AiPD: Autoinhibited Protein Database

Q8WYK0

Gene name	ACOT12 (CACH, CACH1, STARD15)
Protein name	Acetyl-coenzyme A thioesterase
Names	Acyl-CoA thioester hydrolase 12, Acyl-coenzyme A thioesterase 12, Acyl-CoA thioesterase 12, Cytoplasmic acetyl-CoA hydrolase 1, CACH-1, hCACH-1, START domain-containing protein 15, StARD15
Species	Homo sapiens (Human)
KEGG Pathway	hsa:134526
EC number	3.1.2.1: Thiolester hydrolases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

105-207 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

105-207 (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

4 structures for Q8WYK0

Entry ID	Method	Resolution	Chain	Position	Source
3B7K	X-ray	270 A	A/B/C	7-316	PDB
4MOB	X-ray	240 A	A	7-336	PDB
4MOC	X-ray	250 A	A	7-336	PDB
AF-Q8WYK0-F1	Predicted				AlphaFoldDB

517 variants for Q8WYK0

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1158331842 CA360348897	2	E>D		No	ClinGen gnomAD
CA121767043 rs995179246	3	R>P		No	ClinGen TOPMed
rs1420038080 CA360348888	4	P>L		No	ClinGen TOPMed gnomAD
rs1580606877 CA360348883	5	A>E		No	ClinGen Ensembl
rs1308527458 CA360348879	6	P>A		No	ClinGen TOPMed
CA360348875 rs1230244053	6	P>L		No	ClinGen TOPMed
rs1308527458 CA360348878	6	P>S		No	ClinGen TOPMed
rs1235908446 CA360348872	7	G>C		No	ClinGen gnomAD
CA360348874 rs1235908446	7	G>S		No	ClinGen gnomAD
CA3330798 rs748378127	8	E>K		No	ClinGen ExAC TOPMed gnomAD
rs749685303 CA3330795	11	M>R		No	ClinGen ExAC TOPMed gnomAD
CA3330796 rs769121753	11	M>V		No	ClinGen ExAC gnomAD
TCGA novel	14	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360348820 rs1192214030	15	I>L		No	ClinGen TOPMed
rs1233335676 CA360348806	16	Q>H		No	ClinGen gnomAD
rs780389921 CA3330794	17	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1432718276 CA360348798	18	A>P		No	ClinGen gnomAD
rs1326738626 CA360348797	18	A>V		No	ClinGen gnomAD
CA360348794 rs1241590751	19	H>N		No	ClinGen gnomAD
rs756652221 CA3330793	20	A>T		No	ClinGen ExAC gnomAD
rs1455529480 CA360348784	20	A>V		No	ClinGen gnomAD
rs745312588 CA3330792	23	R>C		No	ClinGen ExAC gnomAD
CA360348761 rs1367863067	24	G>D		No	ClinGen TOPMed
rs780669199 CA3330791	26	L>M		No	ClinGen ExAC gnomAD
rs143599174 CA3330790	27	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763754437 CA3330788	29	G>E		No	ClinGen ExAC gnomAD
rs948366163 CA121767040	32	L>P		No	ClinGen Ensembl
CA3330786 rs752540904	34	W>*		No	ClinGen ExAC TOPMed gnomAD
rs1362723869 CA360348699	34	W>C		No	ClinGen TOPMed
CA3330787 rs758088057	34	W>G		No	ClinGen ExAC TOPMed gnomAD
CA121767038 rs758088057	34	W>R		No	ClinGen ExAC TOPMed gnomAD
CA360348686 rs1311154477	36	D>G		No	ClinGen TOPMed
rs1470254720 CA360348680	37	T>A		No	ClinGen gnomAD
rs935906865 CA121767036	38	T>I		No	ClinGen Ensembl
CA121767035 rs924593569	39	A>G		No	ClinGen gnomAD
rs924593569 CA360348666	39	A>V		No	ClinGen gnomAD
CA360348647 rs1320588186	42	A>V		No	ClinGen gnomAD
CA360348644 rs1215901696	43	A>S		No	ClinGen gnomAD
CA360348608 rs1198940567	46	H>Q		No	ClinGen gnomAD
rs899255702 CA121766203	46	H>Y		No	ClinGen Ensembl
CA3330770 rs202145349	48	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1370251510 CA360348600	48	G>R		No	ClinGen gnomAD
rs778762254 CA3330767	50	S>F		No	ClinGen ExAC TOPMed gnomAD
CA121766201 rs754771643	51	C>*		No	ClinGen ExAC TOPMed gnomAD
CA121766202 rs974153647	51	C>Y		No	ClinGen TOPMed
CA121766200 rs753806319	52	V>F		No	ClinGen ExAC TOPMed gnomAD
rs753806319 CA3330765	52	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1207289955 CA360348569	53	T>I		No	ClinGen TOPMed gnomAD
rs1487958643 CA360348561	55	S>P		No	ClinGen TOPMed
CA360348554 rs1243680880	56	V>M		No	ClinGen TOPMed
TCGA novel	57	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360348545 rs1410755983	57	D>V		No	ClinGen gnomAD
rs766442464 CA3330764	58	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs908095707 CA121766199	59	I>T		No	ClinGen Ensembl
rs1486943978 CA360348499	63	E>D		No	ClinGen TOPMed
rs751698412 CA3330762	65	A>T		No	ClinGen ExAC gnomAD
CA3330741 rs758454253	68	G>V		No	ClinGen ExAC gnomAD
rs752913048 CA3330740	69	Q>K		No	ClinGen ExAC gnomAD
CA360293508 rs1364442761	69	Q>R		No	ClinGen gnomAD
TCGA novel	72	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1289980867 CA360293457	73	I>F		No	ClinGen gnomAD
CA3330739 rs373564397	75	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs955913825 CA121383754	76	K>*		No	ClinGen Ensembl
rs759826001 CA3330738	78	T>I		No	ClinGen ExAC gnomAD
CA3330737 rs370780920	79	R>G		No	ClinGen ESP ExAC gnomAD
rs766787273 CA3330736	79	R>K		No	ClinGen ExAC gnomAD
CA360293353 rs1368750703	80	A>T		No	ClinGen gnomAD
