AiPD: Autoinhibited Protein Database

Q9H0X9

Gene name	OSBPL5
Protein name	Oxysterol-binding protein-related protein 5
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:114879
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

289-360 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

289-360 (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 Q9H0X9

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9H0X9-F1	Predicted				AlphaFoldDB

850 variants for Q9H0X9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1306328082 CA379164445	4	E>G		No	ClinGen gnomAD
CA5825707 rs748275638	5	A>P		No	ClinGen ExAC TOPMed gnomAD
CA379164429 rs1327855316	5	A>V		No	ClinGen gnomAD
CA379164424 rs1285955394	6	F>I		No	ClinGen TOPMed gnomAD
CA379164426 rs1285955394	6	F>L		No	ClinGen TOPMed gnomAD
rs566705914 CA5825706	7	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5825704 rs374354189	8	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs367574888 CA5825705	8	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1436120489 CA379164393	9	R>C		No	ClinGen TOPMed gnomAD
rs1436120489 CA379164395	9	R>G		No	ClinGen TOPMed gnomAD
CA5825703 rs534210917	9	R>H		No	ClinGen ExAC TOPMed gnomAD
CA216427887 rs534210917	9	R>P		No	ClinGen ExAC TOPMed gnomAD
CA5825702 rs747214162	10	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5825701 rs370423999	10	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA379164388 rs747214162	10	R>S		No	ClinGen ExAC TOPMed gnomAD
CA379164362 rs1387960091	12	S>A		No	ClinGen gnomAD
rs746558203 CA5825700	12	S>F		No	ClinGen ExAC gnomAD
rs746558203 CA379164360	12	S>Y		No	ClinGen ExAC gnomAD
CA216427860 rs551861110	14	C>Y		No	ClinGen 1000Genomes
CA379164313 rs1476918111	16	P>L		No	ClinGen gnomAD
rs752409175 CA5825697	16	P>S		No	ClinGen ExAC gnomAD
rs1428631714 CA379164279	19	T>I		No	ClinGen TOPMed
CA5825695 rs149631640	20	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs765072053 CA5825696	20	P>T		No	ClinGen ExAC gnomAD
rs921057456 CA216427843	21	Q>R		No	ClinGen TOPMed
CA379164231 rs1464353870	23	V>A		No	ClinGen gnomAD
rs138284443 CA5825693	24	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs150443775 CA216427783	26	R>P		No	ClinGen ESP TOPMed gnomAD
rs150443775 CA216427786	26	R>Q		No	ClinGen ESP TOPMed gnomAD
TCGA novel	26	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1217176983 CA379164191	27	K>E		No	ClinGen gnomAD
CA216427747 rs758721623	30	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5825689 COSM3383423 rs761967795	30	R>Q	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs758721623 CA5825690	30	R>W	Variant assessed as Somatic; 0.0003553 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA379164123 rs1478716543	32	L>F		No	ClinGen Ensembl
rs774579932 CA5825688	35	S>G		No	ClinGen ExAC TOPMed gnomAD
CA216427719 rs774579932	35	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1467595321 CA379164089	36	G>R		No	ClinGen gnomAD
CA5825685 CA5825686 rs141688462	37	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA5825684 rs770270209	38	N>D		No	ClinGen ExAC gnomAD
CA5825682 rs777355887	39	E>D		No	ClinGen ExAC TOPMed gnomAD
CA5825683 rs746387485	39	E>K		No	ClinGen ExAC gnomAD
CA379163987 rs1246056355	44	S>N		No	ClinGen gnomAD
CA5825680 rs747760091	45	P>L		No	ClinGen ExAC gnomAD
rs374651925 CA5825658	46	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1409488245 CA379163668	47	K>N		No	ClinGen gnomAD
CA379163657 rs1394040110	49	M>L		No	ClinGen TOPMed gnomAD
CA379163658 rs1394040110	49	M>V		No	ClinGen TOPMed gnomAD
TCGA novel	51	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779656230 CA5825657	52	N>S		No	ClinGen ExAC gnomAD
CA5825655 rs549434348	53	G>S		No	ClinGen 1000Genomes ExAC gnomAD
rs35933962 CA5825653 RCV000967188	54	P>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs35933962 CA379163621	54	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs35933962 CA5825654	54	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370581882 CA5825651	55	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA379163601 rs1269066463	58	R>T		No	ClinGen gnomAD
rs185192473 CA5825648	59	D>E		No	ClinGen 1000Genomes ExAC gnomAD
CA379163593 rs1489020884	59	D>G		No	ClinGen gnomAD
rs1211940330 CA379163597	59	D>Y		No	ClinGen gnomAD
CA216425179 rs111931449	61	G>E		No	ClinGen Ensembl
CA5825645 rs201518381	62	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA5825643 rs773935542	63	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	63	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5825641 rs748843576	64	T>A		No	ClinGen ExAC gnomAD
CA5825640 rs775240909	64	T>I		No	ClinGen ExAC TOPMed gnomAD
CA379163564 rs775240909	64	T>N		No	ClinGen ExAC TOPMed gnomAD
rs769452544 CA5825639	65	P>R		No	ClinGen ExAC gnomAD
rs1323799974 CA379163560	65	P>T		No	ClinGen gnomAD
rs1388694884 CA379163556	66	S>G		No	ClinGen gnomAD
CA5825638 rs745718340	66	S>T		No	ClinGen ExAC TOPMed gnomAD
rs757118246 CA5825635	69	T>M		No	ClinGen ExAC TOPMed gnomAD
CA216425121 rs1014757299	70	K>E		No	ClinGen gnomAD
CA379163527 rs1209801768	70	K>N		No	ClinGen TOPMed gnomAD
rs758534484 CA5825632	71	V>M		No	ClinGen ExAC gnomAD
CA5825631 rs752828587	73	P>L		No	ClinGen ExAC TOPMed gnomAD
CA379163488 rs1211347684	75	E>G		No	ClinGen TOPMed
TCGA novel	76	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752183600 CA5825600	77	R>G		No	ClinGen ExAC gnomAD
rs1432000055 CA379163475	77	R>K		No	ClinGen gnomAD
CA5825597 rs201350460	81	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA379163440 rs1221069431	82	S>*		No	ClinGen TOPMed
CA379163438 rs967779364	83	D>H		No	ClinGen TOPMed
CA216421628 rs967779364	83	D>N		No	ClinGen TOPMed
CA5825596 rs770678661	86	C>F		No	ClinGen ExAC gnomAD
rs760510484 CA5825595	87	V>M		No	ClinGen ExAC gnomAD
CA379163402 rs1212604867	88	S>P		No	ClinGen Ensembl
CA379163400 rs1255657028	88	S>Y		No	ClinGen gnomAD
rs748044156 CA5825592	89	P>A		No	ClinGen ExAC gnomAD
rs748044156 CA5825593	89	P>S		No	ClinGen ExAC gnomAD
VAR_060079 CA5825591 rs6578323	90	T>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1590682694 CA379163393	90	T>P		No	ClinGen Ensembl
CA5825589 rs749482626	91	A>T		No	ClinGen ExAC TOPMed gnomAD
CA379163386 rs1564843991	91	A>V		No	ClinGen Ensembl
rs1284716556 CA379163382	92	R>W		No	ClinGen gnomAD
rs1445762550 CA379163374	93	V>F		No	ClinGen TOPMed
rs1353085511 CA379163369	94	T>A		No	ClinGen gnomAD
CA379163348 rs1564843961	97	E>*		No	ClinGen Ensembl
CA379163335 rs1309468533	98	T>I		No	ClinGen TOPMed gnomAD
rs1564843950 CA379163332	99	L>F		No	ClinGen Ensembl
CA379163309 rs1467044177	101	A>T		No	ClinGen gnomAD
rs200060869 CA5825561	101	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1315824090 CA379163294	103	K>*		No	ClinGen gnomAD
CA379163288 rs1281696038	104	E>K		No	ClinGen gnomAD
rs755737034 CA5825559	106	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA216421320 rs973797705	107	R>Q		No	ClinGen TOPMed gnomAD
CA5825558 rs750069385	107	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1312019862 CA379163252	109	E>*		No	ClinGen TOPMed
CA5825557 rs767303407	109	E>G		No	ClinGen ExAC gnomAD
CA379163247 rs1369342733	110	K>Q		No	ClinGen gnomAD
TCGA novel	110	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	111	K>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379163235 rs1323154221	111	K>R		No	ClinGen gnomAD
rs1457825257 CA379163229	112	R>C		No	ClinGen gnomAD
CA379163228 rs1344753896	112	R>H		No	ClinGen TOPMed gnomAD
CA5825555 rs139332352	113	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs147898265 CA5825554	115	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1249746313 CA379163189	119	S>C		No	ClinGen gnomAD
