AiPD: Autoinhibited Protein Database

Q12774

Gene name	ARHGEF5 (TIM)
Protein name	Rho guanine nucleotide exchange factor 5
Names	Ephexin-3, Guanine nucleotide regulatory protein TIM, Oncogene TIM, Transforming immortalized mammary oncogene, p60 TIM
Species	Homo sapiens (Human)
KEGG Pathway	hsa:7984
EC number
Protein Class	GUANINE NUCLEOTIDE EXCHANGE FACTOR (PTHR12845)

Descriptions

Dbl-related oncoproteins are guanine nucleotide exchange factors specific for Rho-family GTPases and typically possess tandem Dbl homology (DH) and pleckstrin homology (PH) domains that act in concert to catalyze exchange. The ability of many Dbl-family proteins to catalyze exchange is constitutively activated by truncations N-terminal to their DH domains. The Dbl-family protein Tim, called ARHGEF5, is autoinhibited by a short, helical motif immediately N-terminal to its DH domain, which directly occludes the catalytic surface of the DH domain to prevent GTPase activation.

Autoinhibitory domains (AIDs)

Target domain	1174-1358 (DH domain)
Relief mechanism	PTM
Assay	Deletion assay, Mutagenesis experiment

AID

1093-1100 (Autoinhibitory helix)

Target domain

1174-1358 (DH domain)

Relief mechanism

PTM (Phosphorylation of autoinhibitory helix)

Assay

Deletion assay, Mutagenesis experiment

Accessory elements

No accessory elements

References

Yohe ME et al. (2007) "Auto-inhibition of the Dbl family protein Tim by an N-terminal helical motif", The Journal of biological chemistry, 282, 13813-23

Autoinhibited structure

Activated structure

1 structures for Q12774

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q12774-F1	Predicted				AlphaFoldDB