rs773631416 CA3330734	81	F>L		No	ClinGen ExAC TOPMed gnomAD
rs142627904 CA3330735	81	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1263528770 CA360293316	82	S>N		No	ClinGen TOPMed gnomAD
CA3330731 rs774015295	84	S>I		No	ClinGen ExAC gnomAD
CA3330732 rs774015295	84	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA360293275 rs1266140313	85	M>K		No	ClinGen gnomAD
CA360293272 rs1266140313	85	M>T		No	ClinGen gnomAD
CA360293071 rs1331215487	88	S>C		No	ClinGen TOPMed gnomAD
rs1331215487 CA360293072	88	S>G		No	ClinGen TOPMed gnomAD
rs1308252019 CA360293033	93	V>I		No	ClinGen gnomAD
CA360293034 rs1308252019	93	V>L		No	ClinGen gnomAD
rs139161511 CA3330709	94	Q>R		No	ClinGen ESP ExAC gnomAD
rs1174268002 CA360293017	95	D>V		No	ClinGen gnomAD
TCGA novel	95	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA121382291 rs920303941	96	M>I		No	ClinGen TOPMed
rs973165176 CA121382289	98	T>S		No	ClinGen Ensembl
rs775325942 CA3330708	99	G>D		No	ClinGen ExAC gnomAD
rs1204630887 CA360292956	104	V>G		No	ClinGen gnomAD
rs1482293484 CA360292954	105	S>G		No	ClinGen gnomAD
TCGA novel	107	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3330704 rs757152139	107	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1273565420 CA360292931	108	F>L		No	ClinGen gnomAD
rs532842234 CA3330702	108	F>V		No	ClinGen ExAC gnomAD
rs1230517615 CA360292922	110	T>A		No	ClinGen gnomAD
rs755088747 CA3330701	111	F>S		No	ClinGen ExAC TOPMed gnomAD
rs1419753960 CA360292905	112	V>G		No	ClinGen Ensembl
CA3330700 rs754036561	113	A>D		No	ClinGen ExAC gnomAD
CA3330699 rs780278602	114	K>Q		No	ClinGen ExAC gnomAD
rs907563966 CA121382277	115	P>L		No	ClinGen Ensembl
CA121382279 rs201904509	115	P>S		No	ClinGen 1000Genomes gnomAD
CA360292887 rs1335979493	116	V>L		No	ClinGen gnomAD
rs756431922 CA3330698	117	G>A		No	ClinGen ExAC gnomAD
rs750758522 CA360292858	120	K>R		No	ClinGen ExAC gnomAD
rs750758522 CA3330697	120	K>T		No	ClinGen ExAC gnomAD
CA360292836 rs1459619704	121	I>T		No	ClinGen TOPMed
CA3330678 rs750719241	121	I>V		No	ClinGen ExAC TOPMed gnomAD
rs757681963 CA3330676	122	H>L		No	ClinGen ExAC gnomAD
CA3330677 rs757681963	122	H>R		No	ClinGen ExAC gnomAD
CA3330674 rs764726290	123	L>V		No	ClinGen ExAC gnomAD
rs1202517021 CA360292808	125	P>L		No	ClinGen TOPMed
CA360292800 rs1326376978	127	T>A		No	ClinGen gnomAD
CA360292795 rs1334343845	128	L>I		No	ClinGen TOPMed gnomAD
rs1402293491 CA360292787	129	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs767718680 CA3330673	130	T>N		No	ClinGen ExAC TOPMed gnomAD
CA3330671 rs764894072	132	Q>*		No	ClinGen ExAC gnomAD
rs759105449 CA121381567	132	Q>H		No	ClinGen ExAC gnomAD
TCGA novel	133	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360292763 rs1175193270	133	D>N		No	ClinGen TOPMed
CA3330669 rs370312641	134	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3330668 rs182807009	135	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA360292737 rs764895161	137	H>N		No	ClinGen gnomAD
CA121381563 rs764895161	137	H>Y		No	ClinGen gnomAD
rs760539790 CA3330667	138	N>K		No	ClinGen ExAC TOPMed gnomAD
CA360292718 rs1580563707	140	A>T		No	ClinGen Ensembl
rs1468263490 CA360292705	142	E>Q		No	ClinGen TOPMed
rs552586784 CA3330664	143	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	144	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1580563669 CA360292684	145	K>E		No	ClinGen Ensembl
CA360292673 rs1561338277	146	V>A		No	ClinGen Ensembl
rs780095623 CA3330662 COSM173685	147	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs769986706 COSM3139403 CA3330661	147	R>Q	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs746051282 CA3330660	148	L>V		No	ClinGen ExAC gnomAD
rs1247906408 CA360292658	149	Q>R		No	ClinGen gnomAD
rs147339997 CA3330659	151	E>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA360292646 rs1561338240	151	E>K		No	ClinGen Ensembl
CA360292632 rs1342522667	152	D>E		No	ClinGen gnomAD
CA360292635 rs1230426998	152	D>G		No	ClinGen TOPMed gnomAD
rs1222312080 CA360292625	154	F>I		No	ClinGen TOPMed
CA360292621 rs1278714026	154	F>S		No	ClinGen TOPMed
rs1385133922 CA360292613	155	N>S		No	ClinGen gnomAD
CA3330655 rs778364116	160	E>A		No	ClinGen ExAC gnomAD
CA3330654 rs758956604	160	E>D		No	ClinGen ExAC gnomAD
rs753320206 CA3330653 COSM294086	162	S>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA360292556 rs1167301024	163	K>Q		No	ClinGen gnomAD
rs764808251 CA3330652	164	F>I		No	ClinGen ExAC gnomAD
CA3330651 rs754563959	164	F>S		No	ClinGen ExAC gnomAD
rs976171393 CA121381545	165	D>Y		No	ClinGen Ensembl
rs753382440 CA3330650	166	D>N		No	ClinGen ExAC TOPMed gnomAD
CA360291639 rs1359888979	166	D>V		No	ClinGen TOPMed
