AiPD: Autoinhibited Protein Database

Q00722

Gene name	PLCB2
Protein name	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2
Names	Phosphoinositide phospholipase C-beta-2, Phospholipase C-beta-2, PLC-beta-2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5330
EC number	3.1.4.11: Phosphoric diester hydrolases
Protein Class	PHOSPHOINOSITIDE-SPECIFIC PHOSPHOLIPASE C FAMILY PROTEIN (PTHR10336)

Descriptions

PLCB2 encodes for 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2, hydrolyzes phosphatidylinositol 4,5-bisphosphate (PtdIns[4,5]P2) into the second messengers diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). Autoinhibitory region is a portion of the linker that separates the conserved X and Y boxes comprising the catalytic TIM barrel, at residues 466-537, and occludes the active site of PLCB2. Specifically, the ordered region of X/Y linker at residues 516-535 seems to fine-tune access to the active site, in which deletion of this region only gave partial activation of PLCB2. However, the disordered region of X/Y linker at residues 470-515 is the major autoinhibitory region, in which deletion of this region enhanced activity by 10-fold higher basal activity relative to the ordered region.

Autoinhibitory domains (AIDs)

Target domain	321-662 (TIM barrel)
Relief mechanism	Partner binding
Assay	Deletion assay, Mutagenesis experiment, Structural analysis

AID

466-537 (X/Y linker)

Target domain

321-662 (TIM barrel)

Relief mechanism

Partner binding (GTP-bound Rac1 binding to PH domain)

Assay

Deletion assay, Mutagenesis experiment, Structural analysis

Accessory elements

No accessory elements

References

Hicks SN et al. (2008) "General and versatile autoinhibition of PLC isozymes", Molecular cell, 31, 383-94

Autoinhibited structure

Activated structure

3 structures for Q00722

Entry ID	Method	Resolution	Chain	Position	Source
2FJU	X-ray	220 A	B	1-803	PDB
2ZKM	X-ray	162 A	X	1-803	PDB
AF-Q00722-F1	Predicted				AlphaFoldDB

