AiPD: Autoinhibited Protein Database

Q9H7Z3

Gene name	NRDE2
Protein name	Nuclear exosome regulator NRDE2
Names	Protein NRDE2 homolog
Species	Homo sapiens (Human)
KEGG Pathway	hsa:55051
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

17-162 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

17-162 (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

2 structures for Q9H7Z3

Entry ID	Method	Resolution	Chain	Position	Source
6IEH	X-ray	289 A	A	163-266	PDB
AF-Q9H7Z3-F1	Predicted				AlphaFoldDB

1004 variants for Q9H7Z3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs141263782 CA7305678	2	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146229623 CA7305679	2	A>S		No	ClinGen ESP ExAC gnomAD
TCGA novel	3	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1005580340 CA264619315	4	F>L		No	ClinGen Ensembl
rs752422466 CA7305675	6	A>D		No	ClinGen ExAC TOPMed
rs762461367 CA7305676	6	A>S		No	ClinGen ExAC gnomAD
rs752422466 CA390598559	6	A>V		No	ClinGen ExAC TOPMed
CA390598522 rs1393545129	9	G>A		No	ClinGen gnomAD
CA7305674 rs369171891	9	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7305672 rs776708808	10	L>F		No	ClinGen ExAC TOPMed gnomAD
CA7305670 rs760706394	11	S>I		No	ClinGen ExAC gnomAD
CA7305669 rs771934367	11	S>R		No	ClinGen ExAC gnomAD
CA390598479 rs1281605207	13	A>V		No	ClinGen gnomAD
TCGA novel	14	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749441372 CA7305667	14	P>S		No	ClinGen ExAC TOPMed gnomAD
CA264619258 rs372374824	15	D>H		No	ClinGen ESP TOPMed
CA264619259 rs372374824	15	D>N		No	ClinGen ESP TOPMed
TCGA novel	16	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7305666 rs775832134	16	G>R		No	ClinGen ExAC gnomAD
rs769848737 CA7305665	18	S>T		No	ClinGen ExAC TOPMed gnomAD
CA7305664 rs373306327	19	S>F		No	ClinGen ExAC gnomAD
CA390598428 rs1354001940	19	S>P		No	ClinGen gnomAD
rs1308553743 CA390598422	20	R>G		No	ClinGen gnomAD
CA390598409 rs1595083324	21	K>E		No	ClinGen Ensembl
CA7305662 rs757702798	21	K>R		No	ClinGen ExAC TOPMed gnomAD
rs970189523	22	E>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1206422655 CA390597697	24	D>G		No	ClinGen gnomAD
rs1263495654 CA390597699	24	D>Y		No	ClinGen gnomAD
CA7305642 rs778390241 COSM1371485	25	W>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC
rs189649770 CA264610168	26	L>V		No	ClinGen 1000Genomes
rs1327970712 CA390597681	27	S>C		No	ClinGen gnomAD
rs1595075956 CA390597670	28	N>T		No	ClinGen Ensembl
rs758688729 CA7305641	29	P>L		No	ClinGen ExAC TOPMed gnomAD
rs779026632 CA264610156	30	S>G		No	ClinGen Ensembl
CA7305640 rs148682249	30	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1031564738 CA264610144	31	F>V		No	ClinGen TOPMed
rs7140914 CA7305638 VAR_057813	32	C>F		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs7140914 CA7305639	32	C>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA390597640 rs955217023	33	V>F		No	ClinGen gnomAD
CA264610123 rs955217023	33	V>I		No	ClinGen gnomAD
CA7305636 rs200339488	35	S>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7305635 rs372358811	36	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7305634 rs748259774	37	T>A		No	ClinGen ExAC TOPMed gnomAD
CA7305633 rs150991941	37	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7305631 rs751310455	38	S>P		No	ClinGen ExAC gnomAD
rs1476625496 CA390597574	44	E>K		No	ClinGen gnomAD
CA390597556 rs1200834997	46	A>V		No	ClinGen TOPMed
rs891382976 CA264610035	47	P>L		No	ClinGen TOPMed gnomAD
rs369516769 CA7305627	49	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs369516769 CA7305626	49	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1487809023 CA390597542	49	H>Y		No	ClinGen gnomAD
rs755456266 CA7305624	52	E>A		No	ClinGen ExAC TOPMed gnomAD
rs755456266 CA7305623	52	E>G		No	ClinGen ExAC TOPMed gnomAD
CA264609994 rs866078272	53	G>E		No	ClinGen Ensembl
CA7305622 rs137945038	55	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA390597504 rs137945038	55	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA390597491 rs1295172859	58	R>G		No	ClinGen gnomAD
rs1389295906 CA390597489	58	R>K		No	ClinGen Ensembl
CA7305601 rs769427476	60	H>L		No	ClinGen ExAC gnomAD
CA7305600 rs745526347	61	L>P		No	ClinGen ExAC TOPMed gnomAD
rs780709310 CA7305599	66	S>P		No	ClinGen ExAC gnomAD
CA390597408 rs1375098962	68	E>G		No	ClinGen TOPMed
rs1308261084 CA390597399	69	S>N		No	ClinGen TOPMed
CA390597401 rs1308261084	69	S>T		No	ClinGen TOPMed
CA390597396 rs1369298742	70	D>N		No	ClinGen gnomAD
CA264606613 rs756757712	71	T>I		No	ClinGen ExAC TOPMed gnomAD
rs756757712 CA7305598	71	T>N		No	ClinGen ExAC TOPMed gnomAD
CA264606601 rs1029779123	72	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1435801051 CA390597378	72	N>K		No	ClinGen TOPMed gnomAD
CA7305597 rs751475641	76	K>R		No	ClinGen ExAC gnomAD
CA7305596 rs777744141	78	T>A		No	ClinGen ExAC gnomAD
TCGA novel	79	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA390597303 rs1423971689	83	K>E		No	ClinGen gnomAD
rs752433291 CA7305593	83	K>N		No	ClinGen ExAC gnomAD
CA7305594 rs758183038	83	K>R		No	ClinGen ExAC gnomAD
TCGA novel	85	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1436758414 CA390597273	87	K>E		No	ClinGen gnomAD
CA390597270 rs1220972316	87	K>R		No	ClinGen TOPMed
rs1023356949 CA264606536	89	K>E		No	ClinGen TOPMed gnomAD
CA7305591 rs1023356949	89	K>Q		No	ClinGen TOPMed gnomAD
rs1249617548	90	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs750652202 CA7305589	91	K>N		No	ClinGen ExAC gnomAD
CA390597223 rs1282200631	93	Q>H		No	ClinGen gnomAD
rs767616214 CA7305585	94	H>P		No	ClinGen ExAC gnomAD
rs1207705940 CA7305587	94	H>Y		No	ClinGen gnomAD
CA390597212 rs1285185284	95	H>R		No	ClinGen TOPMed gnomAD
TCGA novel	95	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7305584 rs142725951	98	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA7305583 rs142725951	98	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs763565372 CA7305581	99	K>E		No	ClinGen ExAC TOPMed gnomAD
CA7305580 rs775945289	100	R>T		No	ClinGen ExAC TOPMed gnomAD
CA7305579 rs770082147	101	K>N		No	ClinGen ExAC gnomAD
CA7305578 rs745502572	102	H>R		No	ClinGen ExAC gnomAD
rs776194811 CA7305577	104	P>L		No	ClinGen ExAC TOPMed gnomAD
rs371333350 CA390597147	105	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs371333350 CA7305575	105	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA390597149 rs1159377915	105	S>P		No	ClinGen gnomAD
rs371333350 CA390597146	105	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA264606447 rs1014858448	107	S>I		No	ClinGen TOPMed gnomAD
rs367803290 CA7305572	108	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7305573 rs367803290	108	S>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1004837443 CA264606420	109	R>G		No	ClinGen TOPMed gnomAD
rs778739318 CA390597122	109	R>K		No	ClinGen ExAC gnomAD
CA7305571 rs778739318	109	R>T		No	ClinGen ExAC gnomAD
CA390597117 rs1482787613	110	S>A		No	ClinGen TOPMed gnomAD
CA390597119 rs1482787613	110	S>T		No	ClinGen TOPMed gnomAD
rs1260693178 CA390597112	111	E>Q		No	ClinGen gnomAD
CA264606410 rs927784919	112	T>I		No	ClinGen TOPMed gnomAD
TCGA novel	112	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1566699491 CA390597096	113	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA7305569 rs754783643	113	D>H		No	ClinGen ExAC gnomAD
CA264606394 rs981866891	114	T>I		No	ClinGen Ensembl
rs1327268148 COSM198098 CA390597088	115	D>N	ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs750647992 CA7305568	116	S>P		No	ClinGen ExAC gnomAD
CA390597072 rs1442637186	117	E>G		No	ClinGen gnomAD
CA264606389 rs916258631	117	E>Q		No	ClinGen gnomAD
rs1029692204 CA264606350	119	D>G		No	ClinGen TOPMed
rs1311169894 CA390597059	119	D>H		No	ClinGen TOPMed gnomAD
rs1311169894 CA390597060	119	D>N		No	ClinGen TOPMed gnomAD
rs757560188 CA7305566	120	K>R		No	ClinGen ExAC gnomAD
rs200325183 CA7305565	121	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA264606342 rs989514191	121	P>T		No	ClinGen Ensembl
rs764288867 CA7305564	122	S>T		No	ClinGen ExAC gnomAD
rs1280685740 CA390597035	123	R>K		No	ClinGen TOPMed gnomAD
rs1385935283 CA390597025	124	G>D		No	ClinGen gnomAD
CA390597030 rs1436840488	124	G>S		No	ClinGen gnomAD
rs776176379 CA7305562 COSM1740109	125	V>I	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA7305560 rs776341046	127	G>D		No	ClinGen ExAC TOPMed gnomAD
rs776341046 CA7305559	127	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1419978128 CA390597004	128	S>I		No	ClinGen gnomAD
rs1428649063 CA390597001	129	K>E		No	ClinGen TOPMed
CA264606277 rs369682041	131	E>G		No	ClinGen ESP
rs1190192712 CA390596964	134	E>K		No	ClinGen gnomAD
rs1190192712 CA390596963	134	E>Q		No	ClinGen gnomAD
rs771610805	135	P>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA7305556 rs772670470	135	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1340313701 CA390596954	135	P>S		No	ClinGen gnomAD
CA390596948 rs1469874980	136	N>T		No	ClinGen gnomAD
