AiPD: Autoinhibited Protein Database

Q969R2

Gene name	OSBP2 (KIAA1664, ORP4, OSBPL4)
Protein name	Oxysterol-binding protein 2
Names	Oxysterol-binding protein-related protein 4, ORP-4, OSBP-related protein 4
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23762
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

72-152 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

72-152 (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

1 structures for Q969R2

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q969R2-F1	Predicted				AlphaFoldDB

750 variants for Q969R2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA411535619 rs1602132275	4	A>G		No	ClinGen Ensembl
CA10185550 rs752295297	4	A>T		No	ClinGen ExAC TOPMed gnomAD
CA10185551 rs757581742	6	A>V		No	ClinGen ExAC gnomAD
rs767794548 CA10185552	7	P>L		No	ClinGen ExAC
rs756583162 CA411535646	8	S>R		No	ClinGen ExAC TOPMed gnomAD
rs780587453 CA10185556	9	R>G		No	ClinGen ExAC gnomAD
CA323611454 rs755081301	9	R>P		No	ClinGen ExAC TOPMed gnomAD
CA10185557 rs755081301	9	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10185558 rs779127892	11	G>D		No	ClinGen ExAC gnomAD
rs1416293259 CA411535679	12	G>V		No	ClinGen gnomAD
rs1354382057 CA411535706	15	G>C		No	ClinGen gnomAD
CA411535713 rs1372221910	16	R>G		No	ClinGen TOPMed
rs1308802853 CA411535734	18	R>C		No	ClinGen gnomAD
CA411535741 rs1380678824	19	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1238239652 CA411535769	21	S>W		No	ClinGen gnomAD
rs980055036 CA323611456	28	P>A		No	ClinGen TOPMed gnomAD
CA411535838 rs1179336966	28	P>L		No	ClinGen gnomAD
TCGA novel	28	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411535830 rs980055036	28	P>T		No	ClinGen TOPMed gnomAD
CA411535895 rs1276884311	33	H>Y		No	ClinGen TOPMed
CA411535910 rs1406159145	34	T>M		No	ClinGen TOPMed gnomAD
rs1177392318 CA411535921	35	A>V		No	ClinGen gnomAD
rs1436074330 CA411535936	37	P>S		No	ClinGen gnomAD
CA411535950 rs1021784653	38	G>D		No	ClinGen gnomAD
CA323611458 rs1021784653	38	G>V		No	ClinGen gnomAD
rs889988705 CA323611459	41	A>S		No	ClinGen gnomAD
CA10185565 rs776774093	42	S>F		No	ClinGen ExAC gnomAD
rs1007121146 CA323611460	42	S>P		No	ClinGen Ensembl
rs759016782 CA10185566	46	S>F		No	ClinGen ExAC gnomAD
CA10185567 rs764666088	47	G>A		No	ClinGen ExAC TOPMed gnomAD
CA10185568 rs764666088	47	G>E		No	ClinGen ExAC TOPMed gnomAD
rs762545204 CA10185569	48	P>A		No	ClinGen ExAC gnomAD
CA411536076 rs1410993640	49	E>A		No	ClinGen TOPMed
rs1309321180 CA411536137	52	P>L		No	ClinGen TOPMed
CA10185572 rs750765728	52	P>S		No	ClinGen ExAC gnomAD
rs756529783 CA10185573	53	Q>R		No	ClinGen ExAC gnomAD
CA411536175 rs1407781011	54	P>L		No	ClinGen TOPMed
CA411536204 rs1480491592	56	P>L		No	ClinGen gnomAD
CA411536223 rs1486015284	57	V>G		No	ClinGen TOPMed gnomAD
rs1172843457 CA411536211	57	V>M		No	ClinGen TOPMed
rs1453055693 CA411536238	58	P>L		No	ClinGen gnomAD
rs755031077 CA411536278	60	P>L		No	ClinGen ExAC TOPMed gnomAD
rs755031077 CA10185576	60	P>R		No	ClinGen ExAC TOPMed gnomAD
CA411536269 rs1191210779	60	P>S		No	ClinGen gnomAD
rs950477094 CA323611463	61	E>D		No	ClinGen TOPMed gnomAD
CA10185580 rs778196099	62	R>P		No	ClinGen ExAC gnomAD
rs554020856 CA10185579	62	R>W		No	ClinGen 1000Genomes ExAC gnomAD
rs770851785 CA10185582	63	G>R		No	ClinGen ExAC TOPMed gnomAD
rs781215637 CA10185583	63	G>V		No	ClinGen ExAC gnomAD
rs1056888792 CA323611465	64	P>L		No	ClinGen TOPMed gnomAD
CA411536345 rs745812869	64	P>S		No	ClinGen ExAC gnomAD
CA10185584 rs745812869	64	P>T		No	ClinGen ExAC gnomAD
CA10185585 rs769307041	66	S>L		No	ClinGen ExAC gnomAD
CA411536383 rs1602132722	67	E>K		No	ClinGen Ensembl
CA411536407 rs1307083633	68	Q>*		No	ClinGen gnomAD
CA411536420 rs1194930447	69	V>M		No	ClinGen gnomAD
CA411536434 rs1321793685	70	S>P		No	ClinGen TOPMed
rs1193541011 CA411536464	73	V>F		No	ClinGen TOPMed gnomAD
CA10185588 rs762573249	77	V>M		No	ClinGen ExAC gnomAD
rs1427500572 CA411536519	78	P>L		No	ClinGen TOPMed gnomAD
rs201695346 CA323611468	78	P>S		No	ClinGen ESP TOPMed gnomAD
CA411536530 rs1165389140	79	R>S		No	ClinGen gnomAD
CA10185590 rs13053290	81	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1325100880 CA411536557	82	P>S		No	ClinGen gnomAD
rs760964281 CA10185591	83	V>M		No	ClinGen ExAC gnomAD
rs1334694251 CA411536581	84	S>F		No	ClinGen TOPMed
rs375188093 CA10185592	85	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA10185595 rs765817634	87	T>M		No	ClinGen ExAC gnomAD
rs759996904 CA10185594	87	T>S		No	ClinGen ExAC gnomAD
CA411536632 rs1295560511	89	E>G		No	ClinGen TOPMed gnomAD
rs1295560511 CA411536633	89	E>V		No	ClinGen TOPMed gnomAD
CA10185596 rs200580022	90	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1269355684 CA411536671	92	P>Q		No	ClinGen gnomAD
CA411536689 rs1449190612	94	A>S		No	ClinGen gnomAD
rs1217334257 CA411536707	96	Q>*		No	ClinGen gnomAD
CA323611470 rs928577184	97	P>L		No	ClinGen TOPMed gnomAD
rs891815610 CA323611472	102	Q>R		No	ClinGen Ensembl
CA10185599 rs751841513	103	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1602132924 CA411536793	104	S>A		No	ClinGen Ensembl
rs1419807447 CA411536817	106	P>S		No	ClinGen gnomAD
rs961401943 CA323611473	107	G>W		No	ClinGen TOPMed
CA411536834 rs1602132938	108	S>A		No	ClinGen Ensembl
CA411536858 rs1209735239	110	S>P		No	ClinGen TOPMed
rs562829562 CA10185600	111	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA10185601 rs781162624	112	S>L		No	ClinGen ExAC TOPMed gnomAD
CA323611475 rs1043177990	112	S>P		No	ClinGen Ensembl
CA323611476 rs1027371508	113	G>V		No	ClinGen TOPMed gnomAD
rs576508023 CA10185604	115	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA411536935 rs1415677542	118	P>R		No	ClinGen gnomAD
CA10185606 rs143270711	121	K>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1335725852 CA411536970	121	K>N		No	ClinGen TOPMed
rs1366619516 CA411536980	122	A>V		No	ClinGen gnomAD
rs761479332 CA10185610	123	A>G		No	ClinGen ExAC gnomAD
CA10185609 rs201478395	123	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761479332 CA411536989	123	A>V		No	ClinGen ExAC gnomAD
CA411536999 rs1210926528	124	S>L		No	ClinGen gnomAD
rs776834377 CA10185612	124	S>P		No	ClinGen ExAC gnomAD
rs371148157 CA411537011	125	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs866985772 CA323611477	126	P>S		No	ClinGen Ensembl
rs202038852 CA10185615	127	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1233238072 CA411537026	127	L>V		No	ClinGen gnomAD
rs763066418 CA10185617	129	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA411537046 rs1407400052	129	R>W		No	ClinGen gnomAD
CA411537064 rs1602133117	131	V>G		No	ClinGen Ensembl
rs764288874 CA10185618	132	G>E		No	ClinGen ExAC gnomAD
