AiPD: Autoinhibited Protein Database

O14646

Gene name	CHD1
Protein name	Chromodomain-helicase-DNA-binding protein 1
Names	CHD-1, ATP-dependent helicase CHD1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1105
EC number	3.6.4.12: Acting on ATP; involved in cellular and subcellular movement
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1054-1130 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1054-1130 (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

11 structures for O14646

Entry ID	Method	Resolution	Chain	Position	Source
2B2T	X-ray	245 A			PDB
2B2U	X-ray	295 A			PDB
2B2V	X-ray	265 A			PDB
2B2W	X-ray	240 A			PDB
2B2Y	X-ray	235 A			PDB
2N39	NMR	-	A	1409-1511	PDB
4B4C	X-ray	162 A	A	1119-1327	PDB
4NW2	X-ray	190 A	A/C	268-443	PDB
4O42	X-ray	187 A	A	268-443	PDB
5AFW	X-ray	160 A	A	270-443	PDB
AF-O14646-F1	Predicted				AlphaFoldDB

844 variants for O14646

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs753500340 RCV001328746	69	S>P	Pilarowski-Bjornsson syndrome [ClinVar]	Yes	ClinVar dbSNP
CA360523919 rs1272912081 RCV001336321	81	V>A	Pilarowski-Bjornsson syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs747828889 RCV001333895 CA3356640	91	P>S	Pilarowski-Bjornsson syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000480833 rs1064795875 VAR_080265 RCV000505805 CA16618227	141	R>G	Pilarowski-Bjornsson syndrome PILBOS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA360522430 RCV000786919 rs1580471120	157	P>R	Pilarowski-Bjornsson syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1751666878 RCV001262558	221	D>V	Pilarowski-Bjornsson syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000505811 VAR_080266 rs1554078856 CA360519146	460	R>K	Pilarowski-Bjornsson syndrome PILBOS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000509117 RCV000505806 rs1554078349 VAR_080267 CA360517211	618	R>Q	Pilarowski-Bjornsson syndrome PILBOS; patient cells show a global increase of methylated histone binding [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001196608 rs1750226720	950	T>A	Pilarowski-Bjornsson syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001263358 rs1750025322	1038	R>I	Autism [ClinVar]	Yes	ClinVar dbSNP
rs1749765274 RCV001328747	1112	R>L	Pilarowski-Bjornsson syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1749765020 RCV001291783	1113	G>R	Pilarowski-Bjornsson syndrome [ClinVar]	Yes	ClinVar dbSNP
rs139215644 RCV002488031 RCV000950407 CA3355795	1345	I>V	Pilarowski-Bjornsson syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1748258742 RCV001328748	1517	L>F	Pilarowski-Bjornsson syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001328749 rs1748060837	1598	Y>H	Pilarowski-Bjornsson syndrome [ClinVar]	Yes	ClinVar dbSNP
rs374564623 CA360515151 RCV000786915	1632	R>G	Pilarowski-Bjornsson syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA360514085 RCV002291279 VAR_080268 rs1293161341 RCV000505807	1708	R>Q	Pilarowski-Bjornsson syndrome PILBOS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
CA3356708 rs747445027 CA3356709	2	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1440627045 CA360525239	2	N>S		No	ClinGen TOPMed gnomAD
CA360525189 rs1561286113	9	S>G		No	ClinGen Ensembl
rs1467401757 CA360525147	14	S>R		No	ClinGen gnomAD
CA123057782 rs1027119820	16	E>G		No	ClinGen Ensembl
rs1260438438 CA360525139	16	E>K		No	ClinGen TOPMed
CA3356702 rs755153904	18	S>N		No	ClinGen ExAC gnomAD
CA3356688 rs778115031	20	S>L		No	ClinGen ExAC gnomAD
CA3356687 rs772221799	29	G>V		No	ClinGen ExAC gnomAD
rs748354609 CA3356686	30	S>F		No	ClinGen ExAC gnomAD
rs199809090 CA123049128	31	G>A		No	ClinGen TOPMed gnomAD
rs199647054 CA3356685	32	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754993220 CA3356684	34	S>L		No	ClinGen ExAC gnomAD
CA3356683 rs753975187	39	S>N		No	ClinGen ExAC gnomAD
rs1324736069 CA360524324	40	S>T		No	ClinGen TOPMed
CA360524289 rs1433272156	42	G>E		No	ClinGen TOPMed
CA3356681 rs757227377	44	S>I		No	ClinGen ExAC gnomAD
rs1468517171 CA360524252	45	S>N		No	ClinGen gnomAD
rs751346326 CA3356680	46	Q>R		No	ClinGen ExAC gnomAD
rs763970246 CA3356679	49	S>G		No	ClinGen ExAC TOPMed gnomAD
CA360524183 rs1343133820	50	S>N		No	ClinGen TOPMed
rs1245593180 CA360524158	52	S>P		No	ClinGen TOPMed
rs1447265772 CA360524095	57	E>Q		No	ClinGen gnomAD
rs764987430 CA3356676	58	S>T		No	ClinGen ExAC gnomAD
CA360524063 rs1490132712	59	G>D		No	ClinGen gnomAD
CA123049102 rs879875364	60	S>C		No	ClinGen gnomAD
CA3356675 rs758916968	60	S>N		No	ClinGen ExAC gnomAD
CA3356674 rs776232640	60	S>R		No	ClinGen ExAC gnomAD
CA3356673 rs771275744	61	Q>R		No	ClinGen ExAC gnomAD
CA3356671 rs773765246	65	E>K		No	ClinGen ExAC TOPMed gnomAD
rs753500340 CA3356668	69	S>A		No	ClinGen ExAC gnomAD
CA360523996 rs866375967	69	S>C		No	ClinGen TOPMed
rs866375967 CA123049069	69	S>F		No	ClinGen TOPMed
rs1048220253 CA123049065	70	R>Q		No	ClinGen TOPMed gnomAD
CA3356666 rs749264305	71	E>Q		No	ClinGen ExAC gnomAD
CA3356664 rs199760900	72	N>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1185008345 CA360523971	73	K>N		No	ClinGen TOPMed
CA123049053 rs923523767	73	K>T		No	ClinGen TOPMed
CA3356663 rs746941196	76	A>G		No	ClinGen ExAC TOPMed gnomAD
rs777894710 CA3356662	80	K>N		No	ClinGen ExAC TOPMed gnomAD
CA360523913 rs1384789969	82	D>G		No	ClinGen TOPMed
CA360523912 rs1384789969	82	D>V		No	ClinGen TOPMed
CA3356661 rs758242850	83	G>E		No	ClinGen ExAC TOPMed gnomAD
CA360523909 rs1456177425	83	G>R		No	ClinGen TOPMed
rs374974874 CA3356660	85	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs745989723 CA3356643	86	F>V		No	ClinGen ExAC TOPMed gnomAD
rs1347491360 CA360523871	87	W>R		No	ClinGen gnomAD
rs374099792 CA3356641	90	S>G		No	ClinGen ESP ExAC gnomAD
rs754785751 CA3356638	92	S>I		No	ClinGen ExAC gnomAD
CA3356637 rs753524145	93	I>V		No	ClinGen ExAC gnomAD
rs766058666 CA3356636	95	A>G		No	ClinGen ExAC TOPMed gnomAD
CA3356634 rs34128229	96	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3356633 rs767946794	98	R>K		No	ClinGen ExAC TOPMed gnomAD
CA360523798 rs767946794	98	R>T		No	ClinGen ExAC TOPMed gnomAD
CA3356632 rs762324278	99	S>Y		No	ClinGen ExAC gnomAD
CA3356631 rs774781263	101	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1198416000 CA360523766	103	K>N		No	ClinGen TOPMed
rs906013276 CA123048691	105	Q>H		No	ClinGen Ensembl
CA3356623 rs763765284	113	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1447997227 CA360523689	113	Q>R		No	ClinGen gnomAD
CA3356622 rs759646518	114	H>R		No	ClinGen ExAC gnomAD
rs1464228668 CA360523675	115	Q>R		No	ClinGen TOPMed gnomAD
rs1399842880 CA360523664	117	S>A		No	ClinGen TOPMed gnomAD
CA3356619 rs776852433	118	S>P		No	ClinGen ExAC gnomAD
CA3356618 rs370710571	121	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA360523635 rs1410015318	121	G>V		No	ClinGen gnomAD
rs549468498 CA3356602	132	S>F		No	ClinGen ExAC gnomAD
CA3356599 rs201752702	133	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs368581644 CA3356600	133	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA360523112 rs1441275831	134	D>G		No	ClinGen TOPMed
rs943928419 CA123048330	135	S>L		No	ClinGen gnomAD
rs1221669800 CA360523103	135	S>P		No	ClinGen gnomAD
CA3356597 rs774321632	137	S>N		No	ClinGen ExAC gnomAD
rs1353397946 CA360523059	138	E>G		No	ClinGen gnomAD
rs1310513011 CA360523033	140	K>R		No	ClinGen gnomAD
