biliary_tract
COSM1639808	c.822delG	p.G276fs*87	Deletion - Frameshift	Large_intestine
COSM1192095	c.3292C>T	p.Q1098*	Substitution - Nonsense	Endometrium
COSM133004	c.5548_5549insG	p.D1850fs*4	Insertion - Frameshift	Breast
COSM1687265	c.4372C>T	p.Q1458*	Substitution - Nonsense	Skin
COSM5881226	c.5776G>T	p.G1926*	Substitution - Nonsense	Soft_tissue
COSM251399	c.2632C>T	p.Q878*	Substitution - Nonsense	Liver
COSM133001	c.5548_5548delG	p.D1850fs*33	Deletion - Frameshift	Large_intestine
COSM1133049	c.4808_4848del41	p.K1603fs*31	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5752654	c.1934C>G	p.S645*	Substitution - Nonsense	Breast
COSM1238048	c.?	p.Q1363*	Substitution - Nonsense	Skin
COSM4775802	c.4801C>T	p.P1601S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1582021	c.6527_6528delAG	p.Q2176fs*48	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM133001	c.5548_5548delG	p.D1850fs*33	Deletion - Frameshift	Large_intestine
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Endometrium
COSM130413	c.2830C>T	p.Q944*	Substitution - Nonsense	Breast
COSM1602155	c.5975C>T	p.S1992L	Substitution - Missense	Liver
COSM1667292	c.6005C>T	p.S2002F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5731229	c.5577_5578delCG	p.F1859fs*41	Deletion - Frameshift	Central_nervous_system
COSM907698	c.2248C>T	p.R750*	Substitution - Nonsense	Endometrium
COSM5347201	c.?_?del?	p.Q172fs*?	Deletion - Frameshift	Endometrium
COSM5346916	c.6146_6149delGGTG	p.W2050fs*84	Deletion - Frameshift	Endometrium
COSM132995	c.6228C>A	p.Y2076*	Substitution - Nonsense	Large_intestine
COSM4965578	c.1963G>T	p.G655*	Substitution - Nonsense	Endometrium
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Pancreas
COSM4501827	c.5994C>T	p.D1998D	Substitution - coding silent	Skin
COSM251386	c.2184_2198>T	p.P728fs	Complex	Liver
COSM1341435	c.6706C>T	p.R2236C	Substitution - Missense	Large_intestine
COSM332817	c.1435C>T	p.Q479*	Substitution - Nonsense	Lung
COSM1644335	c.5541_5542insG	p.D1850fs*4	Insertion - Frameshift	Large_intestine
COSM4412985	c.5138T>A	p.L1713Q	Substitution - Missense	Oesophagus
COSM51458	c.6001_6002insCA	p.M2001fs*15	Insertion - Frameshift	Ovary
COSM51431	c.805C>T	p.Q269*	Substitution - Nonsense	Ovary
COSM130413	c.2830C>T	p.Q944*	Substitution - Nonsense	Breast
COSM5938566	c.4769C>T	p.P1590L	Substitution - Missense	Skin
COSM3734736	c.?	p.V661fs*15	Frameshift	Urinary_tract
COSM51461	c.2290_2291insC	p.Q766fs*51	Insertion - Frameshift	Large_intestine
COSM251355	c.6572_6580delGTATCGGCA	p.S2191_G2193delSIG	Deletion - In frame	Liver
COSM4951234	c.3254C>G	p.S1085*	Substitution - Nonsense	Liver
COSM1718089	c.6416C>A	p.P2139H	Substitution - Missense	Large_intestine
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Oesophagus
COSM51441	c.5161C>T	p.R1721*	Substitution - Nonsense	Stomach
COSM5347110	c.1559A>G	p.Q520R	Substitution - Missense	Endometrium
COSM3966498	c.4093C>T	p.Q1365*	Substitution - Nonsense	Central_nervous_system
COSM51464	c.1627C>T	p.Q543*	Substitution - Nonsense	Ovary
COSM1582021	c.6527_6528delAG	p.Q2176fs*48	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5560264	c.3900G>A	p.M1300I	Substitution - Missense	Prostate
COSM4476157	c.2048C>T	p.P683L	Substitution - Missense	Skin
COSM5752848	c.2267_2268insC	p.Q758fs*59	Insertion - Frameshift	Breast
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Large_intestine
COSM4951278	c.320_329del10	p.A107fs*4	Deletion - Frameshift	Liver
COSM4949632	c.1918C>G	p.P640A	Substitution - Missense	Liver
COSM5752683	c.6115C>T	p.Q2039*	Substitution - Nonsense	Breast
COSM5490625	c.5010G>A	p.W1670*	Substitution - Nonsense	Biliary_tract
COSM51238	c.6702_6702delT	p.A2235fs*32	Deletion - Frameshift	Ovary
COSM5347127	c.3982C>T	p.Q1328*	Substitution - Nonsense	Endometrium
COSM680170	c.4101G>A	p.Q1367Q	Substitution - coding silent	Lung
COSM5348559	c.4996_4997insA	p.T1666fs*32	Insertion - Frameshift	Liver
COSM51446	c.1177C>T	p.Q393*	Substitution - Nonsense	Ovary
COSM251386	c.2184_2198>T	p.P728fs	Complex	Liver
COSM907766	c.6806C>A	p.S2269*	Substitution - Nonsense	Endometrium
COSM3360810	c.6066A>C	p.P2022P	Substitution - coding silent	Kidney
COSM4765107	c.5542_5543insG	p.D1850fs*4	Insertion - Frameshift	Stomach
COSM5346990	c.3220C>T	p.R1074W	Substitution - Missense	Endometrium
COSM5346997	c.2732G>T	p.R911M	Substitution - Missense	Endometrium
COSM5347003	c.5299G>T	p.E1767*	Substitution - Nonsense	Endometrium
COSM5607833	c.1722C>T	p.S574S	Substitution - coding silent	Skin
COSM464363	c.3016G>T	p.E1006*	Substitution - Nonsense	Kidney
COSM5990637	c.5794G>A	p.A1932T	Substitution - Missense	Liver
COSM1602137	c.997G>A	p.A333T	Substitution - Missense	Large_intestine
COSM1727600	c.2378_2379delTG	p.M793fs*23	Deletion - Frameshift	Liver
COSM1317546	c.4973G>A	p.R1658Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1602142	c.2530C>T	p.Q844*	Substitution - Nonsense	Liver
COSM83884	c.3826C>T	p.R1276*	Substitution - Nonsense	Pancreas
COSM133030	c.3999_4001delGCA	p.Q1334del	Deletion - In frame	Stomach
COSM5701038	c.3978_3979insGCA	p.P1326_Q1327insA	Insertion - In frame	Soft_tissue
COSM87889	c.1015delG	p.A339fs*24	Deletion - Frameshift	Liver
COSM907723	c.4003C>T	p.R1335*	Substitution - Nonsense	Endometrium
COSM251354	c.6545_6564del20	p.A2182fs*36	Deletion - Frameshift	Liver
COSM3724475	c.1650_1650delC	p.Y551fs*68	Deletion - Frameshift	Stomach
COSM51491	c.3851_3852insA	p.Y1285fs*2	Insertion - Frameshift	Ovary
COSM170579	c.2167C>T	p.Q723*	Substitution - Nonsense	Breast
COSM97864	c.1876G>T	p.E626*	Substitution - Nonsense	Endometrium
COSM251380	c.3281_3282insA	p.Q1095fs*10	Insertion - Frameshift	Liver
COSM5380514	c.2936C>T	p.T979I	Substitution - Missense	Skin
COSM1296224	c.3598C>T	p.Q1200*	Substitution - Nonsense	Skin
COSM907689	c.1669C>T	p.Q557*	Substitution - Nonsense	Endometrium
COSM5347206	c.?_?del?	p.Y222fs*?	Deletion - Frameshift	Endometrium
COSM251351	c.319_328delGCGGGCCCTA	p.A107fs*4	Deletion - Frameshift	Liver
COSM5347190	c.?_?del?	p.G1847fs*?	Deletion - Frameshift	Endometrium
COSM4949634	c.271_281>A	p.G91fs*7	Complex - frameshift	Liver
COSM1687265	c.4372C>T	p.Q1458*	Substitution - Nonsense	Skin
COSM2235470	c.2789A>G	p.Y930C	Substitution - Missense	Stomach
COSM4751600	c.2834G>A	p.G945E	Substitution - Missense	Skin
COSM5010506	c.5113A>G	p.N1705D	Substitution - Missense	Kidney
COSM5352519	c.875delC	p.T294fs*69	Deletion - Frameshift	Bone
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Large_intestine
COSM133009	c.2468_2469insTA	p.P824fs*10	Insertion - Frameshift	Large_intestine
COSM227186	c.1939G>A	p.D647N	Substitution - Missense	Skin
COSM1602139	c.1138-1_1138insCCAT	p.S382fs*19	Unknown	Liver
COSM1639818	c.4350delC	p.Q1452fs*29	Deletion - Frameshift	Stomach
COSM2235571	c.6343C>T	p.Q2115*	Substitution - Nonsense	Skin
COSM5346912	c.1705_1712delGCACCCTC	p.A569fs*51	Deletion - Frameshift	Endometrium
COSM5576312	c.5331_5332delAG	p.E1778fs*5	Deletion - Frameshift	Stomach
COSM4746834	c.6540_6550del11	p.A2181fs*40	Deletion - Frameshift	Stomach
COSM4605745	c.6646C>T	p.L2216F	Substitution - Missense	Upper_aerodigestive_tract
COSM4949633	c.732_744del13	p.A245fs*114	Deletion - Frameshift	Liver
COSM907721	c.3979C>T	p.Q1327*	Substitution - Nonsense	Endometrium
COSM1491984	c.2190T>C	p.S730S	Substitution - coding silent	Kidney
COSM1687264	c.3740_3741CC>TT	p.S1247F	Substitution - Missense	Skin
COSM5352318	c.?	p.?	Unknown	Endometrium
COSM51481	c.1197_1197delC	p.P400fs*33	Deletion - Frameshift	Ovary
COSM907690	c.1681C>T	p.Q561*	Substitution - Nonsense	Endometrium
COSM907756	c.6624delC	p.Q2209fs*22	Deletion - Frameshift	Endometrium
COSM251400	c.3424C>T	p.Q1142*	Substitution - Nonsense	Endometrium
COSM39851	c.46C>T	p.P16S	Substitution - Missense	Central_nervous_system
COSM51441	c.5161C>T	p.R1721*	Substitution - Nonsense	Large_intestine
COSM5347045	c.6632G>A	p.S2211N	Substitution - Missense	Endometrium
COSM5380523	c.6788T>C	p.V2263A	Substitution - Missense	Skin
COSM4169919	c.2608C>A	p.P870T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1162578	c.6270C>G	p.H2090Q	Substitution - Missense	Pancreas
COSM51442	c.5566C>T	p.Q1856*	Substitution - Nonsense	Ovary
COSM5752694	c.1602C>A	p.Y534*	Substitution - Nonsense	Breast
COSM51420	c.5540_5541insG	p.G1848fs*6	Insertion - Frameshift	Endometrium
COSM51446	c.1177C>T	p.Q393*	Substitution - Nonsense	Urinary_tract
COSM5352923	c.4237G>A	p.A1413T	Substitution - Missense	Large_intestine
COSM5347217	c.?_?del?	p.Y1324fs*?	Deletion - Frameshift	Endometrium
COSM251421	c.6260G>A	p.G2087E	Substitution - Missense	Stomach
COSM132992	c.6259G>A	p.G2087R	Substitution - Missense	Breast
COSM5367565	c.3030_3031insT	p.L1011fs*3	Insertion - Frameshift	Large_intestine
COSM5752476	c.537_546del10	p.G180fs*49	Deletion - Frameshift	Breast
COSM5024116	c.3221G>A	p.R1074Q	Substitution - Missense	Bone
COSM51439	c.3386A>C	p.K1129T	Substitution - Missense	Ovary
COSM5967544	c.4468G>T	p.E1490*	Substitution - Nonsense	Skin
COSM907747	c.5856delC	p.K1953fs*3	Deletion - Frameshift	Endometrium
COSM375352	c.1335C>T	p.L445L	Substitution - coding silent	Lung
COSM5655927	c.5390delC	p.A1797fs*9	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1731930	c.3762_3763insG	p.M1256fs*3	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM426008	c.3715G>A	p.A1239T	Substitution - Missense	Breast
COSM1341426	c.5542delG	p.D1850fs*33	Deletion - Frameshift	Endometrium
COSM1580526	c.4879C>G	p.P1627A	Substitution - Missense	Endometrium
COSM51485	c.4386_4387insA	p.R1463fs*28	Insertion - Frameshift	Ovary
COSM51251	c.1650_1651insC	p.Y551fs*72	Insertion - Frameshift	Large_intestine
COSM4990555	c.3727G>A	p.D1243N	Substitution - Missense	Skin
COSM5346966	c.4903_4904insT	p.R1636fs*12	Insertion - Frameshift	Endometrium
COSM5574175	c.6305C>A	p.P2102H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5967147	c.356_365del10	p.E119fs*110	Deletion - Frameshift	Salivary_gland
COSM1666862	c.?	p.?	Unknown	Ovary
COSM1602153	c.5561_5562insT	p.I1855fs*46	Insertion - Frameshift	Liver
COSM5352285	c.?	p.H688P	Substitution - Missense	Endometrium
COSM85584	c.5947_5948delTG	p.S1985fs*13	Deletion - Frameshift	Pancreas
COSM907696	c.2197_2198insC	p.D734fs*83	Insertion - Frameshift	Endometrium
COSM907763	c.6755_6756delCT	p.L2253fs*24	Deletion - Frameshift	Endometrium
COSM3727110	c.2317C>T	p.P773S	Substitution - Missense	Skin
COSM4031007	c.3010A>G	p.T1004A	Substitution - Missense	Stomach
COSM5807717	c.6125G>A	p.S2042N	Substitution - Missense	Liver
COSM5347199	c.?_?ins?	p.A1517fs*?	Insertion - Frameshift	Endometrium
COSM5945930	c.1840T>G	p.S614A	Substitution - Missense	Meninges
COSM4765106	c.4761_4762insC	p.A1589fs*14	Insertion - Frameshift	Stomach
COSM5814924	c.6598G>T	p.E2200*	Substitution - Nonsense	Liver
COSM4031030	c.6816A>G	p.S2272S	Substitution - coding silent	Stomach
COSM4951085	c.1114_1115insG	p.Q372fs*28	Insertion - Frameshift	Liver
COSM1639814	c.2772delG	p.G925fs*16	Deletion - Frameshift	Stomach
COSM51474	c.1642C>T	p.Q548*	Substitution - Nonsense	Breast
COSM4031027	c.6762C>A	p.Y2254*	Substitution - Nonsense	Stomach
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Endometrium
COSM1341430	c.6415delC	p.F2141fs*59	Deletion - Frameshift	Stomach
COSM4933073	c.6203C>G	p.S2068W	Substitution - Missense	Liver
COSM5347191	c.?_?del?	p.E1904fs*?	Deletion - Frameshift	Endometrium
COSM243046	c.4948C>T	p.Q1650*	Substitution - Nonsense	Endometrium
COSM5576299	c.6601_6602insAC	p.S2202fs*30	Insertion - Frameshift	Stomach
COSM3724476	c.2657_2657delC	p.P886fs*5	Deletion - Frameshift	Large_intestine
COSM4765103	c.3277_3278insA	p.Q1095fs*10	Insertion - Frameshift	Liver
COSM51432	c.6472C>T	p.R2158*	Substitution - Nonsense	Endometrium
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Breast
COSM4422838	c.6263T>A	p.L2088H	Substitution - Missense	Kidney
COSM5607835	c.2087C>T	p.S696F	Substitution - Missense	Skin
COSM4949634	c.271_281>A	p.G91fs*7	Complex - frameshift	Liver
COSM51475	c.4582C>T	p.R1528*	Substitution - Nonsense	Pancreas
COSM5823120	c.3238C>A	p.L1080I	Substitution - Missense	Liver
COSM51424	c.1029_1043del15	p.A344_A348del	Deletion - In frame	Liver
COSM5347122	c.355G>T	p.E119*	Substitution - Nonsense	Endometrium
COSM5015853	c.4186delG	p.Q1397fs*84	Deletion - Frameshift	Kidney
COSM51438	c.3970_3971insA	p.Y1324fs*1	Insertion - Frameshift	Ovary
COSM3977549	c.6718G>A	p.A2240T	Substitution - Missense	Lung
COSM907726	c.4336C>T	p.R1446*	Substitution - Nonsense	Oesophagus
COSM3804820	c.4532G>A	p.R1511K	Substitution - Missense	Breast
COSM5347046	c.4150C>T	p.H1384Y	Substitution - Missense	Endometrium
COSM1626991	c.5762delC	p.L1922fs*1	Deletion - Frameshift	Liver
COSM3724475	c.1650_1650delC	p.Y551fs*68	Deletion - Frameshift	Large_intestine
COSM5347056	c.880A>C	p.T294P	Substitution - Missense	Endometrium
COSM5990635	c.2630C>T	p.P877L	Substitution - Missense	Liver
COSM51469	c.1107_1108insG	p.Q372fs*28	Insertion - Frameshift	Ovary
COSM132992	c.6259G>A	p.G2087R	Substitution - Missense	Liver
COSM907723	c.4003C>T	p.R1335*	Substitution - Nonsense	Endometrium
COSM1578109	c.6630G>C	p.Q2210H	Substitution - Missense	Urinary_tract
COSM1341426	c.5542delG	p.D1850fs*33	Deletion - Frameshift	Large_intestine
COSM1644335	c.5541_5542insG	p.D1850fs*4	Insertion - Frameshift	Lung
COSM51448	c.5305_5305delC	p.L1769fs*1	Deletion - Frameshift	Ovary
COSM51220	c.1455_1456insCCTAC	p.S486fs*135	Insertion - Frameshift	Ovary
COSM133001	c.5548_5548delG	p.D1850fs*33	Deletion - Frameshift	Large_intestine
COSM51418	c.5164C>T	p.R1722*	Substitution - Nonsense	Endometrium
COSM1602156	c.6299A>G	p.Q2100R	Substitution - Missense	Liver
COSM5346993	c.3318G>T	p.K1106N	Substitution - Missense	Endometrium
COSM5347212	c.?_?del?	p.S2249fs*?	Deletion - Frameshift	Endometrium
COSM1602137	c.997G>A	p.A333T	Substitution - Missense	Liver
COSM51453	c.1570C>T	p.Q524*	Substitution - Nonsense	Ovary
COSM1639820	c.4852delC	p.P1619fs*7	Deletion - Frameshift	Stomach
COSM5347193	c.?_?del?	p.I1954fs*?	Deletion - Frameshift	Endometrium
COSM4778418	c.3866+1G>T	p.?	Unknown	Liver
COSM1602148	c.3972delC	p.P1326fs*155	Deletion - Frameshift	Cervix
COSM251400	c.3424C>T	p.Q1142*	Substitution - Nonsense	Liver
COSM674181	c.5532G>A	p.W1844*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM680167	c.6311C>T	p.S2104F	Substitution - Missense	Lung
COSM907723	c.4003C>T	p.R1335*	Substitution - Nonsense	Large_intestine
COSM133011	c.827_827delG	p.G276fs*87	Deletion - Frameshift	Stomach
COSM51467	c.2107_2107delC	p.A704fs*38	Deletion - Frameshift	Ovary
COSM5347226	c.?_?ins?	p.A54fs*?	Insertion - Frameshift	Endometrium
COSM5346988	c.1717C>G	p.L573V	Substitution - Missense	Endometrium
COSM133018	c.2357_2358insG	p.S787fs*30	Insertion - Frameshift	Stomach
COSM3487575	c.1632C>T	p.H544H	Substitution - coding silent	Skin
COSM5347231	c.?_?ins?	p.C2163fs*?	Insertion - Frameshift	Endometrium
COSM5761403	c.2192_2193insC	p.Q732fs*85	Insertion - Frameshift	Pancreas
COSM1185373	c.6404T>A	p.I2135N	Substitution - Missense	Lung
COSM4031009	c.3377C>T	p.S1126F	Substitution - Missense	Stomach
COSM133004	c.5548_5549insG	p.D1850fs*4	Insertion - Frameshift	Large_intestine
COSM5347128	c.1290C>A	p.Y430*	Substitution - Nonsense	Endometrium
COSM1659161	c.6423_6430delCAGCCGCC	p.S2142fs*5	Deletion - Frameshift	Kidney
COSM1245447	c.1207C>T	p.Q403*	Substitution - Nonsense	Urinary_tract
COSM5413340	c.1820C>T	p.S607L	Substitution - Missense	Skin
COSM133008	c.5841_5842insAGCACAG	p.H1949fs*16	Insertion - Frameshift	Large_intestine
COSM5346995	c.3973C>T	p.P1325S	Substitution - Missense	Endometrium
COSM5346997	c.2732G>T	p.R911M	Substitution - Missense	Central_nervous_system
COSM5815974	c.5443A>T	p.K1815*	Substitution - Nonsense	Liver
COSM218429	c.6226_6227insC	p.Y2076fs*23	Insertion - Frameshift	Pancreas
COSM5946518	c.6718delG	p.A2240fs*27	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM328012	c.6109C>T	p.Q2037*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1639817	c.3773A>G	p.D1258G	Substitution - Missense	Stomach
COSM1602144	c.3299T>G	p.L1100R	Substitution - Missense	Liver
COSM3733018	c.6292_6293insG	p.E2098fs*52	Insertion - Frameshift	Stomach
COSM5023716	c.4109A>G	p.K1370R	Substitution - Missense	Bone
COSM5825578	c.4757C>T	p.S1586F	Substitution - Missense	Pancreas
COSM3487589	c.5863C>T	p.L1955L	Substitution - coding silent	Skin
COSM4949879	c.2740delG	p.G914fs*5	Deletion - Frameshift	Liver
COSM907727	c.4417C>T	p.Q1473*	Substitution - Nonsense	Endometrium
COSM1666862	c.?	p.?	Unknown	Endometrium
COSM5607844	c.1358C>T	p.P453L	Substitution - Missense	Skin
COSM3732828	c.125_126insAGC	p.A45_E46insA	Insertion - In frame	Stomach
COSM133007	c.5844_5845insACAGAGC	p.H1949fs*16	Insertion - Frameshift	Large_intestine
COSM4949788	c.5131delG	p.L1712fs*2	Deletion - Frameshift	Liver
COSM5346911	c.2191_2194delGGCC	p.G731fs*10	Deletion - Frameshift	Endometrium
COSM5347233	c.?_?del?	p.C884fs*?	Deletion - Frameshift	Endometrium
COSM2235517	c.4231C>T	p.Q1411*	Substitution - Nonsense	Salivary_gland
COSM1639815	c.3148G>A	p.D1050N	Substitution - Missense	Stomach
COSM3487576	c.2094C>T	p.S698S	Substitution - coding silent	Skin
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Endometrium
COSM133024	c.1945_1946insT	p.M651fs*25	Insertion - Frameshift	Pancreas
COSM251352	c.315_334del20	p.N106fs*4	Deletion - Frameshift	Liver
COSM5800269	c.3060G>T	p.R1020S	Substitution - Missense	Breast
COSM51466	c.1398_1398delC	p.Q467fs*152	Deletion - Frameshift	Ovary
COSM907723	c.4003C>T	p.R1335*	Substitution - Nonsense	Breast
COSM211770	c.6446_6447insA	p.S2149fs*9	Insertion - Frameshift	Endometrium
COSM680178	c.1583A>T	p.Q528L	Substitution - Missense	Lung
COSM132996	c.1323_1323delC	p.M442fs*177	Deletion - Frameshift	Breast
COSM1235375	c.3134_3134delG	p.G1045fs*14	Deletion - Frameshift	Breast
COSM4746831	c.5589_5590delAG	p.E1864fs*36	Deletion - Frameshift	Stomach
COSM1238047	c.?	p.Q1334_R1335insQ	Insertion - In frame	Ovary
COSM87889	c.1015delG	p.A339fs*24	Deletion - Frameshift	Liver
COSM3771708	c.687C>A	p.Y229*	Substitution - Nonsense	Pancreas
COSM1185374	c.6685G>T	p.D2229Y	Substitution - Missense	Lung
COSM51223	c.4635G>A	p.W1545*	Substitution - Nonsense	Ovary
COSM4949635	c.31_56del26	p.S11fs*91	Deletion - Frameshift	Salivary_gland
COSM251357	c.6774_6792del19	p.L2259fs*2	Deletion - Frameshift	Liver
COSM4031017	c.4381C>T	p.R1461*	Substitution - Nonsense	Pancreas
COSM51241	c.883_884insC	p.L295fs*105	Insertion - Frameshift	Ovary
COSM1245448	c.4909C>A	p.R1637R	Substitution - coding silent	Stomach
COSM254546	c.3743C>A	p.S1248*	Substitution - Nonsense	Urinary_tract
COSM5347204	c.?_?del?	p.T2138fs*?	Deletion - Frameshift	Endometrium
COSM5506597	c.2718_2719delCT	p.S907fs*28	Deletion - Frameshift	Biliary_tract
