AiPD: Autoinhibited Protein Database

Q9BZE4

Gene name	GTPBP4 (CRFG, NOG1)
Protein name	GTP-binding protein 4
Names	Chronic renal failure gene protein, GTP-binding protein NGB, Nucleolar GTP-binding protein 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23560
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

505-607 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

505-607 (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

38 structures for Q9BZE4

Entry ID	Method	Resolution	Chain	Position	Source
6LSS	EM	323 A	4	1-634	PDB
6LU8	EM	313 A	4	1-634	PDB
8FKP	EM	285 A	SR	1-634	PDB
8FKQ	EM	276 A	SR	1-634	PDB
8FKR	EM	289 A	SR	1-634	PDB
8FKS	EM	288 A	SR	1-634	PDB
8FKT	EM	281 A	SR	1-634	PDB
8FKU	EM	282 A	SR	1-634	PDB
8FKV	EM	247 A	SR	1-634	PDB
8FKW	EM	250 A	SR	1-634	PDB
8FKX	EM	259 A	SR	1-634	PDB
8FKY	EM	267 A	SR	1-634	PDB
8FKZ	EM	304 A	SR	1-634	PDB
8FL0	EM	291 A	SR	1-634	PDB
8FL2	EM	267 A	SR	1-634	PDB
8FL3	EM	253 A	SR	1-634	PDB
8FL4	EM	289 A	SR	1-634	PDB
8FL6	EM	262 A	SR	1-634	PDB
8FL7	EM	255 A	SR	1-634	PDB
8FL9	EM	275 A	SR	1-634	PDB
8FLA	EM	263 A	SR	1-634	PDB
8FLB	EM	255 A	SR	1-634	PDB
8FLC	EM	276 A	SR	1-634	PDB
8FLD	EM	258 A	SR	1-634	PDB
8FLE	EM	248 A	SR	1-634	PDB
8FLF	EM	265 A	SR	1-634	PDB
8IDT	EM	280 A	4	1-634	PDB
8IDY	EM	300 A	4	1-634	PDB
8IE3	EM	330 A	4	1-634	PDB
8INE	EM	320 A	4	1-634	PDB
8INF	EM	300 A	4	1-634	PDB
8INK	EM	320 A	4	1-634	PDB
8IPD	EM	320 A	4	1-634	PDB
8IPX	EM	430 A	4	1-634	PDB
8IPY	EM	320 A	4	1-634	PDB
8IR1	EM	330 A	4	1-634	PDB
8IR3	EM	350 A	4	1-634	PDB
AF-Q9BZE4-F1	Predicted				AlphaFoldDB