rs768508600 CA3356596	141	R>S		No	ClinGen ExAC gnomAD
rs1285559356 CA360523016	142	K>E		No	ClinGen TOPMed gnomAD
CA3356595 rs749045017	142	K>R		No	ClinGen ExAC gnomAD
CA360522991 rs1411740659	143	K>N		No	ClinGen TOPMed
rs939359163 CA123048322	143	K>T		No	ClinGen TOPMed
rs779838798 CA3356594	145	K>E		No	ClinGen ExAC gnomAD
CA3356571 rs776220865	148	D>H		No	ClinGen ExAC
rs930249230 CA123047787	148	D>V		No	ClinGen TOPMed
CA123047784 rs373185125	149	W>R		No	ClinGen TOPMed gnomAD
rs1188856578 CA360522476	150	Q>R		No	ClinGen gnomAD
CA360522464 rs1255809948	151	M>I		No	ClinGen gnomAD
rs1204497880 CA360522460	152	S>Y		No	ClinGen gnomAD
CA360522449 rs1325967207	154	S>A		No	ClinGen gnomAD
CA3356567 rs757982108	155	G>A		No	ClinGen ExAC gnomAD
rs757982108 CA360522442	155	G>E		No	ClinGen ExAC gnomAD
CA3356564 rs368819719	158	S>F		No	ClinGen ExAC TOPMed gnomAD
rs779601664 CA3356565	158	S>T		No	ClinGen ExAC TOPMed gnomAD
CA3356563 rs754277241	160	S>C		No	ClinGen ExAC gnomAD
rs1469219298 CA360522407	161	G>D		No	ClinGen TOPMed gnomAD
CA360522386 rs1303233349	164	S>L		No	ClinGen gnomAD
rs766557277 CA3356562	165	E>G		No	ClinGen ExAC gnomAD
rs916861846 CA123047765	166	S>Y		No	ClinGen TOPMed gnomAD
CA3356561 rs370850474	168	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA360522357 rs1374360176	169	E>Q		No	ClinGen TOPMed gnomAD
rs1247773132 CA360522343	171	E>K		No	ClinGen TOPMed
CA3356558 rs576801110	172	K>E		No	ClinGen 1000Genomes ExAC gnomAD
rs372976955 CA3356557	173	S>N		No	ClinGen ESP ExAC gnomAD
CA3356555 rs765184778	176	D>E		No	ClinGen ExAC gnomAD
RCV001264681 rs1751687577	177	E>G		No	ClinVar dbSNP
CA360522298 rs1580470832	177	E>K		No	ClinGen Ensembl
CA360522283 rs1478359693	179	E>Q		No	ClinGen TOPMed
CA3356554 rs759283961	180	S>P		No	ClinGen ExAC gnomAD
CA360522261 rs1253197188	182	Y>D		No	ClinGen gnomAD
CA360522242 rs1164397476	184	P>L		No	ClinGen TOPMed
rs776290727 CA3356553	186	N>I		No	ClinGen ExAC gnomAD
CA360522224 rs1561528933	187	K>Q		No	ClinGen Ensembl
rs770556898 CA3356552	188	V>I		No	ClinGen ExAC TOPMed gnomAD
rs770556898 CA360522218	188	V>L		No	ClinGen ExAC TOPMed gnomAD
rs775967789 CA3356551	189	K>R		No	ClinGen ExAC TOPMed gnomAD
rs772983526 CA3356550	190	S>N		No	ClinGen ExAC gnomAD
CA3356549 rs771449704	190	S>R		No	ClinGen ExAC gnomAD
rs61756299 CA3356548	191	R>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA360522190 rs1456781705	192	K>R		No	ClinGen gnomAD
rs779511892 CA3356547	193	P>S		No	ClinGen ExAC gnomAD
CA3356546 rs755546936	194	Q>R		No	ClinGen ExAC gnomAD
rs538915666 CA3356516	196	R>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1554079557 CA360522163	196	R>T		No	ClinGen Ensembl
CA360522145 rs1419830270	197	S>C		No	ClinGen Ensembl
CA360522148 rs1232134119	197	S>P		No	ClinGen gnomAD
rs1012609714 CA123047658	198	K>E		No	ClinGen TOPMed gnomAD
CA360522121 rs1288764961	201	N>D		No	ClinGen TOPMed
rs1355105385 CA360522109	202	G>A		No	ClinGen TOPMed
CA360522107 rs1284676463	203	K>E		No	ClinGen gnomAD
rs758537316 CA3356515	206	L>V		No	ClinGen ExAC gnomAD
CA360522045 rs1339093639	208	Q>P		No	ClinGen gnomAD
rs80342635 CA360522016	210	K>N		No	ClinGen gnomAD
rs753684905 CA3356514	210	K>R		No	ClinGen ExAC TOPMed gnomAD
CA3356513 rs766387618	211	R>G		No	ClinGen ExAC TOPMed gnomAD
CA3356512 rs373314675	215	S>A		No	ClinGen ESP ExAC gnomAD
rs767221221 CA3356510	216	S>C		No	ClinGen ExAC gnomAD
CA3356511 rs750263132	216	S>T		No	ClinGen ExAC gnomAD
CA360521961 rs892820400	218	E>D		No	ClinGen TOPMed
CA3356507 CA3356508 rs371007031	219	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1437903731 CA360521921	221	D>E		No	ClinGen TOPMed
rs1026422626 CA360521911	222	E>A		No	ClinGen TOPMed gnomAD
CA3356506 rs375820530	222	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1026422626 CA123047639	222	E>G		No	ClinGen TOPMed gnomAD
CA123047635 rs755588248	223	E>D		No	ClinGen TOPMed gnomAD
CA3356505 rs775814192	224	D>E		No	ClinGen ExAC
rs372549408 CA360521870	225	Y>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs372549408 CA3356503	225	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA123047631 rs372549408	225	Y>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs145798019 CA3356502	227	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1199480446 CA360521828	228	D>Y		No	ClinGen TOPMed gnomAD
CA3356500 rs771338840	230	R>G		No	ClinGen ExAC gnomAD
rs1264385586 CA360521762	233	R>C		No	ClinGen gnomAD
CA3356499 rs747225398	233	R>P		No	ClinGen ExAC gnomAD
rs868272266 CA123047619	234	R>H		No	ClinGen gnomAD
rs933482869 CA123047616	235	Q>R		No	ClinGen TOPMed
rs1561528327 CA360521729	236	A>T		No	ClinGen Ensembl
CA360521720 rs1432160000	237	T>A		No	ClinGen gnomAD
rs758449043 CA3356497	238	V>I		No	ClinGen ExAC gnomAD
rs747629391 CA123047612	241	S>N		No	ClinGen Ensembl
rs113746897 CA123047610	242	Y>H		No	ClinGen Ensembl
CA3356496 rs752843455	242	Y>S		No	ClinGen ExAC gnomAD
rs1452136436 CA360521643	243	K>N		No	ClinGen TOPMed gnomAD
rs1347505412 CA360521617	245	D>V		No	ClinGen TOPMed
CA360521622 rs1407132883	245	D>Y		No	ClinGen gnomAD
rs779815488 CA3356495	249	K>E		No	ClinGen ExAC gnomAD
CA360521537 rs1201442531	250	T>I		No	ClinGen TOPMed
rs1476366524 CA360521443	257	E>D		No	ClinGen gnomAD
rs767417214 CA3356492	259	C>F		No	ClinGen ExAC gnomAD
rs750386072 CA3356493	259	C>R		No	ClinGen ExAC TOPMed gnomAD
CA360521381 rs1461442566	262	D>E		No	ClinGen gnomAD
CA3356491 rs757159576	263	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1244580436 CA360521376	263	V>I		No	ClinGen gnomAD
rs10062803 CA3356490	264	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs10062803 VAR_055652 CA3356489	264	P>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs775074920 CA3356487	266	P>L		No	ClinGen ExAC gnomAD
CA123047592 rs113145966	267	E>G		No	ClinGen Ensembl
rs1561528140 CA360521317	268	E>G		No	ClinGen Ensembl
rs375177535 CA123047590	277	F>C		No	ClinGen ESP gnomAD
rs760071544 CA3356486	279	D>H		No	ClinGen ExAC gnomAD
CA3356485 rs760071544	279	D>N		No	ClinGen ExAC gnomAD
rs1245686010 CA360521231	280	C>R		No	ClinGen TOPMed gnomAD
CA3356483 rs747421643	282	I>S		No	ClinGen ExAC TOPMed gnomAD
CA3356482 rs747421643	282	I>T		No	ClinGen ExAC TOPMed gnomAD
rs943434666 CA360521197	285	K>R		No	ClinGen TOPMed gnomAD
CA123047580 rs943434666	285	K>T		No	ClinGen TOPMed gnomAD
CA360521166 rs777098538	288	T>I		No	ClinGen ExAC gnomAD
CA3356466 rs777098538	288	T>S		No	ClinGen ExAC gnomAD
CA3356465 rs766891603	291	T>A		No	ClinGen ExAC gnomAD
CA3356464 rs201024756	291	T>I		No	ClinGen ExAC TOPMed gnomAD
CA123047167 rs201024756	291	T>S		No	ClinGen ExAC TOPMed gnomAD
rs748398773 CA3356461	294	I>T		No	ClinGen ExAC TOPMed gnomAD
rs774478241 CA3356460	297	V>L		No	ClinGen ExAC TOPMed gnomAD
rs199813900 CA3356459	299	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA360521091 rs1243790460	301	G>S		No	ClinGen gnomAD
rs757267964 CA3356456	305	A>G		No	ClinGen ExAC TOPMed gnomAD
rs781238322 CA3356457	305	A>S		No	ClinGen ExAC gnomAD
CA360521063 rs781238322	305	A>T		No	ClinGen ExAC gnomAD
CA3356455 rs200039317	307	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs777606278 CA3356454	310	N>K		No	ClinGen ExAC gnomAD
rs1375492903 CA360521021	311	K>E		No	ClinGen TOPMed
CA360521015 rs1225719891	312	E>K		No	ClinGen gnomAD
rs758190179 CA3356453	313	P>A		No	ClinGen ExAC gnomAD