CA379163188 rs1189217695	119	S>N		No	ClinGen gnomAD
rs769784989 CA5825551	120	A>T		No	ClinGen ExAC TOPMed gnomAD
CA216421282 rs1030599630	120	A>V		No	ClinGen TOPMed gnomAD
CA379163169 rs1312373084	122	T>I		No	ClinGen gnomAD
CA5825550 rs528336657	123	D>E		No	ClinGen ExAC TOPMed gnomAD
CA379163155 rs1590681909	125	S>G		No	ClinGen Ensembl
rs1361333777 CA379163145	126	V>A		No	ClinGen gnomAD
rs377626825 CA5825546	126	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs377626825 CA5825547	126	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs778245964 CA5825545	127	V>D		No	ClinGen ExAC gnomAD
CA379163143 rs1287141205	127	V>F		No	ClinGen gnomAD
CA379163132 rs1432612833	128	I>M		No	ClinGen TOPMed gnomAD
CA379163134 rs1173261173	128	I>T		No	ClinGen gnomAD
rs1391828466 CA379163116	131	D>N		No	ClinGen TOPMed gnomAD
CA379163111 rs1169121412	131	D>V		No	ClinGen gnomAD
rs748671232 CA5825543	133	L>R		No	ClinGen ExAC gnomAD
CA379163075 rs1393668369	135	I>V		No	ClinGen gnomAD
CA216420056 rs367627982	136	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA gnomAD
CA379163067 rs1412170930	136	R>H		No	ClinGen gnomAD
CA5825514 rs140729160	137	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5825512 rs766495993	138	T>A		No	ClinGen ExAC TOPMed gnomAD
CA379163039 rs1273117542	141	S>C		No	ClinGen TOPMed gnomAD
rs1211834706 CA379163038	141	S>N		No	ClinGen TOPMed gnomAD
CA5825508 rs762218026	142	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	142	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772394968 CA5825509	142	W>G		No	ClinGen ExAC gnomAD
CA379163032 rs772394968	142	W>R		No	ClinGen ExAC gnomAD
CA379163024 rs1333743718	143	T>S		No	ClinGen gnomAD
rs1040235267 CA216420001	147	C>Y		No	ClinGen TOPMed
CA5825506 rs749809521	148	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5825505 rs749809521	148	V>M		No	ClinGen ExAC TOPMed gnomAD
CA379162982 rs1480914832	149	L>P		No	ClinGen TOPMed
TCGA novel	151	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5825503 rs770592377	151	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA379162969 rs770592377	151	P>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	151	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1564842677 CA379162965	152	G>E		No	ClinGen Ensembl
rs777617011 CA5825501	152	G>R		No	ClinGen ExAC gnomAD
CA216419960 rs142011119	153	V>A		No	ClinGen ESP TOPMed gnomAD
TCGA novel	153	V>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5825500 rs567881413	153	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA379162951 rs1451118261	155	L>F		No	ClinGen gnomAD
CA5825498 rs778772139	159	T>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	160	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5825495 rs374835978	160	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5825492 rs767788863	161	K>N		No	ClinGen ExAC gnomAD
rs750625520 CA5825493	161	K>R		No	ClinGen ExAC TOPMed gnomAD
CA5825491 rs762164658	162	V>L		No	ClinGen ExAC gnomAD
CA216419923 rs1024079623	164	Q>H		No	ClinGen Ensembl
rs1346948695 CA379162872	167	G>A		No	ClinGen gnomAD
rs764538943 CA5825489	167	G>C		No	ClinGen ExAC TOPMed gnomAD
rs372071423 CA5825488	168	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs34183743 CA5825483	175	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs34183743 CA5825484	175	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5825481 rs778526206	178	E>*		No	ClinGen ExAC TOPMed gnomAD
rs778526206 CA5825482	178	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1394898068 CA379162798	179	R>Q		No	ClinGen TOPMed gnomAD
CA379162794 rs1590678723	180	P>S		No	ClinGen Ensembl
CA5825480 rs754834078	181	S>F		No	ClinGen ExAC gnomAD
CA379162784 rs749150881	182	K>E		No	ClinGen ExAC TOPMed gnomAD
CA5825479 rs749150881	182	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs887771448 CA216419819	182	K>R		No	ClinGen Ensembl
CA216419811 rs1047746041	184	D>A		No	ClinGen Ensembl
rs756176554 CA5825477	185	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1564842546 CA379162739	188	F>Y		No	ClinGen Ensembl
CA216419796 rs1027362630	193	P>L		No	ClinGen TOPMed gnomAD
rs900262041 CA216419789	194	L>M		No	ClinGen TOPMed
CA379162690 rs1339923262	195	D>G		No	ClinGen gnomAD
CA379162672 rs141603706	198	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5825474 rs141603706	198	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5825473 rs751836335	201	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	206	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs953369507 CA216414449	208	S>N		No	ClinGen Ensembl
rs539611416 CA5825441	209	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs539611416 CA5825440	209	V>M	Variant assessed as Somatic; 4.779e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1484394837 CA379162584	210	G>S		No	ClinGen TOPMed
rs1407571915 CA379162566	212	I>M		No	ClinGen gnomAD
rs745771474 CA5825439	213	T>I		No	ClinGen ExAC gnomAD
rs1000451056 CA216414430	220	Y>H		No	ClinGen gnomAD
CA379162498 rs1429607641	223	F>I		No	ClinGen TOPMed
rs79747973 CA216414407	224	R>K		No	ClinGen ExAC gnomAD
rs79747973 CA5825437	224	R>M		No	ClinGen ExAC gnomAD
rs747176946 CA5825436	225	A>S		No	ClinGen ExAC
CA5825435 rs777719897	225	A>V		No	ClinGen ExAC TOPMed gnomAD
rs371437453 CA5825433	226	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1238419038 CA379162477	227	S>T		No	ClinGen gnomAD
rs1437124392 CA379162470	228	E>A		No	ClinGen TOPMed
rs201316965 CA5825430	228	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1295353572 CA379162463	229	S>A		No	ClinGen TOPMed
rs766968103 CA5825429	230	D>G		No	ClinGen ExAC gnomAD
rs761229054 CA5825428	231	G>R		No	ClinGen ExAC gnomAD
rs773064863 CA5825400	232	R>C		No	ClinGen ExAC gnomAD
rs150076578 CA5825399	232	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1205876885 CA379162417	234	W>C		No	ClinGen gnomAD
CA379162400 rs1235248867	237	A>T		No	ClinGen gnomAD
CA379162396 rs1356261314	237	A>V		No	ClinGen gnomAD
CA5825395 rs376277544	241	A>V		No	ClinGen ESP ExAC gnomAD
rs780419350 CA5825394	243	R>C		No	ClinGen ExAC gnomAD
rs373421505 CA5825393	243	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780419350 CA379162367	243	R>S		No	ClinGen ExAC gnomAD
rs968774458 CA216403740	245	S>C		No	ClinGen Ensembl
CA5825392 rs746361052	246	S>G		No	ClinGen ExAC TOPMed gnomAD
CA379162334 rs1185433901	248	L>R		No	ClinGen gnomAD
rs148060072 CA5825389	249	R>S		No	ClinGen ESP ExAC TOPMed
CA216403731 rs943122218	250	L>V		No	ClinGen TOPMed
rs754576662 CA5825387	251	G>C		No	ClinGen ExAC TOPMed gnomAD
rs754576662 CA216403711	251	G>S		No	ClinGen ExAC TOPMed gnomAD
CA5825386 rs374656353	252	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA379162316 rs374656353	252	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA379162310 rs1356821269	253	C>*		No	ClinGen TOPMed
CA5825384 rs200769745	253	C>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5825383 rs200769745	253	C>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5825381 rs147555918	255	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5825382 rs147555918	255	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1215573196 CA379162300	255	P>S		No	ClinGen gnomAD
rs371411050 CA5825379	257	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA379162281 rs1465092965	258	D>V		No	ClinGen Ensembl
CA5825377 rs533182190	259	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775617842 CA5825376	260	E>K		No	ClinGen ExAC gnomAD
CA5825375 rs770178627	260	E>V		No	ClinGen ExAC gnomAD
rs1327914472 CA379162267	261	P>T		No	ClinGen gnomAD
rs746282367 CA5825374	263	T>I		No	ClinGen ExAC TOPMed gnomAD
CA5825373 rs781620132	264	S>L		No	ClinGen ExAC TOPMed gnomAD
