AiPD: Autoinhibited Protein Database

P19174

Gene name	PLCG1
Protein name	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1
Names	PLC-148, Phosphoinositide phospholipase C-gamma-1, Phospholipase C-II, PLC-II, Phospholipase C-gamma-1, PLC-gamma-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5335
EC number	3.1.4.11: Phosphoric diester hydrolases
Protein Class	PHOSPHOINOSITIDE-SPECIFIC PHOSPHOLIPASE C FAMILY PROTEIN (PTHR10336)

Descriptions

Phospholipase C gamma 1 (PLCγ1) is an enzyme that plays a crucial role in intracellular signaling pathways. It hydrolyzes phosphatidylinositol 4,5-bisphosphate (PIP2) to generate second messengers. The autoinhibition of PLCγ1 is mediated by the interaction of its sPH and cSH2 domains, which form extensive autoinhibitory contacts with the core of PLCγ1, thereby blocking membrane engagement and access to the PIP2 substrate. Autoinhibition is relieved by phosphorylation at Y783.

Autoinhibitory domains (AIDs)

Target domain	320-465 (Catalytic PLC X domain)
Relief mechanism	PTM, Partner binding
Assay	Structural analysis

AID

489-523 (sPH domain, first part)

Target domain

320-465 (Catalytic PLC X domain)

Relief mechanism

PTM (Phosphorylation of Y783. This phosphorylated region directly interacts with cSH2 domain.), Partner binding (Interactions with scaffold proteins such as SLP-76)

Assay

Structural analysis

Target domain	320-465 (Catalytic PLC X domain)
Relief mechanism	PTM, Partner binding
Assay	Structural analysis

AID

895-931 (sPH domain, second part)

Target domain

320-465 (Catalytic PLC X domain)

Relief mechanism

PTM (Phosphorylation of Y783. This phosphorylated region directly interacts with cSH2 domain.), Partner binding (Interactions with scaffold proteins such as SLP-76)

Assay

Structural analysis

Target domain	320-465 (Catalytic PLC X domain)
Relief mechanism	PTM
Assay	Structural analysis

AID

668-756 (cSH2 domain)

Target domain

320-465 (Catalytic PLC X domain)

Relief mechanism

PTM (Phosphorylation of Y783. This phosphorylated region directly interacts with cSH2 domain.);Partner binding(Interactions with scaffold proteins such as SLP-76)

Assay

Structural analysis

Accessory elements

No accessory elements

References

Lowe J et al. (2022) "Conformational switches that control the TEC kinase - PLCγ signaling axis", Journal of structural biology: X, 6, 100061

Bunney TD et al. (2012) "Structural and functional integration of the PLCγ interaction domains critical for regulatory mechanisms and signaling deregulation", Structure (London, England : 1993), 20, 2062-75

Hajicek N et al. (2019) "Structural basis for the activation of PLC-γ isozymes by phosphorylation and cancer-associated mutations", eLife, 8,

Devkota S et al. (2015) "Scaffold Protein SLP-76 Primes PLCγ1 for Activation by ITK-Mediated Phosphorylation", Journal of molecular biology, 427, 2734-47

Kunze K et al. (2014) "A recurrent activating PLCG1 mutation in cardiac angiosarcomas increases apoptosis resistance and invasiveness of endothelial cells", Cancer research, 74, 6173-83

DeBell K et al. (2007) "Intramolecular regulation of phospholipase C-gamma1 by its C-terminal Src homology 2 domain", Molecular and cellular biology, 27, 854-63

Xie Q et al. (2013) "Substrate recognition of PLCγ1 via a specific docking surface on Itk", Journal of molecular biology, 425, 683-96

Muralidharan K et al. (2021) "Structure and regulation of phospholipase Cβ and ε at the membrane", Chemistry and physics of lipids, 235, 105050

Charpentier TH et al. (2014) "Membrane-induced allosteric control of phospholipase C-β isozymes", The Journal of biological chemistry, 289, 29545-57

Lyon AM et al. (2011) "An autoinhibitory helix in the C-terminal region of phospholipase C-β mediates Gαq activation", Nature structural & molecular biology, 18, 999-1005

Autoinhibited structure

Activated structure

6 structures for P19174

Entry ID	Method	Resolution	Chain	Position	Source
1HSQ	NMR	-	A	790-851	PDB
2HSP	NMR	-	A	790-851	PDB
4EY0	X-ray	280 A	A/B/C/D	545-790	PDB
4FBN	X-ray	240 A	A	545-790	PDB
7NXE	X-ray	210 A	A	545-772	PDB
AF-P19174-F1	Predicted				AlphaFoldDB

