AiPD: Autoinhibited Protein Database

Q8IYG6

Gene name	LRRC56
Protein name	Leucine-rich repeat-containing protein 56
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:115399
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

424-500 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

424-500 (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 Q8IYG6

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8IYG6-F1	Predicted				AlphaFoldDB

596 variants for Q8IYG6

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
VAR_081775 CA378940009 RCV000735804 rs1564805039	140	L>P	Ciliary dyskinesia, primary, 39 CILD39 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA5779810 RCV000735805 rs372959912	254	E>*	Ciliary dyskinesia, primary, 39 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
VAR_081776	254	E>del	CILD39 [UniProt]	Yes	UniProt
rs200080904 CA5779464	2	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA216887127 rs1034785738	3	L>M		No	ClinGen TOPMed gnomAD
CA5779465 rs755749866	4	G>D		No	ClinGen ExAC gnomAD
CA216887131 rs956545115	5	W>*		No	ClinGen Ensembl
CA5779467 rs753405334	5	W>R		No	ClinGen ExAC gnomAD
CA378929849 rs1463615364	8	S>A		No	ClinGen gnomAD
rs1383787536 CA378929860	8	S>C		No	ClinGen TOPMed
rs142967139 CA378929875	9	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778566046 CA5779470	9	R>H		No	ClinGen ExAC TOPMed gnomAD
rs778566046 CA5779469	9	R>L		No	ClinGen ExAC TOPMed gnomAD
CA5779468 rs142967139	9	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378929899 rs1589803473	10	G>E		No	ClinGen Ensembl
rs1589803479 CA378929936	11	P>S		No	ClinGen Ensembl
CA378929956 rs2277269	12	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs2277269 CA5779472 VAR_034090	12	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs758355320 CA5779471	12	R>W		No	ClinGen ExAC TOPMed gnomAD
rs746762994 CA378929966	13	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5779474 rs769932469	13	R>Q	Variant assessed as Somatic; 4.843e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs746762994 CA5779473	13	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA378930066 rs1409473844	15	T>N		No	ClinGen gnomAD
CA5779477 rs768838678	16	S>T		No	ClinGen ExAC gnomAD
CA5779478 rs774355719	17	S>N		No	ClinGen ExAC gnomAD
CA5779482 rs772525350	18	V>F		No	ClinGen ExAC TOPMed
COSM1354346 rs772525350 CA5779480	18	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
CA5779484 rs144525570	19	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5779483 rs576330767	19	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378930268 rs1288320716	20	V>M		No	ClinGen gnomAD
CA5779487 rs759101276	21	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5779486 rs753597038	21	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5779488 rs764857001	22	E>*		No	ClinGen ExAC gnomAD
CA216887193 rs752190574	24	S>R		No	ClinGen ExAC gnomAD
COSM927893 rs371418306 CA5779490	25	W>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA378930495 rs1490458787	26	Q>*		No	ClinGen gnomAD
CA378930556 rs777804958	27	G>D		No	ClinGen ExAC gnomAD
CA5779491 rs777804958	27	G>V		No	ClinGen ExAC gnomAD
rs749536958 CA5779495	29	H>P		No	ClinGen ExAC TOPMed gnomAD
rs766213942 CA216887231	29	H>Y		No	ClinGen Ensembl
rs948711352 CA216887242	31	P>L		No	ClinGen gnomAD
CA5779496 rs768797580	31	P>S		No	ClinGen ExAC gnomAD
CA5779498 rs748174388	32	C>Y		No	ClinGen ExAC gnomAD
CA216887262 rs773744894	33	P>L		No	ClinGen ExAC TOPMed gnomAD
rs773744894 CA5779500	33	P>R		No	ClinGen ExAC TOPMed gnomAD
rs771388679 CA5779502	35	S>N		No	ClinGen ExAC TOPMed gnomAD
CA378930995 rs1423453636	37	G>S		No	ClinGen TOPMed
CA378931034 rs1339983101	38	P>R		No	ClinGen gnomAD
CA216887268 rs572294758	39	G>D		No	ClinGen 1000Genomes TOPMed gnomAD
rs759234077 CA5779504	39	G>S		No	ClinGen ExAC gnomAD
rs764945065 CA378931097	40	S>I		No	ClinGen ExAC gnomAD
CA5779505 rs764945065 COSM3375839	40	S>T	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA216887281 rs1056311315	42	R>K		No	ClinGen TOPMed gnomAD
CA378931144 rs1056311315	42	R>M		No	ClinGen TOPMed gnomAD
rs371111788 CA5779508	45	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA5779507 rs371111788	45	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1255324797 CA378931234	46	G>A		No	ClinGen gnomAD
CA5779509 rs751572567	50	V>M		No	ClinGen ExAC gnomAD
rs372922076 CA216887306	56	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	56	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5779511 rs372922076	56	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5779510 rs372922076	56	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1338975598 CA378931470	57	A>T		No	ClinGen TOPMed
CA5779512 rs750143028	57	A>V		No	ClinGen ExAC TOPMed gnomAD
CA378931484 rs755213437	58	R>G		No	ClinGen ExAC TOPMed gnomAD
CA216887333 rs1022447291	58	R>Q		No	ClinGen TOPMed gnomAD
CA5779513 rs755213437	58	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1317253363 CA378931510	59	L>M		No	ClinGen gnomAD
rs773932628 CA5779545	60	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA5779546 rs761275896	61	A>T		No	ClinGen ExAC gnomAD
CA5779549 rs760588498	62	L>P		No	ClinGen ExAC gnomAD
CA216887715 rs960087416	63	A>G		No	ClinGen TOPMed gnomAD
rs1157007643 CA378932561	63	A>T		No	ClinGen gnomAD
