AiPD: Autoinhibited Protein Database

Q96CP6

Gene name	GRAMD1A
Protein name	Protein Aster-A
Names	GRAM domain-containing protein 1A
Species	Homo sapiens (Human)
KEGG Pathway	hsa:57655
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-53 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-53 (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 Q96CP6

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96CP6-F1	Predicted				AlphaFoldDB

610 variants for Q96CP6

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA405302032 rs1458325570 CA405302029	2	F>L		No	ClinGen TOPMed gnomAD
CA307696616 rs923270153	3	D>E		No	ClinGen TOPMed gnomAD
rs1295131460 CA405302049	3	D>G		No	ClinGen TOPMed
CA405304384 rs1257658016	4	T>I		No	ClinGen gnomAD
rs754498083 CA9371016	7	H>D		No	ClinGen ExAC gnomAD
rs764843073 CA405304455	7	H>L		No	ClinGen ExAC gnomAD
CA405304447 rs754498083	7	H>N		No	ClinGen ExAC gnomAD
rs764843073 CA9371017	7	H>P		No	ClinGen ExAC gnomAD
rs1378141364 CA405304484	8	S>C		No	ClinGen TOPMed gnomAD
CA9371018 rs538716547	9	G>D		No	ClinGen ExAC gnomAD
rs375002487 CA9371020	10	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs758428360 CA9371019	10	R>W	Variant assessed as Somatic; 4.64e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA405304571 rs924428128	12	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA307696624 rs924428128	12	T>R		No	ClinGen gnomAD
CA405304616 rs1396715329	14	S>N		No	ClinGen gnomAD
CA405304647 rs1308744637	15	S>N		No	ClinGen gnomAD
rs1374980355 CA405304666	16	S>P		No	ClinGen gnomAD
rs780284522 CA9371023	18	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs560717922 CA307696631	20	R>Q		No	ClinGen TOPMed gnomAD
CA9371025 rs768668618	20	R>W		No	ClinGen ExAC gnomAD
CA9371027 rs748644887	22	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs774467744 CA9371026	22	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1235928030 CA405304928	27	P>S		No	ClinGen gnomAD
CA405304947 rs772131074	28	P>A		No	ClinGen TOPMed gnomAD
CA307696635 rs772131074	28	P>S		No	ClinGen TOPMed gnomAD
CA405304942 rs772131074	28	P>T		No	ClinGen TOPMed gnomAD
rs773423276 CA9371029	29	S>N		No	ClinGen ExAC gnomAD
CA9371028 rs772671985	29	S>R		No	ClinGen ExAC gnomAD
rs367650191 CA9371030	30	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs367650191 CA9371031	30	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1288040082 CA405305018	31	P>T		No	ClinGen gnomAD
rs200713250 CA9371033	32	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA307696645 rs200713250	32	P>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	33	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405305085 rs1330776728	34	E>Q		No	ClinGen gnomAD
CA405305184 rs1287437091	37	P>R		No	ClinGen TOPMed
rs1045331360 CA307696648	37	P>S		No	ClinGen gnomAD
CA405305200 rs1600290738	38	G>D		No	ClinGen Ensembl
CA9371036 rs762779764	40	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1205247273 CA405305248	40	M>T		No	ClinGen gnomAD
rs752296570 CA9371035	40	M>V		No	ClinGen ExAC gnomAD
CA9371037 rs371587089	41	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA9371038 rs751484974	42	E>G		No	ClinGen ExAC gnomAD
rs1217307132 CA405305282	42	E>Q		No	ClinGen gnomAD
CA405305326 rs1312727926	43	K>N		No	ClinGen gnomAD
rs757014354 CA9371039	44	G>R		No	ClinGen ExAC gnomAD
TCGA novel	45	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405305413 rs1600290893	47	S>C		No	ClinGen Ensembl
rs754042843 CA9371041	47	S>R		No	ClinGen ExAC gnomAD
rs1600290927 CA405305502	52	G>S		No	ClinGen Ensembl
rs1198854509 CA405305553	55	P>R		No	ClinGen TOPMed gnomAD
rs1600290946 CA405305545	55	P>S		No	ClinGen Ensembl
CA405305583 rs1488335193	57	T>I		No	ClinGen gnomAD
rs1189861455 CA405305594	58	P>L		No	ClinGen gnomAD
CA9371043 rs778930595	59	S>N		No	ClinGen ExAC TOPMed gnomAD
rs562417464 CA9371044	61	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	64	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs952292412 CA307696672	65	S>G		No	ClinGen Ensembl
rs1170680899 CA405305713	65	S>N		No	ClinGen TOPMed gnomAD
rs772065016 CA9371045	66	R>Q		No	ClinGen ExAC gnomAD
rs1006427325 CA307696674	66	R>W		No	ClinGen Ensembl
rs1332263654 CA405305806	69	I>M		No	ClinGen gnomAD
CA9371046 rs374494022	70	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1253615 rs747475800 CA9371047	70	R>H	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs747475800 CA405305843	70	R>L		No	ClinGen ExAC TOPMed gnomAD
rs200055640 CA9371070	79	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs935823636 CA307696713	80	S>N		No	ClinGen gnomAD
rs1243911788 CA405307641	83	S>I		No	ClinGen gnomAD
TCGA novel	85	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9371094 rs747604471	89	R>H		No	ClinGen ExAC gnomAD
CA9371095 rs368528631	90	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1369457587 CA405307920	91	E>K		No	ClinGen TOPMed
CA405308031 rs371499583	93	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9371099 rs776357005	94	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9371098 rs766148365	94	R>W		No	ClinGen ExAC TOPMed gnomAD
CA405308211 rs1329565811	97	F>L		No	ClinGen TOPMed
rs763212765 CA9371100	98	S>G		No	ClinGen ExAC gnomAD
CA405308234 rs1311079104	98	S>N		No	ClinGen gnomAD
rs763212765 CA405308221	98	S>R		No	ClinGen ExAC gnomAD
rs764173658 CA9371101	99	K>Q		No	ClinGen ExAC gnomAD
CA9371102 rs751840346	99	K>T		No	ClinGen ExAC gnomAD
rs1032318880 CA307696838	100	L>V		No	ClinGen Ensembl