rs747536667 CA5825371	265	P>S		No	ClinGen ExAC gnomAD
CA5825370 rs778354267	266	D>G		No	ClinGen ExAC gnomAD
CA5825368 rs375218160	267	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA379162233 rs375218160	267	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA379162229 rs1490050628	267	A>V		No	ClinGen gnomAD
CA379162213 rs1196101948	270	S>L		No	ClinGen gnomAD
CA379162215 rs1590659226	270	S>P		No	ClinGen Ensembl
CA5825365 rs372197696	271	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA5825366 rs372197696 COSM178584	271	S>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA216403492 rs1004763512	272	L>P		No	ClinGen TOPMed gnomAD
CA379162197 rs1261545649	273	C>S		No	ClinGen gnomAD
CA379162165 COSM428898 rs1351315188	278	S>L	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA379162149 rs1564834256	281	V>A		No	ClinGen Ensembl
CA5825362 rs540833216	281	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs898876993 CA216403451	282	H>L		No	ClinGen TOPMed gnomAD
rs898876993 CA379162143	282	H>R		No	ClinGen TOPMed gnomAD
rs1304408156 CA379162131	284	D>A		No	ClinGen TOPMed
rs1385152966 CA379162114	286	D>G		No	ClinGen gnomAD
CA379162098 rs1419452185	288	F>L		No	ClinGen gnomAD
CA5825361 rs748857352	289	P>L		No	ClinGen ExAC TOPMed gnomAD
CA216402954 rs776878132	291	N>K		No	ClinGen ExAC TOPMed gnomAD
CA5825335 rs761084899	292	G>A		No	ClinGen ExAC gnomAD
CA5825336 rs200925008	292	G>R		No	ClinGen ExAC TOPMed gnomAD
CA379162060 rs1243579320	293	S>C		No	ClinGen TOPMed
rs200124336 CA5825333	294	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1420275013 CA379162047	296	E>Q		No	ClinGen gnomAD
rs779385596 CA5825331	297	N>S		No	ClinGen ExAC gnomAD
CA216402884 rs745480803	298	D>H		No	ClinGen ExAC TOPMed gnomAD
rs745480803 CA5825329	298	D>N		No	ClinGen ExAC TOPMed gnomAD
rs147815943 CA5825328	299	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA379162023 rs1414354474	299	A>V		No	ClinGen TOPMed
CA5825327 rs757110476	301	S>L		No	ClinGen ExAC gnomAD
CA5825326 rs200695317	304	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1273395548 CA379161959	308	N>K		No	ClinGen gnomAD
rs1336398965 CA379161961	308	N>S		No	ClinGen gnomAD
rs1210941900 CA379161963	308	N>Y		No	ClinGen Ensembl
CA5825324 rs758216838	309	P>H		No	ClinGen ExAC gnomAD
CA379161952 rs1353844090	310	E>K		No	ClinGen gnomAD
CA379161951 rs1353844090	310	E>Q		No	ClinGen gnomAD
CA379161935 rs1590658182	312	S>A		No	ClinGen Ensembl
rs373907092 CA5825322	314	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs760892613 CA5825318	315	E>A		No	ClinGen ExAC gnomAD
rs773509897 CA379161913	315	E>D		No	ClinGen ExAC gnomAD
CA5825319 rs373156305	315	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs142383880 CA5825316	316	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA216402822 rs377009308	317	Q>*		No	ClinGen ESP ExAC gnomAD
CA5825315 rs377009308	317	Q>K		No	ClinGen ESP ExAC gnomAD
CA5825314 rs774964850	317	Q>R		No	ClinGen ExAC gnomAD
rs769168642 CA5825313	318	D>A		No	ClinGen ExAC gnomAD
rs745432220 CA5825312	319	H>P		No	ClinGen ExAC TOPMed gnomAD
rs890832368 CA216402787	320	S>R		No	ClinGen Ensembl
rs374028974 CA5825311	321	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA379161879 rs1469403485	321	R>W		No	ClinGen TOPMed gnomAD
CA5825310 rs770645345	323	T>M		No	ClinGen ExAC TOPMed gnomAD
CA5825308 rs777387631	325	S>N		No	ClinGen ExAC TOPMed gnomAD
rs147670205 CA5825307	326	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	327	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1351932787 CA379161835	328	D>N		No	ClinGen TOPMed gnomAD
rs1351932787 CA379161833	328	D>Y		No	ClinGen TOPMed gnomAD
rs1309131185 CA379161823	329	Q>R		No	ClinGen gnomAD
CA5825306 rs748011465	332	T>P		No	ClinGen ExAC gnomAD
rs570493262 CA5825305	333	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs755007599 CA5825304	334	G>R		No	ClinGen ExAC gnomAD
CA5825303 rs753849600	335	A>S		No	ClinGen ExAC gnomAD
rs558352799 CA5825302	335	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA379161785 rs1359722068	336	P>A		No	ClinGen TOPMed gnomAD
CA5825300 rs373988366	336	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA379161783 rs373988366	336	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1359722068 CA379161784	336	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1190060469 CA379161779	337	V>A		No	ClinGen gnomAD
rs374923847 CA5825298	337	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000880666 rs77195727 CA5825295	338	R>P		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5825296 rs77195727	338	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5825297 rs139424841	338	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1488808156 CA379161770	339	R>I		No	ClinGen gnomAD
rs1280855950 CA379161766	340	G>R		No	ClinGen TOPMed
CA379161756 rs1326909457	341	T>I		No	ClinGen TOPMed
rs1273528965 CA379161754	342	T>A		No	ClinGen TOPMed
CA379161741 rs1336718677	344	V>M		No	ClinGen TOPMed
rs1285708503 CA379161728	345	E>D		No	ClinGen TOPMed gnomAD
CA379161702 rs1350610078	349	E>A		No	ClinGen gnomAD
CA5825293 rs770593996	350	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1304883400 CA379161697	350	E>K		No	ClinGen gnomAD
rs111469886 CA216402655	351	L>P		No	ClinGen Ensembl
rs1469088793 CA379161673	353	E>D		No	ClinGen gnomAD
rs780018459 CA5825268	354	L>V		No	ClinGen ExAC gnomAD
rs146107856 CA5825266	356	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5825265 rs200925187	357	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5825264 rs200925187	357	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA216399508 rs548985610	358	S>P		No	ClinGen 1000Genomes gnomAD
rs778249269 CA5825262	359	Q>R		No	ClinGen ExAC gnomAD
CA5825261 rs758881917	360	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1256360881 CA379161617	361	E>D		No	ClinGen gnomAD
CA5825259 rs765910962	363	V>A		No	ClinGen ExAC gnomAD
rs201450347 CA5825260	363	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1311696259 CA379161603	364	S>L		No	ClinGen gnomAD
CA5825258 rs760123427	371	M>I		No	ClinGen ExAC gnomAD
CA379161539 rs1445365640	372	W>C		No	ClinGen gnomAD
CA5825257 rs749891136	373	T>A		No	ClinGen ExAC gnomAD
CA379161508 rs1399965313	377	Q>H		No	ClinGen TOPMed
rs566594934 CA5825255	378	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs566594934 CA5825256	378	L>Q		No	ClinGen 1000Genomes ExAC gnomAD
COSM926308 CA5825254 rs141647338	379	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
CA379161491 rs1347754672	381	G>D		No	ClinGen TOPMed
rs745812502 CA5825249	382	M>I		No	ClinGen ExAC TOPMed gnomAD
CA5825252 rs775406226	382	M>L		No	ClinGen ExAC TOPMed gnomAD
CA5825250 rs551479242	382	M>T		No	ClinGen 1000Genomes ExAC gnomAD
CA5825251 rs775406226	382	M>V		No	ClinGen ExAC TOPMed gnomAD
CA5825248 rs776727959	383	D>E		No	ClinGen ExAC gnomAD
rs1215668463 CA379161467	385	S>C		No	ClinGen TOPMed gnomAD
CA379161468 rs1215668463	385	S>Y		No	ClinGen TOPMed gnomAD
CA5825247 rs368931302	386	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5825246 rs747230033	386	R>H		No	ClinGen ExAC TOPMed gnomAD
CA5825243 rs748457490	387	V>M		No	ClinGen ExAC gnomAD
CA379161451 rs1590653276	388	V>G		No	ClinGen Ensembl
CA5825240 rs754334089	391	T>A		No	ClinGen ExAC gnomAD
CA5825238 rs756769893	391	T>M		No	ClinGen ExAC TOPMed gnomAD
CA5825239 rs756769893	391	T>R		No	ClinGen ExAC TOPMed gnomAD
rs763806853 CA216399232	392	F>L		No	ClinGen ExAC TOPMed gnomAD
rs751212682 CA5825237	392	F>L		No	ClinGen ExAC gnomAD
rs573910214 CA216399231	393	V>I		No	ClinGen ExAC TOPMed gnomAD
CA5825235 rs573910214 CA216399224	393	V>L		No	ClinGen ExAC TOPMed gnomAD