CA360520984 rs1224106514	316	I>T		No	ClinGen TOPMed
CA360520901 rs1321160795	327	H>R		No	ClinGen TOPMed
CA3356450 rs754460275	330	N>D		No	ClinGen ExAC gnomAD
CA123047122 rs79731685	347	K>E		No	ClinGen Ensembl
rs761183209 CA360520611	350	D>G		No	ClinGen ExAC TOPMed gnomAD
rs761183209 CA3356447	350	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1427945149 CA360520583	352	Y>C		No	ClinGen gnomAD
CA360520554 rs1370739622	354	K>R		No	ClinGen gnomAD
rs1481018228 CA360520544	355	K>Q		No	ClinGen gnomAD
CA360520525 rs767892325	356	D>A		No	ClinGen ExAC TOPMed gnomAD
rs767892325 CA3356445	356	D>V		No	ClinGen ExAC TOPMed gnomAD
rs762132508 CA3356444	357	Q>R		No	ClinGen ExAC gnomAD
rs887498534 CA123047111	360	K>R		No	ClinGen Ensembl
rs1485727052 CA360520457	361	R>I		No	ClinGen TOPMed gnomAD
CA360520449 rs1243100298	361	R>S		No	ClinGen TOPMed gnomAD
rs1485727052 CA360520455	361	R>T		No	ClinGen TOPMed gnomAD
CA360520282 rs1384160024	366	A>T		No	ClinGen TOPMed
rs1454289120 CA360520265	368	P>L		No	ClinGen gnomAD
CA360520194 rs1561525390	378	Q>*		No	ClinGen Ensembl
CA123046882 rs1040895120	383	D>E		No	ClinGen TOPMed
CA3356429 rs750919470	383	D>N		No	ClinGen ExAC gnomAD
rs1387427337 CA360520154	383	D>V		No	ClinGen TOPMed
CA3356428 rs767930000	386	K>E		No	ClinGen ExAC gnomAD
CA360520112 rs1220531566	389	Q>R		No	ClinGen gnomAD
rs1258556743 CA360520106	390	I>R		No	ClinGen TOPMed
CA3356427 rs534998462	390	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1197124542 CA360520051	396	A>V		No	ClinGen TOPMed gnomAD
rs1204431213 CA360520039	398	S>Y		No	ClinGen TOPMed
rs1224459290 CA360520032	399	N>S		No	ClinGen gnomAD
rs867067551 CA123046786	404	A>S		No	ClinGen Ensembl
CA3356403 rs201680764	405	G>D		No	ClinGen ExAC TOPMed gnomAD
CA3356402 rs752162961	406	Y>C		No	ClinGen ExAC gnomAD
CA3356401 rs763343673	410	Y>H		No	ClinGen ExAC gnomAD
CA360519929 rs1403569425	414	Q>*		No	ClinGen gnomAD
rs1388887912 CA360519898	418	Y>F		No	ClinGen gnomAD
rs904078916 CA123046772	420	E>A		No	ClinGen Ensembl
CA360519888 rs1158185705	420	E>Q		No	ClinGen gnomAD
rs765581372 CA3356398	422	S>G		No	ClinGen ExAC gnomAD
CA360519864 rs1365567318	423	W>*		No	ClinGen gnomAD
rs1269496677 CA360519806	431	K>R		No	ClinGen gnomAD
CA360519791 rs1445035375	433	F>C		No	ClinGen gnomAD
CA360519786 rs1260805119	434	Q>E		No	ClinGen gnomAD
CA360519777 rs1205313257	435	A>S		No	ClinGen TOPMed gnomAD
CA360519770 rs1197775839	436	C>Y		No	ClinGen gnomAD
CA360519738 rs1481522583	440	Y>C		No	ClinGen gnomAD
rs774413561 CA3356393	441	F>Y		No	ClinGen ExAC gnomAD
CA360519722 rs1356247614	442	S>I		No	ClinGen TOPMed
CA360519661 rs1324997089	448	T>A		No	ClinGen gnomAD
CA360519660 rs1324997089	448	T>S		No	ClinGen gnomAD
CA3356389 rs769439271	449	T>A		No	ClinGen ExAC gnomAD
CA3356387 rs780551489	451	F>S		No	ClinGen ExAC gnomAD
CA360519597 rs1204583227	453	D>E		No	ClinGen TOPMed gnomAD
CA360519595 rs932246625	454	C>G		No	ClinGen TOPMed gnomAD
CA123046753 rs932246625	454	C>R		No	ClinGen TOPMed gnomAD
CA3356372 rs541113957	456	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1001900571 CA123046399	459	Q>E		No	ClinGen TOPMed
rs1358909867 CA360519142	460	R>S		No	ClinGen Ensembl
CA360519118 rs1580458197	464	V>A		No	ClinGen Ensembl
CA123046396 rs968138848	464	V>I		No	ClinGen TOPMed
rs769632285 CA3356369	466	L>V		No	ClinGen ExAC TOPMed gnomAD
CA360519071 rs1425997636	471	S>C		No	ClinGen TOPMed
CA360519065 rs1436776761	472	Y>C		No	ClinGen gnomAD
rs778388326 CA3356364	473	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1344728748 CA360519036	476	H>Q		No	ClinGen gnomAD
rs1196924975 CA360519039	476	H>R		No	ClinGen TOPMed gnomAD
CA3356362 rs748467904	481	L>V		No	ClinGen ExAC gnomAD
rs1440109408 CA360518981	484	Y>C		No	ClinGen TOPMed gnomAD
rs1293538704 CA360518969	486	L>M		No	ClinGen TOPMed
CA360518964 rs1360681463	487	N>D		No	ClinGen TOPMed
CA360518960 rs1335292983	487	N>S		No	ClinGen gnomAD
CA123046384 rs75788576	493	A>S		No	ClinGen gnomAD
rs1424835619 CA360518911	494	H>R		No	ClinGen gnomAD
rs753976094 CA3356359	498	K>R		No	ClinGen ExAC gnomAD
rs750698591 CA3356336	514	I>M		No	ClinGen ExAC gnomAD
CA3356335 rs781242005	521	N>D		No	ClinGen ExAC gnomAD
rs752605006 CA3356333	523	L>F		No	ClinGen ExAC gnomAD
rs1230285055 CA360518692	524	F>I		No	ClinGen gnomAD
CA3356332 rs368081187	525	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs531435864 CA123046099	526	E>G		No	ClinGen 1000Genomes
CA360518677 rs1286145890	526	E>K		No	ClinGen TOPMed
CA360518568 rs1286932761	542	L>V		No	ClinGen gnomAD
rs1429523215 CA360518560	543	T>N		No	ClinGen gnomAD
CA360518524 rs1486241059	548	E>A		No	ClinGen TOPMed
CA3356328 rs760391282	555	Q>H		No	ClinGen ExAC
rs150000010 CA3356327	558	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA360518444 rs1249949299	559	V>A		No	ClinGen TOPMed
CA3356326 rs139323457	562	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1028560986 CA123046070	565	I>S		No	ClinGen TOPMed gnomAD
rs955846907 CA123046073	565	I>V		No	ClinGen TOPMed gnomAD
CA360518399 rs1395454839	566	N>S		No	ClinGen TOPMed
CA3356324 rs774679315	569	N>S		No	ClinGen ExAC gnomAD
CA3356323 rs769210760	570	M>L		No	ClinGen ExAC
rs1361388076 CA360517934	571	I>T		No	ClinGen gnomAD
rs1452608979 CA360517907	573	T>A		No	ClinGen Ensembl
CA3356309 rs750078696	573	T>I		No	ClinGen ExAC TOPMed gnomAD
CA3356308 rs558350731	574	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs143635796 CA3356306	577	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1271764404 CA360517711	585	K>Q		No	ClinGen TOPMed
rs1470245730 CA360517675	586	F>L		No	ClinGen TOPMed
rs1382626441 CA360517664	587	N>S		No	ClinGen gnomAD
CA3356304 rs763508835	588	I>V		No	ClinGen ExAC gnomAD
CA3356303 rs775899745	589	L>S		No	ClinGen ExAC gnomAD
RCV000627474 rs1554078356	603	L>missing		No	ClinVar dbSNP
rs918962428 CA123045280	604	G>R		No	ClinGen Ensembl
rs765761471 CA3356280	605	G>C		No	ClinGen ExAC gnomAD
CA3356279 rs202117505	605	G>D		No	ClinGen ExAC TOPMed gnomAD
CA360517364 rs765761471	605	G>S		No	ClinGen ExAC gnomAD
rs1358961137 CA360517310	609	A>E		No	ClinGen TOPMed
rs961613416 CA123045273	611	I>V		No	ClinGen gnomAD
rs1390526256 CA360517265	613	V>A		No	ClinGen gnomAD
rs771345016 CA3356277	628	K>N		No	ClinGen ExAC gnomAD
rs1487433556 CA360517085	631	I>R		No	ClinGen TOPMed
rs1487433556 CA360517086	631	I>T		No	ClinGen TOPMed
CA3356276 rs374285847	636	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs773347698 CA3356275	638	R>C		No	ClinGen ExAC TOPMed gnomAD
CA3356274 rs199778938	638	R>H		No	ClinGen ExAC TOPMed gnomAD
rs780069966 CA3356272	645	P>S		No	ClinGen ExAC gnomAD
CA360516835 rs1330654481	653	L>F		No	ClinGen gnomAD
CA3356270 rs745856680	658	H>R		No	ClinGen ExAC gnomAD
CA3356269 rs781129296	661	M>V		No	ClinGen ExAC
rs757155316 CA3356268	662	P>S		No	ClinGen ExAC gnomAD
rs758004117 CA3356247 CA360516213	664	K>N		No	ClinGen ExAC TOPMed gnomAD
CA3356246 rs61759467	669	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000964470 CA3356245 rs61759467	669	E>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA360516061 rs1561518235	676	G>D		No	ClinGen Ensembl
CA123042781 rs986029626	683	Y>N		No	ClinGen Ensembl
rs766895746 CA3356241	685	S>G		No	ClinGen ExAC gnomAD
rs1367639069 CA360515905	689	E>D		No	ClinGen gnomAD
CA123042771 rs866149530	699	K>R		No	ClinGen Ensembl
