AiPD: Autoinhibited Protein Database

P56696

Gene name	KCNQ4
Protein name	Potassium voltage-gated channel subfamily KQT member 4
Names	KQT-like 4, Potassium channel subunit alpha KvLQT4, Voltage-gated potassium channel subunit Kv7.4
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9132
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

420-495 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

420-495 (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

10 structures for P56696

Entry ID	Method	Resolution	Chain	Position	Source
2OVC	X-ray	207 A	A	610-640	PDB
4GOW	X-ray	260 A	A	522-593	PDB
6N5W	X-ray	215 A			PDB
7BYL	EM	250 A	A/C/E/G	1-695	PDB
7BYM	EM	310 A	A/C/E/G	1-695	PDB
7BYN	EM	330 A	A/C/E/G	1-695	PDB
7VNP	EM	279 A	A/C/E/G	2-650	PDB
7VNQ	EM	296 A	A/C/E/G	2-650	PDB
7VNR	EM	280 A	A/C/E/G	2-650	PDB
AF-P56696-F1	Predicted				AlphaFoldDB

588 variants for P56696

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000709614 CA339885140 rs1271250198	47	L>P	Autosomal dominant nonsyndromic hearing loss 2A [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000006623 rs80358271	71	Q>missing	Autosomal dominant nonsyndromic hearing loss 2A [ClinVar]	Yes	ClinVar dbSNP
RCV000006626 rs80358272	71	Q>missing	Autosomal dominant nonsyndromic hearing loss 2A [ClinVar]	Yes	ClinVar dbSNP
rs1553165199 RCV000655876	77	H>missing	Autosomal dominant nonsyndromic hearing loss 2A [ClinVar]	Yes	ClinVar dbSNP
RCV000767381 rs1557977732	88	Y>missing	Autosomal dominant nonsyndromic hearing loss 2A [ClinVar]	Yes	ClinVar dbSNP
RCV000155896 rs727504635	154	A>missing	Rare genetic deafness [ClinVar]	Yes	ClinVar dbSNP
CA342051 RCV001521883 rs80358273 RCV002247375 RCV000655885	182	F>L	Autosomal dominant nonsyndromic hearing loss 2A [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV002532721 rs367890569 RCV000763909 CA794594 RCV000603791	228	G>C	Autosomal dominant nonsyndromic hearing loss 2A [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs797044965 RCV000655877 CA347371	230	V>E	Autosomal dominant nonsyndromic hearing loss 2A [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA342055 rs80358274 RCV001794461 RCV000655886	260	E>K	Autosomal dominant nonsyndromic hearing loss 2A [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000655887 rs80358275 CA342057	262	D>V	Autosomal dominant nonsyndromic hearing loss 2A [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000722178 rs1558014576 CA339895616	266	D>Y	Autosomal dominant nonsyndromic hearing loss 2A [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000484405 RCV000825943 rs797044966 RCV001089683 RCV000656422	269	S>missing	Nonsyndromic genetic hearing loss Autosomal dominant nonsyndromic hearing loss 2A [ClinVar]	Yes	ClinVar dbSNP
CA347351 RCV000655878 rs797044967	270	Y>H	Autosomal dominant nonsyndromic hearing loss 2A [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000006625 rs80358276 VAR_010936 CA340538	274	L>H	Autosomal dominant nonsyndromic hearing loss 2A DFNA2A [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000710319 CA21112664 rs956666801 RCV000599794	275	W>C	Nonsyndromic genetic hearing loss [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000655879 CA347395 rs797044968	275	W>R	Variant assessed as Somatic; impact. Autosomal dominant nonsyndromic hearing loss 2A [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
RCV000006620 rs80358277 RCV000211784 RCV001723546 CA340533 VAR_008726	276	W>S	Autosomal dominant nonsyndromic hearing loss 2A Rare genetic deafness DFNA2A [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000155447 CA182793 RCV000763910 rs727504459	277	G>R	Variant assessed as Somatic; impact. Autosomal dominant nonsyndromic hearing loss 2A [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
VAR_010937 RCV000006624 RCV001567939 CA340537 rs80358278	281	L>S	Autosomal dominant nonsyndromic hearing loss 2A DFNA2A [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001851702 RCV000006622 CA340535 rs28937588 VAR_008727	285	G>C	Autosomal dominant nonsyndromic hearing loss 2A DFNA2A; loss of potassium selectivity of the pore [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA340532 RCV000211722 RCV000006619 rs28937588 RCV002512841 VAR_001547 RCV000844633	285	G>S	Nonsyndromic genetic hearing loss Autosomal dominant nonsyndromic hearing loss 2A Rare genetic deafness DFNA2A; dominant negative effect; abolishes potassium current [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_065779 CA233197 rs137853969 RCV000056155 RCV000144421	287	G>R	Autosomal dominant nonsyndromic hearing loss 2A DFNA2A [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001258340 rs137853969	287	G>S	Autosomal dominant nonsyndromic hearing loss 2A [ClinVar]	Yes	ClinVar dbSNP
RCV002510811 CA347354 rs797044970 RCV000655881	291	P>L	Autosomal dominant nonsyndromic hearing loss 2A [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000655880 CA347413 rs797044969	291	P>S	Autosomal dominant nonsyndromic hearing loss 2A [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs80358279 RCV000006627 CA340540	296	G>S	Autosomal dominant nonsyndromic hearing loss 2A [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000655882 RCV001762405 CA347397 rs797044971	297	R>S	Autosomal dominant nonsyndromic hearing loss 2A [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA340534 rs28939710 VAR_008728 RCV000006621 RCV002512842 RCV001195307	321	G>S	Autosomal dominant nonsyndromic hearing loss 2A Rare genetic deafness DFNA2A [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
rs797044972 RCV000655883	349	A>P	Autosomal dominant nonsyndromic hearing loss 2A [ClinVar]	Yes	ClinVar dbSNP