1122 variants for Q12774

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1251445207 CA369688046	2	E>K		No	ClinGen gnomAD
CA369688063 rs1172840430	3	A>P		No	ClinGen gnomAD
rs754652633 CA369688075	4	E>*		No	ClinGen ExAC gnomAD
CA369688085 rs1455248697	4	E>D		No	ClinGen gnomAD
CA4543799 rs754652633	4	E>Q		No	ClinGen ExAC gnomAD
CA4543801 rs752466129	5	E>A		No	ClinGen ExAC TOPMed gnomAD
rs752466129 CA369688094	5	E>G		No	ClinGen ExAC TOPMed gnomAD
CA4543800 rs778575197	5	E>K		No	ClinGen ExAC
rs752466129 CA369688095	5	E>V		No	ClinGen ExAC TOPMed gnomAD
CA4543803 rs777700331	7	Q>*		No	ClinGen ExAC gnomAD
CA4543804 COSM297032 rs531993064	8	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs531993064 CA369688129	8	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4543805 rs769869975	9	G>A		No	ClinGen ExAC TOPMed gnomAD
rs766185415 CA4543798	10	A>?		No	ClinGen ExAC TOPMed
rs749423415 CA369688158	10	A>G		No	ClinGen ExAC gnomAD
CA4543806 rs373055911	10	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs749423415 CA4543807	10	A>V		No	ClinGen ExAC gnomAD
CA369688171 rs1319134785	11	S>C		No	ClinGen gnomAD
rs1420271552 CA369688177	12	P>S		No	ClinGen TOPMed
rs1237451356 CA369688189	13	P>A		No	ClinGen TOPMed gnomAD
rs1260662829 CA369688198	13	P>L		No	ClinGen gnomAD
CA369688191 rs1237451356	13	P>S		No	ClinGen TOPMed gnomAD
rs774773903 CA4543809	15	S>C		No	ClinGen ExAC gnomAD
rs762267776 CA4543810	16	A>S		No	ClinGen ExAC gnomAD
CA369688238 rs1468240171	17	I>L		No	ClinGen gnomAD
CA369688246 rs772324627	17	I>R		No	ClinGen ExAC TOPMed gnomAD
CA4543811 rs772324627	17	I>T		No	ClinGen ExAC TOPMed gnomAD
CA369688240 rs1468240171	17	I>V		No	ClinGen gnomAD
CA369688251 rs773707950	18	E>K		No	ClinGen ExAC TOPMed gnomAD
CA4543812 rs773707950	18	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs761104506 CA4543813	19	E>K		No	ClinGen ExAC TOPMed gnomAD
CA4543814 rs761104506	19	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1461495120 CA369688345	24	P>R		No	ClinGen gnomAD
CA4543817 rs142197156	26	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA369688376 rs1298412011	27	P>T		No	ClinGen gnomAD
COSM1086916 rs752412737 CA4543818	28	M>T	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs758132095 CA4543819	29	R>K		No	ClinGen ExAC TOPMed gnomAD
CA369688400 rs1307745152	29	R>S		No	ClinGen TOPMed
rs777452540 CA4543820	30	S>N		No	ClinGen ExAC TOPMed gnomAD
rs777452540 CA4543821	30	S>T		No	ClinGen ExAC TOPMed gnomAD
CA369688414 rs1271306954	31	S>R		No	ClinGen gnomAD
rs536431261 CA4543823	32	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA369688423 rs1253304641	33	V>I		No	ClinGen gnomAD
CA369688433 rs1193914727	34	S>C		No	ClinGen gnomAD
rs1481489108 CA369688429	34	S>T		No	ClinGen gnomAD
rs1475515230 CA369688435	35	A>P		No	ClinGen gnomAD
rs1368459504 CA369688440	35	A>V		No	ClinGen TOPMed
rs1190019576 CA369688447	36	L>F		No	ClinGen gnomAD
CA369688448 rs1299700900	37	G>R		No	ClinGen TOPMed
rs1474601476 CA369688460	39	E>K		No	ClinGen TOPMed gnomAD
rs1355977004 CA369688474	41	Q>E		No	ClinGen gnomAD
rs1183503945 CA369688490	43	D>N		No	ClinGen gnomAD
rs1233154407 CA369688495	43	D>V		No	ClinGen gnomAD
rs1328498957 CA369688516	46	P>S		No	ClinGen TOPMed
rs1460768689 CA369688530	48	Y>C		No	ClinGen TOPMed gnomAD
CA369688529 rs1460768689	48	Y>S		No	ClinGen TOPMed gnomAD
rs1298006006 CA369688537	49	K>T		No	ClinGen gnomAD
rs1376477153 CA369688545	50	W>*		No	ClinGen TOPMed gnomAD
rs1396969204 CA369688543	50	W>R		No	ClinGen TOPMed
rs1291996609 CA369688578	54	H>R		No	ClinGen gnomAD
rs1354830585 CA369688594	56	L>P		No	ClinGen gnomAD
CA369688600 rs1215311046	57	S>L		No	ClinGen gnomAD
CA369688603 rs1297975347	58	A>S		No	ClinGen gnomAD
CA4543824 rs781243394	63	E>A		No	ClinGen ExAC TOPMed gnomAD
rs1423452125 CA369688651	64	L>F		No	ClinGen TOPMed
CA369688654 rs1224922365	65	R>K		No	ClinGen gnomAD
CA369688660 rs1250507827	66	D>H		No	ClinGen TOPMed gnomAD
CA369688659 rs1250507827	66	D>N		No	ClinGen TOPMed gnomAD
CA369688664 rs1485889146	66	D>V		No	ClinGen gnomAD
CA369688661 rs1250507827	66	D>Y		No	ClinGen TOPMed gnomAD
rs1400493413 CA369688694	70	Y>F		No	ClinGen gnomAD
CA369688702 rs1212861965	71	A>V		No	ClinGen TOPMed gnomAD
CA369688719 rs1485055323	74	T>A		No	ClinGen gnomAD
CA168299233 COSM1330001 rs201930383	74	T>M	ovary [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA369688724 rs1421166905	75	M>V		No	ClinGen gnomAD
CA369688742 rs1233427577	77	S>C		No	ClinGen TOPMed
rs1426327133 CA369688748	78	F>S		No	ClinGen gnomAD
CA369688756 rs1169335369	79	P>R		No	ClinGen gnomAD
rs1396011885 CA369688776	82	G>R		No	ClinGen gnomAD
CA369688779 rs1436978856	82	G>V		No	ClinGen gnomAD
rs1375431517 CA369688791	84	A>V		No	ClinGen gnomAD
CA369688792 rs1431541127	85	D>N		No	ClinGen gnomAD
rs1587063345 CA369688826	89	N>K		No	ClinGen Ensembl
CA369688842 rs1408246248	91	E>D		No	ClinGen TOPMed
CA369688840 rs1279113418	91	E>V		No	ClinGen TOPMed
CA369688859 rs1290747234	94	V>L		No	ClinGen TOPMed gnomAD
rs1587063369 CA369688874	96	E>G		No	ClinGen Ensembl
CA369688870 rs1313591036	96	E>K		No	ClinGen TOPMed
rs1357915834 CA369688882	97	A>G		No	ClinGen TOPMed
CA369688879 rs1434226345	97	A>P		No	ClinGen TOPMed
CA369688885 rs1381814232	98	C>R		No	ClinGen gnomAD
rs1587063386 CA369688902	100	T>P		No	ClinGen Ensembl
CA369688911 rs1304459555	101	P>L		No	ClinGen gnomAD
CA4543826 rs548124751	104	W>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1311575237 CA369688955	107	V>A		No	ClinGen gnomAD
rs1278077453 CA369688951	107	V>I		No	ClinGen gnomAD
CA4543827 rs779214058	108	P>S		No	ClinGen ExAC TOPMed gnomAD
CA369689027 rs1243295576	114	R>*		No	ClinGen TOPMed gnomAD
CA4543829 rs772431038	114	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA369689036 rs1185511304	115	Q>*		No	ClinGen TOPMed gnomAD
rs1185511304 CA369689034	115	Q>E		No	ClinGen TOPMed gnomAD
CA369689040 rs1262415092	115	Q>R		No	ClinGen TOPMed
CA369689073 rs1253315848	118	T>A		No	ClinGen gnomAD
CA369689118 rs1255390988	122	P>S		No	ClinGen gnomAD
rs1216410259 CA369689125	123	E>K		No	ClinGen TOPMed
CA369689160 rs1197402225	125	W>*		No	ClinGen gnomAD
rs773476283 CA369689150	125	W>G		No	ClinGen ExAC TOPMed gnomAD
CA4543830 rs773476283	125	W>R		No	ClinGen ExAC TOPMed gnomAD
rs1172215654 CA369689169	126	A>S		No	ClinGen gnomAD
rs200095203 CA168299259	127	C>F		No	ClinGen Ensembl
CA369689200 rs1394972160	128	P>L		No	ClinGen TOPMed gnomAD
rs761138536 CA4543831	130	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1161937201 CA369689240	132	E>K		No	ClinGen gnomAD
rs1161937201 CA369689242	132	E>Q		No	ClinGen gnomAD
CA4543832 rs771318957	135	D>N		No	ClinGen ExAC
rs759040931 CA4543834	136	M>I		No	ClinGen ExAC gnomAD
CA4543833 rs777180360	136	M>T		No	ClinGen ExAC gnomAD
CA4543835 rs764729615	137	A>T		No	ClinGen ExAC TOPMed gnomAD
rs775076690 CA4543836	137	A>V		No	ClinGen ExAC TOPMed gnomAD
CA4543837 rs762625544	139	F>I		No	ClinGen ExAC gnomAD
CA4543838 rs763848826	140	S>T		No	ClinGen ExAC TOPMed
rs757137632 CA4543841	144	G>E		No	ClinGen ExAC
CA4543842 rs767354802	145	S>G		No	ClinGen ExAC TOPMed gnomAD
rs755047174 CA4543844	146	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1418102767 CA369689430	147	E>D		No	ClinGen TOPMed
rs1469565694 CA369689426	147	E>G		No	ClinGen gnomAD
rs779153091 CA4543845	147	E>Q		No	ClinGen ExAC gnomAD
rs748336977 CA4543846	149	E>D		No	ClinGen ExAC TOPMed gnomAD
CA369689446 rs1191390352	149	E>K		No	ClinGen gnomAD
rs1587063572 CA369689458	150	V>M		No	ClinGen Ensembl
CA369689471 rs1470724533	151	E>Q		No	ClinGen gnomAD
rs758513766 CA4543847	152	F>L		No	ClinGen ExAC gnomAD
CA4543848 rs778105671	153	W>*		No	ClinGen ExAC TOPMed gnomAD
rs1165803932 CA369689518	154	P>L		No	ClinGen TOPMed gnomAD
CA369689514 rs1400176820	154	P>S		No	ClinGen gnomAD
rs1186983932 CA369689568	159	L>*		No	ClinGen TOPMed
CA4543849 rs747320929	160	T>I		No	ClinGen ExAC TOPMed gnomAD
CA369689577 rs1325494350	160	T>P		No	ClinGen gnomAD
rs1325494350 CA369689580	160	T>S		No	ClinGen gnomAD
rs1371159864 CA369689599	161	L>F		No	ClinGen gnomAD
CA369689590 rs777053964	161	L>V		No	ClinGen ExAC TOPMed gnomAD
CA4543852 rs746398217	162	G>E		No	ClinGen ExAC gnomAD
CA369689610 rs1293321452	163	S>T		No	ClinGen gnomAD
CA4543854 rs774950036	164	G>*		No	ClinGen ExAC TOPMed gnomAD
rs774950036 CA369689621	164	G>R		No	ClinGen ExAC TOPMed gnomAD
CA4543855 rs762574861	165	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs762574861 CA369689631	165	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1438747819 CA369689639	165	Q>H		No	ClinGen gnomAD
rs762574861 CA369689628	165	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs201046507 CA4543857	166	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA4543856 rs201046507	166	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1563115612 CA369689650	166	A>V		No	ClinGen Ensembl
rs761451701 CA4543860	168	E>K		No	ClinGen ExAC gnomAD
CA4543863 rs756150091	169	E>A		No	ClinGen ExAC TOPMed
rs750334115 CA4543862	169	E>Q		No	ClinGen ExAC gnomAD
CA369689698 rs1474270033	170	E>A		No	ClinGen TOPMed gnomAD
rs766454819 CA4543864	172	T>I		No	ClinGen ExAC TOPMed gnomAD
CA369689728 rs766454819	172	T>N		No	ClinGen ExAC TOPMed gnomAD
CA369689741 rs1395674665	173	S>F		No	ClinGen TOPMed
CA4543865 rs752799463	174	S>*		No	ClinGen ExAC TOPMed gnomAD
rs752799463 CA4543866	174	S>L		No	ClinGen ExAC TOPMed gnomAD
rs62485525 CA4543867	175	D>G		No	ClinGen ExAC TOPMed gnomAD
rs567758966 CA4543868	177	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA168299398 rs535073192	178	G>D		No	ClinGen 1000Genomes
CA369689801 rs1352573266	179	Q>*		No	ClinGen gnomAD
CA369689804 rs1352573266	179	Q>K		No	ClinGen gnomAD
CA4543869 rs757504991	179	Q>R		No	ClinGen ExAC gnomAD
rs781569910 CA4543870	180	T>N		No	ClinGen ExAC gnomAD
CA369689824 rs746273665	181	R>I		No	ClinGen ExAC TOPMed gnomAD
rs746273665 CA4543871	181	R>T		No	ClinGen ExAC TOPMed gnomAD
rs1283222805 CA369689857	183	Y>*		No	ClinGen gnomAD
rs770265542 CA4543872	183	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs553514146 CA4543876	186	C>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4543874 COSM1548826 rs748745595	186	C>Y	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA4543877 rs578046612	187	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1186996002 CA369689917	188	E>D		No	ClinGen TOPMed gnomAD
CA369689914 rs1484726659	188	E>G		No	ClinGen gnomAD
CA369689907 rs1260316720	188	E>K		No	ClinGen gnomAD
CA369689933 rs1373831836	189	H>Q		No	ClinGen gnomAD
CA4543878 rs144636631 COSM106627	190	P>L	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1476489223 CA369689939	190	P>S		No	ClinGen gnomAD
CA4543879 rs773107523	191	A>T		No	ClinGen ExAC gnomAD
rs1209426616 CA369689972	193	T>A		No	ClinGen TOPMed
rs140292994 CA369689978	193	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4543880 rs140292994	193	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753878766 CA4543882	194	N>K		No	ClinGen ExAC gnomAD
rs762874471 CA369689996	195	Q>*		No	ClinGen ExAC gnomAD
rs762874471 CA4543883	195	Q>E		No	ClinGen ExAC gnomAD
CA4543885 rs751693606	196	N>S		No	ClinGen ExAC TOPMed gnomAD