1001 variants for Q00722

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs769251460 RCV000240155 CA7477927	385	K>R	Oromandibular-limb hypogenesis spectrum [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000240468 CA10586330 rs779256250	862	T>K	Oromandibular-limb hypogenesis spectrum [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA7478331 rs777521897	3	L>V		No	ClinGen ExAC gnomAD
rs1189768619 CA391724318	5	N>K		No	ClinGen gnomAD
rs755659289 CA7478330	5	N>S		No	ClinGen ExAC gnomAD
CA7478329 rs377018757	6	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391724265 rs1443171559	9	L>P		No	ClinGen gnomAD
rs780673242 CA7478328	10	P>S		No	ClinGen ExAC TOPMed gnomAD
rs780673242 CA268791174	10	P>T		No	ClinGen ExAC TOPMed gnomAD
rs754679334 CA7478327	11	P>A		No	ClinGen ExAC TOPMed gnomAD
CA391724236 rs754087627	11	P>H		No	ClinGen ExAC gnomAD
CA7478325 rs754087627	11	P>L		No	ClinGen ExAC gnomAD
CA7478326 rs754087627	11	P>R		No	ClinGen ExAC gnomAD
rs754679334 CA391724241	11	P>S		No	ClinGen ExAC TOPMed gnomAD
rs754679334 CA268791169	11	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1276946960 CA391724214	12	K>R		No	ClinGen gnomAD
CA391724199 rs1595693954	13	V>G		No	ClinGen Ensembl
rs1206105021 CA391724207	13	V>M		No	ClinGen gnomAD
rs372840660 CA7478322	15	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA268791152 rs867282438	15	A>S		No	ClinGen TOPMed
CA391724184 rs867282438	15	A>T		No	ClinGen TOPMed
CA391724161 rs1380375376	17	L>M		No	ClinGen gnomAD
CA7478321 rs764451459	18	S>G		No	ClinGen ExAC gnomAD
rs1041791318 CA268791150	20	G>A		No	ClinGen TOPMed
CA7478318 rs767693228	22	R>C		No	ClinGen ExAC TOPMed gnomAD
rs759876054 CA7478317	22	R>H		No	ClinGen ExAC TOPMed gnomAD
CA7478316 rs774673471	24	I>L		No	ClinGen ExAC gnomAD
CA7478315 rs374351563	26	W>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391723676 rs1348585918	29	E>D		No	ClinGen gnomAD
rs1412224157 CA391723691	29	E>Q		No	ClinGen gnomAD
rs1411217711 CA391723663	31	T>A		No	ClinGen TOPMed
CA391723657 rs1323459901	31	T>I		No	ClinGen gnomAD
CA391723654 rs1406386570	32	V>F		No	ClinGen gnomAD
CA7478300 rs543577992	36	V>F		No	ClinGen 1000Genomes ExAC gnomAD
rs920386791 CA268788482	39	R>C		No	ClinGen TOPMed gnomAD
CA7478299 rs767736046	39	R>H		No	ClinGen ExAC TOPMed gnomAD
CA7478298 rs759640178	41	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1453160805 CA391723508	41	D>V		No	ClinGen gnomAD
CA391723481 rs1227434514	42	P>H		No	ClinGen gnomAD
rs751843570 CA7478297	42	P>S		No	ClinGen ExAC gnomAD
CA391723474 rs1289690435	43	K>Q		No	ClinGen gnomAD
CA391723414 rs1446267232	45	Y>*		No	ClinGen TOPMed
CA391723423 rs1221214510	45	Y>C		No	ClinGen TOPMed gnomAD
CA268788474 rs747174828	46	Y>*		No	ClinGen ExAC gnomAD
CA391723401 rs1366289554	46	Y>S		No	ClinGen gnomAD
rs763227748 CA7478295	47	L>F		No	ClinGen ExAC gnomAD
CA7478294 rs148503632	48	Y>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7478293 rs148503632	48	Y>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391723310 rs1440868350	48	Y>S		No	ClinGen gnomAD
rs761699247 COSM3401700 COSM3401701 CA7478292	50	T>M	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1340330668 CA391723189	51	Y>C		No	ClinGen TOPMed
rs267604178 CA268788402	52	Q>*		No	ClinGen Ensembl
rs267604178 CA391723156	52	Q>E		No	ClinGen Ensembl
rs1389583304 CA391723119	53	S>I		No	ClinGen gnomAD
CA7478289 rs746467888	54	K>M		No	ClinGen ExAC gnomAD
CA7478266 rs770065911	56	M>I		No	ClinGen ExAC gnomAD
rs1209651285 CA391721981	56	M>L		No	ClinGen TOPMed
CA268787943 rs867436060	57	E>*		No	ClinGen Ensembl
CA391721951 rs1250120719	57	E>G		No	ClinGen TOPMed
rs1167940632 CA391721898	60	D>G		No	ClinGen gnomAD
CA7478265 rs748457503	62	T>I		No	ClinGen ExAC gnomAD
COSM961165 CA7478263 COSM961163 rs202154132	63	S>N	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1422893406 CA391721797	64	I>S		No	ClinGen gnomAD
CA268787931 rs947187703	64	I>V		No	ClinGen Ensembl
CA7478261 rs780036197	65	R>Q		No	ClinGen ExAC gnomAD
CA7478262 rs374171173	65	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs758467165 CA7478260	67	T>A		No	ClinGen ExAC TOPMed gnomAD
rs750635282 CA7478259	67	T>I		No	ClinGen ExAC gnomAD
CA391721753 rs750635282	67	T>N		No	ClinGen ExAC gnomAD
rs938166611 CA268787907	68	R>C		No	ClinGen gnomAD
rs1483629173 CA391721737	68	R>H		No	ClinGen gnomAD
rs1173818181 CA391721723	69	F>I		No	ClinGen TOPMed
rs537249891 CA7478258	71	K>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391721655 rs757053858	71	K>N		No	ClinGen ExAC TOPMed gnomAD
rs763918039 CA7478237	79	Q>R		No	ClinGen ExAC gnomAD
rs752587719 CA391721235	82	R>P		No	ClinGen ExAC TOPMed gnomAD
rs752587719 CA7478235	82	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs377506463 CA7478236	82	R>W		No	ClinGen ExAC TOPMed gnomAD
CA7478233 rs759386070	83	D>G		No	ClinGen ExAC gnomAD
rs567578673 CA7478231	84	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762731481 CA7478230	86	N>D		No	ClinGen ExAC gnomAD
CA7478228 rs57020474	86	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7478229 rs772957835	86	N>T		No	ClinGen ExAC TOPMed gnomAD
rs977440873 CA268787255	87	M>V		No	ClinGen Ensembl
rs1340715405 CA391721082	91	D>A		No	ClinGen TOPMed
CA391721093 rs1305944512	91	D>N		No	ClinGen TOPMed
CA7478226 rs775869267	94	F>L		No	ClinGen ExAC TOPMed gnomAD
CA7478225 rs199647108	95	L>R		No	ClinGen ExAC TOPMed gnomAD
CA391720904 rs1331548205	99	L>I		No	ClinGen gnomAD
rs746347719 CA7478224 COSM335407 COSM335406	100	T>M	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA391720864 rs1484277060	101	V>M		No	ClinGen TOPMed
rs770968598 CA7478222	102	V>A		No	ClinGen ExAC gnomAD
rs780624327 CA391720856	102	V>L		No	ClinGen TOPMed gnomAD
rs780624327 CA391720855	102	V>L		No	ClinGen TOPMed gnomAD
rs780624327 CA268787238	102	V>M		No	ClinGen TOPMed gnomAD
rs377094129 CA7478221	103	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs755906439 CA7478219	104	G>S		No	ClinGen ExAC gnomAD
rs752602603 CA7478218	105	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1595679204 CA391720712	109	D>A		No	ClinGen Ensembl
rs751417510 CA7478215	109	D>Y		No	ClinGen ExAC gnomAD
rs1189483819 CA391720683	110	L>P		No	ClinGen gnomAD
CA7478213 rs754490555	111	T>P		No	ClinGen ExAC TOPMed gnomAD
CA268787203 rs754490555	111	T>S		No	ClinGen ExAC TOPMed gnomAD
rs750117156 CA7478212	113	H>Y		No	ClinGen ExAC gnomAD
rs1345797799 CA391720582	114	N>S		No	ClinGen gnomAD
rs1334990193 CA391720556	115	F>S		No	ClinGen Ensembl
CA391720540 rs1169218717	116	V>I		No	ClinGen TOPMed
rs764918691 CA7478211	117	S>F		No	ClinGen ExAC TOPMed gnomAD
CA7478210 rs369766701	119	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1297420923 CA391720427	120	E>A		No	ClinGen TOPMed
CA7478206 rs549899180	122	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7478208 rs760130831	122	V>L		No	ClinGen ExAC gnomAD
rs760130831 CA7478207	122	V>M		No	ClinGen ExAC gnomAD
CA7478186 rs773325801	125	A>S		No	ClinGen ExAC gnomAD
CA391720171 rs1412034017	127	A>G		No	ClinGen gnomAD
rs748433473 CA7478184	130	V>I		No	ClinGen ExAC TOPMed gnomAD
rs748433473 CA391720140	130	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1566889458 CA391720094	134	V>G		No	ClinGen Ensembl
rs1233454134 CA391720101	134	V>I		No	ClinGen gnomAD
rs971055262 CA268787057	137	P>L		No	ClinGen TOPMed gnomAD
rs1288825080 CA391720051	138	L>V		No	ClinGen gnomAD
rs779992442 CA7478180	139	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1185915012 CA391720023	140	A>G		No	ClinGen TOPMed
CA268787039 rs901298491	141	N>D		No	ClinGen TOPMed
rs374751358 CA7478177	141	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA268787037 rs374751358	141	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1294644706 CA391719998	142	A>D		No	ClinGen TOPMed gnomAD
rs753553077 CA7478175	142	A>T		No	ClinGen ExAC gnomAD
rs1381205510 CA391719991	143	S>A		No	ClinGen gnomAD
rs1348531027 CA391719985	143	S>F		No	ClinGen gnomAD
rs867146967 CA268787029	144	R>C		No	ClinGen TOPMed
rs755783952 CA391719979	144	R>H		No	ClinGen ExAC gnomAD
rs755783952 CA391719976	144	R>L		No	ClinGen ExAC gnomAD
rs755783952 CA7478173	144	R>P		No	ClinGen ExAC gnomAD
rs201429769 CA7478171	146	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA7478170 rs371424889	148	L>M		No	ClinGen ESP ExAC gnomAD
CA7478168 rs201004233	151	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs201004233 CA7478167	151	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1245910908 CA391719807	155	L>F		No	ClinGen TOPMed gnomAD
CA268786928 rs901884369	161	S>A		No	ClinGen Ensembl
CA7478148 rs753924417	161	S>C		No	ClinGen ExAC gnomAD
CA391719718 rs1345342874	162	E>K		No	ClinGen TOPMed
CA7478146 rs761018912	165	I>M		No	ClinGen ExAC gnomAD
rs780553699 CA268786918	165	I>N		No	ClinGen Ensembl
CA7478147 rs764212031	165	I>V		No	ClinGen ExAC TOPMed gnomAD
rs775818699 CA7478145	166	P>A		No	ClinGen ExAC
CA7478144 rs150110779	166	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM386666 CA391719632 rs1434658095 COSM386667	168	K>N	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs747589835 CA7478120	174	F>L		No	ClinGen ExAC gnomAD
rs972409482 CA268786787	177	D>N		No	ClinGen Ensembl
COSM3794105 rs577044557 COSM3794106 CA7478119	178	R>C	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA7478118 rs376517913	178	R>H		No	ClinGen ExAC TOPMed gnomAD
CA7478117 rs200517392	179	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200517392 CA391719439	179	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7478114 rs749786634	180	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs374092692 CA7478115	180	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs756270743 CA7478112	181	V>M		No	ClinGen ExAC TOPMed gnomAD
rs752893865 CA7478111	183	A>D		No	ClinGen ExAC gnomAD
CA391719354 rs1314401978	184	A>T		No	ClinGen TOPMed
CA391719348 rs1235285881	184	A>V		No	ClinGen TOPMed gnomAD
rs368426531 CA7478108	187	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA7478109 rs201088044	187	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1375299957 CA391719284	188	C>Y		No	ClinGen gnomAD