573 variants for Q9BZE4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA201963341 rs943546292	2	A>T		No	ClinGen TOPMed gnomAD
rs1039461591 CA201963342	3	H>Q		No	ClinGen Ensembl
CA5382432 rs201985705	3	H>R		No	ClinGen 1000Genomes ExAC TOPMed
rs756809122 CA375841706	5	N>K		No	ClinGen ExAC gnomAD
CA201963343 rs573082203	5	N>S		No	ClinGen TOPMed gnomAD
CA5382436 rs745307990	6	F>L		No	ClinGen ExAC gnomAD
rs200513076 CA5382435	6	F>S		No	ClinGen 1000Genomes ExAC gnomAD
rs41294950 CA201963344	7	K>Q		No	ClinGen Ensembl
rs1589020075 CA375841717	7	K>R		No	ClinGen Ensembl
rs1256818267 CA375841721	8	K>E		No	ClinGen TOPMed
TCGA novel	8	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375841725 rs1311687308	8	K>R		No	ClinGen gnomAD
CA375841731 rs1222021344	9	I>F		No	ClinGen Ensembl
rs933658672 CA201963345	9	I>M		No	ClinGen Ensembl
rs1420155815 CA375841733	9	I>T		No	ClinGen gnomAD
rs1290573982 CA375841737	10	T>A		No	ClinGen gnomAD
CA5382437 rs769837222	10	T>K		No	ClinGen ExAC TOPMed gnomAD
CA375841738 rs769837222	10	T>M		No	ClinGen ExAC TOPMed gnomAD
CA201963347 rs886764377	11	V>M		No	ClinGen gnomAD
rs779949170 CA5382438	12	V>L		No	ClinGen ExAC TOPMed gnomAD
CA375841751 rs1319587593	13	P>A		No	ClinGen gnomAD
CA201963348 rs144664436	13	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA5382441 rs144664436	13	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5382442 rs144664436	13	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1292031381 CA375841754	14	S>A		No	ClinGen TOPMed gnomAD
CA201963349 rs771003947	14	S>C		No	ClinGen ExAC TOPMed gnomAD
rs771003947 CA5382443	14	S>F		No	ClinGen ExAC TOPMed gnomAD
rs78632552 CA5382445	16	K>E		No	ClinGen ExAC gnomAD
rs201885506 CA5382446	16	K>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA201963352 rs78632552	16	K>Q		No	ClinGen ExAC gnomAD
rs201885506 CA201963353	16	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA5382463 rs776704401	17	D>N		No	ClinGen ExAC TOPMed
rs746010840 CA5382464	18	F>I		No	ClinGen ExAC TOPMed gnomAD
CA201963859 rs746010840	18	F>L		No	ClinGen ExAC TOPMed gnomAD
CA5382465 rs61731091	20	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	20	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1400538433 CA375842206	22	T>M		No	ClinGen gnomAD
rs763565606 CA5382467	24	S>L		No	ClinGen ExAC gnomAD
CA5382469 rs774844408	28	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA375842253 rs1479654091	29	K>R		No	ClinGen TOPMed
CA5382471 rs150687511	33	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375842289 rs1257558050	35	H>R		No	ClinGen TOPMed gnomAD
rs374198452 CA201963861	35	H>Y		No	ClinGen ESP TOPMed
rs1206971152 CA375842302	37	H>D		No	ClinGen gnomAD
rs765893234 CA5382474	37	H>R		No	ClinGen ExAC gnomAD
CA375842311 rs1458160945	38	Y>C		No	ClinGen TOPMed
CA201963862 rs1043069482	41	H>R		No	ClinGen TOPMed gnomAD
CA5382476 rs754918027	42	R>C		No	ClinGen ExAC gnomAD
rs149570877 CA5382478	42	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5382477 rs149570877	42	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375842351 rs1234992037	44	R>K		No	ClinGen TOPMed
CA201963864 rs200777090	45	H>R		No	ClinGen TOPMed gnomAD
CA375842357 rs1333567953	45	H>Y		No	ClinGen TOPMed
rs1411224367 CA375842369	46	F>L		No	ClinGen gnomAD
rs201677153 CA5382479	48	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs201677153 CA375842378	48	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA201963865 rs568426424	52	K>E		No	ClinGen Ensembl
rs1348447815 CA375842409	52	K>R		No	ClinGen gnomAD
CA201963866 rs751616017	55	Q>E		No	ClinGen Ensembl
rs781518215 CA5382480	55	Q>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	56	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375842450 rs1347915171	58	Y>N		No	ClinGen gnomAD
rs573012981 CA5382482	59	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780283354 CA5382483	60	D>E		No	ClinGen ExAC gnomAD
rs994704563 CA201963868	60	D>G		No	ClinGen Ensembl
CA201963867 rs901349962	60	D>N		No	ClinGen Ensembl
TCGA novel	65	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1468609030 CA375842503	65	I>M		No	ClinGen TOPMed
rs143786906 CA5382485	67	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375842515 rs1589022274	68	D>H		No	ClinGen Ensembl
rs950419680 CA201963869	70	P>L		No	ClinGen Ensembl
CA375842539 rs1293740011	71	K>R		No	ClinGen gnomAD
rs1293740011 CA375842538	71	K>T		No	ClinGen gnomAD
CA5382488 rs772351092	73	D>V		No	ClinGen ExAC TOPMed gnomAD
CA201964242 rs981687831	74	D>E		No	ClinGen TOPMed
rs1374328373 CA375842910	74	D>Y		No	ClinGen TOPMed gnomAD
rs751456795 CA5382516	75	I>V		No	ClinGen ExAC gnomAD
rs757095974 CA5382517	76	H>L		No	ClinGen ExAC TOPMed gnomAD
COSM682401 rs1352734265 CA375842959	77	P>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs896877809 CA201964244	79	Y>C		No	ClinGen TOPMed gnomAD
rs535536805 CA201964245	81	D>N		No	ClinGen Ensembl
CA375843022 rs1205120876	82	L>V		No	ClinGen gnomAD
rs1337089751 CA375843029	82	L>W		No	ClinGen TOPMed gnomAD
rs1236015804 CA375843037	83	M>V		No	ClinGen gnomAD
rs1457075234 CA375843060	84	N>S		No	ClinGen TOPMed gnomAD
rs1457075234 CA375843059	84	N>T		No	ClinGen TOPMed gnomAD
rs1181512836 CA375843071	85	I>V		No	ClinGen gnomAD
rs754140509 CA5382519	87	Y>C		No	ClinGen ExAC gnomAD
CA375843109 rs1171347091 COSM266649	88	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA5382521 rs778869813	89	K>R		No	ClinGen ExAC gnomAD
CA375843145 rs1269610390	90	D>Y		No	ClinGen TOPMed
CA5382522 rs748194519	91	H>R		No	ClinGen ExAC TOPMed gnomAD
CA201964246 COSM108068 rs141121079	91	H>Y	Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA201964247 rs991443799	92	Y>C		No	ClinGen TOPMed
CA5382525 rs747427759	95	A>S		No	ClinGen ExAC gnomAD
CA201964248 rs200251115	97	G>R		No	ClinGen ESP TOPMed gnomAD
CA5382526 rs771254822	99	I>L		No	ClinGen ExAC gnomAD
CA5382527 rs776941368	100	N>D		No	ClinGen ExAC gnomAD
