AiPD: Autoinhibited Protein Database

Q86XP0

Gene name	PLA2G4D
Protein name	Cytosolic phospholipase A2 delta
Names	cPLA2-delta, Phospholipase A2 group IVD
Species	Homo sapiens (Human)
KEGG Pathway	hsa:283748
EC number	3.1.1.4: Carboxylic ester hydrolases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-49 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-49 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

4 structures for Q86XP0

Entry ID	Method	Resolution	Chain	Position	Source
5IXC	X-ray	265 A	A/B	2-810	PDB
5IZ5	X-ray	220 A	A/B	2-810	PDB
5IZR	X-ray	325 A	A/B/C/D	2-810	PDB
AF-Q86XP0-F1	Predicted				AlphaFoldDB

796 variants for Q86XP0

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA7507021 rs148416017	2	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA391995939 rs1440225517	3	S>G		No	ClinGen gnomAD
rs768570430 CA391995935	3	S>I		No	ClinGen ExAC gnomAD
CA391995929 rs1211557182	3	S>R		No	ClinGen gnomAD
CA7507019 rs768570430	3	S>T		No	ClinGen ExAC gnomAD
CA391995864 rs1566867721	6	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA7507018 rs144471740	7	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391995841 rs1340348335	8	G>*		No	ClinGen TOPMed
CA7507016 rs539535622	8	G>E		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	8	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs904193736 CA269813164	9	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA391995814 rs1378254805	10	P>H		No	ClinGen gnomAD
CA7507014 rs75734921	10	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7507013 rs75734921	10	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770091021 CA7507012	11	G>D		No	ClinGen ExAC gnomAD
rs1434785017 CA391995791	12	H>Y		No	ClinGen gnomAD
CA391995771 rs1330844785	13	P>S		No	ClinGen TOPMed gnomAD
rs1323813184 CA391995747	14	Y>*		No	ClinGen gnomAD
rs891066443 CA269813133	14	Y>H		No	ClinGen TOPMed
rs201797685 CA7507011	15	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs201797685 CA7507010	15	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA7506989 CA391993934 rs201031755	16	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1187131463 CA391993880	18	A>G		No	ClinGen gnomAD
CA7506988 rs201743053	18	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA269809344 rs201743053	18	A>T		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	18	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372281880 CA7506986	23	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs757568976 CA391993763	24	L>F		No	ClinGen ExAC TOPMed gnomAD
rs757568976 CA7506984	24	L>I		No	ClinGen ExAC TOPMed gnomAD
rs1017342897 CA391993735	27	R>K		No	ClinGen TOPMed gnomAD
CA7506982 rs763762509	27	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1017342897 CA269809294	27	R>T		No	ClinGen TOPMed gnomAD
CA391993732 rs1316396281	28	V>I		No	ClinGen gnomAD
rs1214195748 CA391993708	31	A>V		No	ClinGen gnomAD
rs143243064 CA7506979	32	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs535920392 CA7506980	32	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1049200886 CA269809259	33	N>I		No	ClinGen TOPMed gnomAD
CA7506978 rs759573272	33	N>K		No	ClinGen ExAC gnomAD
TCGA novel	34	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7506977 rs774166970	35	R>C		No	ClinGen ExAC TOPMed gnomAD
rs993180470 CA391993691	35	R>H		No	ClinGen TOPMed gnomAD
CA269809220 rs993180470	35	R>P		No	ClinGen TOPMed gnomAD
CA7506976 rs766129474	36	W>*		No	ClinGen ExAC gnomAD
rs1218671833 CA391993675	38	D>N		No	ClinGen gnomAD
CA7506946 rs370880508	41	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs770154981 CA7506944	44	D>E		No	ClinGen ExAC gnomAD
rs1365178364 CA391993621	44	D>N		No	ClinGen TOPMed gnomAD
rs1365178364 CA391993620	44	D>Y		No	ClinGen TOPMed gnomAD
rs867327180 CA269808844	45	P>S		No	ClinGen Ensembl
CA7506942 rs780737448	47	V>M		No	ClinGen ExAC TOPMed gnomAD
rs751078239 CA7506939	50	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA7506937 COSM147889 rs74977904	52	S>L	stomach [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA7506938 rs74977904	52	S>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761730190 CA7506934	54	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1270461015 CA391993559	54	A>V		No	ClinGen gnomAD
rs1566865740 CA391993556	55	P>S		No	ClinGen Ensembl
rs143687725 CA7506933	56	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1213797595 CA391993552	56	G>R		No	ClinGen gnomAD
CA269808764 rs868280603	57	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA391993546 rs1286691957	57	M>V		No	ClinGen gnomAD
COSM169204 rs767678076 CA7506932	58	K>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA269808759 rs530970409	62	K>E		No	ClinGen gnomAD
CA7506931 rs545262998	63	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7506930 rs774357167	64	L>R		No	ClinGen ExAC gnomAD
rs1167691245 CA391993491	65	T>S		No	ClinGen TOPMed
CA391993485 rs1368538876	66	D>N		No	ClinGen gnomAD
rs763395966 CA7506925	67	T>I		No	ClinGen ExAC gnomAD
rs924589741 CA269808695	68	S>C		No	ClinGen TOPMed gnomAD
rs924589741 CA391993473	68	S>G		No	ClinGen TOPMed gnomAD
CA7506924 rs773716289	69	H>N		No	ClinGen ExAC TOPMed gnomAD
rs944938362 CA269808694	69	H>R		No	ClinGen TOPMed gnomAD
CA391993466 rs773716289	69	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM1235087 rs748485744 CA7506922	70	P>L	lung haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC
rs770106225 CA391993460	70	P>S		No	ClinGen ExAC TOPMed gnomAD
CA7506923 rs770106225	70	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1175760203 CA391993457	71	V>M		No	ClinGen gnomAD
CA391993447 rs1433459162	72	W>*		No	ClinGen gnomAD
rs780877012 CA7506920	73	N>S		No	ClinGen ExAC gnomAD
rs1191007658 CA391993435	74	E>K		No	ClinGen gnomAD
CA391993427 rs1487679619	75	A>T		No	ClinGen gnomAD
rs768234275 CA7506919	76	F>L		No	ClinGen ExAC gnomAD
CA7506917 COSM961667 rs779653077	77	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM295834 CA7506916 rs757985311	77	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7506915 rs745758646	78	F>L		No	ClinGen ExAC gnomAD
rs138647693 CA7506913	81	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs986669813 CA269808616	84	V>A		No	ClinGen TOPMed gnomAD
rs751743855 CA7506889	87	V>I		No	ClinGen ExAC gnomAD
rs1367317130 CA391992668	88	L>M		No	ClinGen gnomAD
CA7506888 rs766613377	90	L>F		No	ClinGen ExAC gnomAD
rs182717725 CA7506887	91	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391992645 rs750543528	91	S>R		No	ClinGen ExAC TOPMed gnomAD
CA7506885 rs765770804	92	I>M		No	ClinGen ExAC TOPMed gnomAD
rs376971879 CA7506884	93	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391992626 rs1264927612	94	D>G		No	ClinGen TOPMed gnomAD
CA391992610 rs767943934	96	D>G		No	ClinGen TOPMed
rs1247437888 CA391992613	96	D>N		No	ClinGen gnomAD
rs767943934 CA269807869	96	D>V		No	ClinGen TOPMed
rs777200173 CA7506883	99	T>A		No	ClinGen ExAC gnomAD
rs189676159 CA269807851	101	D>A		No	ClinGen 1000Genomes
rs1336650874 CA391992577	101	D>E		No	ClinGen gnomAD
rs189676159 CA391992579	101	D>G		No	ClinGen 1000Genomes
CA269807841 rs988559228	106	K>R		No	ClinGen Ensembl
CA7506879 rs775258239	107	V>F		No	ClinGen ExAC TOPMed gnomAD
CA7506878 rs771888079	109	Y>C		No	ClinGen ExAC gnomAD
rs186072813 CA7506877	111	I>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774057876 CA7506876	112	S>L		No	ClinGen ExAC TOPMed gnomAD
CA7506875 rs770491684	114	V>I		No	ClinGen ExAC gnomAD
COSM140060 CA7506871 rs747988372	116	P>S	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs936347833 CA269807791	117	G>D		No	ClinGen TOPMed
CA391992476 rs1184323898	117	G>S		No	ClinGen gnomAD
TCGA novel	117	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780219821 CA7506870	120	L>F		No	ClinGen ExAC
CA7506868 rs145079487	121	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1372902 CA7506869 rs369408360	121	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA7506867 rs778791972	122	K>N		No	ClinGen ExAC gnomAD
CA7506866 rs757388815	123	T>S		No	ClinGen ExAC gnomAD
TCGA novel	124	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA269807727 rs565077748	125	S>P		No	ClinGen 1000Genomes TOPMed
CA391992420 rs1351917836	126	Q>H		No	ClinGen gnomAD
CA7506865 rs754248396	126	Q>P		No	ClinGen ExAC gnomAD
CA391992416 rs1281631456	127	S>C		No	ClinGen gnomAD
CA391992411 rs1230655455	127	S>R		No	ClinGen gnomAD
CA7506864 rs764709418	129	Q>E		No	ClinGen ExAC gnomAD
CA391992400 rs1566865282	129	Q>H		No	ClinGen Ensembl
