AiPD: Autoinhibited Protein Database

Q969S8

Gene name	HDAC10
Protein name	Polyamine deacetylase HDAC10
Names	Histone deacetylase 10, HD10
Species	Homo sapiens (Human)
KEGG Pathway	hsa:83933
EC number	3.5.1.48: In linear amides
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

332-401 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

332-401 (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 Q969S8

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q969S8-F1	Predicted				AlphaFoldDB

679 variants for Q969S8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA10310132 rs373306603	2	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA10310133 rs373306603	2	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA412129097 rs1417718854	6	V>L		No	ClinGen TOPMed gnomAD
rs1343025342 CA412129081	7	Y>C		No	ClinGen TOPMed gnomAD
CA412129047 rs988481660	9	E>D		No	ClinGen TOPMed gnomAD
rs1445401937 CA412129057	9	E>Q		No	ClinGen gnomAD
rs1224387642 CA412129044	10	D>N		No	ClinGen TOPMed
CA10310128 rs760597316	11	M>I		No	ClinGen ExAC TOPMed gnomAD
rs531299630 CA10310131	11	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10310129 rs763825090	11	M>T		No	ClinGen ExAC gnomAD
rs531299630 CA10310130	11	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs147929426 CA10310126	12	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10310127 rs147929426	12	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1429968971 CA412128988	14	T>I		No	ClinGen TOPMed gnomAD
rs542194192 CA10310124	15	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769772265 CA10310123	17	L>F		No	ClinGen ExAC gnomAD
CA412128945 rs1419352946	18	W>C		No	ClinGen gnomAD
CA325496548 rs929146386	20	D>G		No	ClinGen Ensembl
CA412128864 rs1262339510	21	P>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA412128858 rs1601633363	21	P>L		No	ClinGen Ensembl
CA412128832 rs1330779951	23	C>Y		No	ClinGen gnomAD
rs759311800 CA10310106	25	I>M		No	ClinGen ExAC TOPMed gnomAD
rs146669691 CA10310104	28	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA412128771 rs1390337916	28	P>T		No	ClinGen gnomAD
rs770892230 CA10310103	29	E>A		No	ClinGen ExAC gnomAD
CA10310102 rs748221994	29	E>D		No	ClinGen ExAC gnomAD
rs1357873082 CA412128757	30	R>L		No	ClinGen gnomAD
TCGA novel	32	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412128741 rs1458055959	33	A>S		No	ClinGen gnomAD
CA412128743 rs1458055959	33	A>T		No	ClinGen gnomAD
CA412128737 rs1601633302	34	A>S		No	ClinGen Ensembl
CA10310098 rs145717240 CA10310099	36	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA325496464 rs778584488	36	D>G		No	ClinGen Ensembl
CA325496466 rs370995976	36	D>H		No	ClinGen ESP
CA10310097 rs758693077	37	R>H		No	ClinGen ExAC TOPMed gnomAD
CA412128718 rs758693077	37	R>L		No	ClinGen ExAC TOPMed gnomAD
CA10310096 rs746238527	39	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA412128711 rs1183661007	39	R>W		No	ClinGen gnomAD
rs757751469 CA10310094	41	R>C		No	ClinGen ExAC gnomAD
rs1466051194 CA412128695	42	G>S		No	ClinGen gnomAD
CA412128686 rs1321934336	43	L>P		No	ClinGen gnomAD
CA10310091 rs200670896	43	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs752405222 CA10310090	44	E>*		No	ClinGen ExAC TOPMed gnomAD
CA412128679 rs377731358	44	E>D		No	ClinGen ESP TOPMed gnomAD
CA412128685 rs752405222	44	E>K		No	ClinGen ExAC TOPMed gnomAD
rs752405222 CA412128684	44	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1369304799 CA412128672	45	Q>H		No	ClinGen TOPMed
CA412128678 rs1381261088	45	Q>K		No	ClinGen gnomAD
CA412128669 rs1436428726	46	R>K		No	ClinGen gnomAD
CA10310088 rs767278167	46	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1287484977 CA412128661	47	C>Y		No	ClinGen gnomAD
CA412128653 rs751343126	48	L>P		No	ClinGen ExAC TOPMed gnomAD
rs751343126 CA10310086	48	L>R		No	ClinGen ExAC TOPMed gnomAD
CA10310085 rs376109598	49	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA412128636 rs1384559136	51	S>L		No	ClinGen gnomAD
CA10310083 rs773086569	53	R>C		No	ClinGen ExAC gnomAD
CA412128627 rs1272372644	53	R>H		No	ClinGen TOPMed
CA412128628 rs773086569	53	R>S		No	ClinGen ExAC gnomAD
CA10310079 rs772325030	54	E>*		No	ClinGen ExAC TOPMed gnomAD
CA10310078 rs746257931	54	E>D		No	ClinGen ExAC gnomAD
CA10310080 rs772325030	54	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10310076 rs771151012	56	S>*		No	ClinGen ExAC TOPMed gnomAD
rs1488604639 CA412128611	56	S>A		No	ClinGen gnomAD
rs771151012 CA10310077	56	S>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	58	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778355683 CA10310074	59	E>G		No	ClinGen ExAC gnomAD
rs1358163648 CA412128593	59	E>K		No	ClinGen gnomAD
rs947893289 CA325496393	61	G>R		No	ClinGen TOPMed gnomAD
rs947893289 CA412128581	61	G>S		No	ClinGen TOPMed gnomAD
rs1293899918 CA412128566	63	V>G		No	ClinGen TOPMed gnomAD
rs781035682 CA10310071	64	H>R		No	ClinGen ExAC gnomAD
CA10310072 rs752237682	64	H>Y		No	ClinGen ExAC gnomAD
CA412128556 rs1170052062	65	S>N		No	ClinGen TOPMed
CA412128555 rs1170052062	65	S>T		No	ClinGen TOPMed
rs1359765715 CA412128540	66	P>T		No	ClinGen gnomAD
rs142006720 CA10310041	67	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs12169695 CA325496189	71	L>V		No	ClinGen ExAC gnomAD
CA412128498 rs1187625060	73	R>G		No	ClinGen gnomAD
rs376758414 CA412128491	74	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA10310039 rs376758414	74	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1461182265 CA412128471	76	Q>H		No	ClinGen gnomAD
rs1202192070 CA412128474	76	Q>R		No	ClinGen gnomAD
rs1269127383 CA412128470	77	V>I		No	ClinGen TOPMed gnomAD
rs1269127383 CA412128469	77	V>L		No	ClinGen TOPMed gnomAD
rs763456852 CA10310038	79	G>D		No	ClinGen ExAC gnomAD
rs1393668570 CA412128459	79	G>S		No	ClinGen gnomAD
rs148308549 CA10310036	80	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748690794 CA412128446	81	E>*		No	ClinGen ExAC TOPMed gnomAD
CA10310035 rs748690794	81	E>K		No	ClinGen ExAC TOPMed gnomAD
rs186782930 CA412128415	85	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs186782930 CA10310034	85	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs779815335 CA10310031	86	L>P		No	ClinGen ExAC gnomAD