rs375056203 CA7478106	190	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA391719241 rs1394841567	191	P>S		No	ClinGen gnomAD
rs1166603022 CA391719215	192	K>R		No	ClinGen gnomAD
CA391719167 rs1459647707	194	K>N		No	ClinGen TOPMed
CA268786692 rs997749981	194	K>R		No	ClinGen TOPMed
rs147429604 CA391717088	196	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA268785015 rs768622499	197	A>S		No	ClinGen ExAC TOPMed gnomAD
COSM1678361 COSM50247 CA7478073 rs768622499	197	A>T	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA7478072 rs372937887	197	A>V		No	ClinGen ESP ExAC gnomAD
CA268784997 rs1043566455	198	I>V		No	ClinGen gnomAD
rs1353751636 CA391717065	199	N>D		No	ClinGen gnomAD
rs1272138011 CA391717050	200	P>S		No	ClinGen gnomAD
CA268784993 rs947840738	206	P>H		No	ClinGen TOPMed
CA268784991 rs947840738	206	P>L		No	ClinGen TOPMed
rs947840738 CA391716970	206	P>R		No	ClinGen TOPMed
CA391716977 rs1483560717	206	P>T		No	ClinGen TOPMed
rs1295710069 CA391716932	209	K>N		No	ClinGen gnomAD
rs1440592046 CA391716928	210	S>C		No	ClinGen gnomAD
CA391716896 rs750615057	213	M>I		No	ClinGen ExAC TOPMed gnomAD
rs750615057 CA7478069	213	M>I		No	ClinGen ExAC TOPMed gnomAD
CA7478070 rs758694498	213	M>V		No	ClinGen ExAC TOPMed gnomAD
rs142931657 CA7478068	214	S>I		No	ClinGen 1000Genomes ExAC gnomAD
rs142931657 CA7478067	214	S>T		No	ClinGen 1000Genomes ExAC gnomAD
CA391716879 rs1164438188	216	C>Y		No	ClinGen TOPMed gnomAD
COSM372788 CA391716873 rs1470178749 COSM372789	217	P>A	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs760528362 CA7478064	218	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs764030646 CA7478065	218	R>W		No	ClinGen ExAC TOPMed gnomAD
CA7478062 rs766903252	220	E>G		No	ClinGen ExAC gnomAD
rs752312361 CA7478063	220	E>K		No	ClinGen ExAC gnomAD
CA268784920 rs759290950	222	D>E		No	ClinGen ExAC TOPMed gnomAD
rs759290950 CA7478061	222	D>E		No	ClinGen ExAC TOPMed gnomAD
CA391716809 rs1405804292	224	I>F		No	ClinGen TOPMed
rs1405804292 CA391716812	224	I>L		No	ClinGen TOPMed
rs759054825 CA7478042	230	A>T		No	ClinGen ExAC gnomAD
CA7478041 rs751258356	233	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1368501636 CA391716641	234	P>S		No	ClinGen TOPMed
rs762680544 CA7478039	236	M>I		No	ClinGen ExAC gnomAD
rs1566885357 CA391716613	236	M>K		No	ClinGen Ensembl
rs775191845 CA268784721	236	M>V		No	ClinGen TOPMed gnomAD
CA391716584 rs1242886355	237	T>M		No	ClinGen TOPMed gnomAD
CA391716574 rs1303049689	238	K>R		No	ClinGen TOPMed gnomAD
CA391716559 rs1235318737	239	E>G		No	ClinGen gnomAD
CA7478036 rs771670105	240	H>D		No	ClinGen ExAC gnomAD
rs1345842063 CA391716492	244	F>L		No	ClinGen gnomAD
CA7478035 rs148241546	244	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs369026214 CA7478034	245	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs375774506 CA7478032	248	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs199754432 CA268784698	250	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7478029 rs199754432	250	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199754432 CA7478030	250	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371752390 CA7478031	250	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1595668486 CA391716410	251	D>A		No	ClinGen Ensembl
CA391716401 rs868464274	252	S>P		No	ClinGen gnomAD
CA268784687 rs868464274	252	S>T		No	ClinGen gnomAD
CA7478027 rs748125161	253	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7478028 rs200412140	253	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7478026 rs780921381	254	L>F		No	ClinGen ExAC gnomAD
rs1595668428 CA391716368	255	N>T		No	ClinGen Ensembl
rs74926555 CA268784661	256	S>P		No	ClinGen Ensembl
CA391716323 rs1219438844	259	F>S		No	ClinGen gnomAD
CA7478025 rs754961065	260	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1347574903 CA391716290	262	A>T		No	ClinGen Ensembl
rs1304486890 CA391716274	263	R>L		No	ClinGen TOPMed gnomAD
CA391716278 rs1304486890	263	R>Q		No	ClinGen TOPMed gnomAD
rs201878648 CA7478022	263	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750004543 CA7478021	264	P>L		No	ClinGen ExAC gnomAD
CA391716244 rs1214158047	266	Q>E		No	ClinGen gnomAD
rs1362792377 CA391716235	266	Q>H		No	ClinGen gnomAD
CA391716224 rs1311376016	267	V>A		No	ClinGen TOPMed
CA268784628 rs988584637	268	Q>R		No	ClinGen TOPMed
rs1374843875 CA391716194	270	L>F		No	ClinGen gnomAD
rs760891228 CA7478019	271	I>L		No	ClinGen ExAC gnomAD
rs566766494 COSM961147 CA268784588 COSM961145	272	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs566766494 CA7478018	272	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1169345126 CA391716163	273	K>E		No	ClinGen gnomAD
rs547170555 CA7478017	273	K>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391716136 rs1421042186	275	E>K		No	ClinGen gnomAD
CA391716103 rs1185238840	277	S>N		No	ClinGen gnomAD
CA7478015 rs774465591	279	I>F		No	ClinGen ExAC gnomAD
CA7478014 rs770970642	280	N>S		No	ClinGen ExAC gnomAD
rs1484457620 CA391716065	283	R>K		No	ClinGen TOPMed gnomAD
CA268784399 rs1002606621	284	G>V		No	ClinGen TOPMed gnomAD
rs1306163000 CA391716036	285	Q>H		No	ClinGen gnomAD
CA391716021 rs1249735561	288	P>R		No	ClinGen gnomAD
CA7477992 rs370526234	288	P>S		No	ClinGen ESP ExAC gnomAD
CA391716013 rs1255567287	289	E>D		No	ClinGen TOPMed
CA391716005 rs1193796909	291	M>L		No	ClinGen gnomAD
CA7477991 rs746965732	292	V>A		No	ClinGen ExAC gnomAD
CA7477990 rs746965732	292	V>D		No	ClinGen ExAC gnomAD
CA391715996 rs1323492462	292	V>I		No	ClinGen gnomAD
CA7477989 rs780082782	293	W>*		No	ClinGen ExAC gnomAD
CA7477988 rs771617836	295	L>F		No	ClinGen ExAC TOPMed
CA7477987 rs745437284	295	L>P		No	ClinGen ExAC gnomAD
CA391715956 rs1484443172	298	P>Q		No	ClinGen TOPMed
rs756911216 CA7477985	298	P>S		No	ClinGen ExAC TOPMed gnomAD
rs878892925 CA268784345	301	S>G		No	ClinGen TOPMed gnomAD
rs878892925 CA391715937	301	S>R		No	ClinGen TOPMed gnomAD
rs753461920 CA7477984	301	S>R		No	ClinGen ExAC TOPMed gnomAD
CA7477983 rs377255161	302	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3420269 rs377255161 CA7477982 COSM3420270	302	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs372818214 CA7477979	306	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA391715880 rs1595667453	310	L>P		No	ClinGen Ensembl
CA391715873 rs1595667430	311	H>P		No	ClinGen Ensembl
CA391715875 rs1253843033	311	H>Y		No	ClinGen gnomAD
rs377329525 CA268784262	312	H>D		No	ClinGen Ensembl
RCV000948426 CA7477977 rs114336069	312	H>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA268784255 rs377329525	312	H>Y		No	ClinGen Ensembl
CA7477976 rs376178296	313	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA391715864 rs1334743661	313	D>N		No	ClinGen TOPMed
CA391715855 rs1445563606	314	M>V		No	ClinGen TOPMed
CA7477975 rs143144314	315	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391715848 rs1595667358	315	T>P		No	ClinGen Ensembl
rs372976059 CA7477973	317	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7477972 rs775422288	319	N>S		No	ClinGen ExAC TOPMed gnomAD
CA268784217 rs930322531	323	I>V		No	ClinGen gnomAD
rs45628633 VAR_047509 CA268784204	324	N>I		No	ClinGen UniProt Ensembl dbSNP
CA7477969 rs745798841	324	N>K		No	ClinGen ExAC TOPMed gnomAD
rs778331998 CA7477968	325	S>L		No	ClinGen ExAC TOPMed gnomAD
CA7477966 rs748949244	327	H>R		No	ClinGen ExAC gnomAD
CA391715738 rs1257218592	331	L>P		No	ClinGen TOPMed
CA391715709 rs1174538978	334	G>D		No	ClinGen gnomAD
rs1403282533 CA391715712	334	G>S		No	ClinGen TOPMed gnomAD
CA391715707 rs1174538978	334	G>V		No	ClinGen gnomAD
CA268783953 rs79847180	336	F>I		No	ClinGen Ensembl
CA7477951 rs201305253	341	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1478843249 CA391715661	342	A>P		No	ClinGen gnomAD
rs1255393047 CA391715651	343	E>A		No	ClinGen gnomAD
rs1186824664 CA391715642	344	M>I		No	ClinGen gnomAD
CA391715634 rs1595666537	345	Y>S		No	ClinGen Ensembl
CA268783947 rs1016757389	346	R>C		No	ClinGen TOPMed gnomAD
rs1193739585 CA391715629	346	R>H		No	ClinGen TOPMed gnomAD
CA7477948 rs748859449	349	L>P		No	ClinGen ExAC gnomAD
CA268783937 rs1002248975	352	G>A		No	ClinGen TOPMed
COSM1262355 rs753767966 COSM1262356 CA7477945	354	R>C	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA7477944 rs780312297	354	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1242799384 CA391715577	355	C>G		No	ClinGen TOPMed
rs1242799384 CA391715579	355	C>R		No	ClinGen TOPMed
CA268783906 rs190513619	356	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7477941 rs190513619	356	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391715563 rs1595666352	357	E>G		No	ClinGen Ensembl
CA7477939 rs376264542	359	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756446815 CA7477937	361	W>*		No	ClinGen ExAC gnomAD
CA268783872 rs62021889	362	K>N		No	ClinGen Ensembl
rs867759690 CA268783867	363	G>K		No	ClinGen Ensembl
rs1473058607 CA391715523	363	G>R		No	ClinGen gnomAD
rs375119309 CA391715491	367	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA391715490 rs1595666209	368	E>K		No	ClinGen Ensembl
rs766359433 CA268783835	369	E>D		No	ClinGen ExAC gnomAD
rs774007868 CA7477933	369	E>K		No	ClinGen ExAC gnomAD
CA391715471 rs1233231112	370	P>L		No	ClinGen gnomAD
rs1441422978 CA391715452	373	T>N		No	ClinGen TOPMed
CA268783832 rs911649623	374	H>R		No	ClinGen TOPMed
rs1335489551 CA391715422	378	M>V		No	ClinGen gnomAD
CA391715407 rs1332307213	380	T>A		No	ClinGen gnomAD
rs771385038 CA7477902	388	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1341095251 CA391715301	389	E>K		No	ClinGen gnomAD
rs1235306600 CA391715296	389	E>V		No	ClinGen TOPMed
CA391715284 rs1299953469	390	A>S		No	ClinGen gnomAD
CA391715288 rs1299953469	390	A>T		No	ClinGen gnomAD
CA391715278 rs1432688203	390	A>V		No	ClinGen gnomAD
CA7477901 rs770561613	391	I>T		No	ClinGen ExAC gnomAD
CA391715254 rs1170738727	392	A>V		No	ClinGen gnomAD
CA7477900 rs778371900	393	E>G		No	ClinGen ExAC gnomAD
CA391715237 rs1416924486	394	S>G		No	ClinGen gnomAD