rs551467657 CA391992401	129	Q>P		No	ClinGen 1000Genomes gnomAD
rs551467657 CA7506862	129	Q>R		No	ClinGen 1000Genomes gnomAD
rs1282363820 CA391992283	133	E>Q		No	ClinGen gnomAD
rs113573325 CA269807274	134	L>M		No	ClinGen Ensembl
CA7506827 rs746853990	136	V>M		No	ClinGen ExAC gnomAD
rs771247934 CA7506825	137	E>G		No	ClinGen ExAC TOPMed gnomAD
CA269807261 rs891676970	138	F>L		No	ClinGen Ensembl
rs1398401344 CA391992159	140	M>R		No	ClinGen gnomAD
TCGA novel	143	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1169960193 CA391992105	143	T>K		No	ClinGen gnomAD
rs1169960193 CA391992102	143	T>M		No	ClinGen gnomAD
CA391991980 rs1352776868	145	D>G		No	ClinGen gnomAD
rs780408877 CA7506792	145	D>H		No	ClinGen ExAC gnomAD
CA391991967 rs549304409	146	R>C		No	ClinGen 1000Genomes TOPMed gnomAD
CA269806906 rs549304409	146	R>G		No	ClinGen 1000Genomes TOPMed gnomAD
rs758695188 CA7506791	146	R>H		No	ClinGen ExAC TOPMed gnomAD
CA391991957 rs758695188	146	R>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	148	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7506789 rs764918142	149	N>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	149	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391991168 rs1303166328	151	I>T		No	ClinGen TOPMed
TCGA novel	152	T>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1366225843 CA391991155	152	T>I		No	ClinGen TOPMed gnomAD
rs1366225843 CA391991157	152	T>S		No	ClinGen TOPMed gnomAD
rs1487505718 CA391991141	153	N>K		No	ClinGen gnomAD
CA7506787 rs1555391829	155	V>I		No	ClinGen Ensembl
rs777194530 CA7506766	159	R>*		No	ClinGen ExAC TOPMed gnomAD
rs777194530 CA391991030	159	R>G		No	ClinGen ExAC TOPMed gnomAD
rs755607084 CA7506765	159	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7506764 rs200568447	161	L>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	163	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759346619 CA7506762	167	H>D		No	ClinGen ExAC gnomAD
rs759346619 CA391990932	167	H>Y		No	ClinGen ExAC gnomAD
rs1358352478 CA391990915	168	L>P		No	ClinGen gnomAD
rs1335834332 CA391990902	169	D>G		No	ClinGen gnomAD
rs1262251861 CA391990844	171	T>I		No	ClinGen gnomAD
TCGA novel	171	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1203315627 CA391990839	172	G>R		No	ClinGen gnomAD
rs151147795 CA7506758	173	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA391990795 rs368159021	173	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7506759 rs151147795	173	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7506755 rs144279282	174	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144279282 CA7506756	174	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1296950760 CA391990792	174	T>P		No	ClinGen gnomAD
CA7506753 rs776034188	175	A>T		No	ClinGen ExAC TOPMed gnomAD
CA391990768 rs1170300955	175	A>V		No	ClinGen TOPMed gnomAD
rs772519597 CA7506752	176	V>G		No	ClinGen ExAC TOPMed gnomAD
CA7506751 rs746216549	178	A>S		No	ClinGen ExAC TOPMed gnomAD
CA391990739 rs746216549	178	A>T		No	ClinGen ExAC TOPMed gnomAD
CA391990539 rs1291728268	179	D>E		No	ClinGen gnomAD
rs771287523 CA391990722	179	D>H		No	ClinGen ExAC gnomAD
CA7506749 rs771287523	179	D>N		No	ClinGen ExAC gnomAD
TCGA novel	186	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1335964512 CA391990335	187	L>R		No	ClinGen TOPMed gnomAD
rs1400131644 CA391990288	190	K>T		No	ClinGen TOPMed
CA7506717 rs767451147	191	G>W		No	ClinGen ExAC
CA391990265 rs1595596262	193	Y>*		No	ClinGen Ensembl
CA391990268 rs1448397660	193	Y>C		No	ClinGen TOPMed gnomAD
rs774814909 CA7506715	194	E>G		No	ClinGen ExAC gnomAD
CA7506714 rs766914146	195	D>Y		No	ClinGen ExAC gnomAD
rs1359815181 CA391990249	196	T>A		No	ClinGen TOPMed
CA391990245 rs1157770455	196	T>I		No	ClinGen TOPMed gnomAD
CA391990247 rs1157770455	196	T>K		No	ClinGen TOPMed gnomAD
rs763305792 CA269805546	197	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs763305792 CA7506713	197	Q>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	199	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777483297 CA269805537	199	S>T		No	ClinGen TOPMed gnomAD
rs1042160191 CA269805533	199	S>Y		No	ClinGen Ensembl
CA391990211 rs1184200418	202	G>D		No	ClinGen gnomAD
rs1595596245 CA391990215	202	G>S		No	ClinGen Ensembl
CA391990208 rs1208998082	203	T>A		No	ClinGen TOPMed
CA391990204 rs1479510002	203	T>I		No	ClinGen TOPMed gnomAD
CA391990203 rs1488647818	204	A>T		No	ClinGen TOPMed
rs1268237577 CA391990192	205	S>F		No	ClinGen gnomAD
rs375166725 CA7506711	208	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7506710 rs189743179	208	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768233595 CA7506708	209	F>L		No	ClinGen ExAC gnomAD
rs776377256 CA7506709	209	F>S		No	ClinGen ExAC gnomAD
CA7506706 rs147259318	210	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7506707 rs140379004	210	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA391990165 rs1466794070	210	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA391990155 rs1283363075	211	Y>*		No	ClinGen gnomAD
CA391990158 rs1344367016	211	Y>C		No	ClinGen gnomAD
CA269805495 rs964436939	211	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1406758999 CA391990147	212	M>K		No	ClinGen TOPMed gnomAD
CA391990149 rs1406758999	212	M>T		No	ClinGen TOPMed gnomAD
CA7506705 rs758466010	214	A>T		No	ClinGen ExAC gnomAD
CA7506704 rs745831428	216	E>K		No	ClinGen ExAC gnomAD
CA269805482 rs911316055	221	G>E		No	ClinGen TOPMed
CA391990034 rs1220804611	221	G>R		No	ClinGen Ensembl
CA7506700 COSM1372901 rs781439174	222	R>C	Variant assessed as Somatic; 9.264e-05 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7506699 rs548158271	222	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766862758 CA7506697	224	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1205119126 CA391989031	228	S>C		No	ClinGen TOPMed gnomAD
CA7506672 rs750846621	228	S>T		No	ClinGen ExAC gnomAD
rs765824104 CA7506671	229	N>T		No	ClinGen ExAC gnomAD
rs754311946 CA7506669	232	N>D		No	ClinGen ExAC gnomAD
rs764564949 CA7506668	232	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1451649111 CA391988927	234	D>N		No	ClinGen gnomAD
rs199834138 CA7506666	237	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201139245 COSM3794162 CA7506665	238	G>R	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA391988831 rs1595595690	239	Y>D		No	ClinGen Ensembl
CA391988813 rs1291863763	240	L>F		No	ClinGen gnomAD
TCGA novel	243	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391988776 rs1566863713	243	P>S		No	ClinGen Ensembl
CA7506658 rs140968583	249	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA391988735 rs1476036240	250	G>R		No	ClinGen TOPMed
CA391988729 rs1186228463	251	K>Q		No	ClinGen TOPMed
rs144365325 CA7506657	251	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA391988720 rs1566863689	252	E>A		No	ClinGen Ensembl
rs758388698 CA7506656	252	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs951933433 CA269804475	252	E>K		No	ClinGen TOPMed gnomAD
CA269804461 rs989378174	253	V>A		No	ClinGen Ensembl
rs989378174 CA391988712	253	V>G		No	ClinGen Ensembl
rs1027545073 CA269804453	254	T>S		No	ClinGen TOPMed
CA7506655 rs746000920	256	D>H		No	ClinGen ExAC TOPMed gnomAD
rs149642630 CA7506654	258	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7506635 rs199624325	262	A>G		No	ClinGen 1000Genomes ExAC gnomAD
CA7506634 rs199624325	262	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs150830051 CA7506633	264	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs753177642 CA7506632	265	V>L		No	ClinGen ExAC TOPMed gnomAD
CA391988582 rs1426673099	266	R>G		No	ClinGen gnomAD
CA7506631 rs767060712	266	R>K		No	ClinGen ExAC gnomAD
CA269804161 rs141982061	267	L>M		No	ClinGen ESP TOPMed
rs751180210 CA7506629	268	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA391988553 rs751180210	268	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs765876912 CA7506628	269	L>P		No	ClinGen ExAC gnomAD
CA7506627 rs200964230	272	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391988425 rs1335732668	275	P>A		No	ClinGen TOPMed gnomAD
rs11635685 CA7506603	275	P>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7506602 rs11635685 VAR_057676	275	P>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA391988424 rs1335732668	275	P>S		No	ClinGen TOPMed gnomAD
rs1460992954 CA391988376	278	L>R		No	ClinGen gnomAD
CA391988365 rs1373575186	279	A>G		No	ClinGen gnomAD
CA391988363 rs1373575186	279	A>V		No	ClinGen gnomAD