rs1216054324 CA411537069	132	G>R		No	ClinGen gnomAD
CA10185619 rs751790190	133	S>R		No	ClinGen ExAC gnomAD
rs1330057500 CA411537093	134	A>E		No	ClinGen gnomAD
CA10185620 rs757521218	134	A>T		No	ClinGen ExAC TOPMed gnomAD
CA411537096 rs1330057500	134	A>V		No	ClinGen gnomAD
CA10185621 rs373401186	135	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA411537103 rs373401186	135	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000971345 rs79856312 CA10185623	137	L>F		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1349166064 CA411537135	138	R>I		No	ClinGen gnomAD
CA411537147 rs1246511650	139	P>R		No	ClinGen gnomAD
TCGA novel	140	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1189105069 CA411537160	140	E>Q		No	ClinGen gnomAD
CA10185626 rs200118898	143	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs984481425 CA323611479	144	L>P		No	ClinGen Ensembl
CA411537207 rs1454439013	145	P>S		No	ClinGen gnomAD
CA10185627 rs778429697	149	P>A		No	ClinGen ExAC gnomAD
rs747699976 CA10185628	150	L>V		No	ClinGen ExAC TOPMed gnomAD
CA10185629 rs150763805	151	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10185630 rs772979731	152	L>F		No	ClinGen ExAC gnomAD
CA411537252 rs1232258134	152	L>P		No	ClinGen gnomAD
CA411537257 rs1454616464	153	L>R		No	ClinGen gnomAD
CA10185631 rs746148164	154	R>L		No	ClinGen ExAC TOPMed gnomAD
rs746148164 CA411537261	154	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA411537274 rs1363739080	156	G>V		No	ClinGen TOPMed
rs1393346687 CA411537279	157	Q>L		No	ClinGen TOPMed gnomAD
CA411537280 rs1393346687	157	Q>P		No	ClinGen TOPMed gnomAD
CA323611480 rs969830348	158	A>G		No	ClinGen TOPMed gnomAD
TCGA novel	158	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411537287 rs969830348	158	A>V		No	ClinGen TOPMed gnomAD
rs1168690535 CA411537292	159	K>R		No	ClinGen gnomAD
CA411537303 rs1318838488	161	P>S		No	ClinGen gnomAD
CA411537308 rs1350383245	162	L>I		No	ClinGen TOPMed
CA10185632 rs770205328	162	L>P		No	ClinGen ExAC gnomAD
rs1350383245 CA411537309	162	L>V		No	ClinGen TOPMed
CA10185634 rs763583406	163	G>A		No	ClinGen ExAC gnomAD
CA323611482 rs944293663	165	P>T		No	ClinGen TOPMed
CA10185635 rs201965909	166	M>V		No	ClinGen ExAC TOPMed gnomAD
rs774548986 CA10185636	167	S>*		No	ClinGen ExAC gnomAD
rs769957599 CA323611483	170	G>C		No	ClinGen Ensembl
CA10185639 rs750663925	173	S>C		No	ClinGen ExAC gnomAD
rs979897130 CA323611484	175	A>G		No	ClinGen TOPMed gnomAD
rs755808897 CA10185640	175	A>S		No	ClinGen ExAC gnomAD
CA411537391 rs1468914327	176	P>Q		No	ClinGen gnomAD
rs754881486 CA10185643	177	L>R		No	ClinGen ExAC gnomAD
CA411537401 rs201100084	178	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10185644 rs201100084	178	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1375014357 CA411537408	179	L>F		No	ClinGen gnomAD
CA411537410 rs1372084499	180	L>M		No	ClinGen gnomAD
CA411537433 rs1205343226	183	D>E		No	ClinGen TOPMed
rs757904808 CA10185646	185	F>L		No	ClinGen ExAC TOPMed gnomAD
rs959966548 CA323611487	186	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs888431237 CA411537459	187	G>D		No	ClinGen TOPMed gnomAD
rs888431237 CA323611488	187	G>V		No	ClinGen TOPMed gnomAD
rs989164087 CA411537468	188	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA323611489 rs989164087	188	W>C		No	ClinGen TOPMed gnomAD
rs777229880 CA10185647	190	L>F		No	ClinGen ExAC TOPMed gnomAD
CA411537483 rs1295605508	191	K>T		No	ClinGen gnomAD
rs770012050 CA10185649	192	W>*		No	ClinGen ExAC gnomAD
CA411537490 rs1602133475	192	W>G		No	ClinGen Ensembl
CA323611490 rs913205278	193	T>A		No	ClinGen TOPMed gnomAD
CA10185650 rs375879888	194	N>K		No	ClinGen ESP ExAC gnomAD
CA411537505 rs1364968575	194	N>S		No	ClinGen TOPMed
CA411537512 rs1308712928	195	Y>C		No	ClinGen TOPMed
rs1235106476 CA411537531	198	G>S		No	ClinGen gnomAD
rs749718645 CA10185651	198	G>V		No	ClinGen ExAC gnomAD
rs769273064 CA10185652	200	Q>*		No	ClinGen ExAC gnomAD
rs368259138 CA10185653	201	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs761918437 CA10185654	202	R>C		No	ClinGen ExAC gnomAD
rs767650694 CA10185655	202	R>L		No	ClinGen ExAC gnomAD
rs760991362 CA10185657	203	W>C		No	ClinGen ExAC gnomAD
rs766552778 CA10185658	204	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs190861655 CA323611491	204	F>L		No	ClinGen 1000Genomes
rs754830122 CA10185660 CA411537573	205	V>L		No	ClinGen ExAC gnomAD
CA10185661 rs765088545	206	L>R		No	ClinGen ExAC gnomAD
CA411537586 rs1454701318	207	G>V		No	ClinGen TOPMed gnomAD
CA411537598 rs752641514	209	G>A		No	ClinGen ExAC TOPMed gnomAD
CA10185662 rs752641514	209	G>D		No	ClinGen ExAC TOPMed gnomAD
CA10185663 rs61729256	210	L>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1602133583 CA411537611	211	L>P		No	ClinGen Ensembl
CA411537622 rs1480397958	213	Y>C		No	ClinGen TOPMed
CA411537630 rs1380221678	214	Y>C		No	ClinGen gnomAD
CA323616621 rs971051375	217	Q>H		No	ClinGen gnomAD
rs779452615 CA10185688	217	Q>R		No	ClinGen ExAC gnomAD
CA411537874 rs1439546289	218	G>V		No	ClinGen TOPMed gnomAD
TCGA novel	219	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1177536061 CA411537895	221	A>V		No	ClinGen gnomAD
CA411537909 rs376157573	223	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA10185690 COSM1734162 rs376157573	223	T>M	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA323616622 rs369146536	225	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
rs747111711 CA10185692 COSM3405593	225	R>H	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs770924441 CA10185694	227	T>A		No	ClinGen ExAC TOPMed gnomAD
rs770924441 CA10185693	227	T>S		No	ClinGen ExAC TOPMed gnomAD
CA10185696 rs770040385	228	I>T		No	ClinGen ExAC gnomAD
CA10185695 rs759782742	228	I>V		No	ClinGen ExAC TOPMed gnomAD
CA411537939 rs1445949145	229	N>D		No	ClinGen gnomAD
rs775242043 CA10185697	229	N>S		No	ClinGen ExAC gnomAD
CA411537945 rs1447325418	230	L>M		No	ClinGen TOPMed
CA10185699 rs764087977	232	T>I		No	ClinGen ExAC gnomAD
rs371614653 CA10185701	233	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA10185702 rs375249365	233	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs989542358 CA323616626	235	I>S		No	ClinGen TOPMed
CA323616625 rs989542358	235	I>T		No	ClinGen TOPMed
CA411537982 rs1189917377	236	D>G		No	ClinGen gnomAD
CA323616627 rs921997600	237	T>M		No	ClinGen gnomAD
TCGA novel	238	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411538001 rs1314551621	239	D>N		No	ClinGen TOPMed
rs1455216214 CA411538019	241	C>S		No	ClinGen gnomAD
rs1328514185 CA411538039	244	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA411538053 rs1382124964	246	T>I		No	ClinGen TOPMed
CA323616629 rs932087452	247	S>N		No	ClinGen TOPMed gnomAD
CA411538060 rs1343732806	247	S>R		No	ClinGen Ensembl