rs1346883439 CA391715181	398	T>A		No	ClinGen TOPMed
rs1477860955 CA391715173	398	T>I		No	ClinGen TOPMed gnomAD
CA391715183 rs1346883439	398	T>P		No	ClinGen TOPMed
CA268783546 rs982630201	399	S>F		No	ClinGen Ensembl
rs748314920 CA7477898	401	Y>F		No	ClinGen ExAC
COSM3420268 rs755266178 COSM3420267 CA7477895	406	S>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs779845000 CA7477893	407	F>L		No	ClinGen ExAC gnomAD
rs963143028 CA391715052	408	E>D		No	ClinGen gnomAD
CA268783502 rs994648552	408	E>K		No	ClinGen Ensembl
rs1393737507 CA391715027	410	H>P		No	ClinGen TOPMed
CA391715026 rs1393737507	410	H>R		No	ClinGen TOPMed
rs1271106196 CA391715011	411	V>A		No	ClinGen gnomAD
CA7477890 rs765225712	413	S>L		No	ClinGen ExAC TOPMed gnomAD
CA617232497 rs1566883024	414	P>*		No	ClinGen Ensembl
CA7477859 rs564008412	414	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA391714924 rs1178287479	414	P>S		No	ClinGen gnomAD
CA7477858 rs373399032	415	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs992201512 CA268783276	415	R>H		No	ClinGen TOPMed gnomAD
CA7477856 rs200216697 COSM1188955 COSM1188954	425	R>Q	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA7477857 rs369261333	425	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1001538266 CA268783257	426	T>A		No	ClinGen TOPMed
CA7477855 rs376098433	426	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs267604176 CA7477851	430	D>N		No	ClinGen ExAC gnomAD
CA7477849 rs186064001	435	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7477848 rs749415926	436	P>T		No	ClinGen ExAC TOPMed gnomAD
CA7477847 rs754706611	437	L>P		No	ClinGen ExAC gnomAD
rs754706611 CA391714627	437	L>R		No	ClinGen ExAC gnomAD
rs1422106593 CA391714592	440	F>L		No	ClinGen gnomAD
rs1409272353 CA391714587	440	F>S		No	ClinGen TOPMed
rs1440698328 CA391714572	441	P>L		No	ClinGen gnomAD
rs765646154 CA7477845	441	P>S		No	ClinGen ExAC TOPMed gnomAD
rs371654774 CA391713738	444	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs371654774 CA7477821	444	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs367879512 CA7477820	445	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA391713715 rs1296351820	446	V>A		No	ClinGen TOPMed
CA391713708 rs1225138624	447	P>A		No	ClinGen TOPMed
CA391713703 rs1278126794	447	P>H		No	ClinGen gnomAD
CA7477816 rs769660222	448	L>P		No	ClinGen ExAC gnomAD
rs781207549 CA7477814	449	P>L		No	ClinGen ExAC gnomAD
rs1422924236 CA391713625	454	L>V		No	ClinGen gnomAD
CA391713613 rs1171333002	455	R>K		No	ClinGen gnomAD
rs1478792228 CA391713605	456	G>C		No	ClinGen gnomAD
rs779593874 CA7477811	460	I>L		No	ClinGen ExAC
CA391713511 rs1348333272	463	K>N		No	ClinGen TOPMed
CA268782629 rs970960528	464	K>R		No	ClinGen Ensembl
CA7477808 rs778139783	465	N>I		No	ClinGen ExAC gnomAD
CA7477807 rs756401383	465	N>K		No	ClinGen ExAC
rs1257852526 CA391713436	470	P>A		No	ClinGen gnomAD
RCV000901909 CA7477805 rs77734634	471	T>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA391713425 rs1595661355	471	T>P		No	ClinGen Ensembl
rs77734634 CA391713419	471	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1258090696 CA391713403	473	S>T		No	ClinGen gnomAD
rs1320669070 CA391713366	475	K>N		No	ClinGen gnomAD
CA7477804 rs768067248	475	K>R		No	ClinGen ExAC gnomAD
CA391713363 rs1282938091	476	D>N		No	ClinGen gnomAD
rs1430873753 CA391713331	478	G>A		No	ClinGen TOPMed
rs751626437 CA391713337	478	G>R		No	ClinGen ExAC TOPMed gnomAD
CA7477802 rs751626437	478	G>S		No	ClinGen ExAC TOPMed gnomAD
rs763118449 CA7477800	481	A>G		No	ClinGen ExAC gnomAD
CA7477798 rs769726676	482	E>K		No	ClinGen ExAC gnomAD
CA268782553 rs1006178265	483	G>C		No	ClinGen Ensembl
CA268782542 rs376709624	484	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA391713195 rs1473006984	489	A>T		No	ClinGen gnomAD
rs1369940417 CA391713186	489	A>V		No	ClinGen gnomAD
rs768754235 CA7477795	490	P>S		No	ClinGen ExAC gnomAD
rs375606189 CA7477793	492	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs572727950 CA268782524	492	G>R		No	ClinGen ExAC gnomAD
CA7477794 rs572727950	492	G>S		No	ClinGen ExAC gnomAD
CA391713123 rs1466739438	494	G>D		No	ClinGen gnomAD
CA7477792 rs771570470	494	G>R		No	ClinGen ExAC TOPMed gnomAD
rs773843320 CA7477773	496	V>A		No	ClinGen ExAC gnomAD
CA391713058 rs773843320	496	V>G		No	ClinGen ExAC gnomAD
CA7477772 rs770606913	497	W>R		No	ClinGen ExAC TOPMed gnomAD
CA7477771 rs748912565	498	A>T		No	ClinGen ExAC gnomAD
CA391713031 rs1296253002	498	A>V		No	ClinGen gnomAD
rs1336185485 CA391713028	499	G>R		No	ClinGen TOPMed
rs755306923 CA7477769	500	E>K		No	ClinGen ExAC TOPMed gnomAD
rs747486383 CA391713004	501	E>K		No	ClinGen ExAC gnomAD
CA7477768 rs747486383	501	E>Q		No	ClinGen ExAC gnomAD
CA268782323 rs971541430	502	G>R		No	ClinGen Ensembl
rs1423998931 CA391712977	503	T>A		No	ClinGen TOPMed gnomAD
CA391712938 rs1478719137	506	E>Q		No	ClinGen gnomAD
CA268782312 rs1025362248	508	E>Q		No	ClinGen Ensembl
CA391712884 rs1488186564	509	E>D		No	ClinGen TOPMed gnomAD
CA7477763 rs369776568	509	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1566881112 CA391712876	510	V>E		No	ClinGen Ensembl
rs1566881112 CA391712872	510	V>G		No	ClinGen Ensembl
rs946773450 CA268782284	512	E>G		No	ClinGen TOPMed
rs1310709798 CA391712841	513	E>K		No	ClinGen gnomAD
CA268782277 rs962145429	515	E>*		No	ClinGen Ensembl
rs1016476036 CA391712800	515	E>D		No	ClinGen TOPMed gnomAD
CA268782265 rs947950611	516	E>*		No	ClinGen Ensembl
CA391712758 rs1006420029	518	S>*		No	ClinGen gnomAD
rs1006420029 CA268782262	518	S>L		No	ClinGen gnomAD
CA7477759 rs374751493	519	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA7477758 rs760458157	523	E>K		No	ClinGen ExAC TOPMed gnomAD
CA7477757 rs775131066	524	E>*		No	ClinGen ExAC gnomAD
rs1334342264 CA391712629	527	K>N		No	ClinGen gnomAD
CA391712597 rs759357184	529	M>I		No	ClinGen ExAC gnomAD
CA7477755 rs759357184	529	M>I		No	ClinGen ExAC gnomAD
CA391712603 rs1299638621	529	M>T		No	ClinGen TOPMed
rs201919907 CA7477754	530	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
rs770392264 CA7477753	531	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1247860215 CA391712485	534	G>D		No	ClinGen gnomAD
CA391712483 rs775946225	535	T>P		No	ClinGen ExAC gnomAD
rs775946225 CA7477730	535	T>S		No	ClinGen ExAC gnomAD
CA7477729 rs772283694	536	A>V		No	ClinGen ExAC gnomAD
CA7477725 rs749443788	540	V>A		No	ClinGen ExAC gnomAD
rs777681107 CA7477724	541	T>M		No	ClinGen ExAC gnomAD
CA7477721 rs756404241	542	A>D		No	ClinGen ExAC TOPMed gnomAD
rs1349783813 CA391712398	542	A>T		No	ClinGen gnomAD
rs1426939619 CA391712382	543	Y>S		No	ClinGen gnomAD
rs1378716275 CA391712370	544	E>*		No	ClinGen TOPMed gnomAD
rs1378716275 CA391712373	544	E>K		No	ClinGen TOPMed gnomAD
CA391712357 rs1178191236	545	E>K		No	ClinGen gnomAD
rs754713811 CA7477718	546	M>I		No	ClinGen ExAC gnomAD
CA7477719 rs754713811	546	M>I		No	ClinGen ExAC gnomAD
rs751344972 CA7477717	547	S>A		No	ClinGen ExAC gnomAD
CA391712292 rs1224526048	550	V>I		No	ClinGen gnomAD
CA268782045 rs376098838	551	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs376098838 CA7477714	551	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs267604175 CA268782037	552	Y>H		No	ClinGen Ensembl
CA7477713 rs749999552	554	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1436990597 CA391712205	556	T>N		No	ClinGen TOPMed
rs764604620 CA7477712	557	K>T		No	ClinGen ExAC gnomAD
rs1304264999 CA391712165	559	V>G		No	ClinGen gnomAD
CA7477709 rs370423429	559	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA391712156 rs1394717144	560	S>Y		No	ClinGen gnomAD
CA391712143 rs138547741	561	F>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7477708 rs138547741	561	F>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1358981272 CA391712129	562	E>G		No	ClinGen gnomAD
CA391712087 rs1366792512	565	A>V		No	ClinGen TOPMed
CA268781987 rs774851076	566	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA391712084 rs774851076	566	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs774851076 CA7477707	566	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs1264513741 CA391711972	569	R>*		No	ClinGen TOPMed gnomAD
rs189784842 CA7477685	569	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7477686 rs189784842	569	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7477684 rs770325829	571	Y>H		No	ClinGen ExAC gnomAD
rs768916196 CA7477681	574	S>*		No	ClinGen ExAC gnomAD
CA7477679 rs779855223	576	F>I		No	ClinGen ExAC gnomAD
rs1407080941 CA391711921	577	T>I		No	ClinGen gnomAD
rs1338822079 CA391711912	578	E>D		No	ClinGen TOPMed gnomAD
CA7477678 rs758123654	582	Y>C		No	ClinGen ExAC gnomAD
rs778773658 CA7477676	586	S>F		No	ClinGen ExAC gnomAD
rs932400537 CA268781334	588	A>G		No	ClinGen TOPMed
CA7477675 rs757212963	589	S>L		No	ClinGen ExAC gnomAD
CA391711845 rs1476272317	589	S>P		No	ClinGen gnomAD
rs976980441 CA268781317	590	V>G		No	ClinGen TOPMed
rs1444906559 CA391711841	590	V>M		No	ClinGen gnomAD
CA7477673 rs763671402	591	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1456889834 CA391711812	594	D>A		No	ClinGen gnomAD
rs770819925 CA7477658	594	D>E		No	ClinGen ExAC gnomAD
rs749198422 CA7477657	595	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA391711789 rs1170348655	596	N>D		No	ClinGen gnomAD
rs777451541 CA268777892	597	K>M		No	ClinGen ExAC TOPMed gnomAD
rs777451541 CA7477656	597	K>R		No	ClinGen ExAC TOPMed gnomAD
COSM2155316 CA7477655 COSM2155315 rs61755438	598	R>C	central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
VAR_047510 rs8025153 CA7477654	598	R>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA391711771 rs1209408177	599	Q>E		No	ClinGen TOPMed
rs1288002846 CA391711765	599	Q>H		No	ClinGen TOPMed
CA7477653 rs781062086	600	M>I		No	ClinGen ExAC gnomAD
rs1453612124 CA391711762	600	M>L		No	ClinGen TOPMed
CA7477652 rs754629737	602	R>C		No	ClinGen ExAC gnomAD
rs945118506 CA268777875	605	P>R		No	ClinGen TOPMed
CA7477650 rs376425228	609	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA7477649 rs762261084	610	M>V		No	ClinGen ExAC gnomAD