CA7506599 rs771342321	280	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1395639976 CA391988338	281	H>Q		No	ClinGen TOPMed
CA7506597 rs773365308	282	L>P		No	ClinGen ExAC gnomAD
rs1258464969 CA391988317	283	G>A		No	ClinGen gnomAD
rs1566863419 CA391988298	285	N>H		No	ClinGen Ensembl
rs373870696 CA7506594	285	N>S		No	ClinGen ESP ExAC
rs769043261 CA391988280	286	L>H		No	ClinGen ExAC gnomAD
CA7506593 rs769043261	286	L>P		No	ClinGen ExAC gnomAD
rs145074941 CA269803937	288	A>G		No	ClinGen ESP TOPMed gnomAD
CA391988259 rs1480327221	288	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1392565961 CA391988241	289	E>D		No	ClinGen TOPMed
rs779753903 CA7506591	290	E>K		No	ClinGen ExAC gnomAD
rs1337976005 CA391988222	291	Q>*		No	ClinGen Ensembl
rs930427250 CA269803913	292	A>D		No	ClinGen TOPMed gnomAD
rs758107189 CA7506590	292	A>P		No	ClinGen ExAC gnomAD
CA269803922 rs758107189	292	A>T		No	ClinGen ExAC gnomAD
rs778353977 CA7506588	295	S>I		No	ClinGen ExAC gnomAD
rs142515758 CA7506586	296	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA269803844 rs936481930	297	R>G		No	ClinGen Ensembl
TCGA novel	297	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763974652 CA7506585	299	Q>R		No	ClinGen ExAC gnomAD
CA7506584 rs760511047	300	V>M		No	ClinGen ExAC TOPMed gnomAD
CA391988050 rs1163999158	302	A>D		No	ClinGen gnomAD
CA269803809 rs926515052	303	K>E		No	ClinGen Ensembl
CA7506582 rs566141126	303	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA7506580 rs199591008	307	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs773602556 CA7506579	308	A>G		No	ClinGen ExAC TOPMed gnomAD
CA7506577 rs761852330	310	Q>K		No	ClinGen ExAC TOPMed
rs1185057156 CA391987863	312	D>E		No	ClinGen TOPMed gnomAD
CA7506576 rs777165562	313	R>T		No	ClinGen ExAC gnomAD
rs1291616710 CA391987825	314	D>N		No	ClinGen gnomAD
CA269803798 rs747387743	316	Q>*		No	ClinGen ExAC gnomAD
rs747387743 CA7506574	316	Q>K		No	ClinGen ExAC gnomAD
CA269803781 rs867139822	317	E>K		No	ClinGen Ensembl
TCGA novel	318	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376077511 CA7506573	318	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA7506549 rs373289672	320	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs373289672 CA391987503 CA269803279	320	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7506547 rs781331722	321	P>L		No	ClinGen ExAC gnomAD
rs748052934 CA7506548	321	P>S		No	ClinGen ExAC gnomAD
CA391987476 rs1386153580	322	V>A		No	ClinGen TOPMed
CA7506545 rs77803799	322	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs77803799 CA7506544	322	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs551671167 CA7506542	323	V>A		No	ClinGen 1000Genomes ExAC gnomAD
CA7506543 rs757365797	323	V>M		No	ClinGen ExAC TOPMed gnomAD
rs764029856 CA7506541	326	M>I		No	ClinGen ExAC gnomAD
rs1326779717 CA391987418	326	M>V		No	ClinGen TOPMed
rs760857380 CA391987385	327	A>S		No	ClinGen ExAC gnomAD
rs760857380 CA7506540	327	A>T		No	ClinGen ExAC gnomAD
CA391987380 rs1370561104	327	A>V		No	ClinGen TOPMed
rs188118635 CA269803206	329	G>E		No	ClinGen 1000Genomes gnomAD
CA391987291 rs1322859282	330	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1367027987 CA391987303	330	G>R		No	ClinGen gnomAD
rs775943955 CA7506539	331	G>C		No	ClinGen ExAC gnomAD
CA391987230 rs1358720870	332	A>S		No	ClinGen gnomAD
rs759876972 COSM1740206 CA7506537	333	R>Q	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed
RCV000973521 rs56985825 CA7506538	333	R>W		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs774637140 CA7506536	334	A>P		No	ClinGen ExAC TOPMed gnomAD
CA269803152 rs898894977	335	M>I		No	ClinGen TOPMed
rs762471614 CA7506534	335	M>V		No	ClinGen ExAC TOPMed gnomAD
CA7506533 rs772942723	336	T>N		No	ClinGen ExAC gnomAD
rs1234100502 CA391986953	340	G>D		No	ClinGen TOPMed
rs142001551 CA391986962	340	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs142001551 CA7506528	340	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs975853211 CA269803073	341	H>R		No	ClinGen Ensembl
rs1312636565 CA391986881	342	L>I		No	ClinGen TOPMed gnomAD
CA391986836 rs1284965024	343	L>*		No	ClinGen gnomAD
TCGA novel	344	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391986739 rs1409702402	346	Q>K		No	ClinGen TOPMed
CA7506523 rs778093509	350	L>I		No	ClinGen ExAC gnomAD
rs966197820 CA269803059	352	D>Y		No	ClinGen gnomAD
rs1165398731 CA391986543	353	C>S		No	ClinGen TOPMed
CA269803036 rs913434794	353	C>Y		No	ClinGen Ensembl
CA7506522 rs756139181	355	T>N		No	ClinGen ExAC TOPMed gnomAD
CA7506521 rs752831939	356	Y>H		No	ClinGen ExAC gnomAD
rs1372856712 CA391985688	360	I>V		No	ClinGen gnomAD
rs759968770 CA7506520	362	G>A		No	ClinGen ExAC gnomAD
rs759968770 CA7506519	362	G>D		No	ClinGen ExAC gnomAD
CA7506518 rs752089943	363	S>F		No	ClinGen ExAC TOPMed gnomAD
CA7506517 rs371423362	364	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA7506486 rs781443451	367	M>V		No	ClinGen ExAC gnomAD
CA391985150 rs1175362455	368	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7506485 rs755021428	370	L>P		No	ClinGen ExAC gnomAD
CA391985069 rs755021428	370	L>Q		No	ClinGen ExAC gnomAD
CA391985060 rs755021428	370	L>R		No	ClinGen ExAC gnomAD
CA391985023 rs1262224631	371	Y>C		No	ClinGen gnomAD
rs747181263 CA7506484	372	G>E		No	ClinGen ExAC
rs1247665671 CA391985006	372	G>R		No	ClinGen TOPMed gnomAD
CA269798709 rs868324508	373	D>N		No	ClinGen Ensembl
rs147588006 CA7506483	376	W>C		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	377	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1254327941 CA391984863	377	S>L		No	ClinGen gnomAD
rs758886570 CA7506482	379	R>G		No	ClinGen ExAC gnomAD
rs1333911196 CA391984805	379	R>K		No	ClinGen TOPMed
rs1031762178 CA269798694	380	D>Y		No	ClinGen Ensembl
CA391984644 rs1213205790	383	G>R		No	ClinGen gnomAD
CA7506480 rs765660120	385	I>V		No	ClinGen ExAC gnomAD
rs751376810 CA269798688	386	R>G		No	ClinGen TOPMed
CA391984410 rs1403343484	388	A>D		No	ClinGen TOPMed gnomAD
CA391984446 rs999909538	388	A>S		No	ClinGen TOPMed gnomAD
COSM1220851 rs999909538 CA269798685	388	A>T	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs375189436 CA7506477	389	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs753508253 CA7506478	389	R>W		No	ClinGen ExAC gnomAD
CA7506476 rs760087005	392	L>P		No	ClinGen ExAC gnomAD
CA7506475 rs199835123	393	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766940241 CA7506474	394	K>M		No	ClinGen ExAC gnomAD
TCGA novel	395	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770688776 CA7506471	398	E>G		No	ClinGen ExAC gnomAD
rs774177182 CA7506472	398	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs749123937 CA7506470	399	V>I		No	ClinGen ExAC gnomAD
rs776830539 CA7506469	401	S>P		No	ClinGen ExAC gnomAD
CA7506468 rs768924485	402	P>S		No	ClinGen ExAC gnomAD
rs780118874 CA7506466	404	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1298784877 CA391983967	404	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA391983953 rs1248917865	405	L>P		No	ClinGen TOPMed
rs202036676 CA7506463	406	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746340363 CA7506464	406	A>P		No	ClinGen ExAC
rs746340363 CA269798640	406	A>T		No	ClinGen ExAC
rs542084472 CA7506460	407	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs542084472 CA7506461	407	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1595594067 CA391983920	408	Y>S		No	ClinGen Ensembl
rs755724653 CA391983907	409	R>C		No	ClinGen ExAC gnomAD
CA7506459 rs755724653	409	R>G		No	ClinGen ExAC gnomAD
CA7506457 rs139838585	410	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7506458 rs752322041	410	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1595594047 CA391983898	411	E>K		No	ClinGen Ensembl
rs372294896 CA7506456	412	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA391983874 rs1170265758	415	R>W		No	ClinGen gnomAD
CA269798578 rs990961668	416	A>T		No	ClinGen TOPMed
rs1422443429 CA391983862	417	E>A		No	ClinGen gnomAD
TCGA novel	419	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1595594024 CA391983840	420	H>R		No	ClinGen Ensembl
CA391983830 rs1424515288	421	P>L		No	ClinGen TOPMed gnomAD
CA7506452 rs556925463	422	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7506451 rs556925463	422	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs556925463 CA269798543	422	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1275896788 CA391983821	423	T>I		No	ClinGen gnomAD
TCGA novel	423	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7506446 rs746000051	429	A>V		No	ClinGen ExAC TOPMed gnomAD
