AiPD: Autoinhibited Protein Database

Q86T65

Gene name	DAAM2
Protein name	Disheveled-associated activator of morphogenesis 2
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23500
EC number
Protein Class

Descriptions

Diaphanous-related formins (DRFs), such as DAAM2, play central roles in actin dynamics through assembling linear actin filaments. In human DAAM1, the amino-terminal diaphanous inhibitory domain (DID) and the carboxyl-terminal diaphanous autoinhibitory domain (DAD) segment form an intramolecular interaction to restrain the actin assembly activity of FH1-FH2 domains. This autoinhibition is disrupted by Rho GTPase that is able to bind to the GBD domain near DID domain.

Autoinhibitory domains (AIDs)

1012-1043 (DAD domain) SS

Target domain	36-473 (DID domain)
Relief mechanism	Partner binding
Assay

AID

1012-1043 (DAD domain)

Target domain

36-473 (DID domain)

Relief mechanism

Partner binding (Rho GTPase binding to GBD domain)

Assay

Accessory elements

No accessory elements

References

Higashi T et al. (2010) "Flightless-I (Fli-I) regulates the actin assembly activity of diaphanous-related formins (DRFs) Daam1 and mDia1 in cooperation with active Rho GTPase", The Journal of biological chemistry, 285, 16231-8

Ramabhadran V et al. (2013) "Actin monomers activate inverted formin 2 by competing with its autoinhibitory interaction", The Journal of biological chemistry, 288, 26847-55

Autoinhibited structure

Activated structure

1 structures for Q86T65

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q86T65-F1	Predicted				AlphaFoldDB

