AiPD: Autoinhibited Protein Database

Q9BQS2

Gene name	SYT15
Protein name	Synaptotagmin-15
Names	Chr10Syt, Synaptotagmin XV, SytXV
Species	Homo sapiens (Human)
KEGG Pathway	hsa:83849
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

16-310 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

16-310 (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

1 structures for Q9BQS2

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9BQS2-F1	Predicted				AlphaFoldDB

567 variants for Q9BQS2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1360892101 CA376638066	2	A>G		No	ClinGen TOPMed
rs1267859359 CA376638071	3	E>K		No	ClinGen TOPMed
rs1555035794 CA376638844	4	Q>K		No	ClinGen gnomAD
TCGA novel	6	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5484281 rs782624244	7	L>V		No	ClinGen ExAC gnomAD
rs200557253 CA376638885	8	V>L		No	ClinGen ExAC TOPMed gnomAD
rs200557253 CA5484280	8	V>M		No	ClinGen ExAC TOPMed gnomAD
CA5484279 rs374015418	9	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1555035816 CA376638896	9	I>V		No	ClinGen gnomAD
rs782104243 CA5484277	10	G>E		No	ClinGen ExAC TOPMed gnomAD
CA206413252 rs782713987	10	G>R		No	ClinGen ExAC gnomAD
rs782713987 CA5484278	10	G>W		No	ClinGen ExAC gnomAD
CA376638916 rs1274691968	11	G>C		No	ClinGen TOPMed gnomAD
rs1555035836 CA376638917	11	G>D		No	ClinGen gnomAD
CA376638913 rs1274691968	11	G>S		No	ClinGen TOPMed gnomAD
CA376638929 rs1214574207	12	T>I		No	ClinGen TOPMed gnomAD
CA5484275 rs547196115	12	T>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1267951546 CA376638953	14	G>A		No	ClinGen TOPMed gnomAD
CA376638951 rs1267951546	14	G>E		No	ClinGen TOPMed gnomAD
rs782040854 CA5484273	14	G>R		No	ClinGen ExAC gnomAD
rs1267951546 CA376638955	14	G>V		No	ClinGen TOPMed gnomAD
rs781925704 CA5484270	15	G>E		No	ClinGen ExAC TOPMed gnomAD
CA5484271 rs369638478	15	G>R		No	ClinGen ESP ExAC gnomAD
rs781925704 CA206413285	15	G>V		No	ClinGen ExAC TOPMed gnomAD
CA206413280 rs369638478	15	G>W		No	ClinGen ESP ExAC gnomAD
rs782355773 CA5484269	17	L>P		No	ClinGen ExAC gnomAD
rs1452389894 CA376639009	20	L>P		No	ClinGen TOPMed
rs377198591 CA5484263	22	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA5484264 rs782634340	22	I>V		No	ClinGen ExAC gnomAD
rs1555035910 CA376639038	23	G>A		No	ClinGen gnomAD
CA5484261 rs529094262	23	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1555035917 CA376639041	24	A>E		No	ClinGen gnomAD
CA5484260 rs782450342	24	A>T		No	ClinGen ExAC gnomAD
CA376639048 rs1555035922	25	S>G		No	ClinGen gnomAD
rs1555035928 CA376639059	26	C>S		No	ClinGen gnomAD
rs1555035940 CA376639097	28	L>R		No	ClinGen Ensembl
rs782520429 CA5484258	29	W>*		No	ClinGen ExAC gnomAD
rs782520429 CA5484257	29	W>C		No	ClinGen ExAC gnomAD
rs1588997022 CA376639101	29	W>R		No	ClinGen Ensembl
CA5484255 rs781856632	31	R>G		No	ClinGen ExAC gnomAD
CA376639129 rs1555035954	31	R>K		No	ClinGen gnomAD
rs201755794 CA5484254	31	R>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1555035961 CA376639181	35	T>N		No	ClinGen gnomAD
CA5484252 rs781810770	37	T>S		No	ClinGen ExAC gnomAD
rs782705188 CA5484251	38	Y>C		No	ClinGen ExAC gnomAD
rs781950170 CA5484249	39	E>K		No	ClinGen ExAC gnomAD
CA5484248 rs782383151	40	E>K		No	ClinGen ExAC gnomAD
rs1555035982 CA376639247	41	L>V		No	ClinGen gnomAD
CA5484245 rs782031107	42	P>L		No	ClinGen ExAC gnomAD
CA5484246 rs782103662	42	P>S		No	ClinGen ExAC gnomAD
rs782566788 CA5484242	43	G>E		No	ClinGen ExAC gnomAD
COSM918357 rs782347069 CA5484241	44	T>I	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA376639286 rs1555036006	45	P>Q		No	ClinGen gnomAD
rs1555036002 CA376639280	45	P>T		No	ClinGen gnomAD