810 variants for P19174

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA409023144 rs1456314705	3	G>D		No	ClinGen TOPMed gnomAD
CA409023147 rs1213704010	4	A>S		No	ClinGen TOPMed
CA409023166 rs996490140	7	P>A		No	ClinGen TOPMed gnomAD
CA409023169 rs1370900408	7	P>L		No	ClinGen TOPMed gnomAD
CA409023168 rs1370900408	7	P>R		No	ClinGen TOPMed gnomAD
CA314465626 rs996490140	7	P>S		No	ClinGen TOPMed gnomAD
CA314465632 rs1029753571	10	N>S		No	ClinGen TOPMed
rs751060774 CA9858439	11	G>C		No	ClinGen ExAC TOPMed gnomAD
CA409023200 rs758902245	12	C>F		No	ClinGen ExAC gnomAD
CA9858440 rs758902245	12	C>Y		No	ClinGen ExAC gnomAD
rs767209449 CA9858441	14	P>L		No	ClinGen ExAC TOPMed gnomAD
CA314465647 rs982526782	15	G>R		No	ClinGen TOPMed
rs1388068258 CA409023235	18	S>W		No	ClinGen TOPMed
CA409023253 rs1314247063	21	E>*		No	ClinGen gnomAD
rs752241982 CA9858442	22	V>L		No	ClinGen ExAC TOPMed gnomAD
CA409023270 rs1352047056	24	H>Y		No	ClinGen gnomAD
CA314465676 rs962558815	28	S>G		No	ClinGen TOPMed
rs1391737778 CA409023305	29	L>V		No	ClinGen gnomAD
rs1476921995 CA409023344	35	M>L		No	ClinGen TOPMed
rs370331909 CA314465722	37	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1254429059 CA409023359	37	L>W		No	ClinGen TOPMed
CA409023377 rs1242770171	39	Y>*		No	ClinGen gnomAD
rs937938614 CA314465736	39	Y>H		No	ClinGen TOPMed
rs777680197 CA9858444	40	S>C		No	ClinGen ExAC gnomAD
rs1319201373 CA409023457	51	F>L		No	ClinGen TOPMed
CA409023454 rs1214244571	51	F>Y		No	ClinGen TOPMed
CA409023471 rs1344697405	53	V>A		No	ClinGen gnomAD
CA9858448 rs745966050	59	Q>H		No	ClinGen ExAC gnomAD
CA409023512 rs745966050	59	Q>H		No	ClinGen ExAC gnomAD
CA9858449 rs771991124	61	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1256141496 CA409023537	63	S>N		No	ClinGen gnomAD
rs917278892 CA314465801	63	S>R		No	ClinGen TOPMed
rs1422524105 CA409023546	65	G>S		No	ClinGen gnomAD
CA314465805 rs930333657	66	A>S		No	ClinGen Ensembl
CA9858451 rs747163333	69	I>T		No	ClinGen ExAC gnomAD
CA9858452 rs780427028	70	E>D		No	ClinGen ExAC TOPMed gnomAD
rs754139169 CA9858454	72	A>T		No	ClinGen ExAC TOPMed gnomAD
CA314487396 rs865794655	73	I>T		No	ClinGen Ensembl
rs1441973031 CA409023598	73	I>V		No	ClinGen TOPMed
CA409023621 rs1320740696	74	D>V		No	ClinGen TOPMed
rs781320756 CA9858471	75	I>F		No	ClinGen ExAC gnomAD
rs575245766 CA9858472	75	I>M		No	ClinGen ExAC TOPMed gnomAD
CA9858473 rs150665888	76	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs150665888 CA409023633	76	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA409023631 rs1470821503	76	R>S		No	ClinGen TOPMed gnomAD
CA9858474 rs773797758	82	R>C		No	ClinGen ExAC gnomAD
rs1287137004 CA409023686	84	G>A		No	ClinGen gnomAD
CA9858475 rs763335638	84	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1364360078 CA409023708	88	R>G		No	ClinGen TOPMed gnomAD
rs1466221639 CA409023710	88	R>Q		No	ClinGen gnomAD
rs1364360078 COSM1533311 CA409023709	88	R>W	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1427252539 CA409023734	91	D>V		No	ClinGen TOPMed
rs1178732404 CA409023738	92	R>G		No	ClinGen TOPMed
rs1215346964 CA409023746	93	Y>S		No	ClinGen gnomAD
CA409023793 rs1264373966	99	F>L		No	ClinGen TOPMed gnomAD
CA409023798 rs1206297650	100	R>P		No	ClinGen gnomAD
CA409023796 rs1206297650	100	R>Q		No	ClinGen gnomAD
rs771660609 CA9858476	100	R>W		No	ClinGen ExAC TOPMed gnomAD
rs763845243 CA9858479	101	P>L		No	ClinGen ExAC gnomAD
CA9858478 rs760443722	101	P>S		No	ClinGen ExAC gnomAD
rs778049993 CA314487464	102	D>E		No	ClinGen Ensembl
CA409023828 rs1176868520	105	H>R		No	ClinGen gnomAD
CA409023849 rs1411171198	108	V>L		No	ClinGen gnomAD
CA9858483 rs367808225	109	I>T		No	ClinGen ESP ExAC gnomAD
CA9858482 rs765088044	109	I>V		No	ClinGen ExAC gnomAD
rs758251235 CA9858484	110	L>F		No	ClinGen ExAC gnomAD
rs758251235 CA409023859	110	L>I		No	ClinGen ExAC gnomAD
CA9858485 COSM2151410 rs766543085	111	Y>C	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs751591742 CA9858486	114	E>D		No	ClinGen ExAC gnomAD
CA9858487 rs754990714	116	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1435051754 CA409023903	116	R>H		No	ClinGen TOPMed
rs1219364873 CA409023909	117	L>P		No	ClinGen TOPMed
CA9858489 rs748327926	119	T>A		No	ClinGen ExAC gnomAD
CA9858490 rs546598406	119	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1023309888 CA314487967	129	E>K		No	ClinGen Ensembl
CA409024036 rs1370182043	134	I>N		No	ClinGen gnomAD
rs776262665 CA9858518	134	I>V		No	ClinGen ExAC gnomAD
rs1408629913 CA409024065	138	T>S		No	ClinGen gnomAD
rs1039805106 CA409024098	143	D>N		No	ClinGen TOPMed gnomAD
CA314487968 rs1039805106	143	D>Y		No	ClinGen TOPMed gnomAD
CA9858520 rs769331980	146	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA9858521 rs772859867	147	A>V		No	ClinGen ExAC gnomAD
rs1418502454 CA409024132	148	P>S		No	ClinGen TOPMed gnomAD
CA409024144 rs1296499510	150	P>S		No	ClinGen gnomAD
CA409024157 rs1273365980	152	Q>L		No	ClinGen gnomAD
rs1441800729 CA409024166	153	I>T		No	ClinGen gnomAD
rs1201636053 CA409024178	155	R>K		No	ClinGen gnomAD
CA9858541 rs777319797	158	R>Q		No	ClinGen ExAC gnomAD
rs769294921 CA9858540	158	R>W		No	ClinGen ExAC TOPMed gnomAD
rs748936661 CA9858542	164	V>M		No	ClinGen ExAC TOPMed gnomAD
rs933312493 CA314488162	165	D>V		No	ClinGen TOPMed gnomAD
CA9858543 rs770679029	166	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA314488184 rs907973449	167	N>S		No	ClinGen Ensembl
rs774118487 CA9858544	168	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9858545 rs776711130	168	R>H		No	ClinGen ExAC TOPMed gnomAD
CA409024288 rs1165275062	170	D>Y		No	ClinGen TOPMed
CA409024295 rs866700700	171	R>C		No	ClinGen Ensembl
CA9858546 rs772001122	171	R>H		No	ClinGen ExAC TOPMed gnomAD
rs772001122 CA409024297	171	R>L		No	ClinGen ExAC TOPMed gnomAD
CA314488199 rs866700700	171	R>S		No	ClinGen Ensembl
rs1568743180 CA409024317	172	I>M		No	ClinGen Ensembl
CA409024312 rs1366018350	172	I>V		No	ClinGen gnomAD
rs748690193 CA9858560	177	L>P		No	ClinGen ExAC
CA409024358 rs1367251299	179	N>H		No	ClinGen TOPMed
rs1324121239 CA409024369	180	M>T		No	ClinGen TOPMed
rs558678682 CA9858561	180	M>V		No	ClinGen ExAC gnomAD
rs745791764 CA9858563	182	S>F		No	ClinGen ExAC TOPMed gnomAD
CA9858562 rs778462471	182	S>P		No	ClinGen ExAC gnomAD
rs746849742 CA9858566	187	R>Q		No	ClinGen ExAC gnomAD
CA409024414 rs1359029150	187	R>W		No	ClinGen TOPMed gnomAD
rs1490626712 CA409024438	191	M>V		No	ClinGen TOPMed gnomAD
rs1270080384 CA409024447	192	R>C		No	ClinGen gnomAD
rs11547263 CA9858568	195	R>*		No	ClinGen ESP ExAC gnomAD
CA9858569 rs377574055	195	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs144195056 CA9858571	197	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1262380 rs370628843 CA9858570	197	R>W	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA9858572 rs763526565	199	T>M		No	ClinGen ExAC gnomAD
CA409024502 rs767910982	200	D>N		No	ClinGen ExAC gnomAD
rs767910982 CA9858594	200	D>Y		No	ClinGen ExAC gnomAD
rs756392951 CA314490073	203	Q>E		No	ClinGen Ensembl
COSM297321 CA9858596 rs756870964	204	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA9858597 COSM1326741 rs764899653	204	R>H	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1243173476 CA409024534	205	S>G		No	ClinGen gnomAD
rs780037190 CA314490078	205	S>N		No	ClinGen Ensembl
CA9858599 rs757915034	206	G>E		No	ClinGen ExAC gnomAD
CA409024540 rs1184456660	206	G>R		No	ClinGen gnomAD
CA9858600 rs779785172	208	I>V		No	ClinGen ExAC gnomAD
CA9858601 rs2229348 VAR_025213	209	T>N		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA314490117 rs199826230	210	Y>C		No	ClinGen 1000Genomes
CA9858605 rs770095468	211	G>R		No	ClinGen ExAC TOPMed gnomAD
rs778157478 CA9858606	213	F>L		No	ClinGen ExAC gnomAD
rs749316523 CA9858607	214	A>T		No	ClinGen ExAC gnomAD
CA409024599 rs1287409920	215	Q>P		No	ClinGen gnomAD
CA409024612 rs1600659365	217	Y>S		No	ClinGen Ensembl
CA409024619 rs1364340186	218	R>C		No	ClinGen TOPMed gnomAD
CA409024618 rs1364340186	218	R>G		No	ClinGen TOPMed gnomAD
rs1401009910 COSM3291349 CA409024620	218	R>H	breast [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA9858608 rs771131816	219	S>N		No	ClinGen ExAC gnomAD
rs774353170 CA9858609	221	M>L		No	ClinGen ExAC gnomAD
CA9858610 rs760067342	223	S>N		No	ClinGen ExAC TOPMed gnomAD
CA9858611 rs772495264	224	A>T		No	ClinGen ExAC TOPMed gnomAD
CA314490158 rs1026618414	224	A>V		No	ClinGen TOPMed gnomAD
rs775883141 CA9858612	225	Q>E		No	ClinGen ExAC gnomAD
rs141297485 CA9858613	227	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA409024707 rs1600659874	229	D>A		No	ClinGen Ensembl
rs772580062 CA9858629	230	L>I		No	ClinGen ExAC gnomAD
rs1383611478 CA409024744	234	E>D		No	ClinGen gnomAD
rs775873128 CA9858630	234	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1324554459 CA409024756	236	S>N		No	ClinGen gnomAD
CA409024764 rs1354468635	237	T>I		No	ClinGen TOPMed gnomAD
CA409024763 rs1354468635	237	T>S		No	ClinGen TOPMed gnomAD
rs1046473537 CA314490361	238	L>V		No	ClinGen TOPMed gnomAD
CA409024787 rs1568744327	239	R>S		No	ClinGen Ensembl
CA409024797 rs1359215308	241	G>E		No	ClinGen TOPMed
rs759301572 CA314490659	243	R>L		No	ClinGen ExAC TOPMed gnomAD
rs759301572 CA9858657	243	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs561188307 CA9858656	243	R>W		No	ClinGen 1000Genomes ExAC gnomAD
rs199669312 CA9858658	244	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1253545336 CA409024825	246	L>F		No	ClinGen gnomAD
CA409024832 rs1377562374	247	C>Y		No	ClinGen TOPMed
rs180794782 CA409024840	248	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs180794782 CA9858660	248	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9858661 rs764158033	251	L>F		No	ClinGen ExAC gnomAD