rs1580546094 CA360291628	168	I>F		No	ClinGen Ensembl
CA3330633 rs754405590	170	D>E		No	ClinGen ExAC gnomAD
CA3330634 rs779496011	170	D>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs533675788 CA360291577	175	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs533675788 CA360291576	175	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3330632 rs753393558	175	A>T		No	ClinGen ExAC gnomAD
rs533675788 COSM1471805 CA3330631	175	A>V	prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA3330629 rs750143663	180	G>V		No	ClinGen ExAC
CA3330625 rs774226939	183	V>I		No	ClinGen ExAC TOPMed gnomAD
rs764126125 CA3330624	184	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA3330623 rs759471963	185	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1561330223 CA360291475	185	S>N		No	ClinGen Ensembl
rs1425358380 CA360291440	187	E>D		No	ClinGen gnomAD
rs200633967 CA3330621	189	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774734953 CA3330622	189	V>D		No	ClinGen ExAC
VAR_064691	190	L>H	found in a clear cell renal carcinoma case; somatic mutation [UniProt]	No	UniProt
rs1457856551 CA360291416	190	L>V		No	ClinGen TOPMed
rs201855173 CA3330620	192	P>H		No	ClinGen ExAC TOPMed gnomAD
rs1453761198 CA360291374	193	H>Q		No	ClinGen TOPMed
rs1172882238 CA360291359	195	N>D		No	ClinGen TOPMed
rs149420016 CA3330619	197	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs772516081 CA3330617	198	G>R		No	ClinGen ExAC TOPMed gnomAD
CA121379288 rs1037776606	200	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs748553749 CA3330616	203	G>A		No	ClinGen ExAC gnomAD
rs1580545874 CA360291252	203	G>C		No	ClinGen Ensembl
rs769220877 CA3330614	205	I>M		No	ClinGen ExAC gnomAD
CA360291191 rs1312509130	207	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA121379283 rs1053533674	208	W>C		No	ClinGen Ensembl
CA360291186 rs1365534644	208	W>R		No	ClinGen gnomAD
CA360291171 rs1368040833	209	M>L		No	ClinGen gnomAD
rs1050161774 CA360291137	210	E>D		No	ClinGen TOPMed
CA121379281 rs999084466	210	E>K		No	ClinGen Ensembl
rs1435191545 CA360291096	212	V>A		No	ClinGen gnomAD
TCGA novel	212	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360291089 rs750057283	213	A>P		No	ClinGen ExAC gnomAD
rs750057283 CA3330610	213	A>S		No	ClinGen ExAC gnomAD
CA121379276 rs902129288	214	T>I		No	ClinGen TOPMed gnomAD
rs902129288 CA360291065	214	T>N		No	ClinGen TOPMed gnomAD
CA3330608 rs757009824	215	I>V		No	ClinGen ExAC TOPMed gnomAD
CA121379273 rs76933283	216	S>F		No	ClinGen Ensembl
rs568765810 CA3330607	218	S>G		No	ClinGen 1000Genomes ExAC gnomAD
CA3330585 rs760769255	218	S>R		No	ClinGen ExAC gnomAD
rs750544764 CA3330584	219	R>C		No	ClinGen ExAC TOPMed gnomAD
CA3330583 rs767764544	219	R>H		No	ClinGen ExAC TOPMed gnomAD
rs767764544 CA121379050	219	R>L		No	ClinGen ExAC TOPMed gnomAD
CA3330582 rs762092579	221	C>F		No	ClinGen ExAC TOPMed gnomAD
rs762092579 CA360290784	221	C>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	222	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3330581 rs774478305	222	W>R		No	ClinGen ExAC gnomAD
CA360290754 rs529626824	223	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3330580 rs529626824	223	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA360290734 rs1275849312	224	H>R		No	ClinGen TOPMed gnomAD
CA121379044 rs1050471662	227	L>P		No	ClinGen Ensembl
rs763252426 CA3330579	228	K>E		No	ClinGen ExAC gnomAD
rs746428835 CA3330576	230	V>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	230	V>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3330577 VAR_048192 rs34607174	230	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1331125689 CA360290511	231	D>V		No	ClinGen TOPMed gnomAD
rs369118490 CA360290497	232	M>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs369118490 CA3330575	232	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	234	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375702677 COSM3718652 CA3330573	236	R>Q	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA3330574 rs770465905	236	R>W		No	ClinGen ExAC TOPMed gnomAD
CA3330572 rs777311789	237	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1252335365 CA360290395	238	P>L		No	ClinGen TOPMed
rs1252335365 CA360290399	238	P>Q		No	ClinGen TOPMed
CA360290390 rs1466627565	239	S>P		No	ClinGen gnomAD
CA360290335 rs1158060695	243	D>H		No	ClinGen Ensembl
CA3330571 rs138381368	244	R>G		No	ClinGen ESP ExAC TOPMed
rs199607014 CA121379032	244	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs199607014 CA3330570	244	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs778936135 CA3330569	245	L>P		No	ClinGen ExAC TOPMed gnomAD