rs1407796647 CA375843292	102	A>G		No	ClinGen TOPMed
rs745530650 CA5382528	102	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1274207100 CA375843304	104	N>D		No	ClinGen gnomAD
rs769431730 CA375843311	105	L>V		No	ClinGen ExAC TOPMed gnomAD
CA5382531 rs762509420	106	V>A		No	ClinGen ExAC gnomAD
CA5382530 rs774928310	106	V>M		No	ClinGen ExAC gnomAD
CA375843326 rs1167982393	107	D>V		No	ClinGen TOPMed
rs370212715 CA375843333	108	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs370212715 CA375843332	108	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs370212715 CA5382532	108	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA201964255 rs1050705762	110	A>T		No	ClinGen TOPMed
CA5382551 rs747549306	115	R>Q		No	ClinGen ExAC gnomAD
CA201964256 rs977866472	117	M>L		No	ClinGen Ensembl
rs1564466092 CA375843425	120	G>D		No	ClinGen Ensembl
rs1208406995 CA375843434	121	D>E		No	ClinGen TOPMed gnomAD
rs746179159 CA5382554	121	D>N		No	ClinGen ExAC TOPMed gnomAD
rs746179159 CA375843429	121	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA375843443 rs1490654721	123	L>F		No	ClinGen gnomAD
CA5382555 rs769387295	125	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5382556 rs374244248 COSM1561006	125	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA375843462 rs1374974071	126	C>Y		No	ClinGen gnomAD
CA5382557 rs748784404	127	K>T		No	ClinGen ExAC TOPMed gnomAD
rs768308906 CA5382558	131	R>C		No	ClinGen ExAC gnomAD
rs201468419 CA5382559	131	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs761854852 CA5382560	132	A>V		No	ClinGen ExAC TOPMed gnomAD
rs552497669 CA201964257	133	A>T		No	ClinGen gnomAD
CA5382562 rs772950204	136	R>W		No	ClinGen ExAC TOPMed gnomAD
CA5382563 rs760507044	137	M>I		No	ClinGen ExAC TOPMed gnomAD
CA375843528 rs1183177773	137	M>T		No	ClinGen TOPMed
rs1407652622 CA375843525	137	M>V		No	ClinGen TOPMed
rs765427498 CA5382564	139	T>I		No	ClinGen ExAC gnomAD
rs1314719181 CA375843540	139	T>P		No	ClinGen gnomAD
rs370446156 CA5382566	141	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs149909914 CA5382567	142	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1205769735 CA375843561	142	K>R		No	ClinGen gnomAD
rs1205769735 CA375843562	142	K>T		No	ClinGen gnomAD
CA5382568 rs751584423	143	R>G		No	ClinGen ExAC gnomAD
CA201964258 rs1036560174	143	R>K		No	ClinGen TOPMed
CA375843572 rs1183232069	144	Q>R		No	ClinGen gnomAD
rs757768219 CA5382569	145	K>E		No	ClinGen ExAC gnomAD
CA201964260 rs201953115	146	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs958602588 CA201964261	147	S>C		No	ClinGen TOPMed
rs991805261 CA201964262	147	S>N		No	ClinGen TOPMed
CA375843631 rs1414831594	152	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA5382573 rs556154599	153	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs770719815 COSM3806357 CA5382599	154	V>A	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1178848625 CA375843660	155	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5382600 rs144873366	155	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1480081633 CA375843668	156	Q>R		No	ClinGen gnomAD
rs1199434225 CA375843676	157	H>R		No	ClinGen gnomAD
CA5382601 rs202054687	163	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1463729133 CA375843714	163	T>N		No	ClinGen gnomAD
CA375843721 rs1415840227	164	I>T		No	ClinGen TOPMed
rs774522609 CA5382603	165	D>G		No	ClinGen ExAC gnomAD
rs768912156 CA5382602	165	D>H		No	ClinGen ExAC TOPMed gnomAD
CA375843725 rs768912156	165	D>N		No	ClinGen ExAC TOPMed gnomAD
CA375843731 rs767653030	166	P>A		No	ClinGen ExAC TOPMed gnomAD
rs750412519 CA5382606	166	P>L		No	ClinGen ExAC TOPMed gnomAD
rs750412519 CA375843733	166	P>R		No	ClinGen ExAC TOPMed gnomAD
CA5382605 rs767653030	166	P>S		No	ClinGen ExAC TOPMed gnomAD
CA5382609 rs149028639 COSM682399	168	T>I	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA5382608 rs766789882	168	T>P		No	ClinGen ExAC TOPMed
rs149028639 CA5382610	168	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA375843753 rs1347532006	170	T>A		No	ClinGen gnomAD
rs1474307197 CA375843755	170	T>I		No	ClinGen TOPMed gnomAD
rs1474307197 CA375843756	170	T>S		No	ClinGen TOPMed gnomAD
CA201964366 rs570880637	171	L>V		No	ClinGen Ensembl
rs956476823 CA201964367	172	L>F		No	ClinGen Ensembl
CA201964368 rs569349898	173	L>W		No	ClinGen Ensembl
rs369027744 CA5382613	175	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs777361137 CA5382614	176	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs953384484 CA201964369 COSM240061	179	V>I	prostate [Cosmic]	No	ClinGen cosmic curated TOPMed
CA375843836 rs1308332914	183	S>T		No	ClinGen gnomAD
rs550648722 CA5382616	184	F>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1437616214 CA375843848	185	I>V		No	ClinGen TOPMed
CA375843863 rs1223218501	187	K>E		No	ClinGen gnomAD
rs779828418 CA5382639	189	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1215902522 CA375843894	190	R>G		No	ClinGen TOPMed gnomAD
rs773282249 CA5382643	192	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1009996576 CA201964580	193	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs770948893 CA5382644	194	D>N		No	ClinGen ExAC TOPMed gnomAD
rs201529735 CA201964581	194	D>V		No	ClinGen Ensembl
CA201964582 rs369810568	196	Q>R		No	ClinGen ESP
CA201964583 rs1020524639	197	P>L		No	ClinGen TOPMed gnomAD
CA5382645 rs373574581	198	Y>H		No	ClinGen ESP ExAC gnomAD
rs748376784 CA5382646	199	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5382647 rs376110021	199	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA375843971 rs1318251865	202	T>N		No	ClinGen gnomAD
TCGA novel	203	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	206	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763859284 CA5382651	206	F>L		No	ClinGen ExAC gnomAD
CA201964585 rs878972374	207	V>L		No	ClinGen Ensembl
rs1245359529 CA375844023	210	M>T		No	ClinGen gnomAD
rs761476712 CA5382652	210	M>V		No	ClinGen ExAC TOPMed gnomAD