rs143908864 CA5779552	64	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143908864 CA5779551	64	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766177788 CA5779550	64	R>W		No	ClinGen ExAC TOPMed gnomAD
CA378932643 rs1328355655	66	D>G		No	ClinGen gnomAD
rs369591700 CA5779554	66	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs147284744 CA5779556	68	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA5779558 rs142995604	69	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5779559 rs142995604	69	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5779557 rs377700269	69	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5779561 rs749620469	73	T>K		No	ClinGen ExAC TOPMed gnomAD
COSM3383542 CA5779560 rs749620469	73	T>M	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5779563 rs747828088	77	C>G		No	ClinGen ExAC gnomAD
CA5779564 rs771535672	78	V>A		No	ClinGen ExAC gnomAD
rs760614841 CA5779566	79	D>E		No	ClinGen ExAC gnomAD
rs772654220 CA5779565	79	D>G		No	ClinGen ExAC gnomAD
CA378933004 rs1175931901	79	D>Y		No	ClinGen TOPMed gnomAD
CA5779567 rs770817592	80	T>A		No	ClinGen ExAC gnomAD
CA216887760 rs371006219	81	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5779568 rs371006219	81	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA5779570 rs116866926	81	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5779569 rs116866926	81	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762082968 CA5779572	84	S>N		No	ClinGen ExAC gnomAD
CA5779574 rs750491217	84	S>R		No	ClinGen ExAC TOPMed gnomAD
rs751795941 CA5779571	84	S>R		No	ClinGen ExAC gnomAD
rs762082968 CA5779573	84	S>T		No	ClinGen ExAC gnomAD
CA378933207 rs1400507365	88	F>S		No	ClinGen TOPMed
rs756708516 CA5779575	89	G>R		No	ClinGen ExAC gnomAD
CA5779614 rs749154374	90	V>M		No	ClinGen ExAC gnomAD
CA378934968 rs1235348499	91	H>P		No	ClinGen TOPMed
CA5779615 rs768539296	91	H>Y		No	ClinGen ExAC gnomAD
rs536973106 CA5779616	94	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA5779619 rs776703276	96	D>N		No	ClinGen ExAC TOPMed gnomAD
rs759995059 CA5779620	100	L>P		No	ClinGen ExAC gnomAD
CA216889101 rs1011007368	100	L>V		No	ClinGen Ensembl
rs759067534 CA5779623	102	G>S		No	ClinGen ExAC TOPMed gnomAD
rs751271157 CA5779625	104	H>Y		No	ClinGen ExAC gnomAD
rs144587378 CA5779626	106	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5779628 rs745333167	107	S>F		No	ClinGen ExAC gnomAD
CA5779630 rs780079731	108	L>P		No	ClinGen ExAC TOPMed gnomAD
CA5779629 rs755557772	108	L>V		No	ClinGen ExAC TOPMed gnomAD
rs749174582 CA378935762	109	R>G		No	ClinGen ExAC TOPMed gnomAD
rs749174582 CA5779631	109	R>W		No	ClinGen ExAC TOPMed gnomAD
CA5779663 rs760183162	110	D>E		No	ClinGen ExAC gnomAD
CA378939177 rs1394716852	111	L>V		No	ClinGen TOPMed
rs540874265 CA5779664	112	G>S		No	ClinGen 1000Genomes ExAC gnomAD
CA5779665 rs753355184	113	T>M		No	ClinGen ExAC TOPMed gnomAD
CA378939251 rs1372532421	114	S>C		No	ClinGen TOPMed
rs1384285624 CA378939266	115	L>V		No	ClinGen gnomAD
rs1003186733 CA216894477	116	G>A		No	ClinGen Ensembl
rs1442405108 CA378939311	117	H>Y		No	ClinGen gnomAD
rs752654529 CA5779668	119	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs758284462 CA5779669	120	V>M		No	ClinGen ExAC gnomAD
rs1201201733 CA378939519	122	W>C		No	ClinGen TOPMed
rs769843786 CA5779672	123	L>R		No	ClinGen ExAC gnomAD
CA5779673 rs780214877	124	A>T		No	ClinGen ExAC gnomAD
rs61747447 CA5779674	124	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768689157 CA5779675	125	R>C		No	ClinGen ExAC TOPMed gnomAD
CA216894510 rs768689157	125	R>G		No	ClinGen ExAC TOPMed gnomAD
rs371135949 CA5779676	125	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371135949 CA378939616	125	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378939672 rs1226394940	127	G>D		No	ClinGen gnomAD
CA5779677 rs61747450	128	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA216894546 rs113808353	129	A>T		No	ClinGen TOPMed gnomAD
CA378939708 rs1241989971	130	D>N		No	ClinGen gnomAD
rs1350792317 CA378939781	132	D>G		No	ClinGen gnomAD
CA5779680 rs760404776	133	G>A		No	ClinGen ExAC gnomAD
CA5779682 rs753522543	135	A>T		No	ClinGen ExAC gnomAD
CA216894573 rs1028384247	135	A>V		No	ClinGen gnomAD
CA5779685 rs764838991	137	L>S		No	ClinGen ExAC gnomAD
CA378939974 rs1405483101	138	P>L		No	ClinGen TOPMed gnomAD
CA5779687 rs758212552	141	K>Q		No	ClinGen ExAC gnomAD
CA378940151 rs1315742690	142	E>K		No	ClinGen gnomAD
rs752627628 CA5779706	144	Y>C		No	ClinGen ExAC gnomAD
rs143248513 CA5779708	145	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1048177249 CA216894696	146	S>A		No	ClinGen TOPMed gnomAD
rs202112560 CA216894721	147	Y>*		No	ClinGen ESP TOPMed gnomAD
rs1447892390 CA378940367	147	Y>D		No	ClinGen TOPMed
rs1447892390 CA378940347	147	Y>N		No	ClinGen TOPMed
CA216894707 rs909525339	147	Y>S		No	ClinGen TOPMed gnomAD
CA5779712 rs748577534	149	N>I		No	ClinGen ExAC gnomAD
rs748577534 CA216894730	149	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs762811585 CA216894745	150	I>V		No	ClinGen Ensembl
rs560844721 CA5779715	151	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA378940592 rs1368590691	152	D>G		No	ClinGen TOPMed
CA216894797 rs900775170	152	D>N		No	ClinGen TOPMed
CA5779717 rs371927586	155	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs371927586 CA378940711	155	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1372012604 CA378940735	156	L>P		No	ClinGen gnomAD
CA5779718 rs771483462	157	C>Y		No	ClinGen ExAC gnomAD