rs766186671 CA10185706	250	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	251	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411538090 rs1397832282	252	Y>C		No	ClinGen TOPMed gnomAD
rs1326464889 CA411538117	256	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1475567098 CA411538136	258	S>*		No	ClinGen TOPMed
TCGA novel	258	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA323616632 rs914874405	259	E>G		No	ClinGen TOPMed gnomAD
rs113086617 CA323616633	261	D>E		No	ClinGen Ensembl
CA10185711 rs201298398	262	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA10185710 rs373523566	262	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1293937846 CA411538172	264	Q>R		No	ClinGen gnomAD
rs145882890 CA10185712	265	W>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA323616634 rs372468624	268	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs372468624 CA10185714	268	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1218747832 CA411538208	270	E>K		No	ClinGen gnomAD
CA411538215 rs1196579733	271	L>V		No	ClinGen TOPMed
rs749105164 CA10185716	272	A>T		No	ClinGen ExAC
CA10185718 rs201288421	275	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs184514610 CA10185720	278	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10185721 rs772797917	278	R>H		No	ClinGen ExAC TOPMed gnomAD
rs772797917 CA10185722	278	R>P		No	ClinGen ExAC TOPMed gnomAD
rs753497112 CA10185724	279	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA411538279 rs1403473706	281	N>I		No	ClinGen gnomAD
CA10185753 rs373890605	288	G>R		No	ClinGen ESP ExAC gnomAD
rs1166327078 CA411216053	289	D>H		No	ClinGen Ensembl
rs200097992 CA10185758	290	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10185762 CA10185761 rs191090393	291	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA411216080 rs1477057331	292	E>D		No	ClinGen gnomAD
rs769266395 CA10185763	292	E>K		No	ClinGen ExAC TOPMed gnomAD
rs764425206 CA10185764	293	A>S		No	ClinGen ExAC TOPMed gnomAD
CA411216085 rs1318967467	293	A>V		No	ClinGen TOPMed
rs1602389203 CA411216086	294	T>P		No	ClinGen Ensembl
rs1463469922 CA411216096	295	T>I		No	ClinGen TOPMed gnomAD
rs1463469922 CA411216094	295	T>N		No	ClinGen TOPMed gnomAD
CA10185765 rs762152482	295	T>P		No	ClinGen ExAC gnomAD
rs35396069 CA10185766	297	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411216110 rs1602389240	298	D>A		No	ClinGen Ensembl
rs373876520 CA10185768	298	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA10185769 rs377502781	299	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	300	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs925525198 CA323257116	301	E>A		No	ClinGen gnomAD
rs778996357 CA10185772	301	E>K		No	ClinGen ExAC TOPMed gnomAD
rs541507557 CA411216175	307	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758240961 CA10185774	308	N>T		No	ClinGen ExAC gnomAD
CA323257130 rs935715320	309	L>V		No	ClinGen Ensembl
rs1355764405 CA411216189	310	S>P		No	ClinGen gnomAD
rs374139546 CA10185775	313	L>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA411216227 rs1193472098	315	D>E		No	ClinGen gnomAD
CA10185777 rs770719701	318	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1377898378 CA411216257	320	N>D		No	ClinGen TOPMed
rs1186020761 CA411216260	320	N>S		No	ClinGen gnomAD
rs775103109 CA10185781	324	A>T		No	ClinGen ExAC gnomAD
CA10185785 rs5997796	326	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA323257177 rs767615113	327	G>C		No	ClinGen TOPMed gnomAD
CA411216306 rs1602389389	327	G>D		No	ClinGen Ensembl
CA323257172 rs767615113	327	G>S		No	ClinGen TOPMed gnomAD
rs371214985 CA10185787	328	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1033329 CA10185789 rs759516921	329	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1288239157 CA411216318	329	A>V		No	ClinGen gnomAD
rs1281554102 CA411216327	331	Q>*		No	ClinGen gnomAD
COSM1682203 CA10185791 rs752859103	332	R>C	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA10185792 rs370057467	332	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1256073935 CA411216341	333	S>C		No	ClinGen gnomAD
CA10185795 rs546901270	335	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1437474251 CA411216359	336	E>D		No	ClinGen gnomAD
CA10185796 rs202094165	338	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755547940 CA10185798	339	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA323257238 rs922326483	342	I>M		No	ClinGen TOPMed gnomAD
rs779498923 CA10185799	342	I>N		No	ClinGen ExAC TOPMed gnomAD
rs1300808061 CA411216393	342	I>V		No	ClinGen gnomAD
CA323257239 rs866742248	343	P>L		No	ClinGen Ensembl
rs367883542 CA323257242	344	S>P		No	ClinGen ESP TOPMed
rs201160009 CA10185800	350	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1239455412 CA411216463	353	V>M		No	ClinGen gnomAD
TCGA novel	355	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10185803 rs747327005	356	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10185802 rs773995691	356	R>W	Variant assessed as Somatic; 4.645e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1569158694 CA411216492	357	A>G		No	ClinGen Ensembl
CA411216496 rs1602389608	358	T>P		No	ClinGen Ensembl
rs771382561 CA10185804	359	L>R		No	ClinGen ExAC gnomAD
rs1255755243 CA411216501	359	L>V		No	ClinGen gnomAD
CA10185805 rs776976795	360	F>L		No	ClinGen ExAC gnomAD
CA10185806 rs201306954	361	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA10185809 rs775657267	361	R>H		No	ClinGen ExAC TOPMed gnomAD
CA10185808 rs775657267	361	R>L		No	ClinGen ExAC TOPMed gnomAD
rs775657267 CA411216513	361	R>P		No	ClinGen ExAC TOPMed gnomAD
CA10185807 rs201306954	361	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA411216516 rs1425453946	362	I>F		No	ClinGen TOPMed gnomAD
CA411216522 rs1434533047	363	T>A		No	ClinGen gnomAD
CA10185810 rs764409649	364	S>A		No	ClinGen ExAC TOPMed gnomAD
CA411216544 rs1291973246	366	A>G		No	ClinGen TOPMed
CA411216550 rs1457640428	367	M>T		No	ClinGen TOPMed
CA411216548 rs1462477697	367	M>V		No	ClinGen gnomAD
COSM1682204 CA411218315 rs1232252210	370	A>V	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1340781106 CA411218352	375	L>F		No	ClinGen TOPMed
rs1380078857 CA411218367	378	A>T		No	ClinGen TOPMed
rs749694033 CA10185861	379	E>K		No	ClinGen ExAC gnomAD
CA10185862 rs755454223	380	I>V		No	ClinGen ExAC gnomAD
rs779291599 CA10185864	382	S>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	382	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411218401 rs748253574	383	R>G		No	ClinGen ExAC TOPMed gnomAD
rs987366089 CA323266309	383	R>Q		No	ClinGen TOPMed
CA10185865 rs748253574	383	R>W		No	ClinGen ExAC TOPMed gnomAD
CA411218417 rs1423600236	385	W>L		No	ClinGen gnomAD