rs1555036011 CA376639297	46	A>G		No	ClinGen gnomAD
CA5484238 rs543139960	47	M>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5484239 rs543139960	47	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1555036028 CA376639346	50	T>A		No	ClinGen gnomAD
CA5484237 rs55894256	50	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5484235 rs563942275	51	A>V		No	ClinGen 1000Genomes gnomAD
CA5484234 rs201193245	52	A>S		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs201199533 CA206413450	53	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201199533 CA5484232	53	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1555036056 CA376639396	54	S>G		No	ClinGen gnomAD
rs781847560 CA5484229	55	G>A		No	ClinGen ExAC TOPMed gnomAD
rs781847560 CA5484230	55	G>E		No	ClinGen ExAC TOPMed gnomAD
rs782143345 CA5484227	56	Q>*		No	ClinGen ExAC gnomAD
rs781932952 CA5484226	56	Q>H		No	ClinGen ExAC gnomAD
CA376639427 rs1459816112	56	Q>R		No	ClinGen TOPMed gnomAD
CA5484223 COSM1297268 rs782005603	57	R>P	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA5484224 rs782005603	57	R>Q		No	ClinGen ExAC gnomAD
CA5484225 rs782702981	57	R>W		No	ClinGen ExAC TOPMed gnomAD
CA5484222 rs759756220	58	D>N		No	ClinGen ExAC gnomAD
CA5484221 rs782296164	60	P>L		No	ClinGen ExAC TOPMed gnomAD
CA376639639 rs1555036073	60	P>T		No	ClinGen gnomAD
CA376639678 rs1436907878	62	Q>E		No	ClinGen TOPMed
CA5484219 rs782330059	63	P>L		No	ClinGen ExAC TOPMed gnomAD
CA376639734 rs1362146954	65	A>G		No	ClinGen TOPMed gnomAD
rs1362146954 CA376639736	65	A>V		No	ClinGen TOPMed gnomAD
CA5484216 rs782475464	66	R>T		No	ClinGen ExAC gnomAD
CA5484215 rs782259718	69	L>V		No	ClinGen ExAC gnomAD
CA5484213 rs556775383	70	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5484212 rs781886202	71	R>K		No	ClinGen ExAC gnomAD
CA5484181 rs781829946	72	P>A		No	ClinGen ExAC TOPMed gnomAD
CA376640016 rs1555036553	74	A>T		No	ClinGen gnomAD
rs1195216826 CA376640035	75	V>E		No	ClinGen TOPMed
rs767318541 CA376640032	75	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5484180 rs767318541	75	V>M		No	ClinGen ExAC TOPMed gnomAD
CA5484179 rs782107315	76	P>S		No	ClinGen ExAC TOPMed gnomAD
CA376640054 rs1555036563	77	F>Y		No	ClinGen gnomAD
CA206413822 CA206413820 rs376965392	78	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5484177 rs376965392	78	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA376640071 rs1555036582	79	V>M		No	ClinGen gnomAD
CA5484176 rs535376052	80	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA376640100 rs1342243966	81	P>S		No	ClinGen TOPMed gnomAD
CA376640124 rs782361276	82	T>I		No	ClinGen ExAC TOPMed gnomAD
CA5484173 rs782361276	82	T>S		No	ClinGen ExAC TOPMed gnomAD
rs782215239 CA5484172	83	L>F		No	ClinGen ExAC gnomAD
rs782416598 CA5484170	84	Q>*		No	ClinGen ExAC gnomAD
CA376640172 rs1588999570	85	G>S		No	ClinGen Ensembl
CA5484168 rs549714653	86	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5484167 rs782578619	86	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1408846016 CA376640197	87	D>H		No	ClinGen TOPMed gnomAD
rs782442592 CA5484166	87	D>V		No	ClinGen ExAC gnomAD
CA5484163 rs782609924	88	W>*		No	ClinGen ExAC gnomAD
rs538005288 CA376640235	89	V>A		No	ClinGen 1000Genomes
CA5484161 rs552299441	90	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs552299441 CA5484160	90	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5484162 COSM1560781 rs199526536	90	P>S	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs782517771	91	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782697164 CA5484156	92	H>D		No	ClinGen ExAC gnomAD
rs782096908 CA5484155	92	H>P		No	ClinGen ExAC gnomAD