CA360515736 rs1313264952	705	S>Y		No	ClinGen gnomAD
CA360515714 rs1481957374	707	P>L		No	ClinGen gnomAD
CA360515703 rs1341195384	709	K>R		No	ClinGen gnomAD
rs1336037321 CA360515637	718	M>L		No	ClinGen gnomAD
CA3356237 rs761936409	720	A>V		No	ClinGen ExAC gnomAD
CA360515614 rs1168999681	721	L>S		No	ClinGen gnomAD
CA123041364 rs995307332	732	R>K		No	ClinGen Ensembl
rs1411869458 CA360515320	734	Y>F		No	ClinGen gnomAD
CA360515274 rs1245375497	738	S>G		No	ClinGen gnomAD
CA360515241 rs1221021058	740	G>C		No	ClinGen gnomAD
CA360515235 rs1561514398	740	G>V		No	ClinGen Ensembl
CA123041351 rs905034565	747	G>V		No	ClinGen TOPMed
rs1300110517 CA360515099	751	I>V		No	ClinGen TOPMed
rs146815874 CA123041343	752	M>I		No	ClinGen 1000Genomes
CA360514165 rs1358434443	762	C>R		No	ClinGen TOPMed
CA123041335 rs776177948	765	I>V		No	ClinGen Ensembl
rs765418408 CA3356211	768	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1210210931 CA360514092	768	P>S		No	ClinGen TOPMed
rs1292738107 CA360514078	769	D>E		No	ClinGen gnomAD
CA3356209 rs773245358	769	D>N		No	ClinGen ExAC gnomAD
rs148446729 CA123041323	769	D>V		No	ClinGen ESP
rs144567251 CA3356208	774	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144567251 CA3356207	774	Y>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA360514020 rs1315869763	775	N>H		No	ClinGen gnomAD
CA3356206 rs773955381	775	N>S		No	ClinGen ExAC TOPMed gnomAD
CA360514008 rs1248298048	776	K>R		No	ClinGen TOPMed
CA3356203 rs755689913	779	A>G		No	ClinGen ExAC TOPMed gnomAD
CA3356202 rs755689913	779	A>V		No	ClinGen ExAC TOPMed gnomAD
CA3356180 rs781480692	785	R>C		No	ClinGen ExAC gnomAD
rs771575470 CA360513927	786	S>I		No	ClinGen ExAC TOPMed gnomAD
rs771575470 CA3356179	786	S>T		No	ClinGen ExAC TOPMed gnomAD
rs778281967 CA3356177	788	G>R		No	ClinGen ExAC TOPMed gnomAD
CA360513888 rs758876162	792	L>F		No	ClinGen ExAC gnomAD
CA3356176 rs758876162	792	L>I		No	ClinGen ExAC gnomAD
rs754973109 CA3356173	804	G>S		No	ClinGen ExAC gnomAD
rs1449435423 CA360513804	805	N>S		No	ClinGen TOPMed gnomAD
rs1167118920 CA360513758	812	Q>P		No	ClinGen gnomAD
CA3356171 rs201318150	815	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs753957067 CA3356172	815	R>W		No	ClinGen ExAC gnomAD
rs77339279 CA123040809	821	A>S		No	ClinGen Ensembl
CA360513694 rs1207368830	821	A>V		No	ClinGen TOPMed gnomAD
CA360513687 rs1331900230	822	E>D		No	ClinGen gnomAD
CA3356168 rs763854534	827	R>H		No	ClinGen ExAC gnomAD
CA360513631 rs1438800018	830	P>S		No	ClinGen TOPMed
rs1561510274 CA360513457	833	R>T		No	ClinGen Ensembl
CA3356150 rs751449134	838	I>V		No	ClinGen ExAC gnomAD
rs758059158 CA3356148	840	G>A		No	ClinGen ExAC gnomAD
CA3356147 rs752545348	841	E>D		No	ClinGen ExAC
rs375834691 CA360513279	842	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA360513178 rs1278550830	846	A>G		No	ClinGen TOPMed
CA123039736 rs867532781	849	H>Y		No	ClinGen Ensembl
rs1347618716 CA360513041	852	A>V		No	ClinGen TOPMed
rs371774346 CA3356143	856	E>V		No	ClinGen ESP ExAC gnomAD
CA360512042 rs1297229268	863	S>T		No	ClinGen gnomAD
rs1435870034 CA360512011	865	R>K		No	ClinGen gnomAD
rs1483818570 CA360511866	880	V>I		No	ClinGen TOPMed
CA3356104 rs770953113	881	I>V		No	ClinGen ExAC gnomAD
rs1047803184 CA123038739	892	L>V		No	ClinGen Ensembl
rs866293344 CA123038737	895	Q>H		No	ClinGen TOPMed gnomAD
rs754766427 CA3356101	897	R>K		No	ClinGen ExAC gnomAD
CA360511243 rs1209284267	911	R>C		No	ClinGen gnomAD
CA360511219 rs1294998490	913	V>A		No	ClinGen gnomAD
CA360511205 rs1226529370	914	T>I		No	ClinGen TOPMed gnomAD
rs1226529370 CA360511209	914	T>K		No	ClinGen TOPMed gnomAD
CA360511161 rs1483530864	918	V>I		No	ClinGen gnomAD
CA123038296 rs1039522597	930	M>I		No	ClinGen Ensembl
CA3356089 rs770208254	931	V>I		No	ClinGen ExAC gnomAD
rs1322524822 CA360510924	936	V>I		No	ClinGen gnomAD
rs981954055 CA123038292	943	T>S		No	ClinGen TOPMed
CA360510813 rs1390491827	947	V>I		No	ClinGen TOPMed
CA123038285 rs942558840	949	H>R		No	ClinGen gnomAD
CA360510569 rs1272831845	958	T>A		No	ClinGen TOPMed
rs773135987 CA3356074	959	P>I		No	ClinGen ExAC
CA360510530 rs1454877279	960	F>L		No	ClinGen gnomAD
rs1255187609 CA360510525	961	N>D		No	ClinGen gnomAD
CA360510488 rs1186747852	963	E>*		No	ClinGen gnomAD
CA123038003 rs866912027	964	E>*		No	ClinGen Ensembl
rs751045207 CA3356073	964	E>A		No	ClinGen ExAC gnomAD
CA3356072 rs199740650	966	S>A		No	ClinGen ExAC TOPMed gnomAD
CA360510393 rs1217895518	968	I>V		No	ClinGen gnomAD
CA360510276 rs1277665816	973	A>V		No	ClinGen gnomAD
CA360510263 rs1268470228	974	E>G		No	ClinGen gnomAD
CA360510273 rs1339649036	974	E>Q		No	ClinGen TOPMed
rs1580410957 CA360510254	975	E>K		No	ClinGen Ensembl
CA360510148 rs1295035224	980	P>H		No	ClinGen TOPMed gnomAD
CA360510104 rs1580410884	983	E>K		No	ClinGen Ensembl
rs760170819 CA123037986	984	E>G		No	ClinGen Ensembl
CA360510088 rs1433674972	984	E>K		No	ClinGen gnomAD
rs1289920137 CA360510063	985	Q>K		No	ClinGen TOPMed gnomAD
rs918509859 CA360510044	986	E>*		No	ClinGen gnomAD
rs918509859 CA123037982	986	E>K		No	ClinGen gnomAD
rs1222200236 CA360510023	988	Q>K		No	ClinGen gnomAD
CA360509943 rs1320641583	990	M>I		No	ClinGen gnomAD
CA3356038 rs567874073	990	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA360509915 rs1234477331	992	I>M		No	ClinGen gnomAD
rs762012636 CA3356036	997	K>N		No	ClinGen ExAC gnomAD
rs1401005806 CA360509845	998	R>T		No	ClinGen TOPMed
rs1397479032 CA360509824	1000	E>K		No	ClinGen gnomAD
CA360509798 rs1300158137	1002	H>R		No	ClinGen TOPMed gnomAD
CA3356034 rs141105188	1006	P>L		No	ClinGen ESP ExAC gnomAD
CA360509736 rs1234430100	1007	G>R		No	ClinGen TOPMed
rs752218177 CA3356033	1007	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1409734663 CA360509670	1013	D>G		No	ClinGen gnomAD
CA360509650 rs1241558224	1014	E>D		No	ClinGen TOPMed
CA360509614 rs1181183822	1018	Q>K		No	ClinGen gnomAD
CA3356015 rs759359545	1025	S>A		No	ClinGen ExAC gnomAD
CA3356013 rs770580999	1027	M>V		No	ClinGen ExAC gnomAD
CA360509334 rs1215352802	1029	E>G		No	ClinGen TOPMed
rs1262876241 CA360509337	1029	E>K		No	ClinGen gnomAD
CA123037216 rs918106034	1030	D>G		No	ClinGen TOPMed
rs1435189454 CA360509319	1031	D>V		No	ClinGen gnomAD
CA360509313 rs1231601363	1032	I>V		No	ClinGen gnomAD
rs1347417790 CA360509307	1033	E>Q		No	ClinGen gnomAD
CA3356012 rs760551966	1039	N>D		No	ClinGen ExAC gnomAD
CA360509263 rs760551966	1039	N>H		No	ClinGen ExAC gnomAD
rs1382716096 CA360509169	1050	D>E		No	ClinGen gnomAD
rs984417884 CA123037214	1050	D>N		No	ClinGen Ensembl
CA3356009 rs747857005	1051	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs768256433 CA360509116	1054	R>L		No	ClinGen ExAC gnomAD
CA3356007 rs768256433	1054	R>Q		No	ClinGen ExAC gnomAD
CA360509074 rs1389047920	1058	E>Q		No	ClinGen gnomAD
CA3356006 rs749739705	1059	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA3356004 rs143777686	1061	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3356003 rs756364023	1065	E>A		No	ClinGen ExAC TOPMed gnomAD
rs1430334623 CA360508930	1066	E>K		No	ClinGen TOPMed
CA360508903 rs1580405019	1067	I>M		No	ClinGen Ensembl
rs374768464 CA3356001	1069	M>T		No	ClinGen ESP ExAC gnomAD
CA3356000 rs757543911	1076	C>F		No	ClinGen ExAC gnomAD
CA123037178 rs113093967	1076	C>R		No	ClinGen Ensembl
rs370760984 CA3355999	1077	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA360508699 rs1310541123	1079	Q>R		No	ClinGen gnomAD