CA269798506 rs959508458	430	L>P		No	ClinGen TOPMed
rs771503723 CA7506444	430	L>V		No	ClinGen ExAC gnomAD
rs151093842 CA7506443	433	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1408626551 CA391983764	433	E>A		No	ClinGen gnomAD
CA7506442 rs151093842	433	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs4924618 CA391983758	434	S>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_057677 rs4924618 CA7506441	434	S>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7506439 rs780745838	435	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1198719089 CA391983753	435	M>V		No	ClinGen TOPMed
rs754509238 CA7506438	436	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1162958968 CA391983731	438	G>D		No	ClinGen TOPMed gnomAD
CA269798485 rs921334601	438	G>R		No	ClinGen TOPMed
rs1162958968 CA391983730	438	G>V		No	ClinGen TOPMed gnomAD
rs1370362131 CA391983726	439	Q>P		No	ClinGen gnomAD
rs1595590833 CA391980469	441	M>I		No	ClinGen Ensembl
CA269794373 rs1026306256	441	M>L		No	ClinGen TOPMed
CA391980478 rs1434639034	441	M>T		No	ClinGen TOPMed gnomAD
CA7506410 rs763949364	442	D>Y		No	ClinGen ExAC gnomAD
rs1402158741 CA391980216	449	R>G		No	ClinGen gnomAD
rs1322696056 CA391980184	450	A>P		No	ClinGen gnomAD
rs1011917793 CA269794366 COSM961661	450	A>V	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs148579768 CA7506404	451	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs148579768 CA7506405	451	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1187604334 CA391980140	451	A>V		No	ClinGen gnomAD
TCGA novel	453	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391980099 rs1207455815	453	E>G		No	ClinGen gnomAD
CA7506402 rs776794190	453	E>K		No	ClinGen ExAC gnomAD
CA391980080 rs746619074	454	R>P		No	ClinGen ExAC TOPMed gnomAD
CA7506400 rs746619074	454	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7506401 rs370748980	454	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA7506399 rs376735670	455	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7506398 rs757876193	455	G>V		No	ClinGen ExAC gnomAD
rs1395212822 CA391980001	456	Q>H		No	ClinGen TOPMed
rs1595590783 CA391979998	457	N>D		No	ClinGen Ensembl
rs778496368 CA7506395	457	N>K		No	ClinGen ExAC gnomAD
rs938384920 CA391979947	458	P>S		No	ClinGen gnomAD
rs938384920 CA269794325	458	P>T		No	ClinGen gnomAD
CA269794323 rs867166631	460	P>L		No	ClinGen Ensembl
rs1595590767 CA391979890	460	P>S		No	ClinGen Ensembl
CA391979702 rs1272104801	465	L>F		No	ClinGen gnomAD
rs757072356 CA7506394	466	N>S		No	ClinGen ExAC TOPMed gnomAD
rs143657689 CA7506393	469	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391979457 rs1392216179	471	N>S		No	ClinGen TOPMed
rs1287732543 CA391979424	472	L>R		No	ClinGen TOPMed
TCGA novel	473	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1437110719 CA391979418	473	E>K		No	ClinGen gnomAD
CA7506392 rs140046515	475	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391978983 rs1327142001	479	E>G		No	ClinGen gnomAD
CA7506368 rs781149855	480	W>*		No	ClinGen ExAC TOPMed gnomAD
CA7506369 rs752597094	480	W>*		No	ClinGen ExAC gnomAD
CA391978843 rs1376055242	481	V>I		No	ClinGen gnomAD
rs146080339 CA7506367	484	S>F		No	ClinGen ESP ExAC gnomAD
CA269794016 rs146080339	484	S>Y		No	ClinGen ESP ExAC gnomAD
CA7506365 rs199959919	485	P>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199959919 CA7506363	485	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199959919 CA7506364	485	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7506362 rs142872485	486	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391978583 rs142872485	486	Y>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1002794301 CA269793981	487	E>K		No	ClinGen Ensembl
rs72489212 CA7506357	489	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs72489212 CA7506358	489	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141280268 CA7506356	490	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA391978351 rs1422893825	492	K>N		No	ClinGen gnomAD
CA391978312 rs141287940	493	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7506355 rs770315347	493	Y>F		No	ClinGen ExAC gnomAD
CA7506352 CA7506353 rs769798028	494	G>R		No	ClinGen ExAC TOPMed gnomAD
CA391978293 rs769798028	494	G>W		No	ClinGen ExAC TOPMed gnomAD
CA7506351 rs201939272	495	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391978259 rs1215756519	495	A>T		No	ClinGen TOPMed gnomAD
rs201939272 CA391978233	495	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765518884 CA7506348	497	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA269793886 rs915469186	498	P>L		No	ClinGen TOPMed gnomAD
CA7506345 rs754010711	499	P>S		No	ClinGen ExAC TOPMed gnomAD
rs146739833 CA7506344	500	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7506342 rs753220405	501	L>H		No	ClinGen ExAC gnomAD
rs753220405 CA269793853	501	L>P		No	ClinGen ExAC gnomAD
rs761128032 CA7506343	501	L>V		No	ClinGen ExAC gnomAD
CA7506339 rs191357380	503	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7506338 rs191357380	503	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772781938 CA7506336	505	E>K		No	ClinGen ExAC TOPMed gnomAD
rs748051102 CA7506334	508	M>K		No	ClinGen ExAC TOPMed gnomAD
CA7506335 rs748051102	508	M>T		No	ClinGen ExAC TOPMed gnomAD
rs781329588 CA269793809	509	G>*		No	ClinGen ExAC gnomAD
CA391977749 rs1447897877	509	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs781329588 CA7506333	509	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7506331 rs574116485	510	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs375309510 CA7506332	510	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs757446171 CA7506330 CA7506329	512	M>I		No	ClinGen ExAC TOPMed gnomAD
rs749540264 CA7506328	513	R>K		No	ClinGen ExAC gnomAD
CA391977624 rs964165393 COSM3794161	513	R>S	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1163001045 CA391977608	514	R>K		No	ClinGen TOPMed
CA7506327 rs777776875	515	I>L		No	ClinGen ExAC gnomAD
rs111407404 CA7506325	516	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA269793742 rs111407404	516	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768077510 CA7506324	517	E>D		No	ClinGen ExAC gnomAD
rs1362132727 CA391977509	517	E>K		No	ClinGen gnomAD
rs537584178 CA7506323	518	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766658911 CA7506321	519	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7506322 rs751893544	519	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM3420294 CA7506302 rs146947997	528	S>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA391977010 rs1475547920	530	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7506300 rs1555390942	530	I>V		No	ClinGen Ensembl
rs201528979 CA269793514	531	F>S		No	ClinGen 1000Genomes
rs1269003750 CA391976957	533	L>P		No	ClinGen TOPMed
rs748956119 CA7506297	535	L>V		No	ClinGen ExAC TOPMed gnomAD
CA391976882 rs1482973617	536	L>P		No	ClinGen gnomAD
CA7506296 rs148855827	538	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1197870033 CA391976828	538	A>V		No	ClinGen gnomAD
CA391976770 rs1375456254	541	D>G		No	ClinGen TOPMed
CA7506295 rs750070514	542	L>F		No	ClinGen ExAC gnomAD
rs765053168 CA7506294	543	T>A		No	ClinGen ExAC TOPMed gnomAD
rs776227820 CA7506292	544	S>G		No	ClinGen ExAC gnomAD
rs776227820 CA269793460	544	S>R		No	ClinGen ExAC gnomAD
rs1336187465 CA391976682	547	E>K		No	ClinGen gnomAD
CA391976582 rs1330652521	552	H>Y		No	ClinGen gnomAD
rs760609057 CA7506290	556	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA269793431 rs952316552	557	T>A		No	ClinGen TOPMed gnomAD
rs1462072700 CA391976434	560	L>S		No	ClinGen gnomAD
CA7506268 rs767412001	562	K>R		No	ClinGen ExAC gnomAD
CA7506266 rs774065519	564	P>H		No	ClinGen ExAC TOPMed gnomAD
COSM470627 CA7506267 rs774065519	564	P>L	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA391976302 rs1286309204	564	P>S		No	ClinGen gnomAD
rs770743738 CA7506265	565	L>V		No	ClinGen ExAC gnomAD
rs1236139719 CA391976257	566	T>A		No	ClinGen gnomAD
CA391976242 rs1595590070	567	T>P		No	ClinGen Ensembl
CA7506262 rs200157738	568	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA7506261 rs145526723	570	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs145526723 CA391976175	570	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7506260 rs780601008	571	S>F		No	ClinGen ExAC TOPMed gnomAD