CA5779721 rs769532657	160	E>Q		No	ClinGen ExAC gnomAD
CA378940945 rs892177310	162	L>V		No	ClinGen TOPMed
CA216894823 rs945596282	162	L>W		No	ClinGen Ensembl
rs775163970 CA378941023	163	E>D		No	ClinGen ExAC
CA378941037 rs1564805326	164	V>L		No	ClinGen Ensembl
rs762420823 CA5779724	165	L>V		No	ClinGen ExAC gnomAD
CA216894829 rs1052329242	166	D>Y		No	ClinGen TOPMed gnomAD
rs1271627313 CA378941193	169	G>D		No	ClinGen TOPMed
CA5779725 rs763653779	169	G>S		No	ClinGen ExAC gnomAD
rs1382459250 CA378941213	170	N>D		No	ClinGen gnomAD
rs774212014 CA5779726	171	S>G		No	ClinGen ExAC gnomAD
rs1383189597 CA378941262	171	S>N		No	ClinGen gnomAD
rs768045549 CA5779728	172	V>M		No	ClinGen ExAC TOPMed gnomAD
CA5779730 rs371711502	174	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA216894847 rs904120453	174	D>H		No	ClinGen Ensembl
rs765489855 CA5779731	175	L>R		No	ClinGen ExAC TOPMed gnomAD
rs777899431 CA5779734	178	V>L		No	ClinGen ExAC TOPMed gnomAD
rs777899431 CA5779735	178	V>M		No	ClinGen ExAC TOPMed gnomAD
rs757772653 CA5779736	179	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5779737 rs781714672	179	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs61736743 CA378941673	182	Q>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs61736743 CA5779739	182	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	183	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748956653 CA5779742	185	P>S		No	ClinGen ExAC gnomAD
rs768064539 CA5779743	186	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5779744 rs773844710	186	R>H		No	ClinGen ExAC TOPMed gnomAD
rs150250470 CA216894911	188	A>V		No	ClinGen ESP gnomAD
CA378941937 rs1197442235	189	M>I		No	ClinGen gnomAD
CA5779749 rs773108706	189	M>L		No	ClinGen ExAC TOPMed gnomAD
CA5779751 rs760500404	191	T>I		No	ClinGen ExAC TOPMed gnomAD
CA378941995 rs760500404	191	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1450919389 CA378942015	192	L>V		No	ClinGen TOPMed
CA378942143 rs1450704431	194	G>D		No	ClinGen TOPMed gnomAD
CA5779752 rs766160691	195	N>K		No	ClinGen ExAC gnomAD
CA5779754 rs138918564	200	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA5779756 rs141865519	201	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs764089296 CA5779755	201	P>S		No	ClinGen ExAC gnomAD
rs750930970 CA5779759	202	A>G		No	ClinGen ExAC TOPMed gnomAD
rs781777229 CA5779758	202	A>T		No	ClinGen ExAC gnomAD
rs750930970 CA378942469	202	A>V		No	ClinGen ExAC TOPMed gnomAD
rs961390357 CA216894955	203	P>S		No	ClinGen TOPMed gnomAD
CA378942507 rs1241332987	204	G>V		No	ClinGen gnomAD
rs540712078 CA5779760	205	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA5779762 rs780406879	206	T>N		No	ClinGen ExAC
rs1369038619 CA378942549	206	T>P		No	ClinGen TOPMed
rs768313765 CA5779764	207	N>T		No	ClinGen ExAC gnomAD
CA216895818 rs895854243	209	V>L		No	ClinGen TOPMed gnomAD
rs895854243 CA378943060	209	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA378943117 rs1218995920	210	P>S		No	ClinGen gnomAD
CA378943156 rs1283170546	211	R>T		No	ClinGen Ensembl
rs1286474711 CA378943145	211	R>W		No	ClinGen gnomAD
rs1490113655 CA378943212	212	G>V		No	ClinGen gnomAD
CA378943286 rs1220192032	214	N>S		No	ClinGen TOPMed gnomAD
rs529085204 CA5779790	216	R>G		No	ClinGen 1000Genomes ExAC gnomAD
rs949268756 CA216895842	217	A>V		No	ClinGen TOPMed gnomAD
CA378943521 rs1361765391	219	V>A		No	ClinGen TOPMed gnomAD
CA378943529 rs1361765391	219	V>G		No	ClinGen TOPMed gnomAD
rs138291757 CA5779791	219	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378943536 rs1564806296	220	R>K		No	ClinGen Ensembl
CA378943623 rs1272838292	221	K>N		No	ClinGen TOPMed
rs1441179810 CA378943677	223	I>V		No	ClinGen gnomAD
CA216895870 rs1029822245	224	P>S		No	ClinGen TOPMed gnomAD
rs774783779 CA378943988	230	D>E		No	ClinGen ExAC TOPMed gnomAD
rs767709360 CA5779795	231	E>A		No	ClinGen ExAC gnomAD
CA5779794 rs373134692	231	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA216895894 rs373134692	231	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA378944032 rs1310199517	232	V>L		No	ClinGen gnomAD
CA5779796 rs118033321	233	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378944087 rs118033321	233	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378944141 rs1195101010	235	A>T		No	ClinGen TOPMed gnomAD
CA378944244 rs1564806429	237	T>K		No	ClinGen Ensembl
rs1247814974 CA378944207	237	T>P		No	ClinGen gnomAD
CA216895952 rs957054827	238	G>A		No	ClinGen TOPMed
CA378944293 rs1178915082	239	P>L		No	ClinGen gnomAD
rs1163103736 CA378944315	240	P>L		No	ClinGen TOPMed gnomAD
CA216895956 rs1019233501	240	P>S		No	ClinGen TOPMed gnomAD
rs915526911 CA216895959	241	A>D		No	ClinGen TOPMed gnomAD
rs915526911 CA378944352	241	A>V		No	ClinGen TOPMed gnomAD
rs1398229633 CA378944389	242	P>R		No	ClinGen TOPMed gnomAD
CA378944362 rs1349390954	242	P>T		No	ClinGen TOPMed
CA216895973 rs752363538	243	P>L		No	ClinGen ExAC TOPMed gnomAD
CA216895971 rs752363538	243	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA5779803 rs752363538	243	P>R		No	ClinGen ExAC TOPMed gnomAD
rs762528881	243	P>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA378944413 rs1332347515	243	P>S		No	ClinGen gnomAD
rs762528881	244	R>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA378944448 rs555652106	244	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs555652106 CA5779806	244	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs376758972 CA5779805	244	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5779807 rs756700603	246	S>N		No	ClinGen ExAC