COSM140917	c.2786C>T	p.P929L	Substitution - Missense	Skin
COSM907699	c.2252-1G>T	p.?	Unknown	Endometrium
COSM4031014	c.4024C>T	p.Q1342*	Substitution - Nonsense	Stomach
COSM5346990	c.3220C>T	p.R1074W	Substitution - Missense	Endometrium
COSM332817	c.1435C>T	p.Q479*	Substitution - Nonsense	Endometrium
COSM5552057	c.966C>G	p.D322E	Substitution - Missense	Prostate
COSM2235541	c.5497C>T	p.R1833C	Substitution - Missense	Stomach
COSM4663230	c.4833_4834insA	p.M1613fs*35	Insertion - Frameshift	Large_intestine
COSM51414	c.6018_6020delGCT	p.L2007del	Deletion - In frame	Ovary
COSM5347197	c.?_?del?	p.P2095fs*?	Deletion - Frameshift	Endometrium
COSM1185372	c.2318C>T	p.P773L	Substitution - Missense	Soft_tissue
COSM1183545	c.6236G>T	p.S2079I	Substitution - Missense	Large_intestine
COSM21759	c.2064C>T	p.H688H	Substitution - coding silent	Skin
COSM133014	c.4972C>T	p.R1658W	Substitution - Missense	Endometrium
COSM299663	c.6469G>A	p.D2157N	Substitution - Missense	Large_intestine
COSM350031	c.5987G>A	p.G1996D	Substitution - Missense	Lung
COSM1602136	c.974delC	p.G326fs*37	Deletion - Frameshift	Liver
COSM132997	c.1014_1014delG	p.A339fs*24	Deletion - Frameshift	Large_intestine
COSM51436	c.5503C>T	p.Q1835*	Substitution - Nonsense	Stomach
COSM211772	c.2368C>T	p.Q790*	Substitution - Nonsense	Kidney
COSM5574169	c.1852A>G	p.M618V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4949624	c.622C>T	p.P208S	Substitution - Missense	Liver
COSM5032944	c.6413C>A	p.T2138K	Substitution - Missense	Oesophagus
COSM1602148	c.3972delC	p.P1326fs*155	Deletion - Frameshift	Large_intestine
COSM5514597	c.1984_1991delAGCACATC	p.S662fs*11	Deletion - Frameshift	Biliary_tract
COSM4938697	c.3080A>G	p.Y1027C	Substitution - Missense	Liver
COSM1341430	c.6415delC	p.F2141fs*59	Deletion - Frameshift	Stomach
COSM2235464	c.2652T>A	p.C884*	Substitution - Nonsense	Endometrium
COSM5368911	c.6143G>A	p.W2048*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM254547	c.4750C>T	p.Q1584*	Substitution - Nonsense	Soft_tissue
COSM5967143	c.3565_3584del20	p.D1189fs*1	Deletion - Frameshift	Salivary_gland
COSM907700	c.2275A>G	p.M759V	Substitution - Missense	Endometrium
COSM1602147	c.3910G>T	p.A1304S	Substitution - Missense	Liver
COSM1659160	c.2402delG	p.G801fs*32	Deletion - Frameshift	Large_intestine
COSM5347084	c.3740C>T	p.S1247F	Substitution - Missense	Endometrium
COSM5347229	c.?_?del?	p.F1103fs*?	Deletion - Frameshift	Endometrium
COSM5025217	c.3162_3163insT	p.Y1055fs*50	Insertion - Frameshift	Breast
COSM907720	c.3972C>A	p.Y1324*	Substitution - Nonsense	Lung
COSM5500588	c.3540-18_3552del31	p.?	Unknown	Biliary_tract
COSM907719	c.3959C>A	p.S1320Y	Substitution - Missense	Endometrium
COSM907762	c.6716T>C	p.L2239P	Substitution - Missense	Lung
COSM328013	c.1652_1652delA	p.Y551fs*68	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM680180	c.1292C>A	p.P431Q	Substitution - Missense	Lung
COSM1745551	c.3079_3080insATCTGGC	p.F1030fs*5	Insertion - Frameshift	Urinary_tract
COSM5821086	c.6746C>A	p.S2249*	Substitution - Nonsense	Liver
COSM243046	c.4948C>T	p.Q1650*	Substitution - Nonsense	Prostate
COSM133002	c.4354_4354delC	p.Q1452fs*29	Deletion - Frameshift	Large_intestine
COSM4949789	c.1228G>A	p.G410R	Substitution - Missense	Liver
COSM130413	c.2830C>T	p.Q944*	Substitution - Nonsense	Biliary_tract
COSM347956	c.1501C>T	p.Q501*	Substitution - Nonsense	Lung
COSM4765107	c.5542_5543insG	p.D1850fs*4	Insertion - Frameshift	Biliary_tract
COSM5990633	c.2182C>T	p.P728S	Substitution - Missense	Liver
COSM4988534	c.358C>T	p.P120S	Substitution - Missense	Soft_tissue
COSM1341387	c.607_608insA	p.H203fs*197	Insertion - Frameshift	Large_intestine
COSM5645084	c.3464C>A	p.A1155E	Substitution - Missense	Oesophagus
COSM5347074	c.6785C>T	p.S2262L	Substitution - Missense	Endometrium
COSM3727925	c.4709C>G	p.S1570C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1602154	c.5683G>T	p.E1895*	Substitution - Nonsense	Liver
COSM51245	c.608_609insA	p.H203fs*197	Insertion - Frameshift	Ovary
COSM97864	c.1876G>T	p.E626*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM184236	c.2077C>T	p.R693*	Substitution - Nonsense	Endometrium
COSM4663224	c.3334G>C	p.D1112H	Substitution - Missense	Large_intestine
COSM4882033	c.947A>T	p.Y316F	Substitution - Missense	Upper_aerodigestive_tract
COSM4143739	c.4693A>C	p.T1565P	Substitution - Missense	Thyroid
COSM117245	c.2567G>T	p.G856V	Substitution - Missense	Ovary
COSM5349513	c.?_?ins?	p.I1635fs*?	Insertion - Frameshift	Endometrium
COSM51441	c.5161C>T	p.R1721*	Substitution - Nonsense	Endometrium
COSM1133054	c.5216_5216delC	p.P1739fs*31	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1296221	c.1765C>T	p.Q589*	Substitution - Nonsense	Urinary_tract
COSM2235520	c.4541delC	p.T1514fs*13	Deletion - Frameshift	Breast
COSM5470084	c.3869C>T	p.T1290M	Substitution - Missense	Large_intestine
COSM5731230	c.3771T>G	p.G1257G	Substitution - coding silent	Central_nervous_system
COSM5347199	c.?_?ins?	p.A1517fs*?	Insertion - Frameshift	Endometrium
COSM254548	c.1850C>G	p.S617*	Substitution - Nonsense	Urinary_tract
COSM4903627	c.1147C>T	p.P383S	Substitution - Missense	Skin
COSM254551	c.1897C>T	p.Q633*	Substitution - Nonsense	Endometrium
COSM1639823	c.6303delC	p.S2104fs*31	Deletion - Frameshift	Stomach
COSM4031024	c.6074A>C	p.K2025T	Substitution - Missense	Stomach
COSM5352281	c.?	p.V1982I	Substitution - Missense	Endometrium
COSM907739	c.5365delG	p.A1789fs*17	Deletion - Frameshift	Endometrium
COSM3377104	c.1520A>G	p.Q507R	Substitution - Missense	Pancreas
COSM4031003	c.2017C>T	p.Q673*	Substitution - Nonsense	Stomach
COSM5347228	c.?_?del?	p.N1070fs*?	Deletion - Frameshift	Endometrium
COSM907733	c.4917delC	p.T1640fs*14	Deletion - Frameshift	Endometrium
COSM5885083	c.?	p.S499fs*?	Frameshift	Soft_tissue
COSM5347218	c.?_?del?	p.P726fs*?	Deletion - Frameshift	Endometrium
COSM307320	c.3137G>A	p.R1046K	Substitution - Missense	Liver
COSM217037	c.3843T>G	p.Y1281*	Substitution - Nonsense	Liver
COSM3671705	c.1793C>A	p.P598H	Substitution - Missense	Prostate
COSM254542	c.5338G>T	p.E1780*	Substitution - Nonsense	Urinary_tract
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Endometrium
COSM4169392	c.?	p.P1569L	Substitution - Missense	Skin
COSM251421	c.6260G>A	p.G2087E	Substitution - Missense	Liver
COSM51468	c.149_150insG	p.K51fs*60	Insertion - Frameshift	Ovary
COSM5347221	c.?_?del?	p.Q492fs*?	Deletion - Frameshift	Endometrium
COSM51432	c.6472C>T	p.R2158*	Substitution - Nonsense	Endometrium
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Endometrium
COSM4751603	c.4277A>T	p.D1426V	Substitution - Missense	Stomach
COSM5490618	c.2387A>G	p.Y796C	Substitution - Missense	Biliary_tract
COSM51443	c.286_296del11	p.A96fs*11	Deletion - Frameshift	Ovary
COSM307321	c.1896_1899delTCAG	p.S634fs*12	Deletion - Frameshift	Liver
COSM907698	c.2248C>T	p.R750*	Substitution - Nonsense	Stomach
COSM1341426	c.5542delG	p.D1850fs*33	Deletion - Frameshift	Large_intestine
COSM184236	c.2077C>T	p.R693*	Substitution - Nonsense	Ovary
COSM251352	c.315_334del20	p.N106fs*4	Deletion - Frameshift	Liver
COSM1687261	c.1852A>C	p.M618L	Substitution - Missense	Skin
COSM4143737	c.1987A>T	p.T663S	Substitution - Missense	Thyroid
COSM13835	c.2834delG	p.G945fs*23	Deletion - Frameshift	Lung
COSM3487577	c.2128C>T	p.R710C	Substitution - Missense	Skin
COSM4170636	c.4834_4835delAA	p.K1612fs*35	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM133001	c.5548_5548delG	p.D1850fs*33	Deletion - Frameshift	Large_intestine
COSM251387	c.3818_3843>G	p.M1273fs	Complex	Liver
COSM2235571	c.6343C>T	p.Q2115*	Substitution - Nonsense	Endometrium
COSM5380520	c.4906C>T	p.R1636W	Substitution - Missense	Skin
COSM4219284	c.?	p.V1427fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM51421	c.5953T>C	p.S1985P	Substitution - Missense	Ovary
COSM4809210	c.647A>C	p.Y216S	Substitution - Missense	Pancreas
COSM130413	c.2830C>T	p.Q944*	Substitution - Nonsense	Breast
COSM254544	c.5221C>T	p.Q1741*	Substitution - Nonsense	Stomach
COSM2235506	c.3831G>A	p.Q1277Q	Substitution - coding silent	Large_intestine
COSM4827172	c.1831C>T	p.Q611*	Substitution - Nonsense	Cervix
COSM4169300	c.?	p.A88fs*23	Unknown	Biliary_tract
COSM5881447	c.?	p.R1950Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM907723	c.4003C>T	p.R1335*	Substitution - Nonsense	Endometrium
COSM133026	c.6287C>G	p.S2096*	Substitution - Nonsense	Pancreas
COSM957517	c.?	p.Q1415fs*?	Unknown	Ovary
COSM4031013	c.3793G>A	p.G1265S	Substitution - Missense	Stomach
COSM51476	c.3519_3519delC	p.P1175fs*5	Deletion - Frameshift	Ovary
COSM907757	c.6703_6704insC	p.R2236fs*42	Insertion - Frameshift	Endometrium
COSM4941151	c.4424A>C	p.N1475T	Substitution - Missense	Liver
COSM4990557	c.4802C>T	p.P1601L	Substitution - Missense	Skin
COSM217038	c.6251T>A	p.V2084D	Substitution - Missense	Liver
COSM1666862	c.?	p.?	Unknown	Endometrium
COSM4652336	c.3816G>A	p.A1272A	Substitution - coding silent	Large_intestine
COSM1245447	c.1207C>T	p.Q403*	Substitution - Nonsense	Urinary_tract
COSM133021	c.6403_6408delATTCTG	p.I2135_L2136del	Deletion - In frame	Lung
COSM4031017	c.4381C>T	p.R1461*	Substitution - Nonsense	Endometrium
COSM249342	c.6277G>T	p.V2093F	Substitution - Missense	Kidney
COSM1341419	c.5069C>A	p.T1690N	Substitution - Missense	Large_intestine
COSM5413339	c.1633C>A	p.P545T	Substitution - Missense	Skin
COSM5611223	c.2740_2741GG>AA	p.G914N	Substitution - Missense	Skin
COSM51863	c.3059G>A	p.R1020K	Substitution - Missense	Kidney
COSM251388	c.5770G>AA	p.E1924fs	Complex	Liver
COSM1602148	c.3972delC	p.P1326fs*155	Deletion - Frameshift	Endometrium
COSM5587210	c.3214A>T	p.K1072*	Substitution - Nonsense	Skin
COSM51446	c.1177C>T	p.Q393*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM298325	c.3978_3980delGCA	p.Q1334delQ	Deletion - In frame	Breast
COSM298325	c.3978_3980delGCA	p.Q1334delQ	Deletion - In frame	Upper_aerodigestive_tract
COSM1341407	c.3340delC	p.P1115fs*46	Deletion - Frameshift	Large_intestine
COSM5346908	c.6830delA	p.D2277fs*5	Deletion - Frameshift	Endometrium
COSM5760786	c.4564G>T	p.A1522S	Substitution - Missense	Pancreas
COSM1639811	c.1060C>T	p.Q354*	Substitution - Nonsense	Stomach
COSM1341433	c.6529G>A	p.G2177R	Substitution - Missense	Large_intestine
COSM680177	c.2879-1G>C	p.?	Unknown	Lung
COSM907710	c.3399C>A	p.P1133P	Substitution - coding silent	Endometrium
COSM5413342	c.4774C>T	p.P1592S	Substitution - Missense	Skin
COSM5347123	c.5919G>A	p.W1973*	Substitution - Nonsense	Endometrium
COSM357693	c.5176G>T	p.E1726*	Substitution - Nonsense	Lung
COSM907726	c.4336C>T	p.R1446*	Substitution - Nonsense	Stomach
COSM1133047	c.1753C>T	p.Q585*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1741911	c.5884_5885insTA	p.K1962fs*54	Insertion - Frameshift	Urinary_tract
COSM5607841	c.2682C>T	p.T894T	Substitution - coding silent	Skin
COSM3789828	c.4868C>T	p.S1623L	Substitution - Missense	Urinary_tract
COSM1644335	c.5541_5542insG	p.D1850fs*4	Insertion - Frameshift	Large_intestine
COSM5347219	c.?_?del?	p.R727fs*?	Deletion - Frameshift	Endometrium
COSM51447	c.1366C>T	p.Q456*	Substitution - Nonsense	Ovary
COSM680168	c.6210G>T	p.Q2070H	Substitution - Missense	Lung
COSM907731	c.4880_4893delCTGCCCCTGTGCAG	p.A1628fs*15	Deletion - Frameshift	Endometrium
COSM4663226	c.4250delA	p.A1418fs*63	Deletion - Frameshift	Large_intestine
COSM1341404	c.2332G>A	p.G778R	Substitution - Missense	Large_intestine
COSM1578346	c.3989_3991delAGC	p.Q1334delQ	Deletion - In frame	Lung
COSM680174	c.3145C>G	p.L1049V	Substitution - Missense	Lung
COSM1639823	c.6303delC	p.S2104fs*31	Deletion - Frameshift	Stomach
COSM5596289	c.4852C>T	p.P1618S	Substitution - Missense	Skin
COSM1183547	c.3827G>A	p.R1276Q	Substitution - Missense	Large_intestine
COSM1578110	c.6156C>A	p.C2052*	Substitution - Nonsense	Urinary_tract
COSM5020791	c.5717G>A	p.R1906Q	Substitution - Missense	Soft_tissue
COSM254542	c.5338G>T	p.E1780*	Substitution - Nonsense	Urinary_tract
COSM51436	c.5503C>T	p.Q1835*	Substitution - Nonsense	Ovary
COSM4949620	c.5431_5441del11	p.L1812fs*6	Deletion - Frameshift	Liver
COSM5347098	c.2581G>A	p.A861T	Substitution - Missense	Endometrium
COSM5725719	c.3470G>A	p.G1157E	Substitution - Missense	Skin
COSM5346910	c.2186_2189delCCAG	p.P729fs*12	Deletion - Frameshift	Endometrium
COSM51250	c.289G>T	p.E97*	Substitution - Nonsense	Ovary
COSM217035	c.1169_1170insT	p.M390fs*10	Insertion - Frameshift	Liver
COSM4577169	c.4606G>A	p.D1536N	Substitution - Missense	Bone
COSM251354	c.6545_6564del20	p.A2182fs*36	Deletion - Frameshift	Liver
COSM1296220	c.1696C>T	p.Q566*	Substitution - Nonsense	Ovary
COSM133022	c.4893_4894insC	p.M1634fs*14	Insertion - Frameshift	Large_intestine
COSM1242007	c.3211delA	p.K1072fs*21	Deletion - Frameshift	Large_intestine
COSM51888	c.6266T>C	p.L2089P	Substitution - Missense	Kidney
COSM907736	c.5197G>T	p.E1733*	Substitution - Nonsense	Endometrium
COSM5232762	c.1844delC	p.S617fs*2	Deletion - Frameshift	Breast
COSM4949944	c.1653C>G	p.Y551*	Substitution - Nonsense	Liver
COSM51418	c.5164C>T	p.R1722*	Substitution - Nonsense	Ovary
COSM51418	c.5164C>T	p.R1722*	Substitution - Nonsense	Biliary_tract
COSM4031002	c.1803+2T>C	p.?	Unknown	Stomach
COSM4663223	c.3210_3211insA	p.W1073fs*32	Insertion - Frameshift	Pancreas
COSM4835395	c.3551C>T	p.S1184L	Substitution - Missense	Cervix
COSM254548	c.1850C>G	p.S617*	Substitution - Nonsense	Urinary_tract
COSM4995437	c.4717C>T	p.Q1573*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM907704	c.2979_2980insA	p.S995fs*12	Insertion - Frameshift	Endometrium
COSM5347208	c.?_?del?	p.Q909fs*?	Deletion - Frameshift	Endometrium
COSM1341426	c.5542delG	p.D1850fs*33	Deletion - Frameshift	Large_intestine
COSM3789827	c.3082C>T	p.L1028L	Substitution - coding silent	Urinary_tract
COSM1283496	c.3416G>T	p.G1139V	Substitution - Missense	Autonomic_ganglia
COSM218428	c.6076C>T	p.Q2026*	Substitution - Nonsense	Pancreas
COSM51432	c.6472C>T	p.R2158*	Substitution - Nonsense	Endometrium
COSM907741	c.5431delA	p.K1811fs*4	Deletion - Frameshift	Endometrium
COSM1341431	c.6472C>A	p.R2158R	Substitution - coding silent	Skin
COSM3984934	c.1483C>T	p.H495Y	Substitution - Missense	Kidney
COSM133010	c.879_880insC	p.T294fs*106	Insertion - Frameshift	Stomach
COSM5574174	c.4344_4345insT	p.G1449fs*42	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1296224	c.3598C>T	p.Q1200*	Substitution - Nonsense	Pancreas
COSM1341426	c.5542delG	p.D1850fs*33	Deletion - Frameshift	Endometrium
COSM1667286	c.1683G>C	p.Q561H	Substitution - Missense	Large_intestine
COSM1602140	c.1351-2A>G	p.?	Unknown	Liver
COSM1578108	c.5212G>A	p.D1738N	Substitution - Missense	Urinary_tract
COSM3774458	c.355G>A	p.E119K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM254541	c.3634C>T	p.Q1212*	Substitution - Nonsense	Urinary_tract
COSM51225	c.486_492delCGCCGCC	p.A163fs*67	Deletion - Frameshift	Ovary
COSM907694	c.2021delG	p.S674fs*68	Deletion - Frameshift	Endometrium
COSM907711	c.3430C>T	p.P1144S	Substitution - Missense	Endometrium
COSM5574173	c.5636G>A	p.R1879Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM140917	c.2786C>T	p.P929L	Substitution - Missense	Upper_aerodigestive_tract
COSM133001	c.5548_5548delG	p.D1850fs*33	Deletion - Frameshift	Stomach
COSM51483	c.4624G>T	p.E1542*	Substitution - Nonsense	Central_nervous_system
COSM4031020	c.5125-1G>A	p.?	Unknown	Stomach
COSM5380522	c.5730T>A	p.T1910T	Substitution - coding silent	Skin
COSM13835	c.2834delG	p.G945fs*23	Deletion - Frameshift	Lung
COSM159172	c.4910G>A	p.R1637Q	Substitution - Missense	Large_intestine
COSM907720	c.3972C>A	p.Y1324*	Substitution - Nonsense	Endometrium
COSM51214	c.553C>T	p.Q185*	Substitution - Nonsense	Ovary
COSM1283497	c.5825G>A	p.G1942D	Substitution - Missense	Autonomic_ganglia
COSM133022	c.4893_4894insC	p.M1634fs*14	Insertion - Frameshift	Endometrium
COSM3984939	c.6593T>C	p.F2198S	Substitution - Missense	Kidney
COSM5605549	c.6146G>A	p.W2049*	Substitution - Nonsense	Skin
COSM254540	c.6806C>T	p.S2269L	Substitution - Missense	Urinary_tract
COSM907750	c.6144G>A	p.W2048*	Substitution - Nonsense	Endometrium
COSM1626993	c.6735delC	p.D2245fs*22	Deletion - Frameshift	Liver
COSM3487586	c.4366C>T	p.P1456S	Substitution - Missense	Skin
COSM4031025	c.6310T>C	p.S2104P	Substitution - Missense	Stomach
COSM4431049	c.5316A>T	p.K1772N	Substitution - Missense	Oesophagus
COSM388831	c.2866A>T	p.N956Y	Substitution - Missense	Lung
COSM1283496	c.3416G>T	p.G1139V	Substitution - Missense	Autonomic_ganglia
COSM1602158	c.6700_6702delGCT	p.A2235delA	Deletion - In frame	Liver
COSM1639808	c.822delG	p.G276fs*87	Deletion - Frameshift	Stomach
COSM3377105	c.2296C>T	p.Q766*	Substitution - Nonsense	Liver
COSM5346958	c.192_193insC	p.P66fs*45	Insertion - Frameshift	Endometrium
COSM5630657	c.5381delA	p.D1794fs*12	Deletion - Frameshift	Oesophagus
COSM5380513	c.2656C>T	p.P886S	Substitution - Missense	Skin
COSM907744	c.5650A>T	p.T1884S	Substitution - Missense	Endometrium
COSM5352282	c.?	p.R1989*	Substitution - Nonsense	Endometrium
COSM1602154	c.5683G>T	p.E1895*	Substitution - Nonsense	Lung
COSM144171	c.4270C>T	p.Q1424*	Substitution - Nonsense	Urinary_tract
COSM1639813	c.2268delC	p.Q758fs*75	Deletion - Frameshift	Stomach
COSM3734740	c.?	p.Q1473*	Substitution - Nonsense	Urinary_tract
COSM133004	c.5548_5549insG	p.D1850fs*4	Insertion - Frameshift	Stomach
COSM254547	c.4750C>T	p.Q1584*	Substitution - Nonsense	Pancreas
COSM907753	c.6403A>G	p.I2135V	Substitution - Missense	Endometrium
COSM254551	c.1897C>T	p.Q633*	Substitution - Nonsense	Urinary_tract
COSM170579	c.2167C>T	p.Q723*	Substitution - Nonsense	Skin
COSM4878978	c.4652G>A	p.R1551H	Substitution - Missense	Prostate
COSM51415	c.404_404delC	p.P135fs*97	Deletion - Frameshift	Ovary
COSM1320237	c.5296G>T	p.E1766*	Substitution - Nonsense	Ovary
COSM4663214	c.46_48delCCG	p.P21delP	Deletion - In frame	Large_intestine
COSM51218	c.4001_4002insGCA	p.Q1334_R1335insQ	Insertion - In frame	Ovary
COSM1666862	c.?	p.?	Unknown	Endometrium
COSM254541	c.3634C>T	p.Q1212*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM234202	c.3391C>T	p.Q1131*	Substitution - Nonsense	Skin
COSM3386055	c.1258C>T	p.Q420*	Substitution - Nonsense	Pancreas
COSM2235488	c.3277delA	p.K1094fs*67	Deletion - Frameshift	Large_intestine
COSM4663234	c.6763G>A	p.E2255K	Substitution - Missense	Large_intestine
COSM133023	c.5012_5012delG	p.V1672fs*1	Deletion - Frameshift	Central_nervous_system
COSM251380	c.3281_3282insA	p.Q1095fs*10	Insertion - Frameshift	Liver
COSM907707	c.3219G>A	p.W1073*	Substitution - Nonsense	Endometrium
COSM5347086	c.5213A>G	p.D1738G	Substitution - Missense	Endometrium
COSM5347220	c.?_?ins?	p.Q2188fs*?	Insertion - Frameshift	Endometrium
COSM4949888	c.128_129insGGC	p.A45_E46insA	Insertion - In frame	Liver
COSM5347137	c.3068G>A	p.W1023*	Substitution - Nonsense	Endometrium