rs145031121 CA409024858	252	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145031121 CA9858662	252	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9858663 rs372806807	254	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9858664 rs563842379	259	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA9858665 rs750602550	259	L>R		No	ClinGen ExAC TOPMed gnomAD
CA314490701 rs532811529	261	Y>*		No	ClinGen 1000Genomes gnomAD
rs758702634 CA9858666	261	Y>H		No	ClinGen ExAC gnomAD
CA9858667 rs780081401	263	G>R		No	ClinGen ExAC gnomAD
CA9858668 rs780081401	263	G>R		No	ClinGen ExAC gnomAD
CA314490892 rs949982751	266	W>*		No	ClinGen TOPMed
rs1158947816 CA409024970	267	A>T		No	ClinGen gnomAD
rs1384209306 CA409024976	268	V>I		No	ClinGen gnomAD
rs1422530185 CA409024990	270	R>C		No	ClinGen TOPMed gnomAD
rs1295004952 CA409024993	270	R>H		No	ClinGen TOPMed gnomAD
rs1295004952 CA409024994	270	R>P		No	ClinGen TOPMed gnomAD
rs1284837952 CA409024998	271	L>F		No	ClinGen gnomAD
CA9858693 rs749695292	274	Q>*		No	ClinGen ExAC gnomAD
rs1555814297 CA409025018	274	Q>P		No	ClinGen Ensembl
CA9858694 rs771800320	275	E>Q		No	ClinGen ExAC gnomAD
CA9858695 rs779865824	276	F>C		No	ClinGen ExAC TOPMed gnomAD
CA409025041 rs1252694867	277	M>T		No	ClinGen TOPMed
rs1310334089 CA409025047	278	L>F		No	ClinGen TOPMed gnomAD
VAR_022130 rs2228246 CA9858697	279	S>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA409025055 rs1267562986	279	S>T		No	ClinGen gnomAD
rs1195779260 CA409025068	281	L>F		No	ClinGen gnomAD
rs761631765 CA9858699	282	R>*		No	ClinGen ExAC TOPMed
rs769806657 CA9858700	282	R>Q		No	ClinGen ExAC gnomAD
CA409025079 rs1600660954	283	D>A		No	ClinGen Ensembl
rs1178654639 CA409025076	283	D>N		No	ClinGen gnomAD
CA9858703 rs200156118	284	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1166685113 CA409025097	286	R>*		No	ClinGen gnomAD
rs1166685113 CA409025096	286	R>G		No	ClinGen gnomAD
CA409025098 rs1368890145	286	R>Q		No	ClinGen gnomAD
CA409025114 rs1461271281	288	I>S		No	ClinGen gnomAD
CA9858705 rs759815618	289	E>G		No	ClinGen ExAC gnomAD
rs1402349120 CA409025117	289	E>K		No	ClinGen TOPMed gnomAD
rs767563998 CA9858706	291	P>L		No	ClinGen ExAC gnomAD
rs1450657509 CA409025154	294	F>V		No	ClinGen gnomAD
CA9858709 rs778367537	295	L>V		No	ClinGen ExAC TOPMed gnomAD
CA314491032 rs1054292878	296	D>H		No	ClinGen TOPMed
rs775384631 CA9858724	298	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1359996590 CA409025193	298	F>S		No	ClinGen gnomAD
rs1478089489 CA409025200	299	V>F		No	ClinGen TOPMed
rs764441293 CA9858726	303	F>S		No	ClinGen ExAC gnomAD
CA409025225 rs1362884780	303	F>V		No	ClinGen gnomAD
rs754364070 CA9858727	304	S>F		No	ClinGen ExAC gnomAD
CA9858728 rs757895394	305	K>E		No	ClinGen ExAC TOPMed gnomAD
rs765672065 CA9858729	305	K>R		No	ClinGen ExAC TOPMed gnomAD
rs750855309 CA9858730	306	E>D		No	ClinGen ExAC TOPMed gnomAD
CA409025241 rs1301312682	306	E>K		No	ClinGen gnomAD
CA409025268 rs1287680894	309	V>A		No	ClinGen gnomAD
CA409025264 rs1236493474	309	V>M		No	ClinGen TOPMed gnomAD
CA409025286 rs1221385555	311	N>K		No	ClinGen gnomAD
rs747549422 CA9858733	312	S>L		No	ClinGen ExAC TOPMed gnomAD
rs755649148 CA9858734	313	Q>K		No	ClinGen ExAC gnomAD
rs1157151410 CA409025311	315	D>E		No	ClinGen TOPMed gnomAD
rs1418543742 CA409025304	315	D>N		No	ClinGen TOPMed gnomAD
CA409025312 rs1568745366	316	A>T		No	ClinGen Ensembl
rs375313716 CA409025318	317	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA9858736 rs375313716	317	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs375313716 CA9858735	317	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9858737 rs150381500	319	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs150381500 CA9858738 COSM577417	319	P>R	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs780274359 COSM1411788 CA9858740	320	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA9858741 rs749347026	321	T>I		No	ClinGen ExAC TOPMed gnomAD
CA9858742 rs760872932	322	M>T		No	ClinGen ExAC gnomAD
rs1342361981 CA409025347	322	M>V		No	ClinGen TOPMed
rs764219786 CA9858743	323	N>S		No	ClinGen ExAC gnomAD
CA409025362 rs1278742202	324	N>D		No	ClinGen TOPMed
CA9858745 rs776899207	325	P>A		No	ClinGen ExAC TOPMed gnomAD
COSM18201 CA409025370 rs776899207	325	P>S	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs762376220 CA9858746	328	H>N		No	ClinGen ExAC gnomAD
CA314491459 rs932117196	334	S>L		No	ClinGen TOPMed
CA409025508 rs1196868443	343	Q>H		No	ClinGen gnomAD
rs147137389 CA9858771	345	S>C		No	ClinGen ESP ExAC
CA409025567 rs1285670875	352	A>T		No	ClinGen TOPMed
rs995496295 CA314491575	353	Y>H		No	ClinGen TOPMed
rs201158224 CA314491580	355	R>C		No	ClinGen TOPMed
rs1474012171 CA409025586	355	R>H		No	ClinGen TOPMed gnomAD
CA409025589 rs1182747481	356	C>S		No	ClinGen gnomAD
CA9858775 rs375791769	358	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA314491583 rs1041843270	358	R>W		No	ClinGen TOPMed gnomAD
rs756766357 CA9858776	359	M>V		No	ClinGen ExAC gnomAD
rs1173429267 CA409025613	360	G>S		No	ClinGen gnomAD
rs1468827681 CA409025629	362	R>C		No	ClinGen gnomAD
CA409025630 rs1568745783	362	R>H		No	ClinGen Ensembl
COSM1026794 rs1401614966 CA409025708	371	G>S	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA9858791 rs759833563	372	P>L		No	ClinGen ExAC TOPMed gnomAD
CA314491743 rs965746778	389	K>*		No	ClinGen gnomAD
CA409025831 rs965746778	389	K>E		No	ClinGen gnomAD
rs1241801241 CA409025836	389	K>N		No	ClinGen TOPMed
rs1451501322 CA409025875	395	H>L		No	ClinGen gnomAD
rs779874773 CA9858798	396	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1157748083 CA409025891	398	K>E		No	ClinGen gnomAD
rs1378087255 CA409025894	398	K>R		No	ClinGen gnomAD
CA409025913 rs1427537988	400	H>Q		No	ClinGen gnomAD
CA314491828 rs7266677	401	A>V		No	ClinGen Ensembl
rs1254254663 CA409025974	408	P>A		No	ClinGen TOPMed
CA9858822 rs777871395	410	I>F		No	ClinGen ExAC gnomAD
CA9858823 rs373972267	411	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs779105512 CA9858825	413	I>M		No	ClinGen ExAC gnomAD
rs757281116 CA9858824	413	I>V		No	ClinGen ExAC gnomAD
rs772607034 CA9858827	420	A>T		No	ClinGen ExAC TOPMed gnomAD
rs372179838 CA314492497	424	N>D		No	ClinGen Ensembl
CA409026097 rs1397955430	426	A>T		No	ClinGen TOPMed
rs1299020521 CA409026114	428	Y>S		No	ClinGen gnomAD
rs770005346 CA314492507	434	G>V		No	ClinGen Ensembl
rs1156637629 CA409026186	439	T>A		No	ClinGen Ensembl
CA314492555 rs374561302	439	T>I		No	ClinGen ESP
CA9858835 rs759511375	440	K>T		No	ClinGen ExAC gnomAD
CA409026201 rs1218649683	441	P>L		No	ClinGen gnomAD
rs989751003 CA314492591	441	P>S		No	ClinGen gnomAD
rs761490511 CA314492594	442	V>M		No	ClinGen TOPMed gnomAD
rs1201983108 CA409026209	443	E>*		No	ClinGen gnomAD
rs1256660086 CA409026221	444	I>M		No	ClinGen gnomAD
rs752483032 CA9858837	446	A>G		No	ClinGen ExAC gnomAD
rs1171145257 CA409026233	447	D>N		No	ClinGen TOPMed gnomAD
CA314492622 rs1018932736	448	G>R		No	ClinGen TOPMed
CA409026247 rs1304776844	449	L>V		No	ClinGen gnomAD
CA409026253 rs1376513747	450	P>A		No	ClinGen gnomAD
CA409026266 rs1296901039	452	P>T		No	ClinGen gnomAD
CA314492647 rs943101298	453	N>K		No	ClinGen Ensembl
rs1477061591 CA409026274	453	N>S		No	ClinGen TOPMed
CA314492648 rs6065316	455	L>F		No	ClinGen Ensembl
CA9858841 rs757546917	456	K>N		No	ClinGen ExAC
rs201939126 CA314492673	457	R>K		No	ClinGen Ensembl
rs778825098 CA9858842	458	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1299928366 CA409026318	460	L>F		No	ClinGen gnomAD
rs1568747146 CA409026329	461	I>M		No	ClinGen Ensembl
CA9858843 rs745978748	462	K>R		No	ClinGen ExAC gnomAD
CA409026380 rs1487554177	467	A>S		No	ClinGen gnomAD
rs1192925199 CA409026395	469	G>D		No	ClinGen gnomAD
CA9858862 rs758473864	470	S>G		No	ClinGen ExAC gnomAD
CA409026416 rs1439259093	472	Y>F		No	ClinGen gnomAD
rs1323965669 CA409026419	473	E>K		No	ClinGen TOPMed gnomAD
rs755551467 CA9858865	475	V>L		No	ClinGen ExAC gnomAD
CA9858866 rs142392437	476	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs770437583 CA9858868	477	T>A		No	ClinGen ExAC gnomAD
rs1325947682 CA409026460	479	M>T		No	ClinGen gnomAD
CA409026471 rs1375722081	480	M>I		No	ClinGen TOPMed gnomAD
rs1444189416 CA409026483	482	S>P		No	ClinGen gnomAD
CA314492866 rs1050059879	485	D>G		No	ClinGen TOPMed
rs771696019 CA9858871	490	I>M		No	ClinGen ExAC gnomAD
CA9858870 rs745582995	490	I>V		No	ClinGen ExAC gnomAD
CA409026557 rs1448331123	492	N>S		No	ClinGen TOPMed
CA9858872 rs191463364	493	G>D		No	ClinGen 1000Genomes ExAC gnomAD
CA9858874 rs768669005	495	L>F		No	ClinGen ExAC TOPMed gnomAD
CA314492915 rs868442604	503	H>Y		No	ClinGen TOPMed
rs1360177039 CA409026644	504	E>K		No	ClinGen TOPMed
rs774240761 CA9858901	506	Y>C		No	ClinGen ExAC gnomAD
rs759669631 CA9858903	510	F>I		No	ClinGen ExAC TOPMed gnomAD
CA9858902 rs759669631	510	F>V		No	ClinGen ExAC TOPMed gnomAD
CA409026707 rs1331750428	513	T>P		No	ClinGen gnomAD
rs1360746635 CA409026730	516	K>E		No	ClinGen gnomAD
CA409026748 rs1338253404	518	Y>C		No	ClinGen gnomAD
CA9858906 rs764524198	519	Y>C		No	ClinGen ExAC gnomAD
rs1218905484 CA409026800	525	S>I		No	ClinGen TOPMed gnomAD
CA9858911 rs746437684	529	N>S		No	ClinGen ExAC TOPMed gnomAD
CA9858910 rs746437684	529	N>T		No	ClinGen ExAC TOPMed gnomAD
CA409026833 rs1263140740	530	E>K		No	ClinGen gnomAD
rs1195922026 CA409026843	531	D>G		No	ClinGen gnomAD
CA9858913 rs748094134	535	P>T		No	ClinGen ExAC gnomAD
CA9858914 rs375856103	536	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA409026885 rs1170504360	537	E>*		No	ClinGen TOPMed gnomAD
rs369785655 CA409026886	537	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA9858915 rs369785655	537	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1170504360 CA409026883	537	E>K		No	ClinGen TOPMed gnomAD