RCV000728415 rs374078257 RCV002533094 CA794818	420	R>Q	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs34287852 RCV001001541 VAR_058971 CA135528 RCV000038243 RCV002054690	455	H>Q	Autosomal dominant nonsyndromic hearing loss 2A [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs748693577 RCV001334313 CA794928	522	T>M	Autosomal dominant nonsyndromic hearing loss 2A [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001354150 RCV001267187 rs759364617 CA794934	527	M>L	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000604071 rs1553168601	558	V>missing	Rare genetic deafness [ClinVar]	Yes	ClinVar dbSNP
RCV001265837 rs1648848951	623	E>Q	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV002514082 RCV000655884 CA347366 rs772135867	680	S>F	Autosomal dominant nonsyndromic hearing loss 2A [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA339884733 rs1359438636	2	A>T		No	ClinGen TOPMed
rs1422496526 CA339884800	5	P>L		No	ClinGen TOPMed
rs1427513839 CA339884789	5	P>S		No	ClinGen TOPMed gnomAD
CA339884809 rs1478347910	6	P>Q		No	ClinGen TOPMed
CA339884816 rs1248234130	7	R>H		No	ClinGen TOPMed
CA339884868 rs1374479325	10	G>A		No	ClinGen gnomAD
CA339884861 rs1170668900	10	G>R		No	ClinGen TOPMed gnomAD
rs1170668900 CA339884859	10	G>S		No	ClinGen TOPMed gnomAD
rs777816150 CA794439	12	G>D		No	ClinGen ExAC gnomAD
CA21089000 rs1013934456	14	P>L		No	ClinGen TOPMed
CA339884942 rs1369988851	15	P>L		No	ClinGen TOPMed gnomAD
CA339884947 rs1278081268	16	G>A		No	ClinGen TOPMed
CA339884945 rs1345793795	16	G>R		No	ClinGen TOPMed
rs1347676173 CA339884960	18	A>D		No	ClinGen TOPMed
rs1570792829 CA339884964	19	P>S		No	ClinGen Ensembl
CA339884971 rs1268949306	20	R>G		No	ClinGen TOPMed
rs1406640097 CA339884989	23	L>I		No	ClinGen gnomAD
CA21089019 rs905612913	24	V>A		No	ClinGen TOPMed gnomAD
rs770609353 CA794442	24	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1001249688 CA21089024	27	T>R		No	ClinGen TOPMed gnomAD
rs1489227328 CA339885018	28	A>D		No	ClinGen gnomAD
CA339885023 rs1267031417	29	V>L		No	ClinGen gnomAD
rs1267031417 CA339885021	29	V>M		No	ClinGen gnomAD
TCGA novel	30	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA339885036 rs1414546484	31	S>G		No	ClinGen TOPMed
CA339885041 rs1221693614	31	S>R		No	ClinGen gnomAD
CA21089030 rs951855489	31	S>T		No	ClinGen TOPMed
rs1190970191 CA339885056	33	Q>H		No	ClinGen gnomAD
CA339885058 rs1391299157	34	G>S		No	ClinGen gnomAD
rs1477347932 CA339885075	36	A>G		No	ClinGen TOPMed
rs983796218 CA21089031	37	G>D		No	ClinGen TOPMed
CA339885094 rs1237127362	39	G>D		No	ClinGen TOPMed
CA339885097 rs1293159738	40	G>C		No	ClinGen TOPMed gnomAD
CA339885098 rs1392633092	40	G>D		No	ClinGen gnomAD
rs1570792978 CA339885114	43	R>G		No	ClinGen Ensembl
CA339885121 rs1299603082	44	R>C		No	ClinGen gnomAD
CA794443 rs774239825	46	G>D		No	ClinGen ExAC gnomAD
CA339885138 rs1271456210	47	L>F		No	ClinGen TOPMed
rs1213935398 CA339885145	48	L>Q		No	ClinGen TOPMed gnomAD
rs1319010068 CA339885149	49	G>S		No	ClinGen TOPMed
rs1553165192 CA339885156 RCV000601653	50	S>N		No	ClinGen ClinVar Ensembl dbSNP
rs1557977267 CA339885162	51	P>S		No	ClinGen Ensembl
CA339885169 rs1323003883	52	L>Q		No	ClinGen gnomAD
CA339885168 rs1292743227	52	L>V		No	ClinGen TOPMed gnomAD
rs1272131400 CA339885174	53	P>S		No	ClinGen gnomAD
rs1014828055 CA21089054	54	P>L		No	ClinGen TOPMed
rs1448058512 CA339885196	57	P>A		No	ClinGen TOPMed
rs759465970 CA794444	58	L>F		No	ClinGen ExAC gnomAD
RCV000905703 rs775420649 CA794446	59	P>L		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs772056095 CA794445	59	P>S		No	ClinGen ExAC gnomAD
CA339885210 rs1465095912	60	G>R		No	ClinGen TOPMed
CA794449 rs763627695	61	P>L		No	ClinGen ExAC TOPMed gnomAD
rs763627695 CA339885220	61	P>R		No	ClinGen ExAC TOPMed gnomAD
rs753386618 CA794450	62	G>D		No	ClinGen ExAC gnomAD
CA339885221 rs1459048560	62	G>S		No	ClinGen gnomAD
rs761578330 CA794451	63	S>P		No	ClinGen ExAC TOPMed gnomAD
CA794453 rs752032294	65	S>L		No	ClinGen ExAC TOPMed gnomAD
rs752032294 CA794454	65	S>W		No	ClinGen ExAC TOPMed gnomAD
rs756211540 CA794457	68	A>T		No	ClinGen ExAC gnomAD
rs749439118 CA794459	70	G>C		No	ClinGen ExAC TOPMed gnomAD
CA794460 rs771251584	71	Q>R		No	ClinGen ExAC gnomAD
rs778559114 CA794461	72	R>S		No	ClinGen ExAC gnomAD
CA339885284 rs1483888972	73	S>P		No	ClinGen TOPMed gnomAD
rs1181316883 CA339885286	73	S>Y		No	ClinGen gnomAD
rs745605543 CA794462	74	S>L		No	ClinGen ExAC TOPMed gnomAD
CA794464 rs775367552	75	A>T		No	ClinGen ExAC TOPMed gnomAD
CA339885297 rs1411591349	75	A>V		No	ClinGen gnomAD
rs1156726710 CA339885299	76	A>T		No	ClinGen gnomAD
CA339885309 rs1311685113	77	H>R		No	ClinGen gnomAD
rs1353027537 CA339885317	78	K>R		No	ClinGen TOPMed gnomAD
rs1411196713 CA339885323	79	R>C		No	ClinGen gnomAD
CA794467 rs760630974	81	R>C		No	ClinGen ExAC gnomAD
rs768031914 CA794468	81	R>H		No	ClinGen ExAC gnomAD
CA339885335 rs760630974	81	R>S		No	ClinGen ExAC gnomAD
CA794469 rs776248740	82	R>C		No	ClinGen ExAC TOPMed gnomAD
CA339885341 rs1313245293	82	R>H		No	ClinGen gnomAD
rs776248740 CA339885339	82	R>S		No	ClinGen ExAC TOPMed gnomAD
rs772740345 CA794472	85	N>K		No	ClinGen ExAC TOPMed gnomAD
rs759935456 CA794473	86	W>G		No	ClinGen ExAC TOPMed gnomAD
rs759935456 CA339885364	86	W>R		No	ClinGen ExAC TOPMed gnomAD
rs4440844 CA794474	87	V>A		No	ClinGen ExAC gnomAD
CA339885380 rs1429420446	88	Y>H		No	ClinGen gnomAD
rs1427026923 CA339885386	89	N>D		No	ClinGen gnomAD
CA339885392 rs1470693740	89	N>K		No	ClinGen TOPMed gnomAD
CA339885420 rs1414906231	94	P>S		No	ClinGen gnomAD
TCGA novel	95	R>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs892642305 CA21089222	95	R>G		No	ClinGen Ensembl
rs1172931093 CA339885431	96	G>C		No	ClinGen TOPMed gnomAD
CA339885430 rs1172931093	96	G>S		No	ClinGen TOPMed gnomAD
