AiPD: Autoinhibited Protein Database

Q99856

Gene name	ARID3A (DRIL1, DRIL3, DRX, E2FBP1)
Protein name	AT-rich interactive domain-containing protein 3A
Names	ARID domain-containing protein 3A, B-cell regulator of IgH transcription, Bright, Dead ringer-like protein 1, E2F-binding protein 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1820
EC number
Protein Class

Descriptions

RFX1 is a transcription factor which may be involved in the control of cell cycle progression by the RB1/E2F1 pathway and in B-cell differentiation. This protein possesses intrinsically disordered regions (IDRs) with large negative charge, some of which involve a consecutive sequence of aspartate (D) or glutamate (E) residues, known as D/E repeats. These D/E repeats can cause autoinhibition through intramolecular electrostatic interaction with HMG boxes and modulate binding to DNA. This autoinhibited state can transition into the uninhibited complex with DNA through an electrostatically driven induced-fit process, which accelerates the target DNA search kinetics in the presence of non-functional high-affinity ligands ('decoys').

Autoinhibitory domains (AIDs)

138-157 (D/E repeat) SS

Target domain	238-331 (DNA-binding domain)
Relief mechanism
Assay

AID

138-157 (D/E repeat)

Target domain

238-331 (DNA-binding domain)

Relief mechanism

Assay

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 Q99856

Entry ID	Method	Resolution	Chain	Position	Source
2KK0	NMR	-	A	218-351	PDB
4LJX	X-ray	221 A	A/B	216-351	PDB
AF-Q99856-F1	Predicted				AlphaFoldDB