876 variants for Q86T65

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA3794582 rs770971141	2	A>V		No	ClinGen ExAC gnomAD
CA3794583 rs548086802	3	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs189802189 CA3794585	4	R>C		No	ClinGen 1000Genomes ExAC TOPMed
COSM1568365 rs775379327 CA3794586	4	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs189802189 CA364354244	4	R>S		No	ClinGen 1000Genomes ExAC TOPMed
rs527543903 CA3794588	7	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3794589 rs201680252	8	H>P		No	ClinGen ExAC TOPMed gnomAD
CA3794590 rs761373847	8	H>Q		No	ClinGen ExAC gnomAD
CA364354282 rs11965120	9	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs567170970 CA3794592	14	L>M		No	ClinGen 1000Genomes ExAC gnomAD
rs369889524 CA3794593	15	C>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs373643190 CA3794594	16	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs199767843 CA364354335	18	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199767843 CA3794596 RCV000950704	18	G>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA364354342 rs1400765186	19	G>C		No	ClinGen TOPMed gnomAD
rs751949763 CA3794598	19	G>D		No	ClinGen ExAC gnomAD
CA364354358 rs1277412271	21	D>E		No	ClinGen gnomAD
CA137770523 rs968166545	21	D>N		No	ClinGen TOPMed gnomAD
CA137770524 rs979601420	22	I>V		No	ClinGen TOPMed gnomAD
CA3794600 rs375928580	24	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1356603219 CA364354390	26	N>S		No	ClinGen gnomAD
rs200592505 CA364354401	28	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200592505 CA3794602	28	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3794601 rs745986379	28	R>W		No	ClinGen ExAC TOPMed gnomAD
CA3794603 rs34924764	29	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1275811856 CA364354415	30	N>S		No	ClinGen TOPMed gnomAD
CA3794604 rs749092391	31	H>N		No	ClinGen ExAC gnomAD
CA364354423 rs768631427	31	H>Q		No	ClinGen ExAC gnomAD
rs1323909595 CA364354429	32	P>L		No	ClinGen TOPMed
CA3794606 rs774209641	32	P>T		No	ClinGen ExAC TOPMed gnomAD
CA364354474 rs761588902	38	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1418335768 CA364354480	39	S>C		No	ClinGen TOPMed
CA364354477 rs1159663214	39	S>P		No	ClinGen TOPMed
CA364354488 rs1405483273	40	S>R		No	ClinGen TOPMed
CA364354495 rs1424097124	41	P>L		No	ClinGen gnomAD
rs1383514473 CA364354492	41	P>S		No	ClinGen gnomAD
rs1383514473 CA364354490	41	P>T		No	ClinGen gnomAD
rs1162600287 CA364354497	42	I>V		No	ClinGen gnomAD
CA3794609 COSM1079041 rs772573007	43	P>L	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3794613 rs375245894	45	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA3794614 rs368227414	45	A>V		No	ClinGen ESP ExAC gnomAD
CA3794616 rs757660725	46	E>A		No	ClinGen ExAC gnomAD
CA3794615 rs751981397	46	E>K		No	ClinGen ExAC gnomAD
CA3794617 rs781749211	47	E>D		No	ClinGen ExAC gnomAD
CA364354535 rs1215660291	48	L>F		No	ClinGen TOPMed
rs780412197 CA3794620	51	R>C		No	ClinGen ExAC TOPMed gnomAD
rs780412197 CA364354555	51	R>G		No	ClinGen ExAC TOPMed gnomAD
rs749464558 CA3794621	51	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1298140369 CA364354610	57	D>E		No	ClinGen TOPMed gnomAD
CA364354615 rs1179808756	58	E>G		No	ClinGen TOPMed
rs371921284 COSM1079042 CA137770969	66	R>*	endometrium [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
rs1234324562 CA364354673	66	R>L		No	ClinGen gnomAD
rs1469950908 CA364354685	68	A>D		No	ClinGen TOPMed
CA137770970 rs536807181	69	M>I		No	ClinGen TOPMed
rs1224075166 CA364354690	69	M>V		No	ClinGen TOPMed
rs370116070 CA3794641	70	F>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370116070 CA3794640	70	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs372193160 CA3794642	71	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA364354714 rs1265056284	73	P>S		No	ClinGen gnomAD
CA364354718 rs370112679	74	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs370112679 CA3794644	74	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs188480329 CA3794645	75	E>A		No	ClinGen 1000Genomes ExAC gnomAD
rs201047462 CA3794646	81	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA364354782 rs1402436508	82	C>F		No	ClinGen TOPMed gnomAD
rs1402436508 CA364354781	82	C>S		No	ClinGen TOPMed gnomAD
CA364354780 rs1402436508	82	C>Y		No	ClinGen TOPMed gnomAD
CA137770973 rs1057251951	83	S>N		No	ClinGen TOPMed gnomAD
CA364354794 rs1303683246	84	K>E		No	ClinGen gnomAD
rs1315311889 CA364354795	84	K>T		No	ClinGen gnomAD
CA3794649 rs527709602	85	K>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1355912018 CA364354811	86	K>M		No	ClinGen gnomAD
CA364029539 rs1450226636	87	E>K		No	ClinGen gnomAD
rs1562035568 CA364029554	88	Q>H		No	ClinGen Ensembl
RCV000998594 rs1582695874 CA364029574	91	P>L		No	ClinGen ClinVar Ensembl dbSNP
rs751328364 CA3794679	92	N>D		No	ClinGen ExAC gnomAD
rs548915329 CA3794680	93	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA364029594 rs1278661396	94	L>P		No	ClinGen gnomAD
CA364029598 rs1319700326	95	A>S		No	ClinGen TOPMed gnomAD
CA364029604 rs1217188836	96	T>A		No	ClinGen gnomAD
rs1217188836 CA364029603	96	T>P		No	ClinGen gnomAD
CA364029613 rs1208065815	97	S>I		No	ClinGen TOPMed
CA364029614 rs1277465033	97	S>R		No	ClinGen TOPMed gnomAD
rs1312282459 CA364029622	98	W>*		No	ClinGen gnomAD
CA3794682 rs750320175	99	P>R		No	ClinGen ExAC gnomAD
CA364029635 rs1261699111	100	D>A		No	ClinGen gnomAD
CA364029639 rs930571735	101	Y>D		No	ClinGen gnomAD
CA137616457 rs930571735	101	Y>H		No	ClinGen gnomAD
CA3794685 rs748771781	103	I>M		No	ClinGen ExAC TOPMed gnomAD
rs768402824 CA3794686	104	D>H		No	ClinGen ExAC TOPMed gnomAD
rs768402824 CA364029659	104	D>N		No	ClinGen ExAC TOPMed gnomAD
CA364029661 rs1172224436	104	D>V		No	ClinGen gnomAD
CA364029660 rs768402824	104	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA137616477 rs376069544	105	R>C		No	ClinGen ESP TOPMed gnomAD
rs6919807 VAR_055805 CA3794687	105	R>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs6919807 CA3794688	105	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA364029667 rs376069544	105	R>S		No	ClinGen ESP TOPMed gnomAD
CA364029670 rs1372338501	106	I>V		No	ClinGen TOPMed
CA364029689 rs1359956231	108	S>F		No	ClinGen gnomAD
rs1582696109 CA364029693	109	M>R		No	ClinGen Ensembl
rs771994239 CA137616495	110	A>P		No	ClinGen gnomAD
rs771994239 CA364029699	110	A>T		No	ClinGen gnomAD
rs776862321 CA3794690 COSM336877	111	A>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs754592396 CA3794704	112	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1470103599 CA364029735	113	Q>H		No	ClinGen gnomAD
rs778576748 CA3794705	113	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA137616861 rs573533468	116	Y>C		No	ClinGen Ensembl
rs574596379 CA3794708	117	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747735397 CA3794706	117	A>T		No	ClinGen ExAC gnomAD
CA3794707 rs574596379	117	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3794710 rs770301199	118	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1365491347 CA364029763	118	F>S		No	ClinGen TOPMed gnomAD
CA364029774 rs1162578827	120	E>K		No	ClinGen gnomAD
CA364029779 rs1430826883	120	E>V		No	ClinGen TOPMed
CA364029782 rs1391253919	121	E>K		No	ClinGen gnomAD
rs1391253919 CA364029783	121	E>Q		No	ClinGen gnomAD
CA3794711 rs371082714	123	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA364029817 rs1399040594	125	M>I		No	ClinGen TOPMed gnomAD
CA364029822 rs1446912595	126	R>K		No	ClinGen gnomAD
rs1474234971 CA364029847	129	V>A		No	ClinGen TOPMed
COSM451415 rs1338159414 CA364029849	130	V>M	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
rs761984417 CA3794715	131	E>K		No	ClinGen ExAC TOPMed gnomAD
CA3794716 rs375635373	133	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1465913959 CA364029876	134	K>E		No	ClinGen TOPMed gnomAD
rs1217115548 CA364029900	138	R>G		No	ClinGen gnomAD
CA364029902 rs543612445	138	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3794717 rs543612445	138	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA364029920 rs1458349144	141	P>S		No	ClinGen gnomAD
rs1403971261 CA364029929	142	M>R		No	ClinGen gnomAD
CA3794718 rs760428379	143	R>K		No	ClinGen ExAC TOPMed gnomAD
rs757954699 CA3794733	146	T>N		No	ClinGen ExAC TOPMed gnomAD
CA3794735 rs772308516 COSM596343	147	R>C	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3794736 rs773363674	147	R>H		No	ClinGen ExAC TOPMed gnomAD
CA364029986 rs1230855652	149	I>T		No	ClinGen TOPMed gnomAD
CA364030006 rs1172612530	152	E>G		No	ClinGen gnomAD
rs760963740 CA3794737	155	T>I		No	ClinGen ExAC
CA3794739 rs776598813	159	N>D		No	ClinGen ExAC gnomAD
rs1359720299 CA364030053	160	F>I		No	ClinGen TOPMed
CA364030063 rs1341530988	161	L>F		No	ClinGen gnomAD
CA364030067 rs374390550	162	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA364030070 rs777910962	162	R>L		No	ClinGen TOPMed
CA364030068 rs777910962	162	R>Q		No	ClinGen TOPMed
CA3794741 rs374390550	162	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs752221158 CA3794742	163	S>N		No	ClinGen ExAC gnomAD
CA364030080 rs1425359857	164	M>V		No	ClinGen TOPMed