rs772099698 CA10185866	386	Q>R		No	ClinGen ExAC gnomAD
rs773458323 CA10185867	387	R>Q		No	ClinGen ExAC gnomAD
COSM1033331 CA323266313 rs922992144	387	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA10185868 rs747270414	388	A>S		No	ClinGen ExAC gnomAD
CA411218435 rs1478252504	388	A>V		No	ClinGen TOPMed
CA10185869 rs376843263	390	Q>R		No	ClinGen ESP ExAC gnomAD
rs1282484705 CA411218452	391	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA411218453 rs1282484705	391	Y>F		No	ClinGen TOPMed gnomAD
CA10185872 rs369396566	393	Q>E		No	ClinGen ESP ExAC gnomAD
CA10185871 rs369396566	393	Q>K		No	ClinGen ESP ExAC gnomAD
rs775350176 CA10185873	394	E>K		No	ClinGen ExAC TOPMed gnomAD
CA10185874 rs762505623	396	R>C		No	ClinGen ExAC TOPMed gnomAD
CA10185876 rs201398227	396	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA411218487 rs201398227	396	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10185875 rs762505623	396	R>S		No	ClinGen ExAC TOPMed gnomAD
COSM50655 rs200799345 CA10185878	397	V>M	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs760619396 CA323266379	398	H>L		No	ClinGen Ensembl
rs1189103133 CA411218533	403	I>T		No	ClinGen gnomAD
rs1443680600 CA411218553	406	L>V		No	ClinGen gnomAD
rs376816546 CA323266383	407	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA
CA10185881 rs755365234	409	Q>H		No	ClinGen ExAC gnomAD
CA411218579 rs1271632949	410	H>Y		No	ClinGen TOPMed
CA323266397 rs200779369	411	N>T		No	ClinGen Ensembl
rs895865094 CA323266404	414	E>*		No	ClinGen TOPMed gnomAD
rs895865094 COSM1177520 CA411218606	414	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs202107614 CA10185884	415	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs748651216 CA10185883	415	R>W		No	ClinGen ExAC TOPMed gnomAD
CA411218639 rs1324945557	419	S>G		No	ClinGen TOPMed
rs1332332621 CA411218645	419	S>R		No	ClinGen gnomAD
rs777786798 CA10185885	420	A>V		No	ClinGen ExAC gnomAD
CA323266416 rs904686298	421	P>S		No	ClinGen TOPMed gnomAD
CA323266475 rs370162841	423	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs189335762 CA10185890	423	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370162841 CA10185889	423	R>W	Variant assessed as Somatic; 4.85e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1243020662 CA411218669	424	P>L		No	ClinGen TOPMed gnomAD
CA411218666 rs1199221543	424	P>S		No	ClinGen gnomAD
rs775468125 CA10185892	425	A>D		No	ClinGen ExAC TOPMed gnomAD
CA411218680 rs1416923492	426	N>I		No	ClinGen gnomAD
CA411218678 rs1416923492	426	N>T		No	ClinGen gnomAD
CA411218683 rs1158186386	427	P>T		No	ClinGen gnomAD
CA411218689 rs1252979779	428	S>T		No	ClinGen TOPMed
rs1377970271 CA411218697	429	K>E		No	ClinGen gnomAD
CA411218701 CA323266490 rs904655120	429	K>N		No	ClinGen TOPMed gnomAD
TCGA novel	429	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1170782156 CA411218705	430	S>N		No	ClinGen gnomAD
CA411218723 rs1405184013	432	I>T		No	ClinGen gnomAD
rs559728473 CA10185893	433	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs769068545 CA10185915	435	S>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	436	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374644984 CA10185917	438	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1267882991 CA411218801	441	G>R		No	ClinGen gnomAD
CA411218820 rs1385577961	443	D>E		No	ClinGen TOPMed
rs963423276 CA323267098	443	D>N		No	ClinGen Ensembl
CA411218844 rs1569167097	446	E>D		No	ClinGen Ensembl
CA323267102 rs994537160	447	D>N		No	ClinGen TOPMed gnomAD
CA10185922 rs368427485	451	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1302964185 CA411218890	453	F>L		No	ClinGen TOPMed gnomAD
rs1361543001 CA411218893	453	F>S		No	ClinGen gnomAD
CA411218928 rs142260765	458	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142260765 CA10185926	458	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA323267167 rs917130929	460	T>I		No	ClinGen TOPMed gnomAD
rs1312805083 CA411218960	463	I>L		No	ClinGen gnomAD
CA411218970 rs1602419517	464	T>N		No	ClinGen Ensembl
rs748338099 CA10185930	465	V>M		No	ClinGen ExAC TOPMed gnomAD
rs749031437 CA10185932	468	E>K		No	ClinGen ExAC TOPMed gnomAD
CA10185933 rs768629185	470	K>R		No	ClinGen ExAC gnomAD
rs1243622779 CA411219011	471	E>K		No	ClinGen TOPMed
rs1345523315 CA411219420	474	R>G		No	ClinGen TOPMed
CA411219432 rs1161072492	475	K>I		No	ClinGen TOPMed
CA10185954 rs777767806	475	K>N		No	ClinGen ExAC gnomAD
CA411219435 rs1455822861	476	A>P		No	ClinGen TOPMed
CA411219440 rs1415354885	477	E>K		No	ClinGen gnomAD
rs746490863 CA411219451	478	G>A		No	ClinGen ExAC TOPMed gnomAD
rs746490863 CA10185955	478	G>D		No	ClinGen ExAC TOPMed gnomAD
rs746490863 CA411219452	478	G>V		No	ClinGen ExAC TOPMed gnomAD
CA411219456 rs1188742421	479	S>T		No	ClinGen TOPMed
CA323236592 rs943797904	480	T>N		No	ClinGen TOPMed
CA411219463 rs1476191788	480	T>S		No	ClinGen TOPMed
CA10185957 rs776120654 CA411219466	481	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1262839146 CA411219472	482	T>A		No	ClinGen TOPMed
rs35702187 CA10185959	482	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10185961 rs762172674	483	S>N		No	ClinGen ExAC TOPMed gnomAD
CA411219490 rs376852480	485	V>L		No	ClinGen TOPMed gnomAD
CA323236652 rs376852480	485	V>M		No	ClinGen TOPMed gnomAD
CA411219497 rs1321322922	486	D>G		No	ClinGen gnomAD
rs1033853388 CA411219494	486	D>N		No	ClinGen TOPMed
CA323236665 rs1033853388	486	D>Y		No	ClinGen TOPMed
TCGA novel	487	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760647066 CA10185964 CA411219501	487	W>R		No	ClinGen ExAC gnomAD
CA10185965 rs766520377	488	S>R		No	ClinGen ExAC gnomAD
CA411219528 rs1179956963	491	D>N		No	ClinGen gnomAD
CA10185966 rs753893861	492	N>S		No	ClinGen ExAC TOPMed gnomAD
rs753893861 CA411219540	492	N>T		No	ClinGen ExAC TOPMed gnomAD
rs757161855 CA10185993	493	V>G		No	ClinGen ExAC gnomAD
CA10185992 rs180898388	493	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10185994 rs780996953	494	L>P		No	ClinGen ExAC gnomAD
CA323237017 rs1055359185	495	D>G		No	ClinGen TOPMed
rs769729099 CA10185996	496	G>T		No	ClinGen ExAC
rs374035667 CA10185999	498	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA10186001 rs778150740	499	L>I		No	ClinGen ExAC TOPMed gnomAD
rs200532645 COSM1243474 CA10186003	500	V>M	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1197667059 CA411219597	501	P>A		No	ClinGen TOPMed
rs746884351 CA10186005	502	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1013749234 CA323237089	503	G>C		No	ClinGen TOPMed
CA10186006 rs770037079	503	G>D		No	ClinGen ExAC gnomAD
CA411219619 rs1298566748	504	S>L		No	ClinGen gnomAD
rs1045911167 CA323237091	505	S>A		No	ClinGen gnomAD
rs1380423282 CA411219640	508	K>E		No	ClinGen TOPMed gnomAD