rs775213446 CA379161427	394	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1396704997 CA379161426	394	L>P		No	ClinGen TOPMed
CA5825234 rs775213446	394	L>V		No	ClinGen ExAC TOPMed gnomAD
rs765043900 CA5825233 COSM673804	395	E>G	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5825232 rs372029383	397	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5825231 rs776479428	397	R>L		No	ClinGen ExAC gnomAD
CA379161383 rs1266906348	401	N>S		No	ClinGen gnomAD
CA379161375 rs1208339299	402	K>R		No	ClinGen gnomAD
rs1486986738 CA379161369	403	L>F		No	ClinGen gnomAD
CA5825226 rs143909358	405	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs143909358 CA5825227	405	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs755340635 CA5825224	407	Y>C		No	ClinGen ExAC gnomAD
CA379161332 rs1330040345	408	Y>*		No	ClinGen gnomAD
rs1383506074 CA379161326	409	H>R		No	ClinGen gnomAD
rs780486148 CA5825221	410	A>T	Variant assessed as Somatic; 0.0001398 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1590653060 CA379161314	411	D>G		No	ClinGen Ensembl
CA5825218 rs763611478	414	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	416	A>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379160835 rs1356136608	417	A>G		No	ClinGen TOPMed gnomAD
rs781704899 CA5825183	417	A>P		No	ClinGen ExAC gnomAD
CA379160834 rs1356136608	417	A>V		No	ClinGen TOPMed gnomAD
rs778498184 CA5825181	418	V>A		No	ClinGen ExAC TOPMed gnomAD
CA5825180 rs778498184	418	V>G		No	ClinGen ExAC TOPMed gnomAD
CA379160830 rs1242884717	418	V>L		No	ClinGen gnomAD
rs1475257056 CA379160810	421	D>Y		No	ClinGen gnomAD
rs958489561 CA216394549	424	S>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs552915237 CA5825178	424	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs867268261 CA216394542	425	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA379160780 rs867268261	425	R>L		No	ClinGen gnomAD
rs1201223222 CA379160768	427	K>E		No	ClinGen gnomAD
CA216394539 rs891431344	428	L>P		No	ClinGen Ensembl
CA5825177 rs371333317	428	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs756022679 CA379160757	429	V>L		No	ClinGen ExAC TOPMed gnomAD
rs756022679 CA5825176	429	V>M		No	ClinGen ExAC TOPMed gnomAD
rs367840281 CA5825175	431	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1056810554 CA216394527	431	R>W		No	ClinGen TOPMed
rs757155665 CA216394507	432	W>*		No	ClinGen Ensembl
CA216394511 rs78796735	432	W>G		No	ClinGen Ensembl
rs1176223812 CA379160727	434	L>P		No	ClinGen gnomAD
CA379160722 rs1478765629	435	S>C		No	ClinGen gnomAD
CA379160709 rs1246891400	437	F>S		No	ClinGen gnomAD
CA379160681 rs1289992085	441	P>S		No	ClinGen gnomAD
rs1486104552 CA379160653	443	G>E		No	ClinGen TOPMed
rs1339645215 CA379160655 CA379160656	443	G>R		No	ClinGen gnomAD
CA216393531 rs1029601094	445	K>E		No	ClinGen gnomAD
CA216393529 rs996677989	445	K>N		No	ClinGen Ensembl
rs1450076777 CA379160630	446	K>N		No	ClinGen TOPMed gnomAD
rs1472550139 CA379160628	447	P>A		No	ClinGen TOPMed
COSM2114290 CA216393525 rs138106160	447	P>L	pancreas [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
CA379160629 rs1472550139	447	P>T		No	ClinGen TOPMed
rs1590647289 CA379160613	449	N>T		No	ClinGen Ensembl
TCGA novel	450	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5825146 rs759766388	450	P>T		No	ClinGen ExAC gnomAD
CA5825144 rs761055362	452	L>P		No	ClinGen ExAC gnomAD
CA5825143 rs761055362	452	L>R		No	ClinGen ExAC gnomAD
rs1423306876 CA379160581	454	E>D		No	ClinGen gnomAD
TCGA novel	454	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1590647252 CA379160577	455	T>P		No	ClinGen Ensembl
CA379160571 rs1185145063	456	F>V		No	ClinGen gnomAD
rs564578145 CA216393475	457	R>C		No	ClinGen gnomAD
rs1238613686 CA379160554	458	C>*		No	ClinGen gnomAD
rs1209497079 CA379160546	459	C>W		No	ClinGen TOPMed gnomAD
rs768039988 CA5825141	460	W>C		No	ClinGen ExAC TOPMed gnomAD
CA5825142 rs773818269	460	W>L		No	ClinGen ExAC TOPMed gnomAD
rs1168316480 CA379160543	460	W>R		No	ClinGen TOPMed
CA379160526 rs1590647183	462	H>P		No	ClinGen Ensembl
rs1053543544 CA216393443	463	P>L		No	ClinGen TOPMed gnomAD
CA379160518 rs1053543544	463	P>R		No	ClinGen TOPMed gnomAD
rs1337405123 CA379160510	464	Q>H		No	ClinGen TOPMed
rs1293095949 CA379160500	466	D>Y		No	ClinGen gnomAD
rs907431268 COSM1353425 CA216393439	468	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA5825139 rs775147478	468	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA379160483 rs775147478	468	R>L		No	ClinGen ExAC TOPMed gnomAD
CA379160485 rs907431268	468	R>S		No	ClinGen gnomAD
CA216393432 rs529670039	469	T>K		No	ClinGen 1000Genomes gnomAD
rs559230262 CA5825138	470	F>L		No	ClinGen 1000Genomes ExAC gnomAD
CA379160469 rs1590647087	471	Y>H		No	ClinGen Ensembl
CA5825137 rs370202573	472	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA379160440 rs1331478028	475	Q>*		No	ClinGen gnomAD
CA5825108 rs755002878	477	S>F		No	ClinGen ExAC TOPMed gnomAD
CA379160407 rs1590646031	478	H>P		No	ClinGen Ensembl
rs1590646011 CA379160400	479	H>P		No	ClinGen Ensembl
CA5825105 rs756284238	479	H>Y		No	ClinGen ExAC gnomAD
rs750856165 CA5825104	480	P>L		No	ClinGen ExAC gnomAD
rs750856165 CA379160393	480	P>Q		No	ClinGen ExAC gnomAD
CA379160392 rs750856165	480	P>R		No	ClinGen ExAC gnomAD
CA216392626 rs1024366107	480	P>T		No	ClinGen gnomAD
CA5825101 rs374481137	482	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs370324105 CA5825099	487	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA379160342 rs1488075664	488	S>N		No	ClinGen TOPMed
CA5825098 rs547003210	490	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1284173268 COSM3782612 CA379160330	490	R>W	Variant assessed as Somatic; impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs773101925 CA5825095	493	G>S		No	ClinGen ExAC gnomAD
rs1156983924 CA379160289	496	I>V		No	ClinGen TOPMed
CA379160278 rs1411355861	497	S>I		No	ClinGen TOPMed
rs748106984 CA5825093	499	S>G		No	ClinGen ExAC gnomAD
rs1470498389 CA379160251	501	T>R		No	ClinGen gnomAD
rs778764948 CA5825092	503	K>Q		No	ClinGen ExAC gnomAD
rs1311239238 CA379160226	505	R>M		No	ClinGen gnomAD
CA5825090 rs749436104	506	F>L		No	ClinGen ExAC gnomAD
rs1342831788 CA379160211	507	Y>F		No	ClinGen gnomAD
CA216391191 rs1043182688	508	G>E		No	ClinGen TOPMed gnomAD
rs1423198071 CA379159834	509	N>D		No	ClinGen gnomAD
CA379159824 rs1199997778	509	N>K		No	ClinGen gnomAD
CA379159828 rs1240683983	509	N>S		No	ClinGen gnomAD
CA379159810 rs1317705761	510	S>L		No	ClinGen TOPMed gnomAD
rs1453000963 CA379159785	512	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
COSM178582 rs867947158 CA216391135	513	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
COSM50351 rs753106579 CA5825062	513	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs767142123 CA216391106	517	G>C		No	ClinGen ExAC TOPMed gnomAD
rs767142123 CA5825058	517	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5825057 rs761440221	520	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1328486573 CA379159641	522	T>I		No	ClinGen gnomAD
rs1590643423 CA379159654	522	T>P		No	ClinGen Ensembl
CA379159635 rs1335119657	523	F>L		No	ClinGen gnomAD
rs774179612 CA5825056	524	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1219779934 CA379159590	526	R>*		No	ClinGen TOPMed
rs142478721 CA5825054	526	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5825053 rs142478721	526	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769927140 CA5825052	527	A>S		No	ClinGen ExAC TOPMed gnomAD
rs769927140 CA379159583	527	A>T		No	ClinGen ExAC TOPMed gnomAD
rs776762523 CA5825050	528	E>D		No	ClinGen ExAC gnomAD
CA216391042 rs889761387	528	E>G		No	ClinGen Ensembl
rs771331825 CA5825049	529	D>N		No	ClinGen ExAC gnomAD