rs369785655 CA314493250	537	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1350729416 CA409026921	540	S>R		No	ClinGen TOPMed gnomAD
CA409026935 rs1389838883	542	T>R		No	ClinGen gnomAD
CA9858926 rs761221479	547	N>S		No	ClinGen ExAC gnomAD
CA635726335 rs1392836471	549	K>LM*		No	ClinGen gnomAD
CA409026995 rs1241546497	550	W>C		No	ClinGen TOPMed gnomAD
CA635726337 rs1334712648	551	F>L		No	ClinGen gnomAD
rs1246130319 CA635726338	553	G>P		No	ClinGen gnomAD
CA9858928 rs754195849	555	L>V		No	ClinGen ExAC gnomAD
rs374424548 CA9858929	557	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs765759937 CA409027047	559	R>C		No	ClinGen ExAC TOPMed gnomAD
rs765759937 CA9858930	559	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9858931 rs751206547	559	R>H		No	ClinGen ExAC gnomAD
CA409027057 rs754632617	560	D>E		No	ClinGen ExAC TOPMed gnomAD
CA409027061 rs1197697879	561	G>R		No	ClinGen TOPMed gnomAD
rs1235966083 CA409027064	561	G>V		No	ClinGen gnomAD
CA409027068 rs1182207855	562	R>H		No	ClinGen gnomAD
CA9858935 rs755990438	564	I>N		No	ClinGen ExAC
rs749293903 CA9858937	565	A>T		No	ClinGen ExAC gnomAD
CA9858938 rs746765034	567	R>C		No	ClinGen ExAC gnomAD
rs1220840032 CA409027102	567	R>H		No	ClinGen TOPMed
COSM1326740 rs146548575 CA314493408	574	I>M	ovary [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs746072513 CA9858940	574	I>V		No	ClinGen ExAC gnomAD
rs1568748367 CA409027159	576	T>A		No	ClinGen Ensembl
rs760849063 CA9858943	577	G>R		No	ClinGen ExAC TOPMed gnomAD
CA9858945 rs777273430	578	A>D		No	ClinGen ExAC gnomAD
CA409027214 rs970224315	585	V>L		No	ClinGen TOPMed gnomAD
rs970224315 COSM1220947 CA314493431	585	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA9858948 rs750791519	586	R>L		No	ClinGen ExAC gnomAD
CA409027234 rs1440474416	588	S>N		No	ClinGen gnomAD
CA409027245 rs1190049535	589	E>D		No	ClinGen gnomAD
rs767091320 CA9858950	592	V>M		No	ClinGen ExAC TOPMed gnomAD
CA409027280 rs1402027391	595	Y>H		No	ClinGen TOPMed gnomAD
CA409027290 rs1413308040 COSM1026798	596	T>M	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA9858976 rs200946488	601	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1262412405 CA409027335	601	R>W		No	ClinGen gnomAD
rs1439347953 CA409027343	602	N>S		No	ClinGen TOPMed
CA409027348 rs1452859086	603	G>E		No	ClinGen gnomAD
CA9858978 rs567064607	603	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA409027367 rs1396130906	606	Q>*		No	ClinGen gnomAD
rs1600666123 CA409027376	607	H>P		No	ClinGen Ensembl
rs1157573228 CA409027391	609	R>C		No	ClinGen gnomAD
CA9858979 rs747210988	609	R>H		No	ClinGen ExAC TOPMed gnomAD
rs755290265 CA9858980	611	H>Y		No	ClinGen ExAC gnomAD
CA9858983 rs557583302	613	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9858982 rs748259208	613	R>W		No	ClinGen ExAC TOPMed gnomAD
CA409027431 rs1250991674	615	D>E		No	ClinGen TOPMed gnomAD
CA409027430 rs1221802862	615	D>V		No	ClinGen gnomAD
rs773588801 CA9858984	616	A>D		No	ClinGen ExAC gnomAD
rs1220708873 CA409027443	617	G>E		No	ClinGen gnomAD
CA409027442 rs1220708873	617	G>V		No	ClinGen gnomAD
CA409027451 rs771177831	619	P>A		No	ClinGen ExAC TOPMed gnomAD
CA314493739 rs143541951	619	P>L		No	ClinGen ESP TOPMed gnomAD
rs771177831 CA9858986	619	P>S		No	ClinGen ExAC TOPMed gnomAD
CA9858987 rs774741585	620	K>R		No	ClinGen ExAC TOPMed gnomAD
rs760283966 CA9858988	621	F>L		No	ClinGen ExAC gnomAD
rs763762390 CA409027474	622	F>L		No	ClinGen ExAC TOPMed gnomAD
CA9858989 rs763762390	622	F>L		No	ClinGen ExAC TOPMed gnomAD
CA9858992 rs778043203	626	N>S		No	ClinGen ExAC TOPMed gnomAD
CA314493765 rs778223655	627	L>I		No	ClinGen Ensembl
CA9858994 rs575584172	628	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1399017059 CA409027537	632	L>F		No	ClinGen TOPMed gnomAD
rs1399017059 CA409027536	632	L>V		No	ClinGen TOPMed gnomAD
CA409027545 rs1299624606	633	Y>C		No	ClinGen TOPMed gnomAD
CA9858996 rs766244248	634	D>E		No	ClinGen ExAC gnomAD
rs928640071 CA314493784	636	I>V		No	ClinGen Ensembl
rs755200322 CA9858998	637	T>M		No	ClinGen ExAC TOPMed gnomAD
rs748470555 CA314493795	641	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA409027601 rs1436246375	641	Q>H		No	ClinGen TOPMed
rs748470555 CA9859000	641	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA409027598 rs1280618676	641	Q>P		No	ClinGen TOPMed
CA314493799 rs934781508	645	R>C		No	ClinGen gnomAD
rs756135063 CA9859001	645	R>H		No	ClinGen ExAC gnomAD
CA409027633 rs1181851164	647	N>D		No	ClinGen TOPMed gnomAD
CA409027674 rs1305202764	652	R>*		No	ClinGen TOPMed
CA314493812 rs1010370555	652	R>Q		No	ClinGen TOPMed gnomAD
rs1475907237 CA409027693	655	E>G		No	ClinGen gnomAD
rs1422503722 CA409027726	660	T>I		No	ClinGen gnomAD
rs774651732 CA9859005	661	N>S		No	ClinGen ExAC gnomAD
rs1234053396 CA409027808	669	Y>*		No	ClinGen gnomAD
CA9859028 rs367912334	671	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs367912334 CA314498471	671	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs181671926 CA9859029	671	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9859030 rs772546310	672	S>N		No	ClinGen ExAC gnomAD
rs372427036 CA9859031	673	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA9859032 rs770633252	674	T>S		No	ClinGen ExAC gnomAD
rs1176957493 CA409027855	677	Q>L		No	ClinGen TOPMed
CA314498489 rs995698103	678	A>G		No	ClinGen TOPMed
rs1242360409 CA409027885	681	M>I		No	ClinGen gnomAD
rs1568750067 CA409027879	681	M>V		No	ClinGen Ensembl
rs369565813 CA409027909	685	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA9859034 rs369565813	685	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs767390499 CA9859035	687	R>C		No	ClinGen ExAC gnomAD
rs752571891 CA9859036	687	R>H		No	ClinGen ExAC gnomAD
rs760762719 CA9859037	693	V>L		No	ClinGen ExAC gnomAD
rs760762719 CA409027956	693	V>M		No	ClinGen ExAC gnomAD
CA9859038 rs764393595	696	R>W		No	ClinGen ExAC
CA9859040 rs753795803	697	N>D		No	ClinGen ExAC gnomAD
CA9859041 rs757322054	697	N>S		No	ClinGen ExAC gnomAD
rs377214013 CA409027991	698	E>D		No	ClinGen ESP TOPMed
rs779018747 CA9859042	699	P>S		No	ClinGen ExAC gnomAD
rs1373660743 CA409028002	700	N>I		No	ClinGen gnomAD
CA314498519 rs559169461	702	Y>H		No	ClinGen 1000Genomes TOPMed
rs909702366 CA314498524	703	A>V		No	ClinGen TOPMed
rs1486693229 CA409028043	706	F>L		No	ClinGen gnomAD
rs780240763 CA9859045	707	R>W		No	ClinGen ExAC gnomAD
rs1392262077 CA409028086	711	K>N		No	ClinGen Ensembl
CA314498560 rs780780389	711	K>R		No	ClinGen Ensembl
rs750533169 CA9859062	716	R>C		No	ClinGen ExAC gnomAD
CA409028120 rs1194857720 COSM1565783	716	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs758853139 CA9859063	720	E>*		No	ClinGen ExAC
rs142682393 CA9859064	721	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs751804006 CA9859066	722	Q>R		No	ClinGen ExAC gnomAD
CA314498585 rs988747097	723	T>A		No	ClinGen Ensembl
rs1568750536 CA409028179	725	M>T		No	ClinGen Ensembl
CA9859068 rs201205160	728	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9859070 rs757002563	730	E>D		No	ClinGen ExAC TOPMed gnomAD
rs745389079 CA9859072	733	S>T		No	ClinGen ExAC gnomAD
rs1288638058 CA409028265	738	I>V		No	ClinGen gnomAD
rs34203315 CA409028274	739	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_025214 CA9859073 rs34203315	739	S>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA409028284 rs746975026	740	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1315663327 CA409028287	741	Y>H		No	ClinGen TOPMed
CA9859077 rs776446599	745	P>A		No	ClinGen ExAC TOPMed gnomAD
rs761980051 CA9859078	745	P>L		No	ClinGen ExAC TOPMed gnomAD
CA409028334 rs773218963	747	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA409028346 rs1568750795	749	K>N		No	ClinGen Ensembl
CA9859082 rs763022833	749	K>R		No	ClinGen ExAC gnomAD
CA409028354 rs1229106580	750	M>I		No	ClinGen gnomAD
CA9859083 rs766433841	751	K>T		No	ClinGen ExAC gnomAD
CA409028369 rs1371486341	753	R>C		No	ClinGen gnomAD
rs1568750835 CA409028372	753	R>H		No	ClinGen Ensembl
CA9859086 rs370709447	758	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs769279019 CA314498613	759	E>A		No	ClinGen Ensembl
rs753134987 CA9859087	764	I>T		No	ClinGen ExAC TOPMed gnomAD
CA9859106 rs764613972	769	P>L		No	ClinGen ExAC TOPMed gnomAD
CA9859108 rs200112083	772	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1343930332 CA409028524	774	L>P		No	ClinGen TOPMed
rs767507889 CA9859109	778	R>C		No	ClinGen ExAC gnomAD
CA314499102 rs1027449153	778	R>H		No	ClinGen Ensembl
CA9859110 rs751051268	779	N>I		No	ClinGen ExAC gnomAD
rs754886850 CA9859111	780	P>L		No	ClinGen ExAC gnomAD
rs781112491 CA9859112	788	P>A		No	ClinGen ExAC gnomAD
CA409028617 rs748148199	788	P>L		No	ClinGen ExAC TOPMed gnomAD
rs748148199 CA9859113	788	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1365091965 CA409028638	791	T>I		No	ClinGen TOPMed gnomAD
CA409028649 rs1428887863	793	K>Q		No	ClinGen TOPMed
rs779002713 CA9859136	794	C>W		No	ClinGen ExAC gnomAD
CA409028676 rs1483696942	795	A>S		No	ClinGen gnomAD
CA9859137 rs746162548	795	A>V		No	ClinGen ExAC gnomAD
CA409028696 rs1475896781	798	A>V		No	ClinGen TOPMed gnomAD
rs1426555662 CA409028737	804	A>T		No	ClinGen gnomAD
COSM1307392 rs1434096207 CA409028774	809	E>K	urinary_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
rs753381 CA409028804	813	I>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9859142 VAR_011908 rs753381	813	I>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs202246756 CA314499523	816	A>P		No	ClinGen 1000Genomes gnomAD
CA314499520 rs202246756	816	A>T		No	ClinGen 1000Genomes gnomAD
CA9859144 rs765697492	817	I>V		No	ClinGen ExAC gnomAD
rs1213005459 CA409028847	819	Q>H		No	ClinGen gnomAD
CA409028852 rs1300317847	820	N>S		No	ClinGen gnomAD
CA409028865 rs1568753476	822	E>A		No	ClinGen Ensembl