CA378944550 rs1471815999	247	Q>H		No	ClinGen TOPMed
CA378944527 rs1256050958	247	Q>K		No	ClinGen gnomAD
CA378944541 rs937400903	247	Q>L		No	ClinGen TOPMed gnomAD
CA216895986 rs937400903	247	Q>R		No	ClinGen TOPMed gnomAD
CA378944556 rs1198715603	248	D>N		No	ClinGen gnomAD
rs1262195515 CA378944588	249	W>R		No	ClinGen TOPMed gnomAD
rs781231221 CA378944626	251	A>E		No	ClinGen ExAC TOPMed gnomAD
CA216895989 rs992940439	251	A>S		No	ClinGen gnomAD
rs781231221 CA5779808	251	A>V		No	ClinGen ExAC TOPMed gnomAD
CA216896027 rs899784264	254	E>A		No	ClinGen TOPMed gnomAD
rs372959912 CA216895998	254	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA378944720 rs1185878128	255	A>T		No	ClinGen gnomAD
CA216896044 rs923820587	255	A>V		No	ClinGen Ensembl
CA378944765 rs1467298741	257	K>N		No	ClinGen TOPMed gnomAD
CA378944757 rs1307538912	257	K>R		No	ClinGen TOPMed
CA216896063 rs201686877	258	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5779811 rs201686877	258	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378944803 rs1054027491	259	G>C		No	ClinGen TOPMed gnomAD
CA216896068 rs1054027491	259	G>S		No	ClinGen TOPMed gnomAD
CA5779814 rs773545366	261	G>S		No	ClinGen ExAC TOPMed gnomAD
CA378944884 rs1381423046	262	L>F		No	ClinGen gnomAD
rs1276296246 CA378944909	263	P>L		No	ClinGen gnomAD
rs1166341360 CA378944902	263	P>S		No	ClinGen gnomAD
rs564607547 CA216896086	264	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5779815 rs564607547	264	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378944923 rs1457244410	264	P>S		No	ClinGen TOPMed
CA378944945 rs1282108057	265	L>P		No	ClinGen gnomAD
CA216896104 rs1011265241	265	L>V		No	ClinGen TOPMed
rs1302525763 CA378945129	266	D>V		No	ClinGen gnomAD
CA5779838 rs761208820	267	C>G		No	ClinGen ExAC gnomAD
CA5779837 rs761208820	267	C>R		No	ClinGen ExAC gnomAD
CA378945148 rs1405115257	267	C>Y		No	ClinGen gnomAD
rs1337564787 CA378945172	268	P>H		No	ClinGen TOPMed
CA5779840 rs563638052	269	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA378946513 rs761302768	269	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs761302768 CA5779841	269	R>P		No	ClinGen ExAC TOPMed gnomAD
CA5779842 rs574089705	272	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA216896359 rs942621893	274	R>Q		No	ClinGen TOPMed gnomAD
CA5779845 rs370046508	274	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs754876473 CA5779847	275	R>K		No	ClinGen ExAC gnomAD
rs1453893362 CA378946697	276	L>P		No	ClinGen TOPMed
rs372580457 CA216896376	277	D>A		No	ClinGen Ensembl
rs372580457 CA216896377	277	D>G		No	ClinGen Ensembl
CA5779850 rs771020303	277	D>N		No	ClinGen ExAC gnomAD
CA378946742 rs552279971	278	P>A		No	ClinGen gnomAD
rs552279971 CA216896379	278	P>S		No	ClinGen gnomAD
TCGA novel	279	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs868483076 CA216896383	279	E>K		No	ClinGen gnomAD
CA378946829 rs1407027234	281	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5779852 rs768307668	281	S>P		No	ClinGen ExAC gnomAD
CA378946870 rs1398956035	284	E>K		No	ClinGen gnomAD
CA5779853 rs113929032	285	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378946954 rs1377185801	287	S>Y		No	ClinGen gnomAD
rs141233105 CA5779856	288	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776047856 CA5779855	288	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1284212740 CA378946986	289	A>S		No	ClinGen TOPMed
CA378946992 rs1284212740	289	A>T		No	ClinGen TOPMed
rs1377369336 CA378947113	293	W>*		No	ClinGen gnomAD
CA378947100 rs1352990722	293	W>R		No	ClinGen TOPMed
rs139348192 CA5779859	296	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5779858 rs377662602	296	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA378947206 rs139348192	296	S>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5779860 rs144149305	298	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA378947239 rs144149305	298	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs376064339 CA216896410	300	R>C		No	ClinGen Ensembl
rs4963198 VAR_059694 CA5779861	300	R>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA378947299 rs1458387059	301	G>R		No	ClinGen gnomAD
rs760327810 CA5779862	302	G>R		No	ClinGen ExAC gnomAD
CA216896437 rs779896160	303	P>L		No	ClinGen Ensembl
rs1224459466 CA378947353	303	P>S		No	ClinGen TOPMed gnomAD
TCGA novel	304	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5779866 rs143185074	305	P>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754898695 CA5779865	305	P>T		No	ClinGen ExAC gnomAD
rs1413581013 CA378947405	306	E>D		No	ClinGen gnomAD
rs1165037903 CA378947406	307	G>S		No	ClinGen TOPMed
CA5779867 rs752387112	307	G>V		No	ClinGen ExAC gnomAD
rs781313107 CA5779869	308	L>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	311	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201494676 CA216896462	311	E>G		No	ClinGen gnomAD
CA5779872 rs780053334	312	D>N		No	ClinGen ExAC
CA216896477 rs201697531	313	L>P		No	ClinGen 1000Genomes gnomAD
rs1265800471 CA378947504	314	A>T		No	ClinGen TOPMed
rs769099841 CA5779874	315	P>A		No	ClinGen ExAC TOPMed gnomAD
CA378947561 rs1276728026	317	D>G		No	ClinGen gnomAD
CA378947667 rs1589818324	319	T>S		No	ClinGen Ensembl