CA7477647 rs764173871	613	S>P		No	ClinGen ExAC gnomAD
rs760801041 CA7477646	616	M>V		No	ClinGen ExAC gnomAD
CA391711637 rs1413470998	618	Q>R		No	ClinGen TOPMed
CA7477644 rs772222096	619	M>I		No	ClinGen ExAC gnomAD
CA391711632 rs775543218	619	M>L		No	ClinGen ExAC gnomAD
rs775543218 CA7477645	619	M>V		No	ClinGen ExAC gnomAD
rs759781261 CA7477643	621	W>*		No	ClinGen ExAC gnomAD
CA268777853 rs888137007	621	W>R		No	ClinGen Ensembl
rs774035692 CA7477642	622	N>I		No	ClinGen ExAC TOPMed gnomAD
rs770716511 CA7477641	624	G>V		No	ClinGen ExAC gnomAD
rs1199240927 CA391711569	627	M>I		No	ClinGen gnomAD
CA391711566 rs1490624273	628	V>F		No	ClinGen gnomAD
rs749238790 CA7477640	633	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs777792464 CA7477639	634	T>M		No	ClinGen ExAC TOPMed gnomAD
rs184388451 CA7477636	635	M>I		No	ClinGen 1000Genomes ExAC gnomAD
CA268777833 rs184388451	635	M>I		No	ClinGen 1000Genomes ExAC gnomAD
rs373270868 CA7477637	635	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779841921 CA268777838	635	M>V		No	ClinGen Ensembl
CA391711516 rs1342883216	636	D>N		No	ClinGen gnomAD
rs1464423991 CA391711475	640	Q>K		No	ClinGen TOPMed gnomAD
CA268777535 rs931137187	642	N>Y		No	ClinGen TOPMed
CA391711440 rs1242753795	644	A>E		No	ClinGen gnomAD
CA7477615 rs779815323	645	V>I		No	ClinGen ExAC gnomAD
rs1298219251 CA391711426	646	F>L		No	ClinGen TOPMed
CA391711429 rs1443619826	646	F>S		No	ClinGen TOPMed
rs749691618 CA7477613	650	G>R		No	ClinGen ExAC TOPMed gnomAD
CA268777523 rs778088546	652	S>R		No	ClinGen ExAC gnomAD
CA7477611 rs756636014	653	G>S		No	ClinGen ExAC TOPMed gnomAD
rs755025022 CA7477608	654	Y>*		No	ClinGen ExAC gnomAD
rs1595651009 CA391711372	654	Y>C		No	ClinGen Ensembl
rs761974980 CA7477607	655	L>V		No	ClinGen ExAC TOPMed gnomAD
CA391711361 rs1315242472	656	L>F		No	ClinGen TOPMed gnomAD
CA391711363 rs1315242472	656	L>I		No	ClinGen TOPMed gnomAD
rs766667542 CA7477605	657	K>R		No	ClinGen ExAC gnomAD
COSM554911 COSM554912 rs763247618 CA7477604	661	M>T	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs773166806 CA7477603	662	R>C		No	ClinGen ExAC TOPMed gnomAD
CA391711291 rs773166806	662	R>G		No	ClinGen ExAC TOPMed gnomAD
rs538647274 CA7477602	662	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773166806 CA391711292	662	R>S		No	ClinGen ExAC TOPMed gnomAD
CA268777468 rs940002262	663	R>Q		No	ClinGen TOPMed
rs776725866 CA7477601	663	R>W		No	ClinGen ExAC TOPMed gnomAD
VAR_047511 rs9972332 CA7477598	664	P>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7477599 rs9972332	664	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776573990 CA7477600	664	P>S		No	ClinGen ExAC gnomAD
CA7477596 rs771761578	674	D>E		No	ClinGen ExAC gnomAD
rs768874432 CA7477595	675	R>C		No	ClinGen ExAC TOPMed gnomAD
rs778139359 CA7477594	675	R>L		No	ClinGen ExAC
CA268777443 rs921094080	676	I>V		No	ClinGen Ensembl
rs200355233 CA7477592	677	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7477590 rs755412316	678	V>M		No	ClinGen ExAC gnomAD
CA7477585 rs750607884	680	V>G		No	ClinGen ExAC gnomAD
rs1391456191 CA391711117	681	A>T		No	ClinGen gnomAD
CA391711109 rs1213033101	682	T>A		No	ClinGen TOPMed gnomAD
rs761760844 CA7477583	682	T>N		No	ClinGen ExAC TOPMed gnomAD
CA391711095 rs1304002395	683	T>I		No	ClinGen gnomAD
CA7477582 rs753571442	683	T>P		No	ClinGen ExAC gnomAD
CA391711074 rs1424033609	686	I>L		No	ClinGen Ensembl
rs200020289 CA7477579	687	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs779347065 CA7477567	689	I>V		No	ClinGen ExAC TOPMed gnomAD
rs757388467 CA7477566	691	G>R		No	ClinGen ExAC gnomAD
CA391710974 rs1205310482	692	Q>*		No	ClinGen gnomAD
CA391710949 rs1253785893	694	L>P		No	ClinGen gnomAD
rs753456494 COSM961132 CA7477565 COSM961130	697	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs548866418 CA7477564	697	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1280761344 CA391710917	698	S>G		No	ClinGen TOPMed
CA391710907 rs760697526	698	S>R		No	ClinGen ExAC TOPMed gnomAD
CA7477562 rs370834459	699	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA391710891 rs1325011113	700	R>C		No	ClinGen gnomAD
rs1325011113 CA391710893	700	R>G		No	ClinGen gnomAD
COSM961127 rs536212553 CA268777134 COSM961129	700	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes TOPMed gnomAD
CA391710877 rs1566877046	701	T>I		No	ClinGen Ensembl
CA7477561 rs201519816	702	Y>C		No	ClinGen ExAC gnomAD
rs773843302 CA391710839	705	V>L		No	ClinGen ExAC TOPMed gnomAD
rs773843302 CA7477559	705	V>M		No	ClinGen ExAC TOPMed gnomAD
rs28395835 VAR_047512 CA268777120	712	G>R		No	ClinGen UniProt Ensembl dbSNP
CA391710754 rs1469340413	713	D>E		No	ClinGen TOPMed gnomAD
CA391710743 rs1406744844	714	P>L		No	ClinGen gnomAD
CA391710714 rs1460301016	717	R>C		No	ClinGen gnomAD
rs755626117 CA7477557	717	R>H		No	ClinGen ExAC gnomAD
rs1429972521 CA391710699	718	Y>*		No	ClinGen gnomAD
CA391710694 rs1253636768	719	R>*		No	ClinGen TOPMed gnomAD
CA7477555 COSM3815960 rs768839429 COSM3815961	719	R>Q	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1264341357 CA391710666	722	L>M		No	ClinGen gnomAD
rs1455584179 CA391710610	727	N>I		No	ClinGen TOPMed
rs776197303 CA7477553	729	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1390504381 CA391710579	730	N>S		No	ClinGen TOPMed
CA268777092 rs936290085	731	P>S		No	ClinGen TOPMed gnomAD
rs935225132 CA268777088	732	V>F		No	ClinGen Ensembl
rs1346771079 CA391710514	736	E>K		No	ClinGen TOPMed
rs772704040 CA7477552	737	P>L		No	ClinGen ExAC gnomAD
rs772704040 CA391710498	737	P>R		No	ClinGen ExAC gnomAD
rs922183275 CA268777082	738	F>L		No	ClinGen TOPMed
CA7477551 rs745985655	741	E>K		No	ClinGen ExAC gnomAD
CA7477533 rs746325840	743	I>T		No	ClinGen ExAC gnomAD
CA268776841 rs973779310	745	M>R		No	ClinGen TOPMed
CA7477532 rs369138015	746	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7477531 rs770848581	747	E>K		No	ClinGen ExAC gnomAD
rs1386706175 CA391709757	748	L>V		No	ClinGen TOPMed gnomAD
rs1156368299 CA391709749	749	A>T		No	ClinGen gnomAD
CA7477529 rs371989767	749	A>V		No	ClinGen ESP ExAC gnomAD
rs756352912 CA7477528	753	V>M		No	ClinGen ExAC gnomAD
rs201829380 CA7477526	755	V>G		No	ClinGen ExAC gnomAD
rs747974236 CA7477527	755	V>M		No	ClinGen ExAC gnomAD
CA7477521 rs749944347	756	M>I		No	ClinGen ExAC
CA7477522 rs749944347	756	M>I		No	ClinGen ExAC
CA7477523 rs765930754	756	M>K		No	ClinGen ExAC
CA7477525 rs751436573	756	M>L		No	ClinGen ExAC gnomAD
rs751436573 CA7477524	756	M>V		No	ClinGen ExAC gnomAD
CA7477520 rs764839266	757	E>*		No	ClinGen ExAC
rs776017059 CA7477518	757	E>D		No	ClinGen ExAC
CA7477519 rs761536430	757	E>G		No	ClinGen ExAC
rs767951535 CA7477517	761	K>T		No	ClinGen ExAC gnomAD
CA7477516 rs760123479	762	F>L		No	ClinGen ExAC gnomAD
CA7477515 rs774662780	765	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs771452038 CA391709527	766	R>C		No	ClinGen ExAC gnomAD
rs771452038 CA7477514	766	R>G		No	ClinGen ExAC gnomAD
CA268776798 rs868163732	766	R>H		No	ClinGen TOPMed
rs991892411 CA268776792	767	I>V		No	ClinGen Ensembl
CA391709475 rs1405318193	770	I>N		No	ClinGen gnomAD
CA391709482 rs1156621539	770	I>V		No	ClinGen TOPMed
rs202225285 CA7477496	777	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1213766648 CA391709240	783	H>L		No	ClinGen gnomAD
CA391709230 rs1339728024	784	S>C		No	ClinGen gnomAD
rs773199542 CA7477493	785	E>D		No	ClinGen ExAC gnomAD
CA268776605 rs1022113655	785	E>Q		No	ClinGen Ensembl
rs1449840020 CA391709164	788	M>I		No	ClinGen gnomAD
CA268776597 rs1012463413	788	M>L		No	ClinGen Ensembl
rs769801631 CA7477492	789	P>S		No	ClinGen ExAC gnomAD
CA391709117 rs1263916892	792	M>K		No	ClinGen TOPMed
CA7477491 rs762039673	794	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7477490 rs776900569	794	A>V		No	ClinGen ExAC TOPMed gnomAD
CA391709060 rs1218956127	796	F>I		No	ClinGen TOPMed gnomAD
CA391709030 rs1420504357	798	F>I		No	ClinGen gnomAD
rs745776487 CA7477485	798	F>L		No	ClinGen ExAC gnomAD
CA7477484 rs778289490	800	E>K		No	ClinGen ExAC gnomAD
rs1242657944 CA391708952	800	E>V		No	ClinGen gnomAD
CA391708852 rs1184251156	802	K>N		No	ClinGen gnomAD
CA7477483 rs756767758	805	I>V		No	ClinGen ExAC TOPMed gnomAD
rs753385548 CA7477482	806	P>L		No	ClinGen ExAC TOPMed
rs1231088632 CA391708775	808	A>T		No	ClinGen TOPMed gnomAD
CA7477481 rs371535491	809	W>*		No	ClinGen ESP ExAC gnomAD
CA7477480 rs755793086	810	A>S		No	ClinGen ExAC TOPMed gnomAD
rs755793086 CA391708748	810	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1345510083 CA391708741	810	A>V		No	ClinGen TOPMed
rs770984448 CA7477464	813	T>N		No	ClinGen ExAC gnomAD
rs1386925860 CA391708640	814	V>A		No	ClinGen TOPMed
CA391708650 rs1290674565	814	V>M		No	ClinGen gnomAD
rs1294273762 CA391708570	819	P>S		No	ClinGen gnomAD
CA391708550 rs1459539700	820	I>T		No	ClinGen gnomAD
CA391708556 rs1412515493	820	I>V		No	ClinGen gnomAD
rs755850755 CA7477461	821	K>E		No	ClinGen ExAC gnomAD
rs755850755 CA391708547	821	K>Q		No	ClinGen ExAC gnomAD
COSM1220908 COSM1220909 rs1220184077 CA391708534	822	F>L	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs747772743 CA7477460	824	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1401281668 CA391708507	826	H>R		No	ClinGen TOPMed gnomAD
CA391708495 rs1566874925	828	T>P		No	ClinGen Ensembl
CA7477458 rs758858279	828	T>R		No	ClinGen ExAC gnomAD
rs1421481192 CA391708486	829	K>T		No	ClinGen gnomAD
rs765773836 CA7477456	830	S>T		No	ClinGen ExAC TOPMed gnomAD
rs757739588 CA7477455	831	V>G		No	ClinGen ExAC gnomAD
rs988707522 CA268776437	831	V>L		No	ClinGen TOPMed gnomAD
rs267604174 CA268776429	838	G>E		No	ClinGen Ensembl
CA7477453 rs764120829	838	G>R		No	ClinGen ExAC gnomAD
rs773846625 RCV000979342	839	G>missing		No	ClinVar dbSNP
rs1421395618 CA391708411	841	P>L		No	ClinGen gnomAD
CA268776423 rs978608798	841	P>S		No	ClinGen Ensembl
CA7477451 rs760809615	842	E>D		No	ClinGen ExAC gnomAD
rs138517048 CA7477430	844	P>R		No	ClinGen 1000Genomes ExAC gnomAD
rs751419723 CA7477429	846	P>S		No	ClinGen ExAC gnomAD
rs1257407261 CA391708362	847	L>V		No	ClinGen gnomAD