rs1343317065 CA409028897	826	G>E		No	ClinGen gnomAD
rs781381356 CA9859179	830	R>*		No	ClinGen ExAC gnomAD
rs748571525 CA9859180	830	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1311007779 CA409028957	833	Y>C		No	ClinGen TOPMed
rs993673058 CA314499663	834	G>R		No	ClinGen Ensembl
CA409028977 rs1231040166	836	K>R		No	ClinGen TOPMed gnomAD
CA9859183 rs749659066	837	K>Q		No	ClinGen ExAC gnomAD
CA409028988 rs1184380929	838	Q>E		No	ClinGen gnomAD
CA409028998 rs1427847223	839	L>P		No	ClinGen TOPMed
rs1600671062 CA409029011	841	F>V		No	ClinGen Ensembl
CA409029045 rs1393342515	846	V>M		No	ClinGen gnomAD
CA9859188 rs776240478	847	E>D		No	ClinGen ExAC gnomAD
CA9859187 rs768024018	847	E>K		No	ClinGen ExAC gnomAD
CA409029076 rs1366562120	850	V>F		No	ClinGen TOPMed
rs1412196535 CA409029085	851	N>S		No	ClinGen TOPMed gnomAD
CA9859191 rs371221687	852	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1231137229 CA409029092	852	P>L		No	ClinGen TOPMed gnomAD
CA409029089 rs371221687	852	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs753634028 CA9859194	853	V>L		No	ClinGen ExAC TOPMed gnomAD
rs753634028 CA9859193	853	V>M		No	ClinGen ExAC TOPMed gnomAD
rs781084860 CA9859196	856	E>D		No	ClinGen ExAC gnomAD
rs1270828231 CA409029109	856	E>Q		No	ClinGen gnomAD
rs902662969 CA314499689	856	E>V		No	ClinGen TOPMed
rs754568498 CA9859197	857	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1205774477 CA409029114	857	P>T		No	ClinGen gnomAD
CA314499706 rs535930903	860	E>K		No	ClinGen TOPMed gnomAD
CA314499705 rs535930903	860	E>Q		No	ClinGen TOPMed gnomAD
CA9859224 rs759131687	861	H>R		No	ClinGen ExAC gnomAD
CA314499902 rs367760831	864	E>D		No	ClinGen ESP
rs772887861 CA9859227	864	E>K		No	ClinGen ExAC gnomAD
rs749196236 CA9859228	865	N>D		No	ClinGen ExAC gnomAD
CA409029189 rs1345802894	866	S>N		No	ClinGen gnomAD
CA9859229 rs771006910	873	R>P		No	ClinGen ExAC gnomAD
CA9859230 rs371242782	875	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs371242782 CA9859231	875	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA409029261 rs994632783	878	V>L		No	ClinGen TOPMed gnomAD
CA314499918 rs994632783	878	V>M		No	ClinGen TOPMed gnomAD
CA314499920 rs1013780777	879	P>Q		No	ClinGen Ensembl
rs1568754735 CA409029272	880	A>T		No	ClinGen Ensembl
CA409029275 rs1452365747	880	A>V		No	ClinGen gnomAD
rs192103227 CA9859233	881	C>F		No	ClinGen ExAC gnomAD
rs764317275 CA9859254	885	I>T		No	ClinGen ExAC gnomAD
rs548697219 CA9859255	886	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9859256 rs761873798	886	R>H		No	ClinGen ExAC TOPMed gnomAD
CA409029345 rs1600672918	889	G>D		No	ClinGen Ensembl
rs1568755458 COSM1713469 CA409029350	890	K>R	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA9859258 rs750917506	891	N>S		No	ClinGen ExAC gnomAD
CA9859259 rs763408762	893	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1457168338 CA409029386	895	F>L		No	ClinGen TOPMed
CA9859261 COSM362125 rs146143589	896	V>I	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1302521853 CA409029399	897	F>L		No	ClinGen gnomAD
rs560952244 CA9859262	898	S>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA9859264 COSM3707759 rs753604451	899	I>V	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs756808262 CA9859265	901	M>T		No	ClinGen ExAC TOPMed gnomAD
rs140033921 CA9859266	902	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9859268 rs200504048 COSM3841006	903	S>L	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA409029433 rs1483109400	903	S>P		No	ClinGen gnomAD
rs768502816 CA9859271	911	V>I		No	ClinGen ExAC gnomAD
rs1447361215 CA409029501	913	A>V		No	ClinGen gnomAD
CA9859273 rs151282703	914	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA9859274 rs139300703	916	Q>E		No	ClinGen ESP TOPMed
CA409029522 rs1433995775	917	E>K		No	ClinGen gnomAD
CA9859277 rs773195630	918	E>*		No	ClinGen ExAC TOPMed gnomAD
CA409029534 rs1303575943	918	E>D		No	ClinGen gnomAD
CA9859278 rs763467776	918	E>V		No	ClinGen ExAC TOPMed gnomAD
CA409029556 rs532227063	921	D>E		No	ClinGen 1000Genomes ExAC gnomAD
CA409029571 rs1600673139	923	V>G		No	ClinGen Ensembl
CA409029568 rs1320033776	923	V>L		No	ClinGen gnomAD
CA409029584 rs1324516631 COSM443823	925	K>R	breast [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs948493012 CA314500267	926	I>M		No	ClinGen TOPMed
rs759966114 CA9859281	927	R>C		No	ClinGen ExAC gnomAD
rs759966114 CA9859282	927	R>G		No	ClinGen ExAC gnomAD
CA409029595 rs1219131661	927	R>H		No	ClinGen gnomAD
rs370780207 CA9859284	930	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA9859285 rs778440987	932	T>A		No	ClinGen ExAC gnomAD
rs747002949 CA9859290	935	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1190320310 CA409029644	935	A>T		No	ClinGen gnomAD
rs747002949 CA9859289	935	A>V		No	ClinGen ExAC TOPMed gnomAD
CA409029669 rs1298190466	937	L>F		No	ClinGen TOPMed
rs768874263 CA9859346	942	I>M		No	ClinGen ExAC gnomAD
rs1294493402 CA409029704	942	I>T		No	ClinGen TOPMed gnomAD
rs946321439 CA314501223	942	I>V		No	ClinGen TOPMed
rs1038755493 CA314501232	945	R>Q		No	ClinGen gnomAD
CA409029723 rs557681742	945	R>W		No	ClinGen 1000Genomes TOPMed
CA314501240 rs2235361	949	I>T		No	ClinGen Ensembl
CA409029765 rs1393992845	951	L>P		No	ClinGen gnomAD
rs1335704166 CA409029776	953	L>V		No	ClinGen gnomAD
CA9859350 rs770584685	958	V>I		No	ClinGen ExAC gnomAD
CA9859352 rs759043015	961	R>L		No	ClinGen ExAC gnomAD
CA409029829 rs1229040943	961	R>W		No	ClinGen gnomAD
CA409029845 rs1198964093	964	P>A		No	ClinGen TOPMed gnomAD
rs904207493 CA314501259	964	P>R		No	ClinGen TOPMed
rs767063086 CA9859353	965	F>Y		No	ClinGen ExAC gnomAD
CA9859354 rs752544771	966	D>H		No	ClinGen ExAC gnomAD
rs1451938103 CA409029877	968	E>D		No	ClinGen gnomAD
rs1367264763 CA409029903	970	I>T		No	ClinGen gnomAD
CA409029906 rs1346223589	971	G>S		No	ClinGen gnomAD
CA9859380 rs758728704	973	E>Q		No	ClinGen ExAC gnomAD
rs369773324 CA314501380	974	R>C		No	ClinGen ESP gnomAD
rs779952394 CA9859381	974	R>H		No	ClinGen ExAC gnomAD
rs781720749 CA9859384	978	R>Q		No	ClinGen ExAC gnomAD
CA9859383 COSM1026803 rs755375534	978	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA409029968 rs1482411338	980	M>I		No	ClinGen gnomAD
rs1179597197 CA409029976	981	S>L		No	ClinGen gnomAD
COSM1411798 CA409029995 rs1413662803	984	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA409030048 rs33943601	991	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA409030047 rs33943601	991	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA409030051 rs1366483266	992	V>L		No	ClinGen TOPMed gnomAD
CA9859388 rs745473787	993	N>S		No	ClinGen ExAC TOPMed gnomAD
CA314501410 rs1022943561	996	K>R		No	ClinGen TOPMed
rs1600677139 CA409030084	997	G>R		No	ClinGen Ensembl
CA409030088 rs1392638762	997	G>V		No	ClinGen TOPMed gnomAD
CA9859389 rs771723088	998	K>R		No	ClinGen ExAC gnomAD
rs374417553 CA9859390	1002	Q>R		No	ClinGen ESP ExAC gnomAD
CA9859391 rs746522299	1005	R>*		No	ClinGen ExAC gnomAD
CA9859392 COSM2150662 rs768105603	1005	R>Q	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA409030151 rs1200137424	1007	Q>*		No	ClinGen TOPMed
CA314501436 rs868557349 COSM1649866	1010	R>H	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
CA409030175 rs1271967868	1011	I>V		No	ClinGen TOPMed
CA409030188 rs1228278219	1012	Y>*		No	ClinGen TOPMed
rs1248825697 CA409030186	1012	Y>C		No	ClinGen gnomAD
rs773166604 CA9859396	1017	R>*		No	ClinGen ExAC gnomAD
CA314501449 rs981377278	1022	N>S		No	ClinGen Ensembl
CA409030264 rs1164156801	1024	D>A		No	ClinGen gnomAD
rs1449132589 CA409030262	1024	D>H		No	ClinGen TOPMed
rs1389431953 CA409030290	1028	M>L		No	ClinGen gnomAD
CA9859399 rs751797870	1030	I>L		No	ClinGen ExAC TOPMed gnomAD
rs1166843139 CA409030324	1032	G>A		No	ClinGen gnomAD
CA9859400 rs755073893	1034	Q>H		No	ClinGen ExAC gnomAD
CA409030343 rs1443213731	1035	L>F		No	ClinGen gnomAD
rs1377465772 CA409030353	1037	A>T		No	ClinGen gnomAD
CA409030399 rs753162829	1043	P>H		No	ClinGen ExAC TOPMed
CA9859402 rs753162829	1043	P>R		No	ClinGen ExAC TOPMed
rs776039101 CA9859412	1044	D>E		No	ClinGen ExAC gnomAD
CA314501507 rs761180325	1045	K>*		No	ClinGen Ensembl
CA409030427 rs1337870022	1046	P>A		No	ClinGen gnomAD
rs1039804124 CA314501512	1047	M>V		No	ClinGen TOPMed gnomAD
rs748052944 CA9859413	1048	Q>H		No	ClinGen ExAC gnomAD
rs769868213 CA9859414	1051	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs769868213 CA409030464	1051	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs1160196775 CA409030471	1052	A>T		No	ClinGen TOPMed
rs1362069443 CA409030492	1055	M>V		No	ClinGen gnomAD
CA9859416 rs540329986	1056	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA409030508 rs1325302016	1057	G>D		No	ClinGen gnomAD
rs1386812216 CA409030519	1059	H>Y		No	ClinGen TOPMed gnomAD
CA409030530 rs1203889521	1060	C>S		No	ClinGen gnomAD
CA409030544 rs1463335643	1062	Y>C		No	ClinGen gnomAD
rs767583581 CA9859420	1063	V>M		No	ClinGen ExAC TOPMed gnomAD
CA409030571 rs1284363393	1066	P>R		No	ClinGen TOPMed
rs1423140208 CA409030574	1067	S>R		No	ClinGen gnomAD
rs754398342 CA9859424	1068	T>A		No	ClinGen ExAC gnomAD
rs1388379998 CA409030591	1069	M>I		No	ClinGen gnomAD
rs779181134 CA409030595	1070	R>L		No	ClinGen ExAC TOPMed gnomAD
rs779181134 CA9859426	1070	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs757616227 CA9859425	1070	R>W		No	ClinGen ExAC gnomAD
rs1436358486 CA409030610	1072	E>G		No	ClinGen gnomAD
CA409030629 rs147844565	1075	D>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA409030631 rs1600677753	1075	D>E		No	ClinGen Ensembl
CA409030628 rs754613938	1075	D>H		No	ClinGen ExAC TOPMed gnomAD