rs749865001 CA5382654	215	L>Q		No	ClinGen ExAC gnomAD
CA5382656 rs779953150	216	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5382658 rs566484717	216	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5382657 rs779953150	216	R>S		No	ClinGen ExAC TOPMed gnomAD
rs766343100 CA5382677	227	D>G		No	ClinGen ExAC gnomAD
rs545627459 CA5382679	228	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs146972123 CA5382680	229	P>S		No	ClinGen ESP ExAC gnomAD
CA201964782 rs765315769	230	L>V		No	ClinGen Ensembl
rs112752967 CA201964783	232	D>A		No	ClinGen Ensembl
CA5382681 rs752471400	232	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1268244062 CA375844182	233	R>G		No	ClinGen gnomAD
rs1201136690 CA375844202	235	T>I		No	ClinGen gnomAD
CA375844223 rs1168213937	238	M>I		No	ClinGen gnomAD
CA5382684 rs200523641	238	M>V		No	ClinGen 1000Genomes ExAC gnomAD
rs769965887 CA5382685	241	I>V		No	ClinGen ExAC gnomAD
rs1422651814 CA375844250	242	T>S		No	ClinGen gnomAD
CA375844259 rs1302524436	244	L>V		No	ClinGen gnomAD
CA5382686 COSM1627294 rs199736710	248	R>C	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA5382687 rs199736710	248	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs150247999 CA5382688	248	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150247999 CA375844285	248	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1352896368 CA375844291	249	A>V		No	ClinGen gnomAD
rs1325426069 CA375844292	250	A>T		No	ClinGen gnomAD
CA5382689 rs201509465	250	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5382691 rs771760007	251	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1344821665 CA375844297	251	V>I		No	ClinGen gnomAD
rs772817794 CA5382692	253	Y>C		No	ClinGen ExAC gnomAD
rs1211655343 CA375844342	257	L>F		No	ClinGen TOPMed gnomAD
CA5382695 rs200185256	261	C>F		No	ClinGen 1000Genomes ExAC gnomAD
CA5382694 rs149562129	261	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1162726747 CA375844384	263	H>Q		No	ClinGen gnomAD
rs1442586025 CA375844380	263	H>Y		No	ClinGen TOPMed gnomAD
rs1564467473 CA375844391	264	G>E		No	ClinGen Ensembl
rs758248691 CA5382699	272	F>L		No	ClinGen ExAC TOPMed gnomAD
rs370864343 CA5382700	273	Q>H		No	ClinGen ESP ExAC gnomAD
rs1380167583 CA375844466	275	I>T		No	ClinGen TOPMed gnomAD
rs1177590996 CA375844462	275	I>V		No	ClinGen gnomAD
CA375844471 rs1450850865	276	R>T		No	ClinGen gnomAD
CA375844476 rs1361610385	277	P>A		No	ClinGen TOPMed gnomAD
CA375844482 rs1441136859	278	L>F		No	ClinGen TOPMed
rs1441136859 CA375844481	278	L>V		No	ClinGen TOPMed
CA375844501 rs1360712444	280	I>M		No	ClinGen TOPMed gnomAD
rs1314814147 CA375844498	280	I>N		No	ClinGen gnomAD
rs750693721 CA5382701	281	N>S		No	ClinGen ExAC TOPMed gnomAD
rs763990736 CA201964790	284	L>F		No	ClinGen ExAC TOPMed gnomAD
rs763990736 CA5382725	284	L>V		No	ClinGen ExAC TOPMed gnomAD
rs751330128 CA5382726	286	V>A		No	ClinGen ExAC gnomAD
rs1298609218 CA375844553	287	V>I		No	ClinGen TOPMed
CA375844564 rs1421250949	288	A>V		No	ClinGen TOPMed
CA375844567 rs1163563570	289	N>H		No	ClinGen TOPMed
rs766606524 CA5382728	291	C>Y		No	ClinGen ExAC gnomAD
rs1415323563 CA375844600	293	V>G		No	ClinGen TOPMed
rs1263506048 CA375844596	293	V>L		No	ClinGen TOPMed gnomAD
CA375844598 rs1263506048	293	V>M		No	ClinGen TOPMed gnomAD
CA375844614 rs1249677389	295	R>K		No	ClinGen gnomAD
rs143312593 CA5382731	298	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142248903 CA5382730	298	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA375844637 rs1589026004	299	L>V		No	ClinGen Ensembl
CA5382732 rs748675418	300	S>F		No	ClinGen ExAC gnomAD
CA5382733 rs758846757	302	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1176769358 CA375844655	302	D>N		No	ClinGen gnomAD
rs778117247 CA5382734	303	D>A		No	ClinGen ExAC gnomAD
rs201097765 CA5382763	305	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200647626 CA5382765	306	I>M		No	ClinGen ExAC TOPMed gnomAD
CA5382766 rs772824232	313	E>A		No	ClinGen ExAC gnomAD
TCGA novel	314	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA201965384 rs113005988	314	G>R		No	ClinGen Ensembl
rs759810000 CA5382767	315	F>L		No	ClinGen ExAC gnomAD
CA5382768 rs568769204	316	P>R		No	ClinGen 1000Genomes ExAC gnomAD
CA5382769 rs752833976	319	E>A		No	ClinGen ExAC gnomAD
CA375845458 rs1490401319	325	E>D		No	ClinGen TOPMed
CA5382771 rs764627889	326	E>K		No	ClinGen ExAC TOPMed gnomAD
CA5382772 rs527956079	327	G>S		No	ClinGen 1000Genomes ExAC gnomAD
CA5382773 rs757660597	329	I>T		No	ClinGen ExAC TOPMed gnomAD
CA201965386 rs1033893400	333	T>S		No	ClinGen TOPMed
CA5382795 rs762446248	335	A>S		No	ClinGen ExAC gnomAD
CA375845544 rs1364313877	335	A>V		No	ClinGen TOPMed
CA5382797 rs201467313	337	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA5382798 rs201467313	337	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA375845559 rs1239672473	338	R>G		No	ClinGen TOPMed gnomAD
rs753565559 CA5382800	340	L>F		No	ClinGen ExAC gnomAD
TCGA novel	340	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375845583 rs1168711660	341	A>V		No	ClinGen TOPMed
CA375845585 rs1343680316	342	H>D		No	ClinGen gnomAD
rs267602345 CA201965540	343	R>*		No	ClinGen gnomAD
rs139708722 CA5382801	343	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778570304 CA375845596	344	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5382802 rs778570304	344	V>M		No	ClinGen ExAC TOPMed gnomAD
CA5382804 rs758419983	348	M>R		No	ClinGen ExAC TOPMed gnomAD
CA375845626 rs758419983	348	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1335953965 CA375845633	349	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA375845641 rs150951294	350	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA5382805 rs150951294	350	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs139540312 CA5382806	351	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1249277000 CA375845661	353	V>A		No	ClinGen gnomAD
CA375845664 rs1351853017	354	N>H		No	ClinGen gnomAD
