AiPD: Autoinhibited Protein Database

P54198

Gene name	HIRA (DGCR1, HIR, TUPLE1)
Protein name	Protein HIRA
Names	TUP1-like enhancer of split protein 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:7290
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

509-618 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

509-618 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

3 structures for P54198

Entry ID	Method	Resolution	Chain	Position	Source
2I32	X-ray	270 A	E/F	425-472	PDB
5YJE	X-ray	245 A	A/B/C	644-1017	PDB
AF-P54198-F1	Predicted				AlphaFoldDB

568 variants for P54198

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000149148 CA174450 rs193920856 COSM1179909	274	V>M	Malignant tumor of prostate prostate [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV000897884 CA10099777 rs150603624 RCV002539459	373	R>H	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs775050717 CA10100059	3	L>I		No	ClinGen ExAC gnomAD
CA410665553 rs1233792134	4	L>V		No	ClinGen gnomAD
CA322053792 rs1054724301	7	T>I		No	ClinGen TOPMed gnomAD
rs1286318904 CA410665535	7	T>P		No	ClinGen gnomAD
CA322053800 rs1054724301	7	T>S		No	ClinGen TOPMed gnomAD
CA410662114 rs1029291515	14	K>N		No	ClinGen TOPMed gnomAD
CA10100033 COSM579511 rs760600000	15	P>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA410662072 rs1447367518	18	S>A		No	ClinGen gnomAD
COSM1682100 CA410662068 rs1286190013	18	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs749483837 CA10100030	19	V>A		No	ClinGen ExAC gnomAD
rs771778888 CA10100031	19	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1246956562 CA410662035	21	I>V		No	ClinGen gnomAD
rs770185600 CA10100028	25	G>R		No	ClinGen ExAC gnomAD
TCGA novel	27	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757672824 CA322072347	33	Q>H		No	ClinGen Ensembl
CA410661551 rs1348883817	36	D>G		No	ClinGen TOPMed
CA10100000 rs753504888	42	I>V		No	ClinGen ExAC TOPMed gnomAD
CA10099999 rs779553034	46	S>C		No	ClinGen ExAC gnomAD
CA410661391 rs1308161138	47	P>A		No	ClinGen TOPMed
CA322071251 rs202246126	48	V>I		No	ClinGen TOPMed
CA10099998 rs755598858	51	E>A		No	ClinGen ExAC gnomAD
CA322071228 rs975998877	55	K>N		No	ClinGen Ensembl
CA410661231 rs1360771794	56	D>N		No	ClinGen TOPMed
CA410661203 rs751385357	57	E>A		No	ClinGen ExAC TOPMed gnomAD
rs751385357 CA410661200	57	E>G		No	ClinGen ExAC TOPMed gnomAD
rs751385357 CA10099994	57	E>V		No	ClinGen ExAC TOPMed gnomAD
CA410661186 rs1248935559	58	N>I		No	ClinGen TOPMed
rs763994540 CA10099993	60	P>S		No	ClinGen ExAC TOPMed gnomAD
CA10099992 rs759763981	61	K>R		No	ClinGen ExAC TOPMed gnomAD
CA10099991 rs777023892	63	L>F		No	ClinGen ExAC gnomAD
rs770994476 CA10099990	64	C>F		No	ClinGen ExAC gnomAD
CA410661085 rs770994476	64	C>Y		No	ClinGen ExAC gnomAD
rs1249683618 CA410661044	67	D>H		No	ClinGen gnomAD
rs201978046 CA322070552	74	N>D		No	ClinGen 1000Genomes
rs1345797638 CA410660972	75	C>S		No	ClinGen gnomAD
rs752588142 CA10099967	81	S>G		No	ClinGen ExAC TOPMed gnomAD
CA410660861 rs1455318380	91	D>N		No	ClinGen gnomAD
CA10099963 rs570126799	99	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA10099962 rs762244204	100	A>T		No	ClinGen ExAC gnomAD
CA410660789 rs1185401845 COSM3842183	101	T>M	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
TCGA novel	103	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1202559469 CA410660757	104	G>C		No	ClinGen TOPMed gnomAD
CA410660759 rs1202559469	104	G>S		No	ClinGen TOPMed gnomAD
rs1031780750 CA410660747	106	S>G		No	ClinGen TOPMed gnomAD
rs1031780750 CA322069828	106	S>R		No	ClinGen TOPMed gnomAD
rs1310229714 CA410660735	107	T>I		No	ClinGen gnomAD
CA10099946 rs139850367	108	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs750666438 CA10099945	110	G>S		No	ClinGen ExAC TOPMed gnomAD
CA410660707 rs1389880556	112	S>N		No	ClinGen gnomAD
TCGA novel	114	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs997023059 COSM3390089 CA322069796	117	N>S	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
CA10099944 rs34074246	118	V>A		No	ClinGen ExAC gnomAD
rs1463800504 CA410660668	118	V>L		No	ClinGen gnomAD
rs1463800504 CA410660669	118	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA410660632 rs1601849479	123	C>G		No	ClinGen Ensembl
rs764578546 CA10099941	125	S>C		No	ClinGen ExAC gnomAD
rs775656537 CA10099939	128	R>W		No	ClinGen ExAC gnomAD
rs770199053	132	G>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
COSM1307946 rs1224024599 CA410660570	133	D>N	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA410658844 rs1242566049	133	D>V		No	ClinGen gnomAD
rs1304363518 CA410658813	137	V>A		No	ClinGen TOPMed
rs1569306931 CA410658760	145	W>R		No	ClinGen Ensembl
rs930899271 CA322064144	151	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs145974032 CA10099915	156	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	158	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410658651 rs1601844259	161	V>I		No	ClinGen Ensembl
rs1018731405 CA322063256	168	A>T		No	ClinGen Ensembl
CA410658587 rs1364436738	168	A>V		No	ClinGen gnomAD
CA410658569 rs1569306625	171	R>S		No	ClinGen Ensembl