rs767676675 CA3330566	255	F>C		No	ClinGen ExAC gnomAD
CA360290125 rs1420816413	258	C>R		No	ClinGen TOPMed
rs982234360 CA121379021	258	C>Y		No	ClinGen Ensembl
TCGA novel	260	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765561312 CA3330541	261	V>A		No	ClinGen ExAC TOPMed gnomAD
rs765561312 CA360289963	261	V>D		No	ClinGen ExAC TOPMed gnomAD
CA360289967 rs1382031479	261	V>L		No	ClinGen gnomAD
CA3330540 rs759913853	263	V>A		No	ClinGen ExAC gnomAD
CA3330539 rs147070236	264	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA3330538 rs557955647	264	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs557955647 CA360289920	264	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772583126 CA3330536	265	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1164254650 CA360289886	266	E>D		No	ClinGen gnomAD
CA360289872 rs1444390448	267	A>D		No	ClinGen gnomAD
rs1399283527 CA360289878	267	A>T		No	ClinGen gnomAD
rs201158350 CA121378846	272	E>A		No	ClinGen Ensembl
rs1465878292 CA360289768	273	W>*		No	ClinGen gnomAD
CA3330533 rs368741983	274	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1561328162 CA360289752	275	E>G		No	ClinGen Ensembl
rs200358101 CA3330530	275	E>K	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs200358101 CA3330531	275	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA360289753 rs1561328162	275	E>V		No	ClinGen Ensembl
rs780074046 CA3330529	276	G>D		No	ClinGen ExAC TOPMed gnomAD
rs780074046 CA121378838	276	G>V		No	ClinGen ExAC TOPMed gnomAD
rs769635280 CA3330528	277	R>*		No	ClinGen ExAC gnomAD
CA3330527 rs777679257	277	R>L		No	ClinGen ExAC TOPMed gnomAD
rs777679257 CA121378834	277	R>P		No	ClinGen ExAC TOPMed gnomAD
CA3330526 rs777679257	277	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA121378830 rs193144776	278	G>A		No	ClinGen 1000Genomes ExAC
rs193144776 CA3330525	278	G>E		No	ClinGen 1000Genomes ExAC
rs1201666611 CA360289736	278	G>R		No	ClinGen TOPMed gnomAD
rs201083196 COSM1070750 CA3330523	279	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs199564842 CA3330522	279	R>H		No	ClinGen 1000Genomes ExAC TOPMed
rs766823240 CA3330520	281	I>T		No	ClinGen ExAC gnomAD
CA3330521 rs754214348	281	I>V		No	ClinGen ExAC gnomAD
rs1265926997 CA360289664	282	N>I		No	ClinGen gnomAD
CA3330518 rs750980459	283	S>N		No	ClinGen ExAC gnomAD
CA3330517 rs550490865	284	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs35316986 CA121378819	286	L>V		No	ClinGen Ensembl
rs1561328028 CA360289574	287	I>T		No	ClinGen Ensembl
rs761432561 CA3330516	288	Y>C		No	ClinGen ExAC
CA3330515 rs774109083	289	N>D		No	ClinGen ExAC TOPMed gnomAD
CA360289535 rs1364051939	289	N>S		No	ClinGen TOPMed gnomAD
CA360289544 rs774109083	289	N>Y		No	ClinGen ExAC TOPMed gnomAD
rs1224216648 CA360289506	291	A>T		No	ClinGen TOPMed
rs768431411 CA3330514	292	D>N		No	ClinGen ExAC gnomAD
rs762782461 CA3330513	293	D>N		No	ClinGen ExAC gnomAD
CA3330512 rs368732589	294	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs868792940 CA121378815	295	E>K		No	ClinGen Ensembl
TCGA novel	297	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	297	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3330510 rs745767657	298	I>V		No	ClinGen ExAC gnomAD
rs151236706 CA3330509	299	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	299	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1561327935 CA360289435	301	P>S		No	ClinGen Ensembl
CA3330507 rs748229648	305	P>S		No	ClinGen ExAC gnomAD
rs1272201530 CA360289404	306	I>L		No	ClinGen gnomAD
CA360289392 rs1196917281	307	S>L		No	ClinGen TOPMed
CA360289304 rs749449457	309	D>G		No	ClinGen ExAC gnomAD
CA3330484 rs749449457	309	D>V		No	ClinGen ExAC gnomAD
rs780347487 CA3330483 COSM1244113	310	D>Y	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA3330482 rs142273702	313	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs781742839 CA3330480	313	R>H		No	ClinGen ExAC TOPMed gnomAD
CA3330481 rs781742839	313	R>L		No	ClinGen ExAC TOPMed gnomAD
rs533220517 CA3330479	314	Y>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA360289228 rs371159125	315	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA3330477 rs371159125 COSM1070749	315	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA3330478 rs564234792	315	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA360289224 rs1176594357	316	G>R		No	ClinGen gnomAD
rs1312710667 CA360289179	319	A>V		No	ClinGen TOPMed
CA3330473 rs149103852	320	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
COSM483114 CA3330472 rs78935755	320	R>H	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA360289166 rs78935755	320	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3330474 rs149103852	320	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1580540804 CA360289158	321	K>T		No	ClinGen Ensembl