rs767721865 CA9371104	101	P>A		No	ClinGen ExAC gnomAD
CA405308345 rs1373777473	101	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	102	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405308440 rs1263824679	104	E>Q		No	ClinGen gnomAD
CA405308482 rs1568323066	105	R>C		No	ClinGen Ensembl
rs750956865 CA9371105	105	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1196958888 CA405308528	107	I>V		No	ClinGen gnomAD
CA9371106 rs756755493	108	V>A		No	ClinGen ExAC gnomAD
TCGA novel	109	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405308847 rs1600293970	110	Y>S		No	ClinGen Ensembl
rs1568323364 CA405308906	111	S>C		No	ClinGen Ensembl
CA405308934 rs1487294780	112	C>R		No	ClinGen TOPMed
CA405308979 rs1205459718	113	A>T		No	ClinGen TOPMed
CA9371147 rs765579990	116	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9371148 rs753099711	116	R>H		No	ClinGen ExAC TOPMed gnomAD
CA9371149 rs758785331	123	R>C		No	ClinGen ExAC gnomAD
CA9371150 rs777364613	123	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA405309361 rs1242964507	127	S>P		No	ClinGen TOPMed
rs1035459969 CA307696935	128	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1399909727 CA405309461	129	N>K		No	ClinGen TOPMed
CA9371155 rs769814732	133	F>L		No	ClinGen ExAC gnomAD
rs749038258 CA9371157	139	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1217832250 COSM1208810 CA405309816	139	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs201363094 CA9371159	143	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1170181204 CA405310072	145	S>C		No	ClinGen TOPMed gnomAD
rs1170181204 CA405310069	145	S>F		No	ClinGen TOPMed gnomAD
rs1421091306 CA405310060	145	S>T		No	ClinGen TOPMed
CA405310107 rs1398416661	146	I>M		No	ClinGen gnomAD
rs767144146 CA9371188	147	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA9371189 rs199663006	148	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs974543130 CA307696992	150	E>K		No	ClinGen TOPMed gnomAD
rs755621608 CA9371190	154	L>V		No	ClinGen ExAC gnomAD
rs1568323871 CA405310394	156	K>T		No	ClinGen Ensembl
CA9371192 rs753816402	157	E>D		No	ClinGen ExAC gnomAD
CA9371193 rs755034748	159	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1045022070 CA307696997	163	I>M		No	ClinGen TOPMed gnomAD
rs1309282788 CA405310726	167	I>T		No	ClinGen gnomAD
CA9371198 rs746090275	168	Q>R		No	ClinGen ExAC gnomAD
CA9371199 rs769848875 COSM1392777	171	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs749761264 CA9371201	173	S>G		No	ClinGen ExAC gnomAD
rs538059805 CA307697003	173	S>N		No	ClinGen Ensembl
CA405310944 COSM1392778 rs1411852504	174	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs774300269 CA9371257	177	F>L		No	ClinGen ExAC gnomAD
rs761524689 CA9371258	179	T>A		No	ClinGen ExAC TOPMed gnomAD
rs376477989 CA9371260	180	S>F		No	ClinGen ESP ExAC gnomAD
CA405311990 rs1419457253	181	F>C		No	ClinGen TOPMed
rs754049262 CA9371261	183	A>P		No	ClinGen ExAC gnomAD
CA307697206 rs754049262	183	A>T		No	ClinGen ExAC gnomAD
rs1199512513 CA405312049	184	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs755226113 CA9371262	184	R>H		No	ClinGen ExAC gnomAD
rs765331104 COSM1680886 CA9371263	186	R>C	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM3712885 rs1169351041 CA405312097	186	R>H	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
rs551820623 CA9371266	190	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA405312200 rs1568325550	191	I>L		No	ClinGen Ensembl
CA9371267 rs747523503	193	R>C		No	ClinGen ExAC gnomAD
CA405312262 rs1225479573	193	R>H		No	ClinGen gnomAD
CA405312293 rs1339772190	195	W>R		No	ClinGen gnomAD
rs757682786 CA9371268	197	N>K		No	ClinGen ExAC gnomAD
CA405312339 rs1236239566	197	N>S		No	ClinGen TOPMed gnomAD
CA9371269 rs781732325	200	L>F		No	ClinGen ExAC gnomAD
rs745502312 CA9371270	201	E>K		No	ClinGen ExAC gnomAD
rs1246485875 CA405314176	203	T>M		No	ClinGen TOPMed gnomAD
CA9371292 rs201931870	205	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA9371293 rs771563151	207	R>C		No	ClinGen ExAC TOPMed gnomAD
rs768145018 CA9371294	207	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1391451271 CA405314263	208	E>K		No	ClinGen TOPMed
rs1391451271 CA405314267	208	E>Q		No	ClinGen TOPMed
rs1405105227 CA405314362	212	L>Q		No	ClinGen TOPMed
CA405314384 rs1250357917	214	H>R		No	ClinGen gnomAD
CA307697576 rs888154704	216	C>R		No	ClinGen gnomAD
CA307697578 rs1006661420	217	Y>C		No	ClinGen TOPMed gnomAD
CA405314421 rs1161993649	217	Y>H		No	ClinGen gnomAD
rs773224886 CA405314429	218	G>R		No	ClinGen ExAC TOPMed gnomAD
CA9371298 rs773224886	218	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1297384300 CA405314459	223	L>I		No	ClinGen TOPMed gnomAD
CA405314471 rs1393033909	225	S>G		No	ClinGen gnomAD
rs1242630285 CA405314494	227	D>E		No	ClinGen TOPMed
rs1307680319 CA405314503	229	D>N		No	ClinGen gnomAD
CA9371300 rs760348791	230	Y>C		No	ClinGen ExAC gnomAD
rs1264539783 CA405314523	231	V>G		No	ClinGen TOPMed gnomAD
CA405314529 rs1323825707	232	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1013443874 CA405314531	233	P>A		No	ClinGen TOPMed gnomAD
CA307697583 rs1013443874	233	P>S		No	ClinGen TOPMed gnomAD
rs770765265 CA9371301	234	L>S		No	ClinGen ExAC TOPMed gnomAD
CA405314536 rs1479883599	234	L>V		No	ClinGen gnomAD
rs866679180 CA307697584	236	L>M		No	ClinGen Ensembl
rs1197381489 CA405314555	237	N>Y		No	ClinGen gnomAD
rs907248598 CA307697587	238	G>D		No	ClinGen TOPMed gnomAD
CA405314565 rs907248598	238	G>V		No	ClinGen TOPMed gnomAD