rs943950216 CA201965541	355	E>K		No	ClinGen TOPMed gnomAD
rs770746128 CA5382807	356	V>A		No	ClinGen ExAC gnomAD
CA375845691 rs1345304859	358	N>H		No	ClinGen gnomAD
CA375845695 rs1266103587	358	N>K		No	ClinGen TOPMed gnomAD
CA201965542 rs1036832237	358	N>S		No	ClinGen TOPMed gnomAD
CA375845692 rs1036832237	358	N>T		No	ClinGen TOPMed gnomAD
rs776366252 CA5382808	361	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs749528409 CA5382809	362	L>P		No	ClinGen ExAC gnomAD
rs768858606 CA5382810	364	I>V		No	ClinGen ExAC gnomAD
CA5382811 rs774543705	366	T>A		No	ClinGen ExAC gnomAD
TCGA novel	367	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375845747 rs1197393952 COSM1717111	367	R>S	NS [Cosmic]	No	ClinGen cosmic curated gnomAD
rs761774690 CA5382812	368	R>K		No	ClinGen ExAC gnomAD
CA5382813 rs761774690	368	R>T		No	ClinGen ExAC gnomAD
rs995568946 COSM914422 CA201965543	370	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA375845762 rs995568946	370	D>Y		No	ClinGen TOPMed gnomAD
rs200485614 CA5382815	371	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1331964005 CA375846133	372	E>G		No	ClinGen gnomAD
rs149656462 CA5382911	372	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752476585 CA5382912	374	P>L		No	ClinGen ExAC
rs762196336 CA375846151	375	P>H		No	ClinGen ExAC TOPMed gnomAD
rs762196336 CA5382913	375	P>L		No	ClinGen ExAC TOPMed gnomAD
rs762196336 CA5382914	375	P>R		No	ClinGen ExAC TOPMed gnomAD
rs557111331 CA375846150	375	P>S		No	ClinGen Ensembl
rs557111331 CA201965755	375	P>T		No	ClinGen Ensembl
rs750504358 CA5382915	376	F>L		No	ClinGen ExAC gnomAD
CA375846165 rs1336984668	377	I>M		No	ClinGen gnomAD
CA375846169 rs1348132730	378	P>R		No	ClinGen TOPMed gnomAD
CA5382916 rs756244947	378	P>S		No	ClinGen ExAC gnomAD
rs755409651 CA5382919	379	E>G		No	ClinGen ExAC gnomAD
CA5382918 rs754380525	379	E>K		No	ClinGen ExAC TOPMed gnomAD
CA5382920 rs376461617	380	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA201965756 rs376461617	380	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA375846185 rs1299344799	381	V>A		No	ClinGen TOPMed gnomAD
CA5382923 rs757562227	384	R>C		No	ClinGen ExAC TOPMed gnomAD
CA375846200 rs757562227	384	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5382925 rs147014834	384	R>H		No	ClinGen ESP ExAC gnomAD
rs147014834 CA5382924	384	R>L		No	ClinGen ESP ExAC gnomAD
rs1482089750 CA375846203	385	R>G		No	ClinGen gnomAD
rs1564469916 CA375846215	386	K>N		No	ClinGen Ensembl
CA5382926 rs114068451	388	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375846234 rs1564469923	389	E>A		No	ClinGen Ensembl
rs1026274781 CA201965757	389	E>K		No	ClinGen TOPMed
rs1252738430 CA375846244	390	T>I		No	ClinGen gnomAD
rs1172475290 CA375846258	392	E>D		No	ClinGen TOPMed
rs746245285 CA5382927	392	E>G		No	ClinGen ExAC gnomAD
CA5382928 rs201448915	393	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs775487426 CA5382929	394	R>G		No	ClinGen ExAC gnomAD
rs1178095990 CA375846266	394	R>K		No	ClinGen TOPMed gnomAD
CA201965758 rs980275761	397	R>G		No	ClinGen Ensembl
CA375846288 rs1281915652	397	R>K		No	ClinGen gnomAD
CA5382957 rs759590768	399	R>Q		No	ClinGen ExAC gnomAD
rs979543768 CA201965828	401	L>P		No	ClinGen Ensembl
CA201965830 rs546188373	402	E>D		No	ClinGen 1000Genomes TOPMed gnomAD
rs765252138 CA5382958	402	E>K		No	ClinGen ExAC gnomAD
CA375846343 rs1311624327	404	E>K		No	ClinGen TOPMed
rs374983396 CA5382959	405	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758834623 CA5382960	407	D>N		No	ClinGen ExAC gnomAD
rs1376492849 CA375846383	409	Y>C		No	ClinGen TOPMed
TCGA novel	411	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1448773295 CA375846396	411	L>W		No	ClinGen gnomAD
CA5382963 rs149079982	412	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5382962 rs149079982	412	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5382964 rs780674128	413	L>I		No	ClinGen ExAC
rs1374751614 CA375846414	414	Q>P		No	ClinGen gnomAD
CA375846420 rs1399235536	415	K>E		No	ClinGen TOPMed
CA201965951 rs963326403	415	K>R		No	ClinGen Ensembl
CA375846444 rs1349397169	416	Y>C		No	ClinGen TOPMed
rs750109156 CA5382985	417	W>G		No	ClinGen ExAC gnomAD
rs755772783 CA5382986	420	M>V		No	ClinGen ExAC gnomAD
rs1279606532 CA375846480	421	N>D		No	ClinGen TOPMed
CA5382987 rs779771589	421	N>I		No	ClinGen ExAC TOPMed gnomAD
CA201965952 rs11541698 COSM378076	422	L>S	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs376039038 CA201965953	423	S>C		No	ClinGen ExAC gnomAD
CA5382989 rs376039038	423	S>F		No	ClinGen ExAC gnomAD
rs748805111 CA5382988	423	S>P		No	ClinGen ExAC gnomAD
CA375846515 rs1286627256	426	H>R		No	ClinGen gnomAD
rs371563844 CA5382990	427	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1228706816 CA375846527	428	K>E		No	ClinGen gnomAD
CA5382991 rs748069913	429	I>V		No	ClinGen ExAC gnomAD
rs771794876 CA201965954	430	P>A		No	ClinGen ExAC TOPMed gnomAD
CA5382992 rs771794876	430	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	431	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs958554091 CA201965955	433	W>*		No	ClinGen Ensembl
rs1256204424 CA375846567	434	E>K		No	ClinGen gnomAD
CA201965957 rs41294958	437	N>K		No	ClinGen Ensembl
rs992648965 CA201965956	437	N>S		No	ClinGen TOPMed
CA5382994 rs376157521	439	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA375846606 rs376157521	439	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1159981835 CA375846619	441	Y>C		No	ClinGen TOPMed
rs1179410082 CA375846624	442	I>V		No	ClinGen gnomAD
CA375846643 rs1473578919	444	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs769988949 CA5382995	445	A>G		No	ClinGen ExAC TOPMed gnomAD
CA5382996 rs775610791	446	I>V		No	ClinGen ExAC TOPMed gnomAD
CA5382997 rs143157410	447	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1365965772 CA375846657	447	M>L		No	ClinGen gnomAD
CA375846658 rs1238968824	447	M>T		No	ClinGen TOPMed