CA325496165 CA325496162 rs1006054475	88	G>R		No	ClinGen TOPMed gnomAD
CA412128400 rs1348685120	89	Q>K		No	ClinGen TOPMed
rs756987194 CA412128379	91	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA325496157 rs865787379	91	D>Y		No	ClinGen Ensembl
rs753817301 CA10310025 COSM1209371	92	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA10310024 rs763931664	93	I>F		No	ClinGen ExAC gnomAD
rs368162152 CA412128370	93	I>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368162152 CA10310023	93	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA412128371 rs763931664	93	I>V		No	ClinGen ExAC gnomAD
rs544052772 CA10310022	96	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763302996	97	P>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA412128344 rs1210536214	97	P>A		No	ClinGen gnomAD
rs377256255 CA10310021	97	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA412128342 rs1210536214	97	P>S		No	ClinGen gnomAD
rs1306831147 CA412127953	98	S>G		No	ClinGen gnomAD
rs770545624 CA10309991	98	S>T		No	ClinGen ExAC gnomAD
CA412127934 rs1601630936	99	T>P		No	ClinGen Ensembl
rs548926197 CA325494804	101	H>R		No	ClinGen TOPMed gnomAD
rs1601630923 CA412127892	101	H>Y		No	ClinGen Ensembl
CA412127880 rs538020281	102	C>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA412127886 rs1228601775	102	C>S		No	ClinGen gnomAD
CA412127878 rs200223518	103	A>S		No	ClinGen ExAC TOPMed gnomAD
CA10309988 rs200223518	103	A>T		No	ClinGen ExAC TOPMed gnomAD
CA10309987 rs143228101	103	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA412127872 rs758620639	104	R>G		No	ClinGen ExAC TOPMed gnomAD
rs750519831 CA10309984	104	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs758620639 CA10309985	104	R>W		No	ClinGen ExAC TOPMed gnomAD
rs779328803 CA10309983	105	L>V		No	ClinGen ExAC gnomAD
CA325494787 rs773955276	106	A>P		No	ClinGen Ensembl
rs981565329 CA325494780	106	A>V		No	ClinGen Ensembl
CA10309981 rs149121852	107	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA10309980 rs149121852	107	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1237941857 CA412127845	108	G>R		No	ClinGen gnomAD
CA10309979 rs761034142	109	A>P		No	ClinGen ExAC TOPMed gnomAD
CA412127836 rs761034142	109	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1555912411 CA412127825	110	G>E		No	ClinGen Ensembl
rs1459853283 CA412127826	110	G>R		No	ClinGen gnomAD
rs1173273384 CA412127810	112	Q>E		No	ClinGen TOPMed
rs773816736 CA10309975	113	L>P		No	ClinGen ExAC TOPMed gnomAD
rs759092234 CA10309976	113	L>V		No	ClinGen ExAC gnomAD
CA412127771 rs1569137019	115	D>H		No	ClinGen Ensembl
rs1389114026 CA412127758	116	A>P		No	ClinGen TOPMed
rs1389114026 CA412127757	116	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA10309972 rs199906150	117	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs562621796 CA10309971	118	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747973574 CA10309970	120	G>A		No	ClinGen ExAC TOPMed gnomAD
rs1457974680 CA412127682	121	A>V		No	ClinGen gnomAD
TCGA novel	124	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10309968 rs768694539	125	G>E		No	ClinGen ExAC gnomAD
CA412127629 rs768694539	125	G>V		No	ClinGen ExAC gnomAD
rs924135314 CA325494742	126	L>F		No	ClinGen TOPMed
CA412127517 rs1233254098	131	P>L		No	ClinGen TOPMed
rs777904530 CA10309945	131	P>S		No	ClinGen ExAC gnomAD
rs777904530 CA10309946	131	P>T		No	ClinGen ExAC gnomAD
rs756324746 CA10309944	132	P>L		No	ClinGen ExAC gnomAD
rs1228769869 CA412127513	132	P>S		No	ClinGen gnomAD
CA10309942 rs145098215	133	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA412127489 rs1601630253	134	H>P		No	ClinGen Ensembl
CA412127466 rs1305037977	136	G>D		No	ClinGen gnomAD
CA325494574 rs778778691	138	R>S		No	ClinGen Ensembl
rs115099639 CA10309940	139	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA325494569 rs896970280	140	A>P		No	ClinGen TOPMed
rs752069436 CA10309939	142	N>S		No	ClinGen ExAC gnomAD
CA10309937 rs757906225	143	G>R		No	ClinGen ExAC gnomAD
rs1473706458 CA412127373	145	C>R		No	ClinGen TOPMed
CA412127362 rs1555048	145	C>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764839278 CA10309935	146	V>M		No	ClinGen ExAC gnomAD
CA412127338 rs1569136802	148	N>H		No	ClinGen Ensembl
rs201709469 CA10309931	150	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs201709469 CA10309932	150	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA325494491 rs572231833	151	A>V		No	ClinGen gnomAD
CA325494482 rs1045919963	155	A>T		No	ClinGen gnomAD
CA10309928 rs560598713	156	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs368728482 CA10309929	156	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs769811862 CA10309926	157	A>D		No	ClinGen ExAC gnomAD
CA412127246 rs1345036682	157	A>T		No	ClinGen gnomAD
rs769811862 CA412127242	157	A>V		No	ClinGen ExAC gnomAD
rs748379053 CA10309925	158	K>R		No	ClinGen ExAC gnomAD
CA412127232 rs1297421261	159	Q>*		No	ClinGen gnomAD
rs781328750 CA10309924	160	K>R		No	ClinGen ExAC gnomAD
CA412127213 rs769079660	161	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs377561552 CA10309922	162	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA412127203 rs1407629547	163	L>P		No	ClinGen TOPMed
rs750856870 CA10309919	164	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA10309899 rs756884230	165	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1045973968 CA325494172	166	I>F		No	ClinGen TOPMed gnomAD
rs1201914857 CA412127168	167	L>P		No	ClinGen TOPMed
CA10309897 rs777606755	168	V>I		No	ClinGen ExAC TOPMed gnomAD
rs372385714 CA325494147	169	V>M		No	ClinGen ESP TOPMed gnomAD
CA10309895 rs752240088	172	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA412127119 rs1262590879	174	H>Q		No	ClinGen TOPMed gnomAD
CA325494126 rs1019549869	174	H>R		No	ClinGen TOPMed
CA412127123 rs1445485176	174	H>Y		No	ClinGen TOPMed gnomAD
rs1223236424 CA412127116	175	H>Y		No	ClinGen gnomAD
rs767356391 CA10309894	176	G>S		No	ClinGen ExAC gnomAD
rs1404352996 CA412127105	177	Q>*		No	ClinGen TOPMed