rs747204940 CA5825048	531	T>A		No	ClinGen ExAC gnomAD
rs747204940 CA379159515	531	T>S		No	ClinGen ExAC gnomAD
rs1158549759 CA379159503	532	L>F		No	ClinGen gnomAD
rs569160467 CA216391008	534	M>I		No	ClinGen 1000Genomes
rs1247830102 CA379159480	534	M>V		No	ClinGen TOPMed
rs1000898046 CA216391003	536	Y>C		No	ClinGen Ensembl
CA5825045 rs748703420	537	A>D		No	ClinGen ExAC gnomAD
rs772518031 CA5825046	537	A>T		No	ClinGen ExAC TOPMed gnomAD
rs777337608 CA5825019	541	G>E		No	ClinGen ExAC gnomAD
CA5825017 rs752487618	542	I>M		No	ClinGen ExAC gnomAD
CA5825018 rs758059874	542	I>T		No	ClinGen ExAC gnomAD
CA5825016 rs371388130	544	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5825015 rs151056884	546	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA5825012 rs557617967	550	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs772479316 CA5825010	552	G>D		No	ClinGen ExAC gnomAD
CA379158008 rs1335535531	552	G>R		No	ClinGen gnomAD
rs772479316 CA379158005	552	G>V		No	ClinGen ExAC gnomAD
CA379158002 rs1564822679	553	G>W		No	ClinGen Ensembl
rs536080242 CA379157972	557	I>M		No	ClinGen ExAC gnomAD
CA379157968 rs1369750760	558	E>A		No	ClinGen Ensembl
CA5825008 rs774617578	558	E>K		No	ClinGen ExAC gnomAD
CA5825007 rs749778631	560	A>E		No	ClinGen ExAC gnomAD
rs921245505 CA216386580	560	A>T		No	ClinGen TOPMed gnomAD
CA5825006 rs749778631	560	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5825004 rs770427335	564	F>L		No	ClinGen ExAC gnomAD
rs142826348 CA216386557	566	A>T		No	ClinGen ESP
CA379157906 rs1435911161	567	Q>R		No	ClinGen TOPMed
CA379157893 rs1227142979	569	E>A		No	ClinGen TOPMed
CA216386541 rs894637866	569	E>K		No	ClinGen TOPMed gnomAD
rs894637866 CA379157896	569	E>Q		No	ClinGen TOPMed gnomAD
CA5825003 rs746584551	571	K>R		No	ClinGen ExAC TOPMed gnomAD
CA379157872 rs1460137811	572	L>F		No	ClinGen gnomAD
rs1204922124 CA379157863	573	K>R		No	ClinGen gnomAD
rs757301069 CA5824975	575	F>C		No	ClinGen ExAC gnomAD
CA5824976 rs767514582	575	F>I		No	ClinGen ExAC TOPMed gnomAD
rs775876459 CA5824971	577	G>E		No	ClinGen ExAC gnomAD
CA5824972 rs763145712	577	G>R		No	ClinGen ExAC TOPMed gnomAD
CA5824973 rs763145712	577	G>W		No	ClinGen ExAC TOPMed gnomAD
CA379157825 rs1301349954	578	G>C		No	ClinGen Ensembl
CA5824970 rs765550978	578	G>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	578	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760060935 CA5824969	579	S>G		No	ClinGen ExAC gnomAD
CA379157810 rs1237770123	580	T>N		No	ClinGen gnomAD
CA379157804 rs1590632838	581	S>N		No	ClinGen Ensembl
rs1043795419 CA216386104	583	N>D		No	ClinGen Ensembl
rs761453399 CA5824966	583	N>S		No	ClinGen ExAC gnomAD
CA379157778 rs1346493558	585	I>L		No	ClinGen gnomAD
rs1260891585 CA379157772	585	I>M		No	ClinGen Ensembl
CA5824965 rs773721471	586	S>A		No	ClinGen ExAC gnomAD
rs768403377 CA5824964	586	S>L		No	ClinGen ExAC TOPMed gnomAD
rs981633669 CA216386082	588	K>E		No	ClinGen TOPMed
rs370968162 CA5824962	588	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs576108739 CA5824961	590	T>M		No	ClinGen ExAC TOPMed gnomAD
rs755371968 CA5824959	591	S>L	Variant assessed as Somatic; 0.001038 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1178442548 CA379157742	591	S>P		No	ClinGen TOPMed gnomAD
CA5824957 rs751715668	593	E>A		No	ClinGen ExAC TOPMed gnomAD
CA379157732 rs1197029862	593	E>K		No	ClinGen gnomAD
CA379157724 rs1159474388	594	E>Q		No	ClinGen TOPMed
TCGA novel	596	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5824955 rs140160487	597	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA5824954 rs140160487	597	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5824952 rs759830357	598	S>T		No	ClinGen ExAC gnomAD
CA379157689 rs1350456833	600	S>G		No	ClinGen TOPMed
CA379157686 rs969553433	600	S>N		No	ClinGen gnomAD
rs969553433 CA216386033	600	S>T		No	ClinGen gnomAD
rs766968163 CA5824950	602	H>R		No	ClinGen ExAC
CA379157637 rs1443524635	605	R>K		No	ClinGen gnomAD
CA5824919 rs146135257	605	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs771994577 CA5824920	605	R>W		No	ClinGen ExAC TOPMed gnomAD
rs778943099 CA5824918	606	D>N		No	ClinGen ExAC TOPMed gnomAD
rs778943099 CA379157634	606	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA5824916 rs780486840	607	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5824915 rs780486840	607	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1590632435 CA379157622	608	F>V		No	ClinGen Ensembl
rs1181603887 CA379157603	610	K>N		No	ClinGen TOPMed
rs756375919 CA5824914	612	E>K		No	ClinGen ExAC gnomAD
rs750944029 CA5824913	613	G>R		No	ClinGen ExAC gnomAD
CA5824912 rs768202474	614	S>N		No	ClinGen ExAC gnomAD
CA5824910 rs752302699	614	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1444554435 CA379157573	615	G>E		No	ClinGen gnomAD
CA5824909 COSM1734192 rs764806036	615	G>R	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs776092129 CA216385858	618	A>E		No	ClinGen ExAC TOPMed gnomAD
rs1327929633 CA379157554	618	A>T		No	ClinGen gnomAD
rs776092129 CA5824907	618	A>V		No	ClinGen ExAC TOPMed gnomAD
rs760457132 CA379157549	619	L>F		No	ClinGen ExAC TOPMed gnomAD
rs760457132 CA5824905	619	L>V		No	ClinGen ExAC TOPMed gnomAD
CA216385842 rs962092429	621	W>G		No	ClinGen Ensembl
CA5824904 rs772979791	622	T>I		No	ClinGen ExAC gnomAD
rs748047938 CA5824902	623	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs772048119 CA5824903	623	P>S		No	ClinGen ExAC gnomAD
rs1362930204 CA379157520	624	S>G		No	ClinGen gnomAD
rs539942067 CA379157513	624	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5824898 rs199782698	625	G>R		No	ClinGen ExAC TOPMed gnomAD
CA216385774 rs866421233	626	E>K		No	ClinGen Ensembl
rs1271517604 CA379157496	627	V>A		No	ClinGen TOPMed gnomAD
rs1271517604 CA379157495	627	V>G		No	ClinGen TOPMed gnomAD
CA5824897 rs756351120	628	R>C		No	ClinGen ExAC gnomAD
CA5824896 rs139881025	628	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs139881025 CA379157491	628	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA379157494 rs756351120	628	R>S		No	ClinGen ExAC gnomAD
CA379157490 rs1289615353	629	R>G		No	ClinGen TOPMed gnomAD
CA5824895 rs375468420	630	Q>H		No	ClinGen ESP ExAC gnomAD
rs757876745 CA5824894	631	R>G		No	ClinGen ExAC gnomAD
CA5824893 rs752067625	632	L>P		No	ClinGen ExAC gnomAD
CA5824891 rs754383227	633	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1347110156 CA379157465	633	R>K		No	ClinGen TOPMed gnomAD
CA216385732 rs1021408824	636	T>A		No	ClinGen Ensembl
rs776822713 CA216385729	636	T>M		No	ClinGen TOPMed
CA379157436 rs1393109677	637	V>A		No	ClinGen gnomAD
CA379157435 rs1393109677	637	V>G		No	ClinGen gnomAD
CA5824889 rs536033266	638	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5824887 rs750260206	639	L>Q		No	ClinGen ExAC gnomAD
CA5824886 rs767261460	640	E>V		No	ClinGen ExAC gnomAD
COSM926305 rs372329762 CA5824885	643	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs148408625 CA5824883	644	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374824031 CA5824880 COSM687548	648	E>*	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA5824878 rs374205061	648	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1383215363 CA379157369	648	E>G		No	ClinGen TOPMed
CA5824879 rs374824031	648	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374824031 CA379157371	648	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5824848 rs750078222	652	Q>L		No	ClinGen ExAC gnomAD
TCGA novel	653	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780888007 CA5824847	654	V>I		No	ClinGen ExAC TOPMed gnomAD
CA379157024 rs1446568831	657	A>T		No	ClinGen gnomAD
rs1243848175 CA379157009	658	I>V		No	ClinGen gnomAD