TCGA novel	179	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	183	D>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765742394 CA10099901	189	I>V		No	ClinGen ExAC gnomAD
TCGA novel	190	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA322063234 rs376557926	194	D>E		No	ClinGen ESP TOPMed
CA322063226 rs1030535228	196	R>C		No	ClinGen TOPMed gnomAD
rs1030535228 CA410658291	196	R>G		No	ClinGen TOPMed gnomAD
CA10099900 rs147406287	196	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1223472359 CA410658130	203	T>M		No	ClinGen gnomAD
CA10099896 rs773033524	207	Q>E		No	ClinGen ExAC gnomAD
CA10099895 rs552763951	207	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA10099894 rs200886986	208	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1344289717 CA410657960	210	T>I		No	ClinGen gnomAD
CA10099893 rs773797074	215	P>L		No	ClinGen ExAC gnomAD
CA10099892 rs768620441	217	D>Y		No	ClinGen ExAC gnomAD
rs1157533113 CA410656743	222	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1406644995 CA410656584	229	S>N		No	ClinGen gnomAD
rs1405927726 CA410656450	235	H>D		No	ClinGen gnomAD
TCGA novel	236	Y>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410656364 rs1389524901	238	V>L		No	ClinGen TOPMed
CA322061494 rs991942025	240	A>V		No	ClinGen Ensembl
CA322061432 rs1033372999	247	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1264242256 CA410655999	254	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA410655937 rs1314580523	257	G>E		No	ClinGen gnomAD
rs778986668 CA10099867	259	K>N		No	ClinGen ExAC TOPMed gnomAD
CA410655885 rs1312472186	262	M>V		No	ClinGen gnomAD
CA410655839 rs1451572445	268	R>W		No	ClinGen gnomAD
rs193920856 CA410655802	274	V>L		No	ClinGen ExAC TOPMed gnomAD
CA322059820 rs928740653	275	K>R		No	ClinGen Ensembl
CA322059813 rs980560101	279	K>N		No	ClinGen Ensembl
TCGA novel	280	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1400634405 CA410655735	282	K>Q		No	ClinGen gnomAD
CA10099851 rs748363933	283	K>N		No	ClinGen ExAC gnomAD
rs539358236 CA10099852	283	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1424316699 CA410655717	284	K>R		No	ClinGen gnomAD
CA410655706 rs1369396099	285	Q>H		No	ClinGen gnomAD
TCGA novel	290	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1223642425 CA410655668	291	A>P		No	ClinGen Ensembl
CA322059797 rs750582371	291	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs769052257 CA10099849	295	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1221254749 CA410655630	296	P>L		No	ClinGen gnomAD
CA410655633 rs1266204622	296	P>S		No	ClinGen gnomAD
rs1266989139 CA410655624	297	Y>F		No	ClinGen gnomAD
rs770363362 CA10099846	308	S>L		No	ClinGen ExAC gnomAD
rs1569305092 CA410655499	309	L>V		No	ClinGen Ensembl
rs1342426548 CA410655471	311	V>I		No	ClinGen TOPMed gnomAD
TCGA novel	312	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	315	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA322057391 rs1038159442	315	C>Y		No	ClinGen gnomAD
rs781527480 CA10099825	317	K>T		No	ClinGen ExAC gnomAD
rs771507259 CA10099824	318	R>Q		No	ClinGen ExAC gnomAD
rs190620718 CA322057382	318	R>W		No	ClinGen 1000Genomes
rs747330757 CA10099823	319	P>A		No	ClinGen ExAC gnomAD
rs1569303771 CA410653308	319	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA410653303 rs1199951957	320	L>M		No	ClinGen gnomAD
CA410653168 rs1601837560	328	D>E		No	ClinGen Ensembl
rs752351447 CA10099820	328	D>N		No	ClinGen ExAC gnomAD
CA10099819 rs778356204	331	I>V		No	ClinGen ExAC gnomAD
rs754471078 CA10099818	332	M>V		No	ClinGen ExAC gnomAD
CA410652855 rs747751052	342	G>A		No	ClinGen ExAC gnomAD
rs747751052 CA10099803	342	G>V		No	ClinGen ExAC gnomAD
CA322056706 rs973953105	343	I>T		No	ClinGen Ensembl
CA410652760 rs1360643171 CA410652759 COSM1285371	348	M>I	autonomic_ganglia [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1422417604 CA410652634	352	V>L		No	ClinGen gnomAD
CA10099799 rs574104092	356	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM3939559 CA10099797 rs750413882	364	D>N	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs370558448 CA322056684	365	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
CA410652324 rs370558448	365	P>T		No	ClinGen ESP TOPMed
rs1005125088 CA322056679	368	E>K		No	ClinGen TOPMed
rs781242256 CA10099778	373	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1461760759 CA410651216	374	I>N		No	ClinGen TOPMed
rs754121165 CA10099773	378	T>I		No	ClinGen ExAC gnomAD
rs773322057 CA410651069	385	I>F		No	ClinGen ExAC TOPMed gnomAD
rs773322057 CA10099770 COSM1414879	385	I>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1234761360 CA410651057	386	M>V		No	ClinGen TOPMed
rs774645216 CA10099767	388	E>K		No	ClinGen ExAC TOPMed gnomAD
RCV000888405 rs143858430 CA10099766	389	A>T		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA322052946 rs987160280	390	Q>R		No	ClinGen TOPMed gnomAD
CA410650982 rs1252832634	391	L>F		No	ClinGen TOPMed
rs536088629 CA10099764	393	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1210075587 CA410650952	393	T>I		No	ClinGen TOPMed