TCGA novel	138	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA390596909 rs1253570673	139	N>T		No	ClinGen gnomAD
CA7305536 rs371278516	141	A>G		No	ClinGen ESP ExAC gnomAD
CA264603264 rs955737230	141	A>T		No	ClinGen Ensembl
rs371278516 CA390596892	141	A>V		No	ClinGen ESP ExAC gnomAD
CA390596888 rs1262341426	142	A>T		No	ClinGen TOPMed
CA264603244 rs200884457	143	A>G		No	ClinGen Ensembl
rs1187906013 CA390596879	143	A>S		No	ClinGen TOPMed
TCGA novel	146	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772901284 CA390596847	147	H>D		No	ClinGen ExAC gnomAD
rs1385713606 CA390596844	147	H>R		No	ClinGen gnomAD
rs772901284 CA7305534	147	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	148	R>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs187130409 COSM958626 CA7305533	148	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs761383323 CA7305532	148	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA390596836 rs761383323	148	R>L		No	ClinGen ExAC TOPMed gnomAD
rs768422397 CA7305530	150	V>A		No	ClinGen ExAC gnomAD
CA7305531 rs773920143	150	V>L		No	ClinGen ExAC gnomAD
rs749268043 CA7305529	154	D>N		No	ClinGen ExAC gnomAD
CA390596770 rs1421264192	156	Q>*		No	ClinGen gnomAD
CA7305528 rs779670658	159	T>A		No	ClinGen ExAC TOPMed gnomAD
CA7305527 rs201051018	159	T>M		No	ClinGen 1000Genomes ExAC gnomAD
CA264603188 rs545072997	160	G>R		No	ClinGen Ensembl
rs1254673971 CA390596715	164	R>G		No	ClinGen gnomAD
CA390596707 rs1426148684	165	T>A		No	ClinGen TOPMed
CA7305525 rs778198457	165	T>I		No	ClinGen ExAC gnomAD
rs147078798 CA7305524	166	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs752651119 CA7305523	168	K>Q		No	ClinGen ExAC TOPMed
rs779062271 CA7305522	168	K>R		No	ClinGen ExAC gnomAD
CA7305521 rs755402107	169	P>S		No	ClinGen ExAC gnomAD
CA7305520 rs754411105	172	A>V		No	ClinGen ExAC TOPMed gnomAD
rs761086826 CA7305518	174	W>*		No	ClinGen ExAC gnomAD
rs766709338 CA7305519	174	W>*		No	ClinGen ExAC gnomAD
rs766709338 CA264603115	174	W>L		No	ClinGen ExAC gnomAD
CA7305517 rs750076079	175	E>Q		No	ClinGen ExAC gnomAD
CA390596630 rs1320514096	176	Y>*		No	ClinGen TOPMed
rs767093845 CA7305516	179	L>F		No	ClinGen ExAC gnomAD
rs761543425 CA7305515	181	R>*		No	ClinGen ExAC TOPMed gnomAD
rs532677267 CA7305514	181	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7305513 rs532677267	181	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7305512 rs140561979	182	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA390596597 rs140561979	182	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA390596599 rs1313288857	182	G>R		No	ClinGen gnomAD
CA7305511 rs142973720	183	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7305510 rs373453909	184	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs370188454 CA7305509 COSM1608045	185	A>T	liver [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA390596385 rs1464043136	186	R>S		No	ClinGen gnomAD
CA7305488 rs770800353	188	K>E		No	ClinGen ExAC gnomAD
CA7305486 rs774692869	192	D>N		No	ClinGen ExAC gnomAD
rs1412750146 CA390596317	196	G>A		No	ClinGen gnomAD
CA390596319 rs1178461086	196	G>S		No	ClinGen TOPMed
rs1411970824 CA390596314	197	I>V		No	ClinGen TOPMed
rs756566835 CA7305482	199	P>R		No	ClinGen ExAC TOPMed gnomAD
rs781502472 CA7305480	200	K>*		No	ClinGen ExAC TOPMed gnomAD
rs781502472 CA7305481	200	K>E		No	ClinGen ExAC TOPMed gnomAD
rs372242929 CA390596283	201	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1404132290 CA390596279	202	Q>*		No	ClinGen TOPMed gnomAD
rs751153856 CA7305478	203	C>R		No	ClinGen ExAC gnomAD
rs764123197 CA264597287	204	I>L		No	ClinGen ExAC TOPMed gnomAD
rs1444250256 CA390596262	204	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs764123197 CA7305477	204	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1161116686 CA390596231	209	T>A		No	ClinGen TOPMed gnomAD
CA7305476 rs757990007	209	T>I		No	ClinGen ExAC gnomAD
rs202150396 CA7305475	210	S>C		No	ClinGen 1000Genomes ExAC
CA390596214 rs1266511351	212	E>A		No	ClinGen TOPMed
rs764861178 CA390596216	212	E>K		No	ClinGen ExAC TOPMed gnomAD
rs764861178 CA7305474	212	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs759517497 CA7305473	213	K>R		No	ClinGen ExAC gnomAD
rs776760025 CA7305472	214	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs780487709 CA7305471	214	K>T		No	ClinGen ExAC
CA7305469 rs561121483	216	S>A		No	ClinGen 1000Genomes ExAC gnomAD
rs561121483 CA390596172	216	S>P		No	ClinGen 1000Genomes ExAC gnomAD
rs146561225 CA7305467	217	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7305466 rs768869559	217	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs956067632 CA264597217	218	K>R		No	ClinGen TOPMed gnomAD
rs1272143123 CA390596131	219	Q>R		No	ClinGen gnomAD
CA390596115 rs1227950068	220	V>F		No	ClinGen TOPMed gnomAD
rs1227950068 CA390596118	220	V>I		No	ClinGen TOPMed gnomAD
rs763040101 CA7305465	222	R>C		No	ClinGen ExAC TOPMed gnomAD
CA390596070 rs1276716640	222	R>H		No	ClinGen TOPMed gnomAD
CA390596030 rs1434374658	223	Y>C		No	ClinGen gnomAD
CA390596033 rs1472895115	223	Y>H		No	ClinGen TOPMed
CA390596031 rs1434374658	223	Y>S		No	ClinGen gnomAD
CA390595999 rs1309166588	224	F>L		No	ClinGen gnomAD
rs368073920 CA7305464	224	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs769899603 CA7305463	225	T>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	226	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA390595930 rs1168274183	228	S>N		No	ClinGen gnomAD
CA264597197 rs946033412	230	G>E		No	ClinGen TOPMed
TCGA novel	231	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7305460 rs771192087	232	M>V		No	ClinGen ExAC gnomAD
rs1192475307 CA390595825	234	I>V		No	ClinGen gnomAD
rs758018852 COSM1237719 CA7305457	235	D>G	thyroid [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM120841 CA7305458 rs778011988	235	D>N	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1204122996 CA390595783	237	V>D		No	ClinGen gnomAD
rs752427712 CA7305455	238	A>T		No	ClinGen ExAC gnomAD
rs1023153847 CA264597173	239	I>V		No	ClinGen TOPMed
rs1566693515 CA390595739	241	S>R		No	ClinGen Ensembl
rs778545836 CA7305454	242	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs754596189 CA7305453	242	K>R		No	ClinGen ExAC gnomAD
CA7305452 rs753822797	243	T>A		No	ClinGen ExAC gnomAD
rs766273350 CA7305451	246	P>L		No	ClinGen ExAC gnomAD
rs922562824 CA264597122	247	S>A		No	ClinGen gnomAD
CA7305450 rs201538300	247	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1197893005 CA390595632	249	E>Q		No	ClinGen TOPMed
CA7305448 rs577733304	250	P>A		No	ClinGen ExAC gnomAD
CA264597093 rs577733304	250	P>T		No	ClinGen ExAC gnomAD
rs1177777056 CA390595569	254	I>L		No	ClinGen gnomAD
rs775735350 CA7305446	254	I>T		No	ClinGen ExAC gnomAD
CA264597068 rs1018487633	255	P>T		No	ClinGen Ensembl
rs759674769 CA7305444	256	V>M		No	ClinGen ExAC gnomAD
CA390595509 rs1483007156	258	D>N		No	ClinGen TOPMed
rs776575215 CA7305443	258	D>V		No	ClinGen ExAC gnomAD
rs146821347 CA7305442	260	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	261	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs183085971 CA7305441	262	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7305439 rs149712515	263	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1208294496 CA390595385	264	P>L		No	ClinGen gnomAD
CA7305438 rs368460166	264	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1441989704 CA390595370	265	V>F		No	ClinGen TOPMed gnomAD
rs1441989704 CA390595375	265	V>I		No	ClinGen TOPMed gnomAD
CA7305437 rs139586208	266	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150585386 CA7305436	267	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143888178 CA7305435	270	N>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1239535998 CA390595260	271	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1024569266 CA264596948	271	P>T		No	ClinGen Ensembl
rs1396656919 CA390595226	273	G>A		No	ClinGen TOPMed
CA390595207 rs1595067564	274	I>T		No	ClinGen Ensembl
rs756041680 CA7305433	274	I>V		No	ClinGen ExAC gnomAD
rs1301391644 CA390595190	275	Y>C		No	ClinGen gnomAD
rs767319459 CA7305431	276	D>G		No	ClinGen ExAC
rs750370067 CA7305432	276	D>N		No	ClinGen ExAC gnomAD
CA390595147 rs1404839716	278	S>P		No	ClinGen gnomAD
CA7305430 rs761651321	279	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs370760181 CA7305429	279	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA390595132 rs761651321	279	T>P		No	ClinGen ExAC gnomAD
CA7305428 rs370760181	279	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs759766647 CA390595116	280	T>A		No	ClinGen ExAC TOPMed gnomAD
rs759766647 CA7305427	280	T>S		No	ClinGen ExAC TOPMed gnomAD
rs139768099 CA7305426	281	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1566693313 CA390595062	282	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs761212202 CA7305425	284	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs761212202 CA7305424	284	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs773651942 CA7305423	284	Q>R		No	ClinGen ExAC gnomAD