CA379156988 rs1183178832	659	S>G		No	ClinGen TOPMed gnomAD
CA379156991 rs1183178832	659	S>R		No	ClinGen TOPMed gnomAD
rs756889259 CA5824846	660	K>E		No	ClinGen ExAC gnomAD
rs1384663599 CA379156951	661	G>C		No	ClinGen TOPMed gnomAD
CA379156921 rs1306844309	662	D>E		No	ClinGen gnomAD
CA5824843 rs758296373	662	D>N		No	ClinGen ExAC gnomAD
rs1272440758 CA379156919	663	Q>K		No	ClinGen gnomAD
rs202060493 CA216385282	663	Q>R		No	ClinGen 1000Genomes
CA5824842 rs752628944	665	R>K		No	ClinGen ExAC gnomAD
rs759759875 CA5824841	665	R>S		No	ClinGen ExAC gnomAD
CA379156861 rs1313783444	666	A>V		No	ClinGen gnomAD
rs1226195786 CA379156842	667	T>I		No	ClinGen TOPMed gnomAD
rs1023727003 CA216385277	668	Q>E		No	ClinGen Ensembl
CA5824838 rs200214563	669	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA379156784 rs1354437542	670	K>N		No	ClinGen gnomAD
rs760948923 CA5824837	671	F>C		No	ClinGen ExAC TOPMed gnomAD
CA379156765 rs1427144874	672	A>T		No	ClinGen gnomAD
CA5824836 rs559146402	674	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA379156709 rs1163020622	675	E>G		No	ClinGen gnomAD
CA379156719 rs1285431175	675	E>K		No	ClinGen TOPMed
CA5824835 rs772435122	676	A>T		No	ClinGen ExAC TOPMed gnomAD
CA379156675 rs930734353	678	R>G		No	ClinGen TOPMed gnomAD
rs748614515 CA5824834	678	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA216385271 rs930734353	678	R>W		No	ClinGen TOPMed gnomAD
rs1224584242 CA379156660	679	Q>*		No	ClinGen gnomAD
rs35733103 CA5824832	680	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5824833 rs774854189	680	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA379156629 rs1590631182	681	A>D		No	ClinGen Ensembl
rs577101378 CA5824831	682	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5824830 rs138921217	682	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs138921217 CA5824829	682	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs375478360 CA379156583	684	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5824827 COSM1218926 rs375478360	684	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
COSM926304 CA5824828 rs746630605	684	R>W	Variant assessed as Somatic; 5.771e-05 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1158002740 CA379156549	686	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs752434080 CA5824825	686	E>G		No	ClinGen ExAC gnomAD
CA379156544 rs1446842180	687	S>R		No	ClinGen gnomAD
rs1244181983 CA379156518	688	L>F		No	ClinGen gnomAD
rs1407230793 CA379156515	688	L>P		No	ClinGen gnomAD
rs1305170275 CA379156508	689	M>K		No	ClinGen TOPMed
rs1302624840 CA379156511	689	M>L		No	ClinGen TOPMed gnomAD
rs1302624840 CA379156512	689	M>V		No	ClinGen TOPMed gnomAD
CA379156496 rs1456493117	690	P>S		No	ClinGen gnomAD
rs1590631086 CA379156480	691	W>G		No	ClinGen Ensembl
CA379156433 rs1418756849	693	P>L		No	ClinGen gnomAD
rs1160042835 CA379156442	693	P>T		No	ClinGen gnomAD
rs766527329 CA379156407	694	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs773427798 CA5824819	697	H>L		No	ClinGen ExAC gnomAD
CA379156360 rs773427798	697	H>P		No	ClinGen ExAC gnomAD
CA379156319 rs1486531371	700	P>T		No	ClinGen gnomAD
CA5824817 rs146057137	701	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA379156304 rs146057137	701	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1360601046 CA379156286	702	T>A		No	ClinGen TOPMed
rs777803242 CA5824816	702	T>I		No	ClinGen ExAC TOPMed gnomAD
CA379156223 rs1289105951	705	W>*		No	ClinGen TOPMed
rs1326656344 CA379156186	707	Y>H		No	ClinGen gnomAD
rs1450735617 CA379156169	708	R>*		No	ClinGen TOPMed
rs202210331 CA379156165	708	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs202210331 CA216385145	708	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5824815 rs202210331	708	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776146202 CA379156150 CA216385139	709	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA5824814 rs575700015	709	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5824812 rs770375927	710	E>K		No	ClinGen ExAC TOPMed gnomAD
CA5824799 rs767837222	712	H>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	713	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1460604110 CA379155978	714	P>H		No	ClinGen gnomAD
CA379155981 rs1183781025	714	P>S		No	ClinGen gnomAD
rs143610110 CA5824798	715	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA379155957 rs1199160356	715	W>C		No	ClinGen gnomAD
rs751956572 CA379155949	716	D>H		No	ClinGen ExAC gnomAD
rs751956572 CA216384926	716	D>N		No	ClinGen ExAC gnomAD
CA5824797 rs751956572	716	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1252453778 CA379155927	717	P>A		No	ClinGen gnomAD
CA379155922 rs1303375469	717	P>R		No	ClinGen TOPMed
rs1252453778 CA379155925	717	P>S		No	ClinGen gnomAD
rs764398770 CA5824796	720	D>E		No	ClinGen ExAC gnomAD
rs1246912113 CA379155848	722	A>T		No	ClinGen TOPMed gnomAD
rs1331943181 CA379155836	723	Q>E		No	ClinGen gnomAD
CA216384885 rs970319525	723	Q>R		No	ClinGen TOPMed
CA5824791 rs771801579	727	D>E		No	ClinGen ExAC TOPMed gnomAD
rs760292668 CA5824792	727	D>G		No	ClinGen ExAC gnomAD
CA5824789 rs138015375	728	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs138015375 CA216384877	728	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1446617132 CA379155722	729	I>F		No	ClinGen gnomAD
rs768514846 CA5824787	731	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs778874744 CA5824788	731	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA379155678 rs1261178904	732	T>P		No	ClinGen gnomAD
CA5824785 rs780205096	734	Q>E		No	ClinGen ExAC
rs1292734289 CA379155638	734	Q>R		No	ClinGen TOPMed
TCGA novel	735	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379155605 rs1185832055	736	E>K		No	ClinGen gnomAD
CA5824783 rs750564557	736	E>V		No	ClinGen ExAC gnomAD
CA5824782 rs781101351	737	A>T		No	ClinGen ExAC gnomAD
rs751727731 CA5824780	738	V>M		No	ClinGen ExAC TOPMed gnomAD
CA5824779 rs764453800	739	A>G		No	ClinGen ExAC
rs151250529 CA5824778	740	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs151250529 CA379155540	740	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5824777 rs374070869	740	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA379155529 rs374070869	740	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs151250529 CA379155538	740	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000889688 rs141858255 CA5824776	742	T>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5824774 rs772814832	743	T>I		No	ClinGen ExAC gnomAD
rs771435217 CA5824773	744	F>L		No	ClinGen ExAC TOPMed gnomAD
CA379155468 rs1295873900	744	F>S		No	ClinGen gnomAD
rs1011740489 CA216384791	746	G>R		No	ClinGen Ensembl
rs1009655528 CA216384783	747	S>C		No	ClinGen TOPMed
rs892721622 CA216384782	747	S>R		No	ClinGen TOPMed gnomAD
CA379155410 rs1564820754	748	P>A		No	ClinGen Ensembl
rs774082217 CA5824771	749	G>E		No	ClinGen ExAC TOPMed gnomAD
CA379155396 rs1404288375	749	G>R		No	ClinGen gnomAD
CA379155377 rs1316830400	750	P>S		No	ClinGen TOPMed
CA379155364 rs1159895201	751	R>G		No	ClinGen TOPMed gnomAD
rs371190248 CA5824770	751	R>T		No	ClinGen ESP ExAC gnomAD
CA379155340 rs1564820713	752	H>R		No	ClinGen Ensembl
rs749151635 CA5824769	752	H>Y		No	ClinGen ExAC gnomAD
CA5824766 rs374457287	753	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA5824767 rs374457287	753	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1316937480 CA379155264	756	G>D		No	ClinGen gnomAD
rs747142054 CA5824745	756	G>S		No	ClinGen ExAC gnomAD
CA379155252 rs146629770	758	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA5824744 rs146629770	758	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA379155244 rs1454276425	759	Q>R		No	ClinGen gnomAD