CA360525084 rs1275876630	1083	N>D		No	ClinGen TOPMed
CA3355977 rs373533676	1083	N>S		No	ClinGen ESP ExAC TOPMed
CA3355976 rs752837399	1084	G>E		No	ClinGen ExAC gnomAD
CA360525074 rs752837399	1084	G>V		No	ClinGen ExAC gnomAD
CA360525068 rs1387988248	1085	S>I		No	ClinGen TOPMed gnomAD
rs1387988248 CA360525070	1085	S>N		No	ClinGen TOPMed gnomAD
CA3355975 rs765291720	1086	E>D		No	ClinGen ExAC gnomAD
CA360525049 rs1419283790	1088	R>K		No	ClinGen gnomAD
CA3355973 rs750404976	1089	R>C		No	ClinGen ExAC TOPMed gnomAD
rs370090244 CA3355972	1089	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs370090244 CA123055345	1089	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA3355971 rs761620763	1090	S>G		No	ClinGen ExAC gnomAD
rs1490604656 CA360525035	1091	R>G		No	ClinGen TOPMed
CA3355970 rs540364203	1092	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA360525021 rs1287824715	1093	R>G		No	ClinGen gnomAD
rs763818188 CA3355969	1094	R>G		No	ClinGen ExAC gnomAD
CA3355968 rs375044501	1094	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA360524998 rs1430581863	1096	S>C		No	ClinGen TOPMed
CA3355967 rs572983052	1096	S>P		No	ClinGen 1000Genomes ExAC gnomAD
rs371278722 CA3355966	1097	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs771051017 CA123055318	1103	I>T		No	ClinGen Ensembl
CA360524939 rs1443926670	1105	E>G		No	ClinGen gnomAD
CA3355965 rs746354594	1106	G>R		No	ClinGen ExAC gnomAD
rs1561496679 CA360524913	1109	P>S		No	ClinGen Ensembl
rs1324620276 CA360524908	1110	K>E		No	ClinGen gnomAD
rs777299872 CA3355964	1110	K>R		No	ClinGen ExAC gnomAD
CA360524892 rs1395818748	1112	R>C		No	ClinGen TOPMed gnomAD
CA360524866 rs1456473355	1116	R>Q		No	ClinGen TOPMed
rs959672214 CA123055310	1118	I>L		No	ClinGen TOPMed
CA123055307 rs959672214	1118	I>V		No	ClinGen TOPMed
rs771381137 CA3355963	1120	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA123055304 rs768739262	1120	R>W		No	ClinGen TOPMed gnomAD
rs747380543 CA3355962	1121	E>D		No	ClinGen ExAC gnomAD
rs146805381 CA3355961	1122	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA360524829 rs1471289655	1123	I>V		No	ClinGen gnomAD
rs1251436985 CA360524820	1124	K>T		No	ClinGen gnomAD
CA3355960 rs199700859	1127	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA123055294 rs966973801	1129	A>G		No	ClinGen Ensembl
CA360524764 rs1319452284	1132	R>T		No	ClinGen TOPMed
CA360524707 rs1292843852	1138	Y>C		No	ClinGen gnomAD
rs1213542899 CA360524657	1145	L>R		No	ClinGen TOPMed gnomAD
rs375150038 CA3355945	1146	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA360524611 rs1172367651	1150	A>G		No	ClinGen gnomAD
CA360524610 rs1172367651	1150	A>V		No	ClinGen gnomAD
rs1417155331 CA360524608	1151	I>V		No	ClinGen gnomAD
rs1188390938 CA360524598	1152	A>T		No	ClinGen TOPMed gnomAD
rs1476091482 CA360524586	1153	R>G		No	ClinGen gnomAD
rs772437174 CA3355925	1154	D>E		No	ClinGen ExAC gnomAD
rs370712441 CA3355924	1158	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA123054389 rs959039378	1163	T>I		No	ClinGen gnomAD
rs1340441858 CA360524424	1164	D>E		No	ClinGen gnomAD
CA3355923 rs774568255	1164	D>G		No	ClinGen ExAC gnomAD
rs1332564136 CA360524418	1165	L>F		No	ClinGen gnomAD
CA360524404 rs1388130344	1166	R>K		No	ClinGen TOPMed
rs754885419 CA123054384	1166	R>S		No	ClinGen Ensembl
CA360524396 rs1431355122	1167	R>G		No	ClinGen TOPMed
rs1034535287 CA123054381	1167	R>Q		No	ClinGen TOPMed gnomAD
CA360524322 rs1273152232	1173	H>N		No	ClinGen gnomAD
rs1323901761 CA360524259	1177	I>V		No	ClinGen TOPMed gnomAD
CA360524184 rs1305084967	1182	D>G		No	ClinGen gnomAD
CA123054371 rs951793419	1182	D>N		No	ClinGen TOPMed
rs1333437889 CA360524119	1187	T>A		No	ClinGen gnomAD
CA360524088 rs1340509892	1189	R>P		No	ClinGen TOPMed
CA123054367 rs373584761	1190	T>R		No	ClinGen ESP TOPMed
rs778821717 CA3355892	1193	R>K		No	ClinGen ExAC gnomAD
CA360523580 rs1340170152	1194	L>P		No	ClinGen TOPMed
CA3355891 rs754870023	1195	G>E		No	ClinGen ExAC
CA3355890 rs753492281	1197	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1208061968 CA360523529	1202	F>C		No	ClinGen TOPMed
CA3355886 rs767115458	1204	I>M		No	ClinGen ExAC gnomAD
rs749916713 CA3355887	1204	I>V		No	ClinGen ExAC gnomAD
CA360523502 rs1258839251	1207	V>I		No	ClinGen TOPMed
CA360523470 rs1486734005	1212	K>Q		No	ClinGen TOPMed
CA123054011 rs191286652	1214	V>I		No	ClinGen 1000Genomes
rs368823885 CA3355884	1215	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA360523452 rs368823885	1215	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA123053995 rs1015997137	1217	H>R		No	ClinGen TOPMed
rs775622737 CA3355881	1223	P>S		No	ClinGen ExAC gnomAD
rs775622737 CA360523395	1223	P>T		No	ClinGen ExAC gnomAD
CA360523379 rs1276115947	1225	H>R		No	ClinGen gnomAD
CA3355879 rs759859081	1226	K>E		No	ClinGen ExAC gnomAD
CA3355878 rs776571148	1227	S>C		No	ClinGen ExAC gnomAD
CA3355877 rs778499107	1228	I>V		No	ClinGen ExAC TOPMed gnomAD
CA123053979 rs981352210	1229	P>L		No	ClinGen TOPMed
CA360523340 rs1173819884	1231	D>E		No	ClinGen gnomAD
CA360523326 rs1362495825	1233	E>D		No	ClinGen TOPMed
rs1167781887 CA360523277	1238	Y>C		No	ClinGen gnomAD
CA3355862 rs146552309	1239	T>S		No	ClinGen ESP ExAC gnomAD
CA360523183 rs759647586	1247	A>P		No	ClinGen ExAC TOPMed gnomAD
rs759647586 CA3355860	1247	A>T		No	ClinGen ExAC TOPMed gnomAD
CA3355859 rs776963243	1248	H>Y		No	ClinGen ExAC
rs1056839549 CA123053885	1250	D>A		No	ClinGen TOPMed
rs200447490 CA3355858	1251	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA3355857 rs760869497	1254	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1345484342 CA360523081	1254	G>S		No	ClinGen TOPMed
CA3355855 rs768731808	1256	E>D		No	ClinGen ExAC gnomAD
rs1389859282 CA360522986	1260	N>S		No	ClinGen gnomAD
rs1580381282 CA360522943	1263	I>T		No	ClinGen Ensembl
CA360522928 rs1280773779	1265	I>V		No	ClinGen TOPMed
rs1196518118 CA360522918	1266	Y>C		No	ClinGen gnomAD
rs745460043 CA3355851	1283	S>R		No	ClinGen ExAC TOPMed gnomAD
CA360522713 rs1301794540	1292	D>E		No	ClinGen TOPMed gnomAD
rs1368187885 CA360522714	1292	D>V		No	ClinGen gnomAD
CA123053511 rs1021413507	1294	D>N		No	ClinGen TOPMed gnomAD
CA360522697 rs1325939587	1295	K>E		No	ClinGen gnomAD
rs1416731320 CA360522591	1310	I>L		No	ClinGen TOPMed
CA360522563 rs1213355343	1314	S>G		No	ClinGen gnomAD
CA3355826 rs185870058	1314	S>I		No	ClinGen 1000Genomes ExAC gnomAD
CA360522545 rs1333900219	1316	D>G		No	ClinGen TOPMed
rs1286237026 CA360522104	1321	E>A		No	ClinGen gnomAD
rs746729319 CA3355825	1324	S>P		No	ClinGen ExAC gnomAD
rs777233487 CA3355824	1324	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs771620696 CA3355823	1325	G>A		No	ClinGen ExAC gnomAD
CA3355822 rs200542776	1326	A>V		No	ClinGen ExAC TOPMed gnomAD
rs747699483 CA3355803	1328	S>I		No	ClinGen ExAC TOPMed gnomAD
CA3355801 rs199762293	1331	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1409289402 CA360521892	1331	R>W		No	ClinGen gnomAD
rs749832566 CA3355800	1332	R>K		No	ClinGen ExAC gnomAD
rs181466243 CA3355799	1334	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1483910921 CA360521797	1338	K>R		No	ClinGen gnomAD
rs199899386 CA3355796	1342	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA360521733 rs1203284783	1342	M>T		No	ClinGen gnomAD
rs1561488320 CA360521736	1342	M>V		No	ClinGen Ensembl