COSM1341428	c.6043A>T	p.I2015F	Substitution - Missense	Large_intestine
COSM251401	c.1210C>T	p.Q404*	Substitution - Nonsense	Stomach
COSM5878551	c.1_6858del6858	p.0?	Whole gene deletion	Liver
COSM5990632	c.392G>A	p.G131E	Substitution - Missense	Liver
COSM5596289	c.4852C>T	p.P1618S	Substitution - Missense	Skin
COSM3724478	c.6586C>T	p.L2196L	Substitution - coding silent	Large_intestine
COSM51432	c.6472C>T	p.R2158*	Substitution - Nonsense	Ovary
COSM1242007	c.3211delA	p.K1072fs*21	Deletion - Frameshift	Breast
COSM1238047	c.?	p.Q1334_R1335insQ	Insertion - In frame	Skin
COSM255179	c.3216_3216delA	p.K1072fs*21	Deletion - Frameshift	Stomach
COSM5752706	c.1543C>T	p.Q515*	Substitution - Nonsense	Breast
COSM1159737	c.4945_4946insA	p.T1649fs*49	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3386056	c.1568C>A	p.S523Y	Substitution - Missense	Pancreas
COSM4765104	c.3373_3374insA	p.S1126fs*67	Insertion - Frameshift	Stomach
COSM4765109	c.6747_6748insA	p.E2250fs*28	Insertion - Frameshift	Stomach
COSM51418	c.5164C>T	p.R1722*	Substitution - Nonsense	Small_intestine
COSM251401	c.1210C>T	p.Q404*	Substitution - Nonsense	Liver
COSM907723	c.4003C>T	p.R1335*	Substitution - Nonsense	Large_intestine
COSM1296218	c.1156C>T	p.Q386*	Substitution - Nonsense	Urinary_tract
COSM1742794	c.1627C>A	p.Q543K	Substitution - Missense	Biliary_tract
COSM4965578	c.1963G>T	p.G655*	Substitution - Nonsense	Pancreas
COSM3356563	c.4072C>T	p.Q1358*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM214494	c.4017_4018delTG	p.Y1339fs*1	Deletion - Frameshift	Breast
COSM5347002	c.4210C>T	p.Q1404*	Substitution - Nonsense	Endometrium
COSM51418	c.5164C>T	p.R1722*	Substitution - Nonsense	Endometrium
COSM298325	c.3978_3980delGCA	p.Q1334delQ	Deletion - In frame	Breast
COSM1602156	c.6299A>G	p.Q2100R	Substitution - Missense	Liver
COSM1341430	c.6415delC	p.F2141fs*59	Deletion - Frameshift	Stomach
COSM1687260	c.1262C>T	p.P421L	Substitution - Missense	Skin
COSM4949870	c.1070_1071GC>T	p.S357fs*6	Complex - frameshift	Liver
COSM5754422	c.3540C>G	p.S1180R	Substitution - Missense	Large_intestine
COSM907687	c.1512delA	p.Q505fs*114	Deletion - Frameshift	Endometrium
COSM5948372	c.645C>G	p.Y215*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM51246	c.1626_1627delGC	p.Q543fs*79	Deletion - Frameshift	Ovary
COSM5923491	c.4472T>C	p.V1491A	Substitution - Missense	Skin
COSM5985658	c.?	p.Q605*	Substitution - Nonsense	Lung
COSM1296222	c.1901C>G	p.S634*	Substitution - Nonsense	Urinary_tract
COSM4751604	c.6526C>T	p.Q2176*	Substitution - Nonsense	Endometrium
COSM4995436	c.2864C>T	p.A955V	Substitution - Missense	Upper_aerodigestive_tract
COSM3358385	c.5180_5181delTC	p.F1728fs*7	Deletion - Frameshift	Kidney
COSM5024116	c.3221G>A	p.R1074Q	Substitution - Missense	Bone
COSM5346926	c.1589delC	p.P531fs*88	Deletion - Frameshift	Endometrium
COSM907698	c.2248C>T	p.R750*	Substitution - Nonsense	Large_intestine
COSM255049	c.5216_5249del34	p.G1740fs*19	Deletion - Frameshift	Urinary_tract
COSM5347192	c.?_?del?	p.L2134fs*?	Deletion - Frameshift	Endometrium
COSM1341426	c.5542delG	p.D1850fs*33	Deletion - Frameshift	Stomach
COSM5352302	c.?	p.G2087R	Substitution - Missense	Endometrium
COSM3487580	c.2605G>A	p.G869S	Substitution - Missense	Liver
COSM307320	c.3137G>A	p.R1046K	Substitution - Missense	Liver
COSM5662110	c.105G>T	p.A35A	Substitution - coding silent	Soft_tissue
COSM5347200	c.?_?del?	p.A1517fs*?	Deletion - Frameshift	Endometrium
COSM5347213	c.?_?del?	p.H1960fs*?	Deletion - Frameshift	Endometrium
COSM251355	c.6572_6580delGTATCGGCA	p.S2191_G2193delSIG	Deletion - In frame	Liver
COSM4767415	c.1345C>T	p.Q449*	Substitution - Nonsense	Biliary_tract
COSM4663229	c.4399delC	p.P1468fs*13	Deletion - Frameshift	Large_intestine
COSM2235502	c.3744A>C	p.S1248S	Substitution - coding silent	Large_intestine
COSM51440	c.1441C>T	p.Q481*	Substitution - Nonsense	Ovary
COSM907736	c.5197G>T	p.E1733*	Substitution - Nonsense	Large_intestine
COSM83884	c.3826C>T	p.R1276*	Substitution - Nonsense	Pancreas
COSM255180	c.2165_2171delACCAGAT	p.N722fs*18	Deletion - Frameshift	Ovary
COSM680166	c.6572G>T	p.S2191I	Substitution - Missense	Lung
COSM4751604	c.6526C>T	p.Q2176*	Substitution - Nonsense	Stomach
COSM5347130	c.5169C>A	p.C1723*	Substitution - Nonsense	Endometrium
COSM5380511	c.2375C>T	p.S792F	Substitution - Missense	Skin
COSM96944	c.?	p.Q546*	Substitution - Nonsense	Pancreas
COSM4772223	c.6346A>T	p.R2116*	Substitution - Nonsense	Stomach
COSM414503	c.5777G>C	p.G1926A	Substitution - Missense	Urinary_tract
COSM1341426	c.5542delG	p.D1850fs*33	Deletion - Frameshift	Large_intestine
COSM254541	c.3634C>T	p.Q1212*	Substitution - Nonsense	Urinary_tract
COSM254544	c.5221C>T	p.Q1741*	Substitution - Nonsense	Urinary_tract
COSM1236667	c.648C>A	p.Y216*	Substitution - Nonsense	Autonomic_ganglia
COSM4949633	c.732_744del13	p.A245fs*114	Deletion - Frameshift	Liver
COSM307321	c.1896_1899delTCAG	p.S634fs*12	Deletion - Frameshift	Liver
COSM4169293	c.?	p.Y1719*	Substitution - Nonsense	Biliary_tract
COSM2235551	c.5819C>T	p.P1940L	Substitution - Missense	Skin
COSM51424	c.1029_1043del15	p.A344_A348del	Deletion - In frame	Ovary
COSM254549	c.5009G>A	p.W1670*	Substitution - Nonsense	Urinary_tract
COSM1659057	c.4069C>T	p.Q1357*	Substitution - Nonsense	Salivary_gland
COSM4950376	c.5669G>T	p.G1890V	Substitution - Missense	Liver
COSM5520842	c.3433C>T	p.Q1145*	Substitution - Nonsense	Biliary_tract
COSM5945892	c.3919C>T	p.P1307S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM254541	c.3634C>T	p.Q1212*	Substitution - Nonsense	Pancreas
COSM3733029	c.1277delC	p.P427fs*6	Deletion - Frameshift	Stomach
COSM243045	c.3736A>T	p.M1246L	Substitution - Missense	Prostate
COSM5020791	c.5717G>A	p.R1906Q	Substitution - Missense	Skin
COSM5731228	c.5684delA	p.E1895fs*28	Deletion - Frameshift	Central_nervous_system
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Endometrium
COSM51441	c.5161C>T	p.R1721*	Substitution - Nonsense	Ovary
COSM51449	c.4997_4997delC	p.P1667fs*6	Deletion - Frameshift	Ovary
COSM298325	c.3978_3980delGCA	p.Q1334delQ	Deletion - In frame	Large_intestine
COSM307322	c.2019delG	p.S674fs*68	Deletion - Frameshift	Liver
COSM1666620	c.?	p.K2159*	Substitution - Nonsense	Ovary
COSM254550	c.4477C>T	p.Q1493*	Substitution - Nonsense	Urinary_tract
COSM51863	c.3059G>A	p.R1020K	Substitution - Missense	Kidney
COSM51450	c.6139G>T	p.E2047*	Substitution - Nonsense	Endometrium
COSM1296224	c.3598C>T	p.Q1200*	Substitution - Nonsense	Stomach
COSM51417	c.4201C>T	p.Q1401*	Substitution - Nonsense	Skin
COSM5825559	c.4758C>T	p.S1586S	Substitution - coding silent	Pancreas
COSM251420	c.487G>A	p.A163T	Substitution - Missense	Liver
COSM5554053	c.6307T>C	p.F2103L	Substitution - Missense	Prostate
COSM51441	c.5161C>T	p.R1721*	Substitution - Nonsense	Liver
COSM251357	c.6774_6792del19	p.L2259fs*2	Deletion - Frameshift	Liver
COSM3487576	c.2094C>T	p.S698S	Substitution - coding silent	Skin
COSM1296220	c.1696C>T	p.Q566*	Substitution - Nonsense	Urinary_tract
COSM51222	c.4011_4012delTT	p.S1338fs*106	Deletion - Frameshift	Ovary
COSM4995438	c.4724C>A	p.P1575Q	Substitution - Missense	Upper_aerodigestive_tract
COSM133021	c.6403_6408delATTCTG	p.I2135_L2136del	Deletion - In frame	Lung
COSM4663219	c.1699delC	p.Q567fs*52	Deletion - Frameshift	Large_intestine
COSM83884	c.3826C>T	p.R1276*	Substitution - Nonsense	Stomach
COSM907713	c.3562C>T	p.Q1188*	Substitution - Nonsense	Endometrium
COSM4951085	c.1114_1115insG	p.Q372fs*28	Insertion - Frameshift	Liver
COSM254547	c.4750C>T	p.Q1584*	Substitution - Nonsense	Urinary_tract
COSM254547	c.4750C>T	p.Q1584*	Substitution - Nonsense	Urinary_tract
COSM5622689	c.791C>A	p.S264*	Substitution - Nonsense	Oesophagus
COSM5576248	c.6512T>C	p.L2171P	Substitution - Missense	Stomach
COSM907738	c.5290G>T	p.E1764*	Substitution - Nonsense	Endometrium
COSM5683454	c.210A>G	p.G70G	Substitution - coding silent	Soft_tissue
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Endometrium
COSM414506	c.2208C>T	p.I736I	Substitution - coding silent	Urinary_tract
COSM1236665	c.753_763del11	p.P252fs*144	Deletion - Frameshift	Autonomic_ganglia
COSM1341435	c.6706C>T	p.R2236C	Substitution - Missense	Endometrium
COSM5346925	c.6700_6708delGCTGCCCGC	p.A2235_A2237delARA	Deletion - In frame	Endometrium
COSM5443641	c.4902G>A	p.M1634I	Substitution - Missense	Oesophagus
COSM211768	c.6298C>T	p.Q2100*	Substitution - Nonsense	Endometrium
COSM1731931	c.2878delG	p.M961fs*7	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM2156052	c.3795C>T	p.G1265G	Substitution - coding silent	Central_nervous_system
COSM5946054	c.1237C>T	p.Q413*	Substitution - Nonsense	Pancreas
COSM51249	c.6625_6625delC	p.Q2209fs*22	Deletion - Frameshift	Ovary
COSM251380	c.3281_3282insA	p.Q1095fs*10	Insertion - Frameshift	Liver
COSM1666862	c.?	p.?	Unknown	Endometrium
COSM51475	c.4582C>T	p.R1528*	Substitution - Nonsense	Endometrium
COSM51475	c.4582C>T	p.R1528*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM133016	c.4524T>A	p.Y1508*	Substitution - Nonsense	Stomach
COSM357694	c.5329G>A	p.E1777K	Substitution - Missense	Lung
COSM51442	c.5566C>T	p.Q1856*	Substitution - Nonsense	Skin
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Endometrium
COSM51444	c.1185T>A	p.Y395*	Substitution - Nonsense	Ovary
COSM907726	c.4336C>T	p.R1446*	Substitution - Nonsense	Endometrium
COSM4031020	c.5125-1G>A	p.?	Unknown	Thyroid
COSM5752430	c.5350_5363del14	p.N1784fs*13	Deletion - Frameshift	Breast
COSM414504	c.5047G>C	p.E1683Q	Substitution - Missense	Urinary_tract
COSM1296224	c.3598C>T	p.Q1200*	Substitution - Nonsense	Endometrium
COSM5715358	c.2952delG	p.A985fs*54	Deletion - Frameshift	Breast
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Large_intestine
COSM1639808	c.822delG	p.G276fs*87	Deletion - Frameshift	Upper_aerodigestive_tract
COSM5601046	c.4853C>T	p.P1618L	Substitution - Missense	Skin
COSM907723	c.4003C>T	p.R1335*	Substitution - Nonsense	Endometrium
COSM5352318	c.?	p.?	Unknown	Endometrium
COSM4169295	c.?	p.A134fs*266	Unknown	Biliary_tract
COSM51464	c.1627C>T	p.Q543*	Substitution - Nonsense	Ovary
COSM5346996	c.4811C>A	p.S1604Y	Substitution - Missense	Endometrium
COSM251399	c.2632C>T	p.Q878*	Substitution - Nonsense	Biliary_tract
COSM3724485	c.3199-1G>T	p.?	Unknown	Large_intestine
COSM907705	c.2999_3000insT	p.S1001fs*6	Insertion - Frameshift	Endometrium
COSM251399	c.2632C>T	p.Q878*	Substitution - Nonsense	Urinary_tract
COSM133001	c.5548_5548delG	p.D1850fs*33	Deletion - Frameshift	Large_intestine
COSM1626990	c.4060delT	p.F1354fs*127	Deletion - Frameshift	Liver
COSM4990554	c.2380G>A	p.G794R	Substitution - Missense	Skin
COSM5347142	c.1390C>T	p.Q464*	Substitution - Nonsense	Endometrium
COSM278970	c.3667C>T	p.R1223C	Substitution - Missense	Large_intestine
COSM3487578	c.2292C>T	p.S764S	Substitution - coding silent	Skin
COSM166309	c.3854_3861ATGACAGA>T	p.Y1285fs*2	Deletion - Frameshift	Breast
COSM51470	c.2910_2911insG	p.D972fs*35	Insertion - Frameshift	Ovary
COSM3747843	c.5787T>G	p.S1929R	Substitution - Missense	Central_nervous_system
COSM211772	c.2368C>T	p.Q790*	Substitution - Nonsense	Large_intestine
COSM3977548	c.5219G>T	p.G1740V	Substitution - Missense	Lung
COSM5346964	c.4549_4550insC	p.Q1519fs*13	Insertion - Frameshift	Endometrium
COSM5802307	c.3163_3164insT	p.Y1055fs*50	Insertion - Frameshift	Breast
COSM51430	c.2424_2425insT	p.Y809fs*8	Insertion - Frameshift	Ovary
COSM907756	c.6624delC	p.Q2209fs*22	Deletion - Frameshift	Endometrium
COSM907725	c.4225C>T	p.Q1409*	Substitution - Nonsense	Endometrium
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Liver
COSM51483	c.4624G>T	p.E1542*	Substitution - Nonsense	Liver
COSM1667287	c.1756C>T	p.Q586*	Substitution - Nonsense	Ovary
COSM5483808	c.6259G>T	p.G2087*	Substitution - Nonsense	Large_intestine
COSM5993143	c.1309C>T	p.R437W	Substitution - Missense	Prostate
COSM236027	c.3223delG	p.E1075fs*18	Deletion - Frameshift	Autonomic_ganglia
COSM1644335	c.5541_5542insG	p.D1850fs*4	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5945829	c.?	p.E602*	Substitution - Nonsense	Pleura
COSM278970	c.3667C>T	p.R1223C	Substitution - Missense	Kidney
COSM3724470	c.4555_4556insC	p.Q1519fs*13	Insertion - Frameshift	Liver
COSM4031021	c.5202T>C	p.Y1734Y	Substitution - coding silent	Stomach
COSM1560693	c.3784C>T	p.R1262C	Substitution - Missense	Skin
COSM1341426	c.5542delG	p.D1850fs*33	Deletion - Frameshift	Breast
COSM5607832	c.2586C>T	p.S862S	Substitution - coding silent	Skin
COSM3724474	c.6694C>T	p.R2232W	Substitution - Missense	Endometrium
COSM907726	c.4336C>T	p.R1446*	Substitution - Nonsense	Stomach
COSM1341430	c.6415delC	p.F2141fs*59	Deletion - Frameshift	Endometrium
COSM4967970	c.5653G>T	p.A1885S	Substitution - Missense	Adrenal_gland
COSM5347129	c.1762C>T	p.Q588*	Substitution - Nonsense	Skin
COSM5347216	c.?_?del?	p.A1539fs*?	Deletion - Frameshift	Endometrium
COSM5380516	c.3408G>A	p.A1136A	Substitution - coding silent	Skin
COSM1602149	c.4258_4259insA	p.P1421fs*24	Insertion - Frameshift	Liver
COSM1168674	c.6785C>A	p.S2262*	Substitution - Nonsense	Pancreas
COSM357692	c.5172G>C	p.L1724L	Substitution - coding silent	Lung
COSM5347194	c.?_?del?	p.Y2254fs*?	Deletion - Frameshift	Endometrium
COSM3724484	c.3524_3524delC	p.P1175fs*5	Deletion - Frameshift	Large_intestine
COSM21759	c.2064C>T	p.H688H	Substitution - coding silent	Skin
COSM4663218	c.1638_1639insC	p.S547fs*76	Insertion - Frameshift	Large_intestine
COSM13835	c.2834delG	p.G945fs*23	Deletion - Frameshift	Lung
COSM907760	c.6707G>C	p.R2236P	Substitution - Missense	Endometrium
COSM5992207	c.2812G>A	p.A938T	Substitution - Missense	Prostate
COSM1718089	c.6416C>A	p.P2139H	Substitution - Missense	Skin
COSM4169392	c.?	p.P1569L	Substitution - Missense	Skin
COSM907734	c.5138T>C	p.L1713P	Substitution - Missense	Endometrium
COSM1666862	c.?	p.?	Unknown	Endometrium
COSM426009	c.5747C>G	p.S1916C	Substitution - Missense	Breast
COSM4965766	c.5848C>T	p.R1950W	Substitution - Missense	Pancreas
COSM5760720	c.4050_4051ins13	p.P1355fs*94	Insertion - Frameshift	Pancreas
COSM133017	c.6420_6420delC	p.F2141fs*59	Deletion - Frameshift	Large_intestine
COSM133027	c.1585C>T	p.Q529*	Substitution - Nonsense	Pancreas
COSM1602152	c.4984delA	p.D1663fs*10	Deletion - Frameshift	Liver
COSM51863	c.3059G>A	p.R1020K	Substitution - Missense	Pancreas
COSM51450	c.6139G>T	p.E2047*	Substitution - Nonsense	Ovary
COSM3487582	c.3057G>A	p.E1019E	Substitution - coding silent	Skin
COSM1341426	c.5542delG	p.D1850fs*33	Deletion - Frameshift	Stomach
COSM1666617	c.?	p.G1137*	Substitution - Nonsense	Ovary
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Endometrium
COSM1602135	c.927G>T	p.Q309H	Substitution - Missense	Liver
COSM1602146	c.3909G>T	p.G1303G	Substitution - coding silent	Liver
COSM3704481	c.2272C>T	p.Q758*	Substitution - Nonsense	Skin
COSM5347001	c.2686G>T	p.E896*	Substitution - Nonsense	Endometrium
COSM4169391	c.?	p.G800E	Substitution - Missense	Skin
COSM51421	c.5953T>C	p.S1985P	Substitution - Missense	Endometrium
COSM51475	c.4582C>T	p.R1528*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5348560	c.5511_5512insT	p.D1838fs*1	Insertion - Frameshift	Liver
COSM51432	c.6472C>T	p.R2158*	Substitution - Nonsense	Skin
COSM3360014	c.3472G>A	p.G1158R	Substitution - Missense	Kidney
COSM1296222	c.1901C>G	p.S634*	Substitution - Nonsense	Breast
COSM1639808	c.822delG	p.G276fs*87	Deletion - Frameshift	Biliary_tract
COSM4633730	c.804G>A	p.Q268Q	Substitution - coding silent	Large_intestine
COSM4387388	c.6776_6783delTGGACATC	p.L2259fs*16	Deletion - Frameshift	Lung
COSM51442	c.5566C>T	p.Q1856*	Substitution - Nonsense	Endometrium
COSM4031004	c.2060C>A	p.P687H	Substitution - Missense	Stomach
COSM5752476	c.537_546del10	p.G180fs*49	Deletion - Frameshift	Breast
COSM5761705	c.1882delA	p.M628fs*1	Deletion - Frameshift	Pancreas
COSM255049	c.5216_5249del34	p.G1740fs*19	Deletion - Frameshift	Urinary_tract
COSM4949888	c.128_129insGGC	p.A45_E46insA	Insertion - In frame	Liver
COSM4998896	c.6301G>A	p.D2101N	Substitution - Missense	Pancreas
COSM133004	c.5548_5549insG	p.D1850fs*4	Insertion - Frameshift	Prostate
COSM3487583	c.3368C>T	p.S1123F	Substitution - Missense	Skin
COSM374920	c.5578G>T	p.E1860*	Substitution - Nonsense	Stomach
COSM1718089	c.6416C>A	p.P2139H	Substitution - Missense	Skin
COSM1636667	c.?	p.R1637W	Substitution - Missense	Urinary_tract
COSM5752245	c.6533delA	p.D2178fs*22	Deletion - Frameshift	Breast
COSM3705751	c.5958T>G	p.N1986K	Substitution - Missense	Liver
COSM1580527	c.5216C>G	p.P1739R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5347142	c.1390C>T	p.Q464*	Substitution - Nonsense	Ovary
COSM5232762	c.1844delC	p.S617fs*2	Deletion - Frameshift	Breast
COSM3386059	c.6251T>G	p.V2084G	Substitution - Missense	Pancreas
COSM392100	c.1338_1339delTT	p.Q449fs*173	Deletion - Frameshift	Lung
COSM907702	c.2773G>T	p.G925*	Substitution - Nonsense	Endometrium
COSM1502573	c.5680C>T	p.Q1894*	Substitution - Nonsense	Skin
COSM1341386	c.540C>T	p.G180G	Substitution - coding silent	Large_intestine
COSM1602161	c.6765A>C	p.E2255D	Substitution - Missense	Liver
COSM51416	c.5518_5518delG	p.G1840fs*43	Deletion - Frameshift	Ovary
COSM4949880	c.5504A>G	p.Q1835R	Substitution - Missense	Liver
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Endometrium
COSM133014	c.4972C>T	p.R1658W	Substitution - Missense	Stomach
COSM907726	c.4336C>T	p.R1446*	Substitution - Nonsense	Stomach
COSM4663220	c.1748A>G	p.Q583R	Substitution - Missense	Large_intestine
COSM4773729	c.2180_2189del10	p.R727fs*12	Deletion - Frameshift	Stomach
COSM5948642	c.1003C>T	p.Q335*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM2235438	c.1921-2A>G	p.?	Unknown	Pancreas
COSM5946055	c.2989-1G>A	p.?	Unknown	Pancreas
COSM234202	c.3391C>T	p.Q1131*	Substitution - Nonsense	Endometrium
COSM5413341	c.4477C>A	p.Q1493K	Substitution - Missense	Skin
COSM4031000	c.526C>T	p.Q176*	Substitution - Nonsense	Liver
COSM83884	c.3826C>T	p.R1276*	Substitution - Nonsense	Endometrium
COSM3749047	c.4160A>G	p.E1387G	Substitution - Missense	Large_intestine
COSM4170634	c.646T>C	p.Y216H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4765107	c.5542_5543insG	p.D1850fs*4	Insertion - Frameshift	Stomach
COSM5367565	c.3030_3031insT	p.L1011fs*3	Insertion - Frameshift	Large_intestine
COSM5514012	c.5827delA	p.I1943fs*13	Deletion - Frameshift	Biliary_tract
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Endometrium
COSM5347065	c.359C>G	p.P120R	Substitution - Missense	Endometrium
COSM254546	c.3743C>A	p.S1248*	Substitution - Nonsense	Urinary_tract
COSM1296226	c.4087C>T	p.Q1363*	Substitution - Nonsense	Cervix
COSM5346915	c.2193delC	p.Q732fs*10	Deletion - Frameshift	Endometrium
COSM5618049	c.3895A>T	p.N1299Y	Substitution - Missense	Breast
COSM1341426	c.5542delG	p.D1850fs*33	Deletion - Frameshift	Biliary_tract