rs745364733 COSM1414878 CA10099762	395	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1601835500 CA410650892	398	N>T		No	ClinGen Ensembl
rs1260502553 CA410650796	405	Q>K		No	ClinGen gnomAD
rs772784239 CA10099759	406	R>Q		No	ClinGen ExAC gnomAD
rs752485345 CA10099756	412	Q>P		No	ClinGen ExAC gnomAD
rs1428115400 CA410650602	413	L>Q		No	ClinGen TOPMed
rs1370634277 CA410650501	416	K>N		No	ClinGen gnomAD
CA410650469 rs1308093680	417	S>N		No	ClinGen gnomAD
CA410650414 rs780294288	419	A>G		No	ClinGen ExAC TOPMed gnomAD
CA10099753 rs780294288	419	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1334569117 CA410650369	421	R>G		No	ClinGen gnomAD
rs1358637487 CA410650311	422	E>K		No	ClinGen gnomAD
COSM77845 rs767600943 CA10099750	423	M>I	ovary [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA410650220 rs1405996174	424	G>R		No	ClinGen gnomAD
rs115157927 CA10099749	425	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA410650155 rs1360931359	426	A>V		No	ClinGen gnomAD
CA10099747 rs375105424	430	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA10099746 rs763343044	431	G>D		No	ClinGen ExAC gnomAD
CA322052825 rs1022900795	432	V>A		No	ClinGen Ensembl
CA10099744 rs769555605	432	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA410649950 rs1314634762	434	N>S		No	ClinGen gnomAD
TCGA novel	436	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776213696 CA10099742	441	I>T		No	ClinGen ExAC gnomAD
rs1167500145 CA410649003	444	N>S		No	ClinGen gnomAD
TCGA novel	445	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774133994 CA10099718	445	L>V		No	ClinGen ExAC gnomAD
CA10099717 rs768457786	453	R>W		No	ClinGen ExAC gnomAD
CA10099716 rs749126001	455	A>V		No	ClinGen ExAC TOPMed gnomAD
CA322051235 rs968445888	458	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA10099712 rs777721953	462	T>M		No	ClinGen ExAC gnomAD
CA10099709 rs765657803	468	Q>K		No	ClinGen ExAC gnomAD
CA410648500 rs1220148582	470	D>A		No	ClinGen gnomAD
CA410648482 rs1342483652	471	T>A		No	ClinGen gnomAD
rs1244129649 CA410648447	472	G>A		No	ClinGen TOPMed
rs926104116 CA322047003	476	T>M		No	ClinGen TOPMed gnomAD
rs868626444 COSM3405507 CA322047000	477	A>T	Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs199719485 CA10099687	477	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	478	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10099686 rs755730907	478	F>S		No	ClinGen ExAC gnomAD
CA410646075 rs1171324165	484	L>V		No	ClinGen TOPMed
rs761210709 CA10099683 COSM1032089	485	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1317566167 CA410646060	486	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs764017914 CA10099681	487	S>C		No	ClinGen ExAC TOPMed gnomAD
rs775209569 COSM1714142 CA10099679	489	A>V	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs143389505 COSM3964091 CA10099677	490	G>S	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
rs1345835665 CA410646040	490	G>V		No	ClinGen gnomAD
rs865795064 CA322046918	492	M>I		No	ClinGen Ensembl
rs1183604644 CA410646031	492	M>T		No	ClinGen gnomAD
rs773275900 CA10099676	492	M>V		No	ClinGen ExAC TOPMed gnomAD
rs779199939 CA10099673	496	H>Y		No	ClinGen ExAC gnomAD
rs1284251774 CA410645972	499	P>S		No	ClinGen TOPMed
rs780414863 CA410645944	501	L>V		No	ClinGen ExAC gnomAD
CA410645899 rs1418770256	504	L>P		No	ClinGen gnomAD
CA10099665 rs751006611	505	D>N		No	ClinGen ExAC gnomAD
rs763609359 CA10099664	506	S>C		No	ClinGen ExAC TOPMed gnomAD
CA322046878 rs549703283	506	S>P		No	ClinGen Ensembl
CA10099663 rs768556093	508	T>I		No	ClinGen ExAC TOPMed gnomAD
CA410645852 rs768556093	508	T>N		No	ClinGen ExAC TOPMed gnomAD
CA410645860 rs1601829445	508	T>P		No	ClinGen Ensembl
rs1367773488 CA410645846	509	P>T		No	ClinGen TOPMed gnomAD
CA410645824 rs1601829434	510	N>T		No	ClinGen Ensembl
CA10099661 rs759228734	512	F>L		No	ClinGen ExAC TOPMed gnomAD
CA10099662 rs752663990	512	F>S		No	ClinGen ExAC TOPMed gnomAD
CA410645783 rs1259762891	513	G>S		No	ClinGen TOPMed gnomAD
CA410645760 rs376487965	514	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10099658 rs376487965	514	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1264582798 CA410645743	515	S>L		No	ClinGen TOPMed gnomAD
CA10099656 rs774512048	518	C>F		No	ClinGen ExAC TOPMed gnomAD
rs1284090192 CA410645654	519	T>P		No	ClinGen gnomAD
rs768876608 CA10099655 COSM1414874	521	P>S	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA410645512 rs1601829391	524	A>P		No	ClinGen Ensembl
CA410645496 rs1315665496	524	A>V		No	ClinGen gnomAD
CA410645491 rs1374759178	525	A>T		No	ClinGen gnomAD
CA10099653 rs201137277	526	S>I		No	ClinGen 1000Genomes ExAC
CA410645440 rs1601829385	526	S>R		No	ClinGen Ensembl
TCGA novel	526	S>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746218770 CA10099651	529	P>L		No	ClinGen ExAC gnomAD
rs770395156 CA10099652	529	P>S		No	ClinGen ExAC gnomAD
rs1324213887 CA410645343	530	A>S		No	ClinGen TOPMed
CA410645320 rs1373449157	530	A>V		No	ClinGen TOPMed
CA410645315 rs1234484328	531	G>R		No	ClinGen TOPMed
CA10099649 rs756848176	532	D>N		No	ClinGen ExAC TOPMed gnomAD
CA410645136 rs1163791660	536	K>E		No	ClinGen gnomAD