CA412127101 rs1289444326	177	Q>R		No	ClinGen gnomAD
CA10309892 rs751584968	178	G>R		No	ClinGen ExAC gnomAD
CA10309890 rs761933488	180	Q>H		No	ClinGen ExAC gnomAD
rs764120638 CA10309888	181	Y>*		No	ClinGen ExAC gnomAD
rs776664930 CA10309889	181	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA412127070 rs1406194492	182	L>F		No	ClinGen gnomAD
TCGA novel	183	F>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10309887 rs539026867	184	E>A		No	ClinGen 1000Genomes ExAC gnomAD
CA412127048 rs1236306422	185	D>G		No	ClinGen gnomAD
CA10309886 rs34437225	185	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1201334468 COSM1190492 CA412127037 CA412127038	186	D>E	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA10309885 rs772491912	188	S>T		No	ClinGen ExAC gnomAD
CA10309854 rs201310751	189	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA412126997 rs1376716054	191	Y>F		No	ClinGen gnomAD
rs1001543055 CA325493873	191	Y>H		No	ClinGen Ensembl
rs1471079879 CA412126993	192	F>L		No	ClinGen gnomAD
CA10309849 rs139503758	196	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA325493850 rs957112735	196	R>H		No	ClinGen TOPMed gnomAD
rs778712655 CA10309848	197	Y>C		No	ClinGen ExAC gnomAD
rs1175478459 CA412126957	197	Y>H		No	ClinGen gnomAD
CA10309846 rs752685925	198	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	200	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs367967613 CA10309845	201	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA412126929 rs1216038340	201	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs555667885 CA325493802	203	W>*		No	ClinGen 1000Genomes gnomAD
CA412126910 rs751770124	204	P>A		No	ClinGen ExAC gnomAD
rs766850932 CA412126908	204	P>H		No	ClinGen ExAC TOPMed gnomAD
rs766850932 CA10309842	204	P>L		No	ClinGen ExAC TOPMed gnomAD
rs751770124 CA10309843	204	P>S		No	ClinGen ExAC gnomAD
CA412126909 rs751770124	204	P>T		No	ClinGen ExAC gnomAD
rs763403823 CA10309841	205	F>S		No	ClinGen ExAC gnomAD
rs1302523556 CA412126899	206	L>V		No	ClinGen gnomAD
CA325493780 rs1037240982	207	R>*		No	ClinGen TOPMed gnomAD
CA412126893 rs1162083285	207	R>Q		No	ClinGen TOPMed gnomAD
rs770182355 CA10309839	208	E>Q		No	ClinGen ExAC gnomAD
CA412126864 rs1347097280	211	A>V		No	ClinGen gnomAD
CA412126854 rs374381598	213	A>S		No	ClinGen ESP ExAC gnomAD
rs374381598 CA10309837	213	A>T		No	ClinGen ESP ExAC gnomAD
rs117636118 CA10309833	216	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10309834 rs779615440	216	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs745650779 CA10309832	217	G>E		No	ClinGen ExAC gnomAD
CA412126817 rs1239877742	218	Q>H		No	ClinGen gnomAD
CA412126805 rs1353645375	219	G>V		No	ClinGen gnomAD
rs753759493 CA10309829	221	G>D		No	ClinGen ExAC TOPMed gnomAD
CA10309830 rs757170869	221	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA412126760 rs1364265859	224	V>I		No	ClinGen TOPMed gnomAD
rs781144355 CA10309828	225	N>S		No	ClinGen ExAC gnomAD
CA412126726 rs1399430055	227	P>S		No	ClinGen gnomAD
CA412126712 rs1456329106	228	W>*		No	ClinGen gnomAD
CA412126717 rs1304922730	228	W>G		No	ClinGen gnomAD
rs751893888 CA10309826	229	N>H		No	ClinGen ExAC TOPMed gnomAD
rs766692615 CA10309825	229	N>K		No	ClinGen ExAC TOPMed gnomAD
rs763463142 CA10309824	230	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs953660706 CA325493674	230	Q>H		No	ClinGen Ensembl
rs528925327 CA325493461	232	G>V		No	ClinGen TOPMed
rs765537698 CA10309801	233	M>I		No	ClinGen ExAC TOPMed gnomAD
CA412126165 rs1374453723	234	G>R		No	ClinGen gnomAD
TCGA novel	235	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754370850 CA10309799	236	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA412126105 rs1407793227	238	Y>F		No	ClinGen gnomAD
rs201305595 CA10309797	239	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201305595 CA10309796	239	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10309795 rs144393433	240	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA412126066 rs1442074197	242	F>L		No	ClinGen gnomAD
CA412126035 rs1178344518	244	H>Q		No	ClinGen TOPMed gnomAD
CA10309793 rs201929840	244	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	247	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773985921 CA10309792	248	P>A		No	ClinGen ExAC gnomAD
CA10309791 rs528268077	248	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs773985921 CA412126005	248	P>S		No	ClinGen ExAC gnomAD
CA10309789 rs773068953	250	A>T		No	ClinGen ExAC gnomAD
rs143033632 CA10309788	250	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA10309787 rs780307636	252	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1173179819 CA412125885	254	D>N		No	ClinGen gnomAD
rs1423025145 CA412125862	255	P>L		No	ClinGen gnomAD
CA10309757 rs11553698	256	E>*		No	ClinGen ExAC gnomAD
CA10309756 rs765763378	256	E>G		No	ClinGen ExAC gnomAD
CA10309755 rs762691781	258	V>A		No	ClinGen ExAC gnomAD
CA412125818 rs1347515482	259	L>P		No	ClinGen TOPMed
rs1407440534 CA412125820	259	L>V		No	ClinGen gnomAD
rs199648733 COSM1194158 CA10309753	261	S>L	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA412125789 rs1196379510	262	A>T		No	ClinGen gnomAD
rs776768158 CA10309751	263	G>V		No	ClinGen ExAC gnomAD
rs759577793 CA10309749	265	D>E		No	ClinGen ExAC gnomAD
rs775668209 CA325493106	266	S>L		No	ClinGen TOPMed
CA412125729 rs774510785	267	A>D		No	ClinGen ExAC TOPMed gnomAD
CA10309748 rs774510785	267	A>V		No	ClinGen ExAC TOPMed gnomAD
CA412125723 rs1424812783	268	I>V		No	ClinGen TOPMed gnomAD
rs760485108 CA325493099	269	G>A		No	ClinGen TOPMed
rs777967266 CA10309745	269	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1336786297 CA412125703	270	D>N		No	ClinGen gnomAD
rs781691174 CA10309743	271	P>A		No	ClinGen ExAC gnomAD
rs781691174 CA10309742	271	P>T		No	ClinGen ExAC gnomAD
CA10309740 rs751964114	272	E>D		No	ClinGen ExAC gnomAD
COSM1035380 CA412125634 rs1450464439	273	G>E	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs568084821 CA10309727	274	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1156744929 CA412125610	275	M>I		No	ClinGen gnomAD
rs748326060 CA10309726	275	M>T		No	ClinGen ExAC gnomAD