CA216896501 rs148429612	321	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA5779877 rs148429612	321	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA378947791 rs1476810417	323	T>A		No	ClinGen gnomAD
rs772797475 CA5779878	324	H>Y		No	ClinGen ExAC gnomAD
CA216896521 rs1035268836	325	G>S		No	ClinGen TOPMed gnomAD
CA5779899 rs201453048 COSM1354364	326	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1386292387 CA378948008	328	Q>E		No	ClinGen gnomAD
CA378948075 rs1332861256	331	C>R		No	ClinGen gnomAD
rs1441960613 CA378948079	331	C>Y		No	ClinGen gnomAD
rs762894176 CA5779902	333	N>S		No	ClinGen ExAC gnomAD
rs779538247 CA216896605	334	P>A		No	ClinGen Ensembl
CA216896619 rs372814611	335	T>I		No	ClinGen ESP
CA5779904 rs763804308	336	K>R		No	ClinGen ExAC gnomAD
CA378948256 rs1327084909	337	G>S		No	ClinGen gnomAD
COSM3670788 rs558302518 CA5779906	339	R>Q	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs751303816 CA5779905	339	R>W		No	ClinGen ExAC TOPMed gnomAD
CA216896641 rs941110846	341	R>C		No	ClinGen gnomAD
CA5779909 rs755070839	341	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1564807525 CA378948454	344	Q>E		No	ClinGen Ensembl
TCGA novel	344	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378948505 rs1439659527	346	Q>*		No	ClinGen TOPMed
CA378948663 rs1199089475	348	R>K		No	ClinGen TOPMed gnomAD
rs1205232355 CA378948716	349	E>D		No	ClinGen gnomAD
CA5779935 rs192064604	349	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1182901206 CA378948736	350	P>L		No	ClinGen TOPMed
CA5779938 rs543051114	350	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768146850 CA5779940	351	P>R		No	ClinGen ExAC gnomAD
CA5779945 rs773018391	352	E>K		No	ClinGen ExAC TOPMed gnomAD
CA5779944 rs773018391	352	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA216896795 rs951382957	356	Q>*		No	ClinGen TOPMed gnomAD
CA378948986 rs1356637187	357	H>Q		No	ClinGen TOPMed
rs1554890697 CA5779946	358	R>G		No	ClinGen Ensembl
CA378949004 rs1378774525	358	R>K		No	ClinGen gnomAD
CA216896801 rs80131782	359	P>Q		No	ClinGen Ensembl
CA5779949 rs141801417	362	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5779948 rs765547291	362	P>S		No	ClinGen ExAC gnomAD
CA216896806 rs962446085	363	A>T		No	ClinGen gnomAD
rs369794770 CA5779951	363	A>V		No	ClinGen ExAC TOPMed gnomAD
rs147108520 CA5779953	364	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs915563887 CA216896821	365	S>C		No	ClinGen Ensembl
rs200926908 CA216896850	366	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200926908 CA5779956	366	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5779957 rs779821158	367	S>Y		No	ClinGen ExAC gnomAD
CA216896873 rs147753901	368	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5779959 rs199697780 COSM3935497	368	T>I	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs147753901 CA5779958	368	T>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378949465 rs1431670123	369	P>R		No	ClinGen gnomAD
rs1266673820 CA378949461	369	P>S		No	ClinGen TOPMed gnomAD
rs934944767 CA216896892	370	E>G		No	ClinGen TOPMed gnomAD
rs1015867879 CA216896887	370	E>K		No	ClinGen TOPMed
rs771945916 CA5779962	371	P>A		No	ClinGen ExAC TOPMed gnomAD
CA378949548 rs771945916	371	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1156844853 CA378949614	372	D>V		No	ClinGen gnomAD
rs746863596 CA5779964	373	P>S		No	ClinGen ExAC gnomAD
CA5779965 rs770629911	374	A>T		No	ClinGen ExAC TOPMed gnomAD
CA216896938 rs1028405543	374	A>V		No	ClinGen TOPMed
CA378949833 rs1218324217	377	S>C		No	ClinGen TOPMed
CA378950071 rs1290354438	382	L>S		No	ClinGen TOPMed
rs1349111366 CA378950087	383	A>T		No	ClinGen TOPMed gnomAD
CA378950149 rs1589818997	385	L>R		No	ClinGen Ensembl
CA216896951 rs893320409	386	R>G		No	ClinGen Ensembl
rs1007578502 CA216896963	387	A>P		No	ClinGen Ensembl
rs762435564 CA5779970	388	W>L		No	ClinGen ExAC
rs142323921 CA5779971	390	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs750887552 CA5779972	391	H>R		No	ClinGen ExAC gnomAD
CA378950420 rs1487530614	392	G>D		No	ClinGen gnomAD
CA5779977 rs151206481	393	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5779976 rs151206481	393	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773124247	394	R>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs778415386 CA5779981 COSM1354365	394	R>C	Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs778415386 CA5779979	394	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5779982 rs777835126	394	R>H		No	ClinGen ExAC TOPMed gnomAD
CA5779983 rs777835126	394	R>L		No	ClinGen ExAC TOPMed gnomAD
rs778415386 COSM3710181 CA5779980	394	R>S	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs552097342 CA5780011	395	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA378950868 rs1235454658	396	L>F		No	ClinGen gnomAD
CA5780013 rs759960965	397	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1248498807 CA378950927	398	Y>C		No	ClinGen TOPMed
CA216897358 rs11246181	400	H>Q		No	ClinGen Ensembl
rs1422327183 CA378950980	400	H>Y		No	ClinGen gnomAD
CA5780017 rs372006680	401	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5780018 rs372006680	401	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5780016 rs775139825	401	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs150194207 CA216897372	402	E>D		No	ClinGen ESP TOPMed
CA378951019 rs1424095083	402	E>Q		No	ClinGen gnomAD
rs756773238 CA5780020	403	S>F		No	ClinGen ExAC TOPMed gnomAD