rs115240670 CA5383016	449	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1185732782 CA375846705	452	E>K		No	ClinGen TOPMed
rs1486057521 CA375846759	458	E>D		No	ClinGen TOPMed
rs1589031666 CA375846753	458	E>K		No	ClinGen Ensembl
rs12357971 CA201966286	459	L>V		No	ClinGen Ensembl
CA375846778 rs1373081314	462	A>P		No	ClinGen gnomAD
rs774435852 CA5383017	462	A>V		No	ClinGen ExAC gnomAD
CA375846786 rs1287765890	463	A>V		No	ClinGen TOPMed
rs41289285 CA5383018	465	E>D		No	ClinGen ExAC TOPMed gnomAD
rs772704197 CA5383019	467	D>G		No	ClinGen ExAC gnomAD
CA201966287 rs893945160	468	S>G		No	ClinGen Ensembl
CA5383022 rs766801110	469	V>A		No	ClinGen ExAC gnomAD
CA5383021 rs761100651	469	V>L		No	ClinGen ExAC TOPMed gnomAD
CA375846839 rs1564471399	471	E>D		No	ClinGen Ensembl
CA5383023 rs753464423	471	E>G		No	ClinGen ExAC TOPMed gnomAD
CA375846841 rs1342815740	472	S>G		No	ClinGen TOPMed
CA5383024 rs759161851	473	E>K		No	ClinGen ExAC TOPMed gnomAD
rs752236545 CA5383026	475	E>K		No	ClinGen ExAC TOPMed gnomAD
rs758395871 CA5383027	476	E>D		No	ClinGen ExAC gnomAD
rs529198942 CA5383028	477	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA201966288 rs570553256	478	L>M		No	ClinGen Ensembl
CA5383029 rs374791851	481	R>Q		No	ClinGen ESP ExAC gnomAD
rs757062874 CA375846911	482	Q>L		No	ClinGen ExAC gnomAD
CA5383030 rs757062874	482	Q>P		No	ClinGen ExAC gnomAD
CA5383031 rs780995750	483	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA375846924 rs1396466253	484	A>E		No	ClinGen gnomAD
CA375846922 rs1396466253	484	A>V		No	ClinGen gnomAD
TCGA novel	485	K>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375846931 rs1564471414	485	K>N		No	ClinGen Ensembl
rs768912709 CA5383033	486	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1459460874 CA375846939	486	Q>H		No	ClinGen TOPMed
CA375846937 rs1163934524	486	Q>L		No	ClinGen TOPMed
CA375846949 rs369802399	488	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA5383034 COSM683448 rs369802399	488	R>Q	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	489	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1161079353 CA375846974	491	K>N		No	ClinGen TOPMed gnomAD
rs61731089 CA5383036	492	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375846978 rs1196944887	492	K>R		No	ClinGen TOPMed
CA5383038 rs747480398	495	I>S		No	ClinGen ExAC gnomAD
rs1022854247 CA201966289	497	E>K		No	ClinGen TOPMed
CA201966290 rs902694275	499	K>E		No	ClinGen TOPMed
rs776996047 CA5383040	499	K>R		No	ClinGen ExAC gnomAD
rs1207248412 CA375847031	500	E>G		No	ClinGen gnomAD
rs764936049 CA375847049	502	N>K		No	ClinGen ExAC gnomAD
rs759168766 CA5383041	502	N>S		No	ClinGen ExAC gnomAD
CA5383043 rs140995147	506	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375847070 rs1564471448	506	P>S		No	ClinGen Ensembl
CA201966292 rs1035253762	508	M>I		No	ClinGen TOPMed
rs1411783763 CA375847084	508	M>L		No	ClinGen gnomAD
CA5383044 rs762424442	509	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs762424442 CA5383045	509	P>R		No	ClinGen ExAC TOPMed gnomAD
CA201966293 COSM1492220 rs866138946	509	P>S	kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1420327490 CA375847093	510	R>G		No	ClinGen gnomAD
COSM914495 CA5383047 rs372753265	510	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA5383048 rs767277210	513	K>E		No	ClinGen ExAC TOPMed gnomAD
rs773841237 CA5383064	515	V>F		No	ClinGen ExAC TOPMed gnomAD
CA5383065 rs370193949	516	Q>E		No	ClinGen ESP ExAC gnomAD
rs138824875 CA5383066	516	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA5383068 rs373137497	517	R>G		No	ClinGen ESP ExAC gnomAD
CA5383067 rs373137497	517	R>W		No	ClinGen ESP ExAC gnomAD
rs1348226044 CA375847176	521	E>D		No	ClinGen gnomAD
rs146388492 CA5383070	521	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5383071 rs558767970	522	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	524	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5383073 rs747080192	525	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs3207775 VAR_068801 CA5383074	525	R>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1217611805 CA375847238	530	D>E		No	ClinGen gnomAD
rs781707444 CA5383075	531	M>V		No	ClinGen ExAC gnomAD
rs770223543 CA5383077	532	D>G		No	ClinGen ExAC gnomAD
CA5383076 rs751203043	532	D>N		No	ClinGen ExAC TOPMed gnomAD
rs748949217 CA5383079	533	D>N		No	ClinGen ExAC gnomAD
CA375847254 rs748949217	533	D>Y		No	ClinGen ExAC gnomAD
rs773896046 CA5383081	535	D>G		No	ClinGen ExAC gnomAD
CA5383080 rs371086898	535	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1472835911 CA375847278	536	D>G		No	ClinGen gnomAD
rs1214764312 COSM275404 CA375847274	536	D>N	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1195383134 CA375847298	537	A>G		No	ClinGen gnomAD
rs749626115 CA5383102	537	A>T		No	ClinGen ExAC TOPMed gnomAD
rs201832619 CA5383103	539	Y>N		No	ClinGen 1000Genomes ExAC
rs367860596 CA5383105	540	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA5383107 rs772539965	542	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA201966686 rs1039097592	543	A>S		No	ClinGen TOPMed
CA5383108 rs760724657	543	A>V		No	ClinGen ExAC
CA375847341 rs1564472468	544	R>K		No	ClinGen Ensembl
rs1421205106 CA375847356	546	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs563408260 CA5383112	547	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs144343889 CA5383111	547	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs751859341 CA5383113	548	S>N		No	ClinGen ExAC TOPMed
CA5383114 rs761872712	550	T>I		No	ClinGen ExAC
CA375847386 rs1287047704	552	K>Q		No	ClinGen TOPMed
TCGA novel	554	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5383117 rs756688779 COSM683428	555	R>Q	lung Variant assessed as Somatic; 9.24e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA5383115 rs376755049	555	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1363659020 CA375847420	557	D>N		No	ClinGen gnomAD
CA5383119 rs754296503	558	S>A		No	ClinGen ExAC gnomAD