rs766233850 CA7477428	848	A>V		No	ClinGen ExAC gnomAD
rs1250988829 CA391708343	850	P>Q		No	ClinGen gnomAD
rs200906155 CA268776232	850	P>T		No	ClinGen Ensembl
rs1283235504 CA391708321	853	S>R		No	ClinGen gnomAD
rs377070188 CA7477425	855	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1313097571 CA391708299	857	G>W		No	ClinGen TOPMed gnomAD
rs746627380 CA7477419	860	A>T		No	ClinGen ExAC gnomAD
CA268776193 rs868323995	861	P>S		No	ClinGen gnomAD
CA7477418 rs779256250	862	T>M		No	ClinGen ExAC gnomAD
CA268776180 rs994888233	864	N>S		No	ClinGen TOPMed gnomAD
CA7477417 rs771226053	866	S>P		No	ClinGen ExAC
rs1464937419 CA391708235	867	P>L		No	ClinGen gnomAD
rs1170846326 CA391708238	867	P>S		No	ClinGen TOPMed
rs1333989592 CA391708218	868	A>V		No	ClinGen gnomAD
CA391708204 rs1166317875	871	A>T		No	ClinGen gnomAD
rs1449065012 CA391708201	871	A>V		No	ClinGen gnomAD
CA7477374 rs773656506	872	G>V		No	ClinGen ExAC TOPMed gnomAD
rs759139303 CA7477375	872	G>W		No	ClinGen ExAC TOPMed gnomAD
rs1374435304 CA391708189	873	A>V		No	ClinGen TOPMed gnomAD
CA268776000 rs910357234	875	E>G		No	ClinGen TOPMed
rs964910990 CA268776008	875	E>K		No	ClinGen TOPMed
CA7477372 rs373846576	876	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA7477373 rs373846576	876	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs777072869 CA7477371	878	M>K		No	ClinGen ExAC gnomAD
rs1407145018 CA391708163	878	M>L		No	ClinGen TOPMed
rs557788617 CA268775985	880	E>A		No	ClinGen 1000Genomes
rs369051152 CA7477369	881	A>P		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs369051152 CA7477370	881	A>S		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA7477364 rs757060414	882	A>G		No	ClinGen ExAC gnomAD
rs746014512 CA7477367	882	A>S		No	ClinGen ExAC gnomAD
rs746014512 CA7477366	882	A>T		No	ClinGen ExAC gnomAD
CA7477365 rs757060414	882	A>V		No	ClinGen ExAC gnomAD
rs749081695 CA7477346	883	E>D		No	ClinGen ExAC gnomAD
rs1223106709 CA391708117	883	E>G		No	ClinGen gnomAD
CA391708110 rs1266705271	884	P>L		No	ClinGen TOPMed gnomAD
CA391708111 rs1266705271	884	P>R		No	ClinGen TOPMed gnomAD
rs756076257 CA7477344	887	A>T		No	ClinGen ExAC gnomAD
rs1290579575 CA391708088	887	A>V		No	ClinGen gnomAD
rs747695805 CA7477343	888	S>G		No	ClinGen ExAC TOPMed gnomAD
rs780691789 CA7477342	888	S>I		No	ClinGen ExAC gnomAD
CA391708063 rs1246669592	889	L>P		No	ClinGen gnomAD
rs1438634566 CA391708018	892	L>V		No	ClinGen gnomAD
rs1457682470 CA391708002	893	R>P		No	ClinGen gnomAD
CA268775871 rs972052467	893	R>W		No	ClinGen TOPMed gnomAD
rs754503558 CA7477341	894	E>K		No	ClinGen ExAC gnomAD
CA391707951 rs1267535968	897	G>S		No	ClinGen gnomAD
rs866375038 CA268775860	898	V>L		No	ClinGen TOPMed gnomAD
CA391707935 rs866375038	898	V>M		No	ClinGen TOPMed gnomAD
rs751051109 CA7477340	899	V>M		No	ClinGen ExAC gnomAD
CA391707872 rs775636721	903	R>P		No	ClinGen TOPMed gnomAD
rs775636721 CA268775847	903	R>Q		No	ClinGen TOPMed gnomAD
CA391707875 rs1465722688	903	R>W		No	ClinGen TOPMed gnomAD
rs1595636278 CA391707863	904	R>Q		No	ClinGen Ensembl
rs1231511338 CA391707865	904	R>W		No	ClinGen gnomAD
rs567946906 CA7477337	905	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs567946906 CA391707847	905	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA268775815 rs1051277118	906	E>G		No	ClinGen Ensembl
CA7477335 rs200750147	906	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200750147 CA7477336	906	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1319935838 CA391707809	908	E>G		No	ClinGen gnomAD
CA7477334 rs776201145	910	R>*		No	ClinGen ExAC gnomAD
CA391707772 rs1476880023	911	E>V		No	ClinGen TOPMed
CA268775782 rs934122479	912	L>S		No	ClinGen TOPMed gnomAD
rs1465298714 CA391707749	913	E>*		No	ClinGen gnomAD
rs867608744 CA268775780	914	R>Q		No	ClinGen Ensembl
rs772704297 CA7477333	917	A>T		No	ClinGen ExAC TOPMed gnomAD
CA391707698 rs1426347844	918	R>W		No	ClinGen gnomAD
CA391707687 rs1318237229	919	R>H		No	ClinGen TOPMed
CA391707685 rs1318237229	919	R>P		No	ClinGen TOPMed
rs375960913 CA268775767	919	R>S		No	ClinGen ESP TOPMed gnomAD
rs1450703484 CA391707677	920	W>*		No	ClinGen gnomAD
rs1188639296 CA391707681	920	W>G		No	ClinGen gnomAD
CA391707649 rs1199101096	922	E>K		No	ClinGen TOPMed gnomAD
rs1483106660 CA391707640	923	L>V		No	ClinGen TOPMed gnomAD
CA391707635 rs10400833	924	L>V		No	ClinGen gnomAD
CA391707622 rs1340297592	926	R>Q		No	ClinGen gnomAD
rs62021888 CA7477332	926	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391707616 rs1229154663	927	G>D		No	ClinGen TOPMed gnomAD
rs1346868101 CA391707618	927	G>S		No	ClinGen TOPMed
CA391707608 rs1367267606	928	A>E		No	ClinGen TOPMed gnomAD
rs1367267606 CA391707610	928	A>V		No	ClinGen TOPMed gnomAD
CA391707601 rs1395259636	929	A>E		No	ClinGen gnomAD
rs777549665 CA7477328	932	A>E		No	ClinGen ExAC gnomAD
CA391707574 rs777549665	932	A>V		No	ClinGen ExAC gnomAD
rs895557265 CA268775754	934	L>P		No	ClinGen TOPMed
rs946771999 CA391707549	935	G>R		No	ClinGen TOPMed gnomAD
rs946771999 CA268775746	935	G>W		No	ClinGen TOPMed gnomAD
CA391707535 rs1257380387	936	P>L		No	ClinGen gnomAD
CA391707538 rs1423710592	936	P>S		No	ClinGen TOPMed gnomAD
rs1423710592 CA391707541	936	P>T		No	ClinGen TOPMed gnomAD
CA7477325 rs781149428	937	P>L		No	ClinGen ExAC gnomAD
CA391707526 rs781149428	937	P>Q		No	ClinGen ExAC gnomAD
rs754922658 CA391707516	938	G>A		No	ClinGen ExAC TOPMed gnomAD
rs754922658 CA7477324	938	G>V		No	ClinGen ExAC TOPMed gnomAD
CA7477323 rs751053719	939	V>M		No	ClinGen ExAC gnomAD
CA391707503 rs1244027960	940	G>R		No	ClinGen gnomAD
CA391707489 rs1314682977	941	G>D		No	ClinGen TOPMed gnomAD
CA391707491 rs1314682977	941	G>V		No	ClinGen TOPMed gnomAD
CA391707486 rs1349500903	942	V>I		No	ClinGen TOPMed gnomAD
rs915224694 CA268775727	943	G>R		No	ClinGen gnomAD
CA391707477 rs915224694	943	G>R		No	ClinGen gnomAD
CA7477320 rs750043598	945	C>G		No	ClinGen ExAC TOPMed gnomAD
CA268775719 rs867030698	945	C>Y		No	ClinGen Ensembl
CA391707425 rs1387997547	948	G>R		No	ClinGen gnomAD
CA391707427 rs1387997547	948	G>S		No	ClinGen gnomAD
rs1162120892 CA391707409	949	P>L		No	ClinGen gnomAD
rs1369492863 CA391707407	950	G>S		No	ClinGen gnomAD
rs764972512 CA7477319	951	K>N		No	ClinGen ExAC TOPMed gnomAD
rs761191006 CA7477318	954	R>C		No	ClinGen ExAC TOPMed gnomAD
rs372712586 CA7477317	954	R>H		No	ClinGen ESP ExAC gnomAD
CA268775695 rs904164768	956	K>N		No	ClinGen TOPMed gnomAD
CA7477316 rs767956317	956	K>T		No	ClinGen ExAC TOPMed gnomAD
CA391707328 rs760035036	957	R>K		No	ClinGen ExAC gnomAD
CA391707294 rs1349596543	957	R>S		No	ClinGen gnomAD
CA7477315 rs760035036	957	R>T		No	ClinGen ExAC gnomAD
rs1294845001 CA391707292	958	S>G		No	ClinGen gnomAD
CA7477295 rs763085859	958	S>I		No	ClinGen ExAC TOPMed gnomAD
CA7477296 rs763085859	958	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1422613445 CA391707274	959	L>R		No	ClinGen TOPMed
CA391707270 rs1162034643	960	P>A		No	ClinGen TOPMed
rs1298938453 CA391707266	960	P>L		No	ClinGen gnomAD
rs1162034643 CA391707269	960	P>S		No	ClinGen TOPMed
CA391707261 rs1433354783	961	R>G		No	ClinGen TOPMed gnomAD
rs1333891068 CA391707252	962	E>K		No	ClinGen gnomAD
CA391707240 rs1377439611	963	E>K		No	ClinGen gnomAD
CA391707241 rs1377439611	963	E>Q		No	ClinGen gnomAD
CA7477290 rs776295108	964	S>C		No	ClinGen ExAC gnomAD
CA268775609 rs963384124	964	S>N		No	ClinGen TOPMed gnomAD
CA391707217 rs768444275	965	A>S		No	ClinGen ExAC TOPMed gnomAD
CA7477289 rs768444275	965	A>T		No	ClinGen ExAC TOPMed gnomAD
CA391707211 rs1236750691	966	G>R		No	ClinGen TOPMed gnomAD
rs1236750691 CA391707209	966	G>R		No	ClinGen TOPMed gnomAD
rs1187987653 CA391707187	968	A>E		No	ClinGen gnomAD
rs1187987653 CA391707183	968	A>V		No	ClinGen gnomAD
CA7477287 rs775566387	969	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1203857460 CA391707170	970	G>S		No	ClinGen gnomAD
CA391707158 rs1274471578	971	E>*		No	ClinGen gnomAD
CA7477284 rs559524517	971	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391707162 rs1274471578	971	E>K		No	ClinGen gnomAD
CA7477283 rs778515223	972	G>V		No	ClinGen ExAC TOPMed gnomAD
CA391707136 rs1298819866	973	P>L		No	ClinGen gnomAD
rs1449125843 CA391707140	973	P>S		No	ClinGen gnomAD
rs1322415069 CA391707118	975	G>D		No	ClinGen TOPMed
rs954461922 CA268775592	975	G>S		No	ClinGen Ensembl
CA391707092 rs1409412022	977	D>E		No	ClinGen TOPMed gnomAD
rs1409412022 CA391707094	977	D>E		No	ClinGen TOPMed gnomAD
CA391707091 rs756996716	978	G>R		No	ClinGen ExAC TOPMed gnomAD
CA391707089 rs756996716	978	G>R		No	ClinGen ExAC TOPMed gnomAD
rs756996716 CA7477282	978	G>W		No	ClinGen ExAC TOPMed gnomAD
CA391707078 rs1403593963	979	R>C		No	ClinGen gnomAD
CA391707080 rs1403593963	979	R>S		No	ClinGen gnomAD
rs1199631860 CA391707066	980	V>A		No	ClinGen TOPMed
CA391707071 rs748878920	980	V>L		No	ClinGen ExAC gnomAD
rs748878920 CA7477281	980	V>M		No	ClinGen ExAC gnomAD
CA391707058 COSM3981474 rs748328477 COSM3981475	981	R>P	ovary [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA268775578 rs748328477	981	R>Q		No	ClinGen TOPMed gnomAD
rs1181074279 CA391707010	985	D>E		No	ClinGen gnomAD
CA391707020 rs1249191883	985	D>H		No	ClinGen TOPMed gnomAD
rs1249191883 CA391707021	985	D>N		No	ClinGen TOPMed gnomAD
CA391707008 rs1483161800	986	R>G		No	ClinGen gnomAD
CA7477280 rs781423235	989	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1025598098 CA268775571	991	L>R		No	ClinGen TOPMed
rs1234308401 CA391706670	993	R>G		No	ClinGen TOPMed gnomAD
CA391706666 rs1337464039	993	R>Q		No	ClinGen gnomAD
rs1234308401 CA391706669	993	R>W		No	ClinGen TOPMed gnomAD
rs1409512364 CA391706663	994	Q>*		No	ClinGen gnomAD
rs371644992 CA7477279	995	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1349261010 CA391706650	996	E>G		No	ClinGen gnomAD
rs751864031 CA7477278	996	E>K		No	ClinGen ExAC gnomAD
rs1462929982 CA391706630	998	Q>H		No	ClinGen gnomAD
CA7477276 rs758854976	999	Y>*		No	ClinGen ExAC TOPMed
rs1430753013 CA391706616	1000	E>D		No	ClinGen TOPMed gnomAD
CA391706622 rs750535312	1000	E>K		No	ClinGen ExAC TOPMed