rs746895842 CA3794743	165	D>E		No	ClinGen ExAC gnomAD
rs763792634 CA3794744	166	H>D		No	ClinGen ExAC gnomAD
CA137618401 rs12663405	167	A>T		No	ClinGen gnomAD
CA364030107 rs1214446748	168	T>A		No	ClinGen gnomAD
CA364030108 rs1214446748	168	T>P		No	ClinGen gnomAD
rs1486079417 CA364030116	169	C>S		No	ClinGen gnomAD
rs780244988 CA3794747	170	E>D		No	ClinGen ExAC gnomAD
CA3794748 rs367610796	172	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200589550 CA3794749	172	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1562038416 CA364030159	175	T>I		No	ClinGen Ensembl
CA364030167 rs1488240483	177	L>V		No	ClinGen TOPMed
CA3794750 rs779437771	178	I>T		No	ClinGen ExAC
rs1396417113 CA364030188	180	C>S		No	ClinGen gnomAD
CA3794752 rs771985367	181	I>V		No	ClinGen ExAC gnomAD
rs368626143 CA364030213	184	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3794755 rs771206720	191	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA364030265 rs1390440173	191	R>W		No	ClinGen gnomAD
rs776541648 CA3794756	197	Q>R		No	ClinGen ExAC gnomAD
rs115708591 CA3794757	198	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA364030329 rs1239444032	201	I>T		No	ClinGen gnomAD
CA364030326 rs1270824389	201	I>V		No	ClinGen TOPMed
CA364030336 rs1378966737	202	S>T		No	ClinGen TOPMed gnomAD
rs1339754025 CA364030351	204	I>T		No	ClinGen TOPMed
rs1308471961 CA364030360	205	A>V		No	ClinGen gnomAD
COSM1202930 CA3794759 rs375083979	209	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA3794758 rs375083979	209	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762963954 CA3794760	209	R>H		No	ClinGen ExAC TOPMed gnomAD
rs763449975 CA3794761	210	T>A		No	ClinGen ExAC gnomAD
CA3794762 rs751116202	212	N>D		No	ClinGen ExAC gnomAD
COSM1079046 CA137618480 rs1031303054	212	N>S	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
CA3794763 rs761323333 COSM319785	214	K>N	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA137618500 rs746092446	217	V>E		No	ClinGen Ensembl
rs369507727 CA3794764	217	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs369507727 CA3794765	217	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA364030528 rs1177429411	218	A>V		No	ClinGen gnomAD
rs915535480 CA137618509	222	I>M		No	ClinGen TOPMed
CA364030612 rs1163280754	225	A>V		No	ClinGen gnomAD
CA3794769 rs758975961	229	V>M		No	ClinGen ExAC TOPMed gnomAD
rs777664933 CA3794770	230	P>S		No	ClinGen ExAC gnomAD
rs1446169943 CA364030737	234	K>N		No	ClinGen gnomAD
CA364030814 rs1225449186	240	M>I		No	ClinGen gnomAD
CA137618539 rs948398903	244	Q>*		No	ClinGen TOPMed
CA3794773 rs372793457	244	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3794774 rs114233535	245	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs114233535 CA3794775	245	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1274699530 CA364030866	247	A>T		No	ClinGen gnomAD
CA3794776 rs775432314	247	A>V		No	ClinGen ExAC gnomAD
rs555190581 CA3794777	249	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1233014096 CA364030888	250	R>L		No	ClinGen TOPMed gnomAD
CA364030886 rs1233014096	250	R>Q		No	ClinGen TOPMed gnomAD
rs575251556 CA3794778	252	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3794779 rs773713153	252	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1317238736 CA364030910	254	Q>R		No	ClinGen TOPMed
CA364030931 rs1190665540	255	T>N		No	ClinGen gnomAD
CA364030937 rs1171484750	256	L>P		No	ClinGen TOPMed
CA3794792 rs781432003	259	E>K		No	ClinGen ExAC TOPMed gnomAD
CA364030963 rs1175506230	260	L>R		No	ClinGen gnomAD
CA364030960 rs1412872811	260	L>V		No	ClinGen gnomAD
COSM1444402 CA137619501 rs925350528	262	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs925350528 CA137619498	262	R>G		No	ClinGen TOPMed
rs549002342 CA3794793	262	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA3794794 rs756440457	264	L>P		No	ClinGen ExAC gnomAD
CA364030987 rs1240695296	265	G>C		No	ClinGen TOPMed
rs199545289 CA3794797	266	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199545289 CA3794796	266	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779949569 CA3794795	266	R>W		No	ClinGen ExAC TOPMed gnomAD
CA137619543 rs1045710205	268	R>Q		No	ClinGen TOPMed gnomAD
CA3794799 rs747598915	268	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1268187599 CA364031036	273	L>V		No	ClinGen TOPMed
CA3794803 rs760271436	277	I>N		No	ClinGen ExAC gnomAD
rs377619363 CA3794802	277	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3794804 rs766068630	278	M>I		No	ClinGen ExAC gnomAD
rs551076398 CA3794805	279	S>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1244168082 CA364031079	280	F>L		No	ClinGen gnomAD
CA3794806 rs570981965	282	N>D		No	ClinGen 1000Genomes ExAC gnomAD
CA3794807 rs769452736	286	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1399925142 CA364031160	287	A>P		No	ClinGen gnomAD
rs1399925142 CA364031158 COSM3830472	287	A>T	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
CA364031173 rs1318771063	288	G>E		No	ClinGen gnomAD
CA364031186 rs1346720292	289	A>V		No	ClinGen TOPMed gnomAD
rs772017388 CA3794819	297	R>C		No	ClinGen ExAC gnomAD
CA137620680 rs898550504	297	R>H		No	ClinGen TOPMed gnomAD
rs772017388 CA137620678	297	R>S		No	ClinGen ExAC gnomAD
CA364031637 rs1234475691	299	H>R		No	ClinGen gnomAD
CA364031647 rs1163887224	301	R>Q		No	ClinGen gnomAD
CA137620717 rs995610152	301	R>W		No	ClinGen TOPMed gnomAD
CA3794820 rs374061585	306	M>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1339187244 CA364031703	309	I>M		No	ClinGen gnomAD
rs770562217 CA3794822	309	I>V		No	ClinGen ExAC TOPMed gnomAD
CA364031715 rs1414672043	311	P>L		No	ClinGen gnomAD
rs1469168286 CA364031718	312	V>M		No	ClinGen TOPMed gnomAD
rs1582706995 CA364031728	313	I>T		No	ClinGen Ensembl
rs1294341419 CA364031726	313	I>V		No	ClinGen gnomAD
COSM3941743 rs1357742581 CA364031744	315	K>R	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
CA3794825 rs768996183	317	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3794824 rs759121825	317	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1582707055 CA364031767	319	H>P		No	ClinGen Ensembl
rs370812440 CA137620767	322	A>G		No	ClinGen Ensembl
CA3794827 rs762364231	324	L>P		No	ClinGen ExAC gnomAD
rs1582707090 CA364031810	325	D>E		No	ClinGen Ensembl
rs531101009 CA364031870	331	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA137621779 rs1035177917	332	E>K		No	ClinGen gnomAD
rs1321759429 CA364031879	333	M>V		No	ClinGen gnomAD
rs1370362900 CA364031887	334	V>M		No	ClinGen gnomAD
rs200668867 CA3794840	335	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371806282 CA3794839	335	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1206896300 CA364031903	336	N>K		No	ClinGen TOPMed
rs1226728128 CA364031904	337	E>K		No	ClinGen TOPMed gnomAD
CA364031940 rs1236766876	341	E>D		No	ClinGen gnomAD
rs1486068193 CA364031959	345	R>G		No	ClinGen gnomAD
CA364031963 rs1206532110	345	R>K		No	ClinGen gnomAD
rs1250689529 CA364031971	346	F>C		No	ClinGen gnomAD
rs1027404379 CA364031983	348	M>L		No	ClinGen TOPMed gnomAD
rs1027404379 CA137621832	348	M>V		No	ClinGen TOPMed gnomAD
rs1415007399 CA364032074	350	H>L		No	ClinGen TOPMed
rs751428606 CA3794856	350	H>Y		No	ClinGen ExAC gnomAD
CA3794858 rs780707234	352	D>N		No	ClinGen ExAC gnomAD
rs369978168 CA137623223	354	K>R		No	ClinGen ESP TOPMed gnomAD
CA3794860 rs374360387	355	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA364032126 rs1445858332	355	S>R		No	ClinGen gnomAD
rs938555716 CA137623227	356	A>S		No	ClinGen TOPMed gnomAD
rs1481935488 CA364032151	357	S>Y		No	ClinGen gnomAD
rs1257342192 CA364032164	358	Q>H		No	ClinGen gnomAD
CA3794861 rs779919155	358	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs1356595723 CA364032189	360	F>S		No	ClinGen TOPMed gnomAD
CA3794866 rs377708608	370	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA3794865 rs377708608	370	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA364032330 rs1582712860	373	Y>S		No	ClinGen Ensembl
rs759600690 CA3794868	374	P>S		No	ClinGen ExAC gnomAD
rs369723767 CA3794869	379	V>A		No	ClinGen ESP ExAC
rs1207420939 CA364032405	381	H>Y		No	ClinGen TOPMed
CA364032430 rs1285629708	383	C>F		No	ClinGen TOPMed gnomAD
rs775628952 CA3794870	385	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs763164119 CA3794871	386	M>I		No	ClinGen ExAC gnomAD
rs764351776 CA3794889	390	R>P		No	ClinGen ExAC gnomAD
CA137624544 rs764351776	390	R>Q		No	ClinGen ExAC gnomAD
rs375639481 CA3794888	390	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774104304 CA3794890	391	N>S		No	ClinGen ExAC gnomAD
rs551041219 CA364032601	392	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3794892 rs551041219	392	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs898420175 CA137624623	396	Q>R		No	ClinGen TOPMed
CA364032695 rs1446781246	399	Q>H		No	ClinGen gnomAD
CA364032705 rs1582716104	400	L>R		No	ClinGen Ensembl
CA3794894 rs756083740	400	L>V		No	ClinGen ExAC gnomAD
rs753445244 CA3794896	403	R>C		No	ClinGen ExAC TOPMed gnomAD
rs753445244 CA3794897	403	R>G		No	ClinGen ExAC TOPMed gnomAD
rs533527149 COSM1444404 CA3794898	403	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA3794899 rs561512895	404	I>V		No	ClinGen ExAC gnomAD