CA375847431 rs755370801	558	S>C		No	ClinGen ExAC TOPMed gnomAD
rs755370801 CA5383120	558	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs779184414 CA201966687	559	A>G		No	ClinGen ExAC gnomAD
rs779184414 CA5383121	559	A>V		No	ClinGen ExAC gnomAD
CA5383124 rs200136771	560	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs529285024 CA5383122	560	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs529285024 CA5383123	560	P>T		No	ClinGen 1000Genomes ExAC gnomAD
CA5383126 rs41294962	561	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs373695235 CA5383127	561	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA375847441 rs373695235	561	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5383129 rs769713419	562	S>C		No	ClinGen ExAC TOPMed
CA375847447 rs769713419	562	S>F		No	ClinGen ExAC TOPMed
CA5383131 rs762149811	563	S>F		No	ClinGen ExAC gnomAD
CA5383130 rs147344007	563	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1362599497 CA375847456	564	V>A		No	ClinGen gnomAD
rs1471586103 CA375847452	564	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA375847460 rs1163706560	565	A>S		No	ClinGen TOPMed gnomAD
CA375847458 rs1163706560	565	A>T		No	ClinGen TOPMed gnomAD
rs773394843 CA5383134	566	R>L		No	ClinGen ExAC TOPMed gnomAD
CA5383133 rs773394843	566	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5383132 rs377125996	566	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1253892 rs201965992 CA5383136	567	S>N	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5383135 rs766408785	567	S>R		No	ClinGen ExAC gnomAD
rs1319031073 CA375847479	569	S>G		No	ClinGen gnomAD
CA5383138 rs570626417 CA375847484	569	S>R		No	ClinGen 1000Genomes ExAC gnomAD
CA5383140 rs372868479	571	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA201966689 rs1004771925	572	R>P		No	ClinGen TOPMed gnomAD
CA201966688 rs1004771925	572	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1335734744 CA375847506	573	T>I		No	ClinGen TOPMed gnomAD
CA375847505 rs1335734744	573	T>S		No	ClinGen TOPMed gnomAD
CA5383141 rs777266905	574	P>S		No	ClinGen ExAC gnomAD
CA5383142 rs746622838	575	R>C		No	ClinGen ExAC TOPMed gnomAD
rs369165113 CA5383143	575	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA201966690 rs746622838	575	R>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	576	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745809592 CA5383145	577	V>D		No	ClinGen ExAC
rs539228128 CA5383144	577	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA375847538 rs1440145670	579	G>V		No	ClinGen gnomAD
rs769838858 CA5383146	581	R>K		No	ClinGen ExAC TOPMed gnomAD
rs1390916999 CA375847550	581	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs769838858 CA375847547	581	R>T		No	ClinGen ExAC TOPMed gnomAD
CA5383147 rs775419105	582	D>V		No	ClinGen ExAC TOPMed gnomAD
CA5383148 rs549916758	583	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs142553502 CA201966692	584	K>R		No	ClinGen 1000Genomes
rs145057181 CA5383177	585	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374028434 CA5383179	586	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA5383178 rs769861717	586	V>M		No	ClinGen ExAC TOPMed gnomAD
CA375847620 rs1439028035	590	K>R		No	ClinGen gnomAD
CA5383180 rs763449480	591	T>A		No	ClinGen ExAC TOPMed gnomAD
rs147640846 CA5383182	592	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5383181 rs762370250	592	M>T		No	ClinGen ExAC TOPMed gnomAD
CA201966826 rs914633884	592	M>V		No	ClinGen Ensembl
CA5383185 rs750050044	593	M>I		No	ClinGen ExAC TOPMed gnomAD
CA5383183 rs761622093	593	M>R		No	ClinGen ExAC gnomAD
CA5383184 rs761622093	593	M>T		No	ClinGen ExAC gnomAD
CA201966827 rs571293169	597	Q>H		No	ClinGen gnomAD
rs1373100557 CA375847667	597	Q>R		No	ClinGen gnomAD
CA375847683 rs1294300773	599	K>M		No	ClinGen TOPMed gnomAD
TCGA novel	600	M>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755719339 CA375847703	602	R>G		No	ClinGen ExAC gnomAD
CA375847705 rs779553274	602	R>P		No	ClinGen ExAC TOPMed gnomAD
CA5383187 rs779553274	602	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs755719339 CA5383186	602	R>W		No	ClinGen ExAC gnomAD
CA201966828 rs551089723	603	L>M		No	ClinGen 1000Genomes
rs753735918 CA5383188	604	G>A		No	ClinGen ExAC gnomAD
rs1333091683 CA375847735	607	G>R		No	ClinGen TOPMed gnomAD
CA375847744 rs1254105375	608	E>A		No	ClinGen gnomAD
TCGA novel	608	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1184843172 CA375847751	609	A>V		No	ClinGen TOPMed gnomAD
CA5383192 rs771189740	611	R>K		No	ClinGen ExAC gnomAD
rs1256319371 CA375847769	612	H>Y		No	ClinGen TOPMed
TCGA novel	613	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs567539161 CA5383194	613	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1460664801 CA375847783	614	F>Y		No	ClinGen gnomAD
CA375847789 rs1165462719	615	D>H		No	ClinGen TOPMed gnomAD
CA201966829 rs1008462296	616	M>R		No	ClinGen Ensembl
CA5383195 rs769766576	616	M>V		No	ClinGen ExAC TOPMed gnomAD
CA201966830 rs1037269327	617	K>T		No	ClinGen Ensembl
rs775578452 CA5383196	619	K>E		No	ClinGen ExAC gnomAD
CA5383197 rs763423456	621	L>V		No	ClinGen ExAC gnomAD
rs769198802 CA5383198	622	L>V		No	ClinGen ExAC gnomAD
rs536411468 CA5383199	625	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA5383201 rs767955555	627	K>R		No	ClinGen ExAC gnomAD
rs773007238 CA5383202	628	A>T		No	ClinGen ExAC gnomAD
rs1274263941 CA375847883	629	G>D		No	ClinGen gnomAD
CA201966833 rs1027447889	629	G>S		No	ClinGen Ensembl
CA375847893 rs1344741811	631	K>E		No	ClinGen TOPMed gnomAD
TCGA novel	631	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375847904 rs1402903877	632	D>G		No	ClinGen gnomAD
CA5383203 rs759087426	633	R>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	633	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1564472940 CA375847916	634	R>K		No	ClinGen Ensembl
CA201966835 rs11541699	635	R>Q		No	ClinGen Ensembl