rs1352524780 CA405314573	240	G>R		No	ClinGen gnomAD
CA307697632 rs372009504	241	T>S		No	ClinGen TOPMed gnomAD
CA307697634 rs918479702	242	P>L		No	ClinGen TOPMed
TCGA novel	244	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9371325 rs761916127	245	V>A		No	ClinGen ExAC gnomAD
rs750877472 CA9371328	250	A>S		No	ClinGen ExAC TOPMed gnomAD
rs750877472 CA9371327	250	A>T		No	ClinGen ExAC TOPMed gnomAD
rs754280652 CA9371330	251	L>P		No	ClinGen ExAC gnomAD
rs1048232910 CA307697642	252	S>R		No	ClinGen gnomAD
rs755360846 CA9371332	253	D>H		No	ClinGen ExAC TOPMed gnomAD
CA9371331 rs755360846	253	D>N		No	ClinGen ExAC TOPMed gnomAD
rs755360846 CA405314662	253	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA405314670 rs1360449232	254	I>F		No	ClinGen TOPMed
rs1176539013 CA405314671	254	I>N		No	ClinGen TOPMed
CA9371334 rs757845825	255	T>A		No	ClinGen ExAC gnomAD
CA405314676 rs757845825	255	T>P		No	ClinGen ExAC gnomAD
CA307697649 rs867628330	256	S>F		No	ClinGen TOPMed
rs201944800 CA9371335	257	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA307697656 rs1039495738	258	G>E		No	ClinGen Ensembl
rs1006630500 CA307697654	258	G>R		No	ClinGen gnomAD
CA307697658 rs900830902	261	D>E		No	ClinGen gnomAD
CA405314710 rs1251472121	261	D>G		No	ClinGen TOPMed
rs781011646 CA9371340	262	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs182927749 CA9371341	262	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781011646 CA9371339	262	R>S		No	ClinGen ExAC gnomAD
rs774655097 CA9371342	264	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs1244979827 CA405314731	265	E>K		No	ClinGen TOPMed
CA9371344 rs748435155	265	E>V		No	ClinGen ExAC TOPMed gnomAD
CA9371345 rs772036426	269	V>G		No	ClinGen ExAC gnomAD
CA405314765 rs1318853694	270	G>C		No	ClinGen gnomAD
CA9371347 rs374622037	271	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs201394899 CA9371350	272	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs765599980 CA9371351	272	R>H		No	ClinGen ExAC TOPMed gnomAD
rs765599980 CA405314776	272	R>L		No	ClinGen ExAC TOPMed gnomAD
CA9371352 rs371486274	273	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758086727 CA9371353	273	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1409508416 CA405314793	274	G>D		No	ClinGen gnomAD
rs760394231 CA307697679	275	H>R		No	ClinGen Ensembl
rs751030324 CA9371355	277	T>M		No	ClinGen ExAC TOPMed gnomAD
COSM1392780 rs781114140 CA9371357	278	P>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs372725667 CA9371358	279	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA405314899 rs1278342331	281	S>C		No	ClinGen TOPMed gnomAD
rs1278342331 CA405314896	281	S>Y		No	ClinGen TOPMed gnomAD
CA307697688 rs971898249	282	R>*		No	ClinGen TOPMed gnomAD
CA9371361 rs748353358	282	R>Q		No	ClinGen ExAC gnomAD
rs199949479 CA9371362	283	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371740352 CA9371364	286	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs938797618 CA307697694	287	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA405314983 rs1243111224	287	A>V		No	ClinGen TOPMed
rs1361092239 CA405315011	289	H>R		No	ClinGen TOPMed
rs1234562427 CA405315020 COSM327441	290	G>R	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1234562427 CA405315025	290	G>W		No	ClinGen TOPMed gnomAD
rs767102367 CA9371393	292	E>D		No	ClinGen ExAC gnomAD
CA405316221 rs1245125855	293	E>K		No	ClinGen gnomAD
CA9371394 rs750005184	295	K>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	297	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9371395 rs760286823	299	V>A		No	ClinGen ExAC TOPMed gnomAD
CA405316378 rs1383698931	299	V>I		No	ClinGen TOPMed
rs1209913629 CA405316422	301	S>N		No	ClinGen gnomAD
CA405316433 rs202058211 COSM1208811	301	S>R	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA405316451 rs1238224102	302	Q>K		No	ClinGen gnomAD
CA405316573 rs201330906	304	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9371398 rs754745864	305	A>P		No	ClinGen ExAC TOPMed gnomAD
CA9371399 rs754745864	305	A>T		No	ClinGen ExAC TOPMed gnomAD
rs751803764 CA9371400	305	A>V		No	ClinGen ExAC gnomAD
CA307697846 rs866784674	307	S>Y		No	ClinGen gnomAD
CA405316633 rs1363298639	308	S>R		No	ClinGen TOPMed
rs1459457214 CA405316718	312	T>S		No	ClinGen gnomAD
rs781414377 CA9371402	313	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1184259863 CA405316825	317	P>H		No	ClinGen TOPMed
rs1017620935 CA307697854	317	P>T		No	ClinGen Ensembl
CA9371405 rs371022002	318	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	318	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405316841 rs371022002	318	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1242652835 CA405316849	319	S>R		No	ClinGen TOPMed
rs749813438 CA9371406	320	T>A		No	ClinGen ExAC TOPMed gnomAD
rs769055746 CA9371407	321	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs774615869 CA9371408	323	T>A		No	ClinGen ExAC gnomAD
rs200458965 CA9371409	323	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA405316965 rs1347989738	324	Q>R		No	ClinGen gnomAD
CA9371411 rs773033458	325	P>A		No	ClinGen ExAC gnomAD
TCGA novel	325	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760200791 CA9371412	326	D>G		No	ClinGen ExAC gnomAD
CA405317099 rs1273964414	331	L>V		No	ClinGen TOPMed
CA405317129 rs1364674539	333	P>L		No	ClinGen TOPMed
rs1364674539 CA405317126	333	P>R		No	ClinGen TOPMed
rs1212908500 CA405317119	333	P>S		No	ClinGen TOPMed
CA405317145 rs1568329436	335	D>N		No	ClinGen Ensembl