rs757502658 CA3794900	405	L>F		No	ClinGen ExAC gnomAD
rs764479389 CA137624653	406	Q>R		No	ClinGen gnomAD
rs1433830127 CA364032768	407	Q>K		No	ClinGen TOPMed
rs374611199 CA3794902	408	I>T		No	ClinGen ESP ExAC gnomAD
rs780087641 CA3794904	411	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1371071585 CA364032823	411	Q>P		No	ClinGen gnomAD
rs201940753 CA3794905	412	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA3794906 rs201940753	412	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1435790953 CA364032841	413	E>K		No	ClinGen TOPMed
CA3794908 rs762109044 COSM1444405	414	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM1202931 CA3794907 rs372132582	414	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1376140449 CA364032864	415	G>R		No	ClinGen gnomAD
rs1296864163 CA364032882	417	D>H		No	ClinGen gnomAD
rs1328732675 CA364032897	418	P>T		No	ClinGen gnomAD
rs755456141 CA137624700	419	D>V		No	ClinGen Ensembl
CA137624715 rs1038151208	420	L>P		No	ClinGen TOPMed
CA364032932 rs1562045151	422	P>A		No	ClinGen Ensembl
CA3794911 rs765724688	422	P>L		No	ClinGen ExAC TOPMed gnomAD
rs753393703 CA3794913	423	L>S		No	ClinGen ExAC TOPMed gnomAD
rs1200933772 CA364032950	424	E>K		No	ClinGen gnomAD
CA364032972 rs1231053841	425	N>K		No	ClinGen TOPMed gnomAD
CA3794915 COSM3394177 rs757546813	432	V>I	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs757546813 CA364033042	432	V>L		No	ClinGen ExAC TOPMed gnomAD
CA137624798 rs1006827416	434	M>V		No	ClinGen TOPMed
CA3794934 rs752273213	436	I>V		No	ClinGen ExAC gnomAD
rs976208789 CA137626991	438	E>K		No	ClinGen TOPMed gnomAD
rs142705524 CA137627007	439	N>K		No	ClinGen 1000Genomes
rs763849168 CA3794936	439	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1395972995 CA364033842	444	W>C		No	ClinGen TOPMed gnomAD
CA364033839 rs1414500673	444	W>L		No	ClinGen gnomAD
CA3794937 rs183543237	447	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs373169061 CA3794939	449	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs373169061 CA3794938	449	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1049888272 CA137627029	451	F>L		No	ClinGen gnomAD
COSM70390 rs377282686 CA3794942	452	R>Q	ovary [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA3794941 rs762052729	452	R>W		No	ClinGen ExAC TOPMed gnomAD
rs373715976 CA3794961	456	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs895070643 CA364033998	456	M>K		No	ClinGen TOPMed gnomAD
CA137627254 rs895070643	456	M>R		No	ClinGen TOPMed gnomAD
rs1464984326 CA364034005	457	E>K		No	ClinGen gnomAD
CA3794962 rs565664562	458	L>F		No	ClinGen ExAC TOPMed gnomAD
CA3794963 rs765836408	461	R>C		No	ClinGen ExAC TOPMed gnomAD
CA3794964 rs752703893 COSM1444406	461	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA3794965 rs758442635	464	R>T		No	ClinGen ExAC gnomAD
CA364034098 rs1386001391	465	K>R		No	ClinGen gnomAD
rs1427897271 CA364034110	466	E>G		No	ClinGen TOPMed
rs777715851 CA3794966	467	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs977118903 CA137627283	467	R>W		No	ClinGen TOPMed gnomAD
CA3794967 rs747194430	468	E>D		No	ClinGen ExAC gnomAD
rs1440093062 CA364034129	468	E>G		No	ClinGen gnomAD
CA364034140 rs1313765403	469	C>Y		No	ClinGen gnomAD
CA3794969 rs376962522	470	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1270793608 CA364034272	480	M>I		No	ClinGen gnomAD
CA3794971 rs374320242	480	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA3794973 rs539417807	481	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM3662517 rs201159453 CA3794972	481	R>W	liver [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA3794975 COSM187736 rs192352327	482	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs761409474 CA3794976	483	L>M		No	ClinGen ExAC TOPMed gnomAD
CA137627360 rs966094413	484	N>D		No	ClinGen Ensembl
rs767210169 CA3794977	484	N>K		No	ClinGen ExAC TOPMed gnomAD
CA3794978 rs776951704	486	M>I		No	ClinGen ExAC gnomAD
rs1162971530 CA364034360	488	D>E		No	ClinGen TOPMed gnomAD
CA3794979 rs375370038	491	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1393855736 CA364034381	491	A>T		No	ClinGen gnomAD
CA3794980 rs371661111	492	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1403235142 CA364034400	493	E>Q		No	ClinGen TOPMed
rs758856458 CA3794982	496	E>G		No	ClinGen ExAC TOPMed gnomAD
rs990411291 CA137627419	496	E>K		No	ClinGen gnomAD
COSM171075 CA3794983 rs375733561	498	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs751737330 CA3794984	498	R>H		No	ClinGen ExAC gnomAD
rs946395110 CA364034484	501	R>G		No	ClinGen gnomAD
CA3794985 rs369945548	501	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs946395110 CA137627475	501	R>W		No	ClinGen gnomAD
CA3794986 rs781627246	502	G>R		No	ClinGen ExAC gnomAD
CA364034507 rs1195730472	503	Q>R		No	ClinGen gnomAD
CA364034513 rs1252995037	504	V>L		No	ClinGen gnomAD
CA364034559 rs1582722308	508	V>G		No	ClinGen Ensembl
rs1424585308 CA364034567	509	A>G		No	ClinGen gnomAD
CA364034563 rs1417372306	509	A>T		No	ClinGen gnomAD
rs1424585308 CA364034569	509	A>V		No	ClinGen gnomAD
rs372703847 CA3794989	511	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs372703847 CA3794988	511	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA137627551 rs923712529	515	S>*		No	ClinGen gnomAD
CA364034636 rs923712529	515	S>L		No	ClinGen gnomAD
rs768504242 CA3794991	515	S>T		No	ClinGen ExAC gnomAD
CA364034685 rs1448308465	516	T>A		No	ClinGen TOPMed gnomAD
CA364034700 rs1359287872	517	G>D		No	ClinGen gnomAD
rs1433665493 CA364034709	518	P>L		No	ClinGen gnomAD
rs1050689875 CA137628300	519	V>I		No	ClinGen TOPMed gnomAD
rs762044929 CA3795003	520	S>A		No	ClinGen ExAC TOPMed gnomAD
CA137628324 rs889852609	520	S>F		No	ClinGen TOPMed gnomAD
rs569511045 CA137628345	522	P>L		No	ClinGen Ensembl
CA137628326 rs909026840	522	P>S		No	ClinGen TOPMed gnomAD
rs750593066 CA3795005	524	P>H		No	ClinGen ExAC gnomAD
CA137628353 rs1011010666	524	P>S		No	ClinGen TOPMed gnomAD
rs1011010666 CA364034757	524	P>T		No	ClinGen TOPMed gnomAD
CA364034765 rs1249953560	525	P>A		No	ClinGen TOPMed gnomAD
rs940625277 CA137628365	525	P>L		No	ClinGen TOPMed gnomAD
rs1249953560 CA364034767	525	P>S		No	ClinGen TOPMed gnomAD
rs1249953560 CA364034764	525	P>T		No	ClinGen TOPMed gnomAD
CA364034774 rs1424221001	526	G>R		No	ClinGen TOPMed gnomAD
CA364034772 rs1424221001	526	G>R		No	ClinGen TOPMed gnomAD
CA137628387 rs923147591	528	P>L		No	ClinGen Ensembl
rs1226587632 CA364034805	529	L>F		No	ClinGen TOPMed
CA364034806 rs1348619638	529	L>H		No	ClinGen TOPMed
rs1582724041 CA364034811	530	T>P		No	ClinGen Ensembl
rs933336879 CA137628401	533	S>F		No	ClinGen Ensembl
rs1050835992 CA364034858	536	T>I		No	ClinGen gnomAD
CA137628424 rs1050835992	536	T>K		No	ClinGen gnomAD
CA364034881 rs1253001994	540	L>M		No	ClinGen gnomAD
rs1433880082 CA364034897	542	P>L		No	ClinGen gnomAD
rs779853996 CA364034908	544	P>L		No	ClinGen ExAC TOPMed gnomAD
rs779853996 CA3795007	544	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1320714530 CA364034904	544	P>T		No	ClinGen gnomAD
rs1274715540 CA364034910	545	P>S		No	ClinGen gnomAD
rs753628535 CA3795008	548	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1282558601 CA364034926	548	P>T		No	ClinGen gnomAD
rs778891653 CA3795010	549	F>L		No	ClinGen ExAC gnomAD
CA364034940 rs1467147972	550	A>S		No	ClinGen gnomAD
CA3795011 rs748088738	552	C>F		No	ClinGen ExAC TOPMed gnomAD
CA3795012 rs552961265	553	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA3795013 rs777292795	554	P>A		No	ClinGen ExAC gnomAD
CA3795014 rs201570348	555	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770538092 CA3795015	556	P>R		No	ClinGen ExAC TOPMed
rs1188584024 CA364034980	557	P>A		No	ClinGen TOPMed
CA364034981 rs1188584024	557	P>S		No	ClinGen TOPMed
rs763293394 CA3795017	559	P>H		No	ClinGen ExAC gnomAD
rs1582724338 CA364034993	559	P>S		No	ClinGen Ensembl
CA364034998 rs1562048466	560	L>F		No	ClinGen Ensembl
CA364035000 rs1439192716	560	L>P		No	ClinGen TOPMed gnomAD
rs769271142 CA3795018	561	P>H		No	ClinGen ExAC TOPMed
rs769271142 CA364035006	561	P>L		No	ClinGen ExAC TOPMed
rs1357232736 CA364035011	562	P>L		No	ClinGen gnomAD
CA364035013 rs767664729	563	G>R		No	ClinGen ExAC TOPMed gnomAD
rs767664729 CA3795021	563	G>R		No	ClinGen ExAC TOPMed gnomAD
CA3795022 rs767664729	563	G>W		No	ClinGen ExAC TOPMed gnomAD
CA3795025 rs766554509	564	G>E		No	ClinGen ExAC gnomAD
CA3795024 rs766554509	564	G>V		No	ClinGen ExAC gnomAD
rs1452168764 CA364035021	565	P>T		No	ClinGen gnomAD
rs1223672479 CA364035032	566	P>L		No	ClinGen TOPMed gnomAD
rs1472107635 CA364035036	567	T>P		No	ClinGen gnomAD
CA364035051 rs1474003411	569	P>L		No	ClinGen gnomAD
rs1413658480 CA364035046	569	P>S		No	ClinGen gnomAD
CA364035072 rs199956358	573	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV000953792 CA3795029 rs199956358	573	P>L		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs369086723 CA3795028	573	P>S		No	ClinGen ESP ExAC gnomAD
rs369086723 CA364035070	573	P>T		No	ClinGen ESP ExAC gnomAD
CA3795031 rs746541722 COSM1568363	576	G>S	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1247681515 CA364035097	577	M>T		No	ClinGen TOPMed