COSM51427	c.3211_3211delA	p.K1072fs*21	Deletion - Frameshift	Endometrium
COSM254543	c.5698G>A	p.D1900N	Substitution - Missense	Urinary_tract
COSM907726	c.4336C>T	p.R1446*	Substitution - Nonsense	Stomach
COSM1183543	c.3325C>T	p.R1109W	Substitution - Missense	Large_intestine
COSM5353399	c.1153G>T	p.D385Y	Substitution - Missense	Large_intestine
COSM5349512	c.?_?ins?	p.G1847fs*?	Insertion - Frameshift	Endometrium
COSM1666619	c.?	p.R2153fs*65	Unknown	Ovary
COSM907736	c.5197G>T	p.E1733*	Substitution - Nonsense	Urinary_tract
COSM3487585	c.4062C>T	p.F1354F	Substitution - coding silent	Skin
COSM907719	c.3959C>A	p.S1320Y	Substitution - Missense	Endometrium
COSM133031	c.2988+1G>A	p.?	Unknown	Pancreas
COSM907751	c.6248C>A	p.P2083H	Substitution - Missense	Endometrium
COSM907682	c.1274delA	p.Q425fs*8	Deletion - Frameshift	Endometrium
COSM4840266	c.5975C>A	p.S1992*	Substitution - Nonsense	Cervix
COSM5347198	c.?_?del?	p.G2087fs*?	Deletion - Frameshift	Endometrium
COSM5963220	c.4221A>T	p.P1407P	Substitution - coding silent	Breast
COSM362826	c.5999A>T	p.E2000V	Substitution - Missense	Lung
COSM4949789	c.1228G>A	p.G410R	Substitution - Missense	Liver
COSM307377	c.1508_1509insAAGGCCCCAGCGGGTATGGTCAACAGGGC	p.P504fs*125	Insertion - Frameshift	Kidney
COSM1341426	c.5542delG	p.D1850fs*33	Deletion - Frameshift	Stomach
COSM254551	c.1897C>T	p.Q633*	Substitution - Nonsense	Urinary_tract
COSM3724469	c.4098G>A	p.Q1366Q	Substitution - coding silent	Large_intestine
COSM426006	c.2542C>T	p.P848S	Substitution - Missense	Breast
COSM83884	c.3826C>T	p.R1276*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM298325	c.3978_3980delGCA	p.Q1334delQ	Deletion - In frame	Large_intestine
COSM2235544	c.5560C>T	p.H1854Y	Substitution - Missense	Large_intestine
COSM4490186	c.3597C>T	p.F1199F	Substitution - coding silent	Skin
COSM5347222	c.?_?del?	p.A1466fs*?	Deletion - Frameshift	Endometrium
COSM51418	c.5164C>T	p.R1722*	Substitution - Nonsense	Large_intestine
COSM51441	c.5161C>T	p.R1721*	Substitution - Nonsense	Endometrium
COSM4949635	c.31_56del26	p.S11fs*91	Deletion - Frameshift	Liver
COSM5607842	c.3329G>A	p.G1110E	Substitution - Missense	Skin
COSM1235374	c.942C>G	p.G314G	Substitution - coding silent	Breast
COSM5347136	c.1413C>A	p.Y471*	Substitution - Nonsense	Endometrium
COSM3487580	c.2605G>A	p.G869S	Substitution - Missense	Skin
COSM907684	c.1351-1G>T	p.?	Unknown	Endometrium
COSM133013	c.4743_4744delCA	p.I1582fs*20	Deletion - Frameshift	Stomach
COSM144171	c.4270C>T	p.Q1424*	Substitution - Nonsense	Large_intestine
COSM1602155	c.5975C>T	p.S1992L	Substitution - Missense	Liver
COSM3704481	c.2272C>T	p.Q758*	Substitution - Nonsense	Liver
COSM3727926	c.4716C>G	p.Y1572*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5347106	c.4432C>T	p.P1478S	Substitution - Missense	Endometrium
COSM4848070	c.1528C>T	p.Q510*	Substitution - Nonsense	Cervix
COSM1502574	c.4735C>T	p.Q1579*	Substitution - Nonsense	Endometrium
COSM255050	c.5606delG	p.P1870fs*13	Deletion - Frameshift	Urinary_tract
COSM1602148	c.3972delC	p.P1326fs*155	Deletion - Frameshift	Large_intestine
COSM271007	c.2306C>A	p.S769*	Substitution - Nonsense	Large_intestine
COSM83884	c.3826C>T	p.R1276*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM51418	c.5164C>T	p.R1722*	Substitution - Nonsense	Endometrium
COSM907715	c.3762C>T	p.G1254G	Substitution - coding silent	Endometrium
COSM2235522	c.4684delC	p.M1564fs*1	Deletion - Frameshift	Large_intestine
COSM4031014	c.4024C>T	p.Q1342*	Substitution - Nonsense	Endometrium
COSM4422813	c.6659A>G	p.N2220S	Substitution - Missense	Kidney
COSM133004	c.5548_5549insG	p.D1850fs*4	Insertion - Frameshift	Pancreas
COSM2156052	c.3795C>T	p.G1265G	Substitution - coding silent	Central_nervous_system
COSM2235456	c.2291delC	p.Q766fs*67	Deletion - Frameshift	Endometrium
COSM5815026	c.2879-2A>T	p.?	Unknown	Liver
COSM1666616	c.?	p.S157fs*236	Unknown	Ovary
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Large_intestine
COSM1744856	c.649_653delCCCAA	p.N218fs*180	Deletion - Frameshift	Biliary_tract
COSM2235544	c.5560C>T	p.H1854Y	Substitution - Missense	Large_intestine
COSM5368939	c.6383_6403del21	p.Q2128_I2135>L	Complex - deletion inframe	Haematopoietic_and_lymphoid_tissue
COSM5347190	c.?_?del?	p.G1847fs*?	Deletion - Frameshift	Endometrium
COSM51488	c.1007_1007delG	p.C336fs*27	Deletion - Frameshift	Ovary
COSM1602154	c.5683G>T	p.E1895*	Substitution - Nonsense	Liver
COSM51441	c.5161C>T	p.R1721*	Substitution - Nonsense	Endometrium
COSM133000	c.3344_3344delC	p.P1115fs*46	Deletion - Frameshift	Large_intestine
COSM1602159	c.6706_6707delCG	p.L2238fs*39	Deletion - Frameshift	Liver
COSM3977547	c.3820G>T	p.G1274*	Substitution - Nonsense	Lung
COSM4951085	c.1114_1115insG	p.Q372fs*28	Insertion - Frameshift	Liver
COSM5347203	c.?_?del?	p.Q920fs*?	Deletion - Frameshift	Endometrium
COSM5346989	c.6289G>T	p.A2097S	Substitution - Missense	Endometrium
COSM5825604	c.5040C>G	p.L1680L	Substitution - coding silent	Pancreas
COSM51423	c.1644_1645insC	p.Y551fs*72	Insertion - Frameshift	Endometrium
COSM51446	c.1177C>T	p.Q393*	Substitution - Nonsense	Urinary_tract
COSM51452	c.5294_5294delA	p.E1766fs*4	Deletion - Frameshift	Ovary
COSM51242	c.2868_2868delC	p.N956fs*12	Deletion - Frameshift	Ovary
COSM1341399	c.1800G>A	p.P600P	Substitution - coding silent	Large_intestine
COSM4031010	c.3469G>T	p.G1157*	Substitution - Nonsense	Stomach
COSM4413605	c.4096C>T	p.Q1366*	Substitution - Nonsense	Endometrium
COSM5346917	c.6704_6719del16	p.R2236fs*26	Deletion - Frameshift	Endometrium
COSM51465	c.6196A>G	p.N2066D	Substitution - Missense	Ovary
COSM145111	c.1223C>T	p.P408L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1296220	c.1696C>T	p.Q566*	Substitution - Nonsense	Cervix
COSM1502574	c.4735C>T	p.Q1579*	Substitution - Nonsense	Oesophagus
COSM1168673	c.2465_2466insT	p.Y823fs*49	Insertion - Frameshift	Pancreas
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Cervix
COSM51420	c.5540_5541insG	p.G1848fs*6	Insertion - Frameshift	Ovary
COSM3724471	c.5186G>A	p.G1729D	Substitution - Missense	Large_intestine
COSM3487579	c.2327C>T	p.P776L	Substitution - Missense	Skin
COSM3984936	c.3037G>A	p.E1013K	Substitution - Missense	Kidney
COSM4824318	c.2686G>C	p.E896Q	Substitution - Missense	Cervix
COSM5508250	c.702G>A	p.P234P	Substitution - coding silent	Biliary_tract
COSM5945994	c.5989A>G	p.N1997D	Substitution - Missense	Urinary_tract
COSM5990631	c.386G>A	p.S129N	Substitution - Missense	Liver
COSM132995	c.6228C>A	p.Y2076*	Substitution - Nonsense	Breast
COSM1602143	c.2732+1G>C	p.?	Unknown	Liver
COSM1639819	c.4550delC	p.Q1519fs*8	Deletion - Frameshift	Endometrium
COSM4663232	c.5051G>A	p.S1684N	Substitution - Missense	Large_intestine
COSM217035	c.1169_1170insT	p.M390fs*10	Insertion - Frameshift	Liver
COSM907713	c.3562C>T	p.Q1188*	Substitution - Nonsense	Stomach
COSM1235219	c.3440C>T	p.P1147L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2235592	c.6789A>G	p.V2263V	Substitution - coding silent	Large_intestine
COSM132992	c.6259G>A	p.G2087R	Substitution - Missense	Cervix
COSM1639824	c.6641G>C	p.S2214T	Substitution - Missense	Stomach
COSM5347043	c.4742A>G	p.H1581R	Substitution - Missense	Endometrium
COSM133005	c.1848_1848delC	p.S617fs*2	Deletion - Frameshift	Large_intestine
COSM4031017	c.4381C>T	p.R1461*	Substitution - Nonsense	Oesophagus
COSM5031759	c.1624C>T	p.Q542*	Substitution - Nonsense	Pancreas
COSM332817	c.1435C>T	p.Q479*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1666862	c.?	p.?	Unknown	Endometrium
COSM1639822	c.5689delC	p.P1898fs*25	Deletion - Frameshift	Stomach
COSM1245439	c.6045delC	p.L2016fs*14	Deletion - Frameshift	Oesophagus
COSM83884	c.3826C>T	p.R1276*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM426004	c.1582C>T	p.Q528*	Substitution - Nonsense	Breast
COSM5347204	c.?_?del?	p.T2138fs*?	Deletion - Frameshift	Endometrium
COSM51471	c.214G>T	p.E72*	Substitution - Nonsense	Ovary
COSM907729	c.4760_4772delGCCCTGCTCCCCT	p.A1589fs*19	Deletion - Frameshift	Endometrium
COSM1644335	c.5541_5542insG	p.D1850fs*4	Insertion - Frameshift	Breast
COSM5607834	c.2032C>T	p.Q678*	Substitution - Nonsense	Skin
COSM133022	c.4893_4894insC	p.M1634fs*14	Insertion - Frameshift	Central_nervous_system
COSM5949666	c.5941T>C	p.C1981R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2235515	c.4170C>T	p.S1390S	Substitution - coding silent	Large_intestine
COSM251401	c.1210C>T	p.Q404*	Substitution - Nonsense	Liver
COSM4951278	c.320_329del10	p.A107fs*4	Deletion - Frameshift	Liver
COSM1666858	c.?	p.W337*	Substitution - Nonsense	Lung
COSM907736	c.5197G>T	p.E1733*	Substitution - Nonsense	Large_intestine
COSM4663216	c.1496C>T	p.S499L	Substitution - Missense	Large_intestine
COSM5930415	c.2360C>T	p.S787F	Substitution - Missense	Skin
COSM4143736	c.1567T>C	p.S523P	Substitution - Missense	Thyroid
COSM4401613	c.2758C>T	p.Q920*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM907749	c.5980delG	p.V1994fs*21	Deletion - Frameshift	Endometrium
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Pancreas
COSM3724472	c.5336A>G	p.E1779G	Substitution - Missense	Large_intestine
COSM907698	c.2248C>T	p.R750*	Substitution - Nonsense	Endometrium
COSM907764	c.6761_6767delACGAATC	p.E2255fs*10	Deletion - Frameshift	Endometrium
COSM1602141	c.2179_2194del16	p.R727fs*10	Deletion - Frameshift	Liver
COSM5611226	c.2499_2500CC>TT	p.P834S	Substitution - Missense	Skin
COSM1602148	c.3972delC	p.P1326fs*155	Deletion - Frameshift	Liver
COSM133001	c.5548_5548delG	p.D1850fs*33	Deletion - Frameshift	Stomach
COSM4031000	c.526C>T	p.Q176*	Substitution - Nonsense	Stomach
COSM83884	c.3826C>T	p.R1276*	Substitution - Nonsense	Endometrium
COSM51424	c.1029_1043del15	p.A344_A348del	Deletion - In frame	Liver
COSM298325	c.3978_3980delGCA	p.Q1334delQ	Deletion - In frame	Large_intestine
COSM4937362	c.1350G>A	p.Q450Q	Substitution - coding silent	Liver
COSM5347143	c.4518T>G	p.Y1506*	Substitution - Nonsense	Endometrium
COSM5607836	c.1299C>T	p.T433T	Substitution - coding silent	Skin
COSM5352282	c.?	p.R1989*	Substitution - Nonsense	Lung
COSM51432	c.6472C>T	p.R2158*	Substitution - Nonsense	Stomach
COSM357695	c.5335G>A	p.E1779K	Substitution - Missense	Lung
COSM5812914	c.2731A>T	p.R911W	Substitution - Missense	Liver
COSM5881447	c.?	p.R1950Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4169920	c.598C>T	p.Q200*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM251400	c.3424C>T	p.Q1142*	Substitution - Nonsense	Liver
COSM51224	c.5202T>A	p.Y1734*	Substitution - Nonsense	Ovary
COSM51441	c.5161C>T	p.R1721*	Substitution - Nonsense	Endometrium
COSM4949635	c.31_56del26	p.S11fs*91	Deletion - Frameshift	Liver
COSM3487584	c.3961C>T	p.P1321S	Substitution - Missense	Skin
COSM1667289	c.4367C>T	p.P1456L	Substitution - Missense	Skin
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Endometrium
COSM3356562	c.220C>T	p.Q74*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3487587	c.5239C>T	p.P1747S	Substitution - Missense	Skin
COSM3724470	c.4555_4556insC	p.Q1519fs*13	Insertion - Frameshift	Large_intestine
COSM374920	c.5578G>T	p.E1860*	Substitution - Nonsense	Lung
COSM1717427	c.?	p.W2091*	Substitution - Nonsense	Biliary_tract
COSM4767415	c.1345C>T	p.Q449*	Substitution - Nonsense	Biliary_tract
COSM3724473	c.5715_5715delA	p.K1905fs*18	Deletion - Frameshift	Large_intestine
COSM96943	c.?	p.R2236C	Substitution - Missense	Pancreas
COSM1296227	c.5404G>T	p.E1802*	Substitution - Nonsense	Urinary_tract
COSM5346907	c.2178_2188del11	p.R727fs*86	Deletion - Frameshift	Endometrium
COSM5380517	c.3913C>T	p.P1305S	Substitution - Missense	Skin
COSM5607831	c.5170C>T	p.L1724L	Substitution - coding silent	Skin
COSM5945993	c.3453_3454insA	p.S1152fs*41	Insertion - Frameshift	Urinary_tract
COSM1296229	c.6103G>T	p.E2035*	Substitution - Nonsense	Urinary_tract
COSM2235531	c.5013_5034del22	p.M1673fs*9	Deletion - Frameshift	Oesophagus
COSM5347066	c.3659T>C	p.M1220T	Substitution - Missense	Endometrium
COSM3785246	c.1138-1G>T	p.?	Unknown	Pancreas
COSM307320	c.3137G>A	p.R1046K	Substitution - Missense	Liver
COSM251400	c.3424C>T	p.Q1142*	Substitution - Nonsense	Stomach
COSM5352519	c.875delC	p.T294fs*69	Deletion - Frameshift	Large_intestine
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Ovary
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Pancreas
COSM87889	c.1015delG	p.A339fs*24	Deletion - Frameshift	Liver
COSM907723	c.4003C>T	p.R1335*	Substitution - Nonsense	Stomach
COSM1667286	c.1683G>C	p.Q561H	Substitution - Missense	Large_intestine
COSM4401613	c.2758C>T	p.Q920*	Substitution - Nonsense	Skin
COSM5990636	c.2657C>T	p.P886L	Substitution - Missense	Liver
COSM184228	c.1561C>T	p.Q521*	Substitution - Nonsense	Large_intestine
COSM51243	c.1881_1881delT	p.D627fs*2	Deletion - Frameshift	Ovary
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Pancreas
COSM133027	c.1585C>T	p.Q529*	Substitution - Nonsense	Pancreas
COSM184236	c.2077C>T	p.R693*	Substitution - Nonsense	Endometrium
COSM298325	c.3978_3980delGCA	p.Q1334delQ	Deletion - In frame	Endometrium
COSM1639818	c.4350delC	p.Q1452fs*29	Deletion - Frameshift	Endometrium
COSM4663233	c.5872G>A	p.E1958K	Substitution - Missense	Large_intestine
COSM5202318	c.4768delC	p.L1591fs*21	Deletion - Frameshift	Breast
COSM5574171	c.5779G>C	p.A1927P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1734086	c.4348G>A	p.G1450S	Substitution - Missense	Pancreas
COSM5967144	c.964_988del25	p.D322fs*33	Deletion - Frameshift	Salivary_gland
COSM5801997	c.1108_1109insG	p.Q372fs*28	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4951278	c.320_329del10	p.A107fs*4	Deletion - Frameshift	Liver
COSM5990634	c.2509G>A	p.A837T	Substitution - Missense	Liver
COSM51457	c.1070_1070delG	p.S357fs*6	Deletion - Frameshift	Ovary
COSM464366	c.6824T>C	p.I2275T	Substitution - Missense	Kidney
COSM254551	c.1897C>T	p.Q633*	Substitution - Nonsense	Urinary_tract
COSM3724477	c.4403_4403delC	p.P1468fs*13	Deletion - Frameshift	Large_intestine
COSM109957	c.6316C>A	p.L2106M	Substitution - Missense	Skin
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Endometrium
COSM51424	c.1029_1043del15	p.A344_A348del	Deletion - In frame	Stomach
COSM1602155	c.5975C>T	p.S1992L	Substitution - Missense	Endometrium
COSM1602133	c.318_330del13	p.A107fs*3	Deletion - Frameshift	Liver
COSM51441	c.5161C>T	p.R1721*	Substitution - Nonsense	Stomach
COSM51219	c.6828_6829delTG	p.C2276fs*1	Deletion - Frameshift	Ovary
COSM5347470	c.4642_4654del13	p.H1548fs*13	Deletion - Frameshift	Liver
COSM5347125	c.3988C>T	p.Q1330*	Substitution - Nonsense	Endometrium
COSM5347095	c.2059C>T	p.P687S	Substitution - Missense	Endometrium
COSM5347004	c.1820C>A	p.S607*	Substitution - Nonsense	Endometrium
COSM1602151	c.4681G>C	p.V1561L	Substitution - Missense	Liver
COSM5607840	c.1675C>T	p.P559S	Substitution - Missense	Skin
COSM3724467	c.2840_2841insC	p.Y948fs*59	Insertion - Frameshift	Large_intestine
COSM4500235	c.5605C>T	p.R1869W	Substitution - Missense	Skin
COSM4949635	c.31_56del26	p.S11fs*91	Deletion - Frameshift	Salivary_gland
COSM5430711	c.4583G>A	p.R1528Q	Substitution - Missense	Oesophagus
COSM4031006	c.2308G>A	p.A770T	Substitution - Missense	Stomach
COSM907723	c.4003C>T	p.R1335*	Substitution - Nonsense	Endometrium
COSM51475	c.4582C>T	p.R1528*	Substitution - Nonsense	Ovary
COSM4031012	c.3788C>T	p.A1263V	Substitution - Missense	Stomach
COSM51461	c.2290_2291insC	p.Q766fs*51	Insertion - Frameshift	Ovary
COSM5446196	c.2162_2163insG	p.N722fs*95	Insertion - Frameshift	Thyroid
COSM4168356	c.407_410delCTCA	p.H137fs*94	Deletion - Frameshift	Peritoneum
COSM4999331	c.6094G>T	p.E2032*	Substitution - Nonsense	Pancreas
COSM211769	c.4683_4684insC	p.M1564fs*8	Insertion - Frameshift	Endometrium
COSM4663225	c.4166A>G	p.Y1389C	Substitution - Missense	Large_intestine
COSM251401	c.1210C>T	p.Q404*	Substitution - Nonsense	Liver
COSM1639813	c.2268delC	p.Q758fs*75	Deletion - Frameshift	Stomach
COSM5348135	c.5133delG	p.L1712fs*2	Deletion - Frameshift	Liver
COSM907723	c.4003C>T	p.R1335*	Substitution - Nonsense	Endometrium
COSM4751600	c.2834G>A	p.G945E	Substitution - Missense	Skin
COSM4765107	c.5542_5543insG	p.D1850fs*4	Insertion - Frameshift	Stomach
COSM5607839	c.6660C>T	p.N2220N	Substitution - coding silent	Skin
COSM254539	c.6381C>G	p.I2127M	Substitution - Missense	Urinary_tract
COSM5346934	c.3948delG	p.M1318fs*163	Deletion - Frameshift	Endometrium
COSM51224	c.5202T>A	p.Y1734*	Substitution - Nonsense	Kidney
COSM51441	c.5161C>T	p.R1721*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM254538	c.5975C>G	p.S1992*	Substitution - Nonsense	Urinary_tract
COSM4189179	c.6008_6009insAC	p.P2005fs*11	Insertion - Frameshift	Kidney
COSM145111	c.1223C>T	p.P408L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5053356	c.2999C>T	p.S1000F	Substitution - Missense	Stomach
COSM2235547	c.5614G>A	p.A1872T	Substitution - Missense	Endometrium
COSM254540	c.6806C>T	p.S2269L	Substitution - Missense	Urinary_tract
COSM251401	c.1210C>T	p.Q404*	Substitution - Nonsense	Large_intestine
COSM1172130	c.6160G>T	p.E2054*	Substitution - Nonsense	Oesophagus
COSM4169299	c.?	p.Q1519fs*8	Unknown	Biliary_tract
COSM4169393	c.?	p.P1563S	Substitution - Missense	Skin
COSM254541	c.3634C>T	p.Q1212*	Substitution - Nonsense	Urinary_tract
COSM1578112	c.1841C>G	p.S614*	Substitution - Nonsense	Urinary_tract
COSM51425	c.5965C>T	p.R1989*	Substitution - Nonsense	Endometrium
COSM1667287	c.1756C>T	p.Q586*	Substitution - Nonsense	Stomach
COSM5347204	c.?_?del?	p.T2138fs*?	Deletion - Frameshift	Endometrium
COSM5346928	c.4315_4355del41	p.A1439fs*38	Deletion - Frameshift	Endometrium
COSM4663229	c.4399delC	p.P1468fs*13	Deletion - Frameshift	Biliary_tract
COSM51237	c.1804G>T	p.E602*	Substitution - Nonsense	Ovary
COSM51426	c.1687C>T	p.Q563*	Substitution - Nonsense	Ovary
COSM4949632	c.1918C>G	p.P640A	Substitution - Missense	Liver
COSM5347207	c.?_?del?	p.Q548fs*?	Deletion - Frameshift	Endometrium
COSM5927999	c.1489C>T	p.Q497*	Substitution - Nonsense	Skin
COSM907723	c.4003C>T	p.R1335*	Substitution - Nonsense	Endometrium
COSM5380512	c.2655C>A	p.P885P	Substitution - coding silent	Skin
COSM5352285	c.?	p.H688P	Substitution - Missense	Endometrium
COSM251399	c.2632C>T	p.Q878*	Substitution - Nonsense	Liver
COSM3704481	c.2272C>T	p.Q758*	Substitution - Nonsense	Liver
COSM4169298	c.?	p.Q1452fs*29	Unknown	Biliary_tract
COSM132992	c.6259G>A	p.G2087R	Substitution - Missense	Stomach
COSM5959231	c.3490A>C	p.T1164P	Substitution - Missense	Thyroid
COSM1183546	c.3668G>A	p.R1223H	Substitution - Missense	Stomach
COSM3865206	c.4686C>T	p.P1562P	Substitution - coding silent	Skin
COSM51451	c.2306C>G	p.S769*	Substitution - Nonsense	Urinary_tract
COSM328012	c.6109C>T	p.Q2037*	Substitution - Nonsense	Breast
COSM907706	c.3039_3040insCT	p.G1015fs*25	Insertion - Frameshift	Endometrium