CA410644542 rs1377918480	539	M>I		No	ClinGen gnomAD
CA410644552 rs1370319342	539	M>T		No	ClinGen TOPMed
CA10099625 rs369731182	539	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1200094726 CA410644487	540	N>K		No	ClinGen gnomAD
CA410644259 rs1569299948	544	T>I		No	ClinGen Ensembl
rs1470088694 CA410644294	544	T>S		No	ClinGen gnomAD
rs1198524396 CA410644223	545	P>R		No	ClinGen gnomAD
CA410644252 rs754812596	545	P>S		No	ClinGen ExAC TOPMed gnomAD
rs754812596 CA10099624	545	P>T		No	ClinGen ExAC TOPMed gnomAD
CA10099622 rs770436579	549	S>L		No	ClinGen ExAC TOPMed gnomAD
CA410643871 rs1275056973	554	T>M		No	ClinGen gnomAD
CA10099620 rs375291531	556	P>L		No	ClinGen ExAC gnomAD
rs765383993 CA10099616	557	S>F		No	ClinGen ExAC gnomAD
TCGA novel	558	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1172707703 CA410643738	560	E>K		No	ClinGen gnomAD
rs1172707703 CA410643737	560	E>Q		No	ClinGen gnomAD
rs759921596 CA10099615	562	M>L		No	ClinGen ExAC gnomAD
rs1219086263 CA410643609	564	A>P		No	ClinGen TOPMed
rs1424785779 CA410643603 COSM3424031	564	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1181284048 CA410643480	568	R>Q		No	ClinGen TOPMed
rs140834026 CA10099613	568	R>W		No	ClinGen ESP ExAC gnomAD
CA410643327 rs1601827896	571	E>D		No	ClinGen Ensembl
CA10099612 rs747362379	571	E>K		No	ClinGen ExAC TOPMed gnomAD
CA10099611 rs773632600	572	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA410643079 rs1161738315	577	P>R		No	ClinGen TOPMed
rs781763249 CA322045145	577	P>S		No	ClinGen Ensembl
rs747848368 CA10099609	578	G>D		No	ClinGen ExAC gnomAD
rs200617642 CA322045126	579	A>V		No	ClinGen Ensembl
rs778236065 CA10099608	580	P>L		No	ClinGen ExAC TOPMed gnomAD
CA410642976 rs1235983414	581	A>D		No	ClinGen gnomAD
rs116694036 CA10099607	581	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA410642940 rs1351943719	582	L>P		No	ClinGen TOPMed
CA10099605 rs780113555	583	T>I		No	ClinGen ExAC TOPMed gnomAD
CA10099603 rs569402595	587	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA322045098 rs569402595	587	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758503476 CA10099601	590	V>M		No	ClinGen ExAC TOPMed gnomAD
CA410636782 rs1569295915	593	L>S		No	ClinGen Ensembl
rs751362133 CA10099583	595	E>K		No	ClinGen ExAC TOPMed gnomAD
CA410636728 rs751362133	595	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA410636704 rs1483676590	596	Q>*		No	ClinGen TOPMed
CA10099581 rs755222516	597	N>K		No	ClinGen ExAC gnomAD
rs766459895 CA10099580	598	L>F		No	ClinGen ExAC TOPMed gnomAD
rs766459895 CA10099579	598	L>V		No	ClinGen ExAC TOPMed gnomAD
rs750958109 CA10099577	600	K>Q		No	ClinGen ExAC gnomAD
rs767946325 CA10099576	600	K>R		No	ClinGen ExAC gnomAD
rs1277833504 CA410636592	602	L>P		No	ClinGen gnomAD
CA10099574 rs774632215	604	P>A		No	ClinGen ExAC gnomAD
TCGA novel	605	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	605	R>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10099571 rs193106800	605	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs769463188 CA10099570	607	L>I		No	ClinGen ExAC TOPMed gnomAD
CA410636178 rs1376634696	615	D>N		No	ClinGen TOPMed gnomAD
CA410636120 rs1170724288	616	E>D		No	ClinGen gnomAD
rs1173517226 CA410636107	617	K>*		No	ClinGen gnomAD
rs770832155 CA10099567	619	P>A		No	ClinGen ExAC gnomAD
rs373944414 CA10099566	619	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA410636030 rs1488670032	620	L>*		No	ClinGen gnomAD
rs1303711112 CA410636005	621	A>T		No	ClinGen TOPMed
CA321385325 rs368498330	621	A>V		No	ClinGen ESP TOPMed
CA10099565 rs777434726	623	A>S		No	ClinGen ExAC gnomAD
CA321385317 rs1017132310	623	A>V		No	ClinGen gnomAD
rs1228245556 CA410635884	626	L>Q		No	ClinGen gnomAD
rs753766137 CA10099564	626	L>T		No	ClinGen ExAC
rs1299441517 CA410635846	628	K>R		No	ClinGen gnomAD
CA10099561 rs749532341	629	R>Q		No	ClinGen ExAC TOPMed
rs780067472 CA10099560	632	E>D		No	ClinGen ExAC gnomAD
CA321385304 rs1056636758	633	L>H		No	ClinGen gnomAD
CA321385296 rs1002503396	635	V>A		No	ClinGen Ensembl
CA10099559 rs750547846	635	V>I		No	ClinGen ExAC gnomAD
CA10099558 rs750547846 COSM402257	635	V>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1445137919 CA410635537	638	V>L		No	ClinGen gnomAD
rs768051739 CA10099557	640	K>Q		No	ClinGen ExAC gnomAD
rs757767242 CA10099556	640	K>R		No	ClinGen ExAC
CA10099549 rs765032954	651	R>C		No	ClinGen ExAC TOPMed gnomAD
CA410635147 rs1457316829	651	R>H		No	ClinGen gnomAD
CA410635078 rs1240951056	653	M>I		No	ClinGen TOPMed
rs1187868647 COSM1032085 CA410635055	654	P>H	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA10099548 rs139292308	654	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs777272332 CA321385255	657	L>P		No	ClinGen Ensembl
rs1453554517 CA410634936	659	V>I		No	ClinGen TOPMed
rs1311478571 CA410634559	665	L>P		No	ClinGen gnomAD
CA10099525 rs772043762	666	T>I		No	ClinGen ExAC gnomAD
CA410634522 rs772043762	666	T>N		No	ClinGen ExAC gnomAD
rs759651277 CA10099522	667	A>S		No	ClinGen ExAC TOPMed gnomAD
rs759651277 COSM1196098 CA10099523	667	A>T	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA321385053 rs982226028	667	A>V		No	ClinGen gnomAD