No associated diseases with Q9BZE4

2 regional properties for Q9BZE4

Type	Name	Position	InterPro Accession
binding_site	PPM-type phosphatase, divalent cation binding	52 - 60	IPR000222
domain	PPM-type phosphatase-like domain	13 - 298	IPR001932

Functions

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

8 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
nuclear membrane	Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space.
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.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.

4 GO annotations of molecular function

Name	Definition
GTP binding	Binding to GTP, guanosine triphosphate.
GTPase activity	Catalysis of the reaction: GTP + H2O = GDP + H+ + phosphate.
preribosome binding	Binding to a preribosome.
RNA binding	Binding to an RNA molecule or a portion thereof.

11 GO annotations of biological process

Name	Definition
maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	Any process involved in the maturation of a precursor Large SubUnit (LSU) ribosomal RNA (rRNA) molecule into a mature LSU-rRNA molecule from the pre-rRNA molecule originally produced as a tricistronic rRNA transcript that contains the Small Subunit (SSU) rRNA, 5.8S rRNA, and Large Subunit (LSU) in that order from 5' to 3' along the primary transcript.
negative regulation of cell migration	Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration.
negative regulation of cell population proliferation	Any process that stops, prevents or reduces the rate or extent of cell proliferation.
negative regulation of cell-cell adhesion	Any process that stops, prevents or reduces the rate or extent of cell adhesion to another cell.
negative regulation of collagen binding	Any process that stops, prevents, or reduces the frequency, rate or extent of collagen binding.
negative regulation of DNA replication	Any process that stops, prevents, or reduces the frequency, rate or extent of DNA replication.
negative regulation of protein ubiquitination	Any process that stops, prevents, or reduces the frequency, rate or extent of the addition of ubiquitin groups to a protein.
osteoblast differentiation	The process whereby a relatively unspecialized cell acquires the specialized features of an osteoblast, a mesodermal or neural crest cell that gives rise to bone.
protein stabilization	Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation.
regulation of cyclin-dependent protein serine/threonine kinase activity	Any process that modulates the frequency, rate or extent of cyclin-dependent protein serine/threonine kinase activity.
ribosomal large subunit biogenesis	A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a large ribosomal subunit; includes transport to the sites of protein synthesis.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q02892	NOG1	Nucleolar GTP-binding protein 1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q9V411	Non1	Nucleolar GTP-binding protein 1	Drosophila melanogaster (Fruit fly)	PR
Q99ME9	Gtpbp4	GTP-binding protein 4	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MAHYNFKKIT	VVPSAKDFID	LTLSKTQRKT	PTVIHKHYQI	HRIRHFYMRK	VKFTQQNYHD
70	80	90	100	110	120
RLSQILTDFP	KLDDIHPFYA	DLMNILYDKD	HYKLALGQIN	IAKNLVDNVA	KDYVRLMKYG
130	140	150	160	170	180
DSLYRCKQLK	RAALGRMCTV	IKRQKQSLEY	LEQVRQHLSR	LPTIDPNTRT	LLLCGYPNVG
190	200	210	220	230	240
KSSFINKVTR	ADVDVQPYAF	TTKSLFVGHM	DYKYLRWQVV	DTPGILDHPL	EDRNTIEMQA
250	260	270	280	290	300
ITALAHLRAA	VLYVMDLSEQ	CGHGLREQLE	LFQNIRPLFI	NKPLIVVANK	CDVKRIAELS
310	320	330	340	350	360
EDDQKIFTDL	QSEGFPVIET	STLTEEGVIK	VKTEACDRLL	AHRVETKMKG	NKVNEVLNRL
370	380	390	400	410	420
HLAIPTRRDD	KERPPFIPEG	VVARRKRMET	EESRKKRERD	LELEMGDDYI	LDLQKYWDLM
430	440	450	460	470	480
NLSEKHDKIP	EIWEGHNIAD	YIDPAIMKKL	EELEKEEELR	TAAGEYDSVS	ESEDEEMLEI
490	500	510	520	530	540
RQLAKQIREK	KKLKILESKE	KNTQGPRMPR	TAKKVQRTVL	EKEMRSLGVD	MDDKDDAHYA
550	560	570	580	590	600
VQARRSRSIT	RKRKREDSAP	PSSVARSGSC	SRTPRDVSGL	RDVKMVKKAK	TMMKNAQKKM
610	620	630
NRLGKKGEAD	RHVFDMKPKH	LLSGKRKAGK	KDRR