CA9371416 rs765051083	336	L>P		No	ClinGen ExAC TOPMed gnomAD
CA9371418 rs758219589	338	P>R		No	ClinGen ExAC TOPMed gnomAD
CA307697872 rs778469767	338	P>S		No	ClinGen Ensembl
CA405317202 rs1415456878	339	S>R		No	ClinGen gnomAD
CA405317219 rs1405599074	341	E>K		No	ClinGen gnomAD
rs1600309415 CA405317326	348	N>Y		No	ClinGen Ensembl
CA9371422 rs756170126	349	S>T		No	ClinGen ExAC gnomAD
rs977189616 CA307697879	350	S>C		No	ClinGen Ensembl
TCGA novel	351	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA307697882 rs924328261	354	G>R		No	ClinGen Ensembl
CA307697885 rs935752573	357	A>P		No	ClinGen TOPMed gnomAD
CA9371445 rs368382914	357	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA9371447 rs375535357	358	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA307698100 rs201058243	360	A>T		No	ClinGen Ensembl
CA9371448 rs770540006	361	A>G		No	ClinGen ExAC gnomAD
rs770540006 TCGA novel CA405317822	361	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA ExAC gnomAD
rs780927984 CA9371449	363	L>F		No	ClinGen ExAC gnomAD
CA307698101 rs866275385	364	P>S		No	ClinGen Ensembl
CA405317907 rs1600314566	365	D>A		No	ClinGen Ensembl
rs368156191 CA9371452	365	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs769359996 CA307698102	365	D>H		No	ClinGen ExAC TOPMed gnomAD
rs769359996 CA9371451	365	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs762941010 CA9371453	367	S>C		No	ClinGen ExAC gnomAD
CA405317968 rs1367884228	368	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM1208813 CA9371455 rs774177933	368	G>S	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs761616229 CA9371456	369	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs766473562 CA9371457	369	R>H		No	ClinGen ExAC gnomAD
rs1231197695 CA405318003	370	L>I		No	ClinGen gnomAD
rs1358737652 CA405318053	371	L>R		No	ClinGen gnomAD
CA9371460 rs765420067	372	I>V		No	ClinGen ExAC gnomAD
rs374797083 CA405318132	374	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA9371461 rs374797083	374	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA405318200 rs1245942769	377	H>L		No	ClinGen gnomAD
rs1245942769 CA405318188	377	H>P		No	ClinGen gnomAD
CA405318266 rs948089718	380	A>P		No	ClinGen TOPMed gnomAD
CA307698104 rs948089718	380	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA405318308 rs757644754	381	E>D		No	ClinGen ExAC gnomAD
CA9371464 rs373468606	381	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9371467 rs745592354	382	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs780649596 CA9371466	382	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1476012828 CA405318323	383	L>F		No	ClinGen Ensembl
CA9371468 rs769182680	385	Q>R		No	ClinGen ExAC gnomAD
rs898605651 CA307698105	386	M>V		No	ClinGen TOPMed
rs200796879 CA9371469	389	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9371471 rs768529688	391	S>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	394	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405318551 rs1227176649	394	L>V		No	ClinGen gnomAD
rs373768365 CA9371473	395	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1568331528 CA405318582	396	G>V		No	ClinGen Ensembl
CA405318646 rs1238409757	401	C>Y		No	ClinGen TOPMed
rs1179230532 CA405319325	406	V>M		No	ClinGen TOPMed
CA405319331 rs1483724757	407	T>A		No	ClinGen TOPMed
rs1041857043 CA307699080	407	T>M		No	ClinGen TOPMed gnomAD
CA405319352 rs1229219054	410	P>R		No	ClinGen gnomAD
CA9371504 rs756463809	411	W>C		No	ClinGen ExAC gnomAD
CA307699103 rs773303390	412	S>C		No	ClinGen Ensembl
CA405319372 rs1345690135	413	G>E		No	ClinGen TOPMed
TCGA novel	414	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1282196187 CA405319377	414	D>Y		No	ClinGen TOPMed
CA405319402 rs1219650586	417	C>Y		No	ClinGen TOPMed
rs770233073 CA9371506	420	R>C		No	ClinGen ExAC TOPMed gnomAD
rs754474256 CA9371507	420	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1035658758 CA307699110	421	R>G		No	ClinGen Ensembl
rs538898774 CA307699113	421	R>L		No	ClinGen 1000Genomes gnomAD
CA405319429 rs538898774	421	R>Q		No	ClinGen 1000Genomes gnomAD
CA9371508 rs778464805	422	V>L		No	ClinGen ExAC TOPMed gnomAD
rs778464805 CA9371509	422	V>M		No	ClinGen ExAC TOPMed gnomAD
CA405319438 rs1352361143	423	L>R		No	ClinGen TOPMed
CA9371510 rs368282539	424	T>M	Variant assessed as Somatic; 4.643e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA405319450 rs371691581	425	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA307699119 rs866759273	425	Y>H		No	ClinGen Ensembl
rs867485981 CA307699122	426	T>A		No	ClinGen Ensembl
CA405319453 rs1477209980	426	T>N		No	ClinGen gnomAD
rs1402616413 CA405319467	428	P>L		No	ClinGen gnomAD
CA405319464 rs749587215	428	P>S		No	ClinGen ExAC TOPMed gnomAD
CA9371515 rs749587215	428	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9371516 rs768825500	429	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1372429370 CA405319475	430	S>G		No	ClinGen gnomAD
CA307699127 rs1006954064	430	S>R		No	ClinGen TOPMed
rs1410547514 CA405319484	431	N>S		No	ClinGen TOPMed gnomAD
rs866415611 CA307699130	432	P>L		No	ClinGen Ensembl
CA9371518 rs761817768	434	G>S		No	ClinGen ExAC
CA405319524 rs1438958127	435	P>S		No	ClinGen gnomAD
CA307699136 rs1033476436	436	K>N		No	ClinGen Ensembl
CA9371521 rs200028587	438	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA405319605 rs1298168550	440	V>M		No	ClinGen Ensembl
rs762468942 CA9371545	445	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1041984894 CA307699210	447	F>I		No	ClinGen Ensembl