COSM1682365 CA325492991 rs553257236	278	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes gnomAD
CA325492972 rs567046837	280	E>G		No	ClinGen Ensembl
CA325492969 rs373249592	281	C>F		No	ClinGen Ensembl
CA412125526 rs377073755	282	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA412125525 rs1236390633	283	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA412125513 rs1215834500	284	H>L		No	ClinGen gnomAD
CA10309722 rs780424827	285	L>P		No	ClinGen ExAC TOPMed gnomAD
rs917052122 CA325492945	287	Q>*		No	ClinGen TOPMed gnomAD
CA412125485 rs1234974531	287	Q>R		No	ClinGen TOPMed
CA412125477 rs1353527019	288	L>V		No	ClinGen gnomAD
CA412125471 rs1479895671	289	L>M		No	ClinGen TOPMed
CA325492941 rs770487337	290	Q>*		No	ClinGen gnomAD
CA325492939 rs867840687	290	Q>R		No	ClinGen Ensembl
CA10309720 rs373887940	292	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA325492928 rs866124770	293	A>V		No	ClinGen Ensembl
rs202169873 COSM3424266 CA10309718	294	G>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1296336252 CA412125409	295	G>D		No	ClinGen gnomAD
CA325492919 rs932642694	295	G>S		No	ClinGen TOPMed gnomAD
rs752737416 CA325492909	296	R>L		No	ClinGen ExAC gnomAD
rs752737416 CA10309714	296	R>Q		No	ClinGen ExAC gnomAD
rs755856003 CA10309715	296	R>W		No	ClinGen ExAC TOPMed gnomAD
CA412125385 rs113918787	297	V>A		No	ClinGen gnomAD
CA325492908 rs113918787	297	V>D		No	ClinGen gnomAD
CA412125383 rs113918787	297	V>G		No	ClinGen gnomAD
CA325492905 rs866894987	299	A>V		No	ClinGen Ensembl
CA10309711 rs375798796	300	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs375798796 CA412125343	300	V>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10309712 rs200544896	300	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA412125338 rs1215162137	301	L>P		No	ClinGen gnomAD
rs1266432392 CA412125313	302	E>D		No	ClinGen gnomAD
CA10309710 rs765249993	302	E>Q		No	ClinGen ExAC gnomAD
rs748720875 CA10309680	303	G>D		No	ClinGen ExAC TOPMed gnomAD
CA10309681 rs770620569	303	G>R		No	ClinGen ExAC gnomAD
CA412125168 rs770620569	303	G>S		No	ClinGen ExAC gnomAD
CA10309678 rs138792486	304	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA325492695 rs921239547	306	H>Q		No	ClinGen Ensembl
rs780977534 CA10309676	309	S>L		No	ClinGen ExAC gnomAD
rs373225487 CA10309674	311	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1601625617 CA412124968	313	S>A		No	ClinGen Ensembl
rs757377111 CA10309672	315	C>G		No	ClinGen ExAC gnomAD
CA412124882 rs1284882304	316	M>I		No	ClinGen TOPMed
rs1242111707 CA412124915	316	M>L		No	ClinGen TOPMed gnomAD
CA412124911 rs1242111707	316	M>V		No	ClinGen TOPMed gnomAD
CA10309671 rs753834561	318	V>I		No	ClinGen ExAC gnomAD
rs369223287 CA10309670	320	T>M		No	ClinGen ExAC TOPMed gnomAD
CA412124743 rs1300497917	323	G>D		No	ClinGen TOPMed gnomAD
CA10309668 rs779620715	324	D>E		No	ClinGen ExAC TOPMed gnomAD
CA325492652 rs988324216	325	P>A		No	ClinGen Ensembl
CA10309667 rs768057797	325	P>L		No	ClinGen ExAC gnomAD
rs903068411 CA325492614	328	P>S		No	ClinGen TOPMed gnomAD
CA412124643 rs903068411	328	P>T		No	ClinGen TOPMed gnomAD
CA10309663 rs369323956	329	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs369323956 CA10309664	329	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1031427692 CA325492578	331	G>E		No	ClinGen TOPMed
CA10309661 rs772619629	332	P>R		No	ClinGen ExAC gnomAD
CA325492573 rs878902135	333	M>T		No	ClinGen Ensembl
CA10309660 rs141840429	333	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA412124551 rs1156239816	334	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA10309659 rs184151274	334	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10309654 rs148078988	336	C>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA10309655 rs148078988	336	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA10309653 rs758302637	338	S>N		No	ClinGen ExAC gnomAD
CA10309625 rs750951494	339	A>V		No	ClinGen ExAC gnomAD
CA10309624 rs765754391	340	L>V		No	ClinGen ExAC TOPMed gnomAD
CA10309622 rs776150306	343	I>M		No	ClinGen ExAC gnomAD
rs763550305 CA10309621	344	Q>R		No	ClinGen ExAC gnomAD
rs760336831 CA10309620	346	A>T		No	ClinGen ExAC gnomAD
CA10309619 rs775058529	347	R>C		No	ClinGen ExAC TOPMed gnomAD
rs771817625 CA10309618	347	R>H		No	ClinGen ExAC TOPMed gnomAD
rs771817625 CA412124170	347	R>L		No	ClinGen ExAC TOPMed gnomAD
CA412124192 rs775058529	347	R>S		No	ClinGen ExAC TOPMed gnomAD
CA10309617 rs745649891	348	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1333203256 CA412124125	349	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA412124070 rs866541358	351	A>D		No	ClinGen gnomAD
CA10309615 rs774191628	351	A>T		No	ClinGen ExAC gnomAD
CA325492322 rs866541358	351	A>V		No	ClinGen gnomAD
COSM3379395 CA10309613 rs749187968	352	P>L	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA10309611 rs755040714	353	H>Q		No	ClinGen ExAC gnomAD
CA325492320 rs1039988761	353	H>R		No	ClinGen Ensembl
CA10309610 rs780311015	354	W>*		No	ClinGen ExAC TOPMed gnomAD
rs780311015 CA10309609	354	W>C		No	ClinGen ExAC TOPMed gnomAD
CA412123378 rs1478937189	354	W>R		No	ClinGen gnomAD
rs758739986 CA412123322	356	S>N		No	ClinGen ExAC gnomAD
CA412123314 rs1170668818	356	S>R		No	ClinGen TOPMed
CA10309608 rs758739986	356	S>T		No	ClinGen ExAC gnomAD
rs750770304 CA10309607	358	Q>E		No	ClinGen ExAC gnomAD
rs1374484636 CA412123248	360	Q>P		No	ClinGen TOPMed
TCGA novel	360	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412123157 rs1362235768	361	D>E		No	ClinGen gnomAD
CA412123154 rs773332826	362	V>L		No	ClinGen ExAC TOPMed gnomAD
CA10309577 rs773332826	362	V>M		No	ClinGen ExAC TOPMed gnomAD
rs769826411 CA10309576	363	T>A		No	ClinGen ExAC gnomAD
rs761615631 CA10309575	363	T>I		No	ClinGen ExAC gnomAD
CA412123120 rs541010302	364	A>P		No	ClinGen 1000Genomes ExAC gnomAD
CA10309573 rs541010302	364	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
TCGA novel	364	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10309572 rs374905738	366	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs749618183 CA10309569	367	M>I		No	ClinGen ExAC gnomAD