523 variants for Q99856

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1484338581 CA402920942	5	A>S		No	ClinGen gnomAD
CA402920962 rs1599379100	6	V>G		No	ClinGen Ensembl
rs1384979178 CA402921001	9	T>M		No	ClinGen gnomAD
CA9028944 rs775391208	16	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1157683802 CA402921072	16	R>W		No	ClinGen gnomAD
CA9028945 rs762575709	17	A>V		No	ClinGen ExAC TOPMed gnomAD
CA402921092 rs1381759794	18	R>C		No	ClinGen gnomAD
CA9028946 rs763786581	18	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1351255252 CA402921120	20	E>G		No	ClinGen gnomAD
rs773745826 CA303967318	24	R>G		No	ClinGen ExAC TOPMed gnomAD
rs972745936 CA402921159	24	R>L		No	ClinGen TOPMed gnomAD
CA303967319 rs972745936	24	R>Q		No	ClinGen TOPMed gnomAD
CA9028947 rs773745826	24	R>W		No	ClinGen ExAC TOPMed gnomAD
CA402921195 rs1282267735	27	L>R		No	ClinGen gnomAD
rs1160823369 CA402921203	28	P>L		No	ClinGen TOPMed
CA402921200 rs1242994523	28	P>S		No	ClinGen gnomAD
CA9028948 rs761318578	29	P>L		No	ClinGen ExAC TOPMed gnomAD
CA9028949 rs3746143	30	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9028950 rs3746143	30	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs920210954 CA303967336	31	P>T		No	ClinGen TOPMed gnomAD
CA303967346 rs760005633	32	P>S		No	ClinGen ExAC TOPMed gnomAD
rs760005633 CA9028951	32	P>T		No	ClinGen ExAC TOPMed gnomAD
CA402921248 rs1339384384	33	A>P		No	ClinGen gnomAD
CA402921252 rs1405142146	33	A>V		No	ClinGen gnomAD
rs765638846 CA402921261	34	A>G		No	ClinGen ExAC TOPMed gnomAD
CA9028952 rs765638846	34	A>V		No	ClinGen ExAC TOPMed gnomAD
CA402921274 rs1404830450	35	P>L		No	ClinGen gnomAD
CA402921265 rs1207997767	35	P>S		No	ClinGen TOPMed
rs1207997767 CA402921268	35	P>T		No	ClinGen TOPMed
CA402921277 rs1270074412	36	P>A		No	ClinGen TOPMed
rs17857499 CA303967352 VAR_033203	36	P>H		No	ClinGen UniProt ExAC dbSNP gnomAD
rs17857499 CA9028954	36	P>R		No	ClinGen ExAC gnomAD
CA402921279 rs1270074412	36	P>S		No	ClinGen TOPMed
CA402921288 rs3746142	37	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9028956 rs3746142	37	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757309861 CA303967388	38	R>P		No	ClinGen ExAC TOPMed gnomAD
rs757309861 CA9028958	38	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs372928434 CA9028957	38	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1391556382 CA402921305	39	A>S		No	ClinGen TOPMed
CA9028960 rs745854452	40	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9028959 rs566450902	40	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs901576100 CA303967393	41	A>P		No	ClinGen TOPMed gnomAD
CA402921323 rs901576100	41	A>T		No	ClinGen TOPMed gnomAD
rs1321621039 CA402921328	41	A>V		No	ClinGen TOPMed gnomAD
rs984404034 CA303967394	42	A>P		No	ClinGen TOPMed gnomAD
CA402921340 rs1274124719	42	A>V		No	ClinGen gnomAD
CA402921350 rs1180277346	43	P>L		No	ClinGen gnomAD
rs780064122 CA9028962	43	P>S		No	ClinGen ExAC TOPMed gnomAD
rs780064122 CA402921342	43	P>T		No	ClinGen ExAC TOPMed gnomAD
rs533592758 CA402921365	44	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA303967415 rs865967345	44	D>G		No	ClinGen Ensembl
CA9028964 rs768209693	44	D>N		No	ClinGen ExAC gnomAD
rs761261637 CA9028966	45	E>K		No	ClinGen ExAC TOPMed gnomAD
rs761261637 CA9028967	45	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs772686733 CA9028968	47	R>I		No	ClinGen ExAC
CA402921403 rs1172618028	48	E>*		No	ClinGen gnomAD
CA9028969 rs760093392	49	P>A		No	ClinGen ExAC
rs753006514 CA402921431	50	E>*		No	ClinGen ExAC gnomAD
CA9028971 rs753006514	50	E>K		No	ClinGen ExAC gnomAD
rs1351494358 CA402921449	51	S>I		No	ClinGen gnomAD
CA402921452 rs1405658944	52	A>S		No	ClinGen gnomAD
rs1340380238 CA402921456	52	A>V		No	ClinGen TOPMed
rs201419429 CA9028974	53	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9028973 rs764241109	53	R>W		No	ClinGen ExAC TOPMed gnomAD
CA402921468 rs1271203326	54	M>I		No	ClinGen gnomAD
CA9028975 rs757518273	54	M>R		No	ClinGen ExAC TOPMed gnomAD
rs1395992590 CA402921473	55	Q>R		No	ClinGen TOPMed
CA303967479 rs1036213275	56	R>Q		No	ClinGen TOPMed gnomAD
rs781483243 CA9028976	56	R>W		No	ClinGen ExAC TOPMed gnomAD
CA402921482 rs1490645828	57	A>S		No	ClinGen gnomAD
rs1222642121 CA402921490	58	Q>R		No	ClinGen gnomAD
CA9028979 rs780084740	61	A>T		No	ClinGen ExAC TOPMed gnomAD
CA9028980 rs749060364	62	L>V		No	ClinGen ExAC TOPMed gnomAD
rs565542220 CA402921527	64	A>D		No	ClinGen ExAC TOPMed gnomAD
rs565542220 CA303967503	64	A>G		No	ClinGen ExAC TOPMed gnomAD
rs565542220 CA9028981	64	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel rs1423226940 CA402921535	65	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed
rs778542537 CA9028982	65	M>K		No	ClinGen ExAC gnomAD
CA303967511 rs865909266	66	R>L		No	ClinGen TOPMed gnomAD
rs865909266 CA303967513	66	R>Q		No	ClinGen TOPMed gnomAD
CA9028983 rs747883380	66	R>W		No	ClinGen ExAC TOPMed gnomAD
CA9028985 rs772774665	67	A>T		No	ClinGen ExAC gnomAD
rs1401846810 CA402921542	67	A>V		No	ClinGen gnomAD
rs760109900 CA9028986	68	A>T		No	ClinGen ExAC TOPMed gnomAD
CA303967518 rs1026903484	68	A>V		No	ClinGen TOPMed gnomAD
CA9028987 rs770296331	70	A>V		No	ClinGen ExAC TOPMed gnomAD
rs985649822 CA303967522	71	G>D		No	ClinGen TOPMed gnomAD
rs1290486699 CA402921564	72	L>M		No	ClinGen gnomAD