rs532310369 CA9371548 CA9371547	447	F>L		No	ClinGen 1000Genomes ExAC gnomAD
CA9371550 rs750199236	448	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9371549 rs73038384	448	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9371551 rs755975236	449	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9371552 rs200063858	449	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA9371554 rs772191872	450	G>S		No	ClinGen ExAC TOPMed gnomAD
rs777758932 CA9371555	451	P>L		No	ClinGen ExAC gnomAD
rs1244887311 CA405319701	452	Q>H		No	ClinGen gnomAD
rs1341695685 CA405319695	452	Q>K		No	ClinGen gnomAD
CA9371557 rs771379443	453	A>T		No	ClinGen ExAC gnomAD
rs759830313 CA9371559	454	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs373799637 CA9371561	455	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs762551631 CA9371562	456	C>G		No	ClinGen ExAC gnomAD
rs1600327851 CA405319724	456	C>W		No	ClinGen Ensembl
CA405319730 rs1600327861	457	V>G		No	ClinGen Ensembl
CA405319735 rs1600327883	458	V>G		No	ClinGen Ensembl
CA9371566 rs201980615	461	E>K		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA405319761 rs1600328000	462	V>G		No	ClinGen Ensembl
rs1411410758 CA405319760	462	V>L		No	ClinGen TOPMed gnomAD
CA405319758 rs1411410758	462	V>M		No	ClinGen TOPMed gnomAD
CA9371569 rs766157442	464	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1252168380 CA405319779	465	Q>R		No	ClinGen TOPMed
rs758601070 CA9371571	466	G>S		No	ClinGen ExAC gnomAD
CA9371572 rs778083304	467	I>V		No	ClinGen ExAC gnomAD
rs527324665 CA9371574	468	P>R		No	ClinGen 1000Genomes ExAC gnomAD
CA405319793 rs1396605433	468	P>T		No	ClinGen gnomAD
rs746434928 CA9371576	469	Y>H		No	ClinGen ExAC gnomAD
CA405319807 rs1317831688	470	Q>*		No	ClinGen TOPMed gnomAD
CA405319806 rs1317831688	470	Q>E		No	ClinGen TOPMed gnomAD
rs984337859 CA307699243	470	Q>R		No	ClinGen Ensembl
CA405319814 rs1233006242	471	D>Y		No	ClinGen gnomAD
rs770162176 CA9371577	472	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA9371578 rs775763103	474	Y>C		No	ClinGen ExAC gnomAD
CA405319843 rs1212271151	475	T>A		No	ClinGen TOPMed gnomAD
CA405319851 rs1231299670	476	A>D		No	ClinGen TOPMed
CA405319862 rs1251138271	478	R>C		No	ClinGen TOPMed gnomAD
CA9371580 rs369279394	478	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA9371581 rs774151524	480	C>Y		No	ClinGen ExAC gnomAD
rs761348115 CA9371582	483	G>S		No	ClinGen ExAC gnomAD
CA9371583 rs767192433	483	G>V		No	ClinGen ExAC TOPMed gnomAD
CA405319910 rs1466469578	486	R>Q		No	ClinGen gnomAD
rs373185819 CA9371585	486	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs539194619 CA307699258	489	A>V		No	ClinGen 1000Genomes TOPMed gnomAD
rs760215740 CA9371589	490	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs754837904 CA9371588	490	R>W		No	ClinGen ExAC TOPMed gnomAD
rs757318037 CA9371591	492	R>*		No	ClinGen ExAC TOPMed gnomAD
rs1314356906 CA405319944	492	R>Q		No	ClinGen TOPMed gnomAD
CA405320568 rs1283799646	493	V>A		No	ClinGen TOPMed
CA405320564 rs1346870043	493	V>M		No	ClinGen TOPMed
rs746441779 CA9371621	494	S>Y		No	ClinGen ExAC gnomAD
TCGA novel	495	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9371622 rs770491592	498	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs776422595 CA9371623	498	R>H	Variant assessed as Somatic; 4.639e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs776422595 CA405320626	498	R>L		No	ClinGen ExAC gnomAD
CA307699945 rs756850258	500	R>*		No	ClinGen TOPMed gnomAD
rs756850258 CA405320649	500	R>G		No	ClinGen TOPMed gnomAD
rs367650806 CA9371625	500	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA9371628 rs762764540	503	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA307699954 rs542970681	504	W>*		No	ClinGen 1000Genomes TOPMed gnomAD
rs750672092 CA9371630	504	W>R		No	ClinGen ExAC gnomAD
CA9371631 rs760657333	505	S>I		No	ClinGen ExAC gnomAD
CA405320783 rs1410167578	507	V>A		No	ClinGen gnomAD
CA405320774 rs1156534243	507	V>M		No	ClinGen TOPMed gnomAD
rs754266755 CA9371634	509	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9371636 rs201676567	510	L>V		No	ClinGen ExAC TOPMed gnomAD
rs780594556 CA307699971	511	I>F		No	ClinGen TOPMed
rs780594556 CA405320841	511	I>L		No	ClinGen TOPMed
CA307699973 rs907625335	511	I>T		No	ClinGen gnomAD
rs758839060 CA9371638	514	N>D		No	ClinGen ExAC TOPMed gnomAD
rs777238052 CA405320919	515	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9371639 rs777238052	515	S>W		No	ClinGen ExAC gnomAD
CA307699978 rs940309926	516	W>G		No	ClinGen TOPMed gnomAD
CA9371641 rs770345885	517	S>G		No	ClinGen ExAC TOPMed gnomAD
CA9371642 rs780797330	517	S>N		No	ClinGen ExAC gnomAD
rs745402036 CA9371643	517	S>R		No	ClinGen ExAC TOPMed gnomAD
rs769675585 CA9371644	518	G>S		No	ClinGen ExAC TOPMed gnomAD
CA405321017 rs1391711904	519	I>N		No	ClinGen TOPMed
rs1378322918 CA405321064	521	D>V		No	ClinGen gnomAD
rs1257546932 CA405321102	523	F>L		No	ClinGen gnomAD
rs377171333 CA9371645	523	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9371646 rs762674637	524	H>Y		No	ClinGen ExAC gnomAD
rs200079015 CA9371647	525	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9371668 rs771145652	528	R>*		No	ClinGen ExAC TOPMed gnomAD
CA9371669 rs372802395	528	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA9371671 rs377034978	530	L>F		No	ClinGen ESP ExAC gnomAD
rs377034978 CA9371670	530	L>V		No	ClinGen ESP ExAC gnomAD
rs776139771 CA9371672	531	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA405321282 rs763597509	532	K>E		No	ClinGen ExAC TOPMed gnomAD