rs771345093 CA412123073	367	M>K		No	ClinGen ExAC TOPMed gnomAD
rs771345093 CA10309570	367	M>T		No	ClinGen ExAC TOPMed gnomAD
rs778069867 CA10309568	368	S>N		No	ClinGen ExAC
CA10309566 rs1345880867	370	S>G		No	ClinGen TOPMed
rs1345880867 CA10309565	370	S>R		No	ClinGen TOPMed
CA10309564 rs756632012	370	S>T		No	ClinGen ExAC gnomAD
rs1290937002 CA412122990	372	H>Y		No	ClinGen gnomAD
rs202077316 CA10309562	374	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1281244726 CA412122917	375	E>D		No	ClinGen TOPMed
rs780756630 CA10309561	376	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1292689981 CA412122870	378	P>L		No	ClinGen gnomAD
rs1400563463 CA412122868	379	P>S		No	ClinGen gnomAD
CA325492115 rs751281854	380	P>H		No	ClinGen ExAC gnomAD
CA10309559 rs751281854	380	P>L		No	ClinGen ExAC gnomAD
CA10309560 rs147013823	380	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs758310136 CA10309557	383	P>T		No	ClinGen ExAC TOPMed gnomAD
rs765075902 CA10309555	384	G>V		No	ClinGen ExAC gnomAD
CA412122785 rs1416538841	385	G>D		No	ClinGen gnomAD
CA412122781 rs1193692437	386	P>T		No	ClinGen gnomAD
CA412122770 rs1478450590	387	V>M		No	ClinGen TOPMed gnomAD
CA325492060 rs925361721	389	K>M		No	ClinGen Ensembl
CA10309552 rs376516708	389	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA412122722 rs1601624388	390	A>T		No	ClinGen Ensembl
rs560148776 CA325492037	392	A>P		No	ClinGen ExAC TOPMed gnomAD
rs560148776 CA10309551	392	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs749458801 CA10309548	393	S>T		No	ClinGen ExAC gnomAD
rs915740664 CA325492006	394	A>V		No	ClinGen TOPMed
CA412122667 rs147831258	395	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA10309545 rs147831258	395	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs138377809 CA10309546	395	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779673425 CA10309541	400	D>A		No	ClinGen ExAC gnomAD
rs758146735 CA10309540	401	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA10309538 rs145947789	402	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA412122611 rs145947789	402	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA10309539 rs145947789	402	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA10309537 rs757002914	403	C>G		No	ClinGen ExAC TOPMed gnomAD
rs1168963513 CA412122557	407	A>E		No	ClinGen TOPMed gnomAD
rs760617656 CA10309534	407	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1168963513 CA412122558	407	A>V		No	ClinGen TOPMed gnomAD
rs774435168 CA10309533	408	P>S		No	ClinGen ExAC gnomAD
rs774435168 CA325491943	408	P>T		No	ClinGen ExAC gnomAD
CA10309532 rs766384118	409	S>C		No	ClinGen ExAC gnomAD
rs149070120 CA10309531	411	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA412122524 rs144952453	411	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10309530 rs144952453	411	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA325491924 rs144952453	411	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748436922 CA10309528	413	A>T		No	ClinGen ExAC gnomAD
CA10309527 rs777233310	415	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs112311672 CA10309525	418	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA325491891 rs200930805	419	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10309522 rs200930805	419	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs534989039 CA10309523	419	P>T		No	ClinGen 1000Genomes ExAC gnomAD
rs891354162 CA325491875	420	D>G		No	ClinGen gnomAD
TCGA novel	420	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412122434 rs891354162	420	D>V		No	ClinGen gnomAD
CA10309518 rs777573263	421	I>M		No	ClinGen ExAC TOPMed gnomAD
CA10309519 rs35491456	421	I>S		No	ClinGen ExAC gnomAD
CA10309520 rs373234995	421	I>V		No	ClinGen ESP ExAC gnomAD
rs756014040 CA10309517	422	T>A		No	ClinGen ExAC TOPMed gnomAD
rs759760054 CA10309515	423	L>W		No	ClinGen ExAC gnomAD
rs1176054988 CA412122395	424	V>F		No	ClinGen gnomAD
TCGA novel	425	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412122373 rs1374618018	426	P>S		No	ClinGen TOPMed
rs750690429 CA325491844	427	P>A		No	ClinGen ExAC gnomAD
rs765344720 CA10309512	427	P>L		No	ClinGen ExAC TOPMed gnomAD
rs750690429 CA10309513	427	P>S		No	ClinGen ExAC gnomAD
VAR_049356 rs34402301 CA10309508	429	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA10309506 rs761270255	430	I>M		No	ClinGen ExAC gnomAD
rs548780105 CA10309507	430	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA412122323 rs1205689485	431	Q>*		No	ClinGen TOPMed
rs1483599784 CA412122307	432	Q>L		No	ClinGen TOPMed gnomAD
rs1483599784 CA412122303	432	Q>R		No	ClinGen TOPMed gnomAD
rs761795614 CA325491806	434	A>T		No	ClinGen TOPMed gnomAD
CA10309505 rs139748706 COSM1308285	434	A>V	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA412122260 rs1241904586	436	A>T		No	ClinGen gnomAD
rs778671841 CA10309502	438	R>K		No	ClinGen ExAC TOPMed gnomAD
CA412122225 rs1315442800	439	E>G		No	ClinGen TOPMed gnomAD
CA10309501 rs770509192	439	E>K		No	ClinGen ExAC gnomAD
CA412122217 rs1433331267	440	E>Q		No	ClinGen gnomAD
TCGA novel	441	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA325491791 rs922820105	442	E>K		No	ClinGen TOPMed
rs777432792 CA10309499	443	A>T		No	ClinGen ExAC gnomAD
CA325491660 rs1001485241	446	R>S		No	ClinGen TOPMed
rs1444588184 CA412122067	449	E>K		No	ClinGen gnomAD
rs1444588184 CA412122066	449	E>Q		No	ClinGen gnomAD
CA412122024 rs368996529	453	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA412122019 rs762501392	453	R>L		No	ClinGen ExAC TOPMed gnomAD
CA10309462 rs762501392	453	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10309463 rs368996529 COSM3939687	453	R>W	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA412122005 rs1274412312	455	E>K		No	ClinGen gnomAD
CA10309461 rs772777381	456	A>S		No	ClinGen ExAC gnomAD
rs1270097775 CA412121951	460	L>F		No	ClinGen TOPMed gnomAD
rs747748937 CA10309459	460	L>P		No	ClinGen ExAC gnomAD
CA412121947 rs747748937	460	L>R		No	ClinGen ExAC gnomAD
CA412121941 rs1373632136	461	G>A		No	ClinGen TOPMed gnomAD
CA412121934 rs1301609552	462	K>E		No	ClinGen gnomAD
CA10309458 rs776424326	462	K>N		No	ClinGen ExAC gnomAD