CA5484153 rs200990211	95	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781954337 CA5484154	95	E>K		No	ClinGen ExAC TOPMed gnomAD
rs781954337 CA206413913	95	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA376640315 rs1555036677	96	W>*		No	ClinGen gnomAD
rs1186362171 CA376640321	96	W>*		No	ClinGen TOPMed gnomAD
CA376640326 rs1186362171	96	W>C		No	ClinGen TOPMed gnomAD
CA376640329 rs1555036687	97	A>T		No	ClinGen gnomAD
rs1555036694 COSM1267291 CA376640336	97	A>V	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
CA5484149 rs782180777	98	D>E		No	ClinGen ExAC gnomAD
rs530419005 COSM189533 CA5484150	98	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
COSM918348 rs1565236183 CA376640351	99	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
COSM1722765 rs781974648 CA5484148	100	P>L	NS [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA376640364 rs1555036707	100	P>S		No	ClinGen gnomAD
CA5484147 rs563155047	101	W>G		No	ClinGen 1000Genomes ExAC gnomAD
rs563155047 CA5484146	101	W>R		No	ClinGen 1000Genomes ExAC gnomAD
CA5484145 rs782628909	101	W>S		No	ClinGen ExAC gnomAD
CA5484141 COSM1560784 CA5484143 rs201674590	102	D>E	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs782545006 CA5484144	102	D>N		No	ClinGen ExAC gnomAD
rs1555036722 CA376640375	103	P>T		No	ClinGen gnomAD
rs781832726 CA5484140	104	C>R		No	ClinGen ExAC gnomAD
CA5484139 rs577411839	105	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782817970 CA376640388	105	P>S		No	ClinGen TOPMed gnomAD
rs565314729 CA376640389	106	A>T		No	ClinGen 1000Genomes gnomAD
rs1343416361 CA376640404	107	S>L		No	ClinGen TOPMed gnomAD
rs1297505710 CA376640410	108	E>G		No	ClinGen TOPMed
rs782795236 CA5484136	110	L>M		No	ClinGen ExAC gnomAD
rs781921135 CA5484134	112	H>Y		No	ClinGen ExAC gnomAD
CA376640443 rs1555036770	113	T>I		No	ClinGen gnomAD
rs782086864 CA5484132	114	S>C		No	ClinGen ExAC TOPMed gnomAD
CA5484131 rs369262241	115	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs572965510 CA206414022 COSM1603463	115	S>R	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA206414030 rs554566435	116	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA206414027 rs554566435	116	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5484129 rs554566435	116	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5484127 COSM259020 rs373437721	117	G>S	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs782623704 CA5484125	118	L>I		No	ClinGen ExAC gnomAD
rs1385600139 CA376640461	118	L>R		No	ClinGen TOPMed gnomAD
rs782258788 CA5484123	119	G>*		No	ClinGen ExAC TOPMed gnomAD
rs782258788 CA5484124	119	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1555037266 CA376640526	121	A>T		No	ClinGen gnomAD
CA5484095 rs781799933	121	A>V		No	ClinGen ExAC gnomAD
rs1555037281 CA376640535	122	C>R		No	ClinGen gnomAD
rs1555037281 CA376640533	122	C>S		No	ClinGen gnomAD
COSM189532 CA5484094 rs782695479	122	C>Y	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA376640587 CA376640591 rs1555037286	123	M>I		No	ClinGen gnomAD
rs781823140 CA5484092	123	M>L		No	ClinGen ExAC TOPMed gnomAD
CA5484093 rs781823140	123	M>V		No	ClinGen ExAC TOPMed gnomAD
rs782109470 CA5484090	124	V>A		No	ClinGen ExAC TOPMed gnomAD
rs782789816 CA5484091	124	V>M		No	ClinGen ExAC TOPMed gnomAD
CA5484087 rs781975518	126	A>P		No	ClinGen ExAC TOPMed gnomAD
rs781975518 CA5484086	126	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1555037301 CA376640652	126	A>V		No	ClinGen gnomAD
CA5484085 rs782349711	127	I>V		No	ClinGen ExAC gnomAD
rs1292174106 CA376640739	129	P>L		No	ClinGen TOPMed
rs782632381 CA5484083	129	P>T		No	ClinGen ExAC gnomAD