CA7506259 rs201215679	572	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7506255 rs575339272	573	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs575339272 CA269793260	573	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs17747505 CA7506256 VAR_027049	573	R>W		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7506253 rs755634539	575	E>K		No	ClinGen ExAC TOPMed gnomAD
CA7506252 rs752088767	576	A>G		No	ClinGen ExAC TOPMed gnomAD
rs759427519 CA7506250	577	S>L		No	ClinGen ExAC gnomAD
CA7506251 rs139975594	577	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs139975594 CA391976063	577	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1566860057 CA391976038	578	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs369257424 CA7506246	578	W>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA391976042 rs762698225	578	W>G		No	ClinGen ExAC TOPMed gnomAD
CA7506247 rs762698225	578	W>R		No	ClinGen ExAC TOPMed gnomAD
rs911394090 CA391975890	583	T>M		No	ClinGen TOPMed gnomAD
rs911394090 CA269793190	583	T>R		No	ClinGen TOPMed gnomAD
CA7506243 rs775370281	584	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7506242 rs772313158	584	A>V		No	ClinGen ExAC TOPMed gnomAD
CA391975808 rs1355417060	586	A>S		No	ClinGen gnomAD
CA391975826 rs1355417060	586	A>T		No	ClinGen gnomAD
CA7506239 rs771415719	588	A>S		No	ClinGen ExAC TOPMed gnomAD
rs771415719 CA391975773	588	A>T		No	ClinGen ExAC TOPMed gnomAD
rs778212091 CA7506237	589	F>C		No	ClinGen ExAC TOPMed gnomAD
CA7506236 rs201990564	589	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1369092667 CA391975762	589	F>L		No	ClinGen gnomAD
CA7506233 rs376232407	591	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs747865056 CA7506235	591	G>S		No	ClinGen ExAC gnomAD
rs376232407 CA7506234	591	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1450271025 CA391975666	592	F>L		No	ClinGen TOPMed
rs952473322 CA269793132	593	L>R		No	ClinGen TOPMed
rs1474568793 CA391975568	596	R>K		No	ClinGen TOPMed gnomAD
CA7506231 rs766371830	597	P>A		No	ClinGen ExAC TOPMed
rs143912785 CA7506230	597	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391975545 rs766371830	597	P>T		No	ClinGen ExAC TOPMed
CA7506228 rs765087738	598	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7506227 rs760772564	599	H>Q		No	ClinGen ExAC gnomAD
CA391975441 rs1324380790	600	Q>*		No	ClinGen gnomAD
rs778900492 COSM961658 CA269793095	601	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs78165678 CA7506226	601	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391975372 rs1595589908	603	P>T		No	ClinGen Ensembl
CA7506225 rs372910107	604	N>S		No	ClinGen ExAC gnomAD
CA7506224 rs759753605	606	L>P		No	ClinGen ExAC gnomAD
rs749803823 CA7506221	610	Q>H		No	ClinGen ExAC gnomAD
CA7506217 rs548640184	612	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770217399 CA7506218	612	H>Y		No	ClinGen ExAC gnomAD
CA391975043 rs1278718990	614	D>E		No	ClinGen TOPMed
CA7506216 rs780863436	614	D>G		No	ClinGen ExAC gnomAD
CA391974982 rs1167083745	616	C>*		No	ClinGen gnomAD
rs754482228 CA7506215	616	C>F		No	ClinGen ExAC gnomAD
CA391975024 rs1424883476	616	C>G		No	ClinGen gnomAD
rs1201712063 CA391974968	617	S>N		No	ClinGen TOPMed
TCGA novel	620	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	621	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA269793066 rs761581153	622	S>C		No	ClinGen Ensembl
rs953878853 CA269793061	623	T>I		No	ClinGen Ensembl
rs1240557118 CA391974829 CA391974830	624	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed NCI-TCGA
CA391974823 rs1177601143	625	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA391974804 rs1422098788	626	D>N		No	ClinGen TOPMed
rs77186114 CA7506186	627	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7506185 rs750891398	628	Q>P		No	ClinGen ExAC gnomAD
CA391974636 rs1261118629	629	L>F		No	ClinGen gnomAD
CA391974615 rs1370617391	630	D>G		No	ClinGen TOPMed
CA7506183 rs762323928	631	S>C		No	ClinGen ExAC TOPMed gnomAD
CA7506184 rs762323928	631	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1337167564 CA391974573	632	M>R		No	ClinGen gnomAD
CA391974580 rs1255979804	632	M>V		No	ClinGen gnomAD
rs1210646662 CA391974558	633	P>A		No	ClinGen gnomAD
CA7506182 rs776916762	633	P>R		No	ClinGen ExAC gnomAD
rs1224774728 CA391974492	635	Q>*		No	ClinGen gnomAD
CA7506180 rs769042898	635	Q>H		No	ClinGen ExAC gnomAD
rs775265815 CA7506178	637	T>I		No	ClinGen ExAC TOPMed gnomAD
rs775265815 CA391974411	637	T>N		No	ClinGen ExAC TOPMed gnomAD
CA269792861 rs775265815	637	T>S		No	ClinGen ExAC TOPMed gnomAD
CA7506177 rs771474176	638	P>H		No	ClinGen ExAC gnomAD
rs74678783 CA7506176	639	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371176959 CA7506175	639	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA391974300 rs1377040048	641	P>S		No	ClinGen gnomAD
rs749267506 CA7506173 COSM327495	642	R>Q	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA7506174 rs371878017	642	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1381536719 CA391974248	643	L>F		No	ClinGen gnomAD
CA391974215 rs1566859778	644	C>F		No	ClinGen Ensembl
CA269792822 rs777661630	645	L>P		No	ClinGen ExAC TOPMed gnomAD
rs777661630 CA7506171	645	L>Q		No	ClinGen ExAC TOPMed gnomAD
rs1595589608 CA391974127	647	D>A		No	ClinGen Ensembl
rs374601499 CA7506167	648	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
VAR_027050 CA7506164 rs17690899	649	A>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs765238528 CA7506165	649	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7506162 rs539570150	650	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754368020 CA7506163	650	Y>C		No	ClinGen ExAC gnomAD
rs754368020 CA391973999	650	Y>F		No	ClinGen ExAC gnomAD
TCGA novel	652	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1331986241 CA391973944	652	I>V		No	ClinGen gnomAD
CA391973897 rs1408616183	653	N>D		No	ClinGen TOPMed gnomAD
rs1566859755 CA391973882	653	N>S		No	ClinGen Ensembl
rs1292662578 CA391973835	654	T>I		No	ClinGen TOPMed gnomAD
rs1292662578 CA391973841	654	T>N		No	ClinGen TOPMed gnomAD
CA7506161 rs761072660	656	S>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	657	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	657	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA269792757 rs773869186 CA7506157	659	M>I		No	ClinGen ExAC TOPMed gnomAD
CA7506159 rs147208206	659	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391972085 rs1390567448	659	M>T		No	ClinGen gnomAD
rs147208206 CA7506158	659	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143745815 CA269792742	661	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs143745815 CA7506155	661	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs770585872 CA7506156	661	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1164230549 CA391971987	662	P>L		No	ClinGen gnomAD
rs769707299 CA7506153	663	G>D		No	ClinGen ExAC TOPMed gnomAD
rs769707299 CA269792730	663	G>V		No	ClinGen ExAC TOPMed gnomAD
rs200338383 CA7506152	664	R>C		No	ClinGen ExAC TOPMed gnomAD
CA7506151 rs780864125	664	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA391971945 rs780864125 COSM50409	664	R>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA7506149 rs137875756	669	I>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs137875756 CA7506148	669	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1272008925 CA391971773	671	S>T		No	ClinGen gnomAD
CA391971704 rs1336901570	673	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA7506144 rs146924938	675	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA269792660 rs146924938	675	S>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs932582451 CA269792656	676	L>V		No	ClinGen Ensembl
rs1308059365 CA391971554	677	S>F		No	ClinGen gnomAD
rs367740611 CA7506143	678	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1397382208 CA391971453	681	E>D		No	ClinGen gnomAD
rs914463525 CA269792643	681	E>G		No	ClinGen TOPMed
CA7506140 rs148217224	681	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391971277 rs1485203567	682	A>S		No	ClinGen TOPMed gnomAD
CA391971256 rs1235278974	684	Q>*		No	ClinGen TOPMed gnomAD
CA7506122 rs781591743	686	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1054149520 CA269792148	687	E>Q		No	ClinGen TOPMed
CA269792143 rs934296874	690	C>*		No	ClinGen TOPMed gnomAD
rs1595589168 CA391971169	690	C>S		No	ClinGen Ensembl
rs564862434 CA391971158	691	R>P		No	ClinGen ExAC TOPMed gnomAD
rs564862434 CA7506118	691	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs766201188 CA7506119	691	R>W		No	ClinGen ExAC TOPMed gnomAD