rs1179859254 CA390595022	285	G>E		No	ClinGen gnomAD
rs1483058970 CA390595013	286	Q>E		No	ClinGen TOPMed gnomAD
CA390594972 rs1176417727	288	P>S		No	ClinGen Ensembl
CA7305421 rs748457605	289	P>A		No	ClinGen ExAC gnomAD
rs1226783137 CA390594868	293	S>L		No	ClinGen TOPMed
TCGA novel	297	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs554337862 CA7305417	299	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
rs748929196 CA7305418	299	Q>L		No	ClinGen ExAC gnomAD
rs755631303 CA7305416	300	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1199355543 CA390594755	301	D>N		No	ClinGen TOPMed
TCGA novel	302	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	303	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7305413 rs191233972	303	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA390594695 rs1188981815	304	S>G		No	ClinGen TOPMed
CA7305412 rs751293851	305	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA390594663 rs1351494065	306	A>S		No	ClinGen TOPMed gnomAD
CA264596813 rs936170748	307	L>R		No	ClinGen Ensembl
CA264596833 rs1031692237	307	L>V		No	ClinGen TOPMed
CA390594628 rs1162488616	308	K>M		No	ClinGen TOPMed gnomAD
rs1400351785 CA390594624	309	A>P		No	ClinGen TOPMed
TCGA novel	309	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA390594609 rs1380511825	311	V>M		No	ClinGen TOPMed gnomAD
CA390594573 rs1190739340	316	R>G		No	ClinGen gnomAD
rs754047750 CA7305409	316	R>T		No	ClinGen ExAC TOPMed gnomAD
rs766469575 CA7305408	317	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7305407 rs760733906	319	R>Q		No	ClinGen ExAC gnomAD
rs371403922 CA264596801	319	R>W		No	ClinGen TOPMed gnomAD
CA7305404 rs138706639	323	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA7305403 rs138706639	323	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7305405 rs560359168 COSM1323345	323	R>W	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA390594477 rs1193478825	324	D>V		No	ClinGen gnomAD
rs769187480 CA7305402	325	T>A		No	ClinGen ExAC TOPMed gnomAD
CA7305401 rs748952607	325	T>M		No	ClinGen ExAC TOPMed gnomAD
CA390594443 rs1246560985	327	L>Q		No	ClinGen TOPMed gnomAD
rs745306047 CA7305397	329	M>I		No	ClinGen ExAC gnomAD
rs946085953 CA264596729	329	M>V		No	ClinGen Ensembl
CA390594385 rs1423832886	330	A>T		No	ClinGen gnomAD
CA390594379 rs1370945794	330	A>V		No	ClinGen gnomAD
rs757136441 CA7305395	335	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7305394 rs746978313	335	Q>R		No	ClinGen ExAC gnomAD
CA390594220 rs1309677230	336	D>E		No	ClinGen TOPMed gnomAD
CA390594226 rs1489442716	336	D>Y		No	ClinGen gnomAD
CA7305384 rs752165763	337	E>K		No	ClinGen ExAC
rs764544257 CA7305383	338	V>I		No	ClinGen ExAC gnomAD
CA264596263 rs965574849	339	M>I		No	ClinGen Ensembl
TCGA novel	339	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763291260 CA390594171	339	M>K		No	ClinGen ExAC TOPMed gnomAD
rs763291260 CA390594168	339	M>R		No	ClinGen ExAC TOPMed gnomAD
CA7305382 rs763291260	339	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1173366142 CA390594148	340	K>T		No	ClinGen gnomAD
rs1467725960 CA390594139	341	S>G		No	ClinGen gnomAD
CA7305381 rs775923849	345	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA390594051 rs769270612	347	I>M		No	ClinGen ExAC TOPMed gnomAD
CA7305379 rs759252429	348	E>K		No	ClinGen ExAC TOPMed gnomAD
CA7305378 rs776078489	349	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA390594024 rs1299078861	350	G>R		No	ClinGen TOPMed
CA7305377 rs770466082	351	E>G		No	ClinGen ExAC gnomAD
CA7305376 rs768584288	352	Q>R		No	ClinGen ExAC gnomAD
rs1249451664 CA390593978	353	E>K		No	ClinGen gnomAD
rs777744264 CA7305375	354	K>E		No	ClinGen ExAC TOPMed
rs747841576 CA7305373	355	R>*		No	ClinGen ExAC TOPMed gnomAD
rs747841576 CA390593947	355	R>G		No	ClinGen ExAC TOPMed gnomAD
rs756253480 CA7305372	355	R>P		No	ClinGen ExAC TOPMed gnomAD
rs756253480 CA7305371	355	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1290135862 CA390593925	356	K>N		No	ClinGen gnomAD
rs1226413498 CA390593890	359	L>M		No	ClinGen TOPMed gnomAD
rs577491304 CA264596207	360	K>*		No	ClinGen Ensembl
rs775950012 CA7305368	361	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1247362751 CA390593851	362	I>T		No	ClinGen TOPMed
CA7305367 rs752104653	367	L>P		No	ClinGen ExAC gnomAD
CA390593756 rs1336215415	369	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	371	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1457805028 CA390593727	371	E>G		No	ClinGen gnomAD
CA7305364 rs752951623	372	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7305365 rs763527113	372	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1369414370 CA390593697	374	I>T		No	ClinGen gnomAD
CA390593702 rs1566692555	374	I>V		No	ClinGen Ensembl
CA390593668 rs1425239853	377	N>D		No	ClinGen gnomAD
CA7305361 rs199890497	377	N>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770412914 CA7305360	377	N>K		No	ClinGen ExAC gnomAD
rs199890497 CA7305362	377	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs995488595 CA264596165	380	S>C		No	ClinGen Ensembl
rs1401628136 CA390593646	380	S>N		No	ClinGen TOPMed gnomAD
CA390593624 rs1360851543	383	L>P		No	ClinGen gnomAD
rs1464948333 CA390593607	386	A>S		No	ClinGen gnomAD
CA390593609 rs1464948333	386	A>T		No	ClinGen gnomAD
CA390593592 rs1269419281	388	L>P		No	ClinGen gnomAD
rs906258927 CA264596152	389	K>N		No	ClinGen TOPMed gnomAD
rs1203322628 CA390593576	391	C>R		No	ClinGen gnomAD
CA390593540 rs1349824005	395	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1384873158 CA390593519	398	S>F		No	ClinGen TOPMed
CA264596143 rs192053063	399	T>A		No	ClinGen 1000Genomes gnomAD
CA7305358 rs772723330	400	L>P		No	ClinGen ExAC TOPMed gnomAD
rs772723330 CA7305359	400	L>R		No	ClinGen ExAC TOPMed gnomAD
rs1025230845 CA264596136	401	V>I		No	ClinGen TOPMed gnomAD
CA264596129 rs368182425	402	K>R		No	ClinGen Ensembl
CA7305357 rs771858243	403	E>K		No	ClinGen ExAC gnomAD
rs1331225527 CA390593484	404	W>*		No	ClinGen TOPMed
rs1318547493 CA390593490	404	W>R		No	ClinGen gnomAD
CA7305356 rs748149619	406	K>E		No	ClinGen ExAC gnomAD
CA390593461 rs1456712377	408	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	412	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7305353 rs746079397	412	P>S		No	ClinGen ExAC
CA390593419 rs1189918080	414	N>H		No	ClinGen gnomAD
CA7305352 rs376388458	415	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1449631553 CA390593406	415	T>I		No	ClinGen gnomAD
rs762417502 CA264596107	418	W>C		No	ClinGen Ensembl
TCGA novel	419	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1479025264 CA390593361	419	Q>E		No	ClinGen gnomAD
TCGA novel	421	Y>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7305351 rs533952571	426	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA390593245 rs1190330637	427	S>N		No	ClinGen gnomAD
CA264596105 rs896279813	428	Q>R		No	ClinGen Ensembl
CA264596104 rs112277200	429	F>L		No	ClinGen gnomAD
rs112277200 CA390593221	429	F>V		No	ClinGen gnomAD
CA390593189 rs1356987015	431	T>A		No	ClinGen gnomAD
rs138912467 CA7305348	433	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA390593143 rs1268541169	434	I>T		No	ClinGen gnomAD
CA7305347 rs777928165	434	I>V		No	ClinGen ExAC TOPMed gnomAD
CA7305346 rs758788916	436	K>E		No	ClinGen ExAC gnomAD
TCGA novel	437	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765494977 CA7305345	438	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1326097151 CA390593080	438	H>R		No	ClinGen gnomAD
CA7305342 rs755393461	445	L>S		No	ClinGen ExAC gnomAD
TCGA novel	449	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7305341 rs753484323 COSM1188885	451	V>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA7305340 rs374022348	452	K>Q		No	ClinGen ESP ExAC gnomAD
rs1165689418 CA390592818	453	D>N		No	ClinGen gnomAD
rs1247276109 CA390592786	454	G>D		No	ClinGen TOPMed gnomAD
CA7305337 rs772558509	454	G>S		No	ClinGen ExAC TOPMed gnomAD
rs746785589 CA390592754	456	I>F		No	ClinGen ExAC gnomAD
CA7305336 rs746785589	456	I>V		No	ClinGen ExAC gnomAD
rs761635972 CA7305335	457	L>F		No	ClinGen ExAC gnomAD
CA7305334 rs774409195	461	A>V		No	ClinGen ExAC TOPMed gnomAD
CA264595994 rs866022394	462	L>F		No	ClinGen gnomAD
rs749019994 CA7305332	464	G>D		No	ClinGen ExAC TOPMed gnomAD
CA7305331 rs369566189	465	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA390592535 rs1276625725	467	E>G		No	ClinGen gnomAD
rs1305826374 CA390592527	468	A>S		No	ClinGen TOPMed
rs771225945 CA7305330	469	M>T		No	ClinGen ExAC gnomAD
rs1345386582 CA390592466	471	A>S		No	ClinGen gnomAD
CA390592186 rs1217818088	472	L>P		No	ClinGen TOPMed
rs756870095 CA7305298	474	L>I		No	ClinGen ExAC
CA264595013 rs201388772	476	Q>H		No	ClinGen 1000Genomes
CA390592149 rs1317972710	477	C>R		No	ClinGen TOPMed
CA390592131 rs763726146	478	H>P		No	ClinGen ExAC gnomAD
CA7305296 rs763726146	478	H>R		No	ClinGen ExAC gnomAD