rs774570726 CA9028992	73	G>*		No	ClinGen ExAC gnomAD
TCGA novel	73	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9028991 rs774570726	73	G>R		No	ClinGen ExAC gnomAD
rs767784999 CA9028993	74	H>Q		No	ClinGen ExAC gnomAD
rs756215696 CA9028995	75	P>L		No	ClinGen ExAC TOPMed gnomAD
rs756215696 CA9028996	75	P>R		No	ClinGen ExAC TOPMed gnomAD
CA9028994 rs750546639	75	P>T		No	ClinGen ExAC gnomAD
rs923050266 CA303967557	76	A>T		No	ClinGen TOPMed
CA402921586 rs1244732487	76	A>V		No	ClinGen gnomAD
rs1445231636 CA402921591	77	S>N		No	ClinGen gnomAD
CA402921606 rs1383238230	78	P>H		No	ClinGen gnomAD
CA9029001 rs116393241	79	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1384577937 CA402921615	79	G>D		No	ClinGen TOPMed gnomAD
rs116393241 CA402921612	79	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000965412 CA9029000 rs116393241	79	G>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA402921628 rs1383988513	80	G>D		No	ClinGen gnomAD
CA9029002 rs777347924	80	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1383988513 CA402921626	80	G>V		No	ClinGen gnomAD
CA402921639 rs1452292676	81	S>F		No	ClinGen gnomAD
CA402921633 rs1251214921	81	S>T		No	ClinGen TOPMed
CA402921649 rs1240607634	82	E>G		No	ClinGen gnomAD
CA402921641 rs1356411784	82	E>K		No	ClinGen gnomAD
CA9029004 rs770384410	83	D>G		No	ClinGen ExAC gnomAD
rs1260776110 CA402921659	83	D>N		No	ClinGen gnomAD
CA9029006 rs749846450	84	G>E		No	ClinGen ExAC
CA9029005 rs528482891	84	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1265689894 CA402921682	85	P>L		No	ClinGen TOPMed
CA9029008 rs769043677	85	P>T		No	ClinGen ExAC TOPMed gnomAD
CA9029009 rs774786700	86	P>A		No	ClinGen ExAC TOPMed gnomAD
CA9029010 rs762212890	86	P>L		No	ClinGen ExAC TOPMed gnomAD
rs774786700 CA402921686	86	P>S		No	ClinGen ExAC TOPMed gnomAD
CA402921699 rs1182685148	87	G>D		No	ClinGen gnomAD
rs1420775177 CA402921694	87	G>R		No	ClinGen gnomAD
CA303967635 rs370403414	88	S>L		No	ClinGen ExAC TOPMed
CA9029011 rs370403414	88	S>W		No	ClinGen ExAC TOPMed
CA402921723 rs1451989551	90	E>K		No	ClinGen TOPMed gnomAD
rs1407038830 CA402921743	91	E>G		No	ClinGen gnomAD
rs1376223527 CA402921771	93	A>E		No	ClinGen TOPMed gnomAD
COSM3357229 rs375623283 CA9029014	93	A>T	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA402921774 rs1376223527	93	A>V		No	ClinGen TOPMed gnomAD
CA402921789 rs755008780	95	R>G		No	ClinGen ExAC TOPMed gnomAD
rs765015703 CA9029018	95	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9029017 rs755008780	95	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1411298200 CA402921806	96	E>D		No	ClinGen TOPMed
rs752500578 CA402921796	96	E>K		No	ClinGen ExAC TOPMed gnomAD
rs752500578 CA9029019	96	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs375496194 CA9029021	99	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs375496194 CA402921837	99	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402921831 rs1202844303	99	P>S		No	ClinGen gnomAD
rs1196301677 CA402921841	100	G>R		No	ClinGen gnomAD
rs925892527 CA303967682	102	P>A		No	ClinGen TOPMed gnomAD
CA9029023 rs756833434	103	G>R		No	ClinGen ExAC TOPMed gnomAD
rs756833434 CA402921872	103	G>W		No	ClinGen ExAC TOPMed gnomAD
rs934605415 CA303967693	104	R>Q		No	ClinGen gnomAD
CA402921891 rs1480218334	105	G>D		No	ClinGen gnomAD
rs200325004 CA9029025	106	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1462752427 CA402921901	106	R>I		No	ClinGen gnomAD
rs1394905517 CA402921937	109	P>R		No	ClinGen gnomAD
rs1407488749 CA402921949	110	G>V		No	ClinGen gnomAD
rs1284612476 CA402921966	112	E>A		No	ClinGen gnomAD
CA402921970 rs1345807601	112	E>D		No	ClinGen gnomAD
CA402921974 rs1222509748	113	H>Y		No	ClinGen TOPMed gnomAD
rs1299010844 CA402922013	116	D>N		No	ClinGen gnomAD
CA402922034 rs1227822470	117	M>T		No	ClinGen gnomAD
CA402922029 rs1232118450	117	M>V		No	ClinGen TOPMed
TCGA novel	118	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	119	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402922060 rs187709308	120	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9029027 rs187709308	120	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9029029 rs772606131	121	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs201922730 CA402922098	123	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9029031 rs371181848	123	M>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201922730 CA9029030	123	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1381897611 CA402923154	126	K>Q		No	ClinGen TOPMed gnomAD
rs776667346 CA9029051	127	W>*		No	ClinGen ExAC
TCGA novel	129	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775520957 CA9029054	130	E>D		No	ClinGen ExAC TOPMed gnomAD
rs199594401 CA9029053	130	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA402923280 rs1462947351	132	M>V		No	ClinGen gnomAD
rs750083906 CA9029061	137	G>A		No	ClinGen ExAC TOPMed gnomAD
CA9029058 rs546907163	137	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9029060 rs750083906	137	G>V		No	ClinGen ExAC TOPMed gnomAD
CA9029059 rs546907163	137	G>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1408886070 CA402923371	138	E>D		No	ClinGen TOPMed
rs779769476 CA9029066	139	D>E		No	ClinGen ExAC
rs1179167918 CA402923372	139	D>N		No	ClinGen TOPMed
CA303970408 rs1054875210	140	E>K		No	ClinGen Ensembl