rs750535312 CA7477275	1000	E>Q		No	ClinGen ExAC TOPMed
rs533090413 CA7477274	1002	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391706592 rs1342554473	1004	K>M		No	ClinGen TOPMed
CA7477272 rs367877099	1005	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs367877099 CA7477273	1005	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA7477271 rs764222475	1005	R>L		No	ClinGen ExAC TOPMed gnomAD
CA391706589 rs367877099	1005	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1042684322 CA268775514	1006	K>E		No	ClinGen Ensembl
rs760561984 CA7477270	1007	E>K		No	ClinGen ExAC gnomAD
CA391706558 rs1424974716	1009	H>Q		No	ClinGen gnomAD
rs1470215807 CA391706554	1010	V>L		No	ClinGen gnomAD
CA391706556 rs1470215807	1010	V>M		No	ClinGen gnomAD
CA7477268 rs140547653	1011	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391706550 rs1228109470	1011	A>T		No	ClinGen gnomAD
rs140547653 CA391706547	1011	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391706545 rs1217569009	1012	E>K		No	ClinGen gnomAD
rs1310325878 CA391706518	1013	Q>H		No	ClinGen TOPMed gnomAD
rs762562740 CA7477246	1014	I>V		No	ClinGen ExAC TOPMed gnomAD
CA7477245 rs772572891	1015	S>A		No	ClinGen ExAC
CA268775377 rs942072832	1016	K>T		No	ClinGen TOPMed
rs769519388 CA7477244	1017	M>I		No	ClinGen ExAC gnomAD
rs1355734315 CA391706497	1017	M>L		No	ClinGen gnomAD
CA391706489 rs1407593033	1018	M>V		No	ClinGen gnomAD
rs747690360 CA7477243	1019	E>*		No	ClinGen ExAC gnomAD
rs562330280 CA7477241	1021	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA391706464 rs1295347353	1022	R>G		No	ClinGen gnomAD
rs746230793 CA391706457	1023	E>K		No	ClinGen ExAC gnomAD
rs746230793 CA7477240	1023	E>Q		No	ClinGen ExAC gnomAD
CA7477239 rs779441447	1024	K>N		No	ClinGen ExAC gnomAD
rs910444022 CA268775334	1025	Q>K		No	ClinGen gnomAD
CA391706431 rs1258625010	1026	A>V		No	ClinGen gnomAD
rs1401783639 CA391706401	1031	A>S		No	ClinGen TOPMed gnomAD
CA7477237 rs370298493	1031	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1464372214 CA391706388	1033	K>N		No	ClinGen TOPMed
CA7477235 rs756361307	1033	K>R		No	ClinGen ExAC gnomAD
CA391706386 rs1243824622	1034	E>K		No	ClinGen gnomAD
CA7477234 rs752800194	1035	T>M		No	ClinGen ExAC TOPMed gnomAD
CA391706371 rs1595631220	1036	S>A		No	ClinGen Ensembl
CA391706364 rs1328966782	1037	E>G		No	ClinGen gnomAD
CA391706367 rs1349484886	1037	E>K		No	ClinGen gnomAD
CA391706341 rs751421950	1038	N>K		No	ClinGen ExAC gnomAD
CA7477213 COSM187225 rs373461445	1039	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA391706326 rs1595630583	1041	K>E		No	ClinGen Ensembl
CA391706299 rs1595630554	1044	K>T		No	ClinGen Ensembl
CA7477212 rs758370393	1045	K>E		No	ClinGen ExAC TOPMed gnomAD
CA391706286 rs1419472077	1046	K>E		No	ClinGen TOPMed gnomAD
CA7477210 rs574409813	1046	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7477211 rs574409813	1046	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391706287 rs1419472077	1046	K>Q		No	ClinGen TOPMed gnomAD
CA391706274 rs1449542679	1048	E>K		No	ClinGen TOPMed
rs200542440 CA7477209	1049	T>K		No	ClinGen 1000Genomes ExAC gnomAD
CA268775170 rs1011045829	1050	K>N		No	ClinGen Ensembl
CA391706260 rs1446259907	1050	K>T		No	ClinGen gnomAD
rs763762666 CA7477207	1052	L>R		No	ClinGen ExAC gnomAD
CA7477208 rs776099272	1052	L>V		No	ClinGen ExAC gnomAD
rs1422813274 CA391706228	1053	E>D		No	ClinGen gnomAD
COSM554916 CA7477206 COSM554915 rs760283955	1054	R>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs894052794 CA268775159	1054	R>W		No	ClinGen Ensembl
CA391706209 rs1216423010	1055	I>M		No	ClinGen TOPMed
rs1339388499 CA391706211	1055	I>S		No	ClinGen TOPMed
CA7477205 rs201513540	1056	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA268775145 rs1002195478	1058	M>I		No	ClinGen Ensembl
rs771138851 CA7477204	1058	M>T		No	ClinGen ExAC TOPMed gnomAD
CA7477203 rs749648015	1060	K>E		No	ClinGen ExAC gnomAD
rs773656130 CA7477202	1060	K>R		No	ClinGen ExAC gnomAD
COSM187224 rs1402719071 CA391706086	1067	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs929381917 CA268775128	1070	R>M		No	ClinGen TOPMed
rs1310869679 CA391705995	1070	R>S		No	ClinGen gnomAD
CA391705965 rs1333214972	1073	R>K		No	ClinGen gnomAD
rs935621476 CA268774669	1078	S>A		No	ClinGen TOPMed gnomAD
CA391705861 rs1293054332	1081	Q>H		No	ClinGen gnomAD
CA391705855 rs1234192006	1082	E>A		No	ClinGen gnomAD
CA391705860 rs1378159298	1082	E>K		No	ClinGen gnomAD
CA7477174 rs368408184	1085	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs979616926 CA268774646	1085	Q>L		No	ClinGen TOPMed gnomAD
CA391705817 rs1441515531	1086	V>L		No	ClinGen gnomAD
rs1441515531 CA391705818	1086	V>M		No	ClinGen gnomAD
CA391705776 rs1170937791	1089	Q>R		No	ClinGen TOPMed
rs368664012 CA7477142	1091	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs376093580 CA7477141	1092	E>K		No	ClinGen ESP ExAC TOPMed
rs936212 CA391705664	1095	E>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_047513 rs936212 CA7477140	1095	E>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7477138 rs563904567	1096	R>S		No	ClinGen 1000Genomes ExAC gnomAD
CA7477139 rs563904567	1096	R>S		No	ClinGen 1000Genomes ExAC gnomAD
CA7477137 rs377366171	1097	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs756022780 CA7477136	1098	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1467033244 CA391705619	1099	E>G		No	ClinGen TOPMed
rs984729061 CA391705623	1099	E>K		No	ClinGen TOPMed gnomAD
CA268773991 rs984729061	1099	E>Q		No	ClinGen TOPMed gnomAD
rs754589888 CA7477133	1102	E>K		No	ClinGen ExAC gnomAD
CA268773980 rs909430811	1103	E>K		No	ClinGen TOPMed gnomAD
CA7477130 rs543995403	1106	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1188952 rs751284139 COSM1188953 CA7477131	1106	A>P	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA7477129 rs543995403	1106	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs896282907 CA268773937	1108	C>S		No	ClinGen TOPMed gnomAD
rs200787930 CA7477125	1110	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775441821 CA7477124	1111	Q>K		No	ClinGen ExAC
rs373488925 CA391705470	1113	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA7477123 rs373488925	1113	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1295970062 CA391705465	1114	E>Q		No	ClinGen TOPMed
rs1374995088 CA391705439	1117	K>*		No	ClinGen TOPMed
rs1468369410 CA391704717	1119	F>L		No	ClinGen TOPMed
rs1488717978 CA391704707	1121	K>E		No	ClinGen gnomAD
CA391704697 rs1285607109	1122	E>A		No	ClinGen gnomAD
CA391704692 rs1238402152	1123	A>T		No	ClinGen TOPMed gnomAD
CA7477105 rs753301403	1123	A>V		No	ClinGen ExAC TOPMed gnomAD
CA7477103 rs759698255	1125	A>V		No	ClinGen ExAC TOPMed gnomAD
CA7477100 rs763121112	1128	E>G		No	ClinGen ExAC TOPMed gnomAD
rs779144751 CA7477101	1128	E>K		No	ClinGen ExAC TOPMed gnomAD
CA391704658 rs763121112	1128	E>V		No	ClinGen ExAC TOPMed gnomAD
rs796933896 CA268773606	1129	A>T		No	ClinGen gnomAD
CA391704651 rs1389137222	1129	A>V		No	ClinGen TOPMed gnomAD
CA391704636 rs1298157077	1131	M>I		No	ClinGen TOPMed gnomAD
CA391704637 rs1298157077	1131	M>I		No	ClinGen TOPMed gnomAD
rs1394996755 CA391704643	1131	M>L		No	ClinGen gnomAD
rs1462919432 CA391704631	1132	K>T		No	ClinGen TOPMed gnomAD
CA391704622 rs1475003888	1133	G>D		No	ClinGen gnomAD
CA7477098 rs186962614	1133	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391704615 rs776671878	1135	E>*		No	ClinGen ExAC gnomAD
rs776671878 CA7477096	1135	E>K		No	ClinGen ExAC gnomAD
rs768457198 CA7477095	1136	A>G		No	ClinGen ExAC gnomAD
CA391704608 rs1189731632	1136	A>P		No	ClinGen TOPMed gnomAD
CA391704609 rs1189731632	1136	A>T		No	ClinGen TOPMed gnomAD
CA7477094 rs746553284	1137	E>D		No	ClinGen ExAC gnomAD
rs1595622296 CA391704592	1138	V>G		No	ClinGen Ensembl
CA391704588 rs1241443830	1139	K>T		No	ClinGen TOPMed
CA7477092 rs758130595	1140	E>K		No	ClinGen ExAC gnomAD
CA7477091 rs554413575	1141	S>L		No	ClinGen ExAC TOPMed gnomAD
rs749837580 CA391704571	1142	V>L		No	ClinGen ExAC TOPMed gnomAD
rs749837580 CA7477089	1142	V>M		No	ClinGen ExAC TOPMed gnomAD
rs200014977 CA7477088	1144	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1334704452 CA391704550	1145	C>S		No	ClinGen gnomAD
CA7477086 rs562540903	1147	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA7477087 rs562540903	1147	R>T		No	ClinGen 1000Genomes ExAC gnomAD
CA391704530 rs1392541531	1148	T>I		No	ClinGen gnomAD
CA391704528 rs1357701959	1149	C>R		No	ClinGen TOPMed
CA391704525 rs1200541164	1149	C>S		No	ClinGen Ensembl
CA7477083 rs763174547	1150	F>L		No	ClinGen ExAC
rs750702293 CA7477082	1151	P>L		No	ClinGen ExAC gnomAD
CA7477079 rs776241846	1153	E>D		No	ClinGen ExAC gnomAD
rs368250656 CA7477080	1153	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA268773478 rs1049370917	1154	A>S		No	ClinGen Ensembl
rs768671486 CA7477078	1154	A>V		No	ClinGen ExAC gnomAD
CA7477077 rs376260840	1155	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7477076 rs775157813	1156	D>G		No	ClinGen ExAC gnomAD
rs771769657 CA7477075	1158	P>T		No	ClinGen ExAC gnomAD
CA391704451 rs1468788623	1161	A>T		No	ClinGen gnomAD
CA391704444 rs1370055884	1162	C>R		No	ClinGen TOPMed
rs1203081147 CA391704432	1163	E>D		No	ClinGen gnomAD
rs756554779 CA7477072	1163	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1349491991 CA391704429	1164	C>R		No	ClinGen gnomAD
rs770464531 CA7477071	1166	P>Q		No	ClinGen ExAC gnomAD
CA391704372 rs1595621649	1172	D>A		No	ClinGen Ensembl
rs748566293 CA7477070	1172	D>N		No	ClinGen ExAC gnomAD
CA391704366 rs1440773273	1173	P>A		No	ClinGen gnomAD
rs1372263511 CA391704343	1176	A>V		No	ClinGen gnomAD
rs1384444254 CA391704330	1178	A>G		No	ClinGen gnomAD
rs1380758111 CA391704332	1178	A>T		No	ClinGen gnomAD
rs1159251267 CA391704319	1180	A>T		No	ClinGen gnomAD
rs1421538869 CA391704306	1182	E>K		No	ClinGen gnomAD
CA391704295 rs1393325666	1183	S>N		No	ClinGen gnomAD
CA7477067 rs752005408	1184	R>C		No	ClinGen ExAC gnomAD
rs61755440 CA7477066	1184	R>H		No	ClinGen ExAC TOPMed gnomAD
CA7477065 rs564692294	1186	L>R		No	ClinGen 1000Genomes ExAC gnomAD