rs756724790 CA794477	98	A>T		No	ClinGen ExAC gnomAD
rs1431085697 CA339885448	98	A>V		No	ClinGen gnomAD
CA339885455 CA21089238 rs946751290	99	F>L		No	ClinGen TOPMed gnomAD
rs764074937 CA794478	100	V>I		No	ClinGen ExAC gnomAD
CA339885466 rs1557977849	101	Y>F		No	ClinGen Ensembl
CA339885474 rs1368754307	102	H>L		No	ClinGen gnomAD
rs1234099873 CA339885475	102	H>Q		No	ClinGen TOPMed gnomAD
rs779125798 CA794481	103	V>A		No	ClinGen ExAC gnomAD
CA339885477 rs1301861512	103	V>I		No	ClinGen gnomAD
rs866433910 CA21089276	104	F>L		No	ClinGen Ensembl
rs201467006 CA794482 CA794483	105	I>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	105	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA21089309 rs201467006	105	I>V		No	ClinGen ExAC TOPMed gnomAD
CA794505 rs189892658	106	F>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	107	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA794506 rs781140586	109	V>I		No	ClinGen ExAC TOPMed gnomAD
rs748054545 CA794507	110	F>V		No	ClinGen ExAC gnomAD
TCGA novel	119	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770763842 CA794512	120	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA339893123 rs1206186130	121	I>T		No	ClinGen TOPMed
CA339893135 rs1489698141	122	Q>*		No	ClinGen gnomAD
CA21111520 rs563132684	122	Q>R		No	ClinGen TOPMed
rs968190941 CA21111523	124	H>R		No	ClinGen TOPMed gnomAD
rs978378861 CA21111527	128	A>T		No	ClinGen TOPMed gnomAD
RCV000601665 rs761034165 CA794514	129	N>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1231704605 CA339893285	130	E>K		No	ClinGen TOPMed gnomAD
rs768933585 CA794515	133	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1330941518 CA339893331	133	L>H		No	ClinGen gnomAD
CA21111889 rs267598596	136	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1259956754 CA339893532	137	F>S		No	ClinGen gnomAD
CA339893539 rs1202119766	138	V>M		No	ClinGen gnomAD
rs200053059 CA794537	140	I>T		No	ClinGen ExAC TOPMed gnomAD
CA339893569 rs1281035238	140	I>V		No	ClinGen gnomAD
rs766465736 CA794539	141	V>E		No	ClinGen ExAC gnomAD
rs1415418857 CA339893628	144	G>V		No	ClinGen TOPMed
rs1558012434 CA339893664	147	Y>S		No	ClinGen Ensembl
rs767337917 CA21111909	148	I>F		No	ClinGen ExAC TOPMed gnomAD
CA339893675 rs767337917	148	I>L		No	ClinGen ExAC TOPMed gnomAD
rs752503566 CA21111911	148	I>M		No	ClinGen ExAC TOPMed gnomAD
CA794541 rs767337917	148	I>V		No	ClinGen ExAC TOPMed gnomAD
CA339893697 rs1174806620	149	V>D		No	ClinGen gnomAD
rs755979378 CA794543	149	V>I		No	ClinGen ExAC TOPMed gnomAD
CA339893689 rs755979378	149	V>L		No	ClinGen ExAC TOPMed gnomAD
CA794544 rs753849216	157	C>S		No	ClinGen ExAC gnomAD
CA794545 rs756787790	158	C>R		No	ClinGen ExAC gnomAD
CA339893830 rs1397429647	159	R>C		No	ClinGen gnomAD
CA339893850 rs1391059122	160	Y>*		No	ClinGen gnomAD
TCGA novel	165	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1235217843 CA339893922	166	R>G		No	ClinGen gnomAD
CA339893927 rs1282247264	166	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA339893952 rs1201758120	168	R>G		No	ClinGen gnomAD
CA21111934 rs778605247	170	A>D		No	ClinGen ExAC gnomAD
rs778605247 CA794547	170	A>V		No	ClinGen ExAC gnomAD
rs745510596 CA794548	175	C>W		No	ClinGen ExAC gnomAD
CA794549 rs758042746	177	I>V		No	ClinGen ExAC gnomAD
rs1462187233 COSM2156910 CA339894173	178	D>G	central_nervous_system [Cosmic]	No	ClinGen cosmic curated gnomAD
CA339894200 rs1392206315	180	I>F		No	ClinGen TOPMed
CA339894203 rs1333939175	180	I>T		No	ClinGen TOPMed gnomAD
CA794572 rs555787223	183	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA339894237 rs555787223	183	V>M		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	184	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1245620722 CA339894272	185	S>L		No	ClinGen TOPMed gnomAD
rs1245620722 CA339894273	185	S>W		No	ClinGen TOPMed gnomAD
rs771497907 CA794573	186	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1233538482 CA339894356	191	A>P		No	ClinGen gnomAD
CA21112110 rs900346633	192	G>R		No	ClinGen Ensembl
CA339894400 rs772216624	193	T>I		No	ClinGen ExAC TOPMed gnomAD
rs772216624 CA794576	193	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1243168865 CA339894407	194	Q>*		No	ClinGen gnomAD
CA794578 rs761017267	195	G>D		No	ClinGen ExAC TOPMed gnomAD
CA339894433 rs1184807552	195	G>S		No	ClinGen gnomAD
rs373711753 CA794579	196	N>D		No	ClinGen ESP ExAC gnomAD
rs776623615 CA794580	197	I>F		No	ClinGen ExAC gnomAD
rs761834841 CA794581	199	A>S		No	ClinGen ExAC gnomAD
rs1161064765 CA339894501	200	T>A		No	ClinGen gnomAD
rs765015347 CA794582	200	T>R		No	ClinGen ExAC gnomAD
rs1286549624 CA339894523	202	A>V		No	ClinGen TOPMed gnomAD
TCGA novel	204	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	204	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA339894557 rs1316190627	206	M>V		No	ClinGen gnomAD
rs1353222298 CA339894574	207	R>H		No	ClinGen gnomAD
rs750383779 CA794583	207	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1225792086 CA339894582	208	F>V		No	ClinGen gnomAD
rs765957601 CA794585	212	L>V		No	ClinGen ExAC TOPMed gnomAD
CA339894640 rs1214286132	213	R>H		No	ClinGen gnomAD
CA339894637 rs1214286132	213	R>P		No	ClinGen gnomAD
CA339894651 rs1255626878	214	M>I		No	ClinGen gnomAD
rs896684196 CA21112162	214	M>L		No	ClinGen TOPMed gnomAD
rs1210326331 CA339894648	214	M>T		No	ClinGen TOPMed gnomAD
rs896684196 CA339894643	214	M>V		No	ClinGen TOPMed gnomAD
rs1030508186 CA21112166	215	V>A		No	ClinGen Ensembl
rs1178671679 CA339894671	216	R>L		No	ClinGen TOPMed gnomAD
rs1418359605 CA339894675	217	M>V		No	ClinGen gnomAD
CA339894686 rs1156831243	218	D>N		No	ClinGen gnomAD
rs1570829586 CA339894693	218	D>V		No	ClinGen Ensembl
rs754687083 CA794586	219	R>C		No	ClinGen ExAC TOPMed gnomAD