CA360521683 rs1158771963	1345	I>T		No	ClinGen TOPMed gnomAD
rs1044810221 CA123053226	1346	K>E		No	ClinGen TOPMed
CA3355794 rs757223796	1347	V>M		No	ClinGen ExAC gnomAD
CA123053223 rs970137656	1349	E>A		No	ClinGen TOPMed gnomAD
CA3355793 rs751644313	1349	E>D		No	ClinGen ExAC gnomAD
rs1312194655 CA360521568	1352	K>N		No	ClinGen gnomAD
rs764144932 CA360521561	1353	S>N		No	ClinGen ExAC gnomAD
rs754913506 CA3355791	1353	S>R		No	ClinGen ExAC TOPMed gnomAD
rs764144932 CA3355792	1353	S>T		No	ClinGen ExAC gnomAD
rs1296518940 CA360521556	1354	D>N		No	ClinGen gnomAD
rs533494115 CA123053219	1355	S>C		No	ClinGen Ensembl
rs1561488198 CA360521523	1356	S>Y		No	ClinGen Ensembl
rs753768357 CA3355790	1357	P>R		No	ClinGen ExAC TOPMed gnomAD
rs150770889 CA3355788	1360	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1561488155 CA360521470	1361	E>Q		No	ClinGen Ensembl
CA123053214 rs775337071	1363	S>T		No	ClinGen TOPMed
CA360521413 rs1469262479	1365	E>K		No	ClinGen gnomAD
CA3355784 rs767171470	1369	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1216200143 CA561308811	1370	L>*		No	ClinGen gnomAD
CA123052893 rs943510592	1370	L>F		No	ClinGen Ensembl
rs1245267380 CA360520848	1370	L>V		No	ClinGen TOPMed
CA360520790 rs1445445418	1374	K>E		No	ClinGen TOPMed
rs763616787 CA3355762	1376	D>G		No	ClinGen ExAC TOPMed gnomAD
CA3355763 rs773927909	1376	D>H		No	ClinGen ExAC gnomAD
CA3355761 rs762369741	1377	G>D		No	ClinGen ExAC gnomAD
rs1319823318 CA360520748	1377	G>S		No	ClinGen gnomAD
rs1455289775 CA360520710	1379	E>D		No	ClinGen TOPMed
CA123052888 rs142188121	1379	E>G		No	ClinGen ESP
CA3355760 rs776080123	1380	R>K		No	ClinGen ExAC gnomAD
rs1159019597 CA360520685	1381	S>F		No	ClinGen TOPMed
rs987629424 CA123052885	1381	S>P		No	ClinGen Ensembl
rs1297149797 CA360520682	1382	K>Q		No	ClinGen gnomAD
CA360520627 rs1362110123	1386	V>M		No	ClinGen gnomAD
CA3355757 rs777103555	1388	D>G		No	ClinGen ExAC TOPMed gnomAD
CA360520600 rs1433621526	1388	D>H		No	ClinGen gnomAD
rs771249173 CA3355756	1389	A>T		No	ClinGen ExAC gnomAD
CA360520579 rs1435235990	1389	A>V		No	ClinGen gnomAD
CA360520575 rs1383134240	1390	P>A		No	ClinGen TOPMed
CA360520566 rs1390553932	1390	P>L		No	ClinGen TOPMed gnomAD
CA360520555 rs1413531144	1391	V>A		No	ClinGen gnomAD
CA3355753 rs772124392	1391	V>F		No	ClinGen ExAC gnomAD
rs370593857 CA3355752	1393	I>V		No	ClinGen ESP ExAC gnomAD
rs376449239 CA3355751	1394	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs571604064 CA123052876	1394	T>M		No	ClinGen gnomAD
CA3355748 rs781022370	1397	G>R		No	ClinGen ExAC gnomAD
CA360520481 rs781022370	1397	G>S		No	ClinGen ExAC gnomAD
CA360520443 rs1016569341	1400	V>F		No	ClinGen gnomAD
CA360520446 rs1016569341	1400	V>I		No	ClinGen gnomAD
rs1016569341 CA123052869	1400	V>L		No	ClinGen gnomAD
CA360520403 rs1580370023	1405	E>Q		No	ClinGen Ensembl
CA3355746 rs751153238	1408	E>G		No	ClinGen ExAC gnomAD
CA3355745 rs763663466	1413	T>I		No	ClinGen ExAC gnomAD
rs564010044 CA3355743	1414	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs147154039 CA3355741	1415	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA360520323 rs1173618842	1416	I>T		No	ClinGen gnomAD
rs1208624603 CA360519627	1420	R>K		No	ClinGen TOPMed
CA123051705 rs909387418	1422	R>K		No	ClinGen TOPMed
rs1434144099 CA360519542	1427	A>T		No	ClinGen TOPMed
CA3355721 rs369338956	1442	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs161941 CA360519411	1445	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA360519412 rs1421764235	1445	E>V		No	ClinGen TOPMed
CA360519409 rs1161880604	1446	H>D		No	ClinGen gnomAD
rs1161880604 CA360519407	1446	H>Y		No	ClinGen gnomAD
CA360519343 rs1472574622	1455	G>R		No	ClinGen gnomAD
CA360519325 rs1447049375	1457	H>R		No	ClinGen gnomAD
CA3355719 rs752444165	1458	I>V		No	ClinGen ExAC gnomAD
rs764789985 CA3355718	1461	C>Y		No	ClinGen ExAC gnomAD
CA3355716 rs754305052	1463	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs766810280 CA3355715	1467	N>D		No	ClinGen ExAC TOPMed gnomAD
CA360519250 rs1580354823	1468	P>H		No	ClinGen Ensembl
CA360519246 rs1209059965	1469	E>Q		No	ClinGen gnomAD
CA360519238 rs1391314630	1470	Q>E		No	ClinGen TOPMed
rs928013036 CA123051694	1470	Q>R		No	ClinGen Ensembl
CA360519226 rs1285612526	1471	I>M		No	ClinGen gnomAD
CA360519231 rs1356602609	1471	I>V		No	ClinGen gnomAD
CA360518332 rs1329235381	1479	W>*		No	ClinGen gnomAD
CA3355672 rs373147957	1489	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA360518253 rs1172616668	1490	A>G		No	ClinGen gnomAD
CA360518218 rs1412702917	1495	K>T		No	ClinGen gnomAD
CA3355671 rs749012080	1497	Y>C		No	ClinGen ExAC
CA360518198 rs1472645734	1498	K>E		No	ClinGen TOPMed
CA360518174 rs1426548280	1501	I>S		No	ClinGen TOPMed
rs1038481532 CA123051031	1504	R>Q		No	ClinGen TOPMed
rs779411940 CA3355670	1504	R>W		No	ClinGen ExAC gnomAD
rs1286503610 CA360517974	1510	N>K		No	ClinGen TOPMed
rs1377927360 CA360517969	1511	S>G		No	ClinGen gnomAD
rs553111541 CA3355653	1512	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA3355651 rs377063711	1513	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs769123490 CA3355650	1515	S>G		No	ClinGen ExAC TOPMed gnomAD
CA3355649 rs374166699	1518	N>H		No	ClinGen ExAC TOPMed gnomAD
CA360517799 rs1487713532	1518	N>K		No	ClinGen gnomAD
rs780744455 CA3355648	1519	P>R		No	ClinGen ExAC gnomAD
CA3355647 rs752107996	1520	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs141802026 CA3355644	1521	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA360517734 rs778060142	1521	V>L		No	ClinGen ExAC TOPMed gnomAD
rs778060142 CA3355645	1521	V>M		No	ClinGen ExAC TOPMed gnomAD
rs765508910 CA3355642	1525	P>R		No	ClinGen ExAC gnomAD
rs752794119 CA3355643	1525	P>S		No	ClinGen ExAC TOPMed gnomAD
CA360517643 rs752794119	1525	P>T		No	ClinGen ExAC TOPMed gnomAD
CA3355614 rs755196943	1526	D>V		No	ClinGen ExAC gnomAD
CA360516511 rs1189570743	1527	V>A		No	ClinGen TOPMed gnomAD
rs1189570743 CA360516510	1527	V>G		No	ClinGen TOPMed gnomAD
CA3355613 rs573978009	1527	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3355612 rs573978009	1527	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756295608 CA3355611	1531	K>R		No	ClinGen ExAC gnomAD
CA360516468 rs1487442473	1533	N>S		No	ClinGen gnomAD
CA123050778 rs999562224	1534	T>A		No	ClinGen TOPMed
CA360516460 rs1252514958	1534	T>I		No	ClinGen TOPMed
CA123050777 rs1021707475	1535	N>D		No	ClinGen TOPMed
rs1177225255 CA360516451	1536	H>D		No	ClinGen gnomAD
CA3355608 rs762860408	1537	D>E		No	ClinGen ExAC gnomAD
rs144459308 CA3355609	1537	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs61749620 CA123050775	1538	D>E		No	ClinGen Ensembl
rs1488628182 CA360516434	1538	D>G		No	ClinGen gnomAD
CA3355606 rs775320788	1541	R>T		No	ClinGen ExAC gnomAD
rs764986978 CA3355604	1542	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1580340655 CA360516394	1544	Y>N		No	ClinGen Ensembl
rs770390161 CA3355601	1547	D>E		No	ClinGen ExAC TOPMed gnomAD
CA3355603 rs537528110	1547	D>V		No	ClinGen 1000Genomes ExAC gnomAD
CA3355600 rs746545554	1548	R>G		No	ClinGen ExAC TOPMed gnomAD
CA123050773 rs201110676	1549	H>P		No	ClinGen gnomAD
CA3355597 rs755404931 CA3355596	1552	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA3355598 rs772600392	1552	Q>P		No	ClinGen ExAC gnomAD
CA3355593 rs780451053	1554	H>Q		No	ClinGen ExAC gnomAD