TCGA novel	141	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1157927357 CA402923499	145	E>K		No	ClinGen gnomAD
rs747420465 CA9029071	147	Y>C		No	ClinGen ExAC gnomAD
CA9029070 rs778366147	147	Y>D		No	ClinGen ExAC gnomAD
CA9029075 rs71335278	148	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs71335278 CA303970439	148	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA9029079 rs1347225312	149	D>E		No	ClinGen TOPMed
CA402923585 rs1281415177	149	D>N		No	ClinGen gnomAD
CA9029083 rs201472856	150	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA402923607 rs1568355559	150	E>K		No	ClinGen Ensembl
rs775610546 CA9029084	151	E>V		No	ClinGen ExAC gnomAD
rs1325884054 CA402923662	152	E>D		No	ClinGen gnomAD
CA9029085 rs141023843	152	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA9029086 rs141023843	152	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA402923687 rs1204761231	154	E>K		No	ClinGen gnomAD
CA9029088 CA402923727 rs565227251	155	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402923712 rs1568355573	155	D>N		No	ClinGen Ensembl
CA402923738 rs1568355580	156	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1441257850 CA402923775	157	E>D		No	ClinGen TOPMed gnomAD
CA402923785 rs1599383282	158	G>A		No	ClinGen Ensembl
CA9029089 rs767267079	158	G>W		No	ClinGen ExAC gnomAD
CA402923828 rs1486447970	160	G>D		No	ClinGen TOPMed
rs1019560008 CA303970532	161	P>T		No	ClinGen Ensembl
CA402923857 rs1409362708	162	P>L		No	ClinGen TOPMed gnomAD
rs754487740 CA9029094	165	A>G		No	ClinGen ExAC TOPMed gnomAD
rs753412215 CA9029093	165	A>P		No	ClinGen ExAC gnomAD
CA402923902 rs754487740	165	A>V		No	ClinGen ExAC TOPMed gnomAD
CA303970553 rs1044805119	170	T>A		No	ClinGen TOPMed
CA303970557 rs773573379	170	T>M		No	ClinGen TOPMed gnomAD
rs61735587 CA9029097	171	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402924024 rs1224344789	173	F>L		No	ClinGen gnomAD
rs570019877 CA9029099	174	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs570019877 CA402924028	174	P>T		No	ClinGen 1000Genomes ExAC gnomAD
CA402924044 rs1343326860	175	R>*		No	ClinGen gnomAD
TCGA novel	175	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402924045 rs1216637592	175	R>Q		No	ClinGen TOPMed gnomAD
rs537575733 CA303970567	176	K>E		No	ClinGen 1000Genomes
rs990078382 CA402924064	176	K>N		No	ClinGen TOPMed
CA402924108 rs1267782468	179	P>L		No	ClinGen TOPMed
rs995146387 CA303970593	181	Q>P		No	ClinGen TOPMed
CA9029101 rs756346008	182	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9029103 rs749403652	184	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9029104 rs201690655	184	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402924170 rs749403652	184	R>S		No	ClinGen ExAC TOPMed gnomAD
rs911982273 CA303970630	185	G>S		No	ClinGen TOPMed gnomAD
CA9029106 rs534929571	186	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs534929571 CA303970635	186	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9029107 rs772042824	187	G>D		No	ClinGen ExAC gnomAD
CA303970649 rs927823241	188	V>I		No	ClinGen TOPMed gnomAD
rs1302798263 CA402924212	190	R>G		No	ClinGen gnomAD
CA402924225 rs1483911661	190	R>S		No	ClinGen gnomAD
rs1175029513 CA402924234	191	V>A		No	ClinGen gnomAD
CA303970666 rs939166353	191	V>L		No	ClinGen TOPMed gnomAD
CA402924227 rs939166353	191	V>M		No	ClinGen TOPMed gnomAD
rs1226601752 CA402924259	194	G>D		No	ClinGen TOPMed
CA402924280 rs1381950584	196	E>K		No	ClinGen TOPMed
CA402924298 rs373775705	197	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9029108 rs373775705	197	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs894864274 CA303970676	197	R>W		No	ClinGen TOPMed gnomAD
rs760487324 CA9029109	198	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1360994837 CA402924304	198	P>S		No	ClinGen gnomAD
rs886087583 CA303970712	199	G>V		No	ClinGen TOPMed
CA9029110 rs766151255	200	P>L		No	ClinGen ExAC gnomAD
rs766151255 CA402924335	200	P>R		No	ClinGen ExAC gnomAD
rs1433004905 CA402924340	201	G>R		No	ClinGen gnomAD
rs35228814 CA303970718	202	P>S		No	ClinGen gnomAD
CA402924375 rs1448864737	204	H>D		No	ClinGen TOPMed gnomAD
CA402924381 rs1599383596	204	H>P		No	ClinGen Ensembl
CA402924377 rs1448864737	204	H>Y		No	ClinGen TOPMed gnomAD
rs776380486 CA9029111	206	G>R		No	ClinGen ExAC TOPMed gnomAD
CA402924409 rs1388905828	207	G>R		No	ClinGen gnomAD
CA402924435 rs1319468213	209	A>T		No	ClinGen gnomAD
CA402924460 rs577924521	211	V>I		No	ClinGen 1000Genomes TOPMed gnomAD
CA303970764 rs577924521	211	V>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs111301205 CA402924476	212	A>D		No	ClinGen gnomAD
rs111301205 CA303970768	212	A>V		No	ClinGen gnomAD
CA303970774 rs538210190	213	P>L		No	ClinGen 1000Genomes TOPMed
CA402924491 rs1353894208	214	Q>*		No	ClinGen gnomAD
CA402924494 rs1206526401	214	Q>P		No	ClinGen gnomAD
CA402924502 rs1284444131	215	L>M		No	ClinGen TOPMed gnomAD
rs367623103 CA9029114	217	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA303970791 rs763395935	217	P>S		No	ClinGen Ensembl
rs757767143 CA9029116	221	G>D		No	ClinGen ExAC TOPMed gnomAD
CA402924573 rs1445144445	221	G>S		No	ClinGen gnomAD
rs1036013642 CA303970800	222	D>N		No	ClinGen TOPMed gnomAD
CA402924585 rs1036013642	222	D>Y		No	ClinGen TOPMed gnomAD
CA303995134 rs777850746	232	L>H		No	ClinGen Ensembl
CA9029139 rs761152181	234	E>K		No	ClinGen ExAC gnomAD