rs776472585 COSM1070748 CA3330471	322	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs766228561 COSM197038 CA3330470	322	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3330469 rs760574107	323	I>T		No	ClinGen ExAC gnomAD
rs113234186 CA3330468	324	R>C	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs377749793 CA3330466 COSM739051	324	R>H	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA3330467 rs377749793	324	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs113234186 CA360289128	324	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA360289116 rs1270274053	325	L>V		No	ClinGen TOPMed gnomAD
rs1316521110 CA360289088	327	R>I		No	ClinGen gnomAD
rs766140292 CA3330450	328	K>E		No	ClinGen ExAC gnomAD
rs766028320 CA121378684	329	Y>C		No	ClinGen gnomAD
rs1367937343 CA360289059	329	Y>H		No	ClinGen gnomAD
rs766028320 CA121378686	329	Y>S		No	ClinGen gnomAD
CA360289047 rs1382285758	331	I>V		No	ClinGen gnomAD
rs955592782 CA121378682	333	H>R		No	ClinGen Ensembl
rs149926544 CA3330447	335	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs772942597 CA121378681	336	E>*		No	ClinGen Ensembl
rs1351367738 CA360289004	337	V>F		No	ClinGen TOPMed
TCGA novel	338	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1459268370 CA360288998	338	P>S		No	ClinGen gnomAD
CA360288979 rs147233411	341	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775615174 CA3330445	341	I>T		No	ClinGen ExAC TOPMed gnomAD
rs147233411 CA3330446	341	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3330444 rs146212467	342	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA3330443 rs759795766	343	W>C		No	ClinGen ExAC TOPMed gnomAD
rs1194071926 CA360288929	348	Q>K		No	ClinGen gnomAD
rs1299771831 CA360288768	349	A>T		No	ClinGen TOPMed
CA3330429 rs761776274	350	S>F		No	ClinGen ExAC gnomAD
CA360288701 rs1580538920	353	D>G		No	ClinGen Ensembl
rs994839608 CA121378440	355	N>D		No	ClinGen TOPMed
rs1234395714 CA360288667	355	N>S		No	ClinGen TOPMed
CA3330428 rs751515255	356	V>A		No	ClinGen ExAC gnomAD
CA121378438 rs1030837877	356	V>M		No	ClinGen TOPMed
rs1484203553 CA360288623	358	A>S		No	ClinGen TOPMed gnomAD
CA3330426 rs759543309	360	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1168405442 CA360288571	361	K>N		No	ClinGen gnomAD
rs1337980346 CA360288559	362	L>P		No	ClinGen gnomAD
rs1337980346 CA360288557	362	L>R		No	ClinGen gnomAD
rs1483725653 CA360288551	363	A>S		No	ClinGen TOPMed
COSM197037 rs560641833 CA3330424	364	A>S	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA360288536 rs1323894404	365	K>N		No	ClinGen gnomAD
CA360288538 rs1580538817	365	K>R		No	ClinGen Ensembl
CA3330423 rs139871526	366	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1266555677 CA360288526	367	G>C		No	ClinGen TOPMed
TCGA novel	369	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360288500 rs772385751	370	V>D		No	ClinGen ExAC gnomAD
CA3330421 rs772385751	370	V>G		No	ClinGen ExAC gnomAD
rs1452145842 CA360288498	371	T>A		No	ClinGen TOPMed
rs779301614 CA3330420	371	T>I		No	ClinGen ExAC gnomAD
rs779301614 CA3330419	371	T>N		No	ClinGen ExAC gnomAD
rs768145802 CA3330418	372	S>G		No	ClinGen ExAC gnomAD
CA360288491 rs1200732416	372	S>I		No	ClinGen TOPMed
rs150497513 CA3330417	373	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA360288488 rs150497513	373	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA3330416 rs779631742	374	V>L		No	ClinGen ExAC gnomAD
rs755738562 CA3330415	375	E>K		No	ClinGen ExAC gnomAD
CA3330414 rs201243215	376	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA360287714 rs1361829112	379	I>M		No	ClinGen TOPMed
rs752750653 CA3330388	380	Y>H		No	ClinGen ExAC gnomAD
rs1469490435 CA360287698	381	T>A		No	ClinGen TOPMed
CA360287678 rs1246674836	382	L>R		No	ClinGen gnomAD
TCGA novel	385	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3330386 rs756276958	385	H>Y		No	ClinGen ExAC
rs750592941 CA3330385	386	D>V		No	ClinGen ExAC gnomAD
CA3330384 rs767663717	387	V>I		No	ClinGen ExAC gnomAD
CA360287537 rs1317823573	389	S>A		No	ClinGen TOPMed gnomAD
CA360287419 rs1424642248	396	V>A		No	ClinGen gnomAD
rs764480644 CA3330381	396	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1383915336 CA360287408	397	G>E		No	ClinGen gnomAD
VAR_048193 rs10371 CA3330378	403	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA360287343 rs1191968197	403	A>V		No	ClinGen gnomAD
CA121377552 COSM1070747 rs564306951	405	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA3330376 rs576654714 COSM593264	405	R>H	lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA3330374 rs746716877	408	S>T		No	ClinGen ExAC TOPMed gnomAD