CA3795032 rs756928452	578	G>C		No	ClinGen ExAC TOPMed gnomAD
CA364035104 rs372627478	578	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA3795033 rs372627478	578	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3795034 rs562014629	579	L>R		No	ClinGen 1000Genomes ExAC gnomAD
rs769077172 CA3795035	580	P>R		No	ClinGen ExAC gnomAD
rs371159476 CA364035119	581	L>P		No	ClinGen ESP TOPMed
CA137628577 rs371159476	581	L>R		No	ClinGen ESP TOPMed
CA3795038 rs150676991	582	P>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3795037 rs748617289	582	P>S		No	ClinGen ExAC gnomAD
CA364035145 rs1272321095	585	P>L		No	ClinGen gnomAD
CA137628580 rs984533765	587	P>R		No	ClinGen TOPMed gnomAD
CA364035154 rs1205656383	587	P>T		No	ClinGen gnomAD
CA364035163 rs1484517730	588	S>T		No	ClinGen gnomAD
CA3795040 rs564327973	591	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1296538795 CA364035192	592	P>L		No	ClinGen TOPMed
CA137628586 rs999097152	595	K>R		No	ClinGen TOPMed
rs766614312 CA3795041	597	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM171192 rs181701991 CA3795043	597	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA3795044 rs181701991	597	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3795042 rs181701991	597	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3795045 rs752533513	598	V>I		No	ClinGen ExAC gnomAD
rs758299573 CA364035233	599	P>L		No	ClinGen ExAC gnomAD
CA3795046 rs758299573	599	P>R		No	ClinGen ExAC gnomAD
CA364035229 rs1170942227	599	P>S		No	ClinGen gnomAD
rs139876341 CA3795047	600	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751065233 CA3795048	601	P>A		No	ClinGen ExAC gnomAD
rs1342364191 CA364035253	603	H>Y		No	ClinGen TOPMed gnomAD
CA3795052 rs755853016	615	E>A		No	ClinGen ExAC TOPMed gnomAD
CA3795051 rs745479278	615	E>Q		No	ClinGen ExAC gnomAD
rs749423164 CA3795101	617	R>C		No	ClinGen ExAC TOPMed gnomAD
rs34699846 VAR_055806 CA3795102	617	R>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs773987078 CA3795103	619	P>S		No	ClinGen ExAC gnomAD
CA3795106 rs773228065	622	V>I		No	ClinGen ExAC TOPMed gnomAD
CA3795107 rs760696066	625	E>A		No	ClinGen ExAC gnomAD
CA137631650 rs367794312	626	I>M		No	ClinGen ESP TOPMed gnomAD
CA364035424 rs1183716954	626	I>T		No	ClinGen gnomAD
CA3795109 rs371363130	630	Q>K		No	ClinGen ESP ExAC gnomAD
CA3795110 rs376832339	631	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA3795113 rs757583664	633	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3795112 rs200964833	633	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA3795115 rs750888520	634	I>V		No	ClinGen ExAC gnomAD
CA3795116 rs756636429	636	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1435033970 CA364035493	637	L>V		No	ClinGen gnomAD
CA3795117 rs780085555	638	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA3795118 rs749428320	639	D>G		No	ClinGen ExAC TOPMed gnomAD
CA137631705 rs548261744	641	E>G		No	ClinGen 1000Genomes
CA137631701 rs776608770	641	E>Q		No	ClinGen Ensembl
CA364035532 rs3003929	642	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs3003929 CA364035531	642	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3795121 rs748334473	643	M>R		No	ClinGen ExAC gnomAD
rs771930785 CA364035555	646	A>P		No	ClinGen ExAC gnomAD
rs771930785 CA3795122	646	A>T		No	ClinGen ExAC gnomAD
CA364035562 rs1464451581	647	Y>H		No	ClinGen gnomAD
rs1349625062 CA364035574	648	Q>H		No	ClinGen TOPMed
rs1248525666 CA364035578	649	R>K		No	ClinGen gnomAD
CA364035589 rs773176524	650	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs773176524 CA3795124	650	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA364035612 rs1227539375	652	K>Q		No	ClinGen TOPMed
rs1306526322 CA364035645	657	T>A		No	ClinGen gnomAD
rs758739113 CA3795142	657	T>I		No	ClinGen ExAC gnomAD
rs777676128 CA3795143	658	E>*		No	ClinGen ExAC
rs781124489 CA3795146	661	Y>F		No	ClinGen ExAC gnomAD
CA3795145 rs770976249	661	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs1289014933 CA364035678	662	L>Q		No	ClinGen gnomAD
rs867511069 CA137633947	663	A>T		No	ClinGen gnomAD
CA3795147 rs745796226	665	R>C		No	ClinGen ExAC TOPMed gnomAD
rs769307028 CA3795148	665	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1562055566 CA364035699	666	K>T		No	ClinGen Ensembl
CA137633961 rs898559372	668	K>E		No	ClinGen Ensembl
rs1308005846 CA364035736	672	V>I		No	ClinGen TOPMed
rs567804980 CA3795150	676	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs370740545 CA3795149	676	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs374930818 CA3795151	678	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA364035784 rs1167176033	679	Q>H		No	ClinGen gnomAD
CA364035781 rs1427085625	679	Q>P		No	ClinGen gnomAD
CA364035789 rs1459617147	680	N>S		No	ClinGen gnomAD
CA3795152 rs773563203	682	I>V		No	ClinGen ExAC gnomAD
rs1410682732 CA364035820	684	L>P		No	ClinGen gnomAD
CA137633982 rs891415844	686	S>F		No	ClinGen TOPMed gnomAD
rs530270342 CA137634647	689	K>N		No	ClinGen 1000Genomes TOPMed gnomAD
CA364035869 rs1415877841	690	L>F		No	ClinGen TOPMed
rs1408301792 CA364035881	692	N>Y		No	ClinGen gnomAD
rs1046301441 CA364035888	693	E>*		No	ClinGen TOPMed gnomAD
CA364035893 rs1227934545	693	E>D		No	ClinGen gnomAD
CA137634653 rs1046301441	693	E>K		No	ClinGen TOPMed gnomAD
CA364035896 rs1271689768	694	E>*		No	ClinGen gnomAD
CA364035902 rs1342512244	695	I>L		No	ClinGen gnomAD
rs373552829 CA3795171	696	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3795170 rs773938955	696	R>W		No	ClinGen ExAC TOPMed gnomAD
CA3795172 rs61757199	699	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA364035937 rs1207427310	700	L>F		No	ClinGen gnomAD
CA3795173 rs776884840	702	M>T		No	ClinGen ExAC gnomAD
CA364035975 rs1429610749	705	Q>R		No	ClinGen TOPMed gnomAD
CA3795175 rs765726438	706	E>G		No	ClinGen ExAC gnomAD
rs760053303 CA364035979	706	E>K		No	ClinGen ExAC gnomAD
CA3795174 rs760053303	706	E>Q		No	ClinGen ExAC gnomAD
CA137634686 rs995720214	708	L>V		No	ClinGen Ensembl
rs538751967 CA137634690	712	M>V		No	ClinGen 1000Genomes
rs552570006 CA3795177	713	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3795179 rs375206231	714	E>G		No	ClinGen ESP ExAC gnomAD
rs372115052 CA3795178	714	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA364036041 rs1382698733	715	Q>P		No	ClinGen gnomAD
CA137635949 rs933451107	720	I>T		No	ClinGen gnomAD
CA3795203 rs753737357	722	E>K		No	ClinGen ExAC gnomAD
rs1562059240 CA364036109	723	K>R		No	ClinGen Ensembl
rs778376592 CA3795205	724	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1162731945 CA364036120	725	D>N		No	ClinGen gnomAD
CA364036132 rs1423909700	726	I>T		No	ClinGen gnomAD
CA364036129 rs1418264727	726	I>V		No	ClinGen gnomAD
CA3795206 rs747674471	727	D>H		No	ClinGen ExAC TOPMed gnomAD
CA364036136 rs747674471	727	D>N		No	ClinGen ExAC TOPMed gnomAD
CA364036135 rs747674471	727	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA3795209 rs746675682	731	E>G		No	ClinGen ExAC gnomAD
CA364036163 rs1306976465	731	E>K		No	ClinGen gnomAD
CA137635961 rs910771340	733	K>T		No	ClinGen Ensembl
rs770012303 CA3795210	734	H>R		No	ClinGen ExAC gnomAD
rs1169990453 CA364036196	735	E>D		No	ClinGen gnomAD
CA364036191 rs1309933460	735	E>K		No	ClinGen gnomAD
rs370005871 CA3795212	738	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3795211 COSM187737 rs776017051	738	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3795213 rs769326433	739	M>K		No	ClinGen ExAC gnomAD
rs374577587 CA3795214	741	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs767650659 COSM3697853 CA3795216	741	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3795215 rs374577587	741	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs750202686 CA3795217	744	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1481726587 CA364036248	744	R>H		No	ClinGen gnomAD
rs750202686 CA137635992	744	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1444379378 CA364036261	746	L>F		No	ClinGen gnomAD
CA3795220 rs766115966	748	E>D		No	ClinGen ExAC gnomAD
CA3795221 rs756355622	749	M>V		No	ClinGen ExAC gnomAD
rs544326813 CA3795222	750	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1386889297 CA364036296	751	R>W		No	ClinGen gnomAD
rs972131477 CA137636121	752	I>T		No	ClinGen Ensembl
rs1463541574 CA364036325	753	D>E		No	ClinGen gnomAD
rs200287086 CA3795242	753	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1311027417 CA364036336	755	Y>H		No	ClinGen Ensembl
rs1214902987 CA364036360	758	R>*		No	ClinGen gnomAD
rs1218424743 CA364036361	758	R>Q		No	ClinGen TOPMed gnomAD
rs1189216134 CA364036373	760	Q>H		No	ClinGen gnomAD
rs776393570 CA3795243	760	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA3795244 rs570413956	760	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3795245 rs765018921	761	A>T		No	ClinGen ExAC gnomAD
CA3795247 rs752534478	766	K>N		No	ClinGen ExAC TOPMed gnomAD
rs752534478 CA3795246	766	K>N		No	ClinGen ExAC TOPMed gnomAD
rs756965663 CA3795250	771	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs751120333 CA3795249	771	R>W		No	ClinGen ExAC TOPMed gnomAD
rs781049641 CA3795251	773	A>G		No	ClinGen ExAC TOPMed gnomAD