rs768373796 CA10309457	467	L>*		No	ClinGen ExAC gnomAD
CA325491648 rs1043692742	468	D>N		No	ClinGen Ensembl
CA412121878 rs1395733341	470	M>T		No	ClinGen gnomAD
rs1408169931 CA412121881	470	M>V		No	ClinGen gnomAD
CA412121862 rs1341555974	472	D>E		No	ClinGen gnomAD
CA412121863 rs1173067008	472	D>V		No	ClinGen TOPMed gnomAD
CA412121866 rs1477007115	472	D>Y		No	ClinGen TOPMed
CA10309454 rs757333205	474	Q>K		No	ClinGen ExAC gnomAD
rs1476731453 CA412121620	475	V>M		No	ClinGen TOPMed
CA10309425 rs755336865	476	N>K		No	ClinGen ExAC TOPMed gnomAD
CA10309424 rs751983554	477	S>G		No	ClinGen ExAC TOPMed gnomAD
rs751983554 CA412121607	477	S>R		No	ClinGen ExAC TOPMed gnomAD
CA10309423 rs780232551	479	I>T		No	ClinGen ExAC gnomAD
COSM3363706 CA325490963 rs868031365	480	A>V	kidney [Cosmic]	No	ClinGen cosmic curated Ensembl
CA412121573 rs1156530306	482	T>I		No	ClinGen TOPMed
CA10309420 rs750863899	482	T>P		No	ClinGen ExAC gnomAD
CA10309417 rs146379292	483	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10309418 rs146379292	483	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760207705 CA10309415	485	S>F		No	ClinGen ExAC TOPMed gnomAD
CA412121556 rs1244126346	486	A>T		No	ClinGen gnomAD
rs775382221 CA10309414	486	A>V		No	ClinGen ExAC TOPMed gnomAD
rs771709435 CA10309413	487	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1210758647 CA412121548 COSM479111	487	A>V	kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs201304779 CA10309411	488	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1215021213 CA412121539	489	A>D		No	ClinGen TOPMed gnomAD
rs1292671663 CA412121541	489	A>P		No	ClinGen gnomAD
rs1377834005 CA412121531	490	T>I		No	ClinGen TOPMed
rs1242548160 CA412121526	491	L>R		No	ClinGen TOPMed
rs748206237 CA10309408	492	D>A		No	ClinGen ExAC gnomAD
rs748206237 CA412121521	492	D>V		No	ClinGen ExAC gnomAD
CA412121503 rs1394813328	495	V>A		No	ClinGen gnomAD
CA325490875 rs768944994	496	R>P		No	ClinGen ExAC gnomAD
rs768944994 CA10309406	496	R>Q		No	ClinGen ExAC gnomAD
rs61748567 CA10309407	496	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1416518589 CA412121498	497	R>G		No	ClinGen gnomAD
CA412121492 rs1164836688	497	R>S		No	ClinGen gnomAD
TCGA novel	498	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412121482 rs1429564787	499	L>P		No	ClinGen gnomAD
CA10309405 rs747140958	500	S>F		No	ClinGen ExAC TOPMed gnomAD
rs747140958 CA412121477	500	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA325490869 rs372054124	501	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA325490841 rs568653229	502	G>E		No	ClinGen Ensembl
CA10309402 rs549871177	502	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs545428966 CA412121463	503	A>P		No	ClinGen ExAC gnomAD
rs545428966 CA412121464	503	A>S		No	ClinGen ExAC gnomAD
CA10309401 rs545428966	503	A>T		No	ClinGen ExAC gnomAD
rs200644746 CA10309400	503	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1205163162 CA412121454	504	Q>H		No	ClinGen gnomAD
CA10309397 rs760392704	505	R>M		No	ClinGen ExAC gnomAD
CA10309398 rs760392704	505	R>T		No	ClinGen ExAC gnomAD
rs772315508 CA10309367	507	L>P		No	ClinGen ExAC TOPMed gnomAD
rs772315508 CA10309368	507	L>R		No	ClinGen ExAC TOPMed gnomAD
CA412121348 rs1208510828	509	V>A		No	ClinGen gnomAD
CA10309365 rs201412860	509	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10309364 rs201412860 COSM1035378	509	V>M	endometrium Variant assessed as Somatic; 9.246e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA10309363 rs749848153	510	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1314631349 CA412121310	512	G>E		No	ClinGen gnomAD
rs755687663 CA10309361	512	G>R		No	ClinGen ExAC gnomAD
rs747641338 CA10309360	514	L>P		No	ClinGen ExAC TOPMed gnomAD
CA10309356 rs761119286	516	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10309357 rs544861577	516	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA412121244 rs1174485895	517	P>L		No	ClinGen TOPMed
CA412121225 rs1569133617	519	D>G		No	ClinGen Ensembl
CA325490562 rs1003559464	519	D>H		No	ClinGen TOPMed gnomAD
CA10309354 rs565204645	521	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA325490557 rs755232800	521	A>V		No	ClinGen Ensembl
CA10309353 rs765056280	522	H>R		No	ClinGen ExAC TOPMed gnomAD
CA10309351 rs753997159 COSM3964428	524	G>R	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs753997159 CA325490533	524	G>W		No	ClinGen ExAC TOPMed gnomAD
CA10309320 rs779671800	525	R>K		No	ClinGen ExAC gnomAD
CA412121002 rs1198069569	527	L>P		No	ClinGen gnomAD
rs771647737 CA10309319	528	W>C		No	ClinGen ExAC gnomAD
CA325490239 rs957980473	530	N>S		No	ClinGen Ensembl
CA412120927 rs1274311216	532	R>K		No	ClinGen gnomAD
CA325490238 rs144296501	532	R>S		No	ClinGen ESP TOPMed gnomAD
CA10309317 rs778579777	533	G>A		No	ClinGen ExAC gnomAD
rs745469522 CA10309318	533	G>C		No	ClinGen ExAC gnomAD
rs1435922527	534	K>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs753782136 CA325490221	535	E>A		No	ClinGen ExAC TOPMed gnomAD
CA10309313 rs149579149	535	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753782136 CA10309315	535	E>G		No	ClinGen ExAC TOPMed gnomAD
rs757074256 CA10309316	535	E>K		No	ClinGen ExAC gnomAD
CA10309312 rs138168321	536	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766386076 CA10309311	536	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA412120867 rs1601618681	537	A>P		No	ClinGen Ensembl
rs758552349 CA10309310	537	A>V		No	ClinGen ExAC TOPMed gnomAD
CA412120846 rs1171622610	539	L>P		No	ClinGen gnomAD
TCGA novel	540	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1470256650 CA412120842	540	S>T		No	ClinGen TOPMed gnomAD
COSM726740 CA412120806 rs1184633073	542	F>L	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA10309308 rs76578729	544	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed
CA325490131 rs76578729	544	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed
rs777318498 COSM1308284 CA412120769	545	S>C	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA10309306 rs777318498	545	S>F		No	ClinGen ExAC TOPMed gnomAD
CA412120748 rs1350489112	546	T>M		No	ClinGen gnomAD