rs1482683922 CA411219643	508	K>R		No	ClinGen TOPMed
CA411219649 rs200412151	509	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA10186007 rs200412151	509	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA323237099 rs796632136	510	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA10186008 rs763190138	510	R>Q		No	ClinGen ExAC
rs1341165965 CA411219664	512	R>C		No	ClinGen gnomAD
COSM1535279 CA10186009 rs372873880	512	R>H	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1341165965 CA411219662	512	R>S		No	ClinGen gnomAD
CA411219678 rs1342551103	514	P>H		No	ClinGen TOPMed
CA10186010 rs751302268	515	N>S		No	ClinGen ExAC TOPMed gnomAD
CA411219698 rs1241415820	517	P>H		No	ClinGen gnomAD
rs538150921 CA10186012	518	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs750411254 CA10186013	519	Y>C		No	ClinGen ExAC gnomAD
rs779791614 CA323237184	522	N>H		No	ClinGen Ensembl
CA411219769 rs892969852	527	M>K		No	ClinGen Ensembl
CA323237201 rs892969852	527	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs377663086 CA323237206	529	N>D		No	ClinGen Ensembl
CA323237213 rs996789022	529	N>S		No	ClinGen Ensembl
rs1461384458 CA411219791	530	C>Y		No	ClinGen gnomAD
rs753367837 CA10186017	532	G>D		No	ClinGen ExAC gnomAD
CA411219803 rs1240948789	532	G>S		No	ClinGen gnomAD
CA323237243 rs891144171	533	R>Q		No	ClinGen TOPMed gnomAD
rs202112750 CA10186018	533	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	537	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411219836 rs1402740871	537	R>S		No	ClinGen gnomAD
rs747391730 CA10186020	539	P>R		No	ClinGen ExAC TOPMed gnomAD
CA323237260 rs781243314	540	M>I		No	ClinGen TOPMed
rs781758349	541	P>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs771255313 COSM1033332 CA10186022	541	P>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	541	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411220217 rs1214703921	545	N>K		No	ClinGen gnomAD
rs201627938 CA10186050	545	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA411220221 rs1475216862	546	E>K		No	ClinGen gnomAD
CA323238372 rs887083841	547	P>S		No	ClinGen TOPMed gnomAD
CA411220240 rs887083841	547	P>T		No	ClinGen TOPMed gnomAD
rs760467676 CA10186051	548	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA411220283 rs1490781912	550	M>I		No	ClinGen TOPMed gnomAD
CA10186053 rs369610933	550	M>T		No	ClinGen ESP ExAC TOPMed
rs1268169825 CA411220313	553	R>Q		No	ClinGen gnomAD
CA411220310 rs1219908596	553	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA411220323 rs759061804	555	T>I		No	ClinGen ExAC gnomAD
CA10186054 rs759061804	555	T>R		No	ClinGen ExAC gnomAD
rs1188397195 CA411220326	556	E>*		No	ClinGen TOPMed gnomAD
CA10186055 rs764691938	557	D>G		No	ClinGen ExAC gnomAD
rs1164480950 CA411220390	561	H>Q		No	ClinGen gnomAD
rs1387242914 CA411220407	563	L>Q		No	ClinGen gnomAD
rs1421779532 CA411220413	564	L>M		No	ClinGen TOPMed gnomAD
CA411220415 rs1421779532	564	L>V		No	ClinGen TOPMed gnomAD
CA411220450 CA411220448 rs1163326015	566	K>N		No	ClinGen TOPMed gnomAD
CA411220472 rs1266328545	568	V>A		No	ClinGen TOPMed
CA411220479 rs1287582762	569	H>Y		No	ClinGen gnomAD
CA10186059 rs371681629	570	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1361139215 CA411220591	577	M>K		No	ClinGen gnomAD
rs1217886976 CA411220653	582	A>T		No	ClinGen gnomAD
CA10186065 rs748239834	582	A>V		No	ClinGen ExAC gnomAD
rs773485526 CA411220696	585	V>L		No	ClinGen ExAC gnomAD
rs773485526 CA10186068	585	V>M		No	ClinGen ExAC gnomAD
CA411220715 rs1183419736	586	S>F		No	ClinGen gnomAD
rs1402763452 CA411220726	587	S>F		No	ClinGen gnomAD
CA323238470 rs948030097	589	S>F		No	ClinGen Ensembl
CA411220768 rs1345060385	591	T>K		No	ClinGen TOPMed gnomAD
CA411220775 rs1456307535	592	V>G		No	ClinGen TOPMed gnomAD
CA411220781 rs1336817328	593	H>R		No	ClinGen gnomAD
rs373508850 CA10186070	594	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA10186072 rs776598212	596	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1225187788 CA411220855	599	F>S		No	ClinGen gnomAD
rs1267999132 CA411220881	601	P>S		No	ClinGen gnomAD
CA10186074 rs769786455	602	M>I		No	ClinGen ExAC gnomAD
rs745826009 CA323238541	604	G>W		No	ClinGen Ensembl
TCGA novel	605	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1459998985 CA411220987	608	E>D		No	ClinGen gnomAD
CA10186076 rs762623108	608	E>K		No	ClinGen ExAC gnomAD
CA323238545 rs756059349	609	L>V		No	ClinGen Ensembl
TCGA novel	610	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1183258470 CA411221015	611	R>C		No	ClinGen gnomAD
rs1233601034 CA411221016	611	R>H		No	ClinGen gnomAD
CA323238552 rs758595430	612	L>V		No	ClinGen Ensembl
CA10186078 rs41282553	613	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1208609404 CA411221046	614	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs754249899 CA10186081	615	M>V		No	ClinGen ExAC gnomAD
rs1212863229 CA411221073	616	G>S		No	ClinGen gnomAD
CA10186083 rs779479198	618	R>C	Variant assessed as Somatic; 5.714e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1354692147 CA411221110	618	R>H		No	ClinGen TOPMed gnomAD
CA411221101 rs779479198	618	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1257969538 CA411221139	621	C>S		No	ClinGen gnomAD
rs1277551448 CA411221146	622	E>G		No	ClinGen gnomAD
CA411221412 rs1602429248	626	H>P		No	ClinGen Ensembl
CA411221420 rs1602429254	627	H>P		No	ClinGen Ensembl
CA411221423 CA10186109 rs552962356	627	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1297153643 CA411221425	628	P>A		No	ClinGen TOPMed gnomAD
rs1297153643 CA411221424	628	P>T		No	ClinGen TOPMed gnomAD
rs768739585 CA323240779	629	P>A		No	ClinGen ExAC TOPMed gnomAD
rs182014737 CA10186115	629	P>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs182014737 CA411221431	629	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10186116 rs182014737	629	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10186114 rs768739585	629	P>S		No	ClinGen ExAC TOPMed gnomAD
rs768739585 CA411221430	629	P>T		No	ClinGen ExAC TOPMed gnomAD
CA10186120 rs765672869	630	S>L		No	ClinGen ExAC TOPMed gnomAD
CA323240846 rs1036327739	631	A>P		No	ClinGen Ensembl
rs763399836 CA10186122 COSM1308070	632	A>V	Variant assessed as Somatic; 0.0002786 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs751635643 CA10186124	633	H>R		No	ClinGen ExAC TOPMed gnomAD
CA411221488 rs1251219159	638	K>N		No	ClinGen gnomAD
rs994613256 CA323240875	639	H>R		No	ClinGen TOPMed
rs767612450 CA10186126	641	W>*		No	ClinGen ExAC TOPMed gnomAD
rs200062217 CA10186127	642	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199797396 CA10186128	642	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	644	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1194318178 CA411221554	647	I>M		No	ClinGen TOPMed gnomAD