CA402927526 rs766789167	235	L>F		No	ClinGen ExAC gnomAD
rs766789167 CA9029140	235	L>I		No	ClinGen ExAC gnomAD
rs766789167 CA9029141	235	L>V		No	ClinGen ExAC gnomAD
rs970653088 CA303995167	236	D>E		No	ClinGen TOPMed gnomAD
CA402927534 rs779139236	236	D>H		No	ClinGen ExAC TOPMed gnomAD
CA9029143 rs779139236 COSM1172696	236	D>N	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA9029144 rs752740985	237	G>R		No	ClinGen ExAC gnomAD
CA402927561 rs1412807882	238	D>G		No	ClinGen TOPMed
CA402927553 rs1407389507	238	D>H		No	ClinGen gnomAD
rs769342047 CA9029151	246	D>N		No	ClinGen ExAC gnomAD
CA402927718 rs1292824667	250	S>R		No	ClinGen gnomAD
rs972773194 CA303995210	253	Q>E		No	ClinGen Ensembl
CA402928586 rs1405866299	258	P>R		No	ClinGen TOPMed
CA303999008 rs868683152	261	R>H		No	ClinGen Ensembl
CA303999015 rs866993552	263	P>S		No	ClinGen Ensembl
TCGA novel	269	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402928790 rs1346552034	274	M>I		No	ClinGen gnomAD
rs1235008185 CA402928783	274	M>V		No	ClinGen TOPMed
rs749030700 CA402928806	277	V>L		No	ClinGen ExAC TOPMed gnomAD
rs749030700 CA9029170	277	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	278	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1454504887 CA402928827	280	T>M		No	ClinGen gnomAD
CA9029173 rs747600455	286	V>L		No	ClinGen ExAC TOPMed gnomAD
rs866421579 CA303999070	288	V>G		No	ClinGen Ensembl
CA402928875 rs1228218964	288	V>I		No	ClinGen gnomAD
CA402928953 rs1266612874	299	K>E		No	ClinGen gnomAD
rs1463104251 CA402928963	300	G>D		No	ClinGen gnomAD
rs1482658281 CA402928994	305	T>M		No	ClinGen gnomAD
rs759927569 CA9029176	306	S>F		No	ClinGen ExAC gnomAD
rs17857501 VAR_033204 CA303999657	320	K>E		No	ClinGen UniProt Ensembl dbSNP
CA402929134 rs1323062149	324	P>L		No	ClinGen gnomAD
rs1433264132 CA402929155	327	C>Y		No	ClinGen gnomAD
CA303999688 rs774570359	330	R>Q		No	ClinGen TOPMed gnomAD
COSM1004329 rs145361495 CA9029215	330	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA402929185 rs1227095806	331	G>S		No	ClinGen gnomAD
rs934402938 CA303999693	332	L>F		No	ClinGen Ensembl
CA9029217 rs368350530	336	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs368350530 CA9029216	336	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1183749059 CA402929249	337	E>Q		No	ClinGen gnomAD
rs1449679620 CA402929310	342	I>V		No	ClinGen TOPMed gnomAD
CA9029220 rs766373330	344	S>G		No	ClinGen ExAC gnomAD
CA9029222 rs759445593	350	R>Q		No	ClinGen ExAC gnomAD
rs752484238 CA9029224	351	R>C		No	ClinGen ExAC gnomAD
CA9029225 rs758046272	351	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1162910979 CA402929450	353	S>R		No	ClinGen gnomAD
CA9029226 rs777228150	354	F>V		No	ClinGen ExAC TOPMed gnomAD
CA9029227 rs751100042	359	F>L		No	ClinGen ExAC gnomAD
rs756678274 CA9029228	361	Y>C		No	ClinGen ExAC gnomAD
CA9029230 rs372075149	362	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1341760308 CA402929557	363	P>T		No	ClinGen gnomAD
CA402929575 rs1283271334	364	G>D		No	ClinGen gnomAD
rs779427974 CA9029232	364	G>R		No	ClinGen ExAC gnomAD
rs773267886 CA9029235	365	G>E		No	ClinGen ExAC gnomAD
COSM1398251 CA9029234 rs538606329	365	G>R	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1206752922 CA402929602	367	H>Y		No	ClinGen TOPMed gnomAD
rs868103098 CA303999897	368	G>D		No	ClinGen Ensembl
rs143163296 CA9029238	368	G>R		No	ClinGen ESP ExAC gnomAD
rs143163296 CA402929613	368	G>S		No	ClinGen ESP ExAC gnomAD
rs1046566620 CA303999898	372	S>L		No	ClinGen TOPMed
CA303999900 rs891123182	373	P>S		No	ClinGen TOPMed gnomAD
CA9029241 rs752498725	377	V>M		No	ClinGen ExAC TOPMed gnomAD
rs375909439 CA402929773	381	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA9029242 rs375909439	381	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA9029244 rs751208667	382	L>P		No	ClinGen ExAC gnomAD
rs763836736 CA9029243	382	L>V		No	ClinGen ExAC gnomAD
CA402929791 rs1262697969	383	A>G		No	ClinGen TOPMed
CA402929786 rs1333117894	383	A>S		No	ClinGen gnomAD
rs749890340 CA9029247	384	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1288498751 CA402929816	385	S>I		No	ClinGen gnomAD
CA9029248 rs575203453	386	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA402929841 rs12608658 CA402929842	387	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	387	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779513674 CA9029249	387	N>S		No	ClinGen ExAC gnomAD
CA9029251 rs758731649	388	G>S		No	ClinGen ExAC gnomAD
rs778179350 CA9029252	389	S>I		No	ClinGen ExAC gnomAD
CA402929863 rs1599424557	389	S>R		No	ClinGen Ensembl
rs747251396 CA9029253	390	S>C		No	ClinGen ExAC gnomAD
rs747251396 CA402929873	390	S>F		No	ClinGen ExAC gnomAD
CA9029254 rs771180105	391	I>V		No	ClinGen ExAC gnomAD
rs745885970 CA9029256	392	T>N		No	ClinGen ExAC gnomAD
CA9029255 rs776697309	392	T>P		No	ClinGen ExAC gnomAD
rs1436581385 CA402929900	393	P>S		No	ClinGen TOPMed
rs147399288 CA402929908	394	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs147399288 COSM1004330 CA9029258	394	A>T	endometrium skin [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA9029259 rs762844219	394	A>V		No	ClinGen ExAC gnomAD
rs1373230182 CA402929921	395	P>H		No	ClinGen gnomAD
CA402929919 rs1171560627	395	P>S		No	ClinGen gnomAD
rs763856062 CA9029260	397	I>V		No	ClinGen ExAC gnomAD
rs1414835402 CA402929968	398	K>R		No	ClinGen TOPMed