CA121377543 rs372394141	412	K>Q		No	ClinGen Ensembl
rs147623252 CA3330372	413	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs772051643 CA3330371	413	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1347600412 CA360287199	414	P>A		No	ClinGen gnomAD
rs748042477 CA3330370	414	P>L		No	ClinGen ExAC gnomAD
rs1347600412 CA360287201	414	P>T		No	ClinGen gnomAD
CA360287178 rs1418438633	415	L>F		No	ClinGen TOPMed
rs1248416375 CA360287183	415	L>S		No	ClinGen TOPMed
rs923749852 CA121377529	417	D>N		No	ClinGen TOPMed
rs756044212	417	D>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA360287088 rs1473674542	421	V>M		No	ClinGen TOPMed
rs1480954704 CA360286550	423	C>Y		No	ClinGen gnomAD
rs1018633711 CA121376653	424	E>Q		No	ClinGen TOPMed
CA360286522 rs1352771593	427	D>G		No	ClinGen TOPMed
rs778944434 CA3330351	428	W>*		No	ClinGen ExAC gnomAD
rs768692599 CA3330350	429	V>L		No	ClinGen ExAC gnomAD
rs768692599 CA360286510	429	V>M		No	ClinGen ExAC gnomAD
CA3330349 rs144410754	430	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781125976 CA3330348	430	S>T		No	ClinGen ExAC gnomAD
CA3330347 rs757413283	432	D>G		No	ClinGen ExAC gnomAD
rs1279383093 CA360286490	432	D>N		No	ClinGen TOPMed
CA360286477 rs1224682414	433	D>E		No	ClinGen gnomAD
CA360286484 rs1309677454	433	D>N		No	ClinGen gnomAD
rs1278228143 CA360286460	436	Y>F		No	ClinGen gnomAD
rs372830969 CA3330346	437	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3330345 rs755024401	438	I>V		No	ClinGen ExAC TOPMed gnomAD
rs758717890 CA3330344	441	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA360286423 rs543485003	442	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs543485003 CA3330343	442	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3330341 rs759960094	446	D>E		No	ClinGen ExAC gnomAD
rs765632918 CA3330342	446	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA360286392 rs765632918	446	D>V		No	ClinGen ExAC TOPMed gnomAD
CA3330340 rs143972820	447	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA360286388 rs1172126565	447	K>R		No	ClinGen TOPMed
CA121376625 rs267600715	448	P>L		No	ClinGen Ensembl
CA3330339 rs765750902	450	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3330338 rs760237266	452	V>I		No	ClinGen ExAC TOPMed gnomAD
CA3330337 rs369668324	453	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3330335 rs761607494	455	V>I		No	ClinGen ExAC TOPMed gnomAD
CA3330333 rs768561064	456	S>L		No	ClinGen ExAC TOPMed gnomAD
rs138502777 CA3330332	457	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA3330331 rs372168909	457	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
TCGA novel	459	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1248848793 CA360286316	459	K>R		No	ClinGen gnomAD
CA360286304 rs1384159317	461	L>F		No	ClinGen gnomAD
CA3330330 rs557892282	462	K>*		No	ClinGen 1000Genomes ExAC gnomAD
CA3330329 rs147089882	462	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA360286288 rs1580525761	463	D>E		No	ClinGen Ensembl
CA360286294 rs1348404860	463	D>N		No	ClinGen TOPMed
rs141598728 CA3330328	464	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA360286130 rs1374899074	466	T>S		No	ClinGen gnomAD
rs775247391 CA3330314	468	T>I		No	ClinGen ExAC TOPMed gnomAD
rs775247391 CA360286080	468	T>K		No	ClinGen ExAC TOPMed gnomAD
rs138825311 CA3330312	470	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA3330311 rs773278421	470	A>V		No	ClinGen ExAC gnomAD
rs80124231 CA3330310	473	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA360285991 rs1297031972	473	S>T		No	ClinGen TOPMed
CA360285970 rs1252608052	474	V>I		No	ClinGen gnomAD
CA360285937 rs1291303063	475	I>S		No	ClinGen TOPMed
CA360285950 rs1227511863	475	I>V		No	ClinGen gnomAD
rs76413188 CA121376058	476	L>F		No	ClinGen Ensembl
TCGA novel	477	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360285869 rs1275849476	478	S>L		No	ClinGen TOPMed gnomAD
CA3330304 rs756612770	479	V>D		No	ClinGen ExAC TOPMed gnomAD
CA3330305 rs780330791	479	V>L		No	ClinGen ExAC gnomAD
CA360285833 rs1298887948	480	P>R		No	ClinGen gnomAD
CA360285839 rs1398525016	480	P>S		No	ClinGen gnomAD
CA360285844 rs1398525016	480	P>T		No	ClinGen gnomAD
CA3330301 rs151004328	481	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs752709684	481	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767120910 CA360285822	481	P>S		No	ClinGen ExAC TOPMed gnomAD
rs767120910 CA3330302	481	P>T		No	ClinGen ExAC TOPMed gnomAD
CA121376032 rs1034591696	482	S>F		No	ClinGen TOPMed gnomAD
rs752709684	482	S>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1480986367 CA360285779	483	P>L		No	ClinGen TOPMed gnomAD