rs778109027 CA794587	219	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA339894717 rs1424247609	220	R>L		No	ClinGen TOPMed
rs1311781374 CA339894718	221	G>S		No	ClinGen gnomAD
CA794590 rs752658856	222	G>D		No	ClinGen ExAC TOPMed gnomAD
rs757655218 CA794589	222	G>S		No	ClinGen ExAC gnomAD
rs746418206 CA794591	223	T>A		No	ClinGen ExAC gnomAD
TCGA novel	228	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1016512710 CA21112232	229	S>L		No	ClinGen TOPMed gnomAD
CA339894823 rs761640389	231	V>A		No	ClinGen ExAC gnomAD
CA794597 rs761640389	231	V>G		No	ClinGen ExAC gnomAD
CA339894817 rs1205492134	231	V>I		No	ClinGen gnomAD
rs371645760 CA339894834	232	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	232	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772979020 CA794599	233	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA16617142 RCV000486052 rs1064796365	234	H>R		No	ClinGen ClinVar Ensembl dbSNP
CA339895353 rs1161868447	241	A>T		No	ClinGen gnomAD
rs755065456 CA794628	245	G>E		No	ClinGen ExAC TOPMed gnomAD
CA794630 rs375203388	246	F>L		No	ClinGen ESP ExAC gnomAD
rs756428861 CA794631	249	L>F		No	ClinGen ExAC gnomAD
CA21112602 RCV000825355 rs1000705787	251	F>L		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1011944551 CA21112605	252	A>T		No	ClinGen Ensembl
rs1282231132 CA339895483	253	S>C		No	ClinGen gnomAD
rs1404474371 CA339895491	254	F>C		No	ClinGen gnomAD
rs1452581149 CA339895525	257	Y>C		No	ClinGen gnomAD
rs1558014555 CA339895584	263	A>T		No	ClinGen Ensembl
rs745846744 CA794635	264	N>S		No	ClinGen ExAC TOPMed gnomAD
CA339895599 rs745846744	264	N>T		No	ClinGen ExAC TOPMed gnomAD
CA794636 rs771549225	269	S>F		No	ClinGen ExAC gnomAD
rs797044966	269	S>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1558014631 CA339895669	271	A>V		No	ClinGen Ensembl
rs763733527 CA794639	273	S>A		No	ClinGen ExAC gnomAD
rs1057518095 RCV000412910 CA16042364	275	W>S		No	ClinGen ClinVar Ensembl dbSNP
RCV000613818 CA794642 rs763326539	278	T>A		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA339895808 rs55737429	281	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1558015500 RCV000729026 CA339895843	284	I>N		No	ClinGen ClinVar Ensembl dbSNP
RCV000220056 rs876657841 CA10576424	286	Y>C		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	287	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1169627230 CA339895960	295	L>P		No	ClinGen TOPMed gnomAD
CA794673 rs747802819	297	R>G		No	ClinGen ExAC gnomAD
CA339895988 rs1570832367	298	V>G		No	ClinGen Ensembl
CA339896005 rs1349442501	300	A>G		No	ClinGen TOPMed
rs1328982761 CA339896010	301	A>P		No	ClinGen TOPMed
CA794676 rs773015201	303	F>L		No	ClinGen ExAC TOPMed gnomAD
rs772355179 CA339896039	304	A>P		No	ClinGen ExAC TOPMed gnomAD
rs772355179 CA794677	304	A>T		No	ClinGen ExAC TOPMed gnomAD
CA339896058 rs906164330	306	L>V		No	ClinGen TOPMed gnomAD
CA21113068 rs1002048420	308	I>V		No	ClinGen TOPMed
TCGA novel	309	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA339896231 rs1308296992	319	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA339896272 rs1237984540	323	A>V		No	ClinGen gnomAD
TCGA novel	327	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA339896312 rs1209671583	327	Q>P		No	ClinGen TOPMed gnomAD
rs1209671583 CA339896315	327	Q>R		No	ClinGen TOPMed gnomAD
rs1236007519 CA339896331	328	E>D		No	ClinGen TOPMed gnomAD
rs748935852 CA794711	329	Q>R		No	ClinGen ExAC gnomAD
rs1408578386 CA339896364	331	R>Q		No	ClinGen gnomAD
rs1178772384 CA339896359	331	R>W		No	ClinGen TOPMed gnomAD
CA339896367 rs1439034534	332	Q>E		No	ClinGen gnomAD
rs973320083 CA21113263	333	K>R		No	ClinGen TOPMed gnomAD
CA794713 rs778631219	336	E>K		No	ClinGen ExAC TOPMed gnomAD
rs191761250 CA794714	338	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769086004 CA794715 RCV000602073	339	R>S		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA339896500 rs1376733025	344	N>D		No	ClinGen TOPMed gnomAD
CA339896508 rs568125894	344	N>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1306354092 CA339896513	345	L>F		No	ClinGen gnomAD
rs769840355 CA794718	346	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1413075576 CA339896954	348	A>V		No	ClinGen TOPMed
CA794746 rs760552579	349	A>V		No	ClinGen ExAC gnomAD
rs1167593525 RCV001195499	351	R>C		No	ClinVar dbSNP
rs764064113 CA794747	351	R>H		No	ClinGen ExAC TOPMed gnomAD
CA339896981 rs1167593525	351	R>S		No	ClinGen TOPMed gnomAD
rs1416600952 CA339896991	352	L>M		No	ClinGen TOPMed
CA339897016 rs1570835579	353	Y>S		No	ClinGen Ensembl
CA339897049 rs1347035442	356	D>N		No	ClinGen TOPMed gnomAD
rs750018672 CA794751	357	M>I		No	ClinGen ExAC gnomAD
rs764841987 CA794750	357	M>T		No	ClinGen ExAC gnomAD
rs781530919 CA794753	359	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs758101117 CA794752	359	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	360	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1001797721 CA21114878	364	A>G		No	ClinGen TOPMed
CA794755 rs756495387	364	A>T		No	ClinGen ExAC gnomAD
rs1287707773 CA339897152	365	T>S		No	ClinGen gnomAD
CA794756 rs575565145	366	W>C		No	ClinGen 1000Genomes ExAC gnomAD
rs1261975746 CA339897186	368	Y>F		No	ClinGen gnomAD
CA21114892 rs1034909303	368	Y>H		No	ClinGen TOPMed gnomAD
CA794757 rs374483854	370	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	371	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA794758 rs770897499	372	I>S		No	ClinGen ExAC TOPMed gnomAD
CA794760 rs746073761	373	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA339897890 rs1170528770	379	L>P		No	ClinGen gnomAD
CA21116193 rs563771503	380	A>D		No	ClinGen 1000Genomes
CA339897907 rs1402193029	381	L>F		No	ClinGen gnomAD
rs910835263 CA339897913	381	L>P		No	ClinGen gnomAD
rs910835263 CA21116194	381	L>R		No	ClinGen gnomAD