CA304000912 rs975933739	400	E>V		No	ClinGen TOPMed
rs1391347278 CA402930818	402	D>V		No	ClinGen gnomAD
CA9029273 rs145850291	404	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9029275 rs375227599	406	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA402930840 rs375227599	406	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1340053626 CA402930849	407	I>T		No	ClinGen gnomAD
rs1297155248 CA402930845	407	I>V		No	ClinGen gnomAD
CA9029277 rs768575143	408	T>P		No	ClinGen ExAC gnomAD
CA9029279 rs761624925	409	V>A		No	ClinGen ExAC gnomAD
rs774034068 CA9029278	409	V>I		No	ClinGen ExAC gnomAD
rs767107570 CA9029280	411	G>D		No	ClinGen ExAC gnomAD
CA402930868 rs1450497130	411	G>R		No	ClinGen gnomAD
rs143073569 CA9029281	412	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs368267576 CA9029282	412	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9029284 rs753391986	414	P>S		No	ClinGen ExAC gnomAD
rs1457306707 CA402930886	415	V>M		No	ClinGen gnomAD
rs1045674988 CA304001030	417	L>R		No	ClinGen TOPMed gnomAD
rs751888436 CA9029287	418	A>V		No	ClinGen ExAC TOPMed gnomAD
CA402930924 rs1354051547	421	P>L		No	ClinGen TOPMed
rs1313484710 CA402930931	422	V>G		No	ClinGen gnomAD
CA402930933 rs1231936611	423	V>M		No	ClinGen gnomAD
CA402930950 rs1599426737	425	A>G		No	ClinGen Ensembl
CA402930954 rs1599426741	426	Q>P		No	ClinGen Ensembl
CA9029290 rs750690353	428	A>S		No	ClinGen ExAC TOPMed gnomAD
rs937201928 CA304001109	429	A>T		No	ClinGen TOPMed gnomAD
CA402930976 rs1208481657	430	V>L		No	ClinGen gnomAD
rs1484670654 CA402930982	431	Q>E		No	ClinGen gnomAD
rs756327494 CA9029291	432	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1331176469 CA402930998	433	A>G		No	ClinGen TOPMed
CA402931008 rs1422739050	435	A>T		No	ClinGen TOPMed gnomAD
rs1162617457 CA402931011	435	A>V		No	ClinGen gnomAD
rs999477648 CA304001119	436	Q>R		No	ClinGen TOPMed gnomAD
rs1457754865 CA402931030	438	A>V		No	ClinGen gnomAD
rs1343252018 CA402931034	439	V>A		No	ClinGen gnomAD
CA9029293 rs749335471 COSM1189739	439	V>M	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA402931043 rs995627264	441	A>S		No	ClinGen TOPMed gnomAD
CA304001138 rs995627264	441	A>T		No	ClinGen TOPMed gnomAD
CA9029295 rs778870269	443	A>T		No	ClinGen ExAC TOPMed gnomAD
CA402931059 rs1290357880	443	A>V		No	ClinGen gnomAD
rs1282545796 CA402931089	448	Q>R		No	ClinGen gnomAD
rs886770931 CA304001148	449	L>V		No	ClinGen Ensembl
CA9029299 rs371676089	450	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs773129754 CA9029298	450	R>W		No	ClinGen ExAC TOPMed gnomAD
CA402931100 rs1185137227	451	E>K		No	ClinGen gnomAD
rs1181396793 CA402931131	455	S>A		No	ClinGen TOPMed gnomAD
CA9029303 rs548635209	459	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs548635209 CA402931159	459	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9029308 rs756345868	466	V>A		No	ClinGen ExAC gnomAD
CA9029307 rs750722798	466	V>L		No	ClinGen ExAC gnomAD
rs772160745 CA9029309	467	A>T		No	ClinGen ExAC
rs1220171155 CA402931218	468	D>E		No	ClinGen gnomAD
CA9029311 rs369884232	468	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1278425843 CA402931220	469	E>K		No	ClinGen TOPMed gnomAD
rs1346671874 CA402931236	471	Q>K		No	ClinGen gnomAD
CA9029312 rs144256341	471	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA9029314 rs772133293	472	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs140181068 CA9029313	472	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA9029315 CA402931266 rs777713031	475	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA9029316 rs746742501 COSM1183574	476	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA9029317 rs559697185	476	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9029318 rs776302212	478	L>F		No	ClinGen ExAC gnomAD
CA402931286 rs1376966400	479	Q>R		No	ClinGen TOPMed gnomAD
CA9029319 rs759076550	480	Q>K		No	ClinGen ExAC gnomAD
CA402931293 rs1469683411	480	Q>R		No	ClinGen TOPMed
rs769392624 CA9029320	482	F>S		No	ClinGen ExAC TOPMed gnomAD
rs1429188198 CA402931313	483	L>V		No	ClinGen gnomAD
rs1049199971 CA304001261	485	M>L		No	ClinGen TOPMed
CA304001268 rs949347853	486	A>V		No	ClinGen Ensembl
CA9029323 rs534931697	488	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA402931345 rs1599427176	488	Q>P		No	ClinGen Ensembl
CA9029324 rs773591927	491	M>I		No	ClinGen ExAC gnomAD
rs140675218 CA9029326	494	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9029325 rs760991193	494	R>W		No	ClinGen ExAC gnomAD
CA402931393 rs1194726175	496	N>H		No	ClinGen gnomAD
TCGA novel	499	A>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402931418 rs1304492542	499	A>P		No	ClinGen TOPMed
rs1212737500 CA402931706	501	E>A		No	ClinGen TOPMed
CA9029360 rs537786817	501	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9029361 rs781106095	503	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs143256319 CA9029362	503	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755814713 CA9029363	504	Q>R		No	ClinGen ExAC gnomAD
CA9029364 rs779533318	505	D>N		No	ClinGen ExAC gnomAD
CA402931800 rs1183562614	509	N>H		No	ClinGen gnomAD
rs1599429212 CA402931807	509	N>T		No	ClinGen Ensembl
rs142537557 CA9029366	511	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA304002932 rs1025651534	515	G>D		No	ClinGen TOPMed gnomAD
CA402931877 rs1174748444	515	G>S		No	ClinGen TOPMed gnomAD