> Text Mining based Variations

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PMID	Variation	Cancer	Evidence
22922871	Mutation	Hepatitis B Virus-Related Hepatocellular Carcinoma	Notably, ARID1A, which encodes a component of the SWI/SNF chromatin remodeling complex, was mutated in 14 of 110 (13%) HBV-associated HCC specimens.
22810696	Mutation	Colon Carcinoma; Rectal Carcinoma	Twenty-four genes were significantly mutated, and in addition to the expected APC, TP53, SMAD4, PIK3CA and KRAS mutations, we found frequent mutations in ARID1A, SOX9 and FAM123B.
22653804	Mutation	Endometrioid Carcinoma of Endometrium	The molecular profile of carcinosarcomas suggests two distinct mutation profiles for these tumours: endometrioid-type (PTEN, PIK3CA, ARID1A, KRAS mutations) and serous-type (TP53 and PPP2R1A mutations).
22653341	Mutation (loss of function); Loss of expression	Endometrioid Carcinoma; Clear Cell Carcinoma	The loss of expression of ARID1A and the presence of inactivating mutations of the ARID1A gene further link this tumor to endometrioid and clear cell tumors, as does the frequent association with endometriosis.
22634756	Mutation	Hepatocellular Carcinoma	Multiple chromatin regulators, including ARID1A, ARID1B, ARID2, MLL and MLL3, were mutated in 50% of the tumors.
22585168	Mutation	Follicular Lymphoma	Six additional mutations were present in only one follicular lymphoma and not the donor lymphocyte infusion, including an ARID1A premature stop, indicating later acquisition during clonal divergence.
22525820	Mutation	Ovarian Clear Cell Tumor	Ovarian CCC tends to present at earlier stages and has been associated with endometriosis, ARID1A and PIK3CA mutations.
22484628	Mutation	Gastric Carcinoma	Frequently mutated genes in the adenocarcinomas included TP53 (11/15 tumors), PIK3CA (3/15) and ARID1A (3/15).; Frequent mutations in chromatin remodeling genes (ARID1A, MLL3 and MLL) also occurred in 47% of the gastric cancers.; Somatic inactivation of FAT4 and ARID1A may thus be key tumorigenic events in a subset of gastric cancers.
22408686	Mutation	Ovarian Clear Cell Tumor	ARID1A (the expression of whose product, BAF250a, a key complex component, is lost when mutated) has recently been identified as a tumor suppressor gene that is mutated in 46-57% of ovarian clear cell carcinoma (CCC).
22363625	Mutation	Ovarian carcinoma; Endometrial carcinoma	These findings also suggest that the tumor-suppressor activity of BRG1 is restricted to the basal cells of the mammary gland and demonstrate that this function extends to other female reproductive organs, consistent with recent observations of recurrent ARID1A/BAF250a mutations in human ovarian and endometrial tumors.
22304686	Mutation	Ovarian Carcinoma	Each histological type has a distinct molecular profile with mutations of genes involved in different signalling transduction pathways, such as KRAS, BRAF, CTNNB1, PTEN, PIK3CA and ARID1A.
22301703	Mutation	Ovarian Clear Cell Tumor; Endometrioid Carcinoma	ARID1A mutations are particularly frequent in endometriosis-associated ovarian clear cell and endometrioid carcinomas, and were recently described as a possible key mechanism and early step in the transformation of endometriosis into cancer.
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).
22193641	Mutation (loss of function)	Ovarian Clear Cell Tumor; Ovarian Endometrioid Tumor	Inactivating somatic mutations in the ARID1A gene are described in a significant fraction of clear cell and endometrioid ovarian cancers leading to loss of the corresponding protein (BAF250a).
22120431	Mutation; Loss of expression	Ovarian Clear Cell Adenocarcinoma	PIK3CA mutations and loss of ARID1A protein expression are early events in the development of cystic ovarian clear cell adenocarcinoma.; Somatic mutations of PIK3CA and ARID1A are the most common genetic alterations observed in ovarian clear cell adenocarcinomas (CCA).
22037554	Mutation	Gastric Carcinoma	Exome sequencing identifies frequent mutation of ARID1A in molecular subtypes of gastric cancer.
22032835	Mutation	Endometrioid Carcinoma; Clear Cell Carcinoma	Endometriosis is characterized by genetic instability: like neoplasms endometriosis seems to be monoclonal in origin, several studies have documented loss of heterozygosity (LOH) in endometriosis, data suggest that mutation of the tumor suppressor gene PTEN play a part in the malignant transformation of endometriosis, some studies have revealed TP53 mutations in endometriotic lesions, and mutation of ARID1A seems to be an important early event in the malignant transformation of endometriosis to endometrioid and clear cell carcinomas.
22009941	Mutation	Ovarian Clear Cell carcinoma	Mutations in the chromatin remodeling gene ARID1A have recently been identified in the majority of ovarian clear cell carcinomas (OCCCs).
21892209	Mutation	Breast Carcinoma	We identified ARID1A as a target of NMD in the T47D breast cancer cell line, likely as a consequence of a mutation in exon-9, which introduces a premature stop codon at position Q944.; These results suggest that ARID1A may be a candidate TSG in breast cancer.
21809064	Mutation	Ovarian Clear Cell Tumor; Endometrioid Carcinoma	Mutational analysis of ovarian clear cell carcinomas, endometrioid carcinomas and endometriotic lesions identified mutations in the ARID1A gene as common and early genetic changes in carcinomas with associated endometriosis and in atypical endometriosis itself.
21683865	Mutation	low-grade Ovarian Serous Carcinoma; low-grade Endometrioid Carcinoma; Ovarian Clear Cell Tumor; Ovarian Mucinous Carcinoma; Brenner Tumor	They are generally indolent, present in stage I (tumor confined to the ovary), and are characterized by specific mutations, including KRAS, BRAF, ERBB2, CTNNB1, PTEN, PIK3CA, ARID1A, and PPP2R1A, which target specific cell signaling pathways.
21412130	Mutation; Loss of expression	Low-grade Endometrioid Carcinoma of Endometrium	In conclusion, this study is the first large-scale analysis of a wide variety of carcinomas showing that uterine low-grade endometrioid carcinoma is the predominant tumor type harboring ARID1A mutations and frequent loss of ARID1A expression.
21278881	Mutation	Clear Cell Carcinoma	For ovarian cancer, bevacizumab as a leading molecular targeted agent, pegylated liposomal doxorubicin in recurrent disease, the role of neoadjuvant chemotherapy in an advanced setting, an effective screening method, and ARID1A mutations as a clue to the origin of clear cell carcinoma are mentioned.
21276610	Mutation	Ovarian Clear Cell Tumor	It is characterised by its association with endometriosis, and frequent mutations of ARID1A and PIK3CA.
20942669	Mutation	Ovarian Clear Cell Tumor; Endometrioid Carcinoma	Since ARID1A mutation and loss of BAF250a can be seen in the preneoplastic lesions, we speculate that this is an early event in the transformation of endometriosis into cancer.
20826764	Mutation	Ovarian Clear Cell Tumor	In a total of 42 OCCCs, 7% had mutations in PPP2R1A and 57% had mutations in ARID1A.; These results suggest that aberrant chromatin remodeling contributes to the pathogenesis of OCCC.
21614196	loss of expression (mutation)	Ovarian Clear Cell Tumor	Recent genome-wide analysis has demonstrated that somatic mutations in ARID1A (BAF250) are the most common molecular genetic changes in ovarian clear cell carcinoma (OCCC).; In conclusion, this study provides further evidence that mutations in ARID1A resulted in loss of ARID1A protein expression in OCCC, although no significant differences between ARID1A positive and negative cases were observed with respect to any clinicopathological features examined.
17492758	Mutation	Lung Adenocarcinoma	In further screening, we identified a lung adenocarcinoma cell line with a highly localized homozygous genomic deletion involving the 5' end of ARID1A.
21900401	Mutation	Endometrioid Carcinoma; Ovarian Clear Cell Tumor; Endometrioid Carcinoma of Endometrium	ARID1A (BAF250A) promotes the formation of SWI/SNF chromatin remodeling complexes containing BRG1 or BRM. It has emerged as a candidate tumor suppressor based on its frequent mutations in ovarian clear cell and endometrioid cancers and in uterine endometrioid carcinomas.
28611940	Mutation	Ovarian Clear Cell Carcinoma	Genes involved in chromatin remodeling, including ARID1A, SPOP, and KMT2D were frequently mutated across OCCC tumors.
28524162	Mutation	Colorectal Carcinoma	Next-generation sequencing analysis identified 1107 mutations in 275 genes in UCHR subjects. In addition to TP53 (17%) and KRAS (22%) mutations, recurrent mutations in APC (33%), ACVR2A (61%), ARID1A (44%), RAF1 (39%) and MTOR (61%) were observed in UCHR subjects.
28522256	Mutation	Hereditary Diffuse Gastric Adenocarcinoma	We identified somatic mutations in the following genes in a significant number of early-onset DGCs: the cadherin 1 gene (CDH1), TP53, ARID1A, KRAS, PIK3CA, ERBB3, TGFBR1, FBXW7, RHOA, and MAP2K1.
28485815	Mutation	Endometrial Carcinomaetrial Clear Cell Adenocarcinoma	Among the 63 cases of CCEC in this study, we identified frequent somatic mutations in TP53 (39.7%), PIK3CA (23.8%), PIK3R1 (15.9%), ARID1A (15.9%), PPP2R1A (15.9%), SPOP (14.3%), and TAF1 (9.5%), as well as MSI (11.3%).
28448305	Mutation	Endometrial Carcinoma; Lung Carcinoma	CDH10, ARID1A, and EMT-associated gene mutations were identified in metastatic tumor tissue but not in primary tumors from a patient with EEC and lung metastases.
28401006	Mutation; Loss of Expression; Underexpression	Ampulla of Vater Adenocarcinoma	In the ampullary adenocarcinomas, the frequency of KRAS and ARID1A mutations was 34.7% and 8.2% respectively, with a loss or reduction of ARID1A protein in 17.2% of the cases.
28302680	Mutation	Hepatocellular Carcinoma	Spatial genomic diversity was found in all 11 hepatocellular carcinoma cases, with 29% of driver mutations being heterogeneous, including TERT, ARID1A, NOTCH2, and STAG2.
28294689	Mutation	Waldenstrom Macroglobulinemia	Next-generation sequencing has revealed recurring somatic mutations in Waldenstrm macroglobulinemia (WM). Commonly recurring mutations include MYD88 (95% to 97%), CXCR4 (30% to 40%), ARID1A (17%), and CD79B (8% to 15%).
28271698	Mutation	Ovarian Carcinoma	Additionally, genetic mutations including PTEN, PIK3CA, ARID1A, Wnt/β-catenin, microsatellite instability, Src, and KRAS have been shown to be critical in the pathogenesis of endometriosis associated ovarian cancers
28188630	Mutation	Pancreatic Intraepithelial Neoplasia	Mutations in TP53, GNAS, ARID1A, PIK3CA, and TGFBR2 were limited to one or two HG-PanINs.
28153863	Mutation	Metaplastic Breast Carcinoma	MBCs harbored complex genomes with frequentTP53(69%) mutations. In contrast to triple-negative IDC-NSTs, MBCs more frequently harbored mutations inPIK3CA(29%),PIK3R1(11%),ARID1A(11%),FAT1(11%), andPTEN(11%).
28103826	Mutation	Lung Carcinoma; Endometrioid Adenocarcinoma	The patient developed a metachronous lung metastasis of an endometrioid adenocarcinoma four years after hyster- and adnexectomy, vaginal brachytherapy and treatment with the synthetic steroid tibolone. Removal of the metastasis and megestrol treatment for seven years led to a complete remission. A total of 409 genes from the Ampliseq Comprehensive Cancer Panel (Ion Torrent, Thermo Fisher) were analysed by next generation sequencing and mutations in 10 genes, including ARID1A, CTNNB1, PIK3CA and PTEN were identified and confirmed by Sanger sequencing.
27939411	Mutation	Ovarian Clear Cell Carcinoma	Seven genes (PIK3CA, ARID1A, CTNNB1, CSMD3, LPHN3, LRP1B, and TP53) were mutated in at least two independent OCCCs.
27925203	Mutation	Endometrial Carcinoma	Somatic mutations, such as ARID1A, PIK3CA, and PTEN, may promote the progression of benign endometriosis to carcinoma
27756662	Mutation	Meningioma	Three mutations were identified in all tumor samples exhibiting a high allelic frequency: ARID1A frameshift deletion, NF2 in-frame deletion, and missense variant of SRSF2.
27664537	Mutation	Sarcoma	Although we did not identify recurrent somatic mutations (point mutations or insertions/deletions), copy number analysis showed recurrent, broad copy number alterations, including gain of chromosome 8 and loss of 1p. In one sample pair (untreated primary and local recurrence resections), we identified similar copy number profiles and a somatic ARID1A R963X nonsense mutation exclusively in the local recurrence sample.
27634656	Mutation	Hepatocellular Carcinoma; Cholangiocarcinoma	ARID1A mutations correlated with alcoholic liver disease, smaller tumour size, a lower grade of coexistent HCC, and α-fetoprotein (AFP) positivity, and were associated with cholangiolocellular carcinoma subtype predominance (P < 0.05).
27562491	loss of expression (mutation)	Endometrial Carcinoma	All ARID1A and ARID1B co-mutated tumours displayed loss of ARID1A expression in the undifferentiated component with 11 of 12 tumours also displaying absent staining in the endometrioid component.
27270441	Mutation	Bladder Carcinoma	Non-silent sequence alterations were confirmed in 76 cancer-associated genes, including mutations that likely activate oncogenes TERT and PIK3CA, and alter chromatin-associated proteins (MLL3, ARID1A, CHD6 and KDM6A) and established BCa genes (TP53, RB1, CDKN2A and TSC1).
24905724	loss of expression (mutation)	Ovarian Endometrioid Adenocarcinoma	The loss of BAF250a protein expression is suggestive for the presence of ARID1A mutations, and represents an useful marker of malignant transformation of endometriosis.
25444907	mutation	Non-Small Cell Lung Carcinoma	Other genes with deleterious mutations in �? (13.0%) primary tumors were MLL3, SETD2, ATM, ARID1A, CRIPAK, HGF, BAI3, EP300, KDR, PDGRRA and RUNX1.
25462860	Mutation	Gastric Carcinoma	Moreover, somatic mutations of additional chromatin remodelers, such as ARID1A, SMARCA2, and SMARCA4, were found in 30% of gastric cancers.
25557364	loss of expression (mutation)	Endometrial Carcinoma	Approximately 30% to 40% of endometrial carcinomas harbor mutations in the ARID1A gene, which results in complete loss of ARID1A protein expression.
25625625	Mutation	Borderline Ovarian Clear Cell Adenofibroma with Intraepithelial Carcinoma	Ovarian clear-cell carcinoma (OCCC) is an aggressive form of ovarian cancer with high ARID1A mutation rates.
25626421	Mutation	Cervical Adenocarcinoma	These data revealed a heterogeneous mutation spectrum and identified several frequently altered genes including FAT1, ARID1A, ERBB2 and PIK3CA.
25692284	Mutation	Borderline Ovarian Clear Cell Adenofibroma with Intraepithelial Carcinoma	ARID1A and PIK3CA mutations appeared consistently in concurrent endometriosis when present in the primary CCC.
25779943	Mutation	Splenic Marginal Zone Lymphoma	We identified recurrent mutations in TP53 (16%), KLF2 (12%), NOTCH2 (10%), TNFAIP3 (7%), MLL2 (11%), MYD88 (7%), and ARID1A (6%), all genes known to be targeted by somatic mutation in SMZL.
26336887	Mutation	Mesonephric Neoplasm	Mutations in chromatin remodeling genes (ARID1A, ARID1B, or SMARCA4) were present in 62% of mesonephric carcinomas.
26403563	Mutation	Ovarian Carcinoma	The tumor suppression gene, ARID1A, is frequently disrupted in EAOC. The ARID1A mutation has been reported in preneoplastic lesions and may be an early marker in the transformation of endometriosis into cancer.
26468873	Mutation	Endemic Burkitt Lymphoma	Third, by comparing the eBL mutational landscape with published data on sporadic Burkitt lymphoma (sBL), we detected lower frequencies of mutations in MYC, ID3, TCF3 and TP53, and a higher frequency of mutation in ARID1A in eBL samples.
26676821	mutation	Hepatocellular Carcinoma	Precision genomic analysis of this tumor disclosed five alterations with amplifications of genes CCNE1, FGF3 and FGF4, MYCL1, and ARID1A. The roles of these gene mutations and their potential effects in carcinogenesis in this case are discussed.
26717940	Mutation	Cholangiocarcinoma	The most frequently mutated genes in EH-PCC were KRAS (47.4 %), TP53 (23.7 %) and ARID1A (15.8 %); in IH-PCC were KRAS (22.2 %), PBRM1 (16.7 %), and PIK3CA (16.7 %); and in ICC were IDH1 (17.1 %), NRAS (17.1 %), and BAP1 (14.3 %).
26899600	Mutation	Breast Carcinoma	For breast cancer, we identified a significant MEGS consisting of TP53 and four infrequently mutated genes (ARID1A, AKT1, MED23, and TBL1XR1), providing support for their role as cancer drivers.
27051059	Mutation	Ovarian Endometrioid Adenocarcinoma	ARID1A encodes a nuclear protein (BAF250a) governing chromatin remodeling, and mutations in ARID1A have been found in 30% to 50% of clear cell and endometrioid ovarian cancers.
27063598	mutation (loss of function)	Typical Acute Promyelocytic Leukemia	Our sequencing data also demonstrates incidence of loss-of-function mutations in previously unidentified genes, ARID1B and ARID1A, both of which encode for key components of the SWI/SNF complex.
27102345	mutation (loss of function)	Non-Hodgkin Lymphoma	Prioritized alterations in epigenetic modulators were common and included gain-of-function EZH2 and loss-of-function ARID1A mutations (14% of diffuse large B-cell lymphomas and 22% of follicular lymphomas contained alterations in each of these two genes).
27172896	mutation	Breast Carcinoma	Our findings provide a rationale for why tumors accumulate ARID1A mutations and identify high ANXA1 expression as a predictive biomarker for trastuzumab-based treatment.
27282397	Mutation	Pineal Parenchymal Cell Neoplasm	Genetic analysis of a pineoblastoma case identified somatic mutations of DICER1, ARID1A, and KDM5C genes.
27301862	Mutation	Waldenstrom Macroglobulinemia	Whole-genome sequencing has identified highly prevalent somatic mutations including MYD88, CXCR4, and ARID1A in Waldenstrm macroglobulinemia (WM).
27308548	Mutation	Borderline Ovarian Clear Cell Adenofibroma with Intraepithelial Carcinoma	Most notably, ARID1A is mutated in over 50% of ovarian clear cell carcinomas (OCCCs).
27313181	Mutation	Gastric Carcinoma	Chromatin modifier genes, including ARID1A (21%), MLL2 (19%), MLL3 (15%), and KDM6A (7%), were frequently mutated (47%) in MGC.
27323812	Mutation	Gastric Carcinoma	The tumor suppressor gene AT-rich interactive domain-containing protein 1A (ARID1A) was frequently mutated in cancers.
27334809	loss of expression (mutation)	Liver and Intrahepatic Bile Duct Carcinoma	Given frequent inactivating mutations in a chromatin-remodeling gene (ARID1A) in intrahepatic cholangiocarcinoma in recent exome sequencing analysis, this study investigates the clinicopathologic significance of the loss of ARID1A expression in biliary carcinomas.
27354232	Mutation	Gastric Carcinoma	The chromatin remodeling gene, AT-rich interactive domain 1A gene (ARID1A), frequently mutates inactively in gastric cancer (GC).
27364904	Mutation	Borderline Ovarian Clear Cell Adenofibroma with Intraepithelial Carcinoma	Using a series of high-throughput cell-based drug screens in OCCC tumor cell models, we have identified a synthetic lethal (SL) interaction between the kinase inhibitor dasatinib and a key driver in OCCC, ARID1A mutation.
27486766	underexpression (mutation)	Malignant Female Reproductive System Neoplasm	Inactivating mutations in ARID1A are found in a broad spectrum of cancer types, with the highest frequency in gynecologic cancers.
27562491	underexpression (mutation)	Undifferentiated Ovarian Carcinoma	We identified concurrent inactivating mutations involving ARID1A and ARID1B in 12 of 24 BRG1/INI1-intact, 0 of 3 INI1-deficient and 0 of 16 BRG1-deficient dedifferentiated carcinomas.
27634656	Mutation	Combined Hepatocellular Carcinoma and Cholangiocarcinoma	Mutations in KRAS, IDH1/2, ARID1A, the TERT promoter and TP53 were detected in four (7.5%), six (11.8%) seven (13.2%), 16 (31.3%), and 24 patients (45.3%), respectively.
27654507	Mutation	Borderline Ovarian Clear Cell Adenofibroma with Intraepithelial Carcinoma	In a complementary experiment, expression of wild-type ARID1A in an ovarian clear cell carcinoma cell line containing mutated ARID1A, OVISE, affected the mevalonate pathway in a reciprocal manner.
27664537	Mutation	Soft Tissue Sarcoma	In one sample pair (untreated primary and local recurrence resections), we identified similar copy number profiles and a somatic ARID1A R963X nonsense mutation exclusively in the local recurrence sample.
27677953	Mutation	Gastric Carcinoma	Based on the recent TCGA report, the specific fingerprint of genomic alterations in EBVaGC is marked by mutations in PIK3CA, ARID1A and BCOR genes, and amplification of 9p24.1 that harbors the genes for the JAK2, PD-L1 and PD-L2 proteins.
27681437	Mutation	Borderline Ovarian Clear Cell Adenofibroma with Intraepithelial Carcinoma	ARID1A is frequently mutated in ovarian clear cell carcinoma (OCCC) and often co-exists with activating mutations of PIK3CA.
27729836	Mutation	Nasal Type Extranodal NK/T-Cell Lymphoma	Mutations were also found in ARID1A, a chromatin remodeling gene, and TP53, which also recurred in recent NGS studies.
27756662	Mutation	Meningioma	Three mutations were identified in all tumor samples exhibiting a high allelic frequency: ARID1A frameshift deletion, NF2 in-frame deletion, and missense variant of SRSF2.

Summary
Symbol	ARID1A
Name	AT-rich interaction domain 1A
Aliases	B120; C10rf4; BAF250; BAF250a; C1orf4; SMARCF1; SWI/SNF related, matrix associated, actin dependent regulato ......
Location	1p36.11
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
O14497	58	S	Phosphoserine	-	No	None detected
O14497	79	S	Phosphoserine	-	No	None detected
O14497	233	S	Phosphoserine	-	No	None detected
O14497	286	T	Phosphothreonine	-	Yes	p.TP286fs (cancer: STAD)
O14497	301	S	Phosphoserine	-	No	None detected
O14497	363	S	Phosphoserine	-	No	None detected
O14497	382	S	Phosphoserine	-	No	None detected
O14497	429	R	Asymmetric dimethylarginine	-	No	None detected
O14497	604	S	Phosphoserine	-	No	None detected
O14497	696	S	Phosphoserine	-	No	None detected
O14497	698	S	Phosphoserine	-	No	None detected
O14497	702	S	Phosphoserine	-	No	None detected
O14497	730	S	Phosphoserine	-	Yes	p.S730fs (cancer: HNSC)
O14497	764	S	Phosphoserine	-	Yes	p.S764fs (cancer: COAD, LUAD, STAD)
O14497	772	S	Phosphoserine	-	No	None detected
O14497	1184	S	Phosphoserine	-	Yes	p.S1184L (cancer: CESC)
O14497	1235	S	Phosphoserine	-	No	None detected
O14497	1276	R	Omega-N-methylarginine	-	Yes	p.R1276* (cancer: PAAD, UCEC)
O14497	1604	S	Phosphoserine	-	No	None detected
O14497	1612	K	N6-acetyllysine	-	No	None detected
O14497	1751	S	Phosphoserine	-	No	None detected
O14497	1754	S	Phosphoserine	-	No	None detected
O14497	1888	T	Phosphothreonine	-	No	None detected
O14497	1905	K	N6-acetyllysine	-	No	None detected
O14497	1929	S	Phosphoserine	-	Yes	p.S1929R (cancer: GBM)
O14497	1944	S	Phosphoserine	-	No	None detected

Summary
Symbol	ARID1A
Name	AT-rich interaction domain 1A
Aliases	B120; C10rf4; BAF250; BAF250a; C1orf4; SMARCF1; SWI/SNF related, matrix associated, actin dependent regulato ......
Location	1p36.11
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)

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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	6.935	6.933	-0.008	0.967	NS
BRCA	Breast invasive carcinoma	112	1100	7.031	7.31	0.238	1.16e-05	NS
CESC	Cervical and endocervical cancers	3	306	6.502	6.927	NA	NA	NA
COAD	Colon adenocarcinoma	41	459	7.025	6.713	-0.266	0.00374	NS
ESCA	Esophageal carcinoma	11	185	7.823	7.703	-0.102	0.611	NS
GBM	Glioblastoma multiforme	5	166	7.023	6.785	NA	NA	NA
HNSC	Head and Neck squamous cell carcinoma	44	522	6.895	6.859	-0.007	0.95	NS
KIRC	Kidney renal clear cell carcinoma	72	534	6.923	6.504	-0.422	6.03e-13	NS
KIRP	Kidney renal papillary cell carcinoma	32	291	6.941	6.238	-0.666	3.5e-09	Under
LAML	Acute Myeloid Leukemia	0	173	NA	8.965	NA	NA	NA
LGG	Brain Lower Grade Glioma	0	530	NA	7.059	NA	NA	NA
LIHC	Liver hepatocellular carcinoma	50	373	5.591	5.55	-0.048	0.656	NS
LUAD	Lung adenocarcinoma	59	517	6.998	7.156	0.195	0.0206	NS
LUSC	Lung squamous cell carcinoma	51	501	6.999	7.056	0.097	0.308	NS
OV	Ovarian serous cystadenocarcinoma	0	307	NA	7.715	NA	NA	NA
PAAD	Pancreatic adenocarcinoma	4	179	6.711	6.606	NA	NA	NA
PCPG	Pheochromocytoma and Paraganglioma	3	184	6.504	5.969	NA	NA	NA
PRAD	Prostate adenocarcinoma	52	498	7.083	7.148	0.125	0.134	NS
READ	Rectum adenocarcinoma	10	167	6.865	6.745	-0.001	0.997	NS
SARC	Sarcoma	2	263	6.15	6.677	NA	NA	NA
SKCM	Skin Cutaneous Melanoma	1	472	6.73	6.96	NA	NA	NA
STAD	Stomach adenocarcinoma	35	415	7.475	7.543	0.051	0.666	NS
TGCT	Testicular Germ Cell Tumors	0	156	NA	7.207	NA	NA	NA
THCA	Thyroid carcinoma	59	509	7.388	7.145	-0.195	0.00257	NS
THYM	Thymoma	2	120	7.895	7.17	NA	NA	NA
UCEC	Uterine Corpus Endometrial Carcinoma	35	546	6.801	6.957	0.073	0.602	NS