rs1243410602 CA339897934	383	F>I		No	ClinGen gnomAD
CA339897963 rs1375791689	385	H>Y		No	ClinGen TOPMed
rs1301376340 CA339897971	386	V>M		No	ClinGen TOPMed gnomAD
rs976622606 CA21116201	388	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
RCV000150877 CA176473 rs371079509	388	R>W		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA339897989 rs1458459083	389	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA21116205 rs923438571	389	A>V		No	ClinGen gnomAD
CA794790 rs557161892	390	R>C		No	ClinGen ExAC
CA21116222 rs529372797	390	R>H		No	ClinGen TOPMed gnomAD
rs776543310 CA794791	391	N>D		No	ClinGen ExAC gnomAD
rs1256669515 CA339898000	391	N>S		No	ClinGen TOPMed gnomAD
CA339898007 rs1470240977	392	G>E		No	ClinGen gnomAD
CA339898010 rs1266771613	393	G>S		No	ClinGen gnomAD
CA794794 rs773034045	395	R>Q		No	ClinGen ExAC gnomAD
rs373405864 CA794793	395	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1169737103 CA339898028	396	P>L		No	ClinGen gnomAD
rs904001184 CA21116256	396	P>S		No	ClinGen TOPMed gnomAD
rs773975779 RCV000216240 CA794796 RCV001853455	398	E>G		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA794797 rs370066980	399	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA794798 rs764363403	400	R>Q		No	ClinGen ExAC TOPMed gnomAD
RCV000807343 CA339898047 rs1239252987	400	R>W		No	ClinGen ClinVar dbSNP gnomAD
TCGA novel	401	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs551509351 CA794800	401	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754165873 CA794799 RCV000215857	401	R>W	Variant assessed as Somatic; 6.411e-05 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs201832976 CA21116284	402	A>G		No	ClinGen TOPMed gnomAD
rs201832976 CA339898057	402	A>V		No	ClinGen TOPMed gnomAD
rs887762794 CA21116292	403	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA339898075 rs1487533992	405	P>L		No	ClinGen TOPMed gnomAD
CA339898076 rs1264123218 RCV000608225	406	D>N		No	ClinGen ClinVar dbSNP gnomAD
CA794805 rs367922521	407	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs755290873 CA794806	409	P>S		No	ClinGen ExAC gnomAD
CA21116338 rs912699149	410	S>P		No	ClinGen Ensembl
rs199809248 CA794807 RCV000880573 RCV000825178	411	R>C		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs373727071 CA794808	411	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA339898105 rs199809248	411	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA794810 rs773106573	412	Y>N		No	ClinGen ExAC TOPMed gnomAD
rs1399019578 CA339898120	413	P>L		No	ClinGen TOPMed gnomAD
rs749277116 CA794811	413	P>S		No	ClinGen ExAC gnomAD
CA794815 rs767141905	415	V>I		No	ClinGen ExAC TOPMed gnomAD
CA339898138 rs555850253	417	T>A		No	ClinGen 1000Genomes gnomAD
CA339898142 rs1242348221	417	T>I		No	ClinGen gnomAD
CA21116377 rs555850253	417	T>P		No	ClinGen 1000Genomes gnomAD
rs576041348 CA794817	420	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA794819 rs750942862	421	P>L		No	ClinGen ExAC gnomAD
rs750942862 CA339898165	421	P>Q		No	ClinGen ExAC gnomAD
CA339898169 rs1255322959	422	G>D		No	ClinGen gnomAD
CA794820 rs766559631	422	G>S		No	ClinGen ExAC gnomAD
CA794821 rs368294870	423	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA176477 RCV000150879 rs368294870	423	S>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs781424101 CA794822	425	S>A		No	ClinGen ExAC TOPMed gnomAD
CA339898188 rs1418629691	425	S>F		No	ClinGen gnomAD
CA794825 rs777606986	427	C>F		No	ClinGen ExAC gnomAD
RCV001195500 rs932108929 CA21116425	428	P>L		No	ClinGen ClinVar TOPMed dbSNP
CA794826 rs749223967	428	P>S		No	ClinGen ExAC TOPMed gnomAD
rs749223967 CA339898204	428	P>T		No	ClinGen ExAC TOPMed gnomAD
CA339898208 rs1377532661	429	G>R		No	ClinGen gnomAD
CA794827 rs572530099	430	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778836515 CA794828	431	S>R		No	ClinGen ExAC
rs559233008 CA794857	433	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA21083140 rs559233008	433	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA794856 RCV000519363 COSM1211637 rs760023398	433	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs1240213228 CA339885898	434	M>I		No	ClinGen TOPMed
rs1284818966 CA339885908	435	G>D		No	ClinGen gnomAD
rs1348125794 CA339885924	437	K>Q		No	ClinGen gnomAD
CA339885944 rs1570847595	438	D>A		No	ClinGen Ensembl
rs145573794 CA794858	439	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA794859 rs760822719	439	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs764251838 CA794860	441	R>C		No	ClinGen ExAC TOPMed gnomAD
CA794861 rs201271940	441	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA339885975 rs201271940	441	R>L		No	ClinGen 1000Genomes ExAC gnomAD
rs368850546 CA794863	442	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA339885977 CA339885979 rs757017689	442	M>L		No	ClinGen ExAC gnomAD
rs142453905 RCV000150880 RCV002055976 CA176479	442	M>T		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA794862 rs757017689	442	M>V		No	ClinGen ExAC gnomAD
CA339886013 rs1479131172	445	S>F		No	ClinGen gnomAD
CA794865 rs780044343	447	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA794864 rs758333323	447	R>W		No	ClinGen ExAC TOPMed gnomAD
rs754553567 CA794867	448	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA794866 rs535365858	448	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1570847758 CA339886065	449	T>A		No	ClinGen Ensembl
rs371267877 CA794868	449	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA339886084 rs1270002554	450	G>S		No	ClinGen TOPMed
CA339886095 rs1570847799	450	G>V		No	ClinGen Ensembl
rs1333561378 CA339886111	451	P>L		No	ClinGen gnomAD
CA339886133 rs1234960574	453	K>Q		No	ClinGen gnomAD
rs1275135978 CA339886140	453	K>R		No	ClinGen gnomAD
CA794871 rs774648480	454	Q>E		No	ClinGen ExAC gnomAD