CA391971154 rs1268302367	692	A>P		No	ClinGen TOPMed
rs368349245 CA7506116	693	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA7506115 rs536421602	693	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA269792111 rs368349245	693	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA7506113 rs374366687	696	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1374763201 CA391971104	697	F>I		No	ClinGen gnomAD
rs1374763201 CA391971103	697	F>L		No	ClinGen gnomAD
rs567537082 CA7506112	698	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1257977796 CA391971080	699	R>G		No	ClinGen gnomAD
TCGA novel	699	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391971075 COSM961654 rs1426196601	699	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1257977796 CA391971078	699	R>W		No	ClinGen gnomAD
rs1444379588 CA391971063	700	V>G		No	ClinGen TOPMed gnomAD
rs1212667683 CA391971067	700	V>L		No	ClinGen TOPMed gnomAD
rs1212667683 CA391971069	700	V>M		No	ClinGen TOPMed gnomAD
CA269792092 rs531139675	701	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7506110 rs531139675	701	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391971035 rs1340121202	702	P>H		No	ClinGen gnomAD
CA391971034 rs1340121202	702	P>L		No	ClinGen gnomAD
CA391971043 rs1441127481	702	P>T		No	ClinGen TOPMed
CA7506109 rs749538293	703	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1246965852 CA391971028	703	S>R		No	ClinGen TOPMed
CA391971023 rs1231988297	704	P>S		No	ClinGen gnomAD
CA391971019 rs1355319451	705	Q>*		No	ClinGen gnomAD
rs777793163 CA7506108	705	Q>R		No	ClinGen ExAC gnomAD
CA7506107 rs769807145	707	Q>H		No	ClinGen ExAC
CA269792076 rs564897115	709	Q>*		No	ClinGen 1000Genomes TOPMed
rs1566859380 CA391970984	709	Q>H		No	ClinGen Ensembl
CA391970988 rs564897115	709	Q>K		No	ClinGen 1000Genomes TOPMed
CA269792072 rs981710628	709	Q>R		No	ClinGen TOPMed
rs1327727844 CA391970973	711	R>K		No	ClinGen gnomAD
rs1401824702 CA391970952	714	H>P		No	ClinGen TOPMed gnomAD
rs1401824702 CA391970951	714	H>R		No	ClinGen TOPMed gnomAD
rs781609096 CA7506104	714	H>Y		No	ClinGen ExAC gnomAD
rs764838499 CA269792068	715	L>V		No	ClinGen TOPMed
CA269792067 rs1032295888	717	S>P		No	ClinGen Ensembl
rs1595589051 CA391970920	718	D>A		No	ClinGen Ensembl
CA7506101 rs528090274	720	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA7506099 rs750129637	723	E>K		No	ClinGen ExAC TOPMed gnomAD
CA391970850 rs750129637	723	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA7506097 rs146853362	725	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs146853362 CA391970807	725	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs371243310 CA7506098	725	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs764001105 CA7506095	727	L>P		No	ClinGen ExAC TOPMed
rs760678834 CA7506094	729	H>R		No	ClinGen ExAC gnomAD
CA269792021 rs117476596	729	H>Y		No	ClinGen 1000Genomes TOPMed gnomAD
rs559460560 CA7506092	731	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs143875418 CA7506093	731	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1595588996 CA391970622	736	S>T		No	ClinGen Ensembl
rs1049356993 CA391970601	737	F>L		No	ClinGen gnomAD
CA269791976 rs1049356993	737	F>V		No	ClinGen gnomAD
rs1395196774 CA391970552	738	K>R		No	ClinGen gnomAD
rs1395196774 CA391970549	738	K>T		No	ClinGen gnomAD
CA391970490 rs1194557293	740	H>L		No	ClinGen TOPMed
rs781336579 CA7506087	740	H>N		No	ClinGen ExAC TOPMed gnomAD
rs1398805839 CA391970455	742	A>T		No	ClinGen TOPMed gnomAD
rs1406963743 CA391970450	742	A>V		No	ClinGen gnomAD
rs1440555713 CA391970418	743	P>L		No	ClinGen gnomAD
rs1203494992 CA391970423	743	P>S		No	ClinGen TOPMed
rs1361214165 CA391970313	744	G>D		No	ClinGen gnomAD
TCGA novel	744	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7506084 rs146646386	744	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7506067 rs747486512	745	V>A		No	ClinGen ExAC gnomAD
rs1317844118 CA391970274	746	Q>*		No	ClinGen TOPMed
COSM3728235 CA7506065 rs528906489	747	R>C	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
VAR_027051 CA7506066 rs528906489	747	R>G		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
COSM1372899 CA391970230 rs1373378653	747	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1373378653 CA391970220	747	R>L		No	ClinGen TOPMed gnomAD
CA7506064 rs528906489	747	R>S		No	ClinGen ExAC TOPMed gnomAD
CA7506063 rs779335531	748	S>N		No	ClinGen ExAC gnomAD
rs149981226 CA7506062	748	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7506060 rs139278620	750	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391969969 rs1419477934	753	Q>H		No	ClinGen gnomAD
rs752619395 CA7506058	755	G>R		No	ClinGen ExAC gnomAD
rs752619395 CA7506059	755	G>S		No	ClinGen ExAC gnomAD
CA391969921 rs1194701730	755	G>V		No	ClinGen TOPMed
CA269791307 rs1056291109	756	Q>*		No	ClinGen Ensembl
CA391969726 rs1210530742	760	T>N		No	ClinGen gnomAD
rs1257347761 CA391969689	761	G>E		No	ClinGen gnomAD
rs766219776 CA7506054	761	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1306408913 CA391969662	762	A>P		No	ClinGen gnomAD
rs776950765 CA7506052	763	T>I		No	ClinGen ExAC gnomAD
CA391969619 rs1278829736	763	T>P		No	ClinGen gnomAD
rs764244132 CA391969578	764	C>F		No	ClinGen ExAC TOPMed gnomAD
rs764244132 CA7506051	764	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA7506050 rs760891913	767	T>N		No	ClinGen ExAC gnomAD
rs776133237 CA7506049	769	S>A		No	ClinGen ExAC gnomAD
CA7506048 rs527618735	771	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746403466 CA7506047	772	T>I		No	ClinGen ExAC gnomAD
CA391969195 rs1319098473	774	K>N		No	ClinGen TOPMed
rs774542401 CA7506046	774	K>Q		No	ClinGen ExAC
rs1354002671 CA391969077	777	D>E		No	ClinGen gnomAD
CA391969114 rs1460591071	777	D>N		No	ClinGen TOPMed gnomAD
CA391969104 rs1460591071	777	D>Y		No	ClinGen TOPMed gnomAD
rs150838987 CA7506044	779	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA7506043 rs777540857	780	R>C		No	ClinGen ExAC gnomAD
CA7506042 rs769291984	780	R>H		No	ClinGen ExAC TOPMed gnomAD
CA7506039 VAR_057678 rs750052	783	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs780695430 CA7506040	783	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1199935841 CA391968861	785	S>C		No	ClinGen gnomAD
CA391968862 rs1199935841	785	S>G		No	ClinGen gnomAD
CA7506035 rs147198080 CA7506036	786	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs764475029 CA7506034	788	N>S		No	ClinGen ExAC TOPMed gnomAD
CA7506030 rs371234748	789	V>E		No	ClinGen ESP ExAC
rs375867370 CA7506031	789	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA391968733 rs1480605599	790	Q>K		No	ClinGen TOPMed
CA7506029 rs767740297	791	T>N		No	ClinGen ExAC gnomAD
rs759933682 CA7506028	792	S>R		No	ClinGen ExAC TOPMed gnomAD
CA7506027 rs377556063	793	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs771189883 CA7506026	794	G>S		No	ClinGen ExAC gnomAD
rs1449025540 CA391968615	795	A>D		No	ClinGen gnomAD
CA7506024 rs773573161	796	I>S		No	ClinGen ExAC gnomAD
TCGA novel	798	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	799	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs983765161 CA269791091	802	T>A		No	ClinGen TOPMed gnomAD
rs1238352118 CA391968355	802	T>I		No	ClinGen gnomAD
rs557149489 CA7506022	803	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7506021 rs780640309	803	A>V		No	ClinGen ExAC TOPMed
rs746895776 CA7506019	804	L>M		No	ClinGen ExAC gnomAD
CA391968230 rs1489392291	806	H>L		No	ClinGen gnomAD
rs780094261 CA7506018	806	H>Q		No	ClinGen ExAC gnomAD
rs1299673157 CA391968242	806	H>Y		No	ClinGen TOPMed
rs750051 CA269791080	807	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_057679 rs750051 CA7506017	807	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1337955621 CA391968211	807	R>W		No	ClinGen TOPMed
CA391967503 rs1310237544	811	A>S		No	ClinGen gnomAD
CA7506016 rs370314190	811	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1322904820 CA391967485	812	R>K		No	ClinGen gnomAD
rs201203477 CA269791062	814	P>L		No	ClinGen 1000Genomes
rs373566512 CA7506015	815	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1393463245 CA391967432	816	A>S		No	ClinGen gnomAD
CA391967424 rs1208965623	816	A>V		No	ClinGen TOPMed
CA7506014 rs756368840	817	Q>*		No	ClinGen ExAC gnomAD
CA7506013 rs753012259	817	Q>H		No	ClinGen ExAC gnomAD
CA391967396 rs1160077793	818	T>I		No	ClinGen gnomAD
rs1452094043 CA391967391	819	T>R		No	ClinGen TOPMed gnomAD
rs1595588282 CA391967384	819	T>S		No	ClinGen Ensembl