rs377167443 CA5824742	760	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5824743 rs758650757	760	R>W		No	ClinGen ExAC TOPMed gnomAD
rs779353532 CA5824741	762	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs755234496 CA5824740	762	R>H		No	ClinGen ExAC gnomAD
rs756665101 CA5824737	764	A>G		No	ClinGen ExAC gnomAD
rs766856150 CA5824738	764	A>T		No	ClinGen ExAC gnomAD
CA5824735 rs763652979	765	S>N		No	ClinGen ExAC gnomAD
rs774946959 CA5824733	765	S>R		No	ClinGen ExAC TOPMed gnomAD
rs765083686 CA5824732 COSM1475365	766	D>N	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA379155181 rs199552862	770	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs199552862 CA5824730	770	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5824729 rs770897103	772	S>R		No	ClinGen ExAC TOPMed gnomAD
CA216383396 rs943681773	773	Q>H		No	ClinGen TOPMed gnomAD
CA379155159 rs746909522	773	Q>P		No	ClinGen ExAC gnomAD
CA5824728 rs746909522	773	Q>R		No	ClinGen ExAC gnomAD
VAR_020414 rs2277301 CA5824727	774	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5824725 rs567473949	775	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5824721 rs537805677	779	G>R		No	ClinGen 1000Genomes ExAC TOPMed
CA379155110 rs1166852863	781	T>A		No	ClinGen gnomAD
CA5824717 rs201017802	781	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA216383334 rs967901396	783	E>K		No	ClinGen TOPMed
rs764853697 CA5824714	790	D>E		No	ClinGen ExAC TOPMed gnomAD
CA379155051 rs1471659961	790	D>Y		No	ClinGen gnomAD
rs75344555 CA5824712	791	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA216383313 rs868793937	794	D>E		No	ClinGen Ensembl
rs766113903 CA5824710	795	G>D		No	ClinGen ExAC TOPMed gnomAD
CA5824709 rs760619077	797	F>V		No	ClinGen ExAC gnomAD
rs1433534496 CA379154995	798	V>I		No	ClinGen TOPMed
rs959253772 CA216383285	799	P>A		No	ClinGen TOPMed gnomAD
TCGA novel	800	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758524305 CA379154965	801	G>C		No	ClinGen TOPMed gnomAD
CA216382885 rs758524305	801	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs775787988 CA5824681	802	E>D		No	ClinGen ExAC TOPMed gnomAD
rs763094116 CA5824682	802	E>K		No	ClinGen ExAC gnomAD
CA216382862 rs369984713	803	S>N		No	ClinGen ESP TOPMed gnomAD
rs770136127 CA216382853	804	P>L		No	ClinGen ExAC gnomAD
rs770136127 CA5824680	804	P>Q		No	ClinGen ExAC gnomAD
CA5824679 rs746291168	806	P>L		No	ClinGen ExAC gnomAD
rs1313357616 CA379154934	806	P>S		No	ClinGen gnomAD
rs149906470 CA5824677	807	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5824676 rs149906470	807	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM39539 rs377293459 CA5824678	807	R>W	large_intestine central_nervous_system [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA379154928 rs1590626489	808	C>G		No	ClinGen Ensembl
rs1337533902 CA379154925	808	C>Y		No	ClinGen TOPMed
CA379154919 rs1434690187	809	R>G		No	ClinGen gnomAD
CA379154916 rs1441970333	809	R>K		No	ClinGen gnomAD
CA379154897 rs1590626432	812	A>T		No	ClinGen Ensembl
rs767854463 CA5824673	812	A>V	Variant assessed as Somatic; 6.377e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs549339222 CA5824670	813	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA5824671 COSM1218923 rs755744640	813	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5824668 rs367895102	814	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs34527841 CA5824669	814	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	815	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA216382799 rs186532188	817	A>P		No	ClinGen Ensembl
rs1483848098 CA379154869 COSM1218927	817	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA379154857 CA216382796 rs573151125	819	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA5824665 rs371734500	820	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1353422 CA5824664 rs371734500	820	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs765603632 CA5824663	821	A>P		No	ClinGen ExAC
rs1227879264 CA379154837	823	L>F		No	ClinGen gnomAD
CA379154836 rs1227879264	823	L>V		No	ClinGen gnomAD
CA379154829 rs1314565730	824	S>C		No	ClinGen TOPMed gnomAD
rs1314565730 CA379154828	824	S>F		No	ClinGen TOPMed gnomAD
CA216382787 rs939960009	824	S>P		No	ClinGen TOPMed gnomAD
rs759794463 CA5824662	826	R>*		No	ClinGen ExAC TOPMed gnomAD
rs79341757 CA5824661	826	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA216382779 rs867677084	827	E>*		No	ClinGen Ensembl
rs1300967460 CA379154806	828	A>V		No	ClinGen gnomAD
CA5824659 rs747475942	829	Q>H		No	ClinGen ExAC gnomAD
CA5824658 rs773840428	830	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA216382772 rs865894715	831	E>D		No	ClinGen Ensembl
CA5824657 rs772448505	832	L>R		No	ClinGen ExAC gnomAD
rs1590624359 CA379154746	835	H>P		No	ClinGen Ensembl
rs1292119716 CA379154747	835	H>Y		No	ClinGen TOPMed gnomAD
rs765360153 CA5824646	836	L>V		No	ClinGen ExAC TOPMed gnomAD
rs759853425 CA5824645	837	S>L		No	ClinGen ExAC gnomAD
CA5824643 rs376075340	839	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5824642 rs376075340	839	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA379154707 rs1287595345	841	S>R		No	ClinGen gnomAD
CA5824641 rs371795866	843	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA5824640 rs541744828	843	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5824637 rs368266909	845	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs368266909 CA5824636	845	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs150730024 CA5824638 COSM466727	845	R>W	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs770476441 CA5824634	846	A>V		No	ClinGen ExAC gnomAD
rs746868098 CA379154679	847	A>E		No	ClinGen ExAC TOPMed gnomAD
rs746868098 CA5824633	847	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1367569469 CA379154669	849	A>T		No	ClinGen TOPMed
CA5824632 COSM3787043 rs546408517	850	P>L	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA379154660 rs546408517	850	P>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	853	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379154643 rs1345850913	853	G>D		No	ClinGen TOPMed
CA379154644 rs1378394135	853	G>S		No	ClinGen TOPMed gnomAD
CA5824630 rs752625917	854	L>F		No	ClinGen ExAC gnomAD
CA379154299 rs752625917	854	L>I		No	ClinGen ExAC gnomAD
CA5824628 rs755175973	856	Q>H		No	ClinGen ExAC gnomAD
rs1465149937 CA379154269	858	P>L		No	ClinGen gnomAD
rs766677689 CA5824626	859	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs766677689 COSM398670 CA379154268	859	R>G	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs760780682 CA5824625	859	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs886227910 CA216381822	861	W>C		No	ClinGen Ensembl
rs767817544 CA5824622	861	W>L		No	ClinGen ExAC TOPMed gnomAD
rs1231946858 CA379154249	862	F>Y		No	ClinGen gnomAD
CA5824619 rs769143190	864	L>I		No	ClinGen ExAC TOPMed gnomAD
CA5824618 rs759104300	865	C>S		No	ClinGen ExAC TOPMed gnomAD
rs550331772 CA5824617	866	V>L		No	ClinGen ExAC TOPMed gnomAD
rs550331772 CA5824616	866	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1478758581 CA379154214	868	L>V		No	ClinGen TOPMed
rs746601067 CA379154210	869	A>S		No	ClinGen ExAC TOPMed gnomAD
CA5824615 rs746601067	869	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5824614 rs777638746	869	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1161042281 CA379154201	870	C>F		No	ClinGen TOPMed
CA5824611 rs779052682	871	Q>E		No	ClinGen ExAC gnomAD
CA379154163 rs1386244787	876	H>N		No	ClinGen TOPMed
CA5824610 rs754947004	877	I>V		No	ClinGen ExAC gnomAD
rs796240042 CA216381768	879	K>E		No	ClinGen Ensembl
rs1465527722 CA379154141	879	K>R		No	ClinGen gnomAD