rs767607221 CA5780021	404	Q>*		No	ClinGen ExAC gnomAD
CA378951164 CA378951163 rs1417198279	404	Q>H		No	ClinGen TOPMed gnomAD
CA5780022 rs750368892	405	Q>*		No	ClinGen ExAC
CA378951243 rs1340000566	406	E>Q		No	ClinGen gnomAD
rs1272215466 CA378951322	407	G>E		No	ClinGen gnomAD
CA5780026 rs748408852	408	A>G		No	ClinGen ExAC TOPMed gnomAD
CA378951387 rs1276267794	409	V>I		No	ClinGen gnomAD
CA216897413 rs907056824	410	A>T		No	ClinGen Ensembl
CA378951444 rs1391339765	410	A>V		No	ClinGen TOPMed gnomAD
rs760126599 CA216897427	411	P>L		No	ClinGen TOPMed gnomAD
CA378951481 rs1449726219	412	W>R		No	ClinGen TOPMed
CA5780027 rs368346889	413	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA5780028 rs778032193	414	P>R		No	ClinGen ExAC gnomAD
rs138766042 CA5780030	415	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5780029 rs531113946	415	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1477505099 CA378951692	417	V>A		No	ClinGen TOPMed gnomAD
rs1477505099 CA378951690	417	V>D		No	ClinGen TOPMed gnomAD
CA378951684 rs1242136194	417	V>F		No	ClinGen TOPMed gnomAD
CA378951666 rs1242136194	417	V>I		No	ClinGen TOPMed gnomAD
CA378951669 rs1242136194	417	V>L		No	ClinGen TOPMed gnomAD
CA5780033 rs770150966	421	Q>L		No	ClinGen ExAC gnomAD
rs1021284540 CA216897471	422	V>A		No	ClinGen TOPMed
CA378951875 rs1241001294	422	V>M		No	ClinGen TOPMed
rs1360441904 CA378951947	423	H>R		No	ClinGen gnomAD
rs149374711 CA5780034	423	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA5780035 rs762691656	425	A>E		No	ClinGen ExAC TOPMed gnomAD
CA378952049 rs762691656	425	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1309416180 CA378952165	427	P>L		No	ClinGen TOPMed
CA5780036 rs763708212	427	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	428	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199696122 CA5780037	429	T>S		No	ClinGen 1000Genomes ExAC TOPMed
rs761284228 CA5780038	430	P>S		No	ClinGen ExAC TOPMed gnomAD
rs149919024 CA5780040	431	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA216897513 rs904540549	434	P>A		No	ClinGen TOPMed gnomAD
TCGA novel	434	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756073397 CA5780041	434	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs756073397 CA378952448	434	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1001828110 CA216897514	435	S>G		No	ClinGen TOPMed
CA5780043 rs753624138	437	A>P		No	ClinGen ExAC gnomAD
CA5780075 rs771898293	439	E>D		No	ClinGen ExAC gnomAD
rs370021257 CA5780076	440	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1217678271 CA378953902	440	P>S		No	ClinGen TOPMed gnomAD
rs138005053 CA5780077	442	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5780078 rs138005053	442	G>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776447263 CA378953939	444	S>*		No	ClinGen ExAC TOPMed gnomAD
CA5780079 rs776447263	444	S>L		No	ClinGen ExAC TOPMed gnomAD
CA378953934 rs1589822685	444	S>P		No	ClinGen Ensembl
rs776447263 CA216898746	444	S>W		No	ClinGen ExAC TOPMed gnomAD
CA216898763 rs978365340	445	S>T		No	ClinGen TOPMed
rs752489771 CA5780082	446	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1442375341 CA378953966	446	Q>R		No	ClinGen TOPMed gnomAD
rs1420165061 CA378953972	447	H>D		No	ClinGen gnomAD
CA378953979 rs1199401023	447	H>P		No	ClinGen TOPMed
rs762717578 CA5780083	448	L>V		No	ClinGen ExAC TOPMed gnomAD
CA378954016 rs1589822760	449	V>A		No	ClinGen Ensembl
rs926317860 CA216898778	450	P>L		No	ClinGen TOPMed gnomAD
CA378954041 rs1401172314	452	P>S		No	ClinGen gnomAD
TCGA novel	454	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1314612115 CA378954066	454	K>R		No	ClinGen gnomAD
CA5780086 rs756247944	455	H>Q		No	ClinGen ExAC gnomAD
CA5780087 rs780112322	456	P>A		No	ClinGen ExAC TOPMed gnomAD
rs200080449 CA5780088	456	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA378954090 rs780112322	456	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1227639219 CA378954109	457	R>G		No	ClinGen gnomAD
rs1347572273 CA378954136	458	P>R		No	ClinGen gnomAD
CA216898810 rs749002245	459	R>*		No	ClinGen TOPMed
rs138645102 CA5780090 COSM109349 RCV002746705	459	R>Q	skin [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
CA216898815 rs556285816	460	D>H		No	ClinGen 1000Genomes
CA216898825 rs1046011483	461	S>F		No	ClinGen TOPMed
rs1486079826 CA378954176	461	S>T		No	ClinGen gnomAD
CA216898828 rs376777733	462	G>D		No	ClinGen ESP
rs1186010745 CA378954214	463	S>N		No	ClinGen TOPMed gnomAD
rs141125394 CA216898832 CA378954224	463	S>R		No	ClinGen ESP TOPMed
CA216898846 CA216898843 rs370995841	464	S>R		No	ClinGen ESP TOPMed
rs1210949481 CA378954261	464	S>T		No	ClinGen gnomAD
CA378954295 rs1261608165	465	S>F		No	ClinGen gnomAD
CA5780092 rs772558927	466	P>L		No	ClinGen ExAC TOPMed gnomAD
CA378954339 rs772558927	466	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA5780093 rs772558927	466	P>R		No	ClinGen ExAC TOPMed gnomAD
CA5780098 rs12793222	467	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5780097 VAR_061678 rs12793222	467	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5780095 rs150720801	467	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5780099 rs775262689	468	W>*		No	ClinGen ExAC gnomAD
rs762804644 CA5780100	468	W>C		No	ClinGen ExAC TOPMed gnomAD
CA378954356 rs1375986440	468	W>R		No	ClinGen gnomAD
CA378954398 rs1363402455	469	S>L		No	ClinGen gnomAD