rs1197174637 CA360285768	484	Q>*		No	ClinGen gnomAD
rs550120613 CA121376028	485	Y>H		No	ClinGen TOPMed gnomAD
rs140336306 CA121376025	485	Y>S		No	ClinGen ESP gnomAD
TCGA novel	486	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs146713585 CA3330297	486	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA360285695 rs1255793537	487	R>G		No	ClinGen gnomAD
TCGA novel	487	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759459798 CA360285617	491	I>L		No	ClinGen ExAC gnomAD
rs776566743 CA3330293	491	I>T		No	ClinGen ExAC gnomAD
rs759459798 CA3330294	491	I>V		No	ClinGen ExAC gnomAD
rs1230783736 CA360285598	492	C>S		No	ClinGen gnomAD
rs143379740 CA3330290	494	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	497	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3330289 rs768902170	497	I>T		No	ClinGen ExAC gnomAD
CA3330288 rs749512697	500	I>F		No	ClinGen ExAC gnomAD
rs770338667 COSM174250 CA3330286	502	S>R	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA121376001 rs753174719	505	C>R		No	ClinGen Ensembl
rs1471328342 CA360285453	505	C>Y		No	ClinGen gnomAD
rs746317652	506	I>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA121375998 rs1036263654	506	I>V		No	ClinGen gnomAD
CA3330274 rs766326711	507	V>L		No	ClinGen ExAC gnomAD
rs377706612 CA121375889	508	S>P		No	ClinGen ESP
rs1215611043 CA360285424	508	S>Y		No	ClinGen gnomAD
CA121375885 rs374522724	509	Y>C		No	ClinGen ESP TOPMed gnomAD
CA3330272 rs374342286	510	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3330269 rs775587113	511	N>K		No	ClinGen ExAC TOPMed gnomAD
CA3330270 rs763221562	511	N>S		No	ClinGen ExAC gnomAD
CA3330271 rs768684275	511	N>Y		No	ClinGen ExAC TOPMed gnomAD
rs746264273 CA3330268	512	H>Q		No	ClinGen ExAC gnomAD
CA121375875 rs767778920	512	H>R		No	ClinGen Ensembl
rs1298041363 CA360285391	513	M>K		No	ClinGen gnomAD
rs781743795 CA3330266	515	A>S		No	ClinGen ExAC gnomAD
rs148630854 CA3330265	516	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148630854 CA3330264	516	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777328911 CA360285366	517	I>N		No	ClinGen ExAC gnomAD
CA3330263 rs777328911	517	I>S		No	ClinGen ExAC gnomAD
rs752330587 CA3330261	518	L>F		No	ClinGen ExAC TOPMed gnomAD
rs778568996 CA3330260	518	L>P		No	ClinGen ExAC gnomAD
rs376149948 COSM308819 CA3330259	520	Y>*	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
rs1045405347 CA121375855	521	F>L		No	ClinGen Ensembl
rs753609339 CA3330258	521	F>S		No	ClinGen ExAC TOPMed gnomAD
CA360285332 rs1487157070	523	G>E		No	ClinGen TOPMed gnomAD
rs760600444 CA3330256	524	N>D		No	ClinGen ExAC gnomAD
rs1387617833 CA360285307	527	G>D		No	ClinGen TOPMed
CA360285297 rs1338434038	528	W>C		No	ClinGen TOPMed
CA360285299 rs1450941455	528	W>L		No	ClinGen gnomAD
rs1287881727 CA360285293	529	S>A		No	ClinGen gnomAD
CA360285277 rs750383961	531	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1388945045 CA360285281	531	S>P		No	ClinGen TOPMed gnomAD
CA3330254 rs750383961	531	S>Y		No	ClinGen ExAC gnomAD
rs762945959 CA3330252	532	I>M		No	ClinGen ExAC gnomAD
CA3330253 rs536125060	532	I>T		No	ClinGen ExAC TOPMed gnomAD
rs935456105 CA121375837	533	E>K		No	ClinGen gnomAD
rs775737799 CA360285261	534	E>A		No	ClinGen ExAC TOPMed gnomAD
rs1436459272 CA360285258	534	E>D		No	ClinGen TOPMed gnomAD
rs775737799 CA360285260	534	E>G		No	ClinGen ExAC TOPMed gnomAD
rs775737799 CA3330251	534	E>V		No	ClinGen ExAC TOPMed gnomAD
CA121375833 rs765574953	536	A>P		No	ClinGen ExAC TOPMed gnomAD
CA3330250 rs765574953	536	A>S		No	ClinGen ExAC TOPMed gnomAD
rs142957507 CA3330249	536	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs771483296 CA3330247	537	A>G		No	ClinGen ExAC TOPMed gnomAD
rs532812999 CA3330248	537	A>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1211338680 CA360285244	538	S>P		No	ClinGen TOPMed
rs560879781 CA121375822	539	C>Y		No	ClinGen 1000Genomes gnomAD
CA121375817 rs540665090	540	I>T		No	ClinGen 1000Genomes
CA121375820 rs938139797	540	I>V		No	ClinGen TOPMed
rs1431221353 CA360285222	541	Q>R		No	ClinGen gnomAD
rs1487644485 CA360285208	543	L>S		No	ClinGen TOPMed
rs771572593 CA3330244	548	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3330242 rs778446106	549	D>N		No	ClinGen ExAC TOPMed gnomAD
CA360285167 rs778446106	549	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs754595354 CA3330241	550	G>R		No	ClinGen ExAC TOPMed gnomAD
CA3330240 rs749006398	552	V>A		No	ClinGen ExAC gnomAD
CA360285147 rs1465592419	552	V>L		No	ClinGen gnomAD
CA3330239 rs779809926	554	T>I		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q8WYK0