CA10099520 rs781295351	669	K>E		No	ClinGen ExAC gnomAD
TCGA novel	670	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410634307 rs1187382309	672	M>I		No	ClinGen gnomAD
rs747166685 CA10099518	672	M>V		No	ClinGen ExAC TOPMed gnomAD
rs778130021 CA10099517	674	L>P		No	ClinGen ExAC gnomAD
CA321385036 rs114380725	677	P>L		No	ClinGen 1000Genomes
rs1446804454 CA410634186	677	P>S		No	ClinGen gnomAD
TCGA novel	678	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779434216 CA10099514	681	L>M		No	ClinGen ExAC gnomAD
rs754627009 CA10099513	681	L>Q		No	ClinGen ExAC gnomAD
CA410634142 rs1601817545	682	K>N		No	ClinGen Ensembl
CA10099511 rs766094983	684	P>Q		No	ClinGen ExAC
CA410634132 rs1273087935	684	P>S		No	ClinGen gnomAD
CA410634115 rs1370416585	685	I>T		No	ClinGen TOPMed
CA410634101 rs1233411143	686	P>R		No	ClinGen gnomAD
CA410634084 rs1167711791	687	S>N		No	ClinGen TOPMed
rs1425588718 CA410634069	688	P>T		No	ClinGen gnomAD
CA410634041 rs1275939520	689	Q>K		No	ClinGen TOPMed gnomAD
rs774490830 CA10099508 COSM1682099	690	R>T	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA410633978 rs1320118217	692	F>L		No	ClinGen TOPMed gnomAD
CA410633961 rs1601817506	693	T>P		No	ClinGen Ensembl
CA410633937 rs1384849213	694	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA410633944 rs1384849213	694	L>I		No	ClinGen TOPMed gnomAD
CA10099506 rs761741084	695	Q>R		No	ClinGen ExAC gnomAD
rs749834610	696	V>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1329462070 CA410632886	697	S>N		No	ClinGen gnomAD
CA410632847 rs910859106	699	D>N		No	ClinGen TOPMed gnomAD
CA321384439 rs910859106	699	D>Y		No	ClinGen TOPMed gnomAD
CA321384436 rs1002459398	700	P>H		No	ClinGen TOPMed
rs1169831671 CA410632803	700	P>S		No	ClinGen gnomAD
CA10099482 rs764073070	702	M>T		No	ClinGen ExAC TOPMed
rs751469729 CA10099483	702	M>V		No	ClinGen ExAC gnomAD
CA410632722 rs1302454061	704	I>F		No	ClinGen TOPMed
CA410632702 rs1194810398	705	E>K		No	ClinGen gnomAD
rs1236868555 CA410632663	707	E>K		No	ClinGen gnomAD
CA321384427 rs1046299989	711	T>I		No	ClinGen TOPMed gnomAD
rs1274710484 CA410632549	713	V>L		No	ClinGen TOPMed gnomAD
rs1274710484 CA410632547	713	V>M		No	ClinGen TOPMed gnomAD
CA410632514 rs766444068	714	G>A		No	ClinGen ExAC gnomAD
CA10099479 rs766444068	714	G>E		No	ClinGen ExAC gnomAD
rs1569295013 CA410632522	714	G>R		No	ClinGen Ensembl
CA10099478 rs760967846	715	G>A		No	ClinGen ExAC TOPMed gnomAD
CA10099475 rs139903076	716	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs139903076 CA10099474	716	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs774976171 CA10099473	719	S>N		No	ClinGen ExAC TOPMed gnomAD
rs201411183 CA10099472	720	R>C		No	ClinGen ExAC TOPMed gnomAD
rs147482921 CA10099471	720	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA10099470 rs367959199	723	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1412918849 CA410632367	724	N>S		No	ClinGen gnomAD
CA10099468 rs567129767	725	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10099467 rs780865485	725	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs567129767 CA10099469	725	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs932832957 CA321384387	727	G>E		No	ClinGen TOPMed gnomAD
CA10099466 rs756740115	732	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA321384382 rs777391169	732	T>S		No	ClinGen TOPMed gnomAD
rs1601816070 CA410632179	734	L>P		No	ClinGen Ensembl
CA10099464 rs764018146	735	T>A		No	ClinGen ExAC gnomAD
CA410632173 rs764018146	735	T>P		No	ClinGen ExAC gnomAD
CA10099462 rs752377093	736	S>R		No	ClinGen ExAC gnomAD
CA410632105 COSM1743496 rs1306228518	737	R>Q	biliary_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
CA10099461 rs143152290	737	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA10099460 rs376780591	738	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA10099457 rs761969691	742	A>S		No	ClinGen ExAC gnomAD
COSM1414872 rs774636516 CA10099456	742	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs782220260 CA10099434	746	D>G		No	ClinGen ExAC TOPMed gnomAD
CA10099432 rs141953250	747	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA10099433 rs568046100	747	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs973214086 CA321383565	750	V>A		No	ClinGen Ensembl
rs199804204 CA321383562	751	A>S		No	ClinGen ExAC TOPMed gnomAD
rs199804204 CA10099430	751	A>T		No	ClinGen ExAC TOPMed gnomAD
rs907810946 CA321383558	752	C>R		No	ClinGen Ensembl
CA410630877 rs1556012836	752	C>S		No	ClinGen gnomAD
COSM3939558 rs782739782 CA10099427	758	S>L	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
TCGA novel	761	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs147195466 CA10099424	762	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA321383529 rs7284524	763	C>S		No	ClinGen Ensembl
CA410630623 rs1407907782	765	R>C		No	ClinGen TOPMed gnomAD
CA410630618 rs1556012805	765	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10099423 rs372432375	766	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs781971961 CA321383520	766	R>H		No	ClinGen TOPMed gnomAD