No associated diseases with Q86XP0

4 regional properties for Q86XP0

Type	Name	Position	InterPro Accession
domain	C2 domain	5 - 124	IPR000008
domain	Lysophospholipase, catalytic domain	254 - 818	IPR002642
domain	Cytosolic phospholipases A2, C2-domain	163 - 268	IPR040723
domain	Cytosolic phospholipase A2, C2 domain	23 - 141	IPR041847

Functions

		Description
EC Number	3.1.1.4	Carboxylic ester hydrolases
Subcellular Localization	Cytoplasm, cytosol Membrane ; Peripheral membrane protein ; Cytoplasmic side	Translocates to perinuclear membranes that may correspond to endoplasmic reticulum or Golgi in a calcium-dependent fashion
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 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.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

5 GO annotations of molecular function

Name	Definition
calcium ion binding	Binding to a calcium ion (Ca2+).
calcium-dependent phospholipase A2 activity	Catalysis of the reaction: phosphatidylcholine + H2O = 1-acylglycerophosphocholine + a carboxylate. This reaction requires Ca2+.
calcium-dependent phospholipid binding	Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester, in the presence of calcium.
phospholipase A1 activity	Catalysis of the reaction: phosphatidylcholine + H2O = 2-acylglycerophosphocholine + a carboxylate.
phospholipase A2 activity	Catalysis of the reaction: a 1,2-diacyl-sn-glycero-3-phospholipid + H2O = 1-acyl-sn-glycero-3-phospholipid + a fatty acid. This reaction removes the fatty acid attached to the sn2-position. Substrates include phosphatidylcholine, phosphatidylethanolamine, choline plasmalogen and phosphatides.