CA4543886 rs757470664	197	E>*		No	ClinGen ExAC gnomAD
CA4543887 rs781443381	198	G>D		No	ClinGen ExAC TOPMed gnomAD
CA369690032 rs1341895151	198	G>S		No	ClinGen gnomAD
CA369690038 rs781443381	198	G>V		No	ClinGen ExAC TOPMed gnomAD
CA168299499 rs1208146	199	S>A		No	ClinGen TOPMed gnomAD
rs756540378 CA4543890	200	E>*		No	ClinGen ExAC TOPMed gnomAD
rs756540378 CA4543889	200	E>K		No	ClinGen ExAC TOPMed gnomAD
CA369690052 rs756540378	200	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1385493318 CA369690059	200	E>V		No	ClinGen TOPMed
rs1398156451 CA369690075	201	S>R		No	ClinGen TOPMed
CA4543893 rs749819876	202	G>A		No	ClinGen ExAC TOPMed gnomAD
CA4543892 rs749819876	202	G>E		No	ClinGen ExAC TOPMed gnomAD
CA369690079 rs1262455887	202	G>R		No	ClinGen TOPMed gnomAD
CA4543894 rs749819876	202	G>V		No	ClinGen ExAC TOPMed gnomAD
CA4543896 rs771824909	205	R>K		No	ClinGen ExAC gnomAD
CA369690113 rs1247712655	205	R>W		No	ClinGen gnomAD
CA4543897 rs115568093	206	Q>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4543898 rs760540425	206	Q>H		No	ClinGen ExAC gnomAD
rs115568093 CA369690124	206	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4543902 rs759538835	207	G>A		No	ClinGen ExAC gnomAD
rs759538835 CA369690141	207	G>E		No	ClinGen ExAC gnomAD
CA369690139 rs776373798	207	G>R		No	ClinGen ExAC gnomAD
CA4543900 rs776373798	207	G>R		No	ClinGen ExAC gnomAD
rs759538835 CA4543901	207	G>V		No	ClinGen ExAC gnomAD
rs751636255 COSM599677 CA4543903	208	E>K	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA369690157 rs761939610	209	E>*		No	ClinGen ExAC gnomAD
CA369690166 rs1196457535	209	E>D		No	ClinGen TOPMed
CA4543905 rs767725393	209	E>G		No	ClinGen ExAC gnomAD
CA4543904 rs761939610	209	E>K		No	ClinGen ExAC gnomAD
CA369690193 rs1229512523	212	P>R		No	ClinGen Ensembl
CA168299598 rs1208147	212	P>S		No	ClinGen 1000Genomes TOPMed gnomAD
rs554814755 CA4543907	213	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs573109259 CA4543908	214	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754256287 CA4543909	215	L>V		No	ClinGen ExAC gnomAD
rs779336120 CA4543911	217	E>Q		No	ClinGen ExAC gnomAD
rs1482734911 CA369690250	218	S>R		No	ClinGen TOPMed
COSM139742 CA369690287 rs1469103846	220	G>E	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA369690285 rs1267718580	220	G>R		No	ClinGen gnomAD
CA168299619 rs974738486	221	L>H		No	ClinGen TOPMed gnomAD
rs771773626 CA369690313	222	L>F		No	ClinGen ExAC gnomAD
CA4543915 rs777498554	223	H>L		No	ClinGen ExAC TOPMed gnomAD
CA4543914 rs777498554	223	H>P		No	ClinGen ExAC TOPMed gnomAD
CA369690321 rs1198074265	223	H>Y		No	ClinGen TOPMed gnomAD
rs776456561 CA4543917	224	P>L		No	ClinGen ExAC gnomAD
CA4543916 rs770800512	224	P>S		No	ClinGen ExAC gnomAD
CA4543919 rs769759551	225	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA4543918 rs745698513	225	Q>R		No	ClinGen ExAC gnomAD
CA369690358 rs1337970694	226	E>*		No	ClinGen TOPMed
CA4543921 rs761818562	226	E>A		No	ClinGen ExAC TOPMed gnomAD
rs761818562 CA369690359	226	E>G		No	ClinGen ExAC TOPMed gnomAD
rs761818562 CA369690360	226	E>V		No	ClinGen ExAC TOPMed gnomAD
rs767600667 CA4543922	227	V>A		No	ClinGen ExAC gnomAD
CA369690383 rs1408863607	228	Q>H		No	ClinGen TOPMed
CA369690378 rs1291797384	228	Q>K		No	ClinGen gnomAD
CA369690393 rs1308319457	229	V>D		No	ClinGen gnomAD
rs1368118808 CA369690391	229	V>L		No	ClinGen TOPMed
rs760921604 CA4543924	232	E>D		No	ClinGen ExAC gnomAD
rs766546532 CA4543925	234	G>A		No	ClinGen ExAC TOPMed gnomAD
CA4543928 rs539904703	235	Q>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4543927 rs539904703	235	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4543929 rs753259552	235	Q>R		No	ClinGen ExAC gnomAD
CA369690475 rs1470999644	236	Q>*		No	ClinGen TOPMed
CA369690486 rs1383821452	237	E>Q		No	ClinGen TOPMed gnomAD
CA4543931 rs777447262	239	G>E		No	ClinGen ExAC TOPMed gnomAD
CA4543930 rs757921894	239	G>R		No	ClinGen ExAC gnomAD
rs1251120536 CA369690521	240	F>L		No	ClinGen gnomAD
CA369690523 rs1420766743	240	F>Y		No	ClinGen gnomAD
rs756912388 CA168299764	241	R>P		No	ClinGen ExAC TOPMed gnomAD
CA4543933 rs756912388	241	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs564658226 CA4543932	241	R>W		No	ClinGen 1000Genomes ExAC TOPMed
rs780766134 CA4543934	242	G>R		No	ClinGen ExAC
rs769483422 CA4543936	243	E>*		No	ClinGen ExAC gnomAD
CA4543937 rs775443365 COSM1086918	243	E>G	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs749250615 CA4543938	244	G>E		No	ClinGen ExAC gnomAD
CA168299793 rs772103183	245	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1399117488 CA369690579	245	T>I		No	ClinGen gnomAD
rs772103183 CA4543939	245	T>S		No	ClinGen ExAC TOPMed gnomAD
rs924076034 CA168299800	246	L>P		No	ClinGen TOPMed
rs773241612 CA4543940	247	R>K		No	ClinGen ExAC gnomAD
rs1235279718 CA369690607	248	E>G		No	ClinGen gnomAD
CA369690600 rs1356172610	248	E>K		No	ClinGen gnomAD
rs1235279718 CA369690609	248	E>V		No	ClinGen gnomAD
CA369690631 rs1321395702	250	V>I		No	ClinGen gnomAD
CA369690646 rs1587064241	251	C>Y		No	ClinGen Ensembl
CA4543941 rs760788613	252	A>T		No	ClinGen ExAC TOPMed gnomAD
rs766608208 CA4543942	252	A>V		No	ClinGen ExAC gnomAD
CA369690661 rs759877308	253	D>H		No	ClinGen ExAC TOPMed gnomAD
rs759877308 CA4543944	253	D>N		No	ClinGen ExAC TOPMed gnomAD
CA369690667 rs1485703723	253	D>V		No	ClinGen gnomAD
rs1422838575 CA369690679	254	G>E		No	ClinGen gnomAD
CA4543946 rs753206420	254	G>R		No	ClinGen ExAC gnomAD
rs753206420 CA4543947	254	G>W		No	ClinGen ExAC gnomAD
rs1428297918 CA369690699	256	L>S		No	ClinGen gnomAD
rs756786375 CA4543950	257	G>A		No	ClinGen ExAC gnomAD
rs1209881223 CA369690707	257	G>R		No	ClinGen TOPMed gnomAD
CA4543951 rs780832034	258	E>K		No	ClinGen ExAC TOPMed gnomAD
CA4543953 rs755891405	260	Q>E		No	ClinGen ExAC gnomAD
CA369690765 rs1382937026	261	M>I		No	ClinGen gnomAD
CA4543954 rs779859314	262	I>T		No	ClinGen ExAC gnomAD
rs1332039056 CA369690782	263	E>Q		No	ClinGen TOPMed
CA369690811 rs1273796368	265	V>F		No	ClinGen TOPMed gnomAD
CA369690809 rs1273796368	265	V>L		No	ClinGen TOPMed gnomAD
rs749125896 CA4543957	266	N>D		No	ClinGen ExAC gnomAD
rs749125896 CA369690817	266	N>H		No	ClinGen ExAC gnomAD
rs1587064410 CA369690834	267	D>Y		No	ClinGen Ensembl
rs778875548 CA4543959	268	E>D		No	ClinGen ExAC gnomAD
rs1263481124 CA578627805	271	E>*		No	ClinGen gnomAD
CA369690890 rs1455486982	271	E>G		No	ClinGen TOPMed
CA369690887 rs1186738521	271	E>K		No	ClinGen gnomAD
rs1448024111 CA369690896	272	Q>K		No	ClinGen gnomAD
CA4543962 rs776853114	273	K>N		No	ClinGen ExAC gnomAD
rs1437075073 CA369690920	274	Q>K		No	ClinGen gnomAD
rs1174596408 CA369690926	274	Q>R		No	ClinGen gnomAD
rs770156059 CA4543964	276	Q>*		No	ClinGen ExAC gnomAD
CA4543965 rs775965703	276	Q>R		No	ClinGen ExAC gnomAD
CA369690965 rs1290837806	277	E>G		No	ClinGen gnomAD
CA369691012 rs1475537317	281	D>H		No	ClinGen TOPMed
CA369691032 rs1185997334	282	V>G		No	ClinGen TOPMed
rs752117175 CA4543968	283	M>T		No	ClinGen ExAC TOPMed gnomAD
CA369691053 rs1563116036	284	L>F		No	ClinGen Ensembl
rs1276500620 CA369691063	285	G>W		No	ClinGen gnomAD
rs1215949928 CA369691084	287	Q>*		No	ClinGen TOPMed gnomAD
rs750056524 CA4543971	287	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA4543972 rs755696354	288	G>R		No	ClinGen ExAC TOPMed gnomAD
CA369691105 rs1207742113	289	E>K		No	ClinGen gnomAD
rs1253963692 CA369691130	291	M>V		No	ClinGen gnomAD
rs531958904 CA4543973	292	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA369691142 rs1455862042	292	G>R		No	ClinGen TOPMed gnomAD
CA369691174 rs754832169	294	T>I		No	ClinGen ExAC gnomAD
CA369691166 rs1159813315	294	T>P		No	ClinGen TOPMed gnomAD
rs754832169 CA4543975	294	T>S		No	ClinGen ExAC gnomAD
CA369691178 rs1387729563	295	G>W		No	ClinGen TOPMed gnomAD
CA369691194 rs1161420817	296	E>A		No	ClinGen gnomAD
CA369691197 rs1386582424	296	E>D		No	ClinGen gnomAD
rs1432630300 CA369691227	299	G>C		No	ClinGen TOPMed
rs1394858869 CA369691245	301	N>H		No	ClinGen gnomAD
CA369691253 rs1396415630	302	D>N		No	ClinGen TOPMed
rs1272980091 CA369691268	303	G>S		No	ClinGen TOPMed gnomAD
rs1366874313 CA369691288	304	E>D		No	ClinGen TOPMed gnomAD
rs562791405 CA4543976	308	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1391323962 CA369691347	309	D>V		No	ClinGen TOPMed
CA369691356 rs1326478911	310	M>L		No	ClinGen gnomAD
CA168299930 rs199839310	313	K>Q		No	ClinGen Ensembl
rs748048106 CA369691417	315	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs748048106 CA4543977	315	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA369691428 rs1587064619	316	G>C		No	ClinGen Ensembl
CA4543978 rs770992370	316	G>D		No	ClinGen ExAC TOPMed gnomAD
CA369691435 rs1179484474	317	Q>E		No	ClinGen gnomAD
CA369691444 rs1587064636	318	G>R		No	ClinGen Ensembl
rs1450651673 CA369691459	319	G>S		No	ClinGen TOPMed
CA4543979 rs781161445	320	P>S		No	ClinGen ExAC gnomAD
CA369691500 rs1165908786	322	Q>H		No	ClinGen gnomAD
rs746000566 CA4543980	322	Q>R		No	ClinGen ExAC gnomAD
rs370056802 CA4543981	323	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1406848844 CA369691539	325	E>A		No	ClinGen gnomAD
rs548467752 CA168299965	325	E>Q		No	ClinGen 1000Genomes
rs566630896 CA168299977	326	R>G		No	ClinGen 1000Genomes TOPMed
rs1321295684 CA369691556	326	R>K		No	ClinGen gnomAD
CA4543982 rs775922753	327	K>R		No	ClinGen ExAC gnomAD
rs763344169 CA4543983	328	R>K		No	ClinGen ExAC TOPMed gnomAD
rs763344169 CA369691580	328	R>M		No	ClinGen ExAC TOPMed gnomAD
CA4543984 rs527499591	331	Q>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA369691640 rs1327624268	332	V>A		No	ClinGen gnomAD
CA369691645 COSM268706 rs1227303814	333	P>S	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA369691660 rs1293500055	334	E>*		No	ClinGen gnomAD
rs1226104770 CA369691672	335	E>*		No	ClinGen TOPMed
CA4543985 rs1226104770	335	E>K		No	ClinGen TOPMed
rs762261282 CA4543989	336	N>H		No	ClinGen ExAC gnomAD
CA4543988 rs762261282	336	N>Y		No	ClinGen ExAC gnomAD
rs1308458312 CA369691716	337	R>S		No	ClinGen TOPMed gnomAD
CA4543991 rs760286209	338	A>E		No	ClinGen ExAC TOPMed gnomAD
CA369691724 rs1207832161	338	A>S		No	ClinGen TOPMed gnomAD
CA4543992 rs760286209	338	A>V		No	ClinGen ExAC TOPMed gnomAD
rs754707612 CA4543994	339	D>A		No	ClinGen ExAC TOPMed gnomAD
rs778699749 CA4543995	341	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs752639110 CA369691789	342	D>E		No	ClinGen ExAC TOPMed gnomAD
rs777814769 CA4543998	343	E>G		No	ClinGen ExAC gnomAD
CA4543997 COSM1086921 rs758237036	343	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA369691816 rs745931326	344	K>M		No	ClinGen ExAC TOPMed gnomAD
rs745931326 CA4543999	344	K>R		No	ClinGen ExAC TOPMed gnomAD
rs368576717 CA4544000	345	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA369691828 rs368576717	345	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA369691838 rs1244614772	346	Q>K		No	ClinGen TOPMed
CA4544001 rs3823677	347	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA369691864 rs3823677	347	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4544002 rs749545961	350	G>R		No	ClinGen ExAC gnomAD
CA369691930 rs1283239137	352	S>*		No	ClinGen gnomAD