CA9859428 COSM1220948 rs754613938	1075	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs147844565 CA9859429	1075	D>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA409030650 rs1326858455	1078	D>G		No	ClinGen TOPMed gnomAD
rs569452086 CA9859431	1078	D>H		No	ClinGen 1000Genomes ExAC gnomAD
rs777841676 CA9859432	1082	L>P		No	ClinGen ExAC gnomAD
rs200475218 CA9859433	1083	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200475218 CA9859434	1083	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs370818638 CA9859435	1083	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA409030688 rs1600677817	1084	G>E		No	ClinGen Ensembl
CA9859437 rs772187447	1084	G>R		No	ClinGen ExAC TOPMed gnomAD
CA409030687 rs772187447	1084	G>W		No	ClinGen ExAC TOPMed gnomAD
CA409030691 rs1200444152	1085	L>M		No	ClinGen gnomAD
CA314501590 rs866921241	1086	E>K		No	ClinGen Ensembl
rs760727490 CA9859439	1088	C>R		No	ClinGen ExAC gnomAD
CA9859441 rs764204467	1089	A>D		No	ClinGen ExAC gnomAD
rs764204467 CA9859440	1089	A>V		No	ClinGen ExAC gnomAD
rs762261510 CA409030726	1090	I>M		No	ClinGen ExAC TOPMed gnomAD
rs571302327 CA314501610	1091	S>C		No	ClinGen 1000Genomes ExAC TOPMed
rs571302327 CA9859444	1091	S>F		No	ClinGen 1000Genomes ExAC TOPMed
rs551399698 CA9859443	1091	S>T		No	ClinGen 1000Genomes ExAC TOPMed
CA409030731 rs529420619	1092	I>F		No	ClinGen ExAC TOPMed gnomAD
rs780988598 CA9859446	1092	I>T		No	ClinGen ExAC gnomAD
rs529420619 CA9859445	1092	I>V		No	ClinGen ExAC TOPMed gnomAD
CA409030757 rs1401103394	1094	V>L		No	ClinGen gnomAD
rs1467882588 CA409030774	1097	A>S		No	ClinGen gnomAD
CA9859471 rs777359820	1098	R>*		No	ClinGen ExAC gnomAD
rs1057393821 CA314501909	1098	R>Q		No	ClinGen gnomAD
CA409030783 rs1434282778	1099	H>Y		No	ClinGen gnomAD
rs753292604 CA9859472	1101	P>L		No	ClinGen ExAC
rs186053167 CA314501914	1105	R>L		No	ClinGen 1000Genomes
rs1324796038 CA409030835	1107	I>T		No	ClinGen gnomAD
CA409030838 rs1338993174	1108	V>M		No	ClinGen TOPMed
CA409030863 rs1270824169	1111	F>S		No	ClinGen gnomAD
rs1344651142 CA409030874	1113	E>*		No	ClinGen gnomAD
CA9859475 rs143441069	1114	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA409030888 rs1202009282	1115	E>*		No	ClinGen gnomAD
rs1265393984 CA409030891	1115	E>A		No	ClinGen gnomAD
rs1265393984 CA409030889	1115	E>V		No	ClinGen gnomAD
CA409030945 rs1430776876	1123	S>N		No	ClinGen TOPMed gnomAD
rs1376556460 CA409030975	1127	K>T		No	ClinGen gnomAD
rs758154408 CA9859477	1131	V>M		No	ClinGen ExAC gnomAD
rs1265321355 CA409031025	1133	D>N		No	ClinGen gnomAD
rs759963996 CA9859509	1134	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1600679227 CA409031047	1136	L>F		No	ClinGen Ensembl
CA9859510 rs767972387	1137	N>T		No	ClinGen ExAC TOPMed gnomAD
rs1482562318 CA409031063	1138	P>L		No	ClinGen TOPMed gnomAD
rs1482562318 CA409031062	1138	P>R		No	ClinGen TOPMed gnomAD
rs1175054740 CA409031118	1146	H>R		No	ClinGen gnomAD
rs1346167097 CA409031131	1148	Q>E		No	ClinGen gnomAD
CA9859511 rs776114304	1148	Q>H		No	ClinGen ExAC gnomAD
CA9859512 rs761555687	1149	I>T		No	ClinGen ExAC gnomAD
CA314502038 rs148020473	1152	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA9859513 rs148020473	1152	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA314502035 rs148020473	1152	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs749966647 CA9859514	1154	F>L		No	ClinGen ExAC gnomAD
rs751559277 CA9859517	1158	R>C		No	ClinGen ExAC gnomAD
rs141684852 CA9859518	1158	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751559277 CA409031196	1158	R>S		No	ClinGen ExAC gnomAD
CA409031207 rs150104210	1159	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9859520 rs752822598	1160	V>M		No	ClinGen ExAC gnomAD
rs756381860 CA9859521	1161	V>M		No	ClinGen ExAC TOPMed gnomAD
CA409031219 rs1310352577	1162	Y>H		No	ClinGen gnomAD
CA9859523 rs749374348	1163	E>D		No	ClinGen ExAC gnomAD
rs771191111 CA9859524	1167	F>I		No	ClinGen ExAC
CA409031321 rs1209397385	1175	Q>L		No	ClinGen gnomAD
CA409031324 rs1261062399	1176	A>T		No	ClinGen gnomAD
rs758660256 CA314502076	1178	F>L		No	ClinGen Ensembl
rs367859184 CA9859525	1178	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA409031377 rs1568760400	1184	K>M		No	ClinGen Ensembl
CA409031385 rs1568760414	1185	T>I		No	ClinGen Ensembl
rs138431024 CA9859527	1185	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1488630489 CA409031408	1187	Y>C		No	ClinGen gnomAD
rs1311998124 CA409031453	1194	N>D		No	ClinGen Ensembl
CA9859554 rs759335016	1195	N>S		No	ClinGen ExAC TOPMed gnomAD
CA409031463 rs759335016	1195	N>T		No	ClinGen ExAC TOPMed gnomAD
rs1267089878 CA409031462	1195	N>Y		No	ClinGen gnomAD
rs561326901 CA9859555	1197	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA9859557 rs760496645	1201	E>Q		No	ClinGen ExAC gnomAD
CA409031522 rs1318448095	1203	A>D		No	ClinGen gnomAD
CA409031521 rs1318448095	1203	A>V		No	ClinGen gnomAD
rs994698972 CA314502198	1208	K>R		No	ClinGen Ensembl
rs757572205 CA9859560	1209	I>T		No	ClinGen ExAC TOPMed gnomAD
rs200775105 CA9859559	1209	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs765347809 CA9859561	1211	I>T		No	ClinGen ExAC gnomAD
rs1405176100 CA409031567	1211	I>V		No	ClinGen gnomAD
CA9859562 rs750517696	1212	F>L		No	ClinGen ExAC gnomAD
CA9859564 rs780599302	1214	A>T		No	ClinGen ExAC gnomAD
rs1033752905 CA314502216	1214	A>V		No	ClinGen TOPMed gnomAD
rs1358610077 CA409031593	1215	K>R		No	ClinGen gnomAD
rs756527806 CA9859586	1217	N>S		No	ClinGen ExAC gnomAD
CA409031640 rs1472818178	1219	D>G		No	ClinGen gnomAD
CA409031641 rs1472818178	1219	D>V		No	ClinGen gnomAD
CA9859588 rs146160873	1220	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA9859589 rs771570558	1221	S>G		No	ClinGen ExAC gnomAD
rs1411286372 CA409031653	1221	S>I		No	ClinGen gnomAD
rs774881448 CA9859590	1223	F>L		No	ClinGen ExAC gnomAD
CA9859591 rs535997909	1223	F>L		No	ClinGen 1000Genomes ExAC gnomAD
COSM3291407 rs768717121 CA9859592	1226	T>M	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1385119871 CA409031692	1227	S>F		No	ClinGen gnomAD
CA9859596 rs773456489	1229	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9859595 rs769763292	1229	R>W		No	ClinGen ExAC TOPMed gnomAD
rs763120110 CA9859597	1230	E>Q		No	ClinGen ExAC gnomAD
CA409031709 rs201677341	1231	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA9859599 rs201677341	1231	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA9859598 rs766434623	1231	R>W		No	ClinGen ExAC gnomAD
rs1298615720 CA409031711	1232	G>S		No	ClinGen gnomAD
CA409031723 rs1245554902	1234	D>N		No	ClinGen gnomAD
CA409031739 rs1443480534	1236	S>P		No	ClinGen gnomAD
CA9859601 rs768009894	1241	H>R		No	ClinGen ExAC gnomAD
CA409031777 rs1170870807	1242	G>S		No	ClinGen gnomAD
rs756437887 COSM443825 CA9859603	1243	R>*	endometrium breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA314502344 rs199859278	1243	R>Q		No	ClinGen gnomAD
CA9859604 rs144676152	1244	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750042405 CA9859605	1245	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1381565968 CA409031792	1245	R>W		No	ClinGen TOPMed gnomAD
rs1324703713 CA409031795	1246	E>K		No	ClinGen gnomAD
rs1433183455 CA409031803	1247	G>S		No	ClinGen gnomAD
rs1397975115 CA409031834	1251	S>Y		No	ClinGen TOPMed
CA9859608 rs192373574	1252	R>C		No	ClinGen 1000Genomes ExAC gnomAD
rs565097087 COSM443826 CA9859609	1252	R>H	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1161990776 CA409031845	1253	Y>C		No	ClinGen TOPMed
rs1346417656 CA409031842	1253	Y>H		No	ClinGen TOPMed gnomAD
rs781256647 CA409031852	1254	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs781256647 CA9859611	1254	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1386154112 CA409031860	1255	Q>R		No	ClinGen TOPMed
rs1035095665 CA314502375	1256	P>L		No	ClinGen TOPMed gnomAD
CA409031878 rs1267782295	1258	E>K		No	ClinGen gnomAD
CA9859614 rs200825598	1260	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs200825598 CA409031902	1260	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs771065174 CA9859616	1261	R>C		No	ClinGen ExAC TOPMed gnomAD
rs774703045 CA9859617 COSM187517	1261	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs767621414 CA9859619	1264	Q>H		No	ClinGen ExAC
CA409031976 rs1421642792	1266	H>R		No	ClinGen gnomAD
rs761191435 CA9859621	1268	A>T		No	ClinGen ExAC TOPMed gnomAD
CA9859622 rs764457289	1268	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1331979401 CA409032016	1270	H>D		No	ClinGen TOPMed gnomAD
CA409032024 rs1307040957	1270	H>Q		No	ClinGen TOPMed
CA9859623 rs754154099	1270	H>R		No	ClinGen ExAC gnomAD
rs1331979401 CA409032018	1270	H>Y		No	ClinGen TOPMed gnomAD
CA9859624 rs757704353	1271	F>S		No	ClinGen ExAC gnomAD
CA409032069 rs1353426723	1274	R>G		No	ClinGen gnomAD
COSM1026808 CA9859625 rs372257814	1274	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA409032085 rs1489758400	1275	E>G		No	ClinGen gnomAD
CA409032079 rs1290380366	1275	E>Q		No	ClinGen gnomAD
rs1201052162 CA409032092	1276	R>*		No	ClinGen gnomAD
CA9859626 rs764642255	1276	R>L		No	ClinGen ExAC TOPMed gnomAD
CA409032153 rs1448184085	1278	A>T		No	ClinGen gnomAD
CA409032173 rs1568761694	1279	P>L		No	ClinGen Ensembl
CA314502506 rs1048844791	1280	R>G		No	ClinGen Ensembl
CA409032199 rs1381186813	1281	R>S		No	ClinGen gnomAD
rs1229586399 CA409032216	1283	R>Q		No	ClinGen gnomAD
CA9859646 rs751219700	1286	G>E		No	ClinGen ExAC gnomAD
CA9859648 rs767078234	1287	D>G		No	ClinGen ExAC gnomAD
CA9859649 rs752260219	1288	N>D		No	ClinGen ExAC TOPMed gnomAD
CA409032280 rs1202988725	1288	N>K		No	ClinGen gnomAD
CA409032278 rs1458010026	1288	N>S		No	ClinGen TOPMed gnomAD
CA409032276 rs1458010026	1288	N>T		No	ClinGen TOPMed gnomAD
rs755718394 CA9859650	1289	R>C		No	ClinGen ExAC gnomAD
CA9859651 rs777560654	1289	R>H		No	ClinGen ExAC gnomAD
rs1183727614 CA409032295	1290	L>F		No	ClinGen gnomAD