> Cancer Cell Line Encyclopedia (CCLE)

[ TOP ]

Tissue	Cell Line	Expression Level (Microarray)
Autonomic ganglia	CHP126	9
Autonomic ganglia	CHP212	8.1
Autonomic ganglia	IMR32	8.7
Autonomic ganglia	KELLY	9
Autonomic ganglia	KPNRTBM1	8.5
Autonomic ganglia	KPNSI9S	8.4
Autonomic ganglia	KPNYN	8.7
Autonomic ganglia	MHHNB11	8.6
Autonomic ganglia	NB1	8.8
Autonomic ganglia	NH6	8.3
Autonomic ganglia	SHSY5Y	9.3
Autonomic ganglia	SIMA	8.8
Autonomic ganglia	SKNAS	9
Autonomic ganglia	SKNBE2	8.6
Autonomic ganglia	SKNDZ	9.1
Autonomic ganglia	SKNFI	9.1
Autonomic ganglia	SKNSH	8.3
Biliary tract	HUCCT1	8.5
Biliary tract	HUH28	7.6
Biliary tract	SNU1079	8.4
Biliary tract	SNU1196	8.4
Biliary tract	SNU245	8.5
Biliary tract	SNU308	8.8
Biliary tract	SNU478	8.4
Bone	143B	8.7
Bone	A673	9.2
Bone	CADOES1	8.7
Bone	CAL78	9
Bone	G292CLONEA141B1	8.4
Bone	HOS	8.6
Bone	HS706T	8.2
Bone	HS737T	7.9
Bone	HS819T	7.8
Bone	HS821T	8.2
Bone	HS822T	7.7
Bone	HS863T	8.1
Bone	HS870T	7.7
Bone	HS888T	8.3
Bone	MG63	8.5
Bone	MHHES1	9.6
Bone	OUMS27	8.2
Bone	RDES	9.9
Bone	SJSA1	8.7
Bone	SKES1	9.4
Bone	SKNMC	9.7
Bone	SW1353	8.5
Bone	T173	8
Bone	TC71	8.9
Bone	U2OS	8.8
Breast	AU565	8.8
Breast	BT20	8.8
Breast	BT474	8.7
Breast	BT483	9
Breast	BT549	9.4
Breast	CAL120	7.5
Breast	CAL148	10.2
Breast	CAL51	9.2
Breast	CAL851	8.1
Breast	CAMA1	8.4
Breast	DU4475	9
Breast	EFM192A	8.5
Breast	EFM19	7.7
Breast	EVSAT	8.5
Breast	HCC1143	8.5
Breast	HCC1187	9.1
Breast	HCC1395	8.7
Breast	HCC1419	7.4
Breast	HCC1428	9.2
Breast	HCC1500	8.1
Breast	HCC1569	8.2
Breast	HCC1599	8.7
Breast	HCC1806	8.8
Breast	HCC1937	8.2
Breast	HCC1954	8.4
Breast	HCC202	9
Breast	HCC2157	8.7
Breast	HCC2218	7.9
Breast	HCC38	8.4
Breast	HCC70	9.4
Breast	HDQP1	8.2
Breast	HMC18	9
Breast	HS274T	8.3
Breast	HS281T	8.1
Breast	HS343T	8.2
Breast	HS578T	8.5
Breast	HS606T	7.9
Breast	HS739T	8.1
Breast	HS742T	7.6
Breast	JIMT1	8.6
Breast	KPL1	8.7
Breast	MCF7	8.8
Breast	MDAMB134VI	8.2
Breast	MDAMB157	8.2
Breast	MDAMB175VII	7.1
Breast	MDAMB231	8.3
Breast	MDAMB361	8.8
Breast	MDAMB415	8.6
Breast	MDAMB436	8.1
Breast	MDAMB453	9.4
Breast	MDAMB468	8.4
Breast	SKBR3	8.8
Breast	T47D	7.3
Breast	UACC812	8.5
Breast	UACC893	8.8
Breast	YMB1	8.3
Breast	ZR751	7.7
Breast	ZR7530	8.5
Central nervous system	1321N1	8.5
Central nervous system	42MGBA	8.6
Central nervous system	8MGBA	8.4
Central nervous system	A172	7.7
Central nervous system	AM38	8.2
Central nervous system	BECKER	9
Central nervous system	CAS1	8.1
Central nervous system	CCFSTTG1	8.6
Central nervous system	D283MED	9.4
Central nervous system	D341MED	8.9
Central nervous system	DAOY	8.6
Central nervous system	DBTRG05MG	7.5
Central nervous system	DKMG	8.2
Central nervous system	GAMG	8
Central nervous system	GB1	9.5
Central nervous system	GI1	8.3
Central nervous system	GMS10	8.3
Central nervous system	GOS3	7.2
Central nervous system	H4	8.6
Central nervous system	HS683	8.5
Central nervous system	KALS1	8.3
Central nervous system	KG1C	7.7
Central nervous system	KNS42	8.4
Central nervous system	KNS60	8
Central nervous system	KNS81	7.2
Central nervous system	KS1	8
Central nervous system	LN18	8.9
Central nervous system	LN229	8.5
Central nervous system	M059K	8.6
Central nervous system	MOGGCCM	8.6
Central nervous system	MOGGUVW	8.8
Central nervous system	NMCG1	8.2
Central nervous system	ONS76	8.6
Central nervous system	SF126	8.1
Central nervous system	SF295	8.3
Central nervous system	SNB19	8.2
Central nervous system	SNU1105	8.7
Central nervous system	SNU201	8.1
Central nervous system	SNU466	8.3
Central nervous system	SNU489	9
Central nervous system	SNU626	7.8
Central nervous system	SNU738	8.1
Central nervous system	SW1088	8.3
Central nervous system	SW1783	8
Central nervous system	T98G	8
Central nervous system	TM31	8.5
Central nervous system	U118MG	8.9
Central nervous system	U138MG	8.3
Central nervous system	U251MG	8.4
Central nervous system	U87MG	8.4
Central nervous system	YH13	8.4
Central nervous system	YKG1	8.2
Endometrium	AN3CA	9.7
Endometrium	COLO684	9.9
Endometrium	EFE184	6.7
Endometrium	EN	8.5
Endometrium	ESS1	8
Endometrium	HEC108	8
Endometrium	HEC151	7.6
Endometrium	HEC1A	8.8
Endometrium	HEC1B	9.3
Endometrium	HEC251	7.8
Endometrium	HEC265	7.9
Endometrium	HEC50B	7.8
Endometrium	HEC59	8.5
Endometrium	HEC6	8.3
Endometrium	ISHIKAWAHERAKLIO02ER	8.6
Endometrium	JHUEM1	8.7
Endometrium	JHUEM2	8.9
Endometrium	JHUEM3	7.7
Endometrium	KLE	8.9
Endometrium	MFE280	8.3
Endometrium	MFE296	8.2
Endometrium	MFE319	8.7
Endometrium	RL952	7.8
Endometrium	SNGM	8.8
Endometrium	SNU1077	7.9
Endometrium	SNU685	8.8
Endometrium	TEN	8.6
Haematopoietic and lymphoid	697	9.6
Haematopoietic and lymphoid	A3KAW	9.1
Haematopoietic and lymphoid	A4FUK	9.1
Haematopoietic and lymphoid	ALLSIL	9.9
Haematopoietic and lymphoid	AML193	9.1
Haematopoietic and lymphoid	AMO1	9
Haematopoietic and lymphoid	BCP1	9.2
Haematopoietic and lymphoid	BDCM	8.7
Haematopoietic and lymphoid	BL41	9.3
Haematopoietic and lymphoid	BL70	9.6
Haematopoietic and lymphoid	BV173	9.2
Haematopoietic and lymphoid	CA46	9.2
Haematopoietic and lymphoid	CI1	9.1
Haematopoietic and lymphoid	CMK115	9.1
Haematopoietic and lymphoid	CMK86	10.1
Haematopoietic and lymphoid	CMK	9.4
Haematopoietic and lymphoid	CMLT1	9.6
Haematopoietic and lymphoid	COLO775	9.4
Haematopoietic and lymphoid	DAUDI	9.2
Haematopoietic and lymphoid	DB	8.8
Haematopoietic and lymphoid	DEL	8.7
Haematopoietic and lymphoid	DND41	10.1
Haematopoietic and lymphoid	DOHH2	9.6
Haematopoietic and lymphoid	EB1	9.1
Haematopoietic and lymphoid	EB2	9.4
Haematopoietic and lymphoid	EHEB	9.1
Haematopoietic and lymphoid	EJM	9.1
Haematopoietic and lymphoid	EM2	8.8
Haematopoietic and lymphoid	EOL1	9.5
Haematopoietic and lymphoid	F36P	9.2
Haematopoietic and lymphoid	GA10	9
Haematopoietic and lymphoid	GDM1	9.1
Haematopoietic and lymphoid	GRANTA519	8.5
Haematopoietic and lymphoid	HDLM2	9.1
Haematopoietic and lymphoid	HDMYZ	8.2
Haematopoietic and lymphoid	HEL9217	9.1
Haematopoietic and lymphoid	HEL	9.1
Haematopoietic and lymphoid	HH	9.9
Haematopoietic and lymphoid	HL60	9.6
Haematopoietic and lymphoid	HPBALL	10.3
Haematopoietic and lymphoid	HS604T	8.2
Haematopoietic and lymphoid	HS611T	8.8
Haematopoietic and lymphoid	HS616T	8
Haematopoietic and lymphoid	HS751T	8.3
Haematopoietic and lymphoid	HT	9.2
Haematopoietic and lymphoid	HTK	8.8
Haematopoietic and lymphoid	HUNS1	9
Haematopoietic and lymphoid	HUT102	8.7
Haematopoietic and lymphoid	HUT78	8.9
Haematopoietic and lymphoid	JEKO1	10
Haematopoietic and lymphoid	JK1	9
Haematopoietic and lymphoid	JM1	9.6
Haematopoietic and lymphoid	JURKAT	9.3
Haematopoietic and lymphoid	JURLMK1	8.6
Haematopoietic and lymphoid	JVM2	8.7
Haematopoietic and lymphoid	JVM3	8.9
Haematopoietic and lymphoid	K562	9.3
Haematopoietic and lymphoid	KARPAS299	8.9
Haematopoietic and lymphoid	KARPAS422	9.3
Haematopoietic and lymphoid	KARPAS620	9.6
Haematopoietic and lymphoid	KASUMI1	9.5
Haematopoietic and lymphoid	KASUMI2	9.7
Haematopoietic and lymphoid	KASUMI6	9.3
Haematopoietic and lymphoid	KCL22	9.1
Haematopoietic and lymphoid	KE37	9.8
Haematopoietic and lymphoid	KE97	8.5
Haematopoietic and lymphoid	KG1	9.2
Haematopoietic and lymphoid	KHM1B	8.9
Haematopoietic and lymphoid	KIJK	8.5
Haematopoietic and lymphoid	KMH2	9.3
Haematopoietic and lymphoid	KMM1	8.9
Haematopoietic and lymphoid	KMS11	9.1
Haematopoietic and lymphoid	KMS12BM	8.8
Haematopoietic and lymphoid	KMS18	9
Haematopoietic and lymphoid	KMS20	9.5
Haematopoietic and lymphoid	KMS21BM	8.5
Haematopoietic and lymphoid	KMS26	8.6
Haematopoietic and lymphoid	KMS27	8.4
Haematopoietic and lymphoid	KMS28BM	8.7
Haematopoietic and lymphoid	KMS34	9.1
Haematopoietic and lymphoid	KO52	9.5
Haematopoietic and lymphoid	KOPN8	9.8
Haematopoietic and lymphoid	KU812	9.5
Haematopoietic and lymphoid	KYO1	8.7
Haematopoietic and lymphoid	L1236	8.6
Haematopoietic and lymphoid	L363	9.6
Haematopoietic and lymphoid	L428	9.1
Haematopoietic and lymphoid	L540	9.3
Haematopoietic and lymphoid	LAMA84	9.5
Haematopoietic and lymphoid	LOUCY	9.6
Haematopoietic and lymphoid	LP1	9.8
Haematopoietic and lymphoid	M07E	9.9
Haematopoietic and lymphoid	MC116	9.1
Haematopoietic and lymphoid	ME1	9.4
Haematopoietic and lymphoid	MEC1	8.6
Haematopoietic and lymphoid	MEC2	9.4
Haematopoietic and lymphoid	MEG01	8.8
Haematopoietic and lymphoid	MHHCALL2	9.6
Haematopoietic and lymphoid	MHHCALL3	9.8
Haematopoietic and lymphoid	MHHCALL4	9.9
Haematopoietic and lymphoid	MINO	9.5
Haematopoietic and lymphoid	MJ	8.8
Haematopoietic and lymphoid	MM1S	9.6
Haematopoietic and lymphoid	MOLM13	9.2
Haematopoietic and lymphoid	MOLM16	9.5
Haematopoietic and lymphoid	MOLM6	9.9
Haematopoietic and lymphoid	MOLP2	8.8
Haematopoietic and lymphoid	MOLP8	8.9
Haematopoietic and lymphoid	MOLT13	10.3
Haematopoietic and lymphoid	MOLT16	9.7
Haematopoietic and lymphoid	MOLT4	9.2
Haematopoietic and lymphoid	MONOMAC1	9.4
Haematopoietic and lymphoid	MONOMAC6	9.6
Haematopoietic and lymphoid	MOTN1	8.9
Haematopoietic and lymphoid	MUTZ5	10
Haematopoietic and lymphoid	MV411	9.7
Haematopoietic and lymphoid	NALM19	9.6
Haematopoietic and lymphoid	NALM1	9.7
Haematopoietic and lymphoid	NALM6	9.6
Haematopoietic and lymphoid	NAMALWA	9.5
Haematopoietic and lymphoid	NB4	9.1
Haematopoietic and lymphoid	NCIH929	9
Haematopoietic and lymphoid	NCO2	8.9
Haematopoietic and lymphoid	NOMO1	9.1
Haematopoietic and lymphoid	NUDHL1	9.4
Haematopoietic and lymphoid	NUDUL1	9.9
Haematopoietic and lymphoid	OCIAML2	9.5
Haematopoietic and lymphoid	OCIAML3	9.8
Haematopoietic and lymphoid	OCIAML5	9.6
Haematopoietic and lymphoid	OCILY10	9.4
Haematopoietic and lymphoid	OCILY19	9.4
Haematopoietic and lymphoid	OCILY3	8.4
Haematopoietic and lymphoid	OCIM1	8.8
Haematopoietic and lymphoid	OPM2	9.9
Haematopoietic and lymphoid	P12ICHIKAWA	10.4
Haematopoietic and lymphoid	P31FUJ	8.4
Haematopoietic and lymphoid	P3HR1	9.2
Haematopoietic and lymphoid	PCM6	9.2
Haematopoietic and lymphoid	PEER	9.7
Haematopoietic and lymphoid	PF382	10
Haematopoietic and lymphoid	PFEIFFER	9.2
Haematopoietic and lymphoid	PL21	9.4
Haematopoietic and lymphoid	RAJI	9.3
Haematopoietic and lymphoid	RCHACV	9.4
Haematopoietic and lymphoid	REC1	9.3
Haematopoietic and lymphoid	REH	9
Haematopoietic and lymphoid	RI1	9.6
Haematopoietic and lymphoid	RL	8.7
Haematopoietic and lymphoid	RPMI8226	9
Haematopoietic and lymphoid	RPMI8402	10
Haematopoietic and lymphoid	RS411	9.3
Haematopoietic and lymphoid	SEM	9.3
Haematopoietic and lymphoid	SET2	9.5
Haematopoietic and lymphoid	SIGM5	9.3
Haematopoietic and lymphoid	SKM1	9.2
Haematopoietic and lymphoid	SKMM2	9.7
Haematopoietic and lymphoid	SR786	8.9
Haematopoietic and lymphoid	ST486	8.9
Haematopoietic and lymphoid	SUDHL10	9.5
Haematopoietic and lymphoid	SUDHL1	8.4
Haematopoietic and lymphoid	SUDHL4	9.4
Haematopoietic and lymphoid	SUDHL5	9
Haematopoietic and lymphoid	SUDHL6	9.5
Haematopoietic and lymphoid	SUDHL8	9.7
Haematopoietic and lymphoid	SUPB15	9.5
Haematopoietic and lymphoid	SUPHD1	8.6
Haematopoietic and lymphoid	SUPM2	8.8
Haematopoietic and lymphoid	SUPT11	4.9
Haematopoietic and lymphoid	SUPT1	9.6
Haematopoietic and lymphoid	TALL1	9.6
Haematopoietic and lymphoid	TF1	9.3
Haematopoietic and lymphoid	THP1	8.9
Haematopoietic and lymphoid	TO175T	8.4
Haematopoietic and lymphoid	TOLEDO	9.4
Haematopoietic and lymphoid	U266B1	8.8
Haematopoietic and lymphoid	U937	9.2
Haematopoietic and lymphoid	UT7	9.5
Haematopoietic and lymphoid	WSUDLCL2	9.4
Kidney	769P	7.5
Kidney	786O	8.5
Kidney	A498	7.8
Kidney	A704	6.6
Kidney	ACHN	8.4
Kidney	BFTC909	8.2
Kidney	CAKI1	7.9
Kidney	CAKI2	7.6
Kidney	CAL54	8.6
Kidney	KMRC1	7.3
Kidney	KMRC20	8.1
Kidney	KMRC2	7.1
Kidney	KMRC3	7.7
Kidney	OSRC2	8.1
Kidney	RCC10RGB	7.9
Kidney	SNU1272	8.1
Kidney	SNU349	8.6
Kidney	TUHR10TKB	8.7
Kidney	TUHR14TKB	7.5
Kidney	TUHR4TKB	7.8
Kidney	VMRCRCW	8.3
Kidney	VMRCRCZ	7.5
Large intestine	C2BBE1	8.4
Large intestine	CCK81	8.6
Large intestine	CL11	8.9
Large intestine	CL14	8.2
Large intestine	CL34	8.7
Large intestine	CL40	8.9
Large intestine	COLO205	8.7
Large intestine	COLO320	8.9
Large intestine	COLO678	9.3
Large intestine	CW2	9
Large intestine	DLD1	8.6
Large intestine	GP2D	8.4
Large intestine	HCC56	8.4
Large intestine	HCT116	8.5
Large intestine	HCT15	8.8
Large intestine	HS675T	8
Large intestine	HS698T	8.3
Large intestine	HT115	8.6
Large intestine	HT29	8.9
Large intestine	HT55	9
Large intestine	KM12	8.5
Large intestine	LOVO	8.5
Large intestine	LS1034	8.1
Large intestine	LS123	8.1
Large intestine	LS180	8.1
Large intestine	LS411N	8.1
Large intestine	LS513	8.4
Large intestine	MDST8	8.5
Large intestine	NCIH508	8.1
Large intestine	NCIH716	8.8
Large intestine	NCIH747	8.1
Large intestine	OUMS23	9.2
Large intestine	RCM1	7.8
Large intestine	RKO	7.6
Large intestine	SKCO1	8.5
Large intestine	SNU1040	9.1
Large intestine	SNU1197	8.2
Large intestine	SNU175	9.1
Large intestine	SNU283	8.4
Large intestine	SNU407	9.1
Large intestine	SNU503	8.6
Large intestine	SNU61	8.6
Large intestine	SNU81	9.1
Large intestine	SNUC1	8.8
Large intestine	SNUC2A	8.7
Large intestine	SNUC4	8.5
Large intestine	SNUC5	8.2
Large intestine	SW1116	8
Large intestine	SW1417	8.1
Large intestine	SW1463	8.7
Large intestine	SW403	8.2
Large intestine	SW480	7.2
Large intestine	SW48	7.6
Large intestine	SW620	8.8
Large intestine	SW837	8.6
Large intestine	SW948	8.4
Large intestine	T84	8.6
Liver	ALEXANDERCELLS	8.4
Liver	C3A	8.4
Liver	HEP3B217	8.5
Liver	HEPG2	8.5
Liver	HLE	8.1
Liver	HLF	8.6
Liver	HUH1	7.4
Liver	HUH6	9.3
Liver	HUH7	8
Liver	JHH1	7.9
Liver	JHH2	8.4
Liver	JHH4	8.5
Liver	JHH5	8.4
Liver	JHH6	8.3
Liver	JHH7	8.6
Liver	LI7	8.1
Liver	PLCPRF5	8.5
Liver	SKHEP1	8.8
Liver	SNU182	8.4
Liver	SNU387	8.1
Liver	SNU398	9.1
Liver	SNU423	6.9
Liver	SNU449	8.8
Liver	SNU475	9
Liver	SNU761	8
Liver	SNU878	8
Liver	SNU886	8.8
Lung	A549	8.1
Lung	ABC1	8.3
Lung	BEN	8.5
Lung	CAL12T	8.3
Lung	CALU1	8.6
Lung	CALU3	7.7
Lung	CALU6	8.5
Lung	CHAGOK1	8.2
Lung	COLO668	9.8
Lung	COLO699	8.9
Lung	CORL105	7.7
Lung	CORL23	8.3
Lung	CORL24	8.2
Lung	CORL279	9.7
Lung	CORL311	9.2
Lung	CORL47	9.6
Lung	CORL51	9.5
Lung	CORL88	9.9
Lung	CORL95	9.3
Lung	CPCN	8.7
Lung	DMS114	9.6
Lung	DMS153	9.8
Lung	DMS273	8.7
Lung	DMS454	8.8
Lung	DMS53	8.7
Lung	DMS79	9.3
Lung	DV90	8.8
Lung	EBC1	8.4
Lung	EPLC272H	7.9
Lung	HARA	8.4
Lung	HCC1171	8.6
Lung	HCC1195	8.6
Lung	HCC15	8.4
Lung	HCC2279	7.8
Lung	HCC2935	8.6
Lung	HCC33	9.2
Lung	HCC366	8.4
Lung	HCC4006	8.6
Lung	HCC44	8.1
Lung	HCC78	8.6
Lung	HCC827	8.3
Lung	HCC95	8.2
Lung	HLC1	8.5
Lung	HLFA	7.7
Lung	HS229T	8.2
Lung	HS618T	8.1
Lung	IALM	8.8
Lung	KNS62	8.3
Lung	LC1F	8.4
Lung	LC1SQSF	8.4
Lung	LCLC103H	8.2
Lung	LCLC97TM1	8.9
Lung	LK2	8.9
Lung	LOUNH91	7.9
Lung	LU65	8.2
Lung	LU99	8.2
Lung	LUDLU1	8.3
Lung	LXF289	8.1
Lung	MORCPR	9.1
Lung	NCIH1048	9.7
Lung	NCIH1092	9.8
Lung	NCIH1105	10
Lung	NCIH1155	8.5
Lung	NCIH1184	8.9
Lung	NCIH1299	9.2
Lung	NCIH1339	8.4
Lung	NCIH1341	8.9
Lung	NCIH1355	9.3
Lung	NCIH1373	8.4
Lung	NCIH1385	8.9
Lung	NCIH1395	7.5
Lung	NCIH1435	9.2
Lung	NCIH1436	8.8
Lung	NCIH1437	8.5
Lung	NCIH146	8.6
Lung	NCIH1563	7.2
Lung	NCIH1568	8.5
Lung	NCIH1573	8.8
Lung	NCIH1581	9.4
Lung	NCIH1618	9.4
Lung	NCIH1623	8.5
Lung	NCIH1648	7.6
Lung	NCIH1650	8.9
Lung	NCIH1651	8.3
Lung	NCIH1666	8
Lung	NCIH1693	8.3
Lung	NCIH1694	8.6
Lung	NCIH1703	8.9
Lung	NCIH1734	8.5
Lung	NCIH1755	8.8
Lung	NCIH1781	9.2
Lung	NCIH1792	8.1
Lung	NCIH1793	7.6
Lung	NCIH1836	9.3
Lung	NCIH1838	8.2
Lung	NCIH1869	8.9
Lung	NCIH1876	9.1
Lung	NCIH1915	7.2
Lung	NCIH1930	9.4
Lung	NCIH1944	8
Lung	NCIH1963	9.7
Lung	NCIH196	8.2
Lung	NCIH1975	8.1
Lung	NCIH2009	8.6
Lung	NCIH2023	8.2
Lung	NCIH2029	9
Lung	NCIH2030	8.8
Lung	NCIH2066	9
Lung	NCIH2081	9.1
Lung	NCIH2085	8.5
Lung	NCIH2087	8.6
Lung	NCIH209	8.5
Lung	NCIH2106	9
Lung	NCIH2110	8.4
Lung	NCIH211	9.7
Lung	NCIH2122	8.2
Lung	NCIH2126	8.7
Lung	NCIH2141	10.1
Lung	NCIH2170	8.7
Lung	NCIH2171	9.5
Lung	NCIH2172	8.1
Lung	NCIH2196	9.1
Lung	NCIH2227	9.5
Lung	NCIH2228	8
Lung	NCIH226	8.4
Lung	NCIH2286	8
Lung	NCIH2291	8.6
Lung	NCIH2342	8.9
Lung	NCIH2347	8.3
Lung	NCIH23	9.3
Lung	NCIH2405	7.8
Lung	NCIH2444	8.8
Lung	NCIH292	8.3
Lung	NCIH322	8.6
Lung	NCIH3255	9.1
Lung	NCIH358	9.1
Lung	NCIH441	9.1
Lung	NCIH446	9.1
Lung	NCIH460	8.3
Lung	NCIH510	9
Lung	NCIH520	8.5
Lung	NCIH522	9.5
Lung	NCIH524	8.6
Lung	NCIH526	9.8
Lung	NCIH596	8.6
Lung	NCIH647	8.4
Lung	NCIH650	8.7
Lung	NCIH661	8.6
Lung	NCIH69	8.6
Lung	NCIH727	8.6
Lung	NCIH810	9.7
Lung	NCIH82	9.3
Lung	NCIH838	8
Lung	NCIH841	9.8
Lung	NCIH854	9.3
Lung	NCIH889	8.9
Lung	PC14	8.2
Lung	RERFLCAD1	8.4
Lung	RERFLCAD2	8
Lung	RERFLCAI	8.4
Lung	RERFLCKJ	8.4
Lung	RERFLCMS	8.2
Lung	RERFLCSQ1	7.2
Lung	SBC5	9.1
Lung	SCLC21H	9.2
Lung	SHP77	8.9
Lung	SKLU1	7.1
Lung	SKMES1	8.2
Lung	SQ1	9
Lung	SW1271	9.1
Lung	SW1573	8.9
Lung	SW900	8.5
Lung	VMRCLCD	8.1
Lung	VMRCLCP	8.5
Oesophagus	COLO680N	8.4
Oesophagus	ECGI10	7.9
Oesophagus	KYSE140	9
Oesophagus	KYSE150	8.4
Oesophagus	KYSE180	8.6
Oesophagus	KYSE270	8.9
Oesophagus	KYSE30	8.9
Oesophagus	KYSE410	8.8
Oesophagus	KYSE450	8.2
Oesophagus	KYSE510	8.9
Oesophagus	KYSE520	8.5
Oesophagus	KYSE70	8.4
Oesophagus	OE19	9.3
Oesophagus	OE33	7.2
Oesophagus	TE10	9.3
Oesophagus	TE11	8.6
Oesophagus	TE14	8.7
Oesophagus	TE15	8.3
Oesophagus	TE1	7.9
Oesophagus	TE4	9
Oesophagus	TE5	8.9
Oesophagus	TE6	8.7
Oesophagus	TE8	8.4
Oesophagus	TE9	8.8
Oesophagus	TT	8.5
Ovary	59M	8.7
Ovary	A2780	8.8
Ovary	CAOV3	7.8
Ovary	CAOV4	8.6
Ovary	COLO704	9.3
Ovary	COV318	9.6
Ovary	COV362	7.9
Ovary	COV434	9.9
Ovary	COV504	8.1
Ovary	COV644	8.4
Ovary	EFO21	8.7
Ovary	EFO27	8
Ovary	ES2	7.8
Ovary	FUOV1	8.6
Ovary	HEYA8	7.3
Ovary	HS571T	7.8
Ovary	IGROV1	8.8
Ovary	JHOC5	8.1
Ovary	JHOM1	8.3
Ovary	JHOM2B	8.9
Ovary	JHOS2	8.1
Ovary	JHOS4	8.4
Ovary	KURAMOCHI	10
Ovary	MCAS	8
Ovary	NIHOVCAR3	8.7
Ovary	OAW28	8.8
Ovary	OAW42	6.7
Ovary	OC314	8.2
Ovary	OC316	8.1
Ovary	ONCODG1	8.8
Ovary	OV56	7.8
Ovary	OV7	8.8
Ovary	OV90	8.9
Ovary	OVCAR4	8.6
Ovary	OVCAR8	8.5
Ovary	OVISE	6.5
Ovary	OVK18	7.8
Ovary	OVKATE	8.7
Ovary	OVMANA	7.6
Ovary	OVSAHO	7.5
Ovary	OVTOKO	6.9
Ovary	RMGI	7.7
Ovary	RMUGS	7.5
Ovary	SKOV3	8.2
Ovary	SNU119	9
Ovary	SNU840	8.3
Ovary	SNU8	8.8
Ovary	TOV112D	9.6
Ovary	TOV21G	7.1
Ovary	TYKNU	8.1
Pancreas	ASPC1	7.6
Pancreas	BXPC3	8.5
Pancreas	CAPAN1	8.5
Pancreas	CAPAN2	8.9
Pancreas	CFPAC1	8.1
Pancreas	DANG	8.1
Pancreas	HPAC	8.8
Pancreas	HPAFII	7.6
Pancreas	HS766T	7.3
Pancreas	HUPT3	8.5
Pancreas	HUPT4	8.9
Pancreas	KCIMOH1	8
Pancreas	KLM1	8.9
Pancreas	KP2	8.3
Pancreas	KP3	8.2
Pancreas	KP4	9.1
Pancreas	L33	8.7
Pancreas	MIAPACA2	7.8
Pancreas	PANC0203	8.6
Pancreas	PANC0213	8
Pancreas	PANC0327	7.9
Pancreas	PANC0403	7.4
Pancreas	PANC0504	8.3
Pancreas	PANC0813	8.5
Pancreas	PANC1005	8.3
Pancreas	PANC1	9.1
Pancreas	PATU8902	6.5
Pancreas	PATU8988S	8.2
Pancreas	PATU8988T	8.8
Pancreas	PK1	8
Pancreas	PK45H	8.3
Pancreas	PK59	8.4
Pancreas	PL45	8
Pancreas	PSN1	8.4
Pancreas	QGP1	8.1
Pancreas	SNU213	8.7
Pancreas	SNU324	9.2
Pancreas	SNU410	8.4
Pancreas	SU8686	8.7
Pancreas	SUIT2	7.4
Pancreas	SW1990	7.7
Pancreas	T3M4	8.6
Pancreas	TCCPAN2	8.2
Pancreas	YAPC	8.7
Pleura	ACCMESO1	7.7
Pleura	DM3	8.3
Pleura	ISTMES1	8.8
Pleura	ISTMES2	8.4
Pleura	JL1	8.9
Pleura	MPP89	8
Pleura	MSTO211H	8.1
Pleura	NCIH2052	8.5
Pleura	NCIH2452	8.6
Pleura	NCIH28	7.7
Prostate	22RV1	9.4
Prostate	DU145	7.8
Prostate	LNCAPCLONEFGC	8.3
Prostate	MDAPCA2B	8.7
Prostate	NCIH660	9.6
Prostate	PC3	8.4
Prostate	VCAP	9.3
Salivary gland	A253	8.2
Salivary gland	YD15	8.2
Skin	A101D	8.2
Skin	A2058	8.9
Skin	A375	8.8
Skin	C32	8.1
Skin	CHL1	8.9
Skin	CJM	8.4
Skin	COLO679	8.4
Skin	COLO741	8.3
Skin	COLO783	8.4
Skin	COLO792	8.5
Skin	COLO800	8.6
Skin	COLO818	8.2
Skin	COLO829	8.3
Skin	COLO849	8.6
Skin	G361	8.3
Skin	GRM	8.8
Skin	HMCB	9.1
Skin	HS294T	8.1
Skin	HS600T	7.9
Skin	HS688AT	7.7
Skin	HS695T	8.3
Skin	HS839T	8.1
Skin	HS852T	8.7
Skin	HS895T	7.5
Skin	HS934T	8.3
Skin	HS936T	8.1
Skin	HS939T	8.2
Skin	HS940T	8.1
Skin	HS944T	8.7
Skin	HT144	8.5
Skin	IGR1	8.3
Skin	IGR37	8.6
Skin	IGR39	8.5
Skin	IPC298	8.1
Skin	K029AX	8.1
Skin	LOXIMVI	8.5
Skin	MALME3M	7.8
Skin	MDAMB435S	7.5
Skin	MELHO	8.4
Skin	MELJUSO	7.9
Skin	MEWO	8.5
Skin	RPMI7951	8
Skin	RVH421	7.2
Skin	SH4	7.9
Skin	SKMEL1	8
Skin	SKMEL24	8.6
Skin	SKMEL28	8.1
Skin	SKMEL2	8.1
Skin	SKMEL30	8.5
Skin	SKMEL31	8.1
Skin	SKMEL3	7.7
Skin	SKMEL5	8.4
Skin	UACC257	8.5
Skin	UACC62	8.4
Skin	WM115	8.6
Skin	WM1799	8.1
Skin	WM2664	8.6
Skin	WM793	8.6
Skin	WM88	8.1
Skin	WM983B	8.1
Small intestine	HUTU80	9.4
Soft tissue	A204	9
Soft tissue	G401	9.2
Soft tissue	G402	8.9
Soft tissue	GCT	8.7
Soft tissue	HS729	8.6
Soft tissue	HT1080	8.4
Soft tissue	KYM1	9.3
Soft tissue	MESSA	8.6
Soft tissue	RD	8.9
Soft tissue	RH30	9.6
Soft tissue	RH41	10
Soft tissue	RKN	8.5
Soft tissue	S117	8.9
Soft tissue	SJRH30	9.6
Soft tissue	SKLMS1	8.6
Soft tissue	SKUT1	8.1
Soft tissue	TE125T	7.6
Soft tissue	TE159T	8.5
Soft tissue	TE441T	8.4
Soft tissue	TE617T	9.5
Stomach	2313287	8.5
Stomach	AGS	8.6
Stomach	AZ521	9.4
Stomach	ECC10	9
Stomach	ECC12	9.8
Stomach	FU97	7.1
Stomach	GCIY	8.7
Stomach	GSS	8
Stomach	GSU	8.6
Stomach	HGC27	8.4
Stomach	HS746T	7.8
Stomach	HUG1N	8.5
Stomach	IM95	9
Stomach	KATOIII	7.4
Stomach	KE39	8.7
Stomach	LMSU	8.8
Stomach	MKN1	8.5
Stomach	MKN45	6.9
Stomach	MKN74	8.7
Stomach	MKN7	7.8
Stomach	NCCSTCK140	9.2
Stomach	NCIN87	8.1
Stomach	NUGC2	8.3
Stomach	NUGC3	8
Stomach	NUGC4	8.4
Stomach	OCUM1	7.5
Stomach	RERFGC1B	8.5
Stomach	SH10TC	8.1
Stomach	SNU16	8.6
Stomach	SNU1	8.9
Stomach	SNU216	8.4
Stomach	SNU520	9
Stomach	SNU5	4.9
Stomach	SNU601	9.1
Stomach	SNU620	8.4
Stomach	SNU668	8.9
Stomach	SNU719	9.3
Stomach	TGBC11TKB	8.5
Thyroid	8305C	8.7
Thyroid	8505C	8.5
Thyroid	BCPAP	9.2
Thyroid	BHT101	8.6
Thyroid	CAL62	8.2
Thyroid	CGTHW1	8.2
Thyroid	FTC133	8.5
Thyroid	FTC238	8.2
Thyroid	ML1	8.6
Thyroid	SW579	8.7
Thyroid	TT2609C02	8.1
Thyroid	TT	8.9
Upper aerodigestive tract	BHY	8.2
Upper aerodigestive tract	BICR16	8.1
Upper aerodigestive tract	BICR18	8.4
Upper aerodigestive tract	BICR22	8.4
Upper aerodigestive tract	BICR31	8.2
Upper aerodigestive tract	BICR56	8.9
Upper aerodigestive tract	BICR6	8.6
Upper aerodigestive tract	CAL27	8.5
Upper aerodigestive tract	CAL33	9.4
Upper aerodigestive tract	DETROIT562	7.7
Upper aerodigestive tract	FADU	8.5
Upper aerodigestive tract	HS840T	8.1
Upper aerodigestive tract	HSC2	7.9
Upper aerodigestive tract	HSC3	7.7
Upper aerodigestive tract	HSC4	8
Upper aerodigestive tract	PECAPJ15	8.3
Upper aerodigestive tract	PECAPJ34CLONEC12	8.6
Upper aerodigestive tract	PECAPJ41CLONED2	7.9
Upper aerodigestive tract	PECAPJ49	8.4
Upper aerodigestive tract	SCC15	8.5
Upper aerodigestive tract	SCC25	8.3
Upper aerodigestive tract	SCC4	8.5
Upper aerodigestive tract	SCC9	8.6
Upper aerodigestive tract	SNU1076	8.3
Upper aerodigestive tract	SNU1214	8.5
Upper aerodigestive tract	SNU46	8.3
Upper aerodigestive tract	SNU899	8.4
Upper aerodigestive tract	YD10B	8.3
Upper aerodigestive tract	YD38	8.8
Upper aerodigestive tract	YD8	7.9
Urinary tract	5637	8.6
Urinary tract	639V	8.7
Urinary tract	647V	8.8
Urinary tract	BC3C	7.9
Urinary tract	BFTC905	8.3
Urinary tract	CAL29	8.7
Urinary tract	HS172T	7.9
Urinary tract	HT1197	8.9
Urinary tract	HT1376	7.4
Urinary tract	J82	8.4
Urinary tract	JMSU1	8.2
Urinary tract	KMBC2	8.4
Urinary tract	KU1919	8.1
Urinary tract	RT11284	8.9
Urinary tract	RT112	9
Urinary tract	RT4	7.9
Urinary tract	SCABER	8
Urinary tract	SW1710	8.8
Urinary tract	SW780	9
Urinary tract	T24	8.7
Urinary tract	TCCSUP	8.6
Urinary tract	UMUC1	8.8
Urinary tract	UMUC3	8.7
Urinary tract	VMCUB1	8.4