CA4544003 rs769105459	352	S>A		No	ClinGen ExAC gnomAD
CA369691934 rs1283239137	352	S>L		No	ClinGen gnomAD
rs547089301 CA4544004	354	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4544005 rs748599268	355	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1342024690 CA369691987	356	T>I		No	ClinGen gnomAD
CA4544006 rs145875251	357	G>R		No	ClinGen ExAC TOPMed gnomAD
CA4544008 rs760108081	358	K>N		No	ClinGen ExAC gnomAD
rs765884897 CA4544009	359	Q>R		No	ClinGen ExAC gnomAD
rs1242976713 CA369692102	364	I>T		No	ClinGen gnomAD
rs1300709881 CA369692093	364	I>V		No	ClinGen TOPMed gnomAD
CA369692120 rs1190314549	365	K>R		No	ClinGen gnomAD
CA4544011 rs571800036	366	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4544012 rs764909665	367	K>R		No	ClinGen ExAC TOPMed gnomAD
CA369692167 rs752411882	368	G>E		No	ClinGen ExAC TOPMed gnomAD
CA369692159 rs1371194902	368	G>R		No	ClinGen TOPMed
rs752411882 CA4544014	368	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1333079256 CA369692183	369	V>A		No	ClinGen gnomAD
rs1333079256 CA369692185	369	V>G		No	ClinGen gnomAD
CA4544015 rs200205335	372	S>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA369692228 rs1364943442	373	G>R		No	ClinGen TOPMed gnomAD
rs1364943442 CA369692226	373	G>R		No	ClinGen TOPMed gnomAD
CA369692250 rs1563116266	374	Q>L		No	ClinGen Ensembl
rs1423522248 CA369692272	376	A>T		No	ClinGen TOPMed
CA369692283 rs1342949112	376	A>V		No	ClinGen TOPMed gnomAD
rs1199996051 CA369692350	381	S>N		No	ClinGen gnomAD
rs763872305 CA4544017	383	D>G		No	ClinGen ExAC gnomAD
CA369692380 rs1486406025	383	D>N		No	ClinGen TOPMed
rs1256449573 CA369692413	385	G>D		No	ClinGen TOPMed
CA369692460 rs1466387550	389	A>T		No	ClinGen TOPMed gnomAD
CA369692482 rs1207080539	390	V>G		No	ClinGen gnomAD
rs1245900888 CA369692521	393	A>V		No	ClinGen TOPMed gnomAD
rs1199484256 CA369692582	397	E>A		No	ClinGen TOPMed gnomAD
rs1379359151 CA369692600	398	E>D		No	ClinGen gnomAD
CA369692647 rs1476738077	401	E>G		No	ClinGen gnomAD
rs1388762303 CA369692665	402	H>R		No	ClinGen TOPMed gnomAD
CA369692678 rs1458437202 COSM1086923	403	H>Y	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1388361841 CA369692710	405	P>L		No	ClinGen gnomAD
rs1442177734 CA369692728	407	M>V		No	ClinGen gnomAD
rs1326089036 CA369692745	408	P>S		No	ClinGen gnomAD
CA369692757 rs751529421	409	A>S		No	ClinGen ExAC TOPMed gnomAD
rs751529421 CA4544018	409	A>T		No	ClinGen ExAC TOPMed gnomAD
rs756215695 CA4544019	410	L>V		No	ClinGen ExAC gnomAD
CA369692799 rs1357450572	412	A>V		No	ClinGen TOPMed
CA369692810 rs1331333699	414	E>K		No	ClinGen gnomAD
CA4544020 rs780314058	416	S>C		No	ClinGen ExAC gnomAD
CA369692881 rs1464262600	418	H>L		No	ClinGen TOPMed gnomAD
rs539009977 CA4544022	420	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs539009977 CA369692893	420	D>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs779257628 CA4544023	422	F>S		No	ClinGen ExAC TOPMed gnomAD
rs772486128 CA4544025	423	P>L		No	ClinGen ExAC gnomAD
rs1198095218 CA369692913	423	P>S		No	ClinGen gnomAD
CA4544026 rs773531366	424	G>C		No	ClinGen ExAC gnomAD
rs557118956 CA4544027	424	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770386290 CA4544028	426	S>L		No	ClinGen ExAC gnomAD
rs1156516036 CA369692938	427	Y>*		No	ClinGen TOPMed
CA4544029 rs776086930	428	L>I		No	ClinGen ExAC TOPMed gnomAD
CA369692939 rs776086930	428	L>V		No	ClinGen ExAC TOPMed gnomAD
CA369692949 rs1352404836	429	M>I		No	ClinGen TOPMed gnomAD
rs1208149 CA369692944	429	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4544030 rs1208149	429	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA369692962 rs1481487091	431	Q>R		No	ClinGen TOPMed gnomAD
CA4544031 rs764784031	433	P>T		No	ClinGen ExAC gnomAD
CA4544033 rs762598201	434	G>R		No	ClinGen ExAC TOPMed gnomAD
CA4544035 rs751415128	438	E>D		No	ClinGen ExAC gnomAD
rs1323527943 CA369693016	438	E>V		No	ClinGen TOPMed
CA4544036 rs761814096	440	R>T		No	ClinGen ExAC gnomAD
rs1250461608 CA369693050	441	A>T		No	ClinGen gnomAD
rs1166485499 CA369693069	442	E>G		No	ClinGen gnomAD
CA369693061 rs1423977070	442	E>K		No	ClinGen gnomAD
CA4544038 rs753958079	443	E>*		No	ClinGen ExAC gnomAD
rs1169770329 CA369693109	445	S>F		No	ClinGen TOPMed gnomAD
rs1169770329 CA369693106	445	S>Y		No	ClinGen TOPMed gnomAD
CA369693119 rs1372999078	446	P>R		No	ClinGen gnomAD
rs1307445012 CA369693129	447	A>T		No	ClinGen TOPMed gnomAD
rs778931335 CA4544040	449	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1397935427 CA369693152	449	L>V		No	ClinGen gnomAD
rs1245033352 CA369693164	450	S>T		No	ClinGen gnomAD
CA369693175 rs1275222272	451	P>S		No	ClinGen gnomAD
rs142720995 CA369693193	452	S>*		No	ClinGen ExAC TOPMed gnomAD
CA4544042 rs142720995	452	S>L		No	ClinGen ExAC TOPMed gnomAD
CA369693218 rs771404247	454	E>D		No	ClinGen ExAC TOPMed gnomAD
rs771404247 CA4544045	454	E>D		No	ClinGen ExAC TOPMed gnomAD
CA369693222 rs745317936	455	P>S		No	ClinGen ExAC TOPMed
rs745317936 CA4544047	455	P>T		No	ClinGen ExAC TOPMed
CA369693244 rs1253715932	456	I>M		No	ClinGen TOPMed gnomAD
CA369693233 rs1421601794	456	I>V		No	ClinGen TOPMed
rs1423578342 CA369693256	457	R>S		No	ClinGen TOPMed gnomAD
CA369693292 rs1189657751	460	H>Y		No	ClinGen gnomAD
CA369693308 rs1392452390	461	Q>*		No	ClinGen gnomAD
rs554856476 CA4544048	461	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
CA4544049 rs774958898	462	P>L		No	ClinGen ExAC gnomAD
CA4544050 rs762699797	463	I>V		No	ClinGen ExAC TOPMed gnomAD
CA4544051 rs768236243	464	S>F		No	ClinGen ExAC gnomAD
rs1245986109 CA369693360	465	L>V		No	ClinGen TOPMed
rs1207013224 CA369693392	468	S>P		No	ClinGen TOPMed
rs1207013224 CA369693390	468	S>T		No	ClinGen TOPMed
CA369693469 rs1244156175	474	S>L		No	ClinGen TOPMed
CA4544053 rs573070810	477	K>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA369693536 rs1367115659	479	I>V		No	ClinGen gnomAD
CA369693563 rs1563116522	481	Q>K		No	ClinGen Ensembl
CA4544054 rs200716588	481	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1312252893 CA369693589	482	N>S		No	ClinGen gnomAD
rs1587065393 CA369693635	485	Q>H		No	ClinGen Ensembl
rs1253854698 CA369693631	485	Q>R		No	ClinGen gnomAD
CA369693660 rs1209412	487	E>A		No	ClinGen ExAC TOPMed gnomAD
CA4544056 rs1209412	487	E>G		No	ClinGen ExAC TOPMed gnomAD
CA369693662 rs1209412	487	E>V		No	ClinGen ExAC TOPMed gnomAD
CA4544057 rs765377937	492	K>R		No	ClinGen ExAC gnomAD
CA369693754 rs1443628226	494	T>I		No	ClinGen TOPMed
CA4544058 rs752820457	502	V>L		No	ClinGen ExAC TOPMed gnomAD
CA369693948 rs1188468858	505	A>S		No	ClinGen gnomAD
rs1426542077 CA369693979	506	S>N		No	ClinGen TOPMed gnomAD
rs1377158186 CA369694048	510	T>I		No	ClinGen TOPMed gnomAD
rs1587065436 CA369694041	510	T>P		No	ClinGen Ensembl
rs886235524 CA168300443	514	T>A		No	ClinGen TOPMed
rs1457917693 CA369694131	515	P>A		No	ClinGen gnomAD
rs1322815901 CA369694191	519	P>L		No	ClinGen gnomAD
CA4544061 rs540452416	520	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4544062 rs751909290	520	P>L		No	ClinGen ExAC gnomAD
rs1288195458 CA369694209	521	S>C		No	ClinGen TOPMed gnomAD
rs1368268699 CA369694286	526	Y>*		No	ClinGen gnomAD
CA369694306 rs1298496477	528	I>F		No	ClinGen gnomAD
rs1228615530 CA369694350	532	S>L		No	ClinGen TOPMed gnomAD
CA369694394 rs1215570327	537	P>S		No	ClinGen gnomAD
CA369694391 rs1215570327	537	P>T		No	ClinGen gnomAD
rs1489723083 CA369694455	542	P>S		No	ClinGen TOPMed gnomAD
CA369694488 rs1587065558	546	T>P		No	ClinGen Ensembl
rs1410096669 CA369694530	551	R>C		No	ClinGen gnomAD
rs199822092 CA4544065	551	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1410096669 CA369694527	551	R>S		No	ClinGen gnomAD
rs1350276428 CA369694558	553	P>L		No	ClinGen TOPMed gnomAD
CA369694552 rs1158053984	553	P>S		No	ClinGen gnomAD
rs1158053984 CA369694548	553	P>T		No	ClinGen gnomAD
CA369694584 rs1438439468	555	T>N		No	ClinGen gnomAD
rs769144177 CA4544066	556	A>T		No	ClinGen ExAC gnomAD
rs1344303885 CA369694624	559	P>S		No	ClinGen gnomAD
CA168300481 rs576904383	568	C>G		No	ClinGen 1000Genomes gnomAD
CA369694819 rs1222869902	574	C>F		No	ClinGen gnomAD
rs201540510 CA369694830	575	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201540510 CA4544067	575	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1357106368 CA369694869	579	Y>C		No	ClinGen TOPMed gnomAD
CA168300515 rs201664716	580	G>C		No	ClinGen 1000Genomes TOPMed gnomAD
rs1368628617 CA369694903	582	P>A		No	ClinGen TOPMed
rs1184490838 CA369694956	586	T>I		No	ClinGen TOPMed gnomAD
rs1184490838 CA369694954	586	T>N		No	ClinGen TOPMed gnomAD
CA369694989 rs1472359558	589	P>L		No	ClinGen TOPMed gnomAD
CA369694980 rs1249756696	589	P>S		No	ClinGen TOPMed gnomAD
CA369694995 rs1414248430	590	R>W		No	ClinGen gnomAD
CA369695088 rs1364924466	597	G>V		No	ClinGen gnomAD
CA369695110 rs1348096872	599	V>G		No	ClinGen gnomAD
rs1309261503 CA369695101	599	V>I		No	ClinGen TOPMed gnomAD
rs1440941323 CA369695159	603	R>W		No	ClinGen TOPMed gnomAD
rs1381784620 CA369695168	604	S>R		No	ClinGen TOPMed gnomAD
CA369695333 rs1227015582	615	Q>H		No	ClinGen TOPMed gnomAD
CA369695404 rs1343452490	621	G>E		No	ClinGen TOPMed gnomAD
CA369695435 rs1434908772	623	L>W		No	ClinGen gnomAD
CA369695595 rs1272498538	635	P>L		No	ClinGen gnomAD
CA369695724 rs1437383010	645	T>A		No	ClinGen gnomAD
CA369695735 rs1211070594	646	P>A		No	ClinGen gnomAD
CA369695907 rs1239480444	659	V>I		No	ClinGen gnomAD
rs1384400888 CA369696029	671	Q>E		No	ClinGen gnomAD
rs1170414671 CA369696119	677	I>S		No	ClinGen gnomAD
rs1346093766 CA369696159	681	E>K		No	ClinGen TOPMed
rs1368162697 CA369696257	688	S>I		No	ClinGen gnomAD
CA369696296 rs1334380773	691	P>S		No	ClinGen gnomAD
rs1255804774 CA369696347	695	P>R		No	ClinGen TOPMed
CA369696475 rs1366395134	706	A>T		No	ClinGen gnomAD
CA369696493 rs1231172629	707	Y>C		No	ClinGen TOPMed gnomAD
CA369696504 rs1338800907	708	G>S		No	ClinGen gnomAD
rs1201147320 CA369696573	714	V>A		No	ClinGen gnomAD
CA369696580 rs1408616891	715	S>F		No	ClinGen TOPMed
CA369696618 rs1440857495	720	R>S		No	ClinGen gnomAD
rs1280860419 CA369696615	720	R>T		No	ClinGen gnomAD
CA369696634 rs1465236766	723	E>K		No	ClinGen TOPMed gnomAD
CA369696643 rs1190422922	724	P>S		No	ClinGen TOPMed gnomAD
rs1371317630 CA369696651	725	L>P		No	ClinGen gnomAD
rs1587065867 CA369696660	727	P>A		No	ClinGen Ensembl
CA369696659 rs1587065867	727	P>T		No	ClinGen Ensembl
rs1401454438 CA369696667	728	P>S		No	ClinGen TOPMed
rs1172616084 CA369696676	729	P>R		No	ClinGen TOPMed gnomAD
rs1474778624 CA369696673	729	P>T		No	ClinGen gnomAD
CA369696681 rs1467850870	730	P>R		No	ClinGen gnomAD
CA369696677 rs1426694505	730	P>T		No	ClinGen gnomAD
rs1389824553 CA369696691	732	R>G		No	ClinGen gnomAD
CA369696705 rs1319090856	734	D>N		No	ClinGen TOPMed gnomAD
CA369696741 rs1234629374	739	V>M		No	ClinGen TOPMed gnomAD
rs1436864651 CA369696758	741	E>D		No	ClinGen TOPMed
CA369696751 rs1276628216	741	E>K		No	ClinGen TOPMed gnomAD
CA369696790 rs1256130327	746	A>D		No	ClinGen TOPMed
rs1256130327 CA369696792	746	A>V		No	ClinGen TOPMed
CA369696794 rs1342962176	747	R>G		No	ClinGen TOPMed gnomAD
rs1223126965 CA369696796	747	R>H		No	ClinGen TOPMed gnomAD