No associated diseases with P19174

13 regional properties for P19174

Type	Name	Position	InterPro Accession
domain	C2 domain	1071 - 1194	IPR000008
domain	Phosphatidylinositol-specific phospholipase C, X domain	320 - 465	IPR000909
domain	SH2 domain	548 - 657	IPR000980-1
domain	SH2 domain	666 - 756	IPR000980-2
domain	SH3 domain	791 - 851	IPR001452
domain	Phospholipase C, phosphatidylinositol-specific, Y domain	953 - 1070	IPR001711
domain	Pleckstrin homology domain	27 - 144	IPR001849-1
domain	Pleckstrin homology domain	489 - 680	IPR001849-2
domain	Pleckstrin homology domain	804 - 933	IPR001849-3
binding_site	EF-Hand 1, calcium-binding site	165 - 177	IPR018247
domain	PLC-gamma, C-terminal SH2 domain	663 - 765	IPR035023
domain	PLC-gamma, N-terminal SH2 domain	545 - 649	IPR035024
domain	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1, SH3 domain	791 - 850	IPR035724

Functions

		Description
EC Number	3.1.4.11	Phosphoric diester hydrolases
Subcellular Localization	Cell projection, lamellipodium Cell projection, ruffle	Rapidly redistributed to ruffles and lamellipodia structures in response to epidermal growth factor (EGF) treatment
PANTHER Family	PTHR10336	PHOSPHOINOSITIDE-SPECIFIC PHOSPHOLIPASE C FAMILY PROTEIN
PANTHER Subfamily	PTHR10336:SF173	1-PHOSPHATIDYLINOSITOL 4,5-BISPHOSPHATE PHOSPHODIESTERASE GAMMA-1
PANTHER Protein Class	phospholipase
PANTHER Pathway Category	VEGF signaling pathway PLC-gamma Inflammation mediated by chemokine and cytokine signaling pathway PLCbetagamma FGF signaling pathway PLCgamma Axon guidance mediated by netrin Phospholipase C Thyrotropin-releasing hormone receptor signaling pathway PLC Angiogenesis PLC-gamma EGF receptor signaling pathway PLCgamma PDGF signaling pathway PLCgamma T cell activation PLC-gamma Oxytocin receptor mediated signaling pathway PLC beta Histamine H1 receptor mediated signaling pathway PLC 5HT2 type receptor mediated signaling pathway PLC CCKR signaling map PLCgamma1

8 GO annotations of cellular component

Name	Definition
cell projection	A prolongation or process extending from a cell, e.g. a flagellum or axon.
COP9 signalosome	A protein complex that catalyzes the deneddylation of proteins, including the cullin component of SCF ubiquitin E3 ligase; deneddylation increases the activity of cullin family ubiquitin ligases. The signalosome is involved in many regulatory process, including some which control development, in many species; also regulates photomorphogenesis in plants; in many species its subunits are highly similar to those of the proteasome.
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.
lamellipodium	A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
ruffle	Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork.
ruffle membrane	The portion of the plasma membrane surrounding a ruffle.