CA402931913 rs1022065150	517	N>K		No	ClinGen gnomAD
rs1434997315 CA402931943	520	S>G		No	ClinGen gnomAD
rs1353051807 CA402931956	521	M>L		No	ClinGen gnomAD
rs1353051807 CA402931955	521	M>V		No	ClinGen gnomAD
CA9029370 rs747585677	522	S>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	523	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1599429281 CA402931992	523	V>G		No	ClinGen Ensembl
rs1276448472 CA402932029	526	N>S		No	ClinGen gnomAD
rs770082664 CA9029374	527	G>S		No	ClinGen ExAC TOPMed gnomAD
CA402932065 rs1319113851	529	M>R		No	ClinGen TOPMed gnomAD
CA402932064 rs1319113851	529	M>T		No	ClinGen TOPMed gnomAD
CA9029376 rs763245378	529	M>V		No	ClinGen ExAC TOPMed gnomAD
CA304005446 rs879114353	533	V>I		No	ClinGen Ensembl
rs1294890712 CA402932124	536	A>G		No	ClinGen gnomAD
rs1383026538 CA402932120	536	A>T		No	ClinGen TOPMed gnomAD
rs1308784506 CA402932129	537	Q>L		No	ClinGen TOPMed
CA9029402 rs547744138	538	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9029405 rs145475596	539	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9029404 rs145475596	539	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402932141 rs1266544789	539	P>S		No	ClinGen gnomAD
CA9029407 rs757883431	540	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9029408 rs201677585	542	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780569363 CA9029411	543	P>A		No	ClinGen ExAC gnomAD
rs1418467220 CA402932176	546	A>T		No	ClinGen gnomAD
CA402932183 rs1460900570	547	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1021870103 CA304005481	551	G>C		No	ClinGen TOPMed
rs769033902 CA304005508	552	G>C		No	ClinGen ExAC TOPMed gnomAD
rs769033902 CA9029420	552	G>S		No	ClinGen ExAC TOPMed gnomAD
CA9029422 rs748380647	553	G>S		No	ClinGen ExAC TOPMed gnomAD
rs772101781 CA9029423	553	G>V		No	ClinGen ExAC gnomAD
rs1270360847 CA402932227	554	G>D		No	ClinGen gnomAD
CA9029425 rs200079740	554	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1259778621 CA402932230	555	G>D		No	ClinGen gnomAD
CA9029427 rs572708769	555	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1484721214 CA402932235	556	G>D		No	ClinGen gnomAD
rs1051505 VAR_033205 CA9029430	556	G>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP
COSM1004340 CA9029435 rs752338179	557	S>G	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA402932240 rs1257650853	557	S>N		No	ClinGen gnomAD
CA9029436 rs758051704	558	S>G		No	ClinGen ExAC gnomAD
rs763578244 CA9029437	559	S>T		No	ClinGen ExAC TOPMed gnomAD
rs751013219 CA9029439	560	N>K		No	ClinGen ExAC TOPMed gnomAD
CA9029440 rs576049092	561	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1158182095 CA402932270	561	A>V		No	ClinGen gnomAD
CA9029441 rs749782323	562	G>S		No	ClinGen ExAC gnomAD
rs779323045 CA9029443 COSM178096	563	G>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1286285525 CA402932280	563	G>V		No	ClinGen gnomAD
rs143689585 CA9029445	564	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs143689585 CA402932282	564	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA9029446 rs143689585	564	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs374272985 CA9029444	564	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770883132 CA9029448	565	G>E		No	ClinGen ExAC gnomAD
CA9029447 rs747064662	565	G>R		No	ClinGen ExAC gnomAD
rs770883132 CA402932285	565	G>V		No	ClinGen ExAC gnomAD
rs776587212 CA9029449	566	G>R		No	ClinGen ExAC gnomAD
CA9029450 rs535008862	568	T>I		No	ClinGen ExAC TOPMed gnomAD
rs561845616 CA9029452	569	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9029453 rs529074862	570	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1208554450 CA402932313	570	T>N		No	ClinGen gnomAD
rs1253873193 CA402932316	571	S>G		No	ClinGen gnomAD
rs148111495 CA9029455	571	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402932326 rs1405564900	572	G>D		No	ClinGen gnomAD
CA9029456 rs371664837	572	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1394487799 CA402932329	573	G>D		No	ClinGen gnomAD
CA9029458 rs754455044	573	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1599433311 CA402932336	574	Q>R		No	ClinGen Ensembl
rs755538493 CA9029459	575	A>G		No	ClinGen ExAC gnomAD
rs141917785 CA9029460	576	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs368720844 CA9029461	577	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA402932352 rs1309997687	577	P>S		No	ClinGen gnomAD
CA402932356 rs1254377590	578	A>P		No	ClinGen TOPMed
CA9029462 rs150609955	578	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs781231612 CA9029466	582	T>I		No	ClinGen ExAC gnomAD
rs745869302 CA9029467	583	P>T		No	ClinGen ExAC gnomAD
rs1230906725 CA402932390	584	S>C		No	ClinGen gnomAD
CA9029469 rs775161413	584	S>T		No	ClinGen ExAC gnomAD
rs1206458145 CA402932396	585	T>I		No	ClinGen TOPMed
CA402932404 rs1599433393	587	T>P		No	ClinGen Ensembl
CA9029470 rs762759062	588	S>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
rs768306091 CA9029471	590	N>D		No	ClinGen ExAC TOPMed gnomAD
CA304005625 rs767204634	591	S>*		No	ClinGen ExAC gnomAD
rs767204634 CA9029474	591	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9029473 rs761544461	591	S>P		No	ClinGen ExAC TOPMed gnomAD
rs760137708 CA402932452	592	L>V		No	ClinGen ExAC TOPMed gnomAD
rs765729766 CA9029477	593	P>S		No	ClinGen ExAC gnomAD