CA321383516 rs1001932686	767	L>F		No	ClinGen Ensembl
CA410630540 rs1556012799	769	S>C		No	ClinGen gnomAD
TCGA novel	770	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10099422 rs781913337	771	I>F		No	ClinGen ExAC TOPMed gnomAD
CA410630504 rs1601814070	771	I>T		No	ClinGen Ensembl
TCGA novel	772	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410630427 rs1556012781	774	P>L		No	ClinGen gnomAD
rs1556012778 CA410630407	775	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs781966878 CA10099419	776	P>L		No	ClinGen ExAC TOPMed gnomAD
CA10099417 rs782280084	777	I>V		No	ClinGen ExAC gnomAD
CA10099416 rs782037814	781	H>D		No	ClinGen ExAC TOPMed gnomAD
rs1436950635 CA410630268	781	H>Q		No	ClinGen TOPMed
rs782316697 CA10099415	783	T>A		No	ClinGen ExAC gnomAD
CA410630220 rs1297347356	783	T>I		No	ClinGen TOPMed
CA10099414 rs782605496	784	G>A		No	ClinGen ExAC gnomAD
CA10099413 rs782605496	784	G>D		No	ClinGen ExAC gnomAD
rs891938404 CA321383484	785	S>C		No	ClinGen TOPMed gnomAD
CA410630181 rs891938404	785	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	786	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782075352 CA10099411	787	V>I		No	ClinGen ExAC TOPMed gnomAD
CA10099410 rs782655414	788	M>V		No	ClinGen ExAC gnomAD
rs782526039 CA10099409	789	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1453481283 CA410630094	790	L>F		No	ClinGen TOPMed
CA410630088 rs1556012728	791	T>P		No	ClinGen gnomAD
CA10099406 rs782447548	792	A>T		No	ClinGen ExAC gnomAD
rs1556012718 CA410630056	793	A>P		No	ClinGen gnomAD
rs781818064 CA10099405	795	T>A		No	ClinGen ExAC gnomAD
rs1556012711 CA410629987	796	L>P		No	ClinGen gnomAD
rs782020445 CA10099402	797	S>C		No	ClinGen ExAC gnomAD
CA410629949 rs1569293974	798	V>I		No	ClinGen Ensembl
CA410629696 rs1556012529	804	Q>E		No	ClinGen gnomAD
rs1601813512 CA410629673	805	V>G		No	ClinGen Ensembl
rs1556012526 CA410629680	805	V>M		No	ClinGen gnomAD
rs782559269 CA10099384	812	S>C		No	ClinGen ExAC gnomAD
rs1456544049 CA410629530	813	L>I		No	ClinGen TOPMed
rs781795705 CA10099383	813	L>P		No	ClinGen ExAC gnomAD
CA10099380 rs781838556	814	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA10099381 rs782082727	814	H>R		No	ClinGen ExAC TOPMed gnomAD
CA410629471 rs1329917043	815	S>C		No	ClinGen TOPMed
CA10099379 rs782765838	818	A>E		No	ClinGen ExAC TOPMed gnomAD
rs782497579 CA10099363	820	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1288440667 CA410629356	821	D>N		No	ClinGen TOPMed
rs562770125 CA10099362	822	M>L		No	ClinGen 1000Genomes ExAC gnomAD
CA410629343 rs1556012362	822	M>T		No	ClinGen gnomAD
rs562770125 CA410629347	822	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA10099361 rs752753586	823	T>A		No	ClinGen ExAC TOPMed gnomAD
rs201952874 CA10099360	823	T>M		No	ClinGen ExAC TOPMed gnomAD
CA10099359 rs781789925	824	V>L		No	ClinGen ExAC TOPMed gnomAD
CA10099358 rs782715488	826	Q>K		No	ClinGen ExAC gnomAD
CA321383153 rs907005315	827	I>T		No	ClinGen TOPMed
rs200432766 CA321383149	830	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs914491938 CA321383129	836	V>E		No	ClinGen TOPMed gnomAD
CA410629257 rs1556012334	836	V>I		No	ClinGen gnomAD
rs868959325 CA410629226	840	S>C		No	ClinGen Ensembl
rs868959325 CA410629225	840	S>F		No	ClinGen Ensembl
CA410629224 rs369016927	841	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA10099352 rs369016927	841	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA10099353 rs369016927	841	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs782206941 CA10099351	844	A>S		No	ClinGen ExAC gnomAD
CA10099350 rs781964027	844	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs140794627 CA10099345	849	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10099346 rs145910446	849	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA321383105 rs955467536	852	S>C		No	ClinGen gnomAD
rs1556011786 CA410641429	855	N>D		No	ClinGen gnomAD
rs922340832 CA321374066	858	S>F		No	ClinGen Ensembl
CA10099325 rs782595183	859	D>E		No	ClinGen ExAC gnomAD
CA410641356 rs942510218	860	K>N		No	ClinGen gnomAD
rs782487132 CA10099324	863	S>P		No	ClinGen ExAC gnomAD
rs1556011776 CA410641294	864	L>R		No	ClinGen gnomAD
rs1556011774 CA410641289	865	A>P		No	ClinGen gnomAD
rs544099601 CA410641259	867	C>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs544099601 CA10099323	867	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA410641196 rs1239553382	872	S>G		No	ClinGen TOPMed
rs1556011766 CA410641190	872	S>N		No	ClinGen gnomAD
rs782730594 CA10099319	879	A>T		No	ClinGen ExAC TOPMed gnomAD
CA10099318 rs782466504 CA410641091	880	M>I		No	ClinGen ExAC gnomAD
rs1556011760 CA410641083	881	L>P		No	ClinGen Ensembl
rs1556011756 CA410641071	882	C>S		No	ClinGen gnomAD
rs782005515 CA10099316	885	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10099317 rs781839302	885	P>S		No	ClinGen ExAC gnomAD
CA410641031 rs781839302	885	P>T		No	ClinGen ExAC gnomAD
CA321374028 rs970840198	888	I>M		No	ClinGen Ensembl
rs371162057 CA321374034	888	I>V		No	ClinGen ESP gnomAD
rs1136029 CA321374021	889	I>N		No	ClinGen Ensembl
CA321374024 rs1025444477	889	I>V		No	ClinGen TOPMed gnomAD