CA7305297 rs533688840	478	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA390592099 rs1297749876	480	L>V		No	ClinGen gnomAD
rs150270537 CA390592086	481	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7305292 rs150270537	481	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs765110421 CA7305293	481	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1367217265 CA390592070	482	Q>H		No	ClinGen gnomAD
CA390592058 rs1161400239	483	A>G		No	ClinGen gnomAD
CA390592050 rs1424290319	484	G>A		No	ClinGen gnomAD
rs1424290319 CA390592051	484	G>D		No	ClinGen gnomAD
CA390592021 rs1172674376	487	E>G		No	ClinGen gnomAD
CA390592011 rs1267718171	488	K>E		No	ClinGen TOPMed
CA390592008 rs1476927616	488	K>T		No	ClinGen TOPMed
CA390591949 rs1178656395	492	L>F		No	ClinGen TOPMed
rs1261058459 CA390591954	492	L>S		No	ClinGen gnomAD
rs1408672037 CA390591909	494	Q>H		No	ClinGen TOPMed
rs199759819 CA7305289	496	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1267237611 CA390591892	496	M>T		No	ClinGen gnomAD
rs199759819 CA390591896	496	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs888007749 CA264594998	497	V>A		No	ClinGen TOPMed
rs1048716271 CA264594997	499	F>L		No	ClinGen TOPMed
rs1595065535 CA390591842	500	T>P		No	ClinGen Ensembl
rs201684478 CA7305288	502	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA390591791 rs1595065528	503	K>N		No	ClinGen Ensembl
CA390591785 rs1358333284	504	P>S		No	ClinGen gnomAD
rs749783925 CA7305286	505	D>E		No	ClinGen ExAC TOPMed gnomAD
CA7305287 rs367936820	505	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA390591772 rs367936820	505	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7305282 rs781427572	507	V>A		No	ClinGen ExAC gnomAD
CA264594990 CA7305284 rs79341977	507	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7305283 rs79341977	507	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs548710589 CA7305280	509	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs548710589 CA390591711	509	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7305279 rs777392671	512	T>I		No	ClinGen ExAC gnomAD
CA7305278 rs758038357	513	K>R		No	ClinGen ExAC gnomAD
rs528565000 CA264594960	514	G>V		No	ClinGen 1000Genomes gnomAD
CA390591645 rs1372607637	515	Q>E		No	ClinGen gnomAD
rs754913653 CA7305258	516	V>L		No	ClinGen ExAC gnomAD
rs1473169279 CA390590687	519	F>L		No	ClinGen TOPMed gnomAD
rs1231325232 CA390590673	520	E>D		No	ClinGen TOPMed
rs201603043 CA7305257	521	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs922345858 CA264590332	523	W>R		No	ClinGen gnomAD
CA7305256 rs766185250	525	S>N		No	ClinGen ExAC TOPMed gnomAD
CA7305254 rs750227068	527	E>D		No	ClinGen ExAC TOPMed gnomAD
rs764247349 CA7305253	528	P>T		No	ClinGen ExAC gnomAD
CA390590487 rs202055536	529	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs202055536 CA264590306	529	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7305251 rs202055536	529	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA7305252 COSM3815484 rs368842771	529	R>W	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA264590277 rs865918759	530	A>S		No	ClinGen Ensembl
CA390590443 rs1408803320	532	E>D		No	ClinGen TOPMed
CA7305250 rs373563445	536	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1376841956 CA390590397	536	R>Q		No	ClinGen TOPMed
rs1262318855 CA390590389	537	G>R		No	ClinGen gnomAD
rs1262318855 CA390590391	537	G>S		No	ClinGen gnomAD
rs1414992132 COSM3815483 CA390590368	538	W>*	breast [Cosmic]	No	ClinGen cosmic curated TOPMed
CA390590363 rs1312089658 COSM3815483	538	W>*	breast [Cosmic]	No	ClinGen cosmic curated TOPMed
CA390590335 rs1335463892	540	A>S		No	ClinGen TOPMed gnomAD
CA390590339 rs1335463892	540	A>T		No	ClinGen TOPMed gnomAD
rs145620579 CA7305248	540	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs773724975 CA7305245	543	H>Y		No	ClinGen ExAC gnomAD
CA7305243 rs747843831	544	Q>P		No	ClinGen ExAC gnomAD
CA264590253 rs866134935	546	E>K		No	ClinGen Ensembl
CA7305242 rs778465509	547	R>Q		No	ClinGen ExAC gnomAD
CA7305239 rs779791343	550	W>*		No	ClinGen ExAC gnomAD
rs749245810 CA7305240	550	W>R		No	ClinGen ExAC TOPMed gnomAD
rs756093694 CA7305238	551	V>E		No	ClinGen ExAC
CA390590180 rs756093694	551	V>G		No	ClinGen ExAC
CA7305236 rs146810395	553	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1390116194 CA390590159	553	I>V		No	ClinGen gnomAD
rs758584917 CA7305235	554	N>H		No	ClinGen ExAC gnomAD
CA7305234 rs752962579	555	P>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7305217 rs752962048	556	D>G		No	ClinGen ExAC gnomAD
CA390588737 rs1215300530	557	E>K		No	ClinGen gnomAD
CA7305216 rs375723190	559	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753812137 CA7305214	560	D>N		No	ClinGen ExAC gnomAD
CA7305213 rs552621257	562	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA390588640 rs1295823000	563	E>G		No	ClinGen TOPMed
rs928438316 CA264586593	566	D>V		No	ClinGen TOPMed gnomAD
CA390588567 rs1302156503	568	E>Q		No	ClinGen gnomAD
rs751024048 CA7305210	571	D>G		No	ClinGen ExAC gnomAD
CA7305209 rs767988067	572	K>N		No	ClinGen ExAC TOPMed gnomAD
rs762200276 CA7305208	573	T>I		No	ClinGen ExAC gnomAD
CA390588469 rs148662497	575	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA7305207 rs148662497	575	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA390588427 rs1201401809	578	Q>R		No	ClinGen gnomAD
CA264586574 rs916581094	579	I>M		No	ClinGen TOPMed
CA390588400 rs1237618359	580	W>G		No	ClinGen gnomAD
rs1479327117 CA390588371	582	A>V		No	ClinGen TOPMed gnomAD
CA7305206 rs768142205	583	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7305205 rs762693758	583	A>V		No	ClinGen ExAC gnomAD
CA7305204 rs774836357	585	R>C		No	ClinGen ExAC TOPMed gnomAD
rs769347186 CA7305203	585	R>H		No	ClinGen ExAC TOPMed gnomAD
CA7305201 rs781176314	587	R>C		No	ClinGen ExAC TOPMed gnomAD
rs149932737 COSM198096 CA7305200	587	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA7305199 rs746725841	588	D>H		No	ClinGen ExAC gnomAD
CA390588294 rs1179328535	590	R>K		No	ClinGen TOPMed
rs1345274290 CA390588283	591	H>Y		No	ClinGen gnomAD
rs754139258 CA7305196	593	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7305197 rs371856577	593	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs756328028 CA390588243	594	P>A		No	ClinGen ExAC gnomAD
CA7305193 rs750534213	594	P>L		No	ClinGen ExAC TOPMed gnomAD
rs756328028 CA7305194	594	P>S		No	ClinGen ExAC gnomAD
rs1595061046 CA390588232	595	W>R		No	ClinGen Ensembl
CA7305191 rs368425343	596	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs762773892 CA7305189	596	R>F*		No	ClinGen ExAC
CA264586499 rs983526409	596	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs368425343 CA7305192	596	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7305187 rs762494516	597	P>L		No	ClinGen ExAC gnomAD
CA7305188 rs764555221	597	P>S		No	ClinGen ExAC TOPMed gnomAD
CA390588194 rs1471302889 COSM3815482	598	D>H	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA390588173 rs775274017	599	K>M		No	ClinGen ExAC gnomAD
CA7305186 rs775274017	599	K>T		No	ClinGen ExAC gnomAD
rs1265010610 CA390588157	601	K>E		No	ClinGen gnomAD
rs769292180 CA7305185	602	K>R		No	ClinGen ExAC gnomAD
rs1595061008 CA390588098	604	T>I		No	ClinGen Ensembl
CA7305182 rs770807341	605	E>K		No	ClinGen ExAC TOPMed gnomAD
CA390588074 rs1223213714	606	E>K		No	ClinGen Ensembl
CA390588053 rs1277397097	607	D>Y		No	ClinGen TOPMed gnomAD
TCGA novel	608	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	609	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1445507747 CA390588026	609	E>Q		No	ClinGen gnomAD
CA7305180 rs772852619	613	R>K		No	ClinGen ExAC gnomAD
CA390586833 rs1345640922	615	V>L		No	ClinGen TOPMed
CA7305149 rs758846042	616	L>V		No	ClinGen ExAC gnomAD
CA264584824 rs1014874218	620	I>T		No	ClinGen TOPMed gnomAD
rs1264995477 CA390586785	620	I>V		No	ClinGen TOPMed gnomAD
rs1295622367 CA390586774	622	Q>K		No	ClinGen gnomAD
CA7305147 COSM292549 rs765622805	622	Q>R	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA264584804 rs917431308	623	S>F		No	ClinGen gnomAD
rs1595059967 CA390586732	626	R>S		No	ClinGen Ensembl
CA390586717 rs754595219	628	S>A		No	ClinGen ExAC TOPMed gnomAD
CA7305146 rs754595219	628	S>P		No	ClinGen ExAC TOPMed gnomAD
rs753537749 CA7305145	632	L>F		No	ClinGen ExAC gnomAD
CA7305144 rs765802192	632	L>H		No	ClinGen ExAC gnomAD
rs753537749 CA390586655	632	L>V		No	ClinGen ExAC gnomAD
CA7305143 rs760163844	634	F>I		No	ClinGen ExAC gnomAD
CA7305142 rs772609621	637	V>L		No	ClinGen ExAC TOPMed gnomAD
rs767438311 CA7305141	638	E>K		No	ClinGen ExAC gnomAD
TCGA novel	640	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774254395 CA7305140	641	L>V		No	ClinGen ExAC TOPMed gnomAD
CA7305138 rs200542150	642	Q>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs993000570 CA264584731	643	F>L		No	ClinGen Ensembl
CA7305137 rs45462994	644	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7305136 rs558344811	645	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs771065485 CA7305135	646	V>M		No	ClinGen ExAC gnomAD