4 GO annotations of biological process

Name	Definition
fatty acid metabolic process	The chemical reactions and pathways involving fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis.
glycerophospholipid catabolic process	The chemical reactions and pathways resulting in the breakdown of glycerophospholipids, any derivative of glycerophosphate that contains at least one O-acyl, O-alkyl, or O-alkenyl group attached to the glycerol residue.
phosphatidylglycerol acyl-chain remodeling	Remodeling the acyl chains of phosphatidylglycerol, through sequential deacylation and re-acylation reactions, to generate phosphatidylglycerol containing different types of fatty acid acyl chains.
phosphatidylinositol acyl-chain remodeling	Remodeling the acyl chains of phosphatidylinositol, through sequential deacylation and re-acylation reactions, to generate phosphatidylinositol containing different types of fatty acid acyl chains.

46 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P48018	SYT1	Synaptotagmin-1	Bos taurus (Bovine)	PR
P21521	Syt1	Synaptotagmin 1	Drosophila melanogaster (Fruit fly)	PR
Q7L8C5	SYT13	Synaptotagmin-13	Homo sapiens (Human)	PR
Q6XYQ8	SYT10	Synaptotagmin-10	Homo sapiens (Human)	PR
Q9H2B2	SYT4	Synaptotagmin-4	Homo sapiens (Human)	PR
P21579	SYT1	Synaptotagmin-1	Homo sapiens (Human)	PR
Q9HCH5	SYTL2	Synaptotagmin-like protein 2	Homo sapiens (Human)	PR
Q86SS6	SYT9	Synaptotagmin-9	Homo sapiens (Human)	PR
Q9BQG1	SYT3	Synaptotagmin-3	Homo sapiens (Human)	PR
O00445	SYT5	Synaptotagmin-5	Homo sapiens (Human)	PR
Q9BT88	SYT11	Synaptotagmin-11	Homo sapiens (Human)	PR
Q96C24	SYTL4	Synaptotagmin-like protein 4	Homo sapiens (Human)	PR
Q9BQS2	SYT15	Synaptotagmin-15	Homo sapiens (Human)	PR
Q8N9U0	TC2N	Tandem C2 domains nuclear protein	Homo sapiens (Human)	PR
Q8TDW5	SYTL5	Synaptotagmin-like protein 5	Homo sapiens (Human)	PR
Q8IYJ3	SYTL1	Synaptotagmin-like protein 1	Homo sapiens (Human)	PR
O43581	SYT7	Synaptotagmin-7	Homo sapiens (Human)	PR
Q5T7P8	SYT6	Synaptotagmin-6	Homo sapiens (Human)	PR
Q9UP65	PLA2G4C	Cytosolic phospholipase A2 gamma	Homo sapiens (Human)	PR
P40749	Syt4	Synaptotagmin-4	Mus musculus (Mouse)	PR
Q9EQT6	Syt13	Synaptotagmin-13	Mus musculus (Mouse)	PR
Q9R0N4	Syt10	Synaptotagmin-10	Mus musculus (Mouse)	PR
Q99N80	Sytl1	Synaptotagmin-like protein 1	Mus musculus (Mouse)	PR
Q9R0Q1	Sytl4	Synaptotagmin-like protein 4	Mus musculus (Mouse)	PR
Q8C6N3	Syt15	Synaptotagmin-15	Mus musculus (Mouse)	PR
Q920N7	Syt12	Synaptotagmin-12	Mus musculus (Mouse)	PR
Q80T23	Sytl5	Synaptotagmin-like protein 5	Mus musculus (Mouse)	PR
Q9R0N5	Syt5	Synaptotagmin-5	Mus musculus (Mouse)	PR
Q9R0N9	Syt9	Synaptotagmin-9	Mus musculus (Mouse)	PR
Q9R0N8	Syt6	Synaptotagmin-6	Mus musculus (Mouse)	PR
P46096	Syt1	Synaptotagmin-1	Mus musculus (Mouse)	PR
Q9R0N3	Syt11	Synaptotagmin-11	Mus musculus (Mouse)	PR
O35681	Syt3	Synaptotagmin-3	Mus musculus (Mouse)	PR
P46097	Syt2	Synaptotagmin-2	Mus musculus (Mouse)	PR
Q91XT6	Tc2n	Tandem C2 domains nuclear protein	Mus musculus (Mouse)	PR
Q50L43	Pla2g4d	Cytosolic phospholipase A2 delta	Mus musculus (Mouse)	PR
Q812E4	Sytl5	Synaptotagmin-like protein 5	Rattus norvegicus (Rat)	PR
Q925B5	Syt13	Synaptotagmin-13	Rattus norvegicus (Rat)	PR
O08625	Syt10	Synaptotagmin-10	Rattus norvegicus (Rat)	PR
P47861	Syt5	Synaptotagmin-5	Rattus norvegicus (Rat)	PR
Q62746	Syt6	Synaptotagmin-6	Rattus norvegicus (Rat)	PR
P97610	Syt12	Synaptotagmin-12	Rattus norvegicus (Rat)	PR
P40748	Syt3	Synaptotagmin-3	Rattus norvegicus (Rat)	PR
Q925C0	Syt9	Synaptotagmin-9	Rattus norvegicus (Rat)	PR
P59926	Syt15	Synaptotagmin-15	Rattus norvegicus (Rat)	PR
P21707	Syt1	Synaptotagmin-1	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MESLSPGGPP	GHPYQGEAST	CWQLTVRVLE	ARNLRWADLL	SEADPYVILQ	LSTAPGMKFK
70	80	90	100	110	120
TKTLTDTSHP	VWNEAFRFLI	QSQVKNVLEL	SIYDEDSVTE	DDICFKVLYD	ISEVLPGKLL
130	140	150	160	170	180
RKTFSQSPQG	EEELDVEFLM	EETSDRPENL	ITNKVIVARE	LSCLDVHLDS	TGSTAVVADQ
190	200	210	220	230	240
DKLELELVLK	GSYEDTQTSF	LGTASAFRFH	YMAALETELS	GRLRSSRSNG	WNGDNSAGYL
250	260	270	280	290	300
TVPLRPLTIG	KEVTMDVPAP	NAPGVRLQLK	AEGCPEELAV	HLGFNLCAEE	QAFLSRRKQV
310	320	330	340	350	360
VAKALKQALQ	LDRDLQEDEV	PVVGIMATGG	GARAMTSLYG	HLLALQKLGL	LDCVTYFSGI
370	380	390	400	410	420
SGSTWTMAHL	YGDPEWSQRD	LEGPIRYARE	HLAKSKLEVF	SPERLASYRR	ELELRAEQGH
430	440	450	460	470	480
PTTFVDLWAL	VLESMLHGQV	MDQKLSGQRA	ALERGQNPLP	LYLSLNVKEN	NLETLDFKEW
490	500	510	520	530	540
VEFSPYEVGF	LKYGAFVPPE	LFGSEFFMGR	LMRRIPEPRI	CFLEAIWSNI	FSLNLLDAWY
550	560	570	580	590	600
DLTSSGESWK	QHIKDKTRSL	EKEPLTTSGT	SSRLEASWLQ	PGTALAQAFK	GFLTGRPLHQ
610	620	630	640	650	660
RSPNFLQGLQ	LHQDYCSHKD	FSTWADYQLD	SMPSQLTPKE	PRLCLVDAAY	FINTSSPSMF
670	680	690	700	710	720
RPGRRLDLIL	SFDYSLSAPF	EALQQTELYC	RARGLPFPRV	EPSPQDQHQP	RECHLFSDPA
730	740	750	760	770	780
CPEAPILLHF	PLVNASFKDH	SAPGVQRSPA	ELQGGQVDLT	GATCPYTLSN	MTYKEEDFER
790	800	810
LLRLSDYNVQ	TSQGAILQAL	RTALKHRTLE	ARPPRAQT