CA9371673 rs763597509	532	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA9371674 rs368898323	533	A>P		No	ClinGen ESP ExAC gnomAD
TCGA novel	534	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751908180 CA9371675	536	L>P		No	ClinGen ExAC gnomAD
TCGA novel	538	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405321379 rs1450172577	539	E>K		No	ClinGen gnomAD
rs1215923698 CA405321411	540	E>D		No	ClinGen gnomAD
rs750130929 CA9371678	542	G>R		No	ClinGen ExAC TOPMed gnomAD
CA9371679 rs755615740	545	A>V		No	ClinGen ExAC gnomAD
rs1374815957 CA405321508	546	R>L		No	ClinGen TOPMed gnomAD
rs1374815957 CA405321503	546	R>Q		No	ClinGen TOPMed gnomAD
CA9371680 rs779578414	546	R>W		No	ClinGen ExAC TOPMed
CA9371681 rs562077836	547	G>A		No	ClinGen 1000Genomes ExAC gnomAD
CA405321522 rs562077836	547	G>V		No	ClinGen 1000Genomes ExAC gnomAD
CA9371682 rs373469052	550	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs774346091 CA307700047	550	S>F		No	ClinGen Ensembl
CA9371685 rs190582427	551	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9371687 rs746163845	553	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9371686 rs371022525	553	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs762971101 CA9371690	554	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9371689 rs201039041	554	R>W		No	ClinGen ExAC TOPMed gnomAD
CA405321632 rs1243445691	555	R>Q		No	ClinGen TOPMed gnomAD
CA9371691 rs769137476	555	R>W	Variant assessed as Somatic; 4.782e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM244788 CA9371692 rs200473202	557	R>Q	prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs564391202 CA307700057	557	R>W		No	ClinGen 1000Genomes gnomAD
rs762221396 CA9371693	558	P>A		No	ClinGen ExAC gnomAD
rs1464746405 CA405321740	560	S>G		No	ClinGen gnomAD
rs750261791 CA9371696	560	S>N		No	ClinGen ExAC TOPMed gnomAD
rs766040255 CA9371697	560	S>R		No	ClinGen ExAC gnomAD
rs754452685 CA9371699	562	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs753306201 CA9371698	562	R>W		No	ClinGen ExAC TOPMed gnomAD
CA9371700 rs778852122	563	A>T		No	ClinGen ExAC TOPMed gnomAD
CA9371702 rs550154589	564	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770095395 CA9371705	565	G>E		No	ClinGen ExAC TOPMed gnomAD
CA9371704 rs199583350	565	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA405321899 rs549285137	566	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749329367 CA9371707	567	G>R		No	ClinGen ExAC gnomAD
CA405321927 rs1479830872	568	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs774913699 CA9371709	570	H>N		No	ClinGen ExAC TOPMed gnomAD
rs1287358038 CA405321975	570	H>Q		No	ClinGen TOPMed gnomAD
CA405321963 rs774913699	570	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1568338910 CA405321980	571	P>A		No	ClinGen Ensembl
rs1262937452 CA405322034	574	D>E		No	ClinGen gnomAD
rs772403182 CA9371711	575	P>H		No	ClinGen ExAC TOPMed gnomAD
CA9371712 rs201640440	576	C>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761060434 CA9371713	576	C>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	577	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9371714 rs765952057	577	A>V		No	ClinGen ExAC TOPMed gnomAD
rs201696171 CA9371716	578	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201696171 CA405322090	578	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201696171 CA307700104	578	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs753446139 CA9371715	578	R>W		No	ClinGen ExAC TOPMed gnomAD
CA405322106 rs1161010328	579	A>V		No	ClinGen gnomAD
CA307700111 rs865804408	580	G>D		No	ClinGen TOPMed
CA9371718 rs557938407	580	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs865804408 CA405322121	580	G>V		No	ClinGen TOPMed
rs758318975 CA9371719	583	T>I		No	ClinGen ExAC TOPMed gnomAD
CA9371722 rs573758124	584	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1034228511 CA307700119	584	S>P		No	ClinGen Ensembl
rs905280597 CA307700172	585	G>D		No	ClinGen gnomAD
rs993040691 CA307700122	585	G>R		No	ClinGen Ensembl
CA307700174 rs866264275	588	S>G		No	ClinGen Ensembl
CA405322296 rs866264275	588	S>R		No	ClinGen Ensembl
CA405322321 rs1211584497	589	S>F		No	ClinGen gnomAD
CA9371750 rs776913228	590	R>C		No	ClinGen ExAC gnomAD
rs555755876 CA9371751	590	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs555755876 CA405322336	590	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9371752 rs769293398	592	S>A		No	ClinGen ExAC gnomAD
rs1600338136 CA405322370	592	S>F		No	ClinGen Ensembl
rs1222601815 CA405322381	593	E>A		No	ClinGen TOPMed
rs369166163 CA9371754	593	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA307700183 rs541225997	595	S>C		No	ClinGen 1000Genomes TOPMed
CA307700186 rs1014196223	596	V>M		No	ClinGen Ensembl
CA405322437 rs1170631492	597	D>Y		No	ClinGen TOPMed gnomAD
rs1053515910 CA307700189	599	G>C		No	ClinGen TOPMed
CA405322481 rs1348930989	599	G>V		No	ClinGen gnomAD
TCGA novel	600	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374726600 CA9371757 CA9371756	601	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	604	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405322573 rs1442221851	605	P>S		No	ClinGen gnomAD
rs1320512256 CA405322585	606	S>G		No	ClinGen gnomAD
CA9371759 rs564706756	606	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1600338429 CA405322597	606	S>R		No	ClinGen Ensembl
rs557614059 CA9371760	607	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1216415790 CA405322608	607	A>S		No	ClinGen gnomAD