CA7305134 rs747056242	648	S>C		No	ClinGen ExAC gnomAD
CA7305133 rs777738670	649	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1251431564 CA390586420	651	T>N		No	ClinGen gnomAD
rs1595059916 CA390586425	651	T>P		No	ClinGen Ensembl
CA390586398 rs1305765251	653	P>A		No	ClinGen gnomAD
rs748695543 CA7305131	653	P>L		No	ClinGen ExAC gnomAD
CA390586390 rs1566686657	654	A>T		No	ClinGen Ensembl
rs779227433 CA7305130	654	A>V		No	ClinGen ExAC TOPMed gnomAD
CA7305129 rs755401760	655	S>T		No	ClinGen ExAC TOPMed gnomAD
rs754206213 CA7305128	656	C>S		No	ClinGen ExAC gnomAD
CA7305127 rs200650545	656	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA390586336 rs1280458313	658	Y>S		No	ClinGen gnomAD
CA7305126 rs147436404	659	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1340107173 CA390586309	660	A>V		No	ClinGen gnomAD
rs1448840896 CA390586282	662	D>G		No	ClinGen TOPMed
rs1566686605 CA390586270	663	E>G		No	ClinGen Ensembl
CA390586274 rs766972857	663	E>K		No	ClinGen ExAC TOPMed gnomAD
CA7305124 rs766972857	663	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA7305122 rs751600503	665	S>G		No	ClinGen ExAC gnomAD
CA7305121 rs763980316	666	I>V		No	ClinGen ExAC TOPMed gnomAD
CA7305120 rs762774306	667	F>C		No	ClinGen ExAC gnomAD
rs775163643 CA7305119	669	N>I		No	ClinGen ExAC gnomAD
rs1250795479 CA390586166	671	L>F		No	ClinGen gnomAD
CA390586168 rs1250795479	671	L>V		No	ClinGen gnomAD
CA7305117 rs377461214	672	Y>C		No	ClinGen ESP ExAC gnomAD
rs771139231 CA390586157	672	Y>D		No	ClinGen ExAC TOPMed gnomAD
rs771139231 CA7305118	672	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA7305116 rs773313077	673	D>H		No	ClinGen ExAC gnomAD
TCGA novel	673	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1204259834 CA390586133	674	E>K		No	ClinGen gnomAD
CA7305115 rs374702908	676	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA390586097 rs1232250356	677	L>S		No	ClinGen TOPMed gnomAD
CA264584551 rs1026656948	677	L>V		No	ClinGen Ensembl
CA390586089 rs1467546441	678	T>P		No	ClinGen TOPMed
TCGA novel	680	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769165225 CA7305112	681	N>S		No	ClinGen ExAC TOPMed gnomAD
CA7305111 rs749603823	682	P>A		No	ClinGen ExAC TOPMed gnomAD
rs567282029 CA390586020	682	P>H		No	ClinGen 1000Genomes ExAC gnomAD
rs567282029 CA7305110	682	P>R		No	ClinGen 1000Genomes ExAC gnomAD
rs749603823 CA390586027	682	P>T		No	ClinGen ExAC TOPMed gnomAD
CA7305109 rs755757376	683	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1442519766 CA390585938	687	A>V		No	ClinGen gnomAD
CA264584505 rs370944520	688	S>N		No	ClinGen ESP TOPMed
rs1404498010 CA390585914	689	C>S		No	ClinGen gnomAD
rs1454621423 CA390585898	690	V>A		No	ClinGen gnomAD
CA390585902 rs1172429506	690	V>I		No	ClinGen TOPMed gnomAD
rs150533632 CA7305107	692	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs756890311 CA7305106	692	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1357626034 CA390585859	693	M>I		No	ClinGen TOPMed
rs894654886 CA264584486	695	R>G		No	ClinGen TOPMed gnomAD
CA390585831 rs1183645575	695	R>M		No	ClinGen gnomAD
CA264584433 rs528016341	696	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs141706947 CA7305103	699	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7305101 rs377682810	700	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs377682810 CA7305102	700	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA7305100 rs760929262	700	R>H		No	ClinGen ExAC TOPMed gnomAD
CA264584390 rs888725242	701	W>*		No	ClinGen TOPMed
TCGA novel	702	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773365751 CA7305099	704	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1315866944 CA390585685	707	R>*		No	ClinGen gnomAD
CA7305098 COSM958620 rs565546203	707	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	708	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1334103183 CA390585657	709	G>C		No	ClinGen gnomAD
CA7305097 rs199643549	709	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA264584354 rs1043134642	710	E>K		No	ClinGen TOPMed gnomAD
rs1566686448 CA390585631	711	E>D		No	ClinGen Ensembl
CA7305094 rs749796977	714	R>C		No	ClinGen ExAC gnomAD
rs771864754 COSM252389 CA7305093	714	R>H	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs771864754 CA390585611	714	R>L		No	ClinGen ExAC TOPMed gnomAD
rs770110630 CA7305092	715	N>S		No	ClinGen ExAC gnomAD
rs185017125 CA7305091	719	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA390585576 rs1268665277	720	V>I		No	ClinGen gnomAD
rs1447456724 CA390585562	721	M>I		No	ClinGen gnomAD
rs1566686414 CA390585544	724	F>S		No	ClinGen Ensembl
rs922228851 CA264584323	725	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA7305090 rs747482883	726	G>D		No	ClinGen ExAC TOPMed gnomAD
rs201828484 CA264584289	728	E>A		No	ClinGen Ensembl
CA7305089 rs756988138	728	E>K		No	ClinGen ExAC gnomAD
rs144317062 CA7305088	729	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1194544616 CA390585477	730	S>F		No	ClinGen TOPMed
CA264584270 rs913260111	731	Q>E		No	ClinGen Ensembl
CA390585461 rs1224938706	732	L>I		No	ClinGen gnomAD
CA7305085 rs752628278	734	F>L		No	ClinGen ExAC gnomAD
CA7305083 rs1555359869	734	F>L		No	ClinGen Ensembl
CA390585419 rs1450437659	735	S>C		No	ClinGen gnomAD
rs1485742124 CA390585405	736	W>*		No	ClinGen TOPMed
rs1328686273 CA390585398	737	L>*		No	ClinGen gnomAD
rs1293930797 CA390585383	738	Q>R		No	ClinGen gnomAD
CA390585345 rs1595059617	741	I>T		No	ClinGen Ensembl
CA7305082 rs765067369	742	A>T		No	ClinGen ExAC gnomAD
CA7305063 rs375341446	750	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA390585170 rs778657185	752	N>I		No	ClinGen ExAC gnomAD
CA390585162 rs1271290412	752	N>K		No	ClinGen TOPMed gnomAD
rs778657185 CA7305062	752	N>S		No	ClinGen ExAC gnomAD
rs753534083 CA7305058	756	L>I		No	ClinGen ExAC TOPMed gnomAD
CA390585007 rs1357312117	758	S>C		No	ClinGen gnomAD
rs1439635118 CA390585001	759	Q>*		No	ClinGen gnomAD
CA390584974 rs1566685765	760	G>R		No	ClinGen Ensembl
TCGA novel	761	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1198595338 CA390584903	763	C>R		No	ClinGen gnomAD
rs757444794 CA7305056	763	C>S		No	ClinGen ExAC TOPMed gnomAD
CA390584899 rs757444794	763	C>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	764	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7305055 rs751834024	764	K>R		No	ClinGen ExAC gnomAD
TCGA novel	766	L>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA264583102 rs868439568	771	L>F		No	ClinGen TOPMed gnomAD
rs868439568 CA390584729	771	L>V		No	ClinGen TOPMed gnomAD
TCGA novel	773	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368549011 CA7305053	773	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	775	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA390584651 rs1328632986	775	E>G		No	ClinGen gnomAD
rs1446012675 CA390584641	776	N>D		No	ClinGen gnomAD
rs199765012 CA264583098	776	N>K		No	ClinGen TOPMed gnomAD
CA7305050 rs375535926	779	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs765616269 CA7305049	781	C>G		No	ClinGen ExAC gnomAD
CA7305048 rs777908634	781	C>Y		No	ClinGen ExAC gnomAD
CA390584426 rs1236481733	786	Y>C		No	ClinGen gnomAD
rs1178065636 CA390584376	788	H>Q		No	ClinGen TOPMed gnomAD
CA390584385 rs1253625221	788	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA390584325 rs771473107	791	W>*		No	ClinGen ExAC TOPMed gnomAD
rs771473107 CA7305046	791	W>L		No	ClinGen ExAC TOPMed gnomAD
rs371042690 CA264583047	792	L>S		No	ClinGen ESP
rs1595058850 CA390584302	793	L>V		No	ClinGen Ensembl
rs760393035 CA7305045	796	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1442213354 CA390584201	798	D>G		No	ClinGen gnomAD
rs1442213354 CA390584199	798	D>V		No	ClinGen gnomAD
CA390584189 rs1397008535	799	A>T		No	ClinGen TOPMed
rs147059607 CA7305043	801	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1595058804 CA390584131	802	V>G		No	ClinGen Ensembl
CA390584108 rs1161212214	804	D>G		No	ClinGen gnomAD
rs779808166 CA7305038	807	L>P		No	ClinGen ExAC gnomAD
CA7305039 rs749271263	807	L>V		No	ClinGen ExAC TOPMed gnomAD
rs544254630 CA390584068	808	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs544254630 CA7305037	808	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA264582926 rs544254630	808	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7305034 rs777910270	809	M>I		No	ClinGen ExAC
CA264582903 rs548265589	809	M>K		No	ClinGen gnomAD
rs1306232921 CA390584063	809	M>V		No	ClinGen TOPMed
CA7305032 rs758673832	812	S>G		No	ClinGen ExAC gnomAD
rs114253279 CA7305031	814	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA390583952 rs1595058744	818	S>P		No	ClinGen Ensembl
CA7305027 rs766846805	819	D>H		No	ClinGen ExAC TOPMed gnomAD
rs1243106199 CA390583923	820	L>F		No	ClinGen gnomAD
rs1218349684 CA616111854	821	C>*		No	ClinGen gnomAD
CA390583891 rs1489107549	823	L>F		No	ClinGen gnomAD
rs771584343 CA7305024	827	Y>C		No	ClinGen ExAC gnomAD