rs1329582431 CA369696807	749	V>L		No	ClinGen TOPMed gnomAD
CA369696813 rs1210404265	750	V>I		No	ClinGen gnomAD
rs1259440327 CA369696828	752	T>M		No	ClinGen TOPMed gnomAD
rs1244941204 CA369696902	763	A>D		No	ClinGen TOPMed
rs1332196209 CA369696945	770	A>G		No	ClinGen TOPMed
rs1361782796 CA369696941	770	A>T		No	ClinGen gnomAD
CA369696954 rs1479209535	772	H>D		No	ClinGen gnomAD
rs1479209535 CA369696955	772	H>Y		No	ClinGen gnomAD
CA369696962 rs1389126282	773	K>E		No	ClinGen TOPMed
rs1175235159 CA369696965	773	K>R		No	ClinGen gnomAD
rs1406113676 CA369696977	775	P>S		No	ClinGen TOPMed
CA369697001 rs1157142109	779	A>T		No	ClinGen gnomAD
rs1165055822 CA369697006	779	A>V		No	ClinGen TOPMed
rs1554442176 CA369697015	781	D>Y		No	ClinGen Ensembl
CA369697021 rs1473200054	782	P>T		No	ClinGen TOPMed
CA4544071 rs761638420	783	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1466490327 CA369697032	784	V>M		No	ClinGen TOPMed
CA369697068 rs1326187324	789	R>*		No	ClinGen TOPMed gnomAD
CA369697069 rs1329408532	789	R>Q		No	ClinGen TOPMed gnomAD
CA369697093 rs772010530	793	S>C		No	ClinGen ExAC TOPMed gnomAD
rs772010530 CA4544072	793	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1355049772 CA369697104	795	P>L		No	ClinGen TOPMed
CA369697102 rs1209903065	795	P>S		No	ClinGen TOPMed
rs773238192 CA4544073	800	H>N		No	ClinGen ExAC
rs1587066170 CA369697153	802	Q>R		No	ClinGen Ensembl
CA369697168 rs1365613419	804	T>I		No	ClinGen TOPMed
CA369697203 rs1226821968	809	Y>*		No	ClinGen gnomAD
rs760701477 CA4544074	809	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA369697199 rs760701477	809	Y>N		No	ClinGen ExAC TOPMed gnomAD
rs1258678900 CA369697226	812	P>L		No	ClinGen TOPMed gnomAD
CA4544076 rs775619321	814	P>L		No	ClinGen ExAC TOPMed gnomAD
CA4544075 rs766270002	814	P>S		No	ClinGen ExAC TOPMed gnomAD
CA4544077 rs200366203	815	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1198015461 CA369697243	816	T>A		No	ClinGen gnomAD
CA369697261 rs1251933403	819	L>M		No	ClinGen gnomAD
rs1473333740 CA369697273	820	P>L		No	ClinGen TOPMed gnomAD
rs1188307585 CA369697274	821	Q>K		No	ClinGen TOPMed
rs751793068 CA4544079	822	P>S		No	ClinGen ExAC
CA4544080 rs757567811	823	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1412421161 CA369697332	825	P>S		No	ClinGen TOPMed gnomAD
rs1165490127 CA369697351	827	I>V		No	ClinGen gnomAD
CA369697369 rs1364300830	828	S>A		No	ClinGen gnomAD
rs1424623596 CA369697397	830	P>S		No	ClinGen gnomAD
CA369697433 rs1352424311	832	S>R		No	ClinGen gnomAD
CA369697515 rs1389825240	836	Y>C		No	ClinGen gnomAD
CA369697575 rs1334935155	838	P>L		No	ClinGen gnomAD
CA168300589 rs1004721183	839	L>V		No	ClinGen TOPMed gnomAD
CA369697598 rs1285764539	840	P>T		No	ClinGen gnomAD
rs756619072 CA369697635	841	P>L		No	ClinGen ExAC
rs756619072 CA4544083	841	P>Q		No	ClinGen ExAC
CA4544084 rs756619072	841	P>R		No	ClinGen ExAC
CA369697678 rs1483786293	843	P>L		No	ClinGen gnomAD
rs1249446452 CA369697702	844	I>M		No	ClinGen gnomAD
rs1193699643 CA369697684	844	I>V		No	ClinGen TOPMed gnomAD
rs1369481942 CA369697712	845	I>L		No	ClinGen TOPMed
CA4544085 rs748823888	845	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1383805895 CA369697747	846	D>A		No	ClinGen gnomAD
CA4544086 rs754446701	846	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1383805895 CA369697751	846	D>G		No	ClinGen gnomAD
rs1190008185 CA369697735	846	D>H		No	ClinGen gnomAD
rs778654345 CA4544087	847	P>L		No	ClinGen ExAC gnomAD
CA369697825 rs1372483218	849	T>I		No	ClinGen TOPMed gnomAD
rs1372483218 CA369697821	849	T>S		No	ClinGen TOPMed gnomAD
CA4544089 rs368131997 COSM3411751	850	E>K	central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1342667319 CA369697861	851	P>A		No	ClinGen gnomAD
rs773113320 CA4544090	851	P>L		No	ClinGen ExAC TOPMed gnomAD
CA369697867 rs773113320	851	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs773113320 CA369697869	851	P>R		No	ClinGen ExAC TOPMed gnomAD
CA4544092 rs770889886	852	P>L		No	ClinGen ExAC
CA4544091 rs746830239	852	P>S		No	ClinGen ExAC gnomAD
CA369697874 rs746830239	852	P>T		No	ClinGen ExAC gnomAD
CA369697919 rs763023180	854	L>F		No	ClinGen ExAC TOPMed gnomAD
CA4544094 rs763023180	854	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1224666335 CA369697931	855	P>L		No	ClinGen gnomAD
CA369697922 rs1343647768	855	P>S		No	ClinGen gnomAD
rs1483347147 CA369697949	856	P>L		No	ClinGen gnomAD
rs1250302583 CA369697939	856	P>S		No	ClinGen gnomAD
rs1427726859 CA369697956	857	K>Q		No	ClinGen TOPMed
CA369697998 rs1191376470	859	R>G		No	ClinGen TOPMed
rs774516378 CA4544097	859	R>S		No	ClinGen ExAC TOPMed gnomAD
rs774516378 CA4544096	859	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1354332344 CA369698032	860	G>E		No	ClinGen gnomAD
rs562392019 CA4544098	861	R>K		No	ClinGen 1000Genomes ExAC gnomAD
rs750784649 CA4544099	862	S>I		No	ClinGen ExAC gnomAD
rs750784649 CA369698084	862	S>N		No	ClinGen ExAC gnomAD
rs1587066592 CA369698110	863	R>K		No	ClinGen Ensembl
rs756498953 COSM1471931 CA4544100	864	S>N	prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs754309817 CA4544102	865	T>I		No	ClinGen ExAC gnomAD
rs754309817 CA369698177	865	T>S		No	ClinGen ExAC gnomAD
CA4544103 COSM1319012 rs754492219	866	R>Q	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs529682237 CA4544106	868	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4544105 rs144839349	868	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA4544109 rs746816708	869	H>R		No	ClinGen ExAC TOPMed gnomAD
CA4544108 rs777627265	869	H>Y		No	ClinGen ExAC
rs541791450 CA4544112	870	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1323251257 CA369698309	870	M>K		No	ClinGen gnomAD
CA4544111 rs770636271	870	M>L		No	ClinGen ExAC gnomAD
rs1323251257 CA369698323	870	M>R		No	ClinGen gnomAD
rs770636271 CA369698303	870	M>V		No	ClinGen ExAC gnomAD
rs745822937 CA4544113	872	S>A		No	ClinGen ExAC TOPMed gnomAD
rs1554442226 CA4544114	872	S>L		No	ClinGen Ensembl
rs745822937 CA369698375	872	S>P		No	ClinGen ExAC TOPMed gnomAD
CA369698413 rs1485145860	873	G>E		No	ClinGen gnomAD
CA4544119 rs761935499	874	G>C		No	ClinGen ExAC TOPMed gnomAD
CA4544118 rs761935499	874	G>R		No	ClinGen ExAC TOPMed gnomAD
CA369698430 rs761935499 COSM421558	874	G>S	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs560459962 CA4544120	874	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA369698462 rs1428903167	876	A>D		No	ClinGen gnomAD
rs761038399 CA4544121	878	T>R		No	ClinGen ExAC gnomAD
rs867357858 CA369698547	880	P>H		No	ClinGen TOPMed
rs867357858 CA168300850	880	P>L		No	ClinGen TOPMed
rs754333806 CA4544124	880	P>S		No	ClinGen ExAC TOPMed gnomAD
rs754333806 CA4544123	880	P>T		No	ClinGen ExAC TOPMed gnomAD
rs765896647 CA4544125	881	A>P		No	ClinGen ExAC TOPMed gnomAD
CA369698563 rs1472604918	881	A>V		No	ClinGen TOPMed
rs1288287519 CA369698588	882	C>S		No	ClinGen gnomAD
rs1250466035 CA369698603	883	Q>*		No	ClinGen TOPMed
rs752243759 CA4544127	883	Q>R		No	ClinGen ExAC gnomAD
CA4544130 rs751186169	885	W>*		No	ClinGen ExAC gnomAD
rs1333930077 CA369698661	885	W>*		No	ClinGen gnomAD
CA369698652 rs751186169	885	W>L		No	ClinGen ExAC gnomAD
rs148175104 CA4544129	885	W>R		No	ClinGen ExAC TOPMed gnomAD
CA369698675 rs1484180962	886	T>I		No	ClinGen TOPMed
rs1338867270 CA369698682	887	V>F		No	ClinGen gnomAD
CA369698708 rs1215683394	888	P>L		No	ClinGen gnomAD
rs1215683394 CA369698706	888	P>R		No	ClinGen gnomAD
CA369698695 rs1315573588	888	P>S		No	ClinGen gnomAD
CA369698724 rs1266591904	889	L>P		No	ClinGen gnomAD
CA369698774 rs1411925380	893	A>S		No	ClinGen gnomAD
rs527503480 CA4544132	894	G>V		No	ClinGen 1000Genomes ExAC gnomAD
CA4544133 rs200251763	895	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM205524 rs769704083 CA4544134	895	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1261428908 CA369698849	897	S>F		No	ClinGen TOPMed
rs748156300 CA4544136	898	W>*		No	ClinGen ExAC
rs1266228725 CA369698857	898	W>R		No	ClinGen gnomAD
rs201767221 CA168300919	899	P>S		No	ClinGen Ensembl
rs772149986 CA4544137	900	P>L		No	ClinGen ExAC TOPMed gnomAD
CA369698929 rs1158261811	902	T>A		No	ClinGen gnomAD
rs1350441894 CA369698965	904	R>G		No	ClinGen gnomAD
rs1426497379 CA369698968	904	R>K		No	ClinGen TOPMed gnomAD
rs1300679274 CA369698983	905	S>P		No	ClinGen gnomAD
rs1410049913 CA369699031	908	S>T		No	ClinGen TOPMed gnomAD
CA369699038 rs1206886749	908	S>Y		No	ClinGen gnomAD
rs1280984270 CA369699064	910	T>A		No	ClinGen TOPMed gnomAD
rs1223618586 CA369699129	914	R>G		No	ClinGen gnomAD
rs1313919360 CA369699191	917	S>N		No	ClinGen TOPMed gnomAD
CA4544142 rs776839751	918	E>K		No	ClinGen ExAC TOPMed gnomAD
CA4544143 rs760037554	921	P>S		No	ClinGen ExAC gnomAD
CA369699245 rs1483463780	922	G>S		No	ClinGen gnomAD
CA369699324 rs753261583	926	S>R		No	ClinGen ExAC TOPMed gnomAD
rs765835923 CA4544144	926	S>T		No	ClinGen ExAC
rs1176373370 CA369699363	928	M>I		No	ClinGen gnomAD
CA4544146 rs762494803	928	M>T		No	ClinGen ExAC gnomAD
rs1181218748 CA369699371	929	T>A		No	ClinGen TOPMed
rs1442499351 CA369699421	932	L>V		No	ClinGen TOPMed
rs1249700179 CA369699440	933	C>Y		No	ClinGen TOPMed
rs1209169395 CA369699457	934	P>S		No	ClinGen TOPMed
rs1414273287 CA369699484	936	S>P		No	ClinGen gnomAD
CA369699514 rs1465498087	938	T>A		No	ClinGen TOPMed
rs571775862 CA4544148	943	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA369699632 rs1429886019	945	L>F		No	ClinGen TOPMed gnomAD
CA369699638 rs1330430777	945	L>P		No	ClinGen gnomAD
rs1313991450 CA369699694	948	P>L		No	ClinGen TOPMed
rs532451324 CA369699685	948	P>S		No	ClinGen 1000Genomes gnomAD
rs532451324 CA168301034	948	P>T		No	ClinGen 1000Genomes gnomAD
rs1245927842 CA369699711	949	T>I		No	ClinGen TOPMed
rs1381272828 CA369699740	951	K>E		No	ClinGen TOPMed
rs1300239142 CA369699765	952	D>V		No	ClinGen TOPMed
CA369699792 rs1436351477	954	A>T		No	ClinGen TOPMed
CA369699819 rs1458937880	956	V>I		No	ClinGen TOPMed
CA4544150 rs202036368	957	S>*		No	ClinGen ExAC TOPMed gnomAD
CA369699878 rs1315036880	959	H>L		No	ClinGen TOPMed gnomAD
rs750211132 CA168301070	959	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA4544151 rs780954484	959	H>Y		No	ClinGen ExAC
rs1216445824 CA369699891	960	P>A		No	ClinGen gnomAD
rs1271011567 CA369699898	960	P>L		No	ClinGen gnomAD
CA369699904 rs1392005906	961	E>K		No	ClinGen TOPMed
rs1211092234 CA369699934	962	A>V		No	ClinGen gnomAD
CA369699957 rs1448717131	964	A>T		No	ClinGen TOPMed
CA369699969 rs1243523304	964	A>V		No	ClinGen TOPMed gnomAD
CA369700025 rs1489478147	967	P>H		No	ClinGen TOPMed
CA369700020 rs1408153481	967	P>S		No	ClinGen gnomAD
rs1266076797 CA369700090	971	T>R		No	ClinGen TOPMed
CA369700095 rs1587067058	972	T>P		No	ClinGen Ensembl
rs755904466 CA4544153	977	A>V		No	ClinGen ExAC TOPMed gnomAD
CA369700265 rs1554442282	982	R>W		No	ClinGen Ensembl
CA369700358 rs1233904147	988	A>T		No	ClinGen TOPMed gnomAD
CA369700402 rs1408943209	990	Q>R		No	ClinGen TOPMed gnomAD
CA4544155 rs749242397	991	P>A		No	ClinGen ExAC TOPMed gnomAD
rs772155279 CA4544156	991	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA369700417 rs749242397	991	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1336613898 CA369700468	993	K>N		No	ClinGen TOPMed gnomAD