CA10186132 rs749106633	648	T>S		No	ClinGen ExAC
rs1399085109 CA411221572	650	S>F		No	ClinGen gnomAD
CA10186134 rs779056913	652	K>N		No	ClinGen ExAC gnomAD
rs772707852 CA10186137	654	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs771660831 CA10186136	654	R>W		No	ClinGen ExAC gnomAD
rs1330917217 CA411221603	655	G>E		No	ClinGen TOPMed
CA10186138 rs746631031	656	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1020627087 CA323240997	657	Y>H		No	ClinGen TOPMed
rs567050952 CA411221647	658	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10186140 rs371407014	661	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371407014 CA10186141	661	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs966491056 CA323241013	662	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1266918142 CA411221689	662	P>S		No	ClinGen gnomAD
CA411221792 rs1195775351	665	A>T		No	ClinGen TOPMed
CA10186171 rs759374438	669	E>K	Variant assessed as Somatic; 4.638e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10186172 rs765083973	669	E>V		No	ClinGen ExAC gnomAD
CA10186174 rs35988107 RCV000955602	673	S>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA411221974 rs1263944195	677	Y>C		No	ClinGen TOPMed
CA323241363 rs375434954	678	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA10186176 rs375434954	678	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA10186178 rs780791788	682	S>G		No	ClinGen ExAC gnomAD
rs1189597149 CA411222082	685	T>A		No	ClinGen TOPMed gnomAD
CA10186179 rs370229726	687	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA411222105 rs1266792857	687	H>Y		No	ClinGen gnomAD
CA10186180 rs769461981	688	N>I		No	ClinGen ExAC gnomAD
rs769461981 CA323241385	688	N>S		No	ClinGen ExAC gnomAD
rs779282269 CA10186181	689	I>T		No	ClinGen ExAC gnomAD
rs1164597850 CA411222154	691	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA411222240 rs773647723	697	D>E		No	ClinGen ExAC gnomAD
CA323241404 rs967555975	697	D>N		No	ClinGen TOPMed
TCGA novel	703	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA323241573 rs1002382369	703	E>K		No	ClinGen TOPMed gnomAD
CA411222371 rs1245123745	705	V>L		No	ClinGen gnomAD
CA10186217 rs755634986	707	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA323241615 rs896172406	710	N>S		No	ClinGen TOPMed gnomAD
CA411222452 rs1602430683	711	D>A		No	ClinGen Ensembl
CA10186220 rs777447564	712	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs753468731 CA10186219	712	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA411222472 rs1385846106	713	C>Y		No	ClinGen gnomAD
CA411222534 rs1456189978	718	L>V		No	ClinGen gnomAD
CA10186221 rs777949664	719	P>A		No	ClinGen ExAC gnomAD
rs1445626901 CA411222566	720	Y>*		No	ClinGen gnomAD
CA411222648 rs1374028476	726	E>D		No	ClinGen gnomAD
CA411222682 rs548187834	729	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10186224 rs548187834 COSM725918	729	R>Q	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1009182762 CA323241683	729	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1224136662 CA411222697	730	K>N		No	ClinGen gnomAD
rs1490646228 CA411222773	733	G>E		No	ClinGen gnomAD
CA411222775 rs1247969067	734	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs764983988 CA411222801	736	S>N		No	ClinGen ExAC TOPMed gnomAD
CA10186239 rs764983988	736	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1171643230 CA411222832	738	S>N		No	ClinGen gnomAD
rs1419715882 CA411222838	738	S>R		No	ClinGen gnomAD
CA323241792 rs953552864	739	Q>P		No	ClinGen TOPMed
CA411222876 rs1166478053	741	K>R		No	ClinGen gnomAD
rs1157103508 CA411222888	742	A>D		No	ClinGen TOPMed
CA323241793 rs867704373	744	Y>H		No	ClinGen Ensembl
rs757746296 CA10186242	745	V>L		No	ClinGen ExAC TOPMed gnomAD
CA10186241 rs757746296	745	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1329424145 CA411222939	747	S>Y		No	ClinGen gnomAD
COSM444875 rs367777319 CA10186244	748	G>S	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs370041552 CA10186245	749	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA411222968 rs1274333840	750	W>R		No	ClinGen gnomAD
rs972062179 CA323241869	755	E>D		No	ClinGen TOPMed
CA411223053 rs1569171440	755	E>G		No	ClinGen Ensembl
CA411223048 rs1212181838	755	E>K		No	ClinGen gnomAD
CA411223084 rs1288266882	757	S>F		No	ClinGen gnomAD
CA411223105 rs1197533794	759	V>F		No	ClinGen gnomAD
CA411223111 rs1214005463	759	V>G		No	ClinGen TOPMed
CA411223121 rs1450910310	760	M>T		No	ClinGen gnomAD
VAR_053546 rs34240867 CA10186248	760	M>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs199668359 CA10186249	761	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA411223170 rs1444945995	764	P>A		No	ClinGen gnomAD
CA411223173 rs1164947227	764	P>H		No	ClinGen gnomAD
CA411223177 rs1164947227	764	P>L		No	ClinGen gnomAD
rs1319034067 CA411223193	765	S>R		No	ClinGen gnomAD
rs771892551 CA10186251	768	S>C		No	ClinGen ExAC TOPMed gnomAD
rs773018687 CA10186252	768	S>I		No	ClinGen ExAC gnomAD
rs34929946 CA10186254 CA411223263	770	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	770	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775936768 CA10186255	771	G>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	773	Q>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411223305 rs1283001850	776	V>A		No	ClinGen gnomAD
rs1283001850 CA411223306	776	V>G		No	ClinGen gnomAD
CA10186258 rs752439752	780	L>M		No	ClinGen ExAC
rs1268236661 CA411223336	780	L>P		No	ClinGen TOPMed gnomAD
CA411223361 rs1206443153	783	K>Q		No	ClinGen TOPMed gnomAD
CA411223394 rs1189351536	786	W>R		No	ClinGen gnomAD
rs1366684425 CA411223412	787	K>E		No	ClinGen TOPMed gnomAD
rs762727484 CA10186259	787	K>N		No	ClinGen ExAC gnomAD
CA411223447 rs1602431507	789	Y>S		No	ClinGen Ensembl
CA323241977 rs973411668	790	P>L		No	ClinGen TOPMed gnomAD
CA10186261 rs750813590	790	P>T		No	ClinGen ExAC TOPMed gnomAD
CA10186263 rs780682651	792	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1332574611 CA411223482	792	P>S		No	ClinGen gnomAD
rs1370245887 CA411225119	794	N>K		No	ClinGen TOPMed gnomAD
rs1387950084 CA411225125	795	A>G		No	ClinGen gnomAD
rs1367705979 CA411225123	795	A>S		No	ClinGen TOPMed gnomAD
rs1367705979 CA411225121	795	A>T		No	ClinGen TOPMed gnomAD
CA10186304 rs748876741	796	E>K		No	ClinGen ExAC gnomAD
CA411225153 rs1167470785	798	M>I		No	ClinGen TOPMed
rs938316123 CA323250345	799	Y>D		No	ClinGen gnomAD
rs774105486 CA10186306	800	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs768413026 CA10186305	800	Y>H		No	ClinGen ExAC
CA10186307 rs373026728	801	F>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA411225186 rs1490296617	803	E>Q		No	ClinGen TOPMed