rs771584343 CA7305025	827	Y>S		No	ClinGen ExAC gnomAD
rs140496409 CA7305021	832	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7305022 rs140496409	832	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs779897864 CA7305019	834	L>P		No	ClinGen ExAC TOPMed gnomAD
CA7305020 rs541596816	834	L>V		No	ClinGen ExAC TOPMed gnomAD
rs755555174 CA7305018	835	S>L		No	ClinGen ExAC TOPMed gnomAD
rs138749229 CA390583814	836	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs138749229 CA7305017	836	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs781075120 CA7305016	838	V>M		No	ClinGen ExAC gnomAD
CA7305015 rs758521891	839	R>T		No	ClinGen ExAC TOPMed gnomAD
CA390583790 rs1595058669	840	R>G		No	ClinGen Ensembl
CA7305013 rs778845537	841	A>P		No	ClinGen ExAC gnomAD
rs778845537 CA390583783	841	A>T		No	ClinGen ExAC gnomAD
CA390583779 rs1477055683	841	A>V		No	ClinGen gnomAD
CA390583773 rs1262839904	842	A>V		No	ClinGen gnomAD
rs753974189 CA7305011	843	T>I		No	ClinGen ExAC gnomAD
CA264582736 rs113611150	844	A>S		No	ClinGen Ensembl
CA7305010 rs766936764	845	R>*		No	ClinGen ExAC TOPMed gnomAD
rs756718587 CA264582716	845	R>L		No	ClinGen ExAC TOPMed gnomAD
CA7305009 rs756718587	845	R>P		No	ClinGen ExAC TOPMed gnomAD
CA390583761 rs756718587	845	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7305007 rs767974179	847	V>A		No	ClinGen ExAC gnomAD
rs750783806 CA7305008	847	V>I		No	ClinGen ExAC TOPMed gnomAD
rs766871563 CA264582700	849	I>M		No	ClinGen Ensembl
rs761357790 CA7305006	849	I>V		No	ClinGen ExAC gnomAD
CA390583720 rs1371077639	852	K>R		No	ClinGen gnomAD
rs763653435 CA7305004	854	T>I		No	ClinGen ExAC gnomAD
CA7305005 rs774115673	854	T>S		No	ClinGen ExAC gnomAD
CA264582693 rs975546360	855	E>K		No	ClinGen gnomAD
rs573919799 CA7305003	856	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA264582680 rs573919799	856	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs745848812 CA7305000	858	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1375161640 CA390583683	858	P>L		No	ClinGen Ensembl
rs745848812 CA7305001	858	P>T		No	ClinGen ExAC TOPMed gnomAD
rs533874068 CA7304998	859	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748314231 CA7304997	860	G>R		No	ClinGen ExAC
CA7304996 rs779126055	863	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1423411059 CA390583654	863	T>I		No	ClinGen gnomAD
CA390583639 TCGA novel rs1177558004	865	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
rs1269003870 CA390583623	868	A>P		No	ClinGen gnomAD
CA390583614 rs1487875240	869	V>A		No	ClinGen TOPMed gnomAD
rs1566685384 CA390583618	869	V>I		No	ClinGen Ensembl
rs749339210 CA7304993	870	H>N		No	ClinGen ExAC gnomAD
rs77372147 CA264582628	872	L>F		No	ClinGen Ensembl
CA7304991 rs756667273	875	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs142600051 CA7304990	875	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA7304988 rs370230886	877	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs370230886 CA7304989	877	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA264582612 rs116700647	880	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762627864 CA390583511	881	A>S		No	ClinGen ExAC TOPMed gnomAD
CA7304985 COSM1198048 rs762627864	881	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA390583477 rs1193391851	884	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA390583473 rs1400203136	885	C>S		No	ClinGen gnomAD
rs1292259925 CA390583469	885	C>Y		No	ClinGen TOPMed
rs373608673 CA264582585	886	L>V		No	ClinGen ESP
TCGA novel	888	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764780577 CA7304982	890	C>S		No	ClinGen ExAC TOPMed gnomAD
COSM3377477 CA390583370 rs1173555831	893	N>S	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1478576635 CA390583362	894	P>S		No	ClinGen gnomAD
rs1432186207 CA390583354	895	A>P		No	ClinGen TOPMed gnomAD
CA7304978 rs183000861	898	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7304975 rs142250129	902	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149141901 CA7304974	902	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7304972 rs149880900	907	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs781679590 CA7304971	908	K>E		No	ClinGen ExAC gnomAD
CA7304968 rs368961715	911	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139075392 CA7304969	911	M>T		No	ClinGen ESP ExAC gnomAD
rs1415026706 CA390583097	913	F>V		No	ClinGen TOPMed
CA390583080 rs1302614584	914	Q>R		No	ClinGen gnomAD
rs918555961 CA264582462	917	T>I		No	ClinGen TOPMed
rs201260122 CA7304966	918	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA390582999 rs1159994336	920	I>T		No	ClinGen gnomAD
rs1360762810 CA390583006	920	I>V		No	ClinGen gnomAD
rs764725562 CA7304965	921	D>G		No	ClinGen ExAC TOPMed gnomAD
CA7304964 rs759019245	923	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7304963 rs753303080	924	V>M		No	ClinGen ExAC gnomAD
CA7304960 rs773036529	926	I>T		No	ClinGen ExAC gnomAD
CA7304961 rs760569144	926	I>V		No	ClinGen ExAC gnomAD
rs912636298 CA264582448	927	Y>H		No	ClinGen TOPMed
CA7304958 VAR_062239 rs59039343 RCV000972885	928	E>K		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA390582829 rs770150434 CA7304956	930	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
rs770150434 CA7304957	930	V>M		No	ClinGen ExAC TOPMed gnomAD
rs116195915 CA7304954	931	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA390582787 rs1595058387	932	A>G		No	ClinGen Ensembl
rs570825290 CA7304951	934	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs570825290 CA390582747	934	L>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747521113 CA7304952	934	L>V		No	ClinGen ExAC gnomAD
rs1595058366 CA390582718	936	S>C		No	ClinGen Ensembl
rs753064985 CA7304949	937	S>C		No	ClinGen ExAC TOPMed gnomAD
rs1238256410 CA390582688	938	V>I		No	ClinGen TOPMed
CA390582667 rs1483165385	939	F>V		No	ClinGen TOPMed
rs146392222 CA7304947	940	P>T		No	ClinGen ESP ExAC
rs754611965 CA7304946	942	G>A		No	ClinGen ExAC gnomAD
CA7304945 rs753350454	943	S>P		No	ClinGen ExAC gnomAD
rs143522507 CA390582560	945	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750452575 CA7304942	945	E>G		No	ClinGen ExAC TOPMed gnomAD
rs143522507 CA264582372	945	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7304943 rs143522507	945	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7304940 rs761640216	946	G>A		No	ClinGen ExAC TOPMed gnomAD
CA390582521 rs761640216	946	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1290731700 CA390582511	947	D>H		No	ClinGen gnomAD
TCGA novel	949	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759714934 CA7304937	950	S>N		No	ClinGen ExAC gnomAD
rs776754050 CA7304936	951	S>F		No	ClinGen ExAC gnomAD
CA390582426 rs770977338	952	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs747550812 CA7304934	953	S>G		No	ClinGen ExAC gnomAD
rs772582454 CA7304932	954	W>G		No	ClinGen ExAC TOPMed gnomAD
rs772582454 CA7304933	954	W>R		No	ClinGen ExAC TOPMed gnomAD
rs372516369 CA7304931	955	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs960766025 CA264582287	956	S>N		No	ClinGen TOPMed
TCGA novel	959	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1033416934 CA264582279	959	E>K		No	ClinGen TOPMed gnomAD
CA7304929 rs563096641	960	A>G		No	ClinGen ExAC TOPMed gnomAD
CA7304928 rs748949628	961	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	962	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200896137 CA7304925	966	T>M		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	967	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1449944698 CA390582229 CA390582227	967	S>R		No	ClinGen gnomAD
rs1311767530 CA390582224	968	L>V		No	ClinGen TOPMed
rs757288353 CA7304923	971	F>I		No	ClinGen ExAC gnomAD
rs1261083849 CA390582195	971	F>S		No	ClinGen TOPMed gnomAD
CA7304921 rs374091042 CA390582163	973	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs751366687 CA7304922	973	M>V		No	ClinGen ExAC gnomAD
rs1218394127 CA390582151	975	V>M		No	ClinGen gnomAD
rs1188543024	976	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA390582132 rs1595058234	976	S>N		No	ClinGen Ensembl
CA390582099 rs1346079857	978	Y>H		No	ClinGen TOPMed gnomAD
CA7304920 rs759793778	979	P>A		No	ClinGen ExAC gnomAD
rs776788220 CA7304919	979	P>L		No	ClinGen ExAC gnomAD
rs760689973 CA7304917	980	L>P		No	ClinGen ExAC gnomAD
CA264582166 rs1037471010	982	P>R		No	ClinGen TOPMed
rs773303097 CA7304916	983	L>V		No	ClinGen ExAC gnomAD
rs772529398 CA7304915	984	R>*		No	ClinGen ExAC gnomAD
rs149143718 CA7304914	984	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7304913 rs577751462	985	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1595058191 CA390582027	986	A>G		No	ClinGen Ensembl
rs868810495 CA264582153	986	A>S		No	ClinGen Ensembl
CA7304912 rs201095043	988	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7304911 rs138198112	989	Q>*		No	ClinGen ESP ExAC gnomAD
rs201423320 CA7304910	989	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA7304909 rs755808611	990	A>S		No	ClinGen ExAC gnomAD