rs1366509702 CA369700490	995	S>G		No	ClinGen gnomAD
rs1268421041 CA369700505	995	S>R		No	ClinGen TOPMed gnomAD
rs1433530021 CA369700497	995	S>T		No	ClinGen gnomAD
rs1292415331 CA369700565	1001	K>R		No	ClinGen TOPMed
rs1422278528 CA369700578	1002	A>V		No	ClinGen TOPMed
rs1372326457 CA369700633	1007	H>P		No	ClinGen TOPMed
rs551046729 CA168301122	1009	R>G		No	ClinGen 1000Genomes TOPMed gnomAD
CA369700665 rs1265287099	1009	R>Q		No	ClinGen TOPMed gnomAD
CA369700661 rs551046729	1009	R>W		No	ClinGen 1000Genomes TOPMed gnomAD
CA369700682 rs1325374541	1010	D>Y		No	ClinGen gnomAD
CA369700729 rs1242322218	1013	R>K		No	ClinGen gnomAD
CA369700742 rs1447449670	1014	P>S		No	ClinGen gnomAD
rs1195246930 CA369700756	1015	P>S		No	ClinGen gnomAD
rs1474830917 CA369700780	1016	G>E		No	ClinGen TOPMed gnomAD
rs1239862011 CA369700765	1016	G>R		No	ClinGen TOPMed gnomAD
rs1482438894 CA369700792	1017	D>G		No	ClinGen gnomAD
rs1435106653 CA369700993	1029	A>T		No	ClinGen TOPMed
CA369701024 rs1467937719	1030	N>K		No	ClinGen TOPMed gnomAD
CA369701022 rs1467937719	1030	N>K		No	ClinGen TOPMed gnomAD
rs1402946502 CA369701156	1037	R>Q		No	ClinGen TOPMed gnomAD
rs1389845302 CA369701152	1037	R>W		No	ClinGen gnomAD
CA369701210 rs1325908983	1041	R>C		No	ClinGen gnomAD
rs1437327223 CA369701214	1041	R>H		No	ClinGen gnomAD
rs1285305348 CA369701327	1051	S>L		No	ClinGen TOPMed gnomAD
rs1452653576 CA369701329	1052	D>Y		No	ClinGen gnomAD
rs1289287649 CA369703209	1054	R>T		No	ClinGen gnomAD
rs767007631 CA4544172	1055	G>S		No	ClinGen ExAC gnomAD
rs755849446 CA4544174	1057	A>G		No	ClinGen ExAC gnomAD
rs753676204 CA369703230	1058	V>L		No	ClinGen ExAC TOPMed gnomAD
rs753676204 CA4544176	1058	V>M		No	ClinGen ExAC TOPMed gnomAD
CA369703240 rs1221248366	1059	E>D		No	ClinGen gnomAD
CA369703237 rs1587067702	1059	E>G		No	ClinGen Ensembl
rs778970525 CA4544178	1059	E>K		No	ClinGen ExAC TOPMed gnomAD
CA4544180 rs757364535	1061	H>Y		No	ClinGen ExAC gnomAD
CA4544181 rs781507585	1062	P>L		No	ClinGen ExAC TOPMed gnomAD
CA369703269 rs1445694487	1064	P>H		No	ClinGen gnomAD
CA4544183 rs770179467	1064	P>S		No	ClinGen ExAC TOPMed
CA369703267 rs770179467	1064	P>T		No	ClinGen ExAC TOPMed
CA369703283 rs1230419741	1066	D>G		No	ClinGen gnomAD
CA4544184 rs775975827	1068	V>A		No	ClinGen ExAC TOPMed gnomAD
rs749717858 CA4544185	1069	V>I		No	ClinGen ExAC TOPMed gnomAD
rs774923828 CA4544187	1071	R>Q		No	ClinGen ExAC gnomAD
CA4544186 rs769037711	1071	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1587068009 CA369703376	1078	V>A		No	ClinGen Ensembl
rs199750164 CA168301554	1085	R>C		No	ClinGen gnomAD
rs199750164 CA369703420	1085	R>G		No	ClinGen gnomAD
rs1241876630 CA369703421	1085	R>H		No	ClinGen gnomAD
rs1587068022 CA369703438	1088	K>Q		No	ClinGen Ensembl
CA369703642 rs1162868439	1114	R>Q		No	ClinGen TOPMed
CA369703769 rs1460601102	1127	P>L		No	ClinGen TOPMed gnomAD
CA369703777 rs1167615207	1128	R>Q		No	ClinGen gnomAD
CA4544199 rs757235970	1146	M>T		No	ClinGen ExAC TOPMed gnomAD
CA369704607 rs1289431707	1178	V>F		No	ClinGen gnomAD
CA4544216 rs752538365	1181	E>D		No	ClinGen ExAC TOPMed gnomAD
rs530089551 CA4544217	1182	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4544218 rs548273488	1183	I>M		No	ClinGen 1000Genomes ExAC gnomAD
CA369704669 rs1380067811	1183	I>S		No	ClinGen gnomAD
CA4544222 rs754110662	1184	V>A		No	ClinGen ExAC gnomAD
CA4544221 rs780362818	1184	V>L		No	ClinGen ExAC gnomAD
CA369704674 rs780362818	1184	V>M		No	ClinGen ExAC gnomAD
rs1312048754 CA369704690	1185	S>*		No	ClinGen gnomAD
rs779302423 CA4544224	1186	E>A		No	ClinGen ExAC gnomAD
rs755253155 CA369704696	1186	E>K		No	ClinGen ExAC gnomAD
rs755253155 CA4544223	1186	E>Q		No	ClinGen ExAC gnomAD
CA4544225 rs748514299	1187	A>P		No	ClinGen ExAC gnomAD
CA369704719 rs1204577570	1188	S>P		No	ClinGen gnomAD
CA369704739 rs778321468	1189	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1159641787 CA369704730	1189	Y>H		No	ClinGen TOPMed
rs746453268 CA369704742	1190	L>V		No	ClinGen ExAC gnomAD
CA4544229 rs560154773	1191	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4544230 rs141938730	1191	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA369704758 rs141938730	1191	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA168302188 rs200693015	1192	S>G		No	ClinGen gnomAD
CA369704772 rs1346853830	1193	L>I		No	ClinGen gnomAD
rs1346853830 CA369704774	1193	L>V		No	ClinGen gnomAD
rs1365668638 CA369704842	1199	H>N		No	ClinGen gnomAD
CA369704864 rs1281048560	1200	F>C		No	ClinGen gnomAD
CA4544234 rs762907862	1200	F>L		No	ClinGen ExAC gnomAD
CA369704881 rs1340549833	1201	Q>H		No	ClinGen TOPMed gnomAD
rs1224643181 CA369704877	1201	Q>R		No	ClinGen gnomAD
rs1309628165 CA369704887	1202	L>F		No	ClinGen gnomAD
CA4544236 rs527662838	1203	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4544235 rs527662838	1203	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4544237 rs760785477	1204	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1292583567 CA369704913	1205	S>A		No	ClinGen gnomAD
rs766594811 CA4544238	1206	L>F		No	ClinGen ExAC gnomAD
CA4544240 rs755202652 COSM1086926	1207	R>Q	endometrium breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs753900000 CA4544239	1207	R>W		No	ClinGen ExAC gnomAD
CA4544242 rs753105342	1208	A>T		No	ClinGen ExAC gnomAD
rs1417168970 CA369704958	1210	L>F		No	ClinGen TOPMed gnomAD
rs1341100756 CA369704962	1210	L>P		No	ClinGen TOPMed
CA369704971 rs1385299792	1211	S>C		No	ClinGen gnomAD
rs1158047640 CA369704968	1211	S>P		No	ClinGen gnomAD
CA369704979 rs1312125778	1212	N>D		No	ClinGen TOPMed
CA4544243 rs758769269	1212	N>S		No	ClinGen ExAC gnomAD
CA4544244 rs778198707	1215	H>D		No	ClinGen ExAC gnomAD
rs1348885417 CA369705026	1215	H>Q		No	ClinGen gnomAD
CA4544247 rs780723507	1217	W>*		No	ClinGen ExAC gnomAD
CA4544246 rs756716048	1217	W>R		No	ClinGen ExAC gnomAD
CA369705050 rs780723507	1217	W>S		No	ClinGen ExAC gnomAD
rs1413412409 CA369705061	1218	L>H		No	ClinGen TOPMed
rs1413412409 CA369705063	1218	L>P		No	ClinGen TOPMed
rs745426840 CA4544248	1220	S>F		No	ClinGen ExAC gnomAD
CA4544249 rs769482772	1221	R>C		No	ClinGen ExAC TOPMed gnomAD
rs775008156 CA4544250	1221	R>H		No	ClinGen ExAC TOPMed gnomAD
rs775008156 CA369705099	1221	R>L		No	ClinGen ExAC TOPMed gnomAD
CA369705105 rs1289273260	1222	L>*		No	ClinGen gnomAD
rs749031992 CA4544251	1223	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA369705112 rs749031992	1223	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA4544253 rs774389146	1225	V>M		No	ClinGen ExAC gnomAD
CA4544254 rs761806185	1226	R>*		No	ClinGen ExAC gnomAD
rs761806185 CA369705149	1226	R>G		No	ClinGen ExAC gnomAD
rs767400012 CA4544256	1226	R>L		No	ClinGen ExAC TOPMed gnomAD
CA4544255 rs767400012	1226	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA369705156 rs1243635027	1227	D>N		No	ClinGen gnomAD
rs765436460 CA4544258	1228	V>I		No	ClinGen ExAC TOPMed gnomAD
CA4544260 COSM1086927 rs758714011	1230	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4544261 rs764474357	1231	T>M		No	ClinGen ExAC TOPMed gnomAD
CA369705283 rs1317548788	1243	N>S		No	ClinGen gnomAD
CA369705346 rs1197723500	1252	V>I		No	ClinGen gnomAD
rs1263540570 CA369705373	1256	H>Y		No	ClinGen gnomAD
rs1185414693 CA369705396	1259	D>A		No	ClinGen gnomAD
rs1462542914 CA369705391	1259	D>N		No	ClinGen TOPMed gnomAD
rs1462542914 CA369705393	1259	D>Y		No	ClinGen TOPMed gnomAD
CA369705409 rs1236370606	1261	R>C		No	ClinGen TOPMed gnomAD
rs1475482853 CA369705411	1261	R>H		No	ClinGen gnomAD
CA369705509 rs1278552366	1276	R>C		No	ClinGen TOPMed
rs745308230 CA4544266	1286	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1477253010 CA369705618	1289	R>Q		No	ClinGen TOPMed gnomAD
rs755592670 CA4544267	1289	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1199783218 CA369705626	1290	E>A		No	ClinGen TOPMed gnomAD
rs1431891315 CA369705627	1290	E>D		No	ClinGen TOPMed gnomAD
CA369705632 rs1587070575	1291	V>G		No	ClinGen Ensembl
rs1306854293 CA369705659	1295	L>V		No	ClinGen TOPMed
CA369705685 rs1172476218	1297	S>R		No	ClinGen TOPMed gnomAD
CA369705693 rs1386247790	1298	D>N		No	ClinGen TOPMed gnomAD
CA369705723 rs1360049836	1300	V>I		No	ClinGen TOPMed gnomAD
CA369705741 rs1405766090	1301	C>F		No	ClinGen TOPMed gnomAD
rs1405766090 CA369705737	1301	C>Y		No	ClinGen TOPMed gnomAD
rs1305240117 CA369705767	1303	R>C		No	ClinGen gnomAD
COSM1086928 rs1347124810 CA369705771	1303	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1373074670 CA369705871	1311	I>F		No	ClinGen TOPMed
rs774262756 CA4544271	1313	P>L		No	ClinGen ExAC
CA369705943 rs1274052454	1316	R>C		No	ClinGen TOPMed gnomAD
CA369705945 rs1426354840	1316	R>H		No	ClinGen TOPMed
rs1351241566 CA369705979	1319	R>C		No	ClinGen TOPMed gnomAD
rs748010261 CA4544272	1319	R>H		No	ClinGen ExAC TOPMed gnomAD
CA4544279 rs539414760	1326	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1177280828 CA369706076	1327	I>V		No	ClinGen gnomAD
rs1238058775 CA369706098	1330	R>I		No	ClinGen TOPMed gnomAD
rs1445789498 CA369706110	1332	Q>*		No	ClinGen gnomAD
rs1259039242 CA369706124	1334	G>C		No	ClinGen TOPMed
rs1247161119 CA369706133	1335	S>F		No	ClinGen TOPMed
rs751915663 CA4544280	1336	S>L		No	ClinGen ExAC TOPMed gnomAD
CA369706158 rs1168772087	1339	A>E		No	ClinGen TOPMed gnomAD
CA369706160 rs1168772087	1339	A>V		No	ClinGen TOPMed gnomAD
rs1396920583 CA369706169	1341	A>T		No	ClinGen gnomAD
CA369706179 rs768010897	1342	T>M		No	ClinGen ExAC TOPMed gnomAD
rs768010897 CA4544282	1342	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1376002604 CA369706192	1344	A>E		No	ClinGen gnomAD
CA369706210 rs1338245561	1347	A>T		No	ClinGen TOPMed gnomAD
rs1417034691 CA369706215	1347	A>V		No	ClinGen TOPMed
rs1243581797 CA369706235 COSM1736977	1350	Q>H	central_nervous_system [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1243581797 COSM1736977 CA369706236	1350	Q>H	central_nervous_system [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1205744015 CA369706251	1351	L>P		No	ClinGen TOPMed gnomAD
CA4544305 rs377472423	1353	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4544304 rs377472423 COSM328875	1353	R>Q	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs767049125 CA4544303	1353	R>W		No	ClinGen ExAC TOPMed
rs778652393 CA4544306	1354	D>N		No	ClinGen ExAC TOPMed gnomAD
CA369706272 rs1193282737	1355	C>Y		No	ClinGen gnomAD
CA4544307 rs368819603	1356	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA369706277 rs368819603	1356	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs550202096 CA4544308	1358	N>D		No	ClinGen 1000Genomes ExAC gnomAD
CA369706294 rs1188729761	1358	N>T		No	ClinGen TOPMed
CA4544310 rs568675918	1359	V>D		No	ClinGen 1000Genomes ExAC gnomAD
CA4544309 rs777400202	1359	V>I		No	ClinGen ExAC gnomAD
rs1288872860 CA369706307	1360	Q>R		No	ClinGen gnomAD
rs770762631 CA4544311	1361	S>I		No	ClinGen ExAC gnomAD
CA4544312 rs770762631	1361	S>N		No	ClinGen ExAC gnomAD
CA369706318 rs1397734759	1362	M>V		No	ClinGen gnomAD