CA10186309 rs776880313	804	L>M		No	ClinGen ExAC gnomAD
CA323250360 rs913025770	805	A>V		No	ClinGen Ensembl
CA10186310 rs759975214	809	N>K		No	ClinGen ExAC TOPMed gnomAD
COSM3379301 rs765737055 CA10186311	810	E>K	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs758531103 CA10186314	812	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA10186315 rs548359613	813	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	814	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs568444280 CA10186318	815	V>I	Variant assessed as Somatic; 0.0005611 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1344643894 CA411225294	816	A>S		No	ClinGen TOPMed
CA411225297 rs1389629648	816	A>V		No	ClinGen gnomAD
CA411225318 rs1362785195	819	D>Y		No	ClinGen gnomAD
CA411225333 rs1313432337	821	R>S		No	ClinGen TOPMed gnomAD
TCGA novel	822	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1353047662 CA411225354	823	R>P		No	ClinGen TOPMed
rs1219525485 CA411225360	824	P>A		No	ClinGen gnomAD
CA411225370 rs1404389112	825	D>V		No	ClinGen TOPMed
CA323250487 rs1042880246	827	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA10186324 rs773762192	827	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1602456040 CA411225400	829	M>V		No	ClinGen Ensembl
rs1602456061 CA411225411	830	E>G		No	ClinGen Ensembl
rs747783224 CA10186325	830	E>K		No	ClinGen ExAC gnomAD
rs1602456072 CA411225424	832	G>S		No	ClinGen Ensembl
rs776910799 CA10186327	833	R>C		No	ClinGen ExAC TOPMed gnomAD
rs776910799 CA411225434	833	R>G		No	ClinGen ExAC TOPMed gnomAD
CA10186328 COSM1415747 rs759958825	833	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1569178475 CA411225444	834	W>*		No	ClinGen Ensembl
rs776025563 CA10186330	835	D>G		No	ClinGen ExAC gnomAD
CA411225450 rs1422560692	835	D>Y		No	ClinGen TOPMed gnomAD
CA10186331 rs373681969	836	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411225463 rs1385986044	837	A>T		No	ClinGen gnomAD
rs1429816607 CA411225476	838	N>S		No	ClinGen gnomAD
CA411225489 rs1303186831	840	E>K		No	ClinGen TOPMed gnomAD
rs1191182871 CA411225508	842	Q>E		No	ClinGen TOPMed gnomAD
CA10186333 rs751604014	842	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs762029972 CA411225516	843	R>G		No	ClinGen ExAC gnomAD
rs1311829913 CA411225517	843	R>Q		No	ClinGen TOPMed gnomAD
CA10186334 rs762029972	843	R>W		No	ClinGen ExAC gnomAD
rs1266547826 CA411225533	845	E>K		No	ClinGen gnomAD
rs1328720124 CA411225544	846	E>G		No	ClinGen gnomAD
CA323250531 rs906348599	847	K>T		No	ClinGen TOPMed
rs1414965107 CA411225558	848	Q>E		No	ClinGen gnomAD
CA411225567 rs1211325582	849	R>G		No	ClinGen TOPMed gnomAD
rs756024625 CA10186337	850	L>M		No	ClinGen ExAC TOPMed gnomAD
CA10186338 rs780113408	850	L>R		No	ClinGen ExAC gnomAD
CA411225574 rs756024625	850	L>V		No	ClinGen ExAC TOPMed gnomAD
CA411225585 rs1253147849	851	S>L		No	ClinGen gnomAD
rs754890196 CA10186340	852	R>L		No	ClinGen ExAC gnomAD
rs754890196 CA10186341	852	R>Q		No	ClinGen ExAC gnomAD
CA10186339 rs753790117	852	R>W		No	ClinGen ExAC gnomAD
CA10186342 rs747613055	853	R>C		No	ClinGen ExAC TOPMed gnomAD
rs377386207 CA10186343 RCV000967586	853	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA10186345 rs746210030	854	R>Q		No	ClinGen ExAC gnomAD
CA10186344 rs777458054	854	R>W		No	ClinGen ExAC gnomAD
rs1351033294 CA411225613	855	R>Q		No	ClinGen gnomAD
rs1286509270 CA411225619	856	L>V		No	ClinGen gnomAD
CA10186348 rs763459669	857	E>D		No	ClinGen ExAC gnomAD
rs775855979 CA10186347	857	E>G		No	ClinGen ExAC TOPMed gnomAD
CA411225646 rs1399344187	859	C>*		No	ClinGen TOPMed
CA10186349 rs769049978	859	C>R		No	ClinGen ExAC gnomAD
CA411225653 rs1176271368	860	G>E		No	ClinGen TOPMed
CA10186350 CA411225649 rs774486423	860	G>R		No	ClinGen ExAC TOPMed gnomAD
CA323250606 rs3804083	861	P>A		No	ClinGen TOPMed
CA323250610 rs1025648073	861	P>L		No	ClinGen gnomAD
rs1025648073 CA411225658	861	P>Q		No	ClinGen gnomAD
rs1025648073 CA411225659	861	P>R		No	ClinGen gnomAD
TCGA novel	861	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA323250590 rs3804083	861	P>T		No	ClinGen TOPMed
CA323250619 rs1005604421	864	S>G		No	ClinGen Ensembl
CA10186354 rs750718360	866	S>N		No	ClinGen ExAC gnomAD
rs761012867 CA10186355	867	S>*		No	ClinGen ExAC TOPMed gnomAD
CA411225706 rs761012867	867	S>L		No	ClinGen ExAC TOPMed gnomAD
rs748557497 CA10186391	871	K>E		No	ClinGen ExAC TOPMed gnomAD
rs772716275 CA10186392	872	E>A		No	ClinGen ExAC gnomAD
CA411225806 rs773355078	873	A>E		No	ClinGen ExAC TOPMed gnomAD
rs773355078 CA10186393	873	A>V		No	ClinGen ExAC TOPMed gnomAD
CA10186395 rs554774114	875	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759342507 CA10186397	876	Y>D		No	ClinGen ExAC TOPMed gnomAD
rs574796951 CA10186398	877	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs574796951 CA411225890	877	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA411225943 rs1569178902	880	W>*		No	ClinGen Ensembl
rs762811572 CA10186400	882	E>A		No	ClinGen ExAC gnomAD
TCGA novel	882	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10186401 rs762811572	882	E>G		No	ClinGen ExAC gnomAD
CA411225977 rs1282874190 COSM3800138	882	E>Q	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA411226018 rs1268414123	885	L>V		No	ClinGen gnomAD
CA411226047 rs3804085	886	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368445421 CA10186405	888	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200815730 CA10186407 CA10186408	890	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1394113039 CA411226101	891	E>*		No	ClinGen TOPMed gnomAD
rs758965012 CA10186409	891	E>A		No	ClinGen ExAC TOPMed gnomAD
CA10186410 rs778478467	891	E>D		No	ClinGen ExAC gnomAD
CA411226104 rs758965012	891	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1394113039 CA411226097	891	E>K		No	ClinGen TOPMed gnomAD
rs1602457098 CA411226139	893	A>G		No	ClinGen Ensembl
rs200895779 CA10186411	895	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771174490 CA10186412	896	Y>S		No	ClinGen ExAC gnomAD
CA411226183 rs1253259760	897	K>Q		No	ClinGen TOPMed
rs746028741 CA10186414	900	Y>*		No	ClinGen ExAC gnomAD
CA323250923 rs888408531	900	Y>H		No	ClinGen Ensembl
CA10186415 rs770060182	903	A>G		No	ClinGen ExAC gnomAD
rs1355381602 CA411226326	908	D>N		No	ClinGen gnomAD
rs1413685645 CA411226351	909	W>*		No	ClinGen TOPMed gnomAD
rs1288451627 CA411226367	910	H>P		No	ClinGen gnomAD
rs528544450 CA10186417	911	M>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10186418 rs528544450	911	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1045143073 CA323250933	911	M>V		No	ClinGen Ensembl
rs1345517831 CA411226408	913	P>A		No	ClinGen gnomAD
rs367679150 CA10186420	914	N>D		No	ClinGen ESP ExAC gnomAD