rs750113520 CA364036465	774	E>G		No	ClinGen ExAC gnomAD
rs750113520 CA3795252	774	E>V		No	ClinGen ExAC gnomAD
rs1582753790 CA364036472	775	A>G		No	ClinGen Ensembl
CA3795253 rs201229313	776	K>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs910833013 CA137636158	778	K>I		No	ClinGen gnomAD
rs999322695 CA137636157	778	K>Q		No	ClinGen TOPMed gnomAD
rs910833013 CA364036489	778	K>R		No	ClinGen gnomAD
CA137636162 rs267601024	780	E>D		No	ClinGen Ensembl
rs779368077 CA3795254	780	E>Q		No	ClinGen ExAC gnomAD
rs1234114063 CA364036532	782	I>M		No	ClinGen gnomAD
rs755855108 CA3795271	787	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3795270 rs201714943	787	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1167074898 CA364036565	788	E>V		No	ClinGen gnomAD
CA364036569 rs1396117257	789	L>V		No	ClinGen gnomAD
rs374163638 CA3795274	791	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs374163638 CA3795273	791	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs368057856 CA3795275	791	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA364036591 rs1250496419	793	K>E		No	ClinGen TOPMed
rs200279541 CA3795276	794	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1158000 CA3795278 rs749927113	794	R>H	pancreas central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3795277 rs200279541	794	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs770093066 CA3795280	796	R>T		No	ClinGen ExAC gnomAD
rs1338426064 CA364036642	800	E>D		No	ClinGen gnomAD
rs775142960 CA3795281	801	V>F		No	ClinGen ExAC gnomAD
CA137641245 rs775142960	801	V>I		No	ClinGen ExAC gnomAD
CA364036650 rs1244624685	802	I>T		No	ClinGen TOPMed
rs1333171938 CA364036664	804	A>V		No	ClinGen TOPMed
CA364036669 rs1459553236	805	I>T		No	ClinGen gnomAD
CA137641251 rs1031117463	809	M>T		No	ClinGen Ensembl
rs1229283547 CA364036719	812	G>R		No	ClinGen TOPMed
CA3795284 rs774364960	813	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs146966805 COSM1444408 CA3795285	814	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs532444504 CA3795286	814	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772900392 CA3795288	815	G>R		No	ClinGen ExAC gnomAD
CA3795287 rs772900392	815	G>W		No	ClinGen ExAC gnomAD
CA3795289 rs766125641	816	G>S		No	ClinGen ExAC TOPMed gnomAD
CA3795292 rs764394245	817	A>T		No	ClinGen ExAC TOPMed gnomAD
CA137641277 rs867043407	817	A>V		No	ClinGen Ensembl
CA364036752 rs1469387481	818	Y>C		No	ClinGen gnomAD
rs1454510653 CA364036773	821	R>L		No	ClinGen TOPMed gnomAD
CA364036772 rs1454510653	821	R>Q		No	ClinGen TOPMed gnomAD
rs1406818181 CA364036771	821	R>W		No	ClinGen gnomAD
CA364036781 rs1315970348	823	A>T		No	ClinGen gnomAD
rs949037582 CA137641286	825	L>F		No	ClinGen TOPMed
CA3795294 rs757808730	826	N>K		No	ClinGen ExAC TOPMed gnomAD
CA364036804 rs1325578296	826	N>S		No	ClinGen gnomAD
rs781215525 CA3795295	828	I>F		No	ClinGen ExAC gnomAD
rs3008815 CA3795297	828	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1434409278 CA364036819	828	I>T		No	ClinGen TOPMed
rs780265739 CA137641300	829	A>P		No	ClinGen ExAC TOPMed gnomAD
CA3795298 rs780265739	829	A>T		No	ClinGen ExAC TOPMed gnomAD
rs768458774 CA3795300	830	D>E		No	ClinGen ExAC TOPMed gnomAD
CA364036825 rs1326283852	830	D>H		No	ClinGen gnomAD
CA364036836 rs1261494530	831	T>I		No	ClinGen gnomAD
CA3795301 rs774311764	834	S>I		No	ClinGen ExAC gnomAD
rs749112544 CA3795302	835	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1037104047 CA137641314	836	D>E		No	ClinGen gnomAD
CA3795304 COSM3941744 rs187381000	836	D>N	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA3795305 rs371609143	837	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA3795325 rs199666036	838	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs776047261 CA3795327	843	H>R		No	ClinGen ExAC gnomAD
CA3795328 rs759207407	846	I>T		No	ClinGen ExAC TOPMed gnomAD
CA364036946 rs1368338346	847	M>L		No	ClinGen TOPMed gnomAD
CA364036947 rs1368338346	847	M>V		No	ClinGen TOPMed gnomAD
CA137641424 rs1043945554	850	E>G		No	ClinGen TOPMed
rs1241723154 CA364037005	855	D>H		No	ClinGen gnomAD
rs1313398150 CA364037008	855	D>V		No	ClinGen gnomAD
CA364037006 rs1241723154	855	D>Y		No	ClinGen gnomAD
CA364037014 rs1359113895	856	I>F		No	ClinGen gnomAD
rs61748650 CA3795331	856	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA364037013 rs1359113895	856	I>V		No	ClinGen gnomAD
CA364037019 rs1479768434	857	L>V		No	ClinGen gnomAD
rs761116581 CA3795334	860	P>A		No	ClinGen ExAC TOPMed gnomAD
CA364037040 rs761116581	860	P>S		No	ClinGen ExAC TOPMed gnomAD
rs761116581 CA137641444	860	P>T		No	ClinGen ExAC TOPMed gnomAD
rs771483933 CA137641454	862	E>*		No	ClinGen TOPMed
CA364037051 rs771483933	862	E>K		No	ClinGen TOPMed
CA364037066 rs1419614813	864	Q>R		No	ClinGen gnomAD
CA3795335 rs766449073	865	H>R		No	ClinGen ExAC gnomAD
CA364037088 rs1383184633	867	P>L		No	ClinGen gnomAD
rs755211175 CA3795337	870	A>T		No	ClinGen ExAC TOPMed gnomAD
CA3795338 rs779341091	872	V>L		No	ClinGen ExAC gnomAD
CA364037147 rs1453925723	875	A>P		No	ClinGen gnomAD
CA364037174 rs1360251219	879	K>E		No	ClinGen gnomAD
CA3795352 rs766850227	879	K>T		No	ClinGen ExAC gnomAD
rs969435231 CA137642032	881	V>A		No	ClinGen TOPMed
rs759619689 CA3795354	881	V>M		No	ClinGen ExAC gnomAD
rs752932273 CA3795356	885	R>S		No	ClinGen ExAC
CA3795360 rs61748651	886	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs763930654 CA3795358	886	R>T		No	ClinGen ExAC gnomAD
rs535373875 CA137642043	887	G>R		No	ClinGen 1000Genomes
CA364037235 rs1157325327	889	R>K		No	ClinGen gnomAD
rs1239016275 CA364037242	890	A>T		No	ClinGen gnomAD
rs745831770 CA3795362	890	A>V		No	ClinGen ExAC TOPMed gnomAD
CA364037249 rs1262053295	891	V>A		No	ClinGen gnomAD
rs185163538 CA3795366	893	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA364037259 rs185163538	893	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs185163538 CA3795367	893	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368875201 CA3795381	896	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA364037288 rs930308488	896	E>K		No	ClinGen TOPMed gnomAD
CA137642520 rs930308488	896	E>Q		No	ClinGen TOPMed gnomAD
rs1438763556 CA364037309	898	Q>H		No	ClinGen gnomAD
COSM3430651 rs1047541318 CA137642525	900	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
COSM1079051 CA3795382 rs372205807	900	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA3795383 rs372205807	900	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs376671460 CA3795384	901	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA364037327 rs1232403641	902	V>I		No	ClinGen gnomAD
rs747846516 CA3795386	903	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs369693022 CA3795385	903	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA364037336 rs1490406489	904	E>K		No	ClinGen gnomAD
CA364037349 rs1223211966	905	P>L		No	ClinGen gnomAD
rs771147269 CA3795387	906	S>G		No	ClinGen ExAC gnomAD
rs1215782156 CA364037369	908	K>R		No	ClinGen gnomAD
rs777098135 CA3795388	909	F>L		No	ClinGen ExAC gnomAD
rs1382590156 CA364037376	909	F>S		No	ClinGen gnomAD
rs373101111 CA3795389	911	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA137642553 rs373101111	911	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1163322536 CA364037390	912	V>I		No	ClinGen gnomAD
rs770484009 CA3795390	913	M>I		No	ClinGen ExAC gnomAD
rs775710302 CA3795391	914	S>G		No	ClinGen ExAC TOPMed gnomAD
rs375047648 CA364037407	914	S>I		No	ClinGen ESP ExAC gnomAD
CA3795392 rs375047648	914	S>N		No	ClinGen ESP ExAC gnomAD
CA364037404 rs775710302	914	S>R		No	ClinGen ExAC TOPMed gnomAD
COSM1444412 CA3795394 rs774387987	915	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs58648266 CA137642581	917	I>F		No	ClinGen 1000Genomes ExAC gnomAD
rs58648266 CA3795395	917	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA3795396 rs369089603	918	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA364037450 rs1229617850	921	S>N		No	ClinGen gnomAD
CA3795399 rs766367751	923	S>C		No	ClinGen ExAC TOPMed gnomAD
CA3795400 rs753776207	925	S>F		No	ClinGen ExAC TOPMed gnomAD
CA364037481 rs753776207	925	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs755546323 CA137642599	926	E>*		No	ClinGen ExAC TOPMed gnomAD
CA3795402 rs755546323	926	E>K		No	ClinGen ExAC TOPMed gnomAD
CA364037502 rs1473906506	929	D>N		No	ClinGen gnomAD
CA137642602 rs893153262	930	Q>K		No	ClinGen Ensembl
rs201309255 CA137642611	932	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201309255 CA3795405	932	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3795406 rs746305195	933	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1402452599 CA364037537	934	A>P		No	ClinGen gnomAD
rs376080360 CA3795408	936	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1450272491 CA364037548	936	D>N		No	ClinGen TOPMed gnomAD
CA364037550 rs1450272491	936	D>Y		No	ClinGen TOPMed gnomAD
CA3795409 rs553908697	937	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs907995648 CA137643016	938	F>C		No	ClinGen TOPMed
CA364037581 rs778845214	939	A>P		No	ClinGen ExAC TOPMed gnomAD
CA3795431 rs778845214	939	A>T		No	ClinGen ExAC TOPMed gnomAD