CA378954394 rs1363402455	469	S>W		No	ClinGen gnomAD
rs1019249335 CA216898881	471	D>E		No	ClinGen gnomAD
CA378954609 rs1232551821	475	R>G		No	ClinGen gnomAD
rs897749833 CA216898882	475	R>S		No	ClinGen TOPMed
rs766388739 CA5780104	477	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5780105 rs141461078	477	R>H		No	ClinGen 1000Genomes ExAC gnomAD
rs368150099 CA5780108	478	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA5780107 rs368150099	478	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5780106 rs754979280	478	R>W		No	ClinGen ExAC TOPMed gnomAD
rs149903321 CA216898893	480	R>*		No	ClinGen ESP gnomAD
rs149903321 CA378954730	480	R>G		No	ClinGen ESP gnomAD
rs758847206 CA216898903	480	R>L		No	ClinGen ExAC TOPMed gnomAD
CA378954736 rs758847206	480	R>P		No	ClinGen ExAC TOPMed gnomAD
rs758847206 CA5780109	480	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5780112 rs756885824	486	G>E		No	ClinGen ExAC TOPMed gnomAD
rs746691614 CA5780111	486	G>R		No	ClinGen ExAC gnomAD
CA5780113 rs780688450	488	G>A		No	ClinGen ExAC gnomAD
CA378954998 rs1163722357	488	G>S		No	ClinGen TOPMed
rs200103306 CA378955033	489	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs960630258 CA216898917	490	G>D		No	ClinGen Ensembl
rs1419329813 CA378955151	492	G>E		No	ClinGen TOPMed
rs1589823112 CA378955178	493	V>M		No	ClinGen Ensembl
TCGA novel	495	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs991844245 CA216898941	495	A>V		No	ClinGen gnomAD
CA5780116 rs775467664	496	V>A		No	ClinGen ExAC gnomAD
rs1190898966 CA378955236	496	V>M		No	ClinGen TOPMed
rs1216582844 CA378955427	503	E>K		No	ClinGen gnomAD
rs1216582844 CA378955430	503	E>Q		No	ClinGen gnomAD
rs1450210947 CA378955438	503	E>V		No	ClinGen TOPMed
rs759718475 CA5780124	505	A>T		No	ClinGen ExAC gnomAD
rs1253437023 CA378955582	506	S>*		No	ClinGen TOPMed gnomAD
rs1253437023 CA378955596	506	S>L		No	ClinGen TOPMed gnomAD
rs10902170 CA378955603	507	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs10902170 VAR_025782 CA5780125	507	R>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5780126 rs753261337	507	R>H		No	ClinGen ExAC TOPMed gnomAD
CA378955604 rs753261337	507	R>P		No	ClinGen ExAC TOPMed gnomAD
rs10902170 CA378955597	507	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1419535546 CA378955668	509	S>I		No	ClinGen TOPMed gnomAD
rs1419535546 CA378955663	509	S>N		No	ClinGen TOPMed gnomAD
CA5780128 rs374984579	510	P>L		No	ClinGen ESP ExAC gnomAD
CA5780129 rs374984579	510	P>R		No	ClinGen ESP ExAC gnomAD
rs758934210 CA5780127	510	P>S		No	ClinGen ExAC gnomAD
rs1395733477 CA378955723	511	R>*		No	ClinGen TOPMed gnomAD
CA5780132 rs367633088	511	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs367633088 CA5780131	511	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5780133 rs745497752	512	A>T		No	ClinGen ExAC gnomAD
CA5780134 rs372341818	515	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA378955933 rs1292783685	516	P>R		No	ClinGen gnomAD
rs779494932 CA5780135	517	G>D		No	ClinGen ExAC TOPMed gnomAD
CA5780137 rs768625973	521	A>P		No	ClinGen ExAC gnomAD
rs768625973 CA378956084	521	A>T		No	ClinGen ExAC gnomAD
rs267602955 CA5780138	522	P>L		No	ClinGen ExAC TOPMed gnomAD
CA378956114 rs267602955	522	P>R		No	ClinGen ExAC TOPMed gnomAD
CA378956152 rs1480933287	523	D>E		No	ClinGen gnomAD
rs1252704910 CA378956134	523	D>G		No	ClinGen TOPMed
VAR_025783 rs10902171 CA5780139	523	D>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs10902171 CA378956126	523	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378956185 rs1238252947	524	A>G		No	ClinGen Ensembl
rs1238252947 CA378956188	524	A>V		No	ClinGen Ensembl
rs916373370 CA216899033	525	A>E		No	ClinGen TOPMed gnomAD
CA5780140 rs376628172	525	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA378956233 rs916373370	525	A>V		No	ClinGen TOPMed gnomAD
CA378956234 rs1475887474	526	A>T		No	ClinGen gnomAD
CA378956272 rs1256393904	527	R>G		No	ClinGen TOPMed
CA378956311 rs1165268219	528	P>L		No	ClinGen gnomAD
rs759610599 CA5780142	530	R>K		No	ClinGen ExAC TOPMed gnomAD
rs1411017553 CA378956396	531	A>E		No	ClinGen gnomAD
rs775663358 CA5780144	531	A>T		No	ClinGen ExAC TOPMed gnomAD
CA216899047 rs949024110	532	A>V		No	ClinGen TOPMed
rs763105253 CA5780145	533	E>G		No	ClinGen ExAC gnomAD
CA216899052 rs993448850	533	E>K		No	ClinGen Ensembl
rs764740611 CA5780147	534	L>F		No	ClinGen ExAC TOPMed gnomAD
CA378956512 rs1293918092	534	L>P		No	ClinGen gnomAD
CA378956571 rs1212979340	536	H>D		No	ClinGen gnomAD
CA5780149 rs762299122	536	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA5780151 rs142649083	537	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs779654893 CA5780154	538	S>C		No	ClinGen ExAC gnomAD
rs779654893 CA5780153	538	S>G		No	ClinGen ExAC gnomAD
rs754478221 CA5780155	538	S>N		No	ClinGen ExAC gnomAD
rs529200441 CA5780156	538	S>R		No	ClinGen ExAC gnomAD
CA5780158 rs143414567	539	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs201013443 CA5780157	539	P>T		No	ClinGen 1000Genomes ExAC gnomAD
CA5780160 rs562617243	540	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5780161 rs562617243	540	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs531681527 CA5780162	541	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378956769 rs1430791334	541	P>L		No	ClinGen gnomAD
CA378956735 rs531681527	541	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD

1 associated diseases with Q8IYG6

[MIM: 618254]: Ciliary dyskinesia, primary, 39 (CILD39)

A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD39 inheritance is autosomal recessive. {ECO:0000269|PubMed:30388400}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD39 inheritance is autosomal recessive. {ECO:0000269|PubMed:30388400}. Note=The disease is caused by variants affecting the gene represented in this entry.

4 regional properties for Q8IYG6

Type	Name	Position	InterPro Accession
domain	Heat shock protein DnaJ, cysteine-rich domain	130 - 214	IPR001305
domain	DnaJ domain	7 - 81	IPR001623
domain	Chaperone DnaJ, C-terminal	117 - 338	IPR002939
conserved_site	DnaJ domain, conserved site	47 - 66	IPR018253

Functions

		Description
EC Number
Subcellular Localization	Cell projection, cilium
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

1 GO annotations of cellular component

Name	Definition
cilium	A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name	Definition
cell projection organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a prolongation or process extending from a cell, e.g. a flagellum or axon.

7 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q96M69	LRGUK	Leucine-rich repeat and guanylate kinase domain-containing protein	Homo sapiens (Human)	PR
Q9H069	DRC3	Dynein regulatory complex subunit 3	Homo sapiens (Human)	PR
Q4LDG9	DNAL1	Dynein axonemal light chain 1	Homo sapiens (Human)	PR
Q6ZRR7	LRRC9	Leucine-rich repeat-containing protein 9	Homo sapiens (Human)	PR
Q9DAP0	Lrrc46	Leucine-rich repeat-containing protein 46	Mus musculus (Mouse)	PR
Q9D5S7	Lrguk	Leucine-rich repeat and guanylate kinase domain-containing protein	Mus musculus (Mouse)	PR
Q6DIQ3	ppp1r7	Protein phosphatase 1 regulatory subunit 7	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR

10	20	30	40	50	60
MDLGWDRSRG	PRRSTSSVRV	RELSWQGLHN	PCPQSKGPGS	QRDRLGEQLV	EEYLSPARLQ
70	80	90	100	110	120
ALARVDDLRL	VRTLEMCVDT	REGSLGNFGV	HLPNLDQLKL	NGSHLGSLRD	LGTSLGHLQV
130	140	150	160	170	180
LWLARCGLAD	LDGIASLPAL	KELYASYNNI	SDLSPLCLLE	QLEVLDLEGN	SVEDLGQVRY
190	200	210	220	230	240
LQLCPRLAML	TLEGNLVCLQ	PAPGPTNKVP	RGYNYRAEVR	KLIPQLQVLD	EVPAAHTGPP
250	260	270	280	290	300
APPRLSQDWL	AVKEAIKKGN	GLPPLDCPRG	APIRRLDPEL	SLPETQSRAS	RPWPFSLLVR
310	320	330	340	350	360
GGPLPEGLLS	EDLAPEDNTS	SLTHGAGQVL	CGNPTKGLRE	RRHQCQAREP	PEQLPQHRPG
370	380	390	400	410	420
DPAASTSTPE	PDPADSSDFL	ALAGLRAWRE	HGVRPLPYRH	PESQQEGAVA	PWGPRRVPEE
430	440	450	460	470	480
QVHQAEPKTP	SSPPSLASEP	SGTSSQHLVP	SPPKHPRPRD	SGSSSPRWST	DLQSRGRRLR
490	500	510	520	530	540
VLGSWGPGLG	DGVAAVPVLR	ALEVASRLSP	RAQGCPGPKP	APDAAARPPR	AAELSHPSPV

PT