COSM1086932 rs150657398 CA4544313	1363	R>*	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA4544314 rs150657398	1363	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs371290191 CA4544317	1364	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs371290191 CA4544318	1364	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4544316 rs761905812	1364	R>W		No	ClinGen ExAC TOPMed gnomAD
rs179371 CA369706352	1367	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1587071331 CA369706345	1367	E>K		No	ClinGen Ensembl
rs1487374957 CA369706375	1371	L>Q		No	ClinGen TOPMed gnomAD
rs1343080354 CA369706384	1372	S>R		No	ClinGen gnomAD
rs752291838 CA4544324	1373	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA369706394 rs757965348	1374	K>*		No	ClinGen ExAC TOPMed gnomAD
CA4544325 rs757965348	1374	K>E		No	ClinGen ExAC TOPMed gnomAD
rs763867262 CA4544326	1377	F>L		No	ClinGen ExAC gnomAD
CA369706419 rs1461376469	1377	F>S		No	ClinGen TOPMed
rs1244753175 CA369686222	1383	P>L		No	ClinGen TOPMed gnomAD
rs1244753175 CA369686220	1383	P>R		No	ClinGen TOPMed gnomAD
rs777242675 CA4544338	1385	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1367701013 CA369686283	1387	Q>*		No	ClinGen TOPMed
CA369686296 rs1239893584	1387	Q>H		No	ClinGen gnomAD
rs1437777747 CA369686316	1389	R>C		No	ClinGen TOPMed gnomAD
rs760092687 CA4544339	1389	R>H		No	ClinGen ExAC TOPMed gnomAD
CA4544342 rs762593389	1392	V>L		No	ClinGen ExAC gnomAD
rs1349626258 CA369686427	1395	G>E		No	ClinGen gnomAD
rs1216123853 CA369686484	1398	T>R		No	ClinGen TOPMed
CA369686482 rs1333815299	1398	T>S		No	ClinGen gnomAD
rs751245039 CA4544344	1399	A>S		No	ClinGen ExAC gnomAD
rs757005670 CA4544345	1402	F>S		No	ClinGen ExAC TOPMed gnomAD
CA4544346 rs767267649	1404	A>G		No	ClinGen ExAC TOPMed gnomAD
CA369686576 rs1265234342	1404	A>T		No	ClinGen TOPMed
rs1308954154 CA369686600	1406	P>A		No	ClinGen TOPMed
rs750264053 CA4544347	1407	G>E		No	ClinGen ExAC gnomAD
rs756027350 CA4544348	1408	L>I		No	ClinGen ExAC TOPMed gnomAD
rs531596359 CA4544349	1409	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748105828 CA4544350	1409	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA369686646 rs1327776609	1410	R>K		No	ClinGen TOPMed
CA369686659 rs1199040913	1410	R>S		No	ClinGen Ensembl
rs750297432 CA4544351	1414	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1198010687 CA369686737	1415	R>C		No	ClinGen TOPMed gnomAD
CA369686736 rs1198010687	1415	R>G		No	ClinGen TOPMed gnomAD
rs200961550 CA4544352	1415	R>H		No	ClinGen ExAC TOPMed gnomAD
CA4544354 rs771323721	1418	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA369686812 rs1448891727	1422	F>L		No	ClinGen TOPMed
CA369686817 rs1334007138	1423	N>D		No	ClinGen TOPMed gnomAD
CA369686821 rs1211774489	1423	N>S		No	ClinGen gnomAD
CA369686854 rs1269762652	1427	L>V		No	ClinGen gnomAD
rs1173188871 CA369686872	1430	R>Q		No	ClinGen TOPMed gnomAD
rs1428758784 CA369686870	1430	R>W		No	ClinGen TOPMed gnomAD
CA4544355 rs777114070	1432	R>*		No	ClinGen ExAC TOPMed gnomAD
rs1465551267 CA369686883	1432	R>P		No	ClinGen TOPMed gnomAD
rs1465551267 CA369686882	1432	R>Q		No	ClinGen TOPMed gnomAD
CA369686904 rs1488410178	1433	E>D		No	ClinGen TOPMed gnomAD
rs1404375789 CA369686905	1434	G>S		No	ClinGen TOPMed
CA369686920 rs1195471092	1436	R>*		No	ClinGen TOPMed gnomAD
rs746293213 CA4544356	1436	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1427812432 CA369686940	1439	V>A		No	ClinGen gnomAD
CA369686937 rs1173562660	1439	V>L		No	ClinGen gnomAD
rs1333518052 CA369686962	1442	H>R		No	ClinGen TOPMed gnomAD
CA369686971 rs1389021977	1443	A>V		No	ClinGen TOPMed
rs1316682254 CA369686977	1444	P>L		No	ClinGen TOPMed gnomAD
CA369686974 rs1186519189	1444	P>S		No	ClinGen TOPMed
rs1289813584 CA369686991	1446	S>F		No	ClinGen TOPMed
CA369686999 rs1402070231	1448	I>V		No	ClinGen TOPMed gnomAD
CA369687008 rs1296622408	1449	R>P		No	ClinGen TOPMed gnomAD
CA369687009 rs1296622408	1449	R>Q		No	ClinGen TOPMed gnomAD
CA369687006 rs1449057267	1449	R>W		No	ClinGen TOPMed gnomAD
CA369687019 rs1436162502	1451	E>A		No	ClinGen TOPMed
rs1436162502 CA369687020	1451	E>G		No	ClinGen TOPMed
rs1309402376 CA369687028	1452	K>R		No	ClinGen TOPMed
rs1389005327 CA369687065	1457	L>I		No	ClinGen TOPMed
rs1217734064 CA369687077	1458	H>Q		No	ClinGen TOPMed gnomAD
rs776071136 CA4544359	1461	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA369687109 rs1476885874	1463	N>S		No	ClinGen TOPMed
CA369687116 rs1253713043	1464	L>P		No	ClinGen TOPMed
CA369687125 rs1346951551	1465	F>L		No	ClinGen TOPMed gnomAD
CA369687127 rs1217469892	1466	R>*		No	ClinGen TOPMed gnomAD
CA369687129 rs762318673	1466	R>L		No	ClinGen ExAC TOPMed gnomAD
CA4544360 rs762318673	1466	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA369687143 rs1343949019	1468	F>L		No	ClinGen TOPMed
rs1410038752 CA369687147	1469	L>P		No	ClinGen TOPMed
CA369687151 rs1218302425	1470	R>Q		No	ClinGen TOPMed gnomAD
CA4544361 rs763690353	1470	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1281916867 CA369687156	1471	Q>P		No	ClinGen TOPMed gnomAD
CA369687186 rs1260539868	1475	G>D		No	ClinGen gnomAD
CA369687189 rs1412756952	1476	A>T		No	ClinGen TOPMed
rs1413888509 CA369687203	1478	A>T		No	ClinGen TOPMed
rs1473025356 CA369687216	1479	E>D		No	ClinGen TOPMed
rs1443753226 CA369687209	1479	E>K		No	ClinGen TOPMed gnomAD
rs773772745 CA4544362	1480	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1256162895 CA369687238	1483	R>C		No	ClinGen TOPMed gnomAD
rs1248828515 CA369687241	1483	R>H		No	ClinGen TOPMed gnomAD
rs1248828515 CA369687243	1483	R>L		No	ClinGen TOPMed gnomAD
CA369687242 rs1248828515	1483	R>P		No	ClinGen TOPMed gnomAD
CA369687245 rs1210021781	1484	T>A		No	ClinGen TOPMed
rs1322104459 CA369687248	1484	T>M		No	ClinGen TOPMed
CA369687262 rs1350286806	1486	T>I		No	ClinGen TOPMed
rs1442096307 CA369687297	1489	E>G		No	ClinGen TOPMed gnomAD
rs1379832792 CA369687315	1492	R>Q		No	ClinGen TOPMed gnomAD
rs753838118 CA4544368	1492	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1206135182 CA369687321	1493	W>*		No	ClinGen TOPMed
CA369687332 rs1587073552	1494	I>S		No	ClinGen Ensembl
rs1458589989 CA369687329	1494	I>V		No	ClinGen gnomAD
CA369687357 rs1165268785	1498	A>V		No	ClinGen gnomAD
rs777881963 CA4544370	1499	M>I		No	ClinGen ExAC gnomAD
rs758372239 CA369687359	1499	M>L		No	ClinGen ExAC TOPMed gnomAD
CA4544369 rs758372239	1499	M>V		No	ClinGen ExAC TOPMed gnomAD
CA369687379 rs1258521540	1502	E>K		No	ClinGen TOPMed
CA4544371 rs751741570	1504	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1377476798 CA369687402	1505	D>H		No	ClinGen gnomAD
CA369687429 rs1448913136	1509	C>R		No	ClinGen gnomAD
CA168293551 rs143643689	1511	N>K		No	ClinGen ESP
CA369687640 rs1587074742	1511	N>T		No	ClinGen Ensembl
CA4544389 rs201067947	1512	S>C		No	ClinGen 1000Genomes ExAC gnomAD
rs201067947 CA168293556	1512	S>F		No	ClinGen 1000Genomes ExAC gnomAD
CA4544390 rs201067947	1512	S>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA369687652 rs1217314173	1513	P>L		No	ClinGen gnomAD
rs1217314173 CA369687651	1513	P>R		No	ClinGen gnomAD
rs1320497038 CA369687649	1513	P>S		No	ClinGen gnomAD
CA4544392 rs781509568	1514	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA168293582 rs906227159	1517	C>G		No	ClinGen TOPMed
rs1202181527 CA369687677	1517	C>S		No	ClinGen TOPMed gnomAD
CA369687689 rs1254183532	1519	R>Q		No	ClinGen gnomAD
rs1442044087 CA369687703	1521	Y>C		No	ClinGen TOPMed gnomAD
CA168293583 rs1033611854	1522	K>E		No	ClinGen TOPMed gnomAD
CA4544395 rs545585481	1523	P>A		No	ClinGen 1000Genomes ExAC gnomAD
COSM1086934 CA4544396 rs749672327	1524	R>*	oesophagus endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA4544397 rs749672327	1524	R>G		No	ClinGen ExAC gnomAD
rs779393147 CA4544398	1524	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4544400 rs139505959	1526	N>D		No	ClinGen ESP ExAC gnomAD
rs908495082 CA168293622	1526	N>S		No	ClinGen Ensembl
rs149995486 CA4544403	1531	L>V		No	ClinGen ESP ExAC gnomAD
rs1295311869 CA369687798	1536	V>L		No	ClinGen gnomAD
CA369687804 rs1236143055	1537	V>L		No	ClinGen gnomAD
rs1236143055 CA369687803	1537	V>M		No	ClinGen gnomAD
rs765156923 CA369687812	1538	M>K		No	ClinGen ExAC gnomAD
CA4544406 rs765156923	1538	M>T		No	ClinGen ExAC gnomAD
rs1254325612 CA369687811	1538	M>V		No	ClinGen gnomAD
rs200973815 CA4544410	1545	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA168294534 rs765592848	1546	G>D		No	ClinGen Ensembl
CA4544411 rs756346759	1546	G>S		No	ClinGen ExAC TOPMed gnomAD
CA4544440 rs746461759	1547	W>*		No	ClinGen ExAC gnomAD
rs756733119 CA369687892	1548	L>M		No	ClinGen ExAC TOPMed gnomAD
CA168294567 rs750992168	1549	E>D		No	ClinGen Ensembl
CA4544443 rs745540669	1549	E>G		No	ClinGen ExAC gnomAD
rs780850417 CA4544442	1549	E>K		No	ClinGen ExAC gnomAD
rs1587075833 CA369687909	1551	V>G		No	ClinGen Ensembl
COSM599673 CA168294582 rs182264437	1551	V>L	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA4544445 rs182264437	1551	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749161855 CA4544446	1552	R>S		No	ClinGen ExAC gnomAD
rs377004169 CA4544447	1553	L>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA168294596 rs377004169	1553	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs774165136 CA4544448	1554	S>*		No	ClinGen ExAC gnomAD
CA4544451 rs770944676	1556	G>R		No	ClinGen ExAC gnomAD
CA369687935 rs770944676	1556	G>W		No	ClinGen ExAC gnomAD
CA4544454 rs759733893	1558	R>P		No	ClinGen ExAC TOPMed gnomAD
CA4544453 rs759733893	1558	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA369687960 rs1351484548	1560	W>*		No	ClinGen TOPMed
CA369687968 rs1587075867	1561	F>V		No	ClinGen Ensembl
rs1324128696 CA369687983	1563	V>E		No	ClinGen TOPMed
rs1163111473 COSM1086936 CA369687982	1563	V>M	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1417682742 CA369687991	1564	Q>P		No	ClinGen gnomAD
CA369688007 rs1587075895	1566	V>G		No	ClinGen Ensembl
rs1466575458 CA369688004	1566	V>L		No	ClinGen gnomAD
CA168294611 rs61734507	1568	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA168294613 rs1036782686	1571	N>T		No	ClinGen Ensembl
CA369688080 rs1163025621	1573	E>V		No	ClinGen TOPMed
rs764608154 CA4544457	1575	R>C		No	ClinGen ExAC TOPMed gnomAD
rs200654855 CA4544458 COSM3778203	1575	R>H	urinary_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs200654855 CA369688100	1575	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs764608154 CA369688096	1575	R>S		No	ClinGen ExAC TOPMed gnomAD
CA369688192 rs1333938354	1582	A>V		No	ClinGen gnomAD
rs1248896838 CA369688197	1583	H>Y		No	ClinGen TOPMed
CA4544461 rs750003677 COSM1086937	1584	R>*	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA168294664 rs929855653	1589	K>R		No	ClinGen TOPMed gnomAD
CA369688281 rs1451383944	1590	L>P		No	ClinGen TOPMed
rs1436036899 COSM1086938 CA369688301	1592	L>M	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA4544462 rs755821434	1594	E>K		No	ClinGen ExAC gnomAD
rs148911928 CA4544464	1595	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA4544463 rs148911928	1595	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA369688346 rs1484029469	1595	Q>L		No	ClinGen gnomAD
rs778868330 CA4544466	1596	Q>E		No	ClinGen ExAC gnomAD
CA4544467 rs748003193	1597	A>T		No	ClinGen ExAC gnomAD
rs776561180 CA4544469	1598	A>S		No	ClinGen ExAC gnomAD