No associated diseases with Q99856

No regional properties for Q99856

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q99856

Functions

		Description
EC Number
Subcellular Localization	Nucleus Cytoplasm	Shuttles between nucleus and cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
membrane raft	Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions.
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.

4 GO annotations of molecular function

Name	Definition
chromatin binding	Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
identical protein binding	Binding to an identical protein or proteins.
transcription coregulator activity	A transcription regulator activity that modulates 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. Coregulators often act by altering chromatin structure and modifications. For example, one class of transcription coregulators 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.

2 GO annotations of biological process

Name	Definition
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8BM75	Arid5b	AT-rich interactive domain-containing protein 5B	Mus musculus (Mouse)	PR
Q62431	Arid3a	AT-rich interactive domain-containing protein 3A	Mus musculus (Mouse)	PR
O02326	cfi-1	AT-rich interactive domain-containing protein cfi-1	Caenorhabditis elegans	PR
C0SUW7	ARID6	AT-rich interactive domain-containing protein 6	Arabidopsis thaliana (Mouse-ear cress)	PR
Q0WNR6	ARID5	AT-rich interactive domain-containing protein 5	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MKLQAVMETL	LQRQQRARQE	LEARQQLPPD	PPAAPPGRAR	AAPDEDREPE	SARMQRAQMA
70	80	90	100	110	120
ALAAMRAAAA	GLGHPASPGG	SEDGPPGSEE	EDAAREGTPG	SPGRGREGPG	EEHFEDMASD
130	140	150	160	170	180
EDMKPKWEEE	EMEEDLGEDE	EEEEEDYEDE	EEEEDEEGLG	PPGPASLGTT	ALFPRKAQPP
190	200	210	220	230	240
QAFRGDGVPR	VLGGQERPGP	GPAHPGGAAH	VAPQLQPPDH	GDWTYEEQFK	QLYELDGDPK
250	260	270	280	290	300
RKEFLDDLFS	FMQKRGTPVN	RIPIMAKQVL	DLFMLYVLVT	EKGGLVEVIN	KKLWREITKG
310	320	330	340	350	360
LNLPTSITSA	AFTLRTQYMK	YLYPYECEKR	GLSNPNELQA	AIDSNRREGR	RQSFGGSLFA
370	380	390	400	410	420
YSPGGAHGML	SSPKLPVSSL	GLAASTNGSS	ITPAPKIKKE	EDSAIPITVP	GRLPVSLAGH
430	440	450	460	470	480
PVVAAQAAAV	QAAAAQAAVA	AQAAALEQLR	EKLESAEPPE	KKMALVADEQ	QRLMQRALQQ
490	500	510	520	530	540
NFLAMAAQLP	MSIRINSQAS	ESRQDSAVNL	TGTNGSNSIS	MSVEINGIMY	TGVLFAQPPA
550	560	570	580	590
PTPTSAPNKG	GGGGGGSSSN	AGGRGGNTGT	SGGQAGPAGL	STPSTSTSNN	SLP