rs1600338474 CA405322636	608	L>P		No	ClinGen Ensembl
CA9371761 rs765320250	611	I>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	611	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369953090 CA9371762	613	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs369953090 CA405322749	613	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs776364405 CA9371800	619	L>F		No	ClinGen ExAC gnomAD
rs759359929 CA9371802	620	I>N		No	ClinGen ExAC gnomAD
CA405323593 rs1205652973	620	I>V		No	ClinGen gnomAD
rs557724457 CA307700651	621	I>V		No	ClinGen 1000Genomes TOPMed gnomAD
CA405323637 rs1196083016	622	L>P		No	ClinGen gnomAD
CA9371805 rs761791093	624	A>T		No	ClinGen ExAC gnomAD
rs368505221 CA307700658	626	N>S		No	ClinGen ESP TOPMed gnomAD
rs750870899 CA9371807	627	V>I		No	ClinGen ExAC TOPMed gnomAD
CA9371809 rs767022797	630	F>I		No	ClinGen ExAC TOPMed gnomAD
CA405323777 rs1600343511	631	Y>S		No	ClinGen Ensembl
rs751912479 CA9371810	632	R>C		No	ClinGen ExAC TOPMed gnomAD
rs755406863 CA9371811	632	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs755406863 CA9371812	632	R>L		No	ClinGen ExAC TOPMed gnomAD
CA405323805 rs1316583239	633	L>F		No	ClinGen TOPMed gnomAD
rs747901853 CA9371813	637	E>D		No	ClinGen ExAC gnomAD
CA9371814 rs757817976	639	T>I		No	ClinGen ExAC gnomAD
CA405323904 rs757817976	639	T>R		No	ClinGen ExAC gnomAD
rs200752248 CA9371815	640	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA9371817 rs770863701	641	H>R		No	ClinGen ExAC gnomAD
rs746525769 CA9371816	641	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA405323917 rs1378054436	642	T>A		No	ClinGen TOPMed
rs776558473 CA9371818	644	E>D		No	ClinGen ExAC gnomAD
CA9371819 rs371582697	645	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA307700684 rs200311339	647	H>Q		No	ClinGen 1000Genomes
CA405323986 rs1243958001	650	A>D		No	ClinGen TOPMed gnomAD
rs1164519549 CA405324005	652	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1415305953 CA405324043	654	G>D		No	ClinGen gnomAD
CA405324119 rs1476346477	655	K>R		No	ClinGen TOPMed gnomAD
rs781098278 CA9371838	656	F>L		No	ClinGen ExAC gnomAD
rs1600344236 CA405324133	656	F>S		No	ClinGen Ensembl
rs1363057731 CA405324143	657	P>T		No	ClinGen TOPMed gnomAD
rs1160263506 CA405324172	658	Q>H		No	ClinGen gnomAD
CA9371840 rs769550732	659	T>A		No	ClinGen ExAC gnomAD
CA9371841 rs375746328	659	T>M	Variant assessed as Somatic; 4.806e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA405324210 rs1287984184	661	T>I		No	ClinGen TOPMed
CA307700752 rs949047209	663	W>C		No	ClinGen TOPMed gnomAD
CA9371844 rs773318704	664	A>T		No	ClinGen ExAC gnomAD
CA9371846 rs766631594	665	E>K		No	ClinGen ExAC gnomAD
rs777247074 CA9371847	668	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9371849 rs765868120	672	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA405324382 rs1278332624	673	F>L		No	ClinGen gnomAD
rs1201265517 CA405324412	674	H>R		No	ClinGen gnomAD
rs190169534 CA9371852	675	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA307700771 rs1048541704	676	V>M		No	ClinGen Ensembl
rs1600344541 CA405324486	678	V>G		No	ClinGen Ensembl
rs1448664284 CA405324505	679	H>Q		No	ClinGen TOPMed gnomAD
CA307700774 rs888648528	680	K>R		No	ClinGen gnomAD
CA405324534 rs1300363046	681	W>*		No	ClinGen TOPMed
rs1401004384 CA405324544	681	W>C		No	ClinGen TOPMed
rs1364299279 CA405324529	681	W>R		No	ClinGen TOPMed gnomAD
CA405324600 rs866834909	684	I>M		No	ClinGen gnomAD
CA9371855 rs756726505	686	R>G		No	ClinGen ExAC TOPMed gnomAD
CA405324620 rs749955019	686	R>L		No	ClinGen ExAC gnomAD
CA9371856 rs749955019	686	R>Q		No	ClinGen ExAC gnomAD
COSM1208814 CA9371854 rs756726505	686	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA405324625 rs1376801362	687	A>P		No	ClinGen gnomAD
rs370077465 CA9371859	689	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1222339239 CA405324677	690	E>D		No	ClinGen gnomAD
rs560884243 CA9371860	692	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778050841 CA9371861	693	D>N		No	ClinGen ExAC gnomAD
CA405324714 rs1378252337	693	D>V		No	ClinGen gnomAD
rs1234260994 CA405324722	694	E>K		No	ClinGen gnomAD
rs1301274277 CA405324729	694	E>V		No	ClinGen gnomAD
CA9371901 rs756191681	695	M>L		No	ClinGen ExAC gnomAD
rs779944486 CA9371902	696	K>T		No	ClinGen ExAC gnomAD
CA405325804 rs1334993631	697	F>V		No	ClinGen gnomAD
rs1193863139 CA405325823	698	S>L		No	ClinGen TOPMed gnomAD
CA9371904 rs768974341	700	E>K		No	ClinGen ExAC gnomAD
CA405325881 rs1370762276	703	H>R		No	ClinGen TOPMed
CA9371906 rs748497384	704	Q>*		No	ClinGen ExAC gnomAD
rs1406412438 CA405325902	704	Q>R		No	ClinGen gnomAD
rs1159058837 CA405325936	705	G>V		No	ClinGen TOPMed gnomAD
rs1343447980 CA405325950	706	I>N		No	ClinGen gnomAD
CA9371907 rs772490598	707	T>S		No	ClinGen ExAC TOPMed gnomAD
CA9371910 rs766078482	713	F>L		No	ClinGen ExAC gnomAD
rs759092464 CA9371912	715	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1057353058 CA307701363	717	P>R		No	ClinGen Ensembl
rs1380212394 CA405326173	717	P>S		No	ClinGen TOPMed gnomAD
CA9371914 rs752742522	718	R>Q		No	ClinGen ExAC gnomAD
CA9371913 rs765210680	718	R>W		No	ClinGen ExAC gnomAD
CA405326223 rs1252800164	720	D>G		No	ClinGen TOPMed
rs749496815 CA307701370	720	D>N		No	ClinGen TOPMed
TCGA novel	721	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1054899105 CA307701372	724	S>A		No	ClinGen TOPMed
rs1484816597	725	S>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q96CP6