CA7304908 rs745327690	990	A>V		No	ClinGen ExAC gnomAD
CA264582130 rs891247003	991	L>S		No	ClinGen TOPMed gnomAD
rs139914753 CA7304906	992	K>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA390581977 rs1318536420 COSM958616	992	K>Q	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs139914753 CA7304907	992	K>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751606683 CA7304905	995	P>T		No	ClinGen ExAC gnomAD
CA7304903 rs758065500	997	N>K		No	ClinGen ExAC gnomAD
rs775219775 CA7304904	997	N>S		No	ClinGen ExAC gnomAD
rs775219775 CA264582105	997	N>T		No	ClinGen ExAC gnomAD
CA7304902 rs147070944	999	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs147070944 CA390581911	999	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1000	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA390581894 rs1240227166	1001	W>C		No	ClinGen gnomAD
rs201946043 CA7304900	1003	S>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1359551136 CA390581876	1004	Y>C		No	ClinGen gnomAD
rs1413025200 CA390581864	1006	Q>*		No	ClinGen gnomAD
CA390581862 rs1367210491	1006	Q>R		No	ClinGen TOPMed
CA7304899 rs773247638	1007	I>F		No	ClinGen ExAC gnomAD
CA390581855 rs1441623086	1007	I>T		No	ClinGen gnomAD
CA7304898 rs767639734	1008	Q>*		No	ClinGen ExAC
CA390581841 rs1467537917	1009	N>S		No	ClinGen gnomAD
rs762301795 CA7304897	1010	K>*		No	ClinGen ExAC TOPMed gnomAD
CA390581828 rs1330320707	1011	S>A		No	ClinGen TOPMed
CA7304896 rs554902904	1013	S>G		No	ClinGen 1000Genomes ExAC gnomAD
CA390581814 rs1473398688	1013	S>N		No	ClinGen gnomAD
CA264582049 rs200362521	1014	A>G		No	ClinGen gnomAD
rs979673955 CA264582047	1016	K>N		No	ClinGen TOPMed gnomAD
CA264582046 rs1051907531	1017	T>I		No	ClinGen Ensembl
CA7304895 rs200990530	1017	T>P		No	ClinGen ExAC TOPMed gnomAD
CA7304894 rs763175244	1020	F>L		No	ClinGen ExAC gnomAD
CA390581768 rs1470180054	1020	F>S		No	ClinGen TOPMed
rs775950590 CA7304893	1021	F>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1022	D>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769537017 CA7304892	1023	T>K		No	ClinGen ExAC gnomAD
CA390581741 rs1566684850	1024	I>N		No	ClinGen Ensembl
CA390581743 rs1283205484	1024	I>V		No	ClinGen gnomAD
rs780839133 CA7304890	1026	R>G		No	ClinGen ExAC gnomAD
rs770635151 CA7304889	1026	R>K		No	ClinGen ExAC TOPMed gnomAD
CA390581721 rs1566684837	1027	S>F		No	ClinGen Ensembl
CA264582019 rs374345765	1028	A>V		No	ClinGen ESP TOPMed
CA7304887 rs777517900	1030	P>R		No	ClinGen ExAC TOPMed gnomAD
rs756308982 CA7304884	1032	E>D		No	ClinGen ExAC gnomAD
TCGA novel	1032	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1033	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs945603736 CA264581983	1033	P>L		No	ClinGen TOPMed
rs1416572335 CA390581668	1035	L>F		No	ClinGen gnomAD
CA390581670 rs1406527986	1035	L>W		No	ClinGen gnomAD
rs1180564502 CA390581658	1037	A>T		No	ClinGen gnomAD
rs146015101 CA7304882	1038	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767729512 CA7304881	1042	K>N		No	ClinGen ExAC TOPMed gnomAD
CA390581602 rs1489055924	1045	K>R		No	ClinGen TOPMed gnomAD
TCGA novel	1046	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751681290 CA7304879	1046	R>T		No	ClinGen ExAC gnomAD
CA7304878 rs553168136	1048	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763551783 CA7304877	1049	E>K		No	ClinGen ExAC gnomAD
CA7304876 rs775693235	1051	V>A		No	ClinGen ExAC gnomAD
rs759260251 CA7304874	1052	Q>H		No	ClinGen ExAC gnomAD
rs770338537 CA7304875	1052	Q>R		No	ClinGen ExAC gnomAD
rs201924235 CA7304844	1056	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs144412283 CA7304841	1061	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs900283211 CA264580203	1063	I>V		No	ClinGen TOPMed
CA7304840 rs758440381	1064	P>L		No	ClinGen ExAC TOPMed gnomAD
rs758440381 CA7304839	1064	P>R		No	ClinGen ExAC TOPMed gnomAD
CA7304836 rs567915458	1065	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs868195426 CA264580152	1067	G>D		No	ClinGen Ensembl
CA7304832 rs370281803	1067	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs267604083 CA264580142	1070	H>Q		No	ClinGen Ensembl
CA7304829 rs761336895	1071	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs767087430 CA7304830	1071	R>W		No	ClinGen ExAC TOPMed gnomAD
CA7304828 rs773877964	1072	I>M		No	ClinGen ExAC TOPMed gnomAD
CA7304826 rs749271366	1080	M>T		No	ClinGen ExAC gnomAD
CA7304825 rs116980182	1081	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7304824 COSM3744470 rs528197535	1081	R>H	Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA390580766 rs528197535	1081	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1409748045 CA390580764	1082	S>G		No	ClinGen TOPMed
CA264580043 rs980113434	1082	S>N		No	ClinGen TOPMed gnomAD
CA390580755 rs1238656018	1083	D>G		No	ClinGen gnomAD
rs376798752 CA7304821	1083	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs748199867 CA7304820	1084	S>G		No	ClinGen ExAC TOPMed gnomAD
CA264579997 rs779179256	1084	S>R		No	ClinGen ExAC TOPMed gnomAD
CA264579994 rs963578834	1086	S>I		No	ClinGen TOPMed gnomAD
TCGA novel	1086	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148410546 CA7304818	1087	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA390580703 rs1324142305	1091	L>V		No	ClinGen TOPMed
CA390580693 rs1310770953	1092	W>*		No	ClinGen gnomAD
CA390580690 rs1595056524	1093	R>G		No	ClinGen Ensembl
CA7304815 rs756440981	1093	R>K		No	ClinGen ExAC gnomAD
CA7304813 rs767154198	1094	M>I		No	ClinGen ExAC gnomAD
rs750772758 CA7304814	1094	M>L		No	ClinGen ExAC gnomAD
CA7304794 rs756889173	1101	S>F		No	ClinGen ExAC TOPMed gnomAD
CA390596538 rs1271576387	1103	G>E		No	ClinGen gnomAD
CA390596539 rs1271576387	1103	G>V		No	ClinGen gnomAD
rs1031952503 CA264629805	1104	N>S		No	ClinGen gnomAD
rs751277590 CA7304792	1106	E>*		No	ClinGen ExAC
rs890931707 CA264629786	1106	E>G		No	ClinGen Ensembl
CA7304791 rs763738309	1107	R>S		No	ClinGen ExAC gnomAD
CA7304788 rs753075381	1109	K>R		No	ClinGen ExAC TOPMed gnomAD
rs765181892 CA7304787	1110	G>D		No	ClinGen ExAC TOPMed gnomAD
rs373588042 CA264629758	1113	Y>H		No	ClinGen ESP
CA7304785 rs776468734	1114	K>R		No	ClinGen ExAC gnomAD
rs1378322571 CA390596454	1116	L>F		No	ClinGen gnomAD
CA7304783 rs3737035 VAR_060343	1118	N>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA390596423 rs1451581426	1120	P>R		No	ClinGen TOPMed
CA390596103 rs1240848959	1124	V>L		No	ClinGen gnomAD
CA390596051 rs1277620963	1128	D>N		No	ClinGen gnomAD
CA7304756 rs776488985	1129	A>S		No	ClinGen ExAC TOPMed gnomAD
rs776488985 CA7304755	1129	A>T		No	ClinGen ExAC TOPMed gnomAD
rs139694903 CA7304751	1130	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7304748 rs201062537	1133	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1595051400 CA390595942	1134	P>A		No	ClinGen Ensembl
CA390595906 CA390595903 rs1406434052	1135	D>E		No	ClinGen TOPMed gnomAD
rs377201570 CA7304745	1135	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs747048338 CA264628759	1136	E>D		No	ClinGen TOPMed gnomAD
rs763231863 CA7304744	1136	E>K		No	ClinGen ExAC gnomAD
rs201104859 CA264628738	1137	M>I		No	ClinGen 1000Genomes TOPMed gnomAD
rs775507521 CA7304743	1137	M>L		No	ClinGen ExAC gnomAD
rs1189678779 CA390595869	1137	M>T		No	ClinGen gnomAD
CA7304742 rs765508701	1138	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA7304740 rs776805454	1140	I>N		No	ClinGen ExAC gnomAD
CA7304741 rs776805454	1140	I>T		No	ClinGen ExAC gnomAD
rs771398056 CA7304739	1141	L>V		No	ClinGen ExAC TOPMed gnomAD
rs747565322 CA7304737	1142	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1156346413 CA390595774	1142	D>N		No	ClinGen TOPMed
CA7304735 rs772496651	1146	E>A		No	ClinGen ExAC gnomAD
TCGA novel	1149	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748554252 CA7304734	1149	L>V		No	ClinGen ExAC gnomAD
CA264628667 rs78302825	1150	R>G		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs201878322 CA7304732 COSM958614	1150	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA7304733 rs78302825 COSM433459	1150	R>W	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA gnomAD
rs748714522 CA7304731	1152	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7304730 rs756103194	1152	R>H		No	ClinGen ExAC TOPMed gnomAD
rs756103194 CA7304729	1152	R>P		No	ClinGen ExAC TOPMed gnomAD
COSM243293 CA7304727 rs781279325	1154	P>L	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA7304728 rs781279325	1154	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1474059643 CA390595578	1155	L>P		No	ClinGen gnomAD
CA390595501 rs1203964369	1159	E>D		No	ClinGen gnomAD
CA264628645 rs1039648672	1160	L>M		No	ClinGen gnomAD
CA264628641 rs941218122	1162	L>P		No	ClinGen Ensembl
TCGA novel	1163	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA390595453 rs1595051272	1163	E>G		No	ClinGen Ensembl
rs983012595 CA264628618	1164	D>G		No	ClinGen Ensembl
CA264628632 rs369261711	1164	D>H		No	ClinGen ESP
rs369261711 CA390595437	1164	D>N		No	ClinGen ESP