CA3795432 rs141483786	939	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA3795433 rs772140170	943	M>R		No	ClinGen ExAC TOPMed gnomAD
CA3795435 rs773362757	945	F>L		No	ClinGen ExAC TOPMed gnomAD
CA137643025 rs375485290	946	G>E		No	ClinGen ESP TOPMed
rs555209855 CA3795436	946	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3795438 rs759382010	948	H>Q		No	ClinGen ExAC gnomAD
rs776462962 CA3795437	948	H>R		No	ClinGen ExAC TOPMed gnomAD
CA3795440 rs775297056	949	D>E		No	ClinGen ExAC gnomAD
rs1422559901 CA364037647	949	D>N		No	ClinGen TOPMed
CA3795441 rs761542705	950	S>N		No	ClinGen ExAC TOPMed gnomAD
CA364037673 rs1233687611	952	M>T		No	ClinGen gnomAD
CA137643039 rs763722131	953	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA3795442 rs763722131	953	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA3795444 rs368026649	955	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA3795443 rs751217536	955	D>N		No	ClinGen ExAC TOPMed gnomAD
CA364037702 rs1562069085	956	E>D		No	ClinGen Ensembl
CA3795446 rs370518716 COSM1739284	956	E>K	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1289931443 CA364037724	959	G>A		No	ClinGen TOPMed gnomAD
CA3795447 rs755434704	962	D>H		No	ClinGen ExAC gnomAD
CA3795448 rs568397719	963	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA364037774 rs1483463240	966	Q>H		No	ClinGen gnomAD
rs1275176005 CA364037771	966	Q>R		No	ClinGen gnomAD
CA3795451 rs777856703	972	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs758420782 CA3795450	972	R>W		No	ClinGen ExAC TOPMed gnomAD
rs747197112 CA3795452	973	Q>L		No	ClinGen ExAC gnomAD
CA364037832 rs1440131596	976	E>K		No	ClinGen gnomAD
CA364037843 rs1383067100	977	A>D		No	ClinGen gnomAD
rs1160219309 CA364037840	977	A>T		No	ClinGen gnomAD
CA364037848 rs367809972	978	M>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA137643056 rs1035322208	978	M>L		No	ClinGen TOPMed
CA3795454 rs367809972	978	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1399840839 CA364037869	981	R>K		No	ClinGen TOPMed
CA364037873 rs1392197720	981	R>S		No	ClinGen gnomAD
CA3795459 rs557127998	982	K>E		No	ClinGen 1000Genomes ExAC TOPMed
rs576963852 CA3795460	982	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3795462 rs768725580	985	E>K		No	ClinGen ExAC TOPMed gnomAD
CA3795463 rs371745527	986	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3795465 rs375987274	987	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA364037911 rs375987274	987	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA3795466 rs375987274	987	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs907964345 CA137643088	987	R>W		No	ClinGen TOPMed gnomAD
COSM1079053 rs750047168 CA3795468	988	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3795467 rs767345619	988	R>W		No	ClinGen ExAC TOPMed gnomAD
CA364037919 rs755311083	989	A>E		No	ClinGen ExAC TOPMed gnomAD
rs755311083 CA3795469	989	A>V		No	ClinGen ExAC TOPMed gnomAD
rs368619961 COSM158683 CA3795471	990	R>C	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs199589116 CA3795473	990	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3795472 rs199589116	990	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3795474 rs747162374	991	M>T		No	ClinGen ExAC TOPMed gnomAD
CA137643109 rs375075346	992	E>K		No	ClinGen ESP TOPMed
CA364037940 rs1460071261	993	A>T		No	ClinGen TOPMed gnomAD
CA364037944 rs1253362883	994	M>L		No	ClinGen gnomAD
rs757336302 CA3795475	994	M>T		No	ClinGen ExAC gnomAD
CA364037984 rs770560331	997	E>D		No	ClinGen ExAC gnomAD
rs1343748974 CA364037986	998	Q>K		No	ClinGen TOPMed gnomAD
COSM1621622 rs776274033 CA3795512	998	Q>R	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs750209981 CA137643263	999	R>K		No	ClinGen ExAC gnomAD
CA3795513 rs750209981	999	R>T		No	ClinGen ExAC gnomAD
CA137643265 rs570662014	1000	E>D		No	ClinGen 1000Genomes
rs373069609 CA3795515	1001	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3795516 rs762348565	1001	R>H		No	ClinGen ExAC gnomAD
CA364038007 rs762348565	1001	R>P		No	ClinGen ExAC gnomAD
rs200742380 CA137643279	1003	R>Q		No	ClinGen ESP gnomAD
rs767614224 CA3795518	1003	R>W		No	ClinGen ExAC TOPMed gnomAD
CA3795521 rs750528514	1004	W>R		No	ClinGen ExAC
CA3795523 rs376971162	1005	Q>R		No	ClinGen ESP ExAC
rs553394639 CA3795525	1006	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754770116 CA3795526	1006	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3795524 rs553394639	1006	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA364038047 rs748063271	1008	R>L		No	ClinGen ExAC TOPMed gnomAD
rs748063271 CA3795528	1008	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs573237647 CA3795527 COSM258932	1008	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs924301997 CA364038048	1009	K>E		No	ClinGen Ensembl
CA364038054 rs758314642	1009	K>N		No	ClinGen ExAC TOPMed gnomAD
rs924301997 CA137643327	1009	K>Q		No	ClinGen Ensembl
CA364038059 rs1582783758	1010	V>G		No	ClinGen Ensembl
rs1193383931 CA364038056	1010	V>L		No	ClinGen gnomAD
COSM451417 rs1467772869 CA364038061	1011	L>M	breast [Cosmic]	No	ClinGen cosmic curated TOPMed
rs777320989 CA3795530	1011	L>P		No	ClinGen ExAC gnomAD
rs1004058302 CA137643337	1015	S>N		No	ClinGen TOPMed
CA3795532 rs201932748	1016	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs768979206 CA3795535	1017	L>P		No	ClinGen ExAC
rs1428956884 CA364038110	1019	E>A		No	ClinGen TOPMed
rs953625962 CA364038143	1024	D>H		No	ClinGen TOPMed gnomAD
CA137643365 rs953625962	1024	D>N		No	ClinGen TOPMed gnomAD
CA364038146 rs1437150276	1024	D>V		No	ClinGen gnomAD
rs779578341 CA137643369	1027	V>A		No	ClinGen Ensembl
rs111950018 CA3795538	1028	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3795541 rs766588455	1031	R>C		No	ClinGen ExAC gnomAD
rs754072898 CA364038186	1031	R>H		No	ClinGen ExAC TOPMed gnomAD
rs754072898 CA3795542	1031	R>L		No	ClinGen ExAC TOPMed gnomAD
rs766588455 CA364038184	1031	R>S		No	ClinGen ExAC gnomAD
rs755288027 CA3795543	1033	G>A		No	ClinGen ExAC gnomAD
CA3795544 rs765098316	1034	E>K		No	ClinGen ExAC gnomAD
rs752595095 CA3795545	1035	V>L		No	ClinGen ExAC gnomAD
CA137643402 COSM1249645 rs947381243	1036	F>L	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1443034711 CA364038223	1037	D>E		No	ClinGen gnomAD
CA364038221 rs1240353306	1037	D>G		No	ClinGen TOPMed gnomAD
CA364038218 rs746993253	1037	D>H		No	ClinGen ExAC TOPMed gnomAD
CA3795549 rs746993253	1037	D>N		No	ClinGen ExAC TOPMed gnomAD
CA3795548 rs746993253	1037	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA3795550 rs780722066	1038	K>E		No	ClinGen ExAC TOPMed gnomAD
CA3795552 rs780142246	1041	C>R		No	ClinGen ExAC TOPMed gnomAD
rs748393695 CA3795554	1042	K>E		No	ClinGen ExAC gnomAD
rs1169642961 CA364038261	1043	L>F		No	ClinGen TOPMed
CA364038266 rs1462436473	1044	K>Q		No	ClinGen TOPMed
CA3795555 rs772498031	1045	R>C		No	ClinGen ExAC TOPMed gnomAD
CA3795556 rs773543535	1045	R>H		No	ClinGen ExAC TOPMed gnomAD
rs761275513 CA3795557	1046	S>N		No	ClinGen ExAC gnomAD
rs766531470 CA3795558	1047	R>C		No	ClinGen ExAC TOPMed gnomAD
CA3795559 rs369390268	1047	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766531470 CA137643439	1047	R>S		No	ClinGen ExAC TOPMed gnomAD
rs759817118 CA3795560	1049	R>*		No	ClinGen ExAC gnomAD
rs200618513 CA3795562	1049	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA3795561 rs200618513	1049	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1317856441 CA364038299	1050	S>P		No	ClinGen TOPMed gnomAD
CA364038306 rs1260428423	1051	G>R		No	ClinGen gnomAD
rs372144223 CA137643458	1052	S>N		No	ClinGen ESP gnomAD
rs374489793 CA137643464	1053	Q>*		No	ClinGen ESP
rs751425380 CA3795565	1053	Q>H		No	ClinGen ExAC gnomAD
rs185160084 CA3795566	1054	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780667144 CA3795567	1056	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA137643479 rs748773295	1056	E>V		No	ClinGen Ensembl
rs1171342762 CA364038343	1057	V>A		No	ClinGen gnomAD
CA364038349 rs1440409374	1058	T>S		No	ClinGen gnomAD
rs779623397 CA364038351	1059	R>G		No	ClinGen ExAC TOPMed gnomAD
CA3795571 rs370249895	1059	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3795570 rs779623397	1059	R>W		No	ClinGen ExAC TOPMed gnomAD
rs778238929 CA364038358	1060	E>G		No	ClinGen ExAC gnomAD
rs1450714195 CA364038355	1060	E>Q		No	ClinGen TOPMed
rs778238929 CA3795573	1060	E>V		No	ClinGen ExAC gnomAD
CA3795576 rs771620164	1061	R>L		No	ClinGen ExAC TOPMed gnomAD
rs771620164 CA3795575	1061	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs747447552 CA3795574	1061	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1279703363 CA364038377	1064	N>H		No	ClinGen gnomAD
CA3795579 rs369321854	1064	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs775538347 CA364038383	1065	R>G		No	ClinGen ExAC TOPMed gnomAD
CA137643529 rs1057201387	1065	R>Q		No	ClinGen TOPMed gnomAD
rs775538347 CA3795580 COSM122481	1065	R>W	upper_aerodigestive_tract large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1562070490 CA917730343	1067	N>T		No	ClinGen Ensembl
CA364038402 rs1478215603	1068	Y>F		No	ClinGen gnomAD
rs1582784442 CA364038412	1069	Y>C		No	ClinGen Ensembl