No associated diseases with Q12774

5 regional properties for Q12774

Type	Name	Position	InterPro Accession
domain	Dbl homology (DH) domain	1174 - 1358	IPR000219
conserved_site	Guanine-nucleotide dissociation stimulator, CDC24, conserved site	1306 - 1331	IPR001331
domain	SH3 domain	1510 - 1571	IPR001452
domain	Rho guanine nucleotide exchange factor 5/35, N-terminal	1 - 478	IPR029212
domain	Ephexin-like, PH domain	1378 - 1504	IPR047270

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Nucleus Cell projection, podosome
PANTHER Family	PTHR12845	GUANINE NUCLEOTIDE EXCHANGE FACTOR
PANTHER Subfamily	PTHR12845:SF2	DH DOMAIN-CONTAINING PROTEIN-RELATED
PANTHER Protein Class	guanyl-nucleotide exchange factor G-protein modulator protein-binding activity modulator
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
cell junction	A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella.
cell periphery	The part of a cell encompassing the cell cortex, the plasma membrane, and any external encapsulating structures.
cell projection	A prolongation or process extending from a cell, e.g. a flagellum or axon.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
podosome	An actin-rich adhesion structure characterized by formation upon cell substrate contact and localization at the substrate-attached part of the cell, contain an F-actin-rich core surrounded by a ring structure containing proteins such as vinculin and talin, and have a diameter of 0.5 mm.

3 GO annotations of molecular function

Name	Definition
GTP binding	Binding to GTP, guanosine triphosphate.
guanyl-nucleotide exchange factor activity	Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions.
lipid binding	Binding to a lipid.

14 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.
activation of GTPase activity	Any process that initiates the activity of an inactive GTPase through the replacement of GDP by GTP.
hematopoietic stem cell homeostasis	Any biological process involved in the maintenance of the steady-state number of hematopoietic stem cells within a population of cells.
intracellular signal transduction	The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
myeloid dendritic cell chemotaxis	The movement of a myeloid dendritic cell in response to an external stimulus.
positive regulation of DNA-binding transcription factor activity	Any process that activates or increases the frequency, rate or extent of activity of a transcription factor, any factor involved in the initiation or regulation of transcription.
positive regulation of JUN kinase activity	Any process that activates or increases the frequency, rate or extent of JUN kinase activity.
positive regulation of podosome assembly	Any process that activates or increases the rate or extent of podosome assembly.
positive regulation of protein import	Any process that activates or increases the frequency, rate or extent of protein import.
positive regulation of stress fiber assembly	Any process that activates or increases the frequency, rate or extent of the assembly of a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts.
regulation of actin cytoskeleton organization	Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
regulation of cytoskeleton organization	Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures.
regulation of GTPase activity	Any process that modulates the rate of GTP hydrolysis by a GTPase.
regulation of small GTPase mediated signal transduction	Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction.

12 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A5YM69	ARHGEF35	Rho guanine nucleotide exchange factor 35	Homo sapiens (Human)	PR
Q8IW93	ARHGEF19	Rho guanine nucleotide exchange factor 19	Homo sapiens (Human)	SS
Q5VV41	ARHGEF16	Rho guanine nucleotide exchange factor 16	Homo sapiens (Human)	PR
O94989	ARHGEF15	Rho guanine nucleotide exchange factor 15	Homo sapiens (Human)	SS
Q8N5V2	NGEF	Ephexin-1	Homo sapiens (Human)	EV
Q96DR7	ARHGEF26	Rho guanine nucleotide exchange factor 26	Homo sapiens (Human)	SS
Q8BWA8	Arhgef19	Rho guanine nucleotide exchange factor 19	Mus musculus (Mouse)	PR
Q3U5C8	Arhgef16	Rho guanine nucleotide exchange factor 16	Mus musculus (Mouse)	PR
Q8CHT1	Ngef	Ephexin-1	Mus musculus (Mouse)	SS
Q5FWH6	Arhgef15	Rho guanine nucleotide exchange factor 15	Mus musculus (Mouse)	SS
E9Q7D5	Arhgef5	Rho guanine nucleotide exchange factor 5	Mus musculus (Mouse)	SS
Q5BKC9	Ngef	Ephexin-1	Rattus norvegicus (Rat)	SS

10	20	30	40	50	60
MEAEEAQRGA	SPPISAIEEF	SIIPEAPMRS	SQVSALGLEA	QEDEDPSYKW	REEHRLSATQ
70	80	90	100	110	120
QSELRDVCDY	AIETMPSFPK	EGSADVEPNQ	ESLVAEACDT	PEHWEAVPQS	LAGRQARTLA
130	140	150	160	170	180
PPELWACPIQ	SEHLDMAPFS	SDLGSEEEEV	EFWPGLTSLT	LGSGQAEEEE	ETSSDNSGQT
190	200	210	220	230	240
RYYSPCEEHP	AETNQNEGSE	SGTIRQGEEL	PPEELQESQG	LLHPQEVQVL	EEQGQQEAGF
250	260	270	280	290	300
RGEGTLREDV	CADGLLGEEQ	MIEQVNDEKG	EQKQKQEQVQ	DVMLGRQGER	MGLTGEPEGL
310	320	330	340	350	360
NDGEWEQEDM	ERKAQGQGGP	EQGEERKREL	QVPEENRADS	QDEKSQTFLG	KSEEVTGKQE
370	380	390	400	410	420
DHGIKEKGVP	VSGQEAKEPE	SWDGGRLGAV	GRARSREEEN	EHHGPSMPAL	IAPEDSPHCD
430	440	450	460	470	480
LFPGASYLMT	QIPGTQTESR	AEELSPAALS	PSLEPIRCSH	QPISLLGSFL	TEESPDKEID
490	500	510	520	530	540
QNSQQEESRL	RKGTVSSQGT	EVVFASASVT	PPRTPDSAPP	SPAEAYPITP	ASVSARPPVA
550	560	570	580	590	600
FPRRETSCAA	RAPETASAPL	SMDDPSPCGT	SEMCPAALYG	FPSTGTSPPR	PPANSTGTVQ
610	620	630	640	650	660
HLRSDSFPGS	HRTEQTPDLV	GMLLSYSHSE	LPQRPPKPAI	YSSVTPRRDR	RSGRDYSTVS
670	680	690	700	710	720
ASPTALSTLK	QDSQESISNL	ERPSSPPSIQ	PWVSPHNPAF	ATESPAYGSS	PSFVSMEDVR
730	740	750	760	770	780
IHEPLPPPPP	QRRDTHPSVV	ETDGHARVVV	PTLKQHSHPP	PLALGSGLHA	PHKGPLPQAS
790	800	810	820	830	840
DPAVARQHRP	LPSTPDSSHH	AQATPRWRYN	KPLPPTPDLP	QPHLPPISAP	GSSRIYRPLP
850	860	870	880	890	900
PLPIIDPPTE	PPPLPPKSRG	RSRSTRGGHM	NSGGHAKTRP	ACQDWTVPLP	ASAGRTSWPP
910	920	930	940	950	960
ATARSTESFT	STSRSKSEVS	PGMAFSNMTN	FLCPSSPTTP	WTPELQGPTS	KDEAGVSEHP
970	980	990	1000	1010	1020
EAPAREPLRR	TTPQQGASGP	GRSPVGQARQ	PEKPSHLHLE	KASSWPHRRD	SGRPPGDSSG
1030	1040	1050	1060	1070	1080
QAVAPSEGAN	KHKGWSRQGL	RRPSILPEGS	SDSRGPAVEK	HPGPSDTVVF	REKKPKEVMG
1090	1100	1110	1120	1130	1140
GFSRRCSKLI	NSSQLLYQEY	SDVVLNKEIQ	SQQRLESLSE	TPGPSSPRQP	RKALVSSESY
1150	1160	1170	1180	1190	1200
LQRLSMASSG	SLWQEIPVVR	NSTVLLSMTH	EDQKLQEVKF	ELIVSEASYL	RSLNIAVDHF
1210	1220	1230	1240	1250	1260
QLSTSLRATL	SNQEHQWLFS	RLQDVRDVSA	TFLSDLEENF	ENNIFSFQVC	DVVLNHAPDF
1270	1280	1290	1300	1310	1320
RRVYLPYVTN	QTYQERTFQS	LMNSNSNFRE	VLEKLESDPV	CQRLSLKSFL	ILPFQRITRL
1330	1340	1350	1360	1370	1380
KLLLQNILKR	TQPGSSEEAE	ATKAHHALEQ	LIRDCNNNVQ	SMRRTEELIY	LSQKIEFECK
1390	1400	1410	1420	1430	1440
IFPLISQSRW	LVKSGELTAL	EFSASPGLRR	KLNTRPVHLH	LFNDCLLLSR	PREGSRFLVF
1450	1460	1470	1480	1490	1500
DHAPFSSIRG	EKCEMKLHGP	HKNLFRLFLR	QNTQGAQAEF	LFRTETQSEK	LRWISALAMP
1510	1520	1530	1540	1550	1560
REELDLLECY	NSPQVQCLRA	YKPRENDELA	LEKADVVMVT	QQSSDGWLEG	VRLSDGERGW
1570	1580	1590
FPVQQVEFIS	NPEVRAQNLK	EAHRVKTAKL	QLVEQQA