6 GO annotations of molecular function

Name	Definition
calcium ion binding	Binding to a calcium ion (Ca2+).
calcium-dependent phospholipase C activity	Catalysis of the reaction: a phosphatidylcholine + H2O = 1,2-diacylglycerol + choline phosphate. This reaction requires Ca2+.
neurotrophin TRKA receptor binding	Binding to a neurotrophin TRKA receptor.
phosphatidylinositol phospholipase C activity	Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1,2-diacylglycerol + 1D-myo-inositol 1,4,5-trisphosphate + H(+).
phospholipase C activity	Catalysis of the reaction: a phospholipid + H2O = 1,2-diacylglycerol + a phosphatidate.
protein kinase binding	Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.

15 GO annotations of biological process

Name	Definition
calcium-mediated signaling	Any intracellular signal transduction in which the signal is passed on within the cell via calcium ions.
cell migration	The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms.
cellular response to epidermal growth factor stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an epidermal growth factor stimulus.
epidermal growth factor receptor signaling pathway	The series of molecular signals initiated by binding of a ligand to the tyrosine kinase receptor EGFR (ERBB1) on the surface of a cell. The pathway ends with regulation of a downstream cellular process, e.g. transcription.
Fc-epsilon receptor signaling pathway	The series of molecular signals initiated by the binding of the Fc portion of immunoglobulin E (IgE) to an Fc-epsilon receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. The Fc portion of an immunoglobulin is its C-terminal constant region.
negative regulation of inflammatory response to antigenic stimulus	Any process that stops, prevents, or reduces the frequency, rate, or extent of an inflammatory response to an antigenic stimulus.
phosphatidylinositol metabolic process	The chemical reactions and pathways involving phosphatidylinositol, any glycophospholipid in which a sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol.
phospholipid catabolic process	The chemical reactions and pathways resulting in the breakdown of phospholipids, any lipid containing phosphoric acid as a mono- or diester.
positive regulation of angiogenesis	Any process that activates or increases angiogenesis.
positive regulation of blood vessel endothelial cell migration	Any process that activates or increases the frequency, rate or extent of the migration of the endothelial cells of blood vessels.
positive regulation of endothelial cell apoptotic process	Any process that activates or increases the frequency, rate or extent of endothelial cell apoptotic process.
positive regulation of epithelial cell migration	Any process that activates or increases the frequency, rate or extent of epithelial cell migration.
positive regulation of release of sequestered calcium ion into cytosol	Any process that activates or increases the frequency, rate or extent of the release into the cytosolic compartment of calcium ions sequestered in the endoplasmic reticulum or mitochondria.
positive regulation of vascular endothelial cell proliferation	Any process that activates or increases the frequency, rate or extent of vascular endothelial cell proliferation.
T cell receptor signaling pathway	The series of molecular signals initiated by the cross-linking of an antigen receptor on a T cell.

23 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P08487	PLCG1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1	Bos taurus (Bovine)	EV SS
Q15111	PLCL1	Inactive phospholipase C-like protein 1	Homo sapiens (Human)	PR
Q9UPR0	PLCL2	Inactive phospholipase C-like protein 2	Homo sapiens (Human)	PR
Q86YW0	PLCZ1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1	Homo sapiens (Human)	PR
Q8N3E9	PLCD3	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3	Homo sapiens (Human)	SS
Q9BRC7	PLCD4	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4	Homo sapiens (Human)	SS
P16885	PLCG2	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2	Homo sapiens (Human)	SS
Q00722	PLCB2	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2	Homo sapiens (Human)	EV
Q01970	PLCB3	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3	Homo sapiens (Human)	EV
Q9NQ66	PLCB1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1	Homo sapiens (Human)	EV
Q9P212	PLCE1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1	Homo sapiens (Human)	SS
P51178	PLCD1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1	Homo sapiens (Human)	EV
Q15147	PLCB4	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4	Homo sapiens (Human)	PR
Q62077	Plcg1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1	Mus musculus (Mouse)	SS
P24135	Plcg2	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2	Rattus norvegicus (Rat)	SS
P10686	Plcg1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1	Rattus norvegicus (Rat)	EV
Q39032	PLC1	Phosphoinositide phospholipase C 1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q56W08	PLC3	Phosphoinositide phospholipase C 3	Arabidopsis thaliana (Mouse-ear cress)	PR
Q6NMA7	PLC9	Phosphoinositide phospholipase C 9	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8GV43	PLC6	Phosphoinositide phospholipase C 6	Arabidopsis thaliana (Mouse-ear cress)	PR
Q944C2	PLC5	Phosphoinositide phospholipase C 5	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9STZ3	PLC8	Phosphoinositide phospholipase C 8	Arabidopsis thaliana (Mouse-ear cress)	PR
Q944C1	PLC4	Phosphoinositide phospholipase C 4	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MAGAASPCAN	GCGPGAPSDA	EVLHLCRSLE	VGTVMTLFYS	KKSQRPERKT	FQVKLETRQI
70	80	90	100	110	120
TWSRGADKIE	GAIDIREIKE	IRPGKTSRDF	DRYQEDPAFR	PDQSHCFVIL	YGMEFRLKTL
130	140	150	160	170	180
SLQATSEDEV	NMWIKGLTWL	MEDTLQAPTP	LQIERWLRKQ	FYSVDRNRED	RISAKDLKNM
190	200	210	220	230	240
LSQVNYRVPN	MRFLRERLTD	LEQRSGDITY	GQFAQLYRSL	MYSAQKTMDL	PFLEASTLRA
250	260	270	280	290	300
GERPELCRVS	LPEFQQFLLD	YQGELWAVDR	LQVQEFMLSF	LRDPLREIEE	PYFFLDEFVT
310	320	330	340	350	360
FLFSKENSVW	NSQLDAVCPD	TMNNPLSHYW	ISSSHNTYLT	GDQFSSESSL	EAYARCLRMG
370	380	390	400	410	420
CRCIELDCWD	GPDGMPVIYH	GHTLTTKIKF	SDVLHTIKEH	AFVASEYPVI	LSIEDHCSIA
430	440	450	460	470	480
QQRNMAQYFK	KVLGDTLLTK	PVEISADGLP	SPNQLKRKIL	IKHKKLAEGS	AYEEVPTSMM
490	500	510	520	530	540
YSENDISNSI	KNGILYLEDP	VNHEWYPHYF	VLTSSKIYYS	EETSSDQGNE	DEEEPKEVSS
550	560	570	580	590	600
STELHSNEKW	FHGKLGAGRD	GRHIAERLLT	EYCIETGAPD	GSFLVRESET	FVGDYTLSFW
610	620	630	640	650	660
RNGKVQHCRI	HSRQDAGTPK	FFLTDNLVFD	SLYDLITHYQ	QVPLRCNEFE	MRLSEPVPQT
670	680	690	700	710	720
NAHESKEWYH	ASLTRAQAEH	MLMRVPRDGA	FLVRKRNEPN	SYAISFRAEG	KIKHCRVQQE
730	740	750	760	770	780
GQTVMLGNSE	FDSLVDLISY	YEKHPLYRKM	KLRYPINEEA	LEKIGTAEPD	YGALYEGRNP
790	800	810	820	830	840
GFYVEANPMP	TFKCAVKALF	DYKAQREDEL	TFIKSAIIQN	VEKQEGGWWR	GDYGGKKQLW
850	860	870	880	890	900
FPSNYVEEMV	NPVALEPERE	HLDENSPLGD	LLRGVLDVPA	CQIAIRPEGK	NNRLFVFSIS
910	920	930	940	950	960
MASVAHWSLD	VAADSQEELQ	DWVKKIREVA	QTADARLTEG	KIMERRKKIA	LELSELVVYC
970	980	990	1000	1010	1020
RPVPFDEEKI	GTERACYRDM	SSFPETKAEK	YVNKAKGKKF	LQYNRLQLSR	IYPKGQRLDS
1030	1040	1050	1060	1070	1080
SNYDPLPMWI	CGSQLVALNF	QTPDKPMQMN	QALFMTGRHC	GYVLQPSTMR	DEAFDPFDKS
1090	1100	1110	1120	1130	1140
SLRGLEPCAI	SIEVLGARHL	PKNGRGIVCP	FVEIEVAGAE	YDSTKQKTEF	VVDNGLNPVW
1150	1160	1170	1180	1190	1200
PAKPFHFQIS	NPEFAFLRFV	VYEEDMFSDQ	NFLAQATFPV	KGLKTGYRAV	PLKNNYSEDL
1210	1220	1230	1240	1250	1260
ELASLLIKID	IFPAKENGDL	SPFSGTSLRE	RGSDASGQLF	HGRAREGSFE	SRYQQPFEDF
1270	1280
RISQEHLADH	FDSRERRAPR	RTRVNGDNRL