CA794872 rs746252542	455	H>R		No	ClinGen ExAC gnomAD
CA339886175 rs1202201690	455	H>Y		No	ClinGen TOPMed gnomAD
rs776087577 CA794873	457	A>T		No	ClinGen ExAC TOPMed gnomAD
CA339886237 rs1010168019	458	P>S		No	ClinGen gnomAD
RCV000492993 CA21083207 rs1010168019	458	P>T		No	ClinGen ClinVar dbSNP gnomAD
rs1435038472 CA339886260	459	P>R		No	ClinGen gnomAD
CA21083209 rs923094535	460	T>A		No	ClinGen TOPMed
rs1199822160 CA339886309	461	M>T		No	ClinGen TOPMed gnomAD
CA339886359 rs1570847990	463	T>I		No	ClinGen Ensembl
CA339886345 rs1570847982	463	T>P		No	ClinGen Ensembl
rs144177723 CA794874	465	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs764200624 CA794875	466	S>G		No	ClinGen ExAC gnomAD
CA339886433 rs1466083610	467	S>N		No	ClinGen gnomAD
CA794877 rs574794136	468	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1388047985 CA339886488	469	Q>*		No	ClinGen gnomAD
CA339886495 rs1285008072	469	Q>H		No	ClinGen TOPMed
RCV000600694 rs1553168273 CA339886491	469	Q>R		No	ClinGen ClinVar Ensembl dbSNP
CA794878 rs765075433	470	V>M		No	ClinGen ExAC gnomAD
TCGA novel	472	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758221510 CA794880	474	T>I		No	ClinGen ExAC TOPMed gnomAD
CA21083263 rs1029196029	475	S>R		No	ClinGen Ensembl
CA794882 rs148048793	477	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1384079140 CA339886652	477	T>S		No	ClinGen TOPMed
CA339886671 rs1570848170	478	K>M		No	ClinGen Ensembl
rs1302331932 CA339886677	479	V>L		No	ClinGen TOPMed
RCV001215415 rs1648636515	480	Q>*		No	ClinVar dbSNP
rs1156621502 CA339886750	483	W>C		No	ClinGen gnomAD
CA794883 rs368785566	486	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA339886812 rs1467055723	486	N>Y		No	ClinGen TOPMed
rs557521797 CA794885	488	R>C		No	ClinGen ExAC gnomAD
CA794886 rs371301199	488	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs557521797 CA794884	488	R>S		No	ClinGen ExAC gnomAD
CA21083293 rs373652215	489	T>I		No	ClinGen ESP TOPMed gnomAD
COSM325594 CA794888 rs746170447	490	R>C	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA794889 rs772518738	490	R>H		No	ClinGen ExAC TOPMed gnomAD
CA339886860 rs1169633047	491	F>Y		No	ClinGen gnomAD
CA794890 rs775830606	492	R>L		No	ClinGen ExAC TOPMed gnomAD
RCV000260190 CA794891 rs775830606	492	R>Q		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA339886865 rs1371296507	492	R>W		No	ClinGen TOPMed gnomAD
rs768707518 CA794892	493	A>T		No	ClinGen ExAC gnomAD
CA21083318 rs577314845	496	R>G		No	ClinGen 1000Genomes
CA339886896 rs1402714730	497	L>F		No	ClinGen gnomAD
CA339886920 rs1299717259	499	P>L		No	ClinGen gnomAD
CA794893 rs776756980	500	R>C		No	ClinGen ExAC TOPMed gnomAD
CA794894 rs776756980	500	R>G		No	ClinGen ExAC TOPMed gnomAD
rs201025485 CA794895	500	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA794896 rs200391496	501	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1362768846 CA339886932	501	T>P		No	ClinGen TOPMed gnomAD
rs1245539500 CA339886988	504	E>A		No	ClinGen gnomAD
rs1291139157 CA339887003	505	D>N		No	ClinGen gnomAD
CA794920 RCV000615810 rs145732892	506	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA339887310 rs1222267031	507	P>S		No	ClinGen gnomAD
rs1204094308 CA339887513	510	E>*		No	ClinGen gnomAD
CA794924 RCV002519633 rs778538229 RCV000219909	511	V>I		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA794925 rs751860374	516	S>N		No	ClinGen ExAC gnomAD
CA794926 rs755354484	516	S>R		No	ClinGen ExAC gnomAD
rs781634436 CA794927	519	C>R		No	ClinGen ExAC gnomAD
rs777964870 CA794930	523	V>M		No	ClinGen ExAC TOPMed gnomAD
CA794932 rs771129024	525	D>N		No	ClinGen ExAC TOPMed gnomAD
CA794933 rs774736966	526	I>V		No	ClinGen ExAC gnomAD
rs1353988025 CA339887728	527	M>I		No	ClinGen gnomAD
rs772037173 CA794935	529	A>T		No	ClinGen ExAC gnomAD
CA21084654 rs1012161949	535	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA339887818 rs1282404548	535	R>H		No	ClinGen gnomAD
CA10576426 rs876657837 RCV000223631	537	I>M		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA21084669 rs878984824	537	I>V		No	ClinGen Ensembl
rs1385928018 CA339887941	538	R>S		No	ClinGen gnomAD
CA794937 rs760726620	538	R>T		No	ClinGen ExAC gnomAD
rs772827842 CA794961	539	I>N		No	ClinGen ExAC gnomAD
rs577823810 CA21085972	545	A>T		No	ClinGen 1000Genomes
CA339888110 rs1362729181	549	F>L		No	ClinGen gnomAD
CA339888124 rs1421240079	550	K>R		No	ClinGen gnomAD
rs376909924 CA21085992	554	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs376909924 CA794964	554	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1168592136 CA339888165	554	R>Q		No	ClinGen TOPMed
CA794966 COSM188029 rs764622728	555	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs140945833 CA794969	556	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs979197528 CA21086029	556	Y>C		No	ClinGen TOPMed
CA339888198 rs1410332157	557	D>Y		No	ClinGen Ensembl
CA339888214 rs746765804	558	V>L		No	ClinGen ExAC TOPMed gnomAD
CA794971 COSM1290196 rs746765804	558	V>M	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs370248473 CA21086057	561	V>I		No	ClinGen ESP TOPMed gnomAD
rs1241069895 CA339888541	568	G>D		No	ClinGen TOPMed gnomAD
rs1212832238 CA339888569	569	H>R		No	ClinGen gnomAD
CA339888606 rs1285069953	570	L>V		No	ClinGen TOPMed
CA339889167 rs1181851856	575	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1444049079 CA339889163	575	R>W		No	ClinGen gnomAD
rs770523151 CA794978	582	R>Q		No	ClinGen ExAC gnomAD
rs1470631042 CA339889346	582	R>W		No	ClinGen TOPMed gnomAD
TCGA novel	586	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1248614084 CA339889748	588	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM3805219 CA339889752 rs1570856786	589	R>W	breast [Cosmic]	No	ClinGen cosmic curated Ensembl