rs749452130 CA3355594	1554	H>R		No	ClinGen ExAC gnomAD
rs1337962802 CA360516317	1555	D>E		No	ClinGen gnomAD
CA360516319 rs1436378647	1555	D>G		No	ClinGen TOPMed
CA360516314 rs1273501972	1556	H>D		No	ClinGen TOPMed
rs200720746 CA123050771	1557	H>R		No	ClinGen 1000Genomes
rs1471136285 CA360516294	1558	K>N		No	ClinGen gnomAD
CA3355591 rs72775611	1560	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3355592 rs72775611	1560	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138351327 CA3355590	1561	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs372967823 CA3355589	1562	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA123050769 rs878862495	1563	G>R		No	ClinGen Ensembl
CA360516255 rs1375062259	1564	D>E		No	ClinGen gnomAD
rs199701368 CA3355588	1575	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA360516118 rs1185441760	1575	P>S		No	ClinGen gnomAD
rs765018225 CA3355587	1576	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA360516028 rs1196591741	1580	S>I		No	ClinGen TOPMed
CA360515984 rs1248250579	1583	K>E		No	ClinGen TOPMed
rs776218690 CA3355584	1584	D>H		No	ClinGen ExAC gnomAD
CA3355582 rs150452878	1585	H>R		No	ClinGen ESP ExAC
rs765994988 CA3355583	1585	H>Y		No	ClinGen ExAC gnomAD
rs1263327520 CA360515931	1586	R>C		No	ClinGen gnomAD
CA3355580 rs771539453	1587	D>G		No	ClinGen ExAC gnomAD
CA3355581 rs772774091	1587	D>N		No	ClinGen ExAC gnomAD
CA360515911 rs771539453	1587	D>V		No	ClinGen ExAC gnomAD
CA360515873 rs1455029496	1589	D>A		No	ClinGen gnomAD
CA360515876 rs1561473382	1589	D>N		No	ClinGen Ensembl
CA360515855 rs1478212044	1590	H>P		No	ClinGen TOPMed
rs748629725 CA3355579	1591	Y>C		No	ClinGen ExAC gnomAD
CA3355578 rs774723846	1592	K>R		No	ClinGen ExAC gnomAD
CA3355577 rs749690054	1593	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA3355573 rs140640668	1594	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA360515779 rs1398829073	1594	D>H		No	ClinGen gnomAD
CA360515776 rs1398829073	1594	D>N		No	ClinGen gnomAD
CA3355575 rs780610355	1594	D>V		No	ClinGen ExAC
rs368136330 CA123050544	1596	R>S		No	ClinGen ESP TOPMed gnomAD
rs1561471203 CA360515549	1597	Y>D		No	ClinGen Ensembl
rs770299771 CA3355557	1601	R>K		No	ClinGen ExAC gnomAD
CA360515493 rs1490408382	1604	H>R		No	ClinGen gnomAD
rs770996270 CA3355553	1607	L>V		No	ClinGen ExAC gnomAD
rs747038742 CA3355552	1609	D>V		No	ClinGen ExAC gnomAD
rs1245937957 CA360515436	1612	S>N		No	ClinGen gnomAD
rs548381672 CA3355550	1615	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA3355547 rs755864254 CA360515315	1621	G>R		No	ClinGen ExAC TOPMed gnomAD
rs750050422 CA3355546	1622	S>N		No	ClinGen ExAC gnomAD
CA3355545 rs767095541	1629	S>C		No	ClinGen ExAC TOPMed gnomAD
rs1250179271 CA360515155	1631	H>Q		No	ClinGen TOPMed
CA3355544 rs374564623	1632	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA123050531 rs991357740	1634	H>D		No	ClinGen TOPMed
CA360515122 rs1252745571	1634	H>R		No	ClinGen TOPMed
CA360515098 rs1360000747	1636	D>A		No	ClinGen gnomAD
CA123050528 rs763499924	1638	R>P		No	ClinGen ExAC TOPMed gnomAD
rs763499924 CA3355541	1638	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3355542 rs141316125	1638	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA3355540 rs569176797	1639	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1480645533 CA360515044	1640	H>Y		No	ClinGen gnomAD
rs967096328 CA123050525	1641	S>L		No	ClinGen TOPMed
CA360515014 rs1430930029	1642	D>Y		No	ClinGen gnomAD
CA123050523 rs146540815	1644	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs370473736 CA360514973	1644	R>L		No	ClinGen ESP ExAC gnomAD
rs370473736 CA3355537	1644	R>Q		No	ClinGen ESP ExAC gnomAD
CA3355538 rs146540815	1644	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs368457831 CA3355534	1647	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA360514937 rs368457831	1647	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA3355533 rs142842461	1650	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3355532 rs772152139	1651	H>Q		No	ClinGen ExAC gnomAD
CA360514871 rs1326111325	1652	H>Y		No	ClinGen TOPMed
CA360514850 rs749154860	1653	K>R		No	ClinGen ExAC TOPMed gnomAD
CA3355531 rs749154860	1653	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1217001629 CA360514831	1654	S>F		No	ClinGen gnomAD
CA3355529 rs755887026	1660	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA360514742 rs1432998923	1660	Y>H		No	ClinGen gnomAD
CA3355528 rs745624693	1661	H>Q		No	ClinGen ExAC gnomAD
CA3355527 rs781077322	1662	S>L		No	ClinGen ExAC gnomAD
rs756851728 CA360514692	1663	D>A		No	ClinGen ExAC TOPMed gnomAD
rs756851728 CA3355526	1663	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1017849137 CA123050511	1664	W>C		No	ClinGen TOPMed
rs1333095052 CA360514647	1666	M>V		No	ClinGen TOPMed
CA360514621 rs1477289620	1667	D>G		No	ClinGen gnomAD
CA123050509 rs1007733611	1667	D>N		No	ClinGen TOPMed gnomAD
rs751274775 CA3355525	1668	H>R		No	ClinGen ExAC gnomAD
rs1017468867 CA123050508	1668	H>Y		No	ClinGen Ensembl
rs763634465 CA3355524	1670	A>T		No	ClinGen ExAC gnomAD
rs374214718 CA3355523	1672	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs374214718 CA3355522	1672	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA3355521 rs765642449	1673	S>G		No	ClinGen ExAC TOPMed gnomAD
rs760130915 CA3355520	1675	P>R		No	ClinGen ExAC gnomAD
CA360514512 rs1298136934	1675	P>S		No	ClinGen gnomAD
rs754204955 CA3355519	1677	S>A		No	ClinGen ExAC gnomAD
CA3355516 rs773426332	1679	L>P		No	ClinGen ExAC gnomAD
CA3355517 rs371119801	1679	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA123050499 rs987621351	1681	Q>*		No	ClinGen Ensembl
rs1216366768 CA360514427	1681	Q>R		No	ClinGen gnomAD
CA360514405 rs748248071 CA3355514	1682	R>S		No	ClinGen ExAC gnomAD
CA123050495 rs79267787	1684	P>H		No	ClinGen ExAC gnomAD
CA3355513 rs79267787	1684	P>L		No	ClinGen ExAC gnomAD
rs61749618 CA123050496	1684	P>S		No	ClinGen Ensembl
rs369337999 CA123050488	1685	Y>C		No	ClinGen Ensembl
rs371987706 CA123050490	1685	Y>D		No	ClinGen Ensembl
rs1329030670 CA360514326	1687	S>F		No	ClinGen gnomAD
CA3355511 rs191444273	1688	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA360514317 rs191444273	1688	R>T		No	ClinGen 1000Genomes ExAC gnomAD
CA360514298 rs1354686140	1689	S>F		No	ClinGen gnomAD
CA3355510 rs745880893	1692	E>Q		No	ClinGen ExAC gnomAD
rs1049198675 CA123050484	1693	H>P		No	ClinGen TOPMed gnomAD
rs780831794 CA3355509	1694	S>*		No	ClinGen ExAC gnomAD
CA123050482 rs1025949180	1694	S>A		No	ClinGen Ensembl
CA3355507 rs372834632	1696	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA3355506 rs376365422	1696	E>D		No	ClinGen ESP ExAC gnomAD
CA360514203 rs758175315	1698	K>R		No	ClinGen ExAC gnomAD
CA3355505 rs758175315	1698	K>T		No	ClinGen ExAC gnomAD
rs752225439 CA3355504	1699	S>G		No	ClinGen ExAC TOPMed gnomAD
CA3355503 rs764868629	1699	S>N		No	ClinGen ExAC gnomAD
CA3355502 rs755428560	1701	P>L		No	ClinGen ExAC TOPMed gnomAD
rs755428560 CA360514184	1701	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs1286427540 CA360514176	1702	E>D		No	ClinGen Ensembl
rs754382547 CA3355501	1703	H>R		No	ClinGen ExAC
rs1320185969 CA360514172	1703	H>Y		No	ClinGen TOPMed gnomAD
rs1291129005 CA360514121	1706	S>N		No	ClinGen gnomAD
rs200109773 CA3355500	1708	R>W		No	ClinGen ESP ExAC TOPMed gnomAD