No associated diseases with Q86T65

No regional properties for Q86T65

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q86T65

Functions

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

1 GO annotations of cellular component

Name	Definition
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.

2 GO annotations of molecular function

Name	Definition
actin binding	Binding to monomeric or multimeric forms of actin, including actin filaments.
small GTPase binding	Binding to a small monomeric GTPase.

11 GO annotations of biological process

Name	Definition
actin cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
determination of left/right symmetry	The establishment of an organism's body plan or part of an organism with respect to the left and right halves. The pattern can either be symmetric, such that the halves are mirror images, or asymmetric where the pattern deviates from this symmetry.
dorsal spinal cord development	The process whose specific outcome is the progression of the dorsal region of the spinal cord over time, from its formation to the mature structure. The dorsal region of the mature spinal cord contains neurons that process and relay sensory input.
glomerular visceral epithelial cell migration	The orderly movement of a podocyte from one site to another, often during the development of a multicellular organism or multicellular structure. A podocyte is a specialized kidney epithelial cell.
negative regulation of oligodendrocyte differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of oligodendrocyte differentiation.
positive regulation of canonical Wnt signaling pathway	Any process that increases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes.
regulation of actin filament polymerization	Any process that modulates the frequency, rate or extent of the assembly of actin filaments by the addition of actin monomers to a filament.
regulation of canonical Wnt signaling pathway	Any process that modulates the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes.
regulation of filopodium assembly	Any process that modulates the frequency, rate or extent of the assembly of a filopodium, a thin, stiff protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal growth cone.
regulation of non-canonical Wnt signaling pathway	Any process that modulates the frequency, rate or extent of non-canonical Wnt signaling pathway.
Wnt signaling pathway	The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state.

12 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A0A1D5P556	DAAM2	Disheveled-associated activator of morphogenesis 2	Gallus gallus (Chicken)	SS
O95466	FMNL1	Formin-like protein 1	Homo sapiens (Human)	SS
Q27J81	INF2	Inverted formin-2	Homo sapiens (Human)	EV
Q9Y4D1	DAAM1	Disheveled-associated activator of morphogenesis 1	Homo sapiens (Human)	EV
Q0GNC1	Inf2	Inverted formin-2	Mus musculus (Mouse)	SS
Q0QWG9	Grid2ip	Delphilin	Mus musculus (Mouse)	PR
Q8BPM0	Daam1	Disheveled-associated activator of morphogenesis 1	Mus musculus (Mouse)	PR
Q80U19	Daam2	Disheveled-associated activator of morphogenesis 2	Mus musculus (Mouse)	SS
Q9C7S1	FH12	Formin-like protein 12	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LH02	FH17	Formin-like protein 17	Arabidopsis thaliana (Mouse-ear cress)	PR
P0C5K4	FH21A	Putative formin-like protein 21a	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FF14	FH19	Formin-like protein 19	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MAPRKRSHHG	LGFLCCFGGS	DIPEINLRDN	HPLQFMEFSS	PIPNAEELNI	RFAELVDELD
70	80	90	100	110	120
LTDKNREAMF	ALPPEKKWQI	YCSKKKEQED	PNKLATSWPD	YYIDRINSMA	AMQSLYAFDE
130	140	150	160	170	180
EETEMRNQVV	EDLKTALRTQ	PMRFVTRFIE	LEGLTCLLNF	LRSMDHATCE	SRIHTSLIGC
190	200	210	220	230	240
IKALMNNSQG	RAHVLAQPEA	ISTIAQSLRT	ENSKTKVAVL	EILGAVCLVP	GGHKKVLQAM
250	260	270	280	290	300
LHYQVYAAER	TRFQTLLNEL	DRSLGRYRDE	VNLKTAIMSF	INAVLNAGAG	EDNLEFRLHL
310	320	330	340	350	360
RYEFLMLGIQ	PVIDKLRQHE	NAILDKHLDF	FEMVRNEDDL	ELARRFDMVH	IDTKSASQMF
370	380	390	400	410	420
ELIHKKLKYT	EAYPCLLSVL	HHCLQMPYKR	NGGYFQQWQL	LDRILQQIVL	QDERGVDPDL
430	440	450	460	470	480
APLENFNVKN	IVNMLINENE	VKQWRDQAEK	FRKEHMELVS	RLERKERECE	TKTLEKEEMM
490	500	510	520	530	540
RTLNKMKDKL	ARESQELRQA	RGQVAELVAQ	LSELSTGPVS	SPPPPGGPLT	LSSSMTTNDL
550	560	570	580	590	600
PPPPPPLPFA	CCPPPPPPPL	PPGGPPTPPG	APPCLGMGLP	LPQDPYPSSD	VPLRKKRVPQ
610	620	630	640	650	660
PSHPLKSFNW	VKLNEERVPG	TVWNEIDDMQ	VFRILDLEDF	EKMFSAYQRH	QKELGSTEDI
670	680	690	700	710	720
YLASRKVKEL	SVIDGRRAQN	CIILLSKLKL	SNEEIRQAIL	KMDEQEDLAK	DMLEQLLKFI
730	740	750	760	770	780
PEKSDIDLLE	EHKHEIERMA	RADRFLYEMS	RIDHYQQRLQ	ALFFKKKFQE	RLAEAKPKVE
790	800	810	820	830	840
AILLASRELV	RSKRLRQMLE	VILAIGNFMN	KGQRGGAYGF	RVASLNKIAD	TKSSIDRNIS
850	860	870	880	890	900
LLHYLIMILE	KHFPDILNMP	SELQHLPEAA	KVNLAELEKE	VGNLRRGLRA	VEVELEYQRR
910	920	930	940	950	960
QVREPSDKFV	PVMSDFITVS	SFSFSELEDQ	LNEARDKFAK	ALMHFGEHDS	KMQPDEFFGI
970	980	990	1000	1010	1020
FDTFLQAFSE	ARQDLEAMRR	RKEEEERRAR	MEAMLKEQRE	RERWQRQRKV	LAAGSSLEEG
1030	1040	1050	1060
GEFDDLVSAL	RSGEVFDKDL	CKLKRSRKRS	GSQALEVTRE	RAINRLNY