2 regional properties for Q8WYK0

Type	Name	Position	InterPro Accession
conserved_site	Aminoacyl-tRNA synthetase, class I, conserved site	42 - 52	IPR001412
domain	RNA-binding S4 domain	357 - 419	IPR002942

Functions

		Description
EC Number	3.1.2.1	Thiolester hydrolases
Subcellular Localization	Cytoplasm, cytosol
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 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.
intercellular bridge	A direct connection between the cytoplasm of two cells that is formed following the completion of cleavage furrow ingression during cell division. They are usually present only briefly prior to completion of cytokinesis. However, in some cases, such as the bridges between germ cells during their development, they become stabilised.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.

6 GO annotations of molecular function

Name	Definition
acetyl-CoA hydrolase activity	Catalysis of the reaction: acetyl-CoA + H(2)O = acetate + CoA + H(+).
acyl-CoA hydrolase activity	Catalysis of the reaction: acyl-CoA + H2O = CoA + a carboxylate.
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
carboxylic ester hydrolase activity	Catalysis of the hydrolysis of a carboxylic ester bond.
identical protein binding	Binding to an identical protein or proteins.
long-chain fatty acyl-CoA binding	Binding to a long-chain fatty acyl-CoA, any derivative of coenzyme A in which the sulfhydryl group is in a thioester linkage with a long-chain fatty-acyl group. Long-chain fatty-acyl-CoAs have chain lengths of C13 or more.

3 GO annotations of biological process

Name	Definition
acetyl-CoA metabolic process	The chemical reactions and pathways involving acetyl-CoA, a derivative of coenzyme A in which the sulfhydryl group is acetylated; it is a metabolite derived from several pathways (e.g. glycolysis, fatty acid oxidation, amino-acid catabolism) and is further metabolized by the tricarboxylic acid cycle. It is a key intermediate in lipid and terpenoid biosynthesis.
acyl-CoA metabolic process	The chemical reactions and pathways involving acyl-CoA, any derivative of coenzyme A in which the sulfhydryl group is in thiolester linkage with an acyl group.
fatty acid metabolic process	The chemical reactions and pathways involving fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis.

10 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3SWX2	ACOT9	Acyl-coenzyme A thioesterase 9, mitochondrial	Bos taurus (Bovine)	PR
Q9Y305	ACOT9	Acyl-coenzyme A thioesterase 9, mitochondrial	Homo sapiens (Human)	PR
O00154	ACOT7	Cytosolic acyl coenzyme A thioester hydrolase	Homo sapiens (Human)	PR
Q9R0X4	Acot9	Acyl-coenzyme A thioesterase 9, mitochondrial	Mus musculus (Mouse)	PR
Q32MW3	Acot10	Acyl-coenzyme A thioesterase 10, mitochondrial	Mus musculus (Mouse)	PR
Q91V12	Acot7	Cytosolic acyl coenzyme A thioester hydrolase	Mus musculus (Mouse)	PR
Q8VHQ9	Acot11	Acyl-coenzyme A thioesterase 11	Mus musculus (Mouse)	PR
Q9DBK0	Acot12	Acetyl-coenzyme A thioesterase	Mus musculus (Mouse)	PR
Q64559	Acot7	Cytosolic acyl coenzyme A thioester hydrolase	Rattus norvegicus (Rat)	PR
Q99NB7	Acot12	Acetyl-coenzyme A thioesterase	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MERPAPGEVV	MSQAIQPAHA	TARGELSAGQ	LLKWIDTTAC	LAAEKHAGVS	CVTASVDDIQ
70	80	90	100	110	120
FEETARVGQV	ITIKAKVTRA	FSTSMEISIK	VMVQDMLTGI	EKLVSVAFST	FVAKPVGKEK
130	140	150	160	170	180
IHLKPVTLLT	EQDHVEHNLA	AERRKVRLQH	EDTFNNLMKE	SSKFDDLIFD	EEEGAVSTRG
190	200	210	220	230	240
TSVQSIELVL	PPHANHHGNT	FGGQIMAWME	TVATISASRL	CWAHPFLKSV	DMFKFRGPST
250	260	270	280	290	300
VGDRLVFTAI	VNNTFQTCVE	VGVRVEAFDC	QEWAEGRGRH	INSAFLIYNA	ADDKENLITF
310	320	330	340	350	360
PRIQPISKDD	FRRYRGAIAR	KRIRLGRKYV	ISHKEEVPLC	IHWDISKQAS	LSDSNVEALK
370	380	390	400	410	420
KLAAKRGWEV	TSTVEKIKIY	TLEEHDVLSV	WVEKHVGSPA	HLAYRLLSDF	TKRPLWDPHF
430	440	450	460	470	480
VSCEVIDWVS	EDDQLYHITC	PILNDDKPKD	LVVLVSRRKP	LKDGNTYTVA	VKSVILPSVP
490	500	510	520	530	540
PSPQYIRSEI	ICAGFLIHAI	DSNSCIVSYF	NHMSASILPY	FAGNLGGWSK	SIEETAASCI
550
QFLENPPDDG	FVSTF