1 associated diseases with O14646

[MIM: 617682]: Pilarowski-Bjornsson syndrome (PILBOS)

An autosomal dominant disorder characterized by developmental delay, speech apraxia, intellectual disability, autism, and facial dysmorphic features. Some patients may have seizures. {ECO:0000269|PubMed:28866611}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal dominant disorder characterized by developmental delay, speech apraxia, intellectual disability, autism, and facial dysmorphic features. Some patients may have seizures. {ECO:0000269|PubMed:28866611}. Note=The disease is caused by variants affecting the gene represented in this entry.

11 regional properties for O14646

Type	Name	Position	InterPro Accession
domain	SNF2, N-terminal	499 - 764	IPR000330
domain	Chromo/chromo shadow domain	270 - 364	IPR000953-1
domain	Chromo/chromo shadow domain	387 - 452	IPR000953-2
domain	Helicase, C-terminal	792 - 943	IPR001650
domain	Helicase superfamily 1/2, ATP-binding domain	477 - 674	IPR014001
conserved_site	Chromo domain, conserved site	318 - 338	IPR023779-1
conserved_site	Chromo domain, conserved site	409 - 429	IPR023779-2
domain	Chromo domain	310 - 354	IPR023780-1
domain	Chromo domain	389 - 443	IPR023780-2
domain	Chromodomain-helicase-DNA-binding protein 1-like, C-terminal domain	1396 - 1500	IPR025260
domain	CDH1/2, SANT-Helical linker 1	1124 - 1210	IPR040793

Functions

		Description
EC Number	3.6.4.12	Acting on ATP; involved in cellular and subcellular movement
Subcellular Localization	Nucleus Cytoplasm	Is released into the cytoplasm when cells enter mitosis and is reincorporated into chromatin during telophase-cytokinesis
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
nuclear chromosome	A chromosome that encodes the nuclear genome and is found in the nucleus of a eukaryotic cell during the cell cycle phases when the nucleus is intact.
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
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity	Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
ATP-dependent chromatin remodeler activity	An activity, driven by ATP hydrolysis, that modulates the contacts between histones and DNA, resulting in a change in chromosome architecture within the nucleosomal array, leading to chromatin remodeling.
chromatin binding	Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
DNA helicase activity	Unwinding of a DNA helix, driven by ATP hydrolysis.
histone binding	Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription.
methylated histone binding	Binding to a histone in which a residue has been modified by methylation.

4 GO annotations of biological process

Name	Definition
chromatin remodeling	A dynamic process of chromatin reorganization resulting in changes to chromatin structure. These changes allow DNA metabolic processes such as transcriptional regulation, DNA recombination, DNA repair, and DNA replication.
nucleosome organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of one or more nucleosomes.
positive regulation by host of viral transcription	Any process in which a host organism activates or increases the frequency, rate or extent of viral transcription, the synthesis of either RNA on a template of DNA or DNA on a template of RNA.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.

6 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q32KP7		Uncharacterized protein C17orf64 homolog	Bos taurus (Bovine)	PR
Q86WR6	C17orf64	Uncharacterized protein C17orf64	Homo sapiens (Human)	PR
Q12873	CHD3	Chromodomain-helicase-DNA-binding protein 3	Homo sapiens (Human)	PR
Q14839	CHD4	Chromodomain-helicase-DNA-binding protein 4	Homo sapiens (Human)	PR
Q8TDI0	CHD5	Chromodomain-helicase-DNA-binding protein 5	Homo sapiens (Human)	PR
P40201	Chd1	Chromodomain-helicase-DNA-binding protein 1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MNGHSDEESV	RNSSGESSQS	DDDSGSASGS	GSGSSSGSSS	DGSSSQSGSS	DSDSGSESGS
70	80	90	100	110	120
QSESESDTSR	ENKVQAKPPK	VDGAEFWKSS	PSILAVQRSA	ILKKQQQQQQ	QQQHQASSNS
130	140	150	160	170	180
GSEEDSSSSE	DSDDSSSEVK	RKKHKDEDWQ	MSGSGSPSQS	GSDSESEEER	EKSSCDETES
190	200	210	220	230	240
DYEPKNKVKS	RKPQNRSKSK	NGKKILGQKK	RQIDSSEEDD	DEEDYDNDKR	SSRRQATVNV
250	260	270	280	290	300
SYKEDEEMKT	DSDDLLEVCG	EDVPQPEEEE	FETIERFMDC	RIGRKGATGA	TTTIYAVEAD
310	320	330	340	350	360
GDPNAGFEKN	KEPGEIQYLI	KWKGWSHIHN	TWETEETLKQ	QNVRGMKKLD	NYKKKDQETK
370	380	390	400	410	420
RWLKNASPED	VEYYNCQQEL	TDDLHKQYQI	VERIIAHSNQ	KSAAGYPDYY	CKWQGLPYSE
430	440	450	460	470	480
CSWEDGALIS	KKFQACIDEY	FSRNQSKTTP	FKDCKVLKQR	PRFVALKKQP	SYIGGHEGLE
490	500	510	520	530	540
LRDYQLNGLN	WLAHSWCKGN	SCILADEMGL	GKTIQTISFL	NYLFHEHQLY	GPFLLVVPLS
550	560	570	580	590	600
TLTSWQREIQ	TWASQMNAVV	YLGDINSRNM	IRTHEWTHHQ	TKRLKFNILL	TTYEILLKDK
610	620	630	640	650	660
AFLGGLNWAF	IGVDEAHRLK	NDDSLLYKTL	IDFKSNHRLL	ITGTPLQNSL	KELWSLLHFI
670	680	690	700	710	720
MPEKFSSWED	FEEEHGKGRE	YGYASLHKEL	EPFLLRRVKK	DVEKSLPAKV	EQILRMEMSA
730	740	750	760	770	780
LQKQYYKWIL	TRNYKALSKG	SKGSTSGFLN	IMMELKKCCN	HCYLIKPPDN	NEFYNKQEAL
790	800	810	820	830	840
QHLIRSSGKL	ILLDKLLIRL	RERGNRVLIF	SQMVRMLDIL	AEYLKYRQFP	FQRLDGSIKG
850	860	870	880	890	900
ELRKQALDHF	NAEGSEDFCF	LLSTRAGGLG	INLASADTVV	IFDSDWNPQN	DLQAQARAHR
910	920	930	940	950	960
IGQKKQVNIY	RLVTKGSVEE	DILERAKKKM	VLDHLVIQRM	DTTGKTVLHT	GSAPSSSTPF
970	980	990	1000	1010	1020
NKEELSAILK	FGAEELFKEP	EGEEQEPQEM	DIDEILKRAE	THENEPGPLT	VGDELLSQFK
1030	1040	1050	1060	1070	1080
VANFSNMDED	DIELEPERNS	KNWEEIIPED	QRRRLEEEER	QKELEEIYML	PRMRNCAKQI
1090	1100	1110	1120	1130	1140
SFNGSEGRRS	RSRRYSGSDS	DSISEGKRPK	KRGRPRTIPR	ENIKGFSDAE	IRRFIKSYKK
1150	1160	1170	1180	1190	1200
FGGPLERLDA	IARDAELVDK	SETDLRRLGE	LVHNGCIKAL	KDSSSGTERT	GGRLGKVKGP
1210	1220	1230	1240	1250	1260
TFRISGVQVN	AKLVISHEEE	LIPLHKSIPS	DPEERKQYTI	PCHTKAAHFD	IDWGKEDDSN
1270	1280	1290	1300	1310	1320
LLIGIYEYGY	GSWEMIKMDP	DLSLTHKILP	DDPDKKPQAK	QLQTRADYLI	KLLSRDLAKK
1330	1340	1350	1360	1370	1380
EALSGAGSSK	RRKARAKKNK	AMKSIKVKEE	IKSDSSPLPS	EKSDEDDDKL	SESKSDGRER
1390	1400	1410	1420	1430	1440
SKKSSVSDAP	VHITASGEPV	PISEESEELD	QKTFSICKER	MRPVKAALKQ	LDRPEKGLSE
1450	1460	1470	1480	1490	1500
REQLEHTRQC	LIKIGDHITE	CLKEYTNPEQ	IKQWRKNLWI	FVSKFTEFDA	RKLHKLYKHA
1510	1520	1530	1540	1550	1560
IKKRQESQQN	SDQNSNLNPH	VIRNPDVERL	KENTNHDDSS	RDSYSSDRHL	TQYHDHHKDR
1570	1580	1590	1600	1610	1620
HQGDSYKKSD	SRKRPYSSFS	NGKDHRDWDH	YKQDSRYYSD	REKHRKLDDH	RSRDHRSNLE
1630	1640	1650	1660	1670	1680
GSLKDRSHSD	HRSHSDHRLH	SDHRSSSEYT	HHKSSRDYRY	HSDWQMDHRA	SSSGPRSPLD
1690	1700
QRSPYGSRSP	FEHSVEHKST	PEHTWSSRKT