> The Human Protein Atlas (HPA)

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Tissue	Expression Level (TPM)
Adipose tissue	15.2
Adrenal gland	13.9
Appendix	31.3
Bone marrow	24.3
Breast	15.1
Cerebral cortex	22.8
Cervix, uterine	24.6
Colon	15
Duodenum	15.7
Endometrium	27.8
Epididymis	16
Esophagus	19
Fallopian tube	32.4
Gallbladder	22.5
Heart muscle	9.9
Kidney	11.7
Liver	6.2
Lung	23.5
Lymph node	29.8
Ovary	28
Pancreas	4.7
Parathyroid gland	40.4
Placenta	28
Prostate	22.2
Rectum	16.4
Salivary gland	7.7
Seminal vesicle	21.3
Skeletal muscle	6.4
Skin	24.2
Small intestine	16.8
Smooth muscle	25.5
Spleen	34.4
Stomach	16.3
Testis	31.5
Thyroid gland	36.7
Tonsil	22.1
Urinary bladder	20.5

> Text Mining based Expression

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PMID	Expression	Cancer	Evidence
22915242	Loss of expression	Gastric Carcinoma	Taken together, loss of ARID1A may be an early change in carcinogenesis and may precede EBV infection in gastric epithelial cells, while loss of ARID1A promotes cancer progression in gastric cancer cells without EBV infection or loss of MLH1 expression.
22808142	Loss of expression	Gastric Carcinoma	Consistent with these results, we found that loss of ARID1A expression was significantly correlated with poor survival in gastric cancer patients (P = 0.003). Silencing ARID1A expression in gastric epithelial cell line significantly enhanced cell growth rate.
22653341	Mutation (loss of function); Loss of expression	Endometrioid Carcinoma; Clear Cell Carcinoma	The loss of expression of ARID1A and the presence of inactivating mutations of the ARID1A gene further link this tumor to endometrioid and clear cell tumors, as does the frequent association with endometriosis.
22530740	altered expression	Ovarian Endometriosis	Aberrant expression of ARID1A, PIK3CA, and NF-kB genes has been recognized as the major target genes involved in oxidative stress-induced carcinogenesis.
22274316	Loss of expression	Cervical Adenocarcinoma; Cervical Adenosquamous Carcinoma	In conclusion, this study provides the first evidence of the frequent loss of ARID1A protein expression in cervical adenocarcinomas/adenosquamous carcinomas.
22157930	Loss of expression	Ovarian Clear Cell Tumor	Loss of ARID1A protein expression occurs as an early event in ovarian clear-cell carcinoma development and frequently coexists with PIK3CA mutations.
22120431	Mutation; Loss of expression	Ovarian Clear Cell Adenocarcinoma	PIK3CA mutations and loss of ARID1A protein expression are early events in the development of cystic ovarian clear cell adenocarcinoma.; Somatic mutations of PIK3CA and ARID1A are the most common genetic alterations observed in ovarian clear cell adenocarcinomas (CCA).
22101352	Loss of expression	Ovarian Clear Cell Tumor	Loss of ARID1A expression was identified in 9 (15.0%) of 60 ovarian clear cell carcinoma samples.
21889920	Underexpression	Ductal Breast Carcinoma	These data suggest that low ARID1A expression is frequent in breast cancers, and we need to investigate further the role of ARID1A and SWI/SNF complexes in breast tumorigenesis, especially in triple-negative breast cancer.
21412932	Loss of expression (copy number loss)	Pancreatic Adenocarcinoma	Using both visual inspection and GISTIC analysis, recurrent losses were observed on 1p, 3p, 4p, 6, 8p, 9, 10, 11q, 15q, 17, 18, 19p, 20p, 21, and 22 and comprised several known or suspected tumor suppressor genes such as ARHGEF10, ARID1A, CDKN2A/B, FHIT, PTEN, RB1, RUNX1-3, SMAD4, STK11/LKB1, TP53, and TUSC3.; Heterozygous deletion of the 1p35-p36 chromosomal region was identified in one-third of the tumors and three of the cell lines. This region, commonly deleted in human cancers, contains several tumor suppressor genes including ARID1A and RUNX3.
21412130	Mutation; Loss of expression	Low-grade Endometrioid Carcinoma of Endometrium	In conclusion, this study is the first large-scale analysis of a wide variety of carcinomas showing that uterine low-grade endometrioid carcinoma is the predominant tumor type harboring ARID1A mutations and frequent loss of ARID1A expression.
21614196	loss of expression (mutation)	Ovarian Clear Cell Tumor	Recent genome-wide analysis has demonstrated that somatic mutations in ARID1A (BAF250) are the most common molecular genetic changes in ovarian clear cell carcinoma (OCCC).; In conclusion, this study provides further evidence that mutations in ARID1A resulted in loss of ARID1A protein expression in OCCC, although no significant differences between ARID1A positive and negative cases were observed with respect to any clinicopathological features examined.
19066270	Loss of expression	Acute Lymphoblastic Leukemia	Statistically significant associations between decreased expression in ALL cells of genes for core subunits of the SWI/SNF complex-SMARCA4, ARID1A, and SMARCB1-and resistance to prednisolone and dexamethasone were identified in the training cohort.; In the validation cohort, expression of SMARCA4 (P < .001 and r = -0.43), ARID1A (P = .016 and r = -0.29), and SMARCB1 (P = .019 and r = -0.29) in ALL cells was statistically significantly associated with dexamethasone sensitivity, and SMARCA4 expression (P = .018 and r = -0.28) was statistically significantly associated with prednisolone sensitivity. Decreased expression of as many as three subunits of the SWI/SNF complex appears to be associated with glucocorticoid resistance in primary ALL cells.
15382044	Loss of expression	Breast Carcinoma; Kidney Carcinoma	Expression of p270 (ARID1A), a component of human SWI/SNF complexes, in human tumors.; Deficiency of p270 was observed most frequently in carcinomas of the breast and kidney.
28543794	Loss of Expression	Invasive Micropapillary Breast Carcinoma	The loss of ARID1A expression and Her-2 positivity have significant adverse effect clinical outcomes of IMPC patients.
28498284	Loss of Expression	Endometrial Carcinoma	Loss of ARID1A expression was observed in 9 of 19 cases (47%), loss of expression of at least 1 DNA mismatch repair protein in 7 (7/21; 33%), and p53 immunoreaction was aberrant (mutated/inactivated) in 11 cases (11/21; 52%).
28440661	Loss of Expression	Esophageal Adenocarcinoma	Loss of ARID1A expression was seen in 12 of 120 EACs (10%).
28401006	Mutation; Loss of Expression; Underexpression	Ampulla of Vater Adenocarcinoma	In the ampullary adenocarcinomas, the frequency of KRAS and ARID1A mutations was 34.7% and 8.2% respectively, with a loss or reduction of ARID1A protein in 17.2% of the cases.
28297679	Underexpression (hypermethylation)	Cholangiocarcinoma	Leveraging the multi-platform data, we observed that ARID1A exhibited DNA hypermethylation and decreased expression in the IDH mutant subtype.
28123592	Underexpression	Breast Carcinoma	In this study, we first evaluated ARID1A expression by immunohistochemistry in invasive breast cancer tissue specimens and assessed the correlation with the prognosis of patients with breast cancer. Interestingly, partial loss of ARID1A expression, score 2 to 3, was significantly correlated with poor disease free survival of the patients.
28031120	Underexpression	Gastric Carcinoma	Both cytoplasmic and nuclear ARID1A expressions significantly decreased in gastric cancer tissues compared with adjacent noncancerous tissues.
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.
27562491	loss of expression (mutation)	Endometrial Carcinoma	All ARID1A and ARID1B co-mutated tumours displayed loss of ARID1A expression in the undifferentiated component with 11 of 12 tumours also displaying absent staining in the endometrioid component.
24905724	loss of expression (mutation)	Ovarian Endometrioid Adenocarcinoma	The loss of BAF250a protein expression is suggestive for the presence of ARID1A mutations, and represents an useful marker of malignant transformation of endometriosis.
25175170	Overexpression	Urothelial Carcinoma	ARID1A expression significantly increased from normal to noninvasive UC to invasive UC.
25311944	loss of expression	Colorectal Carcinoma	ARID1A loss was observed in 9% (22/257) of the cohort: 24% of MMR-deficient tumors (14/59, 13 of the 14 being MLH1/PMS2 deficient) and 4% of MMR-normal tumors (8/198) (P < .05).
25398420	altered expression	Borderline Ovarian Clear Cell Adenofibroma with Intraepithelial Carcinoma	In pure-type CCAs, expressions of ARID1A and p53 were mutually altered, and altered expression of p53 was associated with worse prognosis than that of ARID1A (P < 0.001).
25400081	loss of expression	Small Intestinal Carcinoma	Loss of ARID1A expression is associated with poor prognosis in small intestinal carcinoma.
25557364	loss of expression (mutation)	Endometrial Carcinoma	Approximately 30% to 40% of endometrial carcinomas harbor mutations in the ARID1A gene, which results in complete loss of ARID1A protein expression.
25561809	loss of expression	Colorectal Carcinoma	ARID1A loss by immunohistochemistry was not rare in primary colorectal cancer tumors (25.8%).
25628030	Underexpression	Clear Cell Renal Cell Carcinoma	Decreased ARID1A expression was associated with the higher nuclear grade and higher pTNM stage (P < .001 and P = .013, respectively).
25648330	loss of expression	Ovarian Endometrioid Adenocarcinoma	The frequencies of ARID1A loss, PTEN loss, MMR deficiency or MSI and aberrant p53 expression were 58%, 37%, 37% and 47% in pure HG tumours, and 77%, 45%, 55% and 32% in HG tumours with concurrent LG components (P = 0.07 for ARID1A; P > 0.1 for other proteins).
25717252	Underexpression	Gastric Adenocarcinoma	Abnormal ARID1A expression, including reduced or loss of ARID1A expression, was observed in 109 cases (22.3%) and was significantly correlated with lymphatic invasion (80.7% vs 69.5%, P=0.022) and lymph node metastasis (83.5% vs 73.7%, P=0.042).
25744580	loss of expression	Borderline Ovarian Clear Cell Adenofibroma with Intraepithelial Carcinoma	The loss of ARID1A expression was found in 39 % (44/112) of CCC, and was not associated with patient age, FIGO stage, and status of residual tumor.
25757668	Underexpression	Esophageal Squamous Cell Carcinoma	Thus, decreased ARID1A immunoreactivity correlated with infiltrative growth of ESCC.
25776029	Underexpression	Squamous Cell Carcinoma of the Penis	ARID1A expression was observed in all cases, ranging from 3% to 100% of tumor cells (median, 95%).
25871622	loss of expression	Ovarian Endometrioid Adenocarcinoma	Thirteen of 64 (20%) CCCs, 6/34 (18%) EC-CCs, and 2/34 (6%) ECs showed loss of BAF250a.
25912412	loss of expression	Borderline Ovarian Clear Cell Adenofibroma with Intraepithelial Carcinoma	Loss of BAF250a expression was seen in 13 (22%) of 59 endometrioid cancers, 17 (47%) of 36 clear cell cases, 8 (44%) of 18 contiguous endometriosis cases, and 3 (8%) of 66 benign endometriotic ovarian cysts.
25963524	Underexpression	Meningioma	Notably, in the higher grade regions we found increased aneuploidy with progressive loss of heterozygosity, the emergence of mutations in the TERT promoter, and compromise of ARID1A.
25975202	Underexpression	Hepatocellular Carcinoma	ARID1A mRNA and protein expression were significantly decreased in HCC tissues, and decreased expression was significantly associated with overall metastasis, including local lymph node and distant metastasis, and poor prognosis.
26045782	Underexpression	Hepatocellular Carcinoma	In the evaluation of tissue microarrays, cases of ARID1A alteration (63 total cases, 21.7%) consisted of 11 (3.8%) cases showing loss of expression and 52 (17.9%) with weak expression.
26067140	loss of expression	Gastric Carcinoma	Loss of ARID1A expression was observed in 21.1% of GC (88/417), but was not observed in gastric adenoma tissues or non-neoplastic gastric mucosa tissues.
26303865	Underexpression	Cervical Adenosquamous Carcinoma	Lower levels of the ARID1A expression were detected in cases with adenosquamous carcinomas (60%), low- or high-grade squamous intraepithelial lesion (SIL) (31%), and squamous cell carcinomas (18.5%).
26345631	loss of expression	Non-Small Cell Lung Carcinoma	The loss of the expression of ARID1A, ARID1B, and BAF47 was observed only in a fraction of NSCLC cases.
26400522	Underexpression	Gastric Carcinoma	ARID1A was down-regulated in gastric cancer, and associated poor patient prognosis.
26468418	loss of expression	Gastric Carcinoma	Loss of ARID1A expression was observed in 62 cases (32.5%).
26637902	Underexpression	Gastric Carcinoma	Low expression rates of ARID1A, 1B, and 2 in gastric carcinoma were 20%, 10%, and 15% respectively.
26770240	Underexpression	Breast Carcinoma	Low expression of ARID1A is an independent prognostic factor for disease-free and overall survival in breast cancer patients and may be associated with luminal A type disease.
26904685	Underexpression	Breast Carcinoma	Inactivated mutations and decreased expression of ARID1A gene have been reported in several kinds of cancer.
26945423	loss of expression	Borderline Ovarian Clear Cell Adenofibroma with Intraepithelial Carcinoma	HNF-1β was expressed in 92.8% of all primary ovarian tumors, while the loss of ARID1A and PIK3CA was noted in 56.2% and 45.0%, respectively.
27528032	Underexpression	Head and Neck Squamous Cell Carcinoma	HNSCC patients with tumors having high level of miR-31 expression and high levels of Nanog/OCT4/Sox2/EpCAM expression, together with low level of ARID1A expression, were found to have the worst survival.
27572311	Underexpression (hypoacetylation)	Malignant Germ Cell Tumor	We found that hypoacetylation at the ARID1A promotor caused repression of the SWI/SNF-complex member ARID1A.
27699033	Underexpression	Clear Cell Adenocarcinoma	BAF250a-deficient expression was observed in 30% (29/97) of all CCA cases.
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.