No associated diseases with Q00722

8 regional properties for Q00722

Type	Name	Position	InterPro Accession
domain	C2 domain	662 - 790	IPR000008
domain	Phosphatidylinositol-specific phospholipase C, X domain	312 - 464	IPR000909
domain	Phospholipase C, phosphatidylinositol-specific, Y domain	546 - 662	IPR001711
domain	Phospholipase C-beta, C-terminal domain	979 - 1153	IPR014815
domain	Phosphoinositide-specific phospholipase C, EF-hand-like domain	214 - 304	IPR015359
domain	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2, catalytic domain	311 - 649	IPR028403
domain	PLC-beta, PH domain	12 - 144	IPR037862
domain	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2, EF-hand domain	149 - 299	IPR046969

Functions

		Description
EC Number	3.1.4.11	Phosphoric diester hydrolases
Subcellular Localization
PANTHER Family	PTHR10336	PHOSPHOINOSITIDE-SPECIFIC PHOSPHOLIPASE C FAMILY PROTEIN
PANTHER Subfamily	PTHR10336:SF10	1-PHOSPHATIDYLINOSITOL 4,5-BISPHOSPHATE PHOSPHODIESTERASE BETA-2
PANTHER Protein Class	phospholipase
PANTHER Pathway Category	Inflammation mediated by chemokine and cytokine signaling pathway PLCbetagamma Wnt signaling pathway Phospholipase C Thyrotropin-releasing hormone receptor signaling pathway PLC Heterotrimeric G-protein signaling pathway-Gq alpha and Go alpha mediated pathway Phospholipase C-beta 2-arachidonoylglycerol biosynthesis PLC Endogenous cannabinoid signaling PLC Endothelin signaling pathway PLCbeta Alpha adrenergic receptor signaling pathway PLC Oxytocin receptor mediated signaling pathway PLC beta Angiotensin II-stimulated signaling through G proteins and beta-arrestin PLC 5HT2 type receptor mediated signaling pathway PLC Histamine H1 receptor mediated signaling pathway PLC

4 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
G-protein beta/gamma-subunit complex	The heterodimer formed by the beta and gamma subunits of a heterotrimeric G protein, which dissociates from the alpha subunit upon guanine nuclotide exchange.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

5 GO annotations of molecular function

Name	Definition
calcium ion binding	Binding to a calcium ion (Ca2+).
G-protein beta/gamma-subunit complex binding	Binding to a complex of G-protein beta/gamma subunits.
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.
phospholipid binding	Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester.

8 GO annotations of biological process

Name	Definition
activation of phospholipase C activity	The initiation of the activity of the inactive enzyme phospolipase C as the result of The series of molecular signals generated as a consequence of a G protein-coupled receptor binding to its physiological ligand.
detection of chemical stimulus involved in sensory perception of bitter taste	The series of events required for a bitter taste stimulus to be received and converted to a molecular signal.
G protein-coupled receptor signaling pathway	The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane.
lipid catabolic process	The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent.
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.
phosphatidylinositol-mediated signaling	The series of molecular signals in which a cell uses a phosphatidylinositol-mediated signaling to convert a signal into a response. Phosphatidylinositols include phosphatidylinositol (PtdIns) and its phosphorylated derivatives.
phospholipase C-activating G protein-coupled receptor signaling pathway	A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation of phospholipase C (PLC) and a subsequent increase in the intracellular concentration of inositol trisphosphate (IP3) and diacylglycerol (DAG).
phospholipid metabolic process	The chemical reactions and pathways involving phospholipids, any lipid containing phosphoric acid as a mono- or diester.

28 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P32383	PLC1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase 1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
P10894	PLCB1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1	Bos taurus (Bovine)	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
P19174	PLCG1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1	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
P51432	Plcb3	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3	Mus musculus (Mouse)	SS
Q9Z1B3	Plcb1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1	Mus musculus (Mouse)	SS
A3KGF7	Plcb2	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2	Mus musculus (Mouse)	PR
P10687	Plcb1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1	Rattus norvegicus (Rat)	SS
Q99JE6	Plcb3	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3	Rattus norvegicus (Rat)	SS
O89040	Plcb2	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2	Rattus norvegicus (Rat)	PR
G5EBH0	egl-8	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta egl-8	Caenorhabditis elegans	SS
Q8GV43	PLC6	Phosphoinositide phospholipase C 6	Arabidopsis thaliana (Mouse-ear cress)	PR
Q944C2	PLC5	Phosphoinositide phospholipase C 5	Arabidopsis thaliana (Mouse-ear cress)	PR
Q6NMA7	PLC9	Phosphoinositide phospholipase C 9	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9STZ3	PLC8	Phosphoinositide phospholipase C 8	Arabidopsis thaliana (Mouse-ear cress)	PR
Q56W08	PLC3	Phosphoinositide phospholipase C 3	Arabidopsis thaliana (Mouse-ear cress)	PR
Q39032	PLC1	Phosphoinositide phospholipase C 1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q944C1	PLC4	Phosphoinositide phospholipase C 4	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MSLLNPVLLP	PKVKAYLSQG	ERFIKWDDET	TVASPVILRV	DPKGYYLYWT	YQSKEMEFLD
70	80	90	100	110	120
ITSIRDTRFG	KFAKMPKSQK	LRDVFNMDFP	DNSFLLKTLT	VVSGPDMVDL	TFHNFVSYKE
130	140	150	160	170	180
NVGKAWAEDV	LALVKHPLTA	NASRSTFLDK	ILVKLKMQLN	SEGKIPVKNF	FQMFPADRKR
190	200	210	220	230	240
VEAALSACHL	PKGKNDAINP	EDFPEPVYKS	FLMSLCPRPE	IDEIFTSYHA	KAKPYMTKEH
250	260	270	280	290	300
LTKFINQKQR	DSRLNSLLFP	PARPDQVQGL	IDKYEPSGIN	AQRGQLSPEG	MVWFLCGPEN
310	320	330	340	350	360
SVLAQDKLLL	HHDMTQPLNH	YFINSSHNTY	LTAGQFSGLS	SAEMYRQVLL	SGCRCVELDC
370	380	390	400	410	420
WKGKPPDEEP	IITHGFTMTT	DIFFKEAIEA	IAESAFKTSP	YPIILSFENH	VDSPRQQAKM
430	440	450	460	470	480
AEYCRTIFGD	MLLTEPLEKF	PLKPGVPLPS	PEDLRGKILI	KNKKNQFSGP	TSSSKDTGGE
490	500	510	520	530	540
AEGSSPPSAP	AGEGTVWAGE	EGTELEEEEV	EEEEEEESGN	LDEEEIKKMQ	SDEGTAGLEV
550	560	570	580	590	600
TAYEEMSSLV	NYIQPTKFVS	FEFSAQKNRS	YVISSFTELK	AYDLLSKASV	QFVDYNKRQM
610	620	630	640	650	660
SRIYPKGTRM	DSSNYMPQMF	WNAGCQMVAL	NFQTMDLPMQ	QNMAVFEFNG	QSGYLLKHEF
670	680	690	700	710	720
MRRPDKQFNP	FSVDRIDVVV	ATTLSITVIS	GQFLSERSVR	TYVEVELFGL	PGDPKRRYRT
730	740	750	760	770	780
KLSPSTNSIN	PVWKEEPFVF	EKILMPELAS	LRVAVMEEGN	KFLGHRIIPI	NALNSGYHHL
790	800	810	820	830	840
CLHSESNMPL	TMPALFIFLE	MKDYIPGAWA	DLTVALANPI	KFFSAHDTKS	VKLKEAMGGL
850	860	870	880	890	900
PEKPFPLASP	VASQVNGALA	PTSNGSPAAR	AGAREEAMKE	AAEPRTASLE	ELRELKGVVK
910	920	930	940	950	960
LQRRHEKELR	ELERRGARRW	EELLQRGAAQ	LAELGPPGVG	GVGACKLGPG	KGSRKKRSLP
970	980	990	1000	1010	1020
REESAGAAPG	EGPEGVDGRV	RELKDRLELE	LLRQGEEQYE	CVLKRKEQHV	AEQISKMMEL
1030	1040	1050	1060	1070	1080
AREKQAAELK	ALKETSENDT	KEMKKKLETK	RLERIQGMTK	VTTDKMAQER	LKREINNSHI
1090	1100	1110	1120	1130	1140
QEVVQVIKQM	TENLERHQEK	LEEKQAACLE	QIREMEKQFQ	KEALAEYEAR	MKGLEAEVKE
1150	1160	1170	1180
SVRACLRTCF	PSEAKDKPER	ACECPPELCE	QDPLIAKADA	QESRL