No associated diseases with Q9H7Z3

No regional properties for Q9H7Z3

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9H7Z3

Functions

		Description
EC Number
Subcellular Localization	Nucleus speckle Nucleus, nucleolus Nucleus, nucleoplasm Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
nuclear speck	A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
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.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

8 GO annotations of biological process

Name	Definition
cell division	The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells.
cellular response to DNA damage stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism.
mitotic cell cycle	Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent.
mRNA processing	Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide.
negative regulation of RNA catabolic process	Any process that stops, prevents or reduces the frequency, rate or extent of RNA catabolic process.
positive regulation of RNA export from nucleus	Any process that activates or increases the frequency, rate or extent of directed movement of RNA from the nucleus into the cytoplasm.
post-transcriptional gene silencing by RNA	A posttranscriptional gene silencing pathway in which regulatory RNAs elicit silencing of specific target genes, either by mRNA destabilization or inhibition of translation.
RNA splicing	The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q80XC6	Nrde2	Nuclear exosome regulator NRDE2	Mus musculus (Mouse)	PR
G5EG51	nrde-2	Nuclear exosome regulator NRDE2	Caenorhabditis elegans	PR

10	20	30	40	50	60
MALFPAFAGL	SEAPDGGSSR	KELDWLSNPS	FCVGSITSLS	QQTEAAPAHV	SEGLPLTRSH
70	80	90	100	110	120
LKSESSDESD	TNKKLKQTSR	KKKKEKKKKR	KHQHHKKTKR	KHGPSSSSRS	ETDTDSEKDK
130	140	150	160	170	180
PSRGVGGSKK	ESEEPNQGNN	AAADTGHRFV	WLEDIQAVTG	ETFRTDKKPD	PANWEYKSLY
190	200	210	220	230	240
RGDIARYKRK	GDSCLGINPK	KQCISWEGTS	TEKKHSRKQV	ERYFTKKSVG	LMNIDGVAIS
250	260	270	280	290	300
SKTEPPSSEP	ISFIPVKDLE	DAAPVTTWLN	PLGIYDQSTT	HWLQGQGPPE	QESKQPDAQP
310	320	330	340	350	360
DSESAALKAK	VEEFNRRVRE	NPRDTQLWMA	FVAFQDEVMK	SPGLYAIEEG	EQEKRKRSLK
370	380	390	400	410	420
LILEKKLAIL	ERAIESNQSS	VDLKLAKLKL	CTEFWEPSTL	VKEWQKLIFL	HPNNTALWQK
430	440	450	460	470	480
YLLFCQSQFS	TFSISKIHSL	YGKCLSTLSA	VKDGSILSHP	ALPGTEEAMF	ALFLQQCHFL
490	500	510	520	530	540
RQAGHSEKAI	SLFQAMVDFT	FFKPDSVKDL	PTKGQVEFFE	PFWDSGEPRA	GEKGARGWKA
550	560	570	580	590	600
WMHQQERGGW	VVINPDEDDD	EPEEDDQEIK	DKTLPRWQIW	LAAERSRDQR	HWRPWRPDKT
610	620	630	640	650	660
KKQTEEDCED	PERQVLFDDI	GQSLIRLSSH	DLQFQLVEAF	LQFLGVPSGF	TPPASCLYLA
670	680	690	700	710	720
MDENSIFDNG	LYDEKPLTFF	NPLFSGASCV	GRMDRLGYPR	WTRGQNREGE	EFIRNVFHLV
730	740	750	760	770	780
MPLFSGKEKS	QLCFSWLQYE	IAKVIWCLHT	KNKKRLKSQG	KNCKKLAKNL	LKEPENCNNF
790	800	810	820	830	840
CLWKQYAHLE	WLLGNTEDAR	KVFDTALGMA	GSRELKDSDL	CELSLLYAEL	EVELSPEVRR
850	860	870	880	890	900
AATARAVHIL	TKLTESSPYG	PYTGQVLAVH	ILKARKAYEH	ALQDCLGDSC	VSNPAPTDSC
910	920	930	940	950	960
SRLISLAKCF	MLFQYLTIGI	DAAVQIYEQV	FAKLNSSVFP	EGSGEGDSAS	SQSWTSVLEA
970	980	990	1000	1010	1020
ITLMHTSLLR	FHMKVSVYPL	APLREALSQA	LKLYPGNQVL	WRSYVQIQNK	SHSASKTRRF
1030	1040	1050	1060	1070	1080
FDTITRSAKP	LEPWLFAIEA	EKLRKRLVET	VQRLDGREIH	ATIPETGLMH	RIQALFENAM
1090	1100	1110	1120	1130	1140
RSDSGSQCPL	LWRMYLNFLV	SLGNKERSKG	VFYKALQNCP	WAKVLYLDAV	EYFPDEMQEI
1150	1160
LDLMTEKELR	VRLPLEELEL	LLED