CA412120743 rs1218802057	547	P>L		No	ClinGen gnomAD
rs1279303214 CA412120725	549	P>L		No	ClinGen TOPMed
rs1281304115 CA412120712	550	V>A		No	ClinGen gnomAD
CA412120718 rs61748566	550	V>L		No	ClinGen Ensembl
CA325490081 rs61748566	550	V>M		No	ClinGen Ensembl
CA10309283 rs766999237	551	M>I		No	ClinGen ExAC gnomAD
rs759051560 CA10309282	552	T>I		No	ClinGen ExAC gnomAD
rs138919111 CA10309281 COSM1327173	553	G>S	ovary [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA412119586 rs1273824748	558	C>S		No	ClinGen gnomAD
CA412119588 rs1273824748	558	C>Y		No	ClinGen gnomAD
CA10309278 rs748875734	561	G>A		No	ClinGen ExAC gnomAD
CA412119512 rs769565193	562	L>F		No	ClinGen ExAC gnomAD
rs1601617733 CA412119520	562	L>W		No	ClinGen Ensembl
CA10309275 rs748152015	563	V>M		No	ClinGen ExAC gnomAD
TCGA novel	565	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs889346725 CA325487886	565	P>L		No	ClinGen TOPMed
rs373891992 CA325487858	566	L>P		No	ClinGen ESP TOPMed
CA412119466 rs1238345855	567	A>T		No	ClinGen TOPMed
rs1164675491 CA412119322	576	L>V		No	ClinGen gnomAD
CA10309269 rs754052787	578	A>V		No	ClinGen ExAC TOPMed gnomAD
CA10309268 rs778337295	580	G>R		No	ClinGen ExAC TOPMed gnomAD
CA325487839 rs972615726	581	P>S		No	ClinGen TOPMed
CA412119266 rs972615726	581	P>T		No	ClinGen TOPMed
rs866151461 CA325487830	582	G>D		No	ClinGen Ensembl
CA10309266 rs753292399	583	H>R		No	ClinGen ExAC gnomAD
rs756538758 CA10309267	583	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA10309265 rs768096692	584	G>A		No	ClinGen ExAC TOPMed gnomAD
rs11553697 CA412119190	586	Q>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs11553697 CA10309264	586	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10309263 rs751087965	587	G>R		No	ClinGen ExAC gnomAD
CA10309261 rs762654201	588	P>L		No	ClinGen ExAC TOPMed gnomAD
CA325487773 rs953378675	589	H>Y		No	ClinGen TOPMed
rs769618185 CA10309259	590	A>T		No	ClinGen ExAC TOPMed gnomAD
CA412119110 rs1371327403	592	L>F		No	ClinGen gnomAD
CA325487753 rs527647798	593	L>V		No	ClinGen 1000Genomes gnomAD
rs1384625674 CA412119085	594	A>D		No	ClinGen TOPMed gnomAD
CA10309258 rs201027749	595	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA325487741 CA10309257 rs776239767	596	M>I		No	ClinGen ExAC TOPMed gnomAD
rs533436968 CA325487743	596	M>V		No	ClinGen Ensembl
CA412119045 rs1443488389	597	L>I		No	ClinGen gnomAD
CA325487730 rs981097705	598	R>Q		No	ClinGen TOPMed gnomAD
CA10309256 rs768669155	598	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1569132783 CA412119006	599	G>V		No	ClinGen Ensembl
rs201720171 CA10309255	600	L>M		No	ClinGen 1000Genomes ExAC gnomAD
rs779062288 CA10309254	601	A>S		No	ClinGen ExAC gnomAD
rs779062288 CA325487723	601	A>T		No	ClinGen ExAC gnomAD
rs917562532 CA325487705	601	A>V		No	ClinGen Ensembl
rs771119405 CA10309253	602	G>E		No	ClinGen ExAC gnomAD
CA10309252 rs749585143	604	R>*		No	ClinGen ExAC gnomAD
rs1266692661 CA412118950	604	R>Q		No	ClinGen TOPMed gnomAD
rs1601617466 CA412118906	608	L>H		No	ClinGen Ensembl
CA412118897 rs1481550776	609	L>P		No	ClinGen gnomAD
CA325487683 rs868531698	610	E>D		No	ClinGen Ensembl
CA325487675 rs13054930	611	E>Q		No	ClinGen Ensembl
CA10309222 rs75596977	612	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764014436 CA10309221	613	S>C		No	ClinGen ExAC gnomAD
rs760352851 CA10309220	614	T>P		No	ClinGen ExAC TOPMed gnomAD
CA412118710 rs929644724	615	P>H		No	ClinGen TOPMed gnomAD
CA412118707 rs929644724	615	P>L		No	ClinGen TOPMed gnomAD
CA325487565 rs929644724	615	P>R		No	ClinGen TOPMed gnomAD
rs867353705 CA325487557	618	A>S		No	ClinGen Ensembl
CA412118639 rs1336167096	619	G>V		No	ClinGen gnomAD
rs1243142511 CA412118595	622	A>V		No	ClinGen gnomAD
rs972369098 CA325487529	623	R>P		No	ClinGen TOPMed gnomAD
rs368982991 CA10309218	623	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1279152723 CA412118585	624	V>M		No	ClinGen gnomAD
CA412118546 rs1236007980	627	G>E		No	ClinGen TOPMed
rs1363143654 CA412118544	628	E>K		No	ClinGen gnomAD
CA10309216 rs759484850	630	P>R		No	ClinGen ExAC gnomAD
rs773443019 CA10309215	632	S>G		No	ClinGen ExAC gnomAD
CA10309214 rs533648626	634	G>D		No	ClinGen 1000Genomes ExAC gnomAD
CA412118490 rs1392869256	634	G>S		No	ClinGen gnomAD
CA412118475 rs748472433	635	P>L		No	ClinGen ExAC gnomAD
CA10309213 rs748472433	635	P>R		No	ClinGen ExAC gnomAD
CA10309212 rs776688053	638	V>G		No	ClinGen ExAC gnomAD
CA412118445 rs1214533429	639	A>T		No	ClinGen TOPMed gnomAD
rs769114941 CA10309211	639	A>V		No	ClinGen ExAC TOPMed gnomAD
CA10309209 rs780356548	640	S>F		No	ClinGen ExAC TOPMed gnomAD
CA10309208 rs758910065	641	P>L		No	ClinGen ExAC TOPMed gnomAD
CA10309207 rs746314631	643	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	644	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778452120 CA10309206	644	V>I		No	ClinGen ExAC gnomAD
CA10309205 rs756714862	645	Q>E		No	ClinGen ExAC gnomAD
rs753565928 CA10309204	646	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA412118320 rs1230926911	648	M>R		No	ClinGen TOPMed gnomAD
CA412118306 rs1297127489	649	Y>F		No	ClinGen gnomAD
rs1340353034 CA412118311	649	Y>H		No	ClinGen gnomAD
CA412118303 rs755284115	650	L>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs752548379 CA10309201	651	R>G		No	ClinGen ExAC gnomAD
rs759607673 CA10309199	652	G>E		No	ClinGen ExAC TOPMed gnomAD
CA325487423 rs765400334	654	L>M		No	ClinGen ExAC TOPMed gnomAD
rs765400334 CA10309197	654	L>V		No	ClinGen ExAC TOPMed gnomAD
CA10309196 rs761778884	655	E>K		No	ClinGen ExAC gnomAD
rs761778884 CA325487401	655	E>Q		No	ClinGen ExAC gnomAD
CA10309195 rs776723855	657	Q>R		No	ClinGen ExAC gnomAD
rs1244411874 CA412118160	659	K>R		No	ClinGen gnomAD
rs1253125837 CA412118100	662	Q>P		No	ClinGen gnomAD
CA10309170 rs527783582	663	C>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1476145410 CA412118008	663	C>S		No	ClinGen TOPMed
CA412117998 rs1357115847	664	H>Y		No	ClinGen gnomAD
CA412117938 rs1162031377	668	V>M		No	ClinGen gnomAD
rs749748676 CA10309168	669	A>G		No	ClinGen ExAC gnomAD
TCGA novel	669	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