2 regional properties for Q96CP6

Type	Name	Position	InterPro Accession
domain	GRAM domain	91 - 198	IPR004182
domain	VASt domain	367 - 538	IPR031968

Functions

		Description
EC Number
Subcellular Localization	Endoplasmic reticulum membrane ; Single-pass membrane protein Cell membrane ; Single-pass membrane protein Cytoplasmic vesicle, autophagosome	In lipid-poor conditions localizes to the ER membrane and is recruited to endoplasmic reticulum-plasma membrane contact sites (EPCS) in response to excess cholesterol in the PM (By similarity) Localizes to distinct EPCS than GRAMD2A and ESYT2/3 (PubMed:29469807)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

10 GO annotations of cellular component

Name	Definition
autophagosome	A double-membrane-bounded compartment that engulfs endogenous cellular material as well as invading microorganisms to target them to the lytic vacuole/lysosome for degradation as part of macroautophagy.
cytoplasmic vesicle	A vesicle found in the cytoplasm of a cell.
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.
extrinsic component of cytoplasmic side of plasma membrane	The component of a plasma membrane consisting of gene products and protein complexes that are loosely bound to its cytoplasmic surface, but not integrated into the hydrophobic region.
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.
intrinsic component of endoplasmic reticulum membrane	The component of the endoplasmic reticulum membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane.
organelle membrane contact site	A zone of apposition between the membranes of an organelle with another membrane, either another membrane of the same organelle, a membrane of another organelle, or the plasma membrane. Membrane contact sites (MCSs) are structured by bridging complexes. They are specialized for communication, including the efficient traffic of small molecules such as Ca2+ ions and lipids, as well as enzyme-substrate interactions.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

4 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.
cholesterol transfer activity	Removes cholesterol from a membrane or a monolayer lipid particle, transports it through the aqueous phase while protected in a hydrophobic pocket, and brings it to an acceptor membrane or lipid particle.
sterol binding	Binding to a sterol, a steroid containing a hydroxy group in the 3 position, closely related to cholestan-3-ol.
sterol transfer activity	Removes a sterol from a membrane or a monolayer lipid particle, transports it through the aqueous phase while protected in a hydrophobic pocket, and brings it to an acceptor membrane or lipid particle.

3 GO annotations of biological process

Name	Definition
autophagy	The cellular catabolic process in which cells digest parts of their own cytoplasm; allows for both recycling of macromolecular constituents under conditions of cellular stress and remodeling the intracellular structure for cell differentiation.
cellular response to cholesterol	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cholesterol stimulus.
intracellular sterol transport	The directed movement of sterols within cells.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8IYS0	GRAMD1C	Protein Aster-C	Homo sapiens (Human)	PR
Q3KR37	GRAMD1B	Protein Aster-B	Homo sapiens (Human)	PR
Q80TI0	Gramd1b	Protein Aster-B	Mus musculus (Mouse)	PR
Q9ZVT9	At1g03370	C2 and GRAM domain-containing protein At1g03370	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FGS8	At5g50170	C2 and GRAM domain-containing protein At5g50170	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MFDTTPHSGR	STPSSSPSLR	KRLQLLPPSR	PPPEPEPGTM	VEKGSDSSSE	KGGVPGTPST
70	80	90	100	110	120
QSLGSRNFIR	NSKKMQSWYS	MLSPTYKQRN	EDFRKLFSKL	PEAERLIVDY	SCALQREILL
130	140	150	160	170	180
QGRLYLSENW	ICFYSNIFRW	ETTISIQLKE	VTCLKKEKTA	KLIPNAIQIC	TESEKHFFTS
190	200	210	220	230	240
FGARDRCFLL	IFRLWQNALL	EKTLSPRELW	HLVHQCYGSE	LGLTSEDEDY	VSPLQLNGLG
250	260	270	280	290	300
TPKEVGDVIA	LSDITSSGAA	DRSQEPSPVG	SRRGHVTPNL	SRASSDADHG	AEEDKEEQVD
310	320	330	340	350	360
SQPDASSSQT	VTPVAEPPST	EPTQPDGPTT	LGPLDLLPSE	ELLTDTSNSS	SSTGEEADLA
370	380	390	400	410	420
ALLPDLSGRL	LINSVFHVGA	ERLQQMLFSD	SPFLQGFLQQ	CKFTDVTLSP	WSGDSKCHQR
430	440	450	460	470	480
RVLTYTIPIS	NPLGPKSASV	VETQTLFRRG	PQAGGCVVDS	EVLTQGIPYQ	DYFYTAHRYC
490	500	510	520	530	540
ILGLARNKAR	LRVSSEIRYR	KQPWSLVKSL	IEKNSWSGIE	DYFHHLEREL	AKAEKLSLEE
550	560	570	580	590	600
GGKDARGLLS	GLRRRKRPLS	WRAHGDGPQH	PDPDPCARAG	IHTSGSLSSR	FSEPSVDQGP
610	620	630	640	650	660
GAGIPSALVL	ISIVICVSLI	ILIALNVLLF	YRLWSLERTA	HTFESWHSLA	LAKGKFPQTA
670	680	690	700	710	720
TEWAEILALQ	KQFHSVEVHK	WRQILRASVE	LLDEMKFSLE	KLHQGITVSD	PPFDTQPRPD

DSFS