CA339889761 rs1304409022	590	G>V		No	ClinGen TOPMed
CA339889769 CA339889770 COSM1342648 rs1200500779	592	G>R	Variant assessed as Somatic; 4.781e-05 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated gnomAD NCI-TCGA
CA795002 rs765786785	594	R>K		No	ClinGen ExAC TOPMed gnomAD
rs1374755627 CA339889804	597	R>L		No	ClinGen gnomAD
CA795004 rs763090770	597	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA339889818 rs1462010485	599	K>R		No	ClinGen gnomAD
CA795005 rs766417494	600	G>D		No	ClinGen ExAC gnomAD
CA10576427 rs876657838 RCV000216652	601	D>Y		No	ClinGen ClinVar TOPMed dbSNP
rs751793378 CA795006	602	K>E		No	ClinGen ExAC gnomAD
CA795007 rs755220278	603	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA339889843 rs1345234931	603	G>V		No	ClinGen gnomAD
rs781479643 CA795008	605	S>Y		No	ClinGen ExAC gnomAD
rs139835231 CA339889861 RCV000150882 RCV000884280 CA176483	606	D>E		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs938608196 CA21088085	606	D>N		No	ClinGen gnomAD
CA795009 rs373302459	606	D>V		No	ClinGen ESP ExAC gnomAD
rs1480502533 CA339889862	607	A>T		No	ClinGen TOPMed
CA339889880 rs1318454720	609	V>A		No	ClinGen gnomAD
rs777656364 CA795011	610	V>L		No	ClinGen ExAC TOPMed gnomAD
CA795010 rs777656364	610	V>M		No	ClinGen ExAC TOPMed gnomAD
CA795012 rs770464964	611	D>G		No	ClinGen ExAC gnomAD
TCGA novel	611	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1053997001 CA21088132	612	E>D		No	ClinGen TOPMed
CA795013 rs778358686	613	I>V		No	ClinGen ExAC TOPMed gnomAD
CA339889923 rs1319441480	614	S>G		No	ClinGen TOPMed
rs183328763 CA795015	616	M>I		No	ClinGen 1000Genomes ExAC gnomAD
CA339889961 rs1570857057	616	M>L		No	ClinGen Ensembl
TCGA novel	618	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1370815453 CA339890025	619	V>L		No	ClinGen TOPMed gnomAD
rs1426047424 CA339890098	622	V>L		No	ClinGen gnomAD
rs1426047424 CA339890093	622	V>M		No	ClinGen gnomAD
rs1157394287 CA339890325	627	Q>*		No	ClinGen gnomAD
rs1247386832 CA339890389	630	E>Q		No	ClinGen TOPMed
rs989457720 CA21088584	631	H>R		No	ClinGen TOPMed gnomAD
rs1403978262 CA339890470	634	D>Y		No	ClinGen gnomAD
CA339890491 rs563325444	635	L>P		No	ClinGen 1000Genomes ExAC gnomAD
CA795041 rs563325444	635	L>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1335295382 CA339890530	637	L>F		No	ClinGen gnomAD
rs1414200298 CA339890524	637	L>S		No	ClinGen gnomAD
rs759506278 CA795042	638	G>R		No	ClinGen ExAC gnomAD
rs759506278 CA339890546	638	G>S		No	ClinGen ExAC gnomAD
CA339890635 rs1356285680	641	S>*		No	ClinGen TOPMed
rs1325491212 CA339890658	642	R>L		No	ClinGen gnomAD
CA339890679 rs1311054891 COSM535212	643	C>F	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA339890712 rs1428248589	645	R>H		No	ClinGen gnomAD
CA339890766 rs1262477201	649	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs982728141 CA21088641	650	A>S		No	ClinGen TOPMed
CA185147 RCV000156592 rs727505133	652	L>V		No	ClinGen ClinVar Ensembl dbSNP
RCV000220330 rs876657839 CA10576428	653	G>S		No	ClinGen ClinVar Ensembl dbSNP
rs1309895147 CA339890838	653	G>V		No	ClinGen gnomAD
rs1480110676 CA339890878	655	V>A		No	ClinGen gnomAD
rs764309008 CA795046	655	V>L		No	ClinGen ExAC TOPMed gnomAD
CA21088666 rs960662188	657	V>A		No	ClinGen gnomAD
CA795048 COSM3689693 rs757100858	657	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA795049 rs374409211	658	P>Q		No	ClinGen ESP ExAC gnomAD
rs991100263 CA21088670	658	P>S		No	ClinGen TOPMed
rs757820200 CA795051	659	L>P		No	ClinGen ExAC TOPMed gnomAD
CA339891062 rs1362192848	660	F>L		No	ClinGen TOPMed
CA339891064 rs1171470293	661	D>N		No	ClinGen TOPMed
rs941726067 CA21088699	663	D>A		No	ClinGen TOPMed gnomAD
rs746654848 CA795053	663	D>N		No	ClinGen ExAC TOPMed gnomAD
CA339891118 rs941726067	663	D>V		No	ClinGen TOPMed gnomAD
rs1263179330 CA339891130	664	I>V		No	ClinGen TOPMed
CA21088704 rs913125224	665	T>S		No	ClinGen TOPMed gnomAD
CA339891186 rs1282504981	667	D>A		No	ClinGen gnomAD
CA339891204 rs1278668958	668	Y>C		No	ClinGen TOPMed
CA795056 rs781002955	668	Y>H		No	ClinGen ExAC TOPMed gnomAD
RCV000217792 rs749565877 CA795057 RCV002262808	669	H>R		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA21088727 rs897614842	670	S>N		No	ClinGen TOPMed gnomAD
rs754076761 CA795058	672	V>M		No	ClinGen ExAC TOPMed gnomAD
CA339891343 rs1202563907	675	E>Q		No	ClinGen TOPMed gnomAD
TCGA novel	676	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746444992 CA795060	678	S>P		No	ClinGen ExAC TOPMed gnomAD
CA21088746 rs931749137	683	T>K		No	ClinGen gnomAD
CA21088748 rs566247637	685	S>G		No	ClinGen 1000Genomes gnomAD
rs1165663726 CA339891579	686	I>V		No	ClinGen gnomAD
CA795063 rs528812659	687	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776946822 CA795064	688	R>C		No	ClinGen ExAC gnomAD
rs776946822 CA339891617	688	R>G		No	ClinGen ExAC gnomAD
CA795065 rs761479115	688	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs761479115 CA795066	688	R>L		No	ClinGen ExAC gnomAD
CA795067 rs761479115	688	R>P		No	ClinGen ExAC gnomAD
CA339891647 rs777429489	689	S>L		No	ClinGen ExAC TOPMed gnomAD
CA795068 rs777429489	689	S>W		No	ClinGen ExAC TOPMed gnomAD
rs754555626 CA795071	690	V>F		No	ClinGen ExAC TOPMed gnomAD
rs200757822 CA795072	691	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA795073 rs568378556	693	N>S		No	ClinGen 1000Genomes ExAC
rs1316637735 CA339891722	693	N>Y		No	ClinGen gnomAD
CA339891754 rs1359711459	694	M>T		No	ClinGen gnomAD
CA339891781 rs1221362623	695	D>G		No	ClinGen gnomAD
rs1422986789 CA339891770	695	D>N		No	ClinGen TOPMed
rs757548541 CA795074	696	D>C		No	ClinGen ExAC gnomAD
RCV000487526 CA16621562 rs748770400	696	D>G		No	ClinGen ClinVar TOPMed dbSNP
rs748770400 CA21088804	696	D>R		No	ClinGen TOPMed