1 associated diseases with Q969S8

Without disease ID

1 regional properties for Q969S8

Type	Name	Position	InterPro Accession
domain	Histone deacetylase domain	25 - 321	IPR023801

Functions

		Description
EC Number	3.5.1.48	In linear amides
Subcellular Localization	Cytoplasm Nucleus	Excluded from nucleoli
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
histone deacetylase complex	A protein complex that possesses histone deacetylase activity.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

8 GO annotations of molecular function

Name	Definition
acetylputrescine deacetylase activity	Catalysis of the reaction: N-acetylputrescine + H(2)O = acetate + putrescine.
acetylspermidine deacetylase activity	Catalysis of the reaction: N(8)-acetylspermidine + H(2)O = acetate + spermidine.
deacetylase activity	Catalysis of the hydrolysis of an acetyl group or groups from a substrate molecule.
enzyme binding	Binding to an enzyme, a protein with catalytic activity.
histone deacetylase activity	Catalysis of the reaction: histone N6-acetyl-L-lysine + H2O = histone L-lysine + acetate. This reaction represents the removal of an acetyl group from a histone, a class of proteins complexed to DNA in chromatin and chromosomes.
histone deacetylase binding	Binding to histone deacetylase.
protein lysine deacetylase activity	Catalysis of the reaction: H2O + N6-acetyl-L-lysyl-
zinc ion binding	Binding to a zinc ion (Zn).

13 GO annotations of biological process

Name	Definition
chromatin organization	The assembly or remodeling of chromatin composed of DNA complexed with histones, other associated proteins, and sometimes RNA.
DNA repair	The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway.
histone deacetylation	The modification of histones by removal of acetyl groups.
homologous recombination	A DNA recombination process that results in the exchange of an equal amount of genetic material between highly homologous DNA molecules.
macroautophagy	The major inducible pathway for the general turnover of cytoplasmic constituents in eukaryotic cells, it is also responsible for the degradation of active cytoplasmic enzymes and organelles during nutrient starvation. Macroautophagy involves the formation of double-membrane-bounded autophagosomes which enclose the cytoplasmic constituent targeted for degradation in a membrane-bounded structure. Autophagosomes then fuse with a lysosome (or vacuole) releasing single-membrane-bounded autophagic bodies that are then degraded within the lysosome (or vacuole). Some types of macroautophagy, e.g. pexophagy, mitophagy, involve selective targeting of the targets to be degraded.
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
peptidyl-lysine deacetylation	The removal of an acetyl group from an acetylated lysine residue in a peptide or protein.
polyamine deacetylation	The modification of acetylpolyamine by the removal of acetyl groups.
positive regulation of mismatch repair	Any process that activates or increases the frequency, rate or extent of mismatch repair.
protein deacetylation	The removal of an acetyl group from a protein amino acid. An acetyl group is CH3CO-, derived from acetic
regulation of DNA-templated transcription	Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.
spermidine deacetylation	The modification of acetylspermadine by the removal of acetyl groups.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8LRK8	HDA18	Histone deacetylase 18	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MGTALVYHED	MTATRLLWDD	PECEIERPER	LTAALDRLRQ	RGLEQRCLRL	SAREASEEEL
70	80	90	100	110	120
GLVHSPEYVS	LVRETQVLGK	EELQALSGQF	DAIYFHPSTF	HCARLAAGAG	LQLVDAVLTG
130	140	150	160	170	180
AVQNGLALVR	PPGHHGQRAA	ANGFCVFNNV	AIAAAHAKQK	HGLHRILVVD	WDVHHGQGIQ
190	200	210	220	230	240
YLFEDDPSVL	YFSWHRYEHG	RFWPFLRESD	ADAVGRGQGL	GFTVNLPWNQ	VGMGNADYVA
250	260	270	280	290	300
AFLHLLLPLA	FEFDPELVLV	SAGFDSAIGD	PEGQMQATPE	CFAHLTQLLQ	VLAGGRVCAV
310	320	330	340	350	360
LEGGYHLESL	AESVCMTVQT	LLGDPAPPLS	GPMAPCQSAL	ESIQSARAAQ	APHWKSLQQQ
370	380	390	400	410	420
DVTAVPMSPS	SHSPEGRPPP	LLPGGPVCKA	AASAPSSLLD	QPCLCPAPSV	RTAVALTTPD
430	440	450	460	470	480
ITLVLPPDVI	QQEASALREE	TEAWARPHES	LAREEALTAL	GKLLYLLDGM	LDGQVNSGIA
490	500	510	520	530	540
ATPASAAAAT	LDVAVRRGLS	HGAQRLLCVA	LGQLDRPPDL	AHDGRSLWLN	IRGKEAAALS
550	560	570	580	590	600
MFHVSTPLPV	MTGGFLSCIL	GLVLPLAYGF	QPDLVLVALG	PGHGLQGPHA	ALLAAMLRGL
610	620	630	640	650	660
AGGRVLALLE	ENSTPQLAGI	LARVLNGEAP	PSLGPSSVAS	PEDVQALMYL	RGQLEPQWKM

LQCHPHLVA