Summary
Symbol	ARID1A
Name	AT-rich interaction domain 1A
Aliases	B120; C10rf4; BAF250; BAF250a; C1orf4; SMARCF1; SWI/SNF related, matrix associated, actin dependent regulato ......
Location	1p36.11
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)

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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	0.409	9.13e-18	23	60.1	16.8	Neutral
BRCA	Breast invasive carcinoma	1075	0.351	1.48e-32	41.8	52.4	5.9	Loss
CESC	Cervical and endocervical cancers	292	0.54	1.53e-23	11.6	61.6	26.7	Neutral
COAD	Colon adenocarcinoma	449	0.437	2.54e-22	37.2	61.5	1.3	Loss
ESCA	Esophageal carcinoma	183	0.531	1.03e-14	40.4	49.2	10.4	Loss
GBM	Glioblastoma multiforme	147	0.149	0.0708	8.2	74.1	17.7	Neutral
HNSC	Head and Neck squamous cell carcinoma	514	0.297	6.06e-12	18.3	71.6	10.1	Neutral
KIRC	Kidney renal clear cell carcinoma	525	0.311	3.34e-13	19	79.4	1.5	Neutral
KIRP	Kidney renal papillary cell carcinoma	288	0.247	2.24e-05	17.7	81.9	0.3	Neutral
LAML	Acute Myeloid Leukemia	166	0.104	0.184	0.6	97	2.4	Neutral
LGG	Brain Lower Grade Glioma	513	0.653	1.29e-63	37.8	59.6	2.5	Loss
LIHC	Liver hepatocellular carcinoma	364	0.349	7.55e-12	39.3	55.5	5.2	Loss
LUAD	Lung adenocarcinoma	512	0.278	1.63e-10	25.2	53.3	21.5	Neutral
LUSC	Lung squamous cell carcinoma	498	0.418	1.82e-22	45.6	45	9.4	Loss
OV	Ovarian serous cystadenocarcinoma	300	0.595	4.14e-30	43	37	20	Loss
PAAD	Pancreatic adenocarcinoma	177	0.443	6.94e-10	36.2	61	2.8	Loss
PCPG	Pheochromocytoma and Paraganglioma	162	0.56	9.08e-15	62.3	36.4	1.2	Loss
PRAD	Prostate adenocarcinoma	491	0.215	1.56e-06	8.1	90.2	1.6	Neutral
READ	Rectum adenocarcinoma	164	0.357	2.73e-06	45.7	52.4	1.8	Loss
SARC	Sarcoma	255	0.248	6.06e-05	14.5	54.5	31	Neutral
SKCM	Skin Cutaneous Melanoma	367	0.394	4.39e-15	17.2	61.3	21.5	Neutral
STAD	Stomach adenocarcinoma	413	0.43	4.91e-20	31.5	62.7	5.8	Neutral
TGCT	Testicular Germ Cell Tumors	150	-0.077	0.349	17.3	64.7	18	Neutral
THCA	Thyroid carcinoma	497	0.139	0.00197	0.8	98.8	0.4	Neutral
THYM	Thymoma	119	0.22	0.016	6.7	92.4	0.8	Neutral
UCEC	Uterine Corpus Endometrial Carcinoma	537	0.296	2.35e-12	15.8	77.3	6.9	Neutral

Summary
Symbol	ARID1A
Name	AT-rich interaction domain 1A
Aliases	B120; C10rf4; BAF250; BAF250a; C1orf4; SMARCF1; SWI/SNF related, matrix associated, actin dependent regulato ......
Location	1p36.11
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

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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	-0.111	0.0223	17	408	0.005	0.0157	NS/NA
BRCA	Breast invasive carcinoma	-0.161	1.83e-06	83	785	0.001	1.51e-09	NS/NA
CESC	Cervical and endocervical cancers	-0.18	0.00154	3	306	NA	NA	NS/NA
COAD	Colon adenocarcinoma	-0.25	7.62e-06	19	297	0.003	0.00573	NS/NA
ESCA	Esophageal carcinoma	-0.268	0.000169	9	185	NA	NA	NS/NA
GBM	Glioblastoma multiforme	-0.242	0.0526	1	64	NA	NA	NS/NA
HNSC	Head and Neck squamous cell carcinoma	-0.168	9.04e-05	20	522	0.002	5.13e-05	NS/NA
KIRC	Kidney renal clear cell carcinoma	-0.161	0.00289	24	319	0.007	0.00385	NS/NA
KIRP	Kidney renal papillary cell carcinoma	-0.237	3.82e-05	23	275	0.001	0.0532	NS/NA
LAML	Acute Myeloid Leukemia	-0.156	0.0423	0	170	NA	NA	NS/NA
LGG	Brain Lower Grade Glioma	-0.4	0	0	530	NA	NA	NS/NA
LIHC	Liver hepatocellular carcinoma	-0.22	6.53e-06	41	373	0.004	2.52e-07	NS/NA
LUAD	Lung adenocarcinoma	-0.057	0.217	21	456	-0.005	0.107	NS/NA
LUSC	Lung squamous cell carcinoma	-0.275	6.58e-08	8	370	NA	NA	NS/NA
OV	Ovarian serous cystadenocarcinoma	-0.95	0.000353	0	9	NA	NA	NS/NA
PAAD	Pancreatic adenocarcinoma	-0.28	0.000129	4	179	NA	NA	NS/NA
PCPG	Pheochromocytoma and Paraganglioma	-0.439	5.03e-10	3	184	NA	NA	NS/NA
PRAD	Prostate adenocarcinoma	-0.179	3.37e-05	35	498	-0.004	0.0254	NS/NA
READ	Rectum adenocarcinoma	-0.294	0.00294	2	99	NA	NA	NS/NA
SARC	Sarcoma	-0.268	1.16e-05	0	263	NA	NA	NS/NA
SKCM	Skin Cutaneous Melanoma	-0.178	0.000107	1	471	NA	NA	NS/NA
STAD	Stomach adenocarcinoma	-0.283	3.31e-08	0	372	NA	NA	NS/NA
TGCT	Testicular Germ Cell Tumors	-0.211	0.00845	0	156	NA	NA	NS/NA
THCA	Thyroid carcinoma	-0.052	0.223	50	509	-0.001	0.3	NS/NA
THYM	Thymoma	-0.233	0.00989	2	120	NA	NA	NS/NA
UCEC	Uterine Corpus Endometrial Carcinoma	-0.166	0.000321	34	431	0.002	0.00457	NS/NA

Summary
Symbol	ARID1A
Name	AT-rich interaction domain 1A
Aliases	B120; C10rf4; BAF250; BAF250a; C1orf4; SMARCF1; SWI/SNF related, matrix associated, actin dependent regulato ......
Location	1p36.11
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 ]

Cancer	Full Name	# Sample	Median (abundance)	MAD (abundance)
BRCA	Breast invasive carcinoma	892	-0.02	0.155
COAD	Colon adenocarcinoma	362	0.01	0.154
GBM	Glioblastoma multiforme	244	-0.061	0.127
HNSC	Head and Neck squamous cell carcinoma	212	0.769	0.124
KIRC	Kidney renal clear cell carcinoma	478	-0.014	0.082
LIHC	Liver hepatocellular carcinoma	184	-0.063	0.281
OV	Ovarian serous cystadenocarcinoma	436	-0.043	0.195
READ	Rectum adenocarcinoma	131	-0.056	0.161
THCA	Thyroid carcinoma	224	0.03	0.103
UCEC	Uterine Corpus Endometrial Carcinoma	440	0.043	0.202

> The Human Protein Atlas (HPA)

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Tissue	Level	Level Name
Adrenal gland	2	Medium
Appendix	2	Medium
Bone marrow	3	High
Breast	2	Medium
Bronchus	3	High
Caudate	3	High
Cerebellum	3	High
Cerebral cortex	3	High
Cervix, uterine	3	High
Colon	2	Medium
Duodenum	2	Medium
Endometrium	3	High
Epididymis	2	Medium
Esophagus	2	Medium
Fallopian tube	2	Medium
Gallbladder	2	Medium
Heart muscle	2	Medium
Hippocampus	2	Medium
Kidney	2	Medium
Liver	0	Not detected
Lung	2	Medium
Lymph node	3	High
Nasopharynx	3	High
Oral mucosa	2	Medium
Ovary	1	Low
Pancreas	2	Medium
Parathyroid gland	1	Low
Placenta	3	High
Prostate	2	Medium
Rectum	2	Medium
Salivary gland	2	Medium
Seminal vesicle	2	Medium
Skeletal muscle	2	Medium
Skin	3	High
Small intestine	2	Medium
Smooth muscle	1	Low
Soft tissue	0	Not detected
Spleen	2	Medium
Stomach	2	Medium
Testis	2	Medium
Thyroid gland	0	Not detected
Tonsil	3	High
Urinary bladder	3	High
Vagina	2	Medium

Summary
Symbol	ARID1A
Name	AT-rich interaction domain 1A
Aliases	B120; C10rf4; BAF250; BAF250a; C1orf4; SMARCF1; SWI/SNF related, matrix associated, actin dependent regulato ......
Location	1p36.11
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

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Association between expresson and subtype.

Cancer	Full Name	# Patients	P Value (Kruskal-Wallis)	Association	Source
BLCA	Bladder urothelial carcinoma	128	0.472	NS	24476821
BRCA	Breast invasive carcinoma	521	4.44e-06	Significant	23000897
COAD	Colon adenocarcinoma	149	0.292	NS	22810696
GBM	Glioblastoma multiforme	157	0.000173	Significant	26824661
HNSC	Head and Neck squamous cell carcinoma	279	8.26e-08	Significant	25631445
KIRP	Kidney renal papillary cell carcinoma	161	0.238	NS	26536169
LGG	Brain Lower Grade Glioma	513	9.13e-53	Significant	26824661
LUAD	Lung adenocarcinoma	230	0.144	NS	25079552
LUSC	Lung squamous cell carcinoma	178	0.0132	Significant	22960745
OV	Ovarian serous cystadenocarcinoma	287	0.00668	Significant	21720365
PRAD	Prostate adenocarcinoma	333	0.108	NS	26544944
READ	Rectum adenocarcinoma	67	0.403	NS	22810696
SKCM	Skin Cutaneous Melanoma	315	0.00047	Significant	26091043
STAD	Stomach adenocarcinoma	277	0.0157	Significant	25079317
THCA	Thyroid carcinoma	391	0.000421	Significant	25417114
UCEC	Uterine Corpus Endometrial Carcinoma	232	0.279	NS	23636398

> Overall survival

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Overall survival analysis based on expression.

Cancer	Full Name	# Patients	Hazard Ratio	P Value (Log Rank Test)	Association
BLCA	Bladder urothelial carcinoma	405	0.808	0.31	NS
BRCA	Breast invasive carcinoma	1079	1.082	0.731	NS
CESC	Cervical and endocervical cancers	291	1.386	0.34	NS
COAD	Colon adenocarcinoma	439	0.898	0.728	NS
ESCA	Esophageal carcinoma	184	0.966	0.909	NS
GBM	Glioblastoma multiforme	158	1.066	0.81	NS
HNSC	Head and Neck squamous cell carcinoma	518	0.771	0.18	NS
KIRC	Kidney renal clear cell carcinoma	531	0.611	0.0313	Longer
KIRP	Kidney renal papillary cell carcinoma	287	0.886	0.782	NS
LAML	Acute Myeloid Leukemia	149	0.866	0.63	NS
LGG	Brain Lower Grade Glioma	511	2.544	0.00325	Shorter
LIHC	Liver hepatocellular carcinoma	365	1.387	0.196	NS
LUAD	Lung adenocarcinoma	502	0.958	0.833	NS
LUSC	Lung squamous cell carcinoma	494	1.06	0.763	NS
OV	Ovarian serous cystadenocarcinoma	303	1.512	0.0466	Shorter
PAAD	Pancreatic adenocarcinoma	177	1.017	0.954	NS
PCPG	Pheochromocytoma and Paraganglioma	179	672673623.458	0.134	NS
PRAD	Prostate adenocarcinoma	497	4.531	0.199	NS
READ	Rectum adenocarcinoma	159	0.83	0.807	NS
SARC	Sarcoma	259	1.812	0.0378	Shorter
SKCM	Skin Cutaneous Melanoma	459	1.415	0.074	NS
STAD	Stomach adenocarcinoma	388	0.899	0.624	NS
TGCT	Testicular Germ Cell Tumors	134	1	1	NS
THCA	Thyroid carcinoma	500	0.954	0.947	NS
THYM	Thymoma	119	0	0.0389	Longer
UCEC	Uterine Corpus Endometrial Carcinoma	543	1.098	0.747	NS

> Stage

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Association between expresson and stage.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
BLCA	Bladder urothelial carcinoma	406	-0.041	0.406	NS
BRCA	Breast invasive carcinoma	1071	-0.024	0.433	NS
CESC	Cervical and endocervical cancers	167	0.004	0.956	NS
COAD	Colon adenocarcinoma	445	-0.079	0.0981	NS
ESCA	Esophageal carcinoma	162	-0.028	0.724	NS
HNSC	Head and Neck squamous cell carcinoma	448	-0.024	0.613	NS
KIRC	Kidney renal clear cell carcinoma	531	-0.137	0.00161	Lower
KIRP	Kidney renal papillary cell carcinoma	260	0.033	0.597	NS
LIHC	Liver hepatocellular carcinoma	347	0.07	0.193	NS
LUAD	Lung adenocarcinoma	507	-0.021	0.63	NS
LUSC	Lung squamous cell carcinoma	497	-0.018	0.687	NS
OV	Ovarian serous cystadenocarcinoma	302	-0.074	0.199	NS
PAAD	Pancreatic adenocarcinoma	176	0.03	0.695	NS
READ	Rectum adenocarcinoma	156	-0.065	0.417	NS
SKCM	Skin Cutaneous Melanoma	410	-0.145	0.00329	Lower
STAD	Stomach adenocarcinoma	392	0.013	0.799	NS
TGCT	Testicular Germ Cell Tumors	81	-0.046	0.685	NS
THCA	Thyroid carcinoma	499	-0.039	0.389	NS
UCEC	Uterine Corpus Endometrial Carcinoma	501	-0.103	0.0215	Lower

> Grade

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Association between expresson and grade.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
CESC	Cervical and endocervical cancers	272	-0.066	0.274	NS
HNSC	Head and Neck squamous cell carcinoma	498	0.026	0.57	NS
KIRC	Kidney renal clear cell carcinoma	525	-0.107	0.014	Lower
LGG	Brain Lower Grade Glioma	514	0.085	0.0549	NS
LIHC	Liver hepatocellular carcinoma	366	-0.021	0.692	NS
OV	Ovarian serous cystadenocarcinoma	296	0.095	0.101	NS
PAAD	Pancreatic adenocarcinoma	176	-0.069	0.364	NS
STAD	Stomach adenocarcinoma	406	0.031	0.536	NS
UCEC	Uterine Corpus Endometrial Carcinoma	534	0.063	0.147	NS

Summary
Symbol	ARID1A
Name	AT-rich interaction domain 1A
Aliases	B120; C10rf4; BAF250; BAF250a; C1orf4; SMARCF1; SWI/SNF related, matrix associated, actin dependent regulato ......
Location	1p36.11
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	ARID1A
Name	AT-rich interaction domain 1A
Aliases	B120; C10rf4; BAF250; BAF250a; C1orf4; SMARCF1; SWI/SNF related, matrix associated, actin dependent regulato ......
Location	1p36.11
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 ARID1A.

Summary
Symbol	ARID1A
Name	AT-rich interaction domain 1A
Aliases	B120; C10rf4; BAF250; BAF250a; C1orf4; SMARCF1; SWI/SNF related, matrix associated, actin dependent regulato ......
Location	1p36.11
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

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PMID	Cancer	Hierarchy	Gene	Relation to CR	Evidence
22484628	Gastric Carcinoma	partner	PIK3CA	Co-existing mutation	We detected ARID1A mutations in 8% of tumors (9/110), which were associated with concurrent PIK3CA mutations and microsatellite instability.
22157930	Ovarian Clear Cell Tumor	partner	PIK3CA	co-existing mutation	These results suggest that loss of ARID1A protein expression occurs as a very early event in ovarian clear-cell carcinoma development, similar to the pattern of PIK3CA mutation recently reported by our group, and frequently coexists (not mutually exclusive) with PIK3CA mutations.
22037554	Gastric Carcinoma	partner	TP53	mutually exclusive mutation	The mutation spectrum for ARID1A differs between molecular subtypes of gastric cancer, and mutation prevalence is negatively associated with mutations in TP53.
21900401	Endometrioid Carcinoma; Ovarian Clear Cell Tumor; Endometrioid Carcinoma of Endometrium	partner	p53	Binding	Finally, we obtained evidence that the ARID1A/BRG1 complex interacted directly with p53 and that mutations in the ARID1A and TP53 genes were mutually exclusive in tumor specimens examined.; Our results provide functional evidence in support of the hypothesis that ARID1A is a bona fide tumor suppressor that collaborates with p53 to regulate CDKN1A and SMAD3 transcription and tumor growth in gynecologic cancers.
28123592	Breast Carcinoma	downstream	RAB11FIP1	Negative regulation	Interestingly, many genes were downregulated by partial loss of ARID1A, whereas RAB11FIP1 gene expression was significantly upregulated by partial loss of ARID1A expression in breast cancer cells.
27764136	Clear Cell Renal Cell Carcinoma	partner	PBRM1	Co-expression loss	For instance, ARID1A loss almost always accompanied PBRM1 loss, whereas BRM loss accompanied loss of BRG1, PBRM1 or ARID1A.
27634656	Hepatocellular Carcinoma; Cholangiocarcinoma	partner	AFP	Positive correlation	ARID1A mutations correlated with alcoholic liver disease, smaller tumour size, a lower grade of coexistent HCC, and α-fetoprotein (AFP) positivity, and were associated with cholangiolocellular carcinoma subtype predominance (P < 0.05).
25311944	Colorectal Carcinoma	partner	MMR; MLH1	association	ARID1A loss was observed in 9% (22/257) of the cohort: 24% of MMR-deficient tumors (14/59, 13 of the 14 being MLH1/PMS2 deficient) and 4% of MMR-normal tumors (8/198) (P < .05). MLH1 (mutL homolog 1) promoter hypermethylation was observed in 10 of the 13 MLH1/PMS2-deficient/ARID1A-loss tumors, indicating an association between ARID1A loss and sporadic microsatellite unstable CRCs.
25398420	Borderline Ovarian Clear Cell Adenofibroma with Intraepithelial Carcinoma	partner	p53	Mutually altered	In pure-type CCAs, expressions of ARID1A and p53 were mutually altered, and altered expression of p53 was associated with worse prognosis than that of ARID1A (P < 0.001).
25625625	Borderline Ovarian Clear Cell Adenofibroma with Intraepithelial Carcinoma	partner	PIK3CA	cooperation	We further show that ARID1A and PIK3CA mutations cooperate to promote tumour growth through sustained IL-6 overproduction.
25692284	Borderline Ovarian Clear Cell Adenofibroma with Intraepithelial Carcinoma	partner	PIK3CA	correlation	ARID1A and PIK3CA mutations appeared consistently in concurrent endometriosis when present in the primary CCC.
25757668	Esophageal Squamous Cell Carcinoma	downstream	E-cadherin	positive regulation	Decreased expression of ARID1A protein has been reported to decrease the expression of E-cadherin, an adhesion protein.
25975202	Hepatocellular Carcinoma	partner	E-cadherin	Correlation	E-cadherin levels were closely correlated with ARID1A expression, suggesting a role in migration and invasion.
26043110	Borderline Ovarian Clear Cell Adenofibroma with Intraepithelial Carcinoma	partner	PIK3CA	Coexistent alterations	Coexistent alterations of PIK3CA and ARID1A were more common in CCC-1 and CCC-3 (7/11, 64%) than in CCC-2 (0/10, 0%; P < 0.01).
26045782	Hepatocellular Carcinoma	downstream	p53; beta-catenin	negative regulation	Altered expression of ARID1A was inversely correlated with nuclear expression of p53 (P=0.018) or beta-catenin (P=0.025).
26400522	Gastric Carcinoma	upstream	SCF E3 ligase	regulation	Thus, our data uncovered a previous unknown posttranscriptional regulation of ARID1A by SCF E3 ligase in gastric cancer cells in DNA damage response.
26770240	Breast Carcinoma	partner	Ki-67; p53	correlation	Low expression of ARID1A significantly correlated with positive lymph node metastasis (p=0.027), advanced pathologic stage (p=0.001), low Ki-67 labeling index (p=0.003), and negative p53 expression (p=0.017).
26904685	Breast Carcinoma	partner	HIST2H2BE	Coexpress	All cases with ARID1A expression are overlapped with H2B high expression.
27172896	Breast Carcinoma	downstream	ANXA1	negative regulation	We demonstrate that ARID1A loss activates annexin A1 (ANXA1) expression, which is required for drug resistance through its activation of AKT.
27280691	Animal Mammary Neoplasms	downstream	p21 (Cdkn1a)	positive regulation	Consistent with the latter, Arid1a reexpression in tumor cells led to increased p21 (Cdkn1a) expression and dramatic accumulation of cells in G2 phase of the cell cycle.
27308548	Borderline Ovarian Clear Cell Adenofibroma with Intraepithelial Carcinoma	partner	EZH2	association	We reported that inhibition of enhancer of zeste homology 2 (EZH2) is synthetically lethal in ARID1A-mutated OCCC.
27323812	Gastric Carcinoma	downstream	PI3K/AKT pathway phosphorylation	positive regulation	Serial deletion mutation analyses revealed that the ARID1A central region containing the HIC1-binding domain, but not the ARID DNA-binding domain and the C-terminal domain, was essential for the inhibition of GC cell growth, PI3K/AKT pathway phosphorylation and its transcriptional modulation activity of PIK3CA and PDK1.
27334809	Liver and Intrahepatic Bile Duct Carcinoma	partner	KRAS	Mutually exclusive	There was no biliary carcinoma harboring both loss of ARID1A expression and KRAS mutations.
27528032	Head and Neck Squamous Cell Carcinoma	upstream	miR-31	negative regulation	This study provides novel mechanistic clues demonstrating that miR-31 inhibits ARID1A and that this enriches the oncogenicity and stemness of HNSCC.
27528032	Head and Neck Squamous Cell Carcinoma	downstream	Nanog; OCT4; Sox2; EpCAM	negative regulation	Furthermore, ARID1A repressed the stemness properties and transcriptional activity of Nanog/OCT4/Sox2/EpCAM via the protein's affinity for AT-rich sites within promoters.
27562491	Undifferentiated Ovarian Carcinoma	partner	ARID1B	concurrent	We identified concurrent inactivating mutations involving ARID1A and ARID1B in 12 of 24 BRG1/INI1-intact, 0 of 3 INI1-deficient and 0 of 16 BRG1-deficient dedifferentiated carcinomas.
27572311	Malignant Germ Cell Tumor	downstream	GADD45B; DUSP1; CDKN1A	negative regulation	We found that hypoacetylation at the ARID1A promotor caused repression of the SWI/SNF-complex member ARID1A. In consequence, this resulted in upregulation of the stress-sensors and apoptosis-regulators GADD45B, DUSP1 and CDKN1A.
27654507	Borderline Ovarian Clear Cell Adenofibroma with Intraepithelial Carcinoma	downstream	Mevalonate pathway	regulation	We conclude that ARID1A status indirectly influences the mevalonate pathway and probably influences other processes including glycogen metabolism and 14-3-3-mediated signaling.
27681437	Borderline Ovarian Clear Cell Adenofibroma with Intraepithelial Carcinoma	partner	PIK3CA	co-exists	ARID1A is frequently mutated in ovarian clear cell carcinoma (OCCC) and often co-exists with activating mutations of PIK3CA.
27764136	Clear Cell Renal Cell Carcinoma	partner	PBRM1	accompanied	For instance, ARID1A loss almost always accompanied PBRM1 loss, whereas BRM loss accompanied loss of BRG1, PBRM1 or ARID1A.