No associated diseases with Q969R2

2 regional properties for Q969R2

Type	Name	Position	InterPro Accession
domain	Pleckstrin homology domain	182 - 276	IPR001849
conserved_site	Oxysterol-binding protein, conserved site	622 - 632	IPR018494

Functions

		Description
EC Number
Subcellular Localization	Membrane; Peripheral membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
apical dendrite	A dendrite that emerges near the apical pole of a neuron. In bipolar neurons, apical dendrites are located on the opposite side of the soma from the axon.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
perinuclear endoplasmic reticulum	The portion of endoplasmic reticulum, the intracellular network of tubules and cisternae, that occurs near the nucleus. The lumen of the perinuclear endoplasmic reticulum is contiguous with the nuclear envelope lumen (also called perinuclear space), the region between the inner and outer nuclear membranes.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

3 GO annotations of molecular function

Name	Definition
cholesterol binding	Binding to cholesterol (cholest-5-en-3-beta-ol); the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones.
sterol binding	Binding to a sterol, a steroid containing a hydroxy group in the 3 position, closely related to cholestan-3-ol.
sterol transporter activity	Enables the directed movement of sterols into, out of or within a cell, or between cells. Sterol are steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule.

1 GO annotations of biological process

Name	Definition
spermatid development	The process whose specific outcome is the progression of a spermatid over time, from its formation to the mature structure.

9 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9BZF1	OSBPL8	Oxysterol-binding protein-related protein 8	Homo sapiens (Human)	PR
Q9H0X9	OSBPL5	Oxysterol-binding protein-related protein 5	Homo sapiens (Human)	PR
Q9H1P3	OSBPL2	Oxysterol-binding protein-related protein 2	Homo sapiens (Human)	PR
P22059	OSBP	Oxysterol-binding protein 1	Homo sapiens (Human)	PR
Q3B7Z2	Osbp	Oxysterol-binding protein 1	Mus musculus (Mouse)	PR
Q5QNQ6	Osbp2	Oxysterol-binding protein 2	Mus musculus (Mouse)	PR
Q8S8P9	ORP1B	Oxysterol-binding protein-related protein 1B	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SAF0	ORP1D	Oxysterol-binding protein-related protein 1D	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8L751	ORP1C	Oxysterol-binding protein-related protein 1C	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MGKAAAPSRG	GGCGGRSRGL	SSLFTVVPCL	SCHTAAPGMS	ASTSGSGPEP	KPQPQPVPEP
70	80	90	100	110	120
ERGPLSEQVS	EAVSEAVPRS	EPVSETTSEP	EPGAGQPSEL	LQGSRPGSES	SSGVGAGPFT
130	140	150	160	170	180
KAASEPLSRA	VGSATFLRPE	SGSLPALKPL	PLLRPGQAKT	PLGVPMSGTG	TTSSAPLALL
190	200	210	220	230	240
PLDSFEGWLL	KWTNYLKGYQ	RRWFVLGNGL	LSYYRNQGEM	AHTCRGTINL	STAHIDTEDS
250	260	270	280	290	300
CGILLTSGAR	SYHLKASSEV	DRQQWITALE	LAKAKAVRVM	NTHSDDSGDD	DEATTPADKS
310	320	330	340	350	360
ELHHTLKNLS	LKLDDLSTCN	DLIAKHGAAL	QRSLTELDGL	KIPSESGEKL	KVVNERATLF
370	380	390	400	410	420
RITSNAMINA	CRDFLELAEI	HSRKWQRALQ	YEQEQRVHLE	ETIEQLAKQH	NSLERAFHSA
430	440	450	460	470	480
PGRPANPSKS	FIEGSLLTPK	GEDSEEDEDT	EYFDAMEDST	SFITVITEAK	EDSRKAEGST
490	500	510	520	530	540
GTSSVDWSSA	DNVLDGASLV	PKGSSKVKRR	VRIPNKPNYS	LNLWSIMKNC	IGRELSRIPM
550	560	570	580	590	600
PVNFNEPLSM	LQRLTEDLEY	HHLLDKAVHC	TSSVEQMCLV	AAFSVSSYST	TVHRIAKPFN
610	620	630	640	650	660
PMLGETFELD	RLDDMGLRSL	CEQVSHHPPS	AAHYVFSKHG	WSLWQEITIS	SKFRGKYISI
670	680	690	700	710	720
MPLGAIHLEF	QASGNHYVWR	KSTSTVHNII	VGKLWIDQSG	DIEIVNHKTN	DRCQLKFLPY
730	740	750	760	770	780
SYFSKEAARK	VTGVVSDSQG	KAHYVLSGSW	DEQMECSKVM	HSSPSSPSSD	GKQKTVYQTL
790	800	810	820	830	840
SAKLLWKKYP	LPENAENMYY	FSELALTLNE	HEEGVAPTDS	RLRPDQRLME	KGRWDEANTE
850	860	870	880	890	900
KQRLEEKQRL	SRRRRLEACG	PGSSCSSEEE	KEADAYTPLW	FEKRLDPLTG	EMACVYKGGY
910
WEAKEKQDWH	MCPNIF