CA10099314 rs776189585	892	R>C		No	ClinGen ExAC TOPMed gnomAD
rs782806732 CA10099313	892	R>H		No	ClinGen ExAC gnomAD
rs782045405 CA10099312	893	T>N		No	ClinGen ExAC gnomAD
CA321373986 rs1032493576	894	S>C		No	ClinGen Ensembl
CA10099311 rs781930109	895	N>S		No	ClinGen ExAC gnomAD
rs369749804 CA10099295	896	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA10099296 rs373482041	896	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA10099294 rs369749804	896	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA410640682 rs1440279033	900	A>S		No	ClinGen TOPMed
CA10099291 rs782132936	901	A>V		No	ClinGen ExAC gnomAD
rs889541475 CA321373593	902	R>Q		No	ClinGen Ensembl
CA10099290 rs782416995	902	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA410640603 rs1556011544	904	F>L		No	ClinGen gnomAD
CA410640569 rs781954576	906	V>L		No	ClinGen ExAC TOPMed gnomAD
rs781954576 CA10099287	906	V>M		No	ClinGen ExAC TOPMed gnomAD
CA321373586 rs145525716	907	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10099285 rs145525716	907	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782359989 CA10099286	907	P>S		No	ClinGen ExAC gnomAD
CA10099283 rs782413898	908	H>P		No	ClinGen ExAC gnomAD
rs782573654 CA10099281	911	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1569292640 CA410640386	913	E>D		No	ClinGen Ensembl
rs781813391 CA10099279	915	T>I		No	ClinGen ExAC gnomAD
rs373078234 CA10099278	916	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs782796094 CA10099275	918	Y>N		No	ClinGen ExAC gnomAD
CA10099274 rs782550957	919	L>V		No	ClinGen ExAC gnomAD
CA10099273 rs781788032	921	N>K		No	ClinGen ExAC gnomAD
TCGA novel	924	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1251467836 CA410640123	925	A>T		No	ClinGen TOPMed
CA321373533 rs760656913	925	A>V		No	ClinGen TOPMed
CA410640090 rs1556011503	927	L>F		No	ClinGen gnomAD
CA410640073 rs1601811121	928	T>P		No	ClinGen Ensembl
rs1601811118 CA410639995	931	S>P		No	ClinGen Ensembl
CA410639913 rs1601811101	935	Y>S		No	ClinGen Ensembl
rs782770518 CA10099269	936	R>C		No	ClinGen ExAC gnomAD
rs782037801 CA10099267	936	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782037801 CA10099268	936	R>L		No	ClinGen ExAC TOPMed gnomAD
rs782037801 CA410639893	936	R>P		No	ClinGen ExAC TOPMed gnomAD
CA10099266 rs782319516	937	H>Y		No	ClinGen ExAC gnomAD
rs542218345 CA10099265	940	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA410639831 rs1601811069	940	L>P		No	ClinGen Ensembl
rs376107981 CA10099263	941	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs782651433 CA410639778	943	A>S		No	ClinGen ExAC TOPMed gnomAD
CA10099261 rs782651433	943	A>T		No	ClinGen ExAC TOPMed gnomAD
rs775528302 CA10099260	943	A>V		No	ClinGen ExAC TOPMed gnomAD
CA410639770 rs1556011459	944	R>Q		No	ClinGen gnomAD
CA10099258 rs556771937	944	R>W		No	ClinGen 1000Genomes ExAC gnomAD
RCV000914499 COSM173489 CA10099257 rs782473677	947	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA321373471 rs151004588	949	E>K		No	ClinGen ESP TOPMed gnomAD
rs782669615 CA410639251	954	R>L		No	ClinGen ExAC TOPMed gnomAD
rs782669615 CA10099228	954	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1556010851 CA410639184	956	R>Q		No	ClinGen gnomAD
CA410639101 rs1556010848	958	I>L		No	ClinGen gnomAD
CA410639085 rs1556010846	958	I>T		No	ClinGen gnomAD
rs1556010845 CA410638987	960	K>R		No	ClinGen gnomAD
CA410638936 rs1556010841	962	L>F		No	ClinGen gnomAD
CA410638782 rs1556010832	967	H>Y		No	ClinGen gnomAD
rs1556010828 CA410638768	968	Y>S		No	ClinGen Ensembl
rs1365953754 CA410638744	969	S>Y		No	ClinGen TOPMed
rs1556010821 CA410638718	971	G>E		No	ClinGen gnomAD
CA410638721 rs1388844561	971	G>R		No	ClinGen TOPMed
CA10099226 rs781795808	973	Q>R		No	ClinGen ExAC gnomAD
rs1350387045 CA410638473	979	V>G		No	ClinGen TOPMed
CA410633870 COSM4137319 rs1556004629	980	G>C	ovary [Cosmic]	No	ClinGen cosmic curated gnomAD
rs200311539 CA410633846	982	R>P		No	ClinGen ExAC TOPMed gnomAD
rs200311539 CA10099207	982	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA410633851 rs1556004628	982	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA410633649 rs1556004621	989	E>D		No	ClinGen gnomAD
rs782621418 CA10099206	989	E>Q		No	ClinGen ExAC gnomAD
rs782492568 CA10099205	991	L>I		No	ClinGen ExAC gnomAD
rs781863855 CA10099204	991	L>P		No	ClinGen ExAC gnomAD
TCGA novel	995	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1601790178 CA410633494	997	N>T		No	ClinGen Ensembl
CA10099200 rs531131360	999	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA10099199 rs782078893	1000	F>L		No	ClinGen ExAC gnomAD
rs1556004608 CA410633378	1002	R>H		No	ClinGen gnomAD
CA10099196 rs782150169	1011	L>P		No	ClinGen ExAC gnomAD
rs372378827 CA10099194	1012	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1320641684 CA410633156	1015	R>G		No	ClinGen TOPMed
CA410633148 rs1219239784	1015	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA410633150 rs1219239784	1015	R>T		No	ClinGen TOPMed gnomAD
rs781958890 CA10099192	1016	D>E		No	ClinGen ExAC TOPMed gnomAD
CA410633109 rs1556004595	1018	K>Q		No	ClinGen gnomAD