No associated diseases with Q9H0X9

2 regional properties for Q9H0X9

Type	Name	Position	InterPro Accession
domain	Pleckstrin homology domain	126 - 245	IPR001849
conserved_site	Oxysterol-binding protein, conserved site	474 - 484	IPR018494

Functions

		Description
EC Number
Subcellular Localization	Endoplasmic reticulum membrane ; Single-pass membrane protein	Localizes to endoplasmic reticulum-plasma membrane contact sites (EPCS) Localizes to the cortical endoplasmic reticulum at the EPCS
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
endoplasmic reticulum-plasma membrane contact site	A contact site between the endoplasmic reticulum membrane and the plasma membrane, structured by bridging complexes.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
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.

8 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.
oxysterol binding	Binding to oxysterol, an oxidized form of cholesterol.
phosphatidylinositol-4-phosphate binding	Binding to phosphatidylinositol-4-phosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' position.
phosphatidylserine binding	Binding to phosphatidylserine, a class of glycophospholipids in which a phosphatidyl group is esterified to the hydroxyl group of L-serine.
phosphatidylserine transfer activity	Removes phosphatidylserine from the outer leaflet of a donor membrane, transports it through the aqueous phase while protected in a hydrophobic pocket, and brings it to the outer leaflet of an acceptor membrane.
phospholipid transporter activity	Enables the directed movement of phospholipids into, out of or within a cell, or between cells. Phospholipids are a class of lipids containing phosphoric acid as a mono- or diester.
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.

5 GO annotations of biological process

Name	Definition
cholesterol metabolic process	The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues.
cholesterol transport	The directed movement of cholesterol, cholest-5-en-3-beta-ol, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
Golgi to plasma membrane transport	The directed movement of substances from the Golgi to the plasma membrane in transport vesicles that move from the trans-Golgi network to the plasma membrane, where they fuse and release their contents by exocytosis.
phosphatidylserine acyl-chain remodeling	Remodeling the acyl chains of phosphatidylserine, through sequential deacylation and re-acylation reactions, to generate phosphatidylserine containing different types of fatty acid acyl chains.
phospholipid transport	The directed movement of phospholipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Phospholipids are any lipids containing phosphoric acid as a mono- or diester.

5 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
Q969R2	OSBP2	Oxysterol-binding protein 2	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
B9EJ86	Osbpl8	Oxysterol-binding protein-related protein 8	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MKEEAFLRRR	FSLCPPSSTP	QKVDPRKLTR	NLLLSGDNEL	YPLSPGKDME	PNGPSLPRDE
70	80	90	100	110	120
GPPTPSSATK	VPPAEYRLCN	GSDKECVSPT	ARVTKKETLK	AQKENYRQEK	KRATRQLLSA
130	140	150	160	170	180
LTDPSVVIMA	DSLKIRGTLK	SWTKLWCVLK	PGVLLIYKTP	KVGQWVGTVL	LHCCELIERP
190	200	210	220	230	240
SKKDGFCFKL	FHPLDQSVWA	VKGPKGESVG	SITQPLPSSY	LIFRAASESD	GRCWLDALEL
250	260	270	280	290	300
ALRCSSLLRL	GTCKPGRDGE	PGTSPDASPS	SLCGLPASAT	VHPDQDLFPL	NGSSLENDAF
310	320	330	340	350	360
SDKSERENPE	ESDTETQDHS	RKTESGSDQS	ETPGAPVRRG	TTYVEQVQEE	LGELGEASQV
370	380	390	400	410	420
ETVSEENKSL	MWTLLKQLRP	GMDLSRVVLP	TFVLEPRSFL	NKLSDYYYHA	DLLSRAAVEE
430	440	450	460	470	480
DAYSRMKLVL	RWYLSGFYKK	PKGIKKPYNP	ILGETFRCCW	FHPQTDSRTF	YIAEQVSHHP
490	500	510	520	530	540
PVSAFHVSNR	KDGFCISGSI	TAKSRFYGNS	LSALLDGKAT	LTFLNRAEDY	TLTMPYAHCK
550	560	570	580	590	600
GILYGTMTLE	LGGKVTIECA	KNNFQAQLEF	KLKPFFGGST	SINQISGKIT	SGEEVLASLS
610	620	630	640	650	660
GHWDRDVFIK	EEGSGSSALF	WTPSGEVRRQ	RLRQHTVPLE	EQTELESERL	WQHVTRAISK
670	680	690	700	710	720
GDQHRATQEK	FALEEAQRQR	ARERQESLMP	WKPQLFHLDP	ITQEWHYRYE	DHSPWDPLKD
730	740	750	760	770	780
IAQFEQDGIL	RTLQQEAVAR	QTTFLGSPGP	RHERSGPDQR	LRKASDQPSG	HSQATESSGS
790	800	810	820	830	840
TPESCPELSD	EEQDGDFVPG	GESPCPRCRK	EARRLQALHE	AILSIREAQQ	ELHRHLSAML
850	860	870
SSTARAAQAP	TPGLLQSPRS	WFLLCVFLAC	QLFINHILK