1 associated diseases with P56696

[MIM: 600101]: Deafness, autosomal dominant, 2A (DFNA2A)

A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:10025409, ECO:0000269|PubMed:10369879, ECO:0000269|PubMed:10571947, ECO:0000269|PubMed:10925378, ECO:0000269|PubMed:21242547}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:10025409, ECO:0000269|PubMed:10369879, ECO:0000269|PubMed:10571947, ECO:0000269|PubMed:10925378, ECO:0000269|PubMed:21242547}. Note=The disease is caused by variants affecting the gene represented in this entry.

2 regional properties for P56696

Type	Name	Position	InterPro Accession
domain	Ion transport domain	100 - 324	IPR005821
domain	Potassium channel, voltage dependent, KCNQ, C-terminal	464 - 646	IPR013821

Functions

		Description
EC Number
Subcellular Localization	Basal cell membrane; Multi-pass membrane protein	Situated at the basal membrane of cochlear outer hair cells
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
basal plasma membrane	The region of the plasma membrane located at the basal end of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis.
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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
voltage-gated potassium channel complex	A protein complex that forms a transmembrane channel through which potassium ions may cross a cell membrane in response to changes in membrane potential.

4 GO annotations of molecular function

Name	Definition
calmodulin binding	Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states.
delayed rectifier potassium channel activity	Enables the transmembrane transfer of a potassium ion by a delayed rectifying voltage-gated channel. A delayed rectifying current-voltage relation is one where channel activation kinetics are time-dependent, and inactivation is slow.
potassium channel activity	Enables the facilitated diffusion of a potassium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism.
voltage-gated potassium channel activity	Enables the transmembrane transfer of a potassium ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded.

5 GO annotations of biological process

Name	Definition
inner ear morphogenesis	The process in which the anatomical structures of the inner ear are generated and organized. The inner ear is the structure in vertebrates that contains the organs of balance and hearing. It consists of soft hollow sensory structures (the membranous labyrinth) containing fluid (endolymph) surrounded by fluid (perilymph) and encased in a bony cavity (the bony labyrinth). It consists of two chambers, the sacculus and utriculus, from which arise the cochlea and semicircular canals respectively.
potassium ion transmembrane transport	A process in which a potassium ion is transported from one side of a membrane to the other.
potassium ion transport	The directed movement of potassium ions (K+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
regulation of ion transmembrane transport	Any process that modulates the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other.
sensory perception of sound	The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound.

8 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P58126	KCNQ3	Potassium voltage-gated channel subfamily KQT member 3	Bos taurus (Bovine)	PR
O43525	KCNQ3	Potassium voltage-gated channel subfamily KQT member 3	Homo sapiens (Human)	PR
Q9JK45	Kcnq5	Potassium voltage-gated channel subfamily KQT member 5	Mus musculus (Mouse)	PR
P97414	Kcnq1	Potassium voltage-gated channel subfamily KQT member 1	Mus musculus (Mouse)	PR
Q8K3F6	Kcnq3	Potassium voltage-gated channel subfamily KQT member 3	Mus musculus (Mouse)	PR
Q9JK97	Kcnq4	Potassium voltage-gated channel subfamily KQT member 4	Mus musculus (Mouse)	PR
Q9JK96	Kcnq4	Potassium voltage-gated channel subfamily KQT member 4	Rattus norvegicus (Rat)	PR
O88944	Kcnq3	Potassium voltage-gated channel subfamily KQT member 3	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MAEAPPRRLG	LGPPPGDAPR	AELVALTAVQ	SEQGEAGGGG	SPRRLGLLGS	PLPPGAPLPG
70	80	90	100	110	120
PGSGSGSACG	QRSSAAHKRY	RRLQNWVYNV	LERPRGWAFV	YHVFIFLLVF	SCLVLSVLST
130	140	150	160	170	180
IQEHQELANE	CLLILEFVMI	VVFGLEYIVR	VWSAGCCCRY	RGWQGRFRFA	RKPFCVIDFI
190	200	210	220	230	240
VFVASVAVIA	AGTQGNIFAT	SALRSMRFLQ	ILRMVRMDRR	GGTWKLLGSV	VYAHSKELIT
250	260	270	280	290	300
AWYIGFLVLI	FASFLVYLAE	KDANSDFSSY	ADSLWWGTIT	LTTIGYGDKT	PHTWLGRVLA
310	320	330	340	350	360
AGFALLGISF	FALPAGILGS	GFALKVQEQH	RQKHFEKRRM	PAANLIQAAW	RLYSTDMSRA
370	380	390	400	410	420
YLTATWYYYD	SILPSFRELA	LLFEHVQRAR	NGGLRPLEVR	RAPVPDGAPS	RYPPVATCHR
430	440	450	460	470	480
PGSTSFCPGE	SSRMGIKDRI	RMGSSQRRTG	PSKQHLAPPT	MPTSPSSEQV	GEATSPTKVQ
490	500	510	520	530	540
KSWSFNDRTR	FRASLRLKPR	TSAEDAPSEE	VAEEKSYQCE	LTVDDIMPAV	KTVIRSIRIL
550	560	570	580	590	600
KFLVAKRKFK	ETLRPYDVKD	VIEQYSAGHL	DMLGRIKSLQ	TRVDQIVGRG	PGDRKAREKG
610	620	630	640	650	660
DKGPSDAEVV	DEISMMGRVV	KVEKQVQSIE	HKLDLLLGFY	SRCLRSGTSA	SLGAVQVPLF
670	680	690
DPDITSDYHS	PVDHEDISVS	AQTLSISRSV	STNMD