No associated diseases with P54198

2 regional properties for P54198

Type	Name	Position	InterPro Accession
domain	JmjC domain	102 - 231	IPR003347
domain	ROXA-like, winged helix	276 - 393	IPR046799

Functions

		Description
EC Number
Subcellular Localization	Nucleus Nucleus, PML body	Primarily, though not exclusively, localized to the nucleus Localizes to PML bodies immediately prior to onset of senescence
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
HIR complex	A protein complex proposed to be involved in replication-independent nucleosome assembly, by promoting histone deposition onto DNA. For example, in Saccharomyces, the complex contains Hir1p, Hir2p, Hir3p, and Hpc2p.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
PML body	A class of nuclear body; they react against SP100 auto-antibodies (PML, promyelocytic leukemia); cells typically contain 10-30 PML bodies per nucleus; alterations in the localization of PML bodies occurs after viral infection.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.

3 GO annotations of molecular function

Name	Definition
histone binding	Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription.
RNA polymerase II-specific DNA-binding transcription factor binding	Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription.
transcription corepressor activity	A transcription coregulator activity that represses or decreases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators.

5 GO annotations of biological process

Name	Definition
anatomical structure morphogenesis	The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form.
gastrulation	A complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm.
muscle cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of a muscle cell.
osteoblast differentiation	The process whereby a relatively unspecialized cell acquires the specialized features of an osteoblast, a mesodermal or neural crest cell that gives rise to bone.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MKLLKPTWVN	HNGKPIFSVD	IHPDGTKFAT	GGQGQDSGKV	VIWNMSPVLQ	EDDEKDENIP
70	80	90	100	110	120
KMLCQMDNHL	ACVNCVRWSN	SGMYLASGGD	DKLIMVWKRA	TYIGPSTVFG	SSGKLANVEQ
130	140	150	160	170	180
WRCVSILRNH	SGDVMDVAWS	PHDAWLASCS	VDNTVVIWNA	VKFPEILATL	RGHSGLVKGL
190	200	210	220	230	240
TWDPVGKYIA	SQADDRSLKV	WRTLDWQLET	SITKPFDECG	GTTHVLRLSW	SPDGHYLVSA
250	260	270	280	290	300
HAMNNSGPTA	QIIEREGWKT	NMDFVGHRKA	VTVVKFNPKI	FKKKQKNGSS	AKPSCPYCCC
310	320	330	340	350	360
AVGSKDRSLS	VWLTCLKRPL	VVIHELFDKS	IMDISWTLNG	LGILVCSMDG	SVAFLDFSQD
370	380	390	400	410	420
ELGDPLSEEE	KSRIHQSTYG	KSLAIMTEAQ	LSTAVIENPE	MLKYQRRQQQ	QQLDQKSAAT
430	440	450	460	470	480
REMGSATSVA	GVVNGESLED	IRKNLLKKQV	ETRTADGRRR	ITPLCIAQLD	TGDFSTAFFN
490	500	510	520	530	540
SIPLSGSLAG	TMLSSHSSPQ	LLPLDSSTPN	SFGASKPCTE	PVVAASARPA	GDSVNKDSMN
550	560	570	580	590	600
ATSTPAALSP	SVLTTPSKIE	PMKAFDSRFT	ERSKATPGAP	ALTSMTPTAV	ERLKEQNLVK
610	620	630	640	650	660
ELRPRDLLES	SSDSDEKVPL	AKASSLSKRK	LELEVETVEK	KKKGRPRKDS	RLMPVSLSVQ
670	680	690	700	710	720
SPAALTAEKE	AMCLSAPALA	LKLPIPSPQR	AFTLQVSSDP	SMYIEVENEV	TVVGGVKLSR
730	740	750	760	770	780
LKCNREGKEW	ETVLTSRILT	AAGSCDVVCV	ACEKRMLSVF	STCGRRLLSP	ILLPSPISTL
790	800	810	820	830	840
HCTGSYVMAL	TAAATLSVWD	VHRQVVVVKE	ESLHSILAGS	DMTVSQILLT	QHGIPVMNLS
850	860	870	880	890	900
DGKAYCFNPS	LSTWNLVSDK	QDSLAQCADF	RSSLPSQDAM	LCSGPLAIIQ	GRTSNSGRQA
910	920	930	940	950	960
ARLFSVPHVV	QQETTLAYLE	NQVAAALTLQ	SSHEYRHWLL	VYARYLVNEG	FEYRLREICK
970	980	990	1000	1010
DLLGPVHYST	GSQWESTVVG	LRKRELLKEL	LPVIGQNLRF	QRLFTECQEQ	LDILRDK