rs782267249 CA206414401	130	E>D		No	ClinGen ExAC gnomAD
CA376640789 rs1555037318	131	L>P		No	ClinGen gnomAD
CA5484079 rs782426915	132	Y>C		No	ClinGen ExAC gnomAD
CA376640821 rs1555037323	133	K>E		No	ClinGen gnomAD
rs1458971666 CA376640877	135	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs782599722 COSM1297265 CA5484077	136	E>K	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1589002303 CA376640887	136	E>V		No	ClinGen Ensembl
CA376640905 rs1555037338	137	D>E		No	ClinGen gnomAD
rs782518255 CA5484076	137	D>N		No	ClinGen ExAC gnomAD
rs781858161 CA5484075	138	K>R		No	ClinGen ExAC gnomAD
CA5484074 rs536327857	139	S>I		No	ClinGen 1000Genomes ExAC gnomAD
CA5484073 rs782465957	140	E>D		No	ClinGen ExAC gnomAD
rs781791896 CA5484072	141	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1158432264 CA376640976	141	T>I		No	ClinGen TOPMed gnomAD
rs782088585 CA5484070	142	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5484069 rs782009168	143	F>C		No	ClinGen ExAC gnomAD
CA376641006 rs1199451427	143	F>L		No	ClinGen TOPMed
rs1555037365 CA376641009	144	P>S		No	ClinGen gnomAD
rs782314025 CA5484065	145	D>E		No	ClinGen ExAC TOPMed gnomAD
rs782174710 CA5484067 COSM1228321	145	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs201532217 CA206414472	146	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5484062 rs782337685	146	G>D		No	ClinGen ExAC gnomAD
CA5484063 rs201532217	146	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5484064 rs201532217	146	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782260321 CA5484061	147	C>R		No	ClinGen ExAC gnomAD
CA5484060 rs782633065	148	L>P		No	ClinGen ExAC gnomAD
CA5484057 rs782580083	149	G>R		No	ClinGen ExAC gnomAD
rs769363312 CA376641078	150	R>L		No	ClinGen ExAC TOPMed gnomAD
rs769363312 CA5484054	150	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM268350 rs371278933 CA5484055	150	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs781911210 CA5484051	152	W>*		No	ClinGen ExAC gnomAD
CA376641090 rs1555037399	152	W>L		No	ClinGen gnomAD
CA376641112 rs1555037406	153	F>I		No	ClinGen gnomAD
CA376641121 rs1589002542	153	F>S		No	ClinGen Ensembl
CA376641119 rs1555037406	153	F>V		No	ClinGen gnomAD
rs74128855 CA5484049	154	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs74128855 CA5484050	154	S>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA376641140 rs1404394264	155	V>M		No	ClinGen TOPMed gnomAD
CA206414531 rs201388422	156	E>G		No	ClinGen ExAC gnomAD
CA5484045 rs201388422	156	E>V		No	ClinGen ExAC gnomAD
rs782371715 CA376641176	157	Y>C		No	ClinGen ExAC gnomAD
rs782371715 CA5484044	157	Y>F		No	ClinGen ExAC gnomAD
CA5484043 rs782294903	158	E>K		No	ClinGen ExAC
rs1555037422 CA376641200	159	Q>R		No	ClinGen gnomAD
rs782016282 CA5484042	160	E>K		No	ClinGen ExAC gnomAD
rs1477624849 CA376641211	161	A>T		No	ClinGen TOPMed
CA376641214 rs1375866126	161	A>V		No	ClinGen TOPMed
rs782596028 CA206414572	163	R>L		No	ClinGen ExAC gnomAD
rs782596028 CA5484039	163	R>Q		No	ClinGen ExAC gnomAD
rs374787280 CA5484040	163	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA376641241 rs1247243802	165	L>V		No	ClinGen TOPMed gnomAD
CA5484035 rs782545178	167	G>A		No	ClinGen ExAC gnomAD
CA376641263 rs1555037435	167	G>C		No	ClinGen gnomAD
rs782545178 CA5484036	167	G>D		No	ClinGen ExAC gnomAD
CA376641258 rs1555037435	167	G>S		No	ClinGen gnomAD
rs782391607 CA376641843	171	A>T		No	ClinGen gnomAD
rs781816666 CA5484033	172	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA376641851 rs1555037454	172	Q>H		No	ClinGen gnomAD
CA376641849 rs1555037453	172	Q>R		No	ClinGen gnomAD
CA5484032 rs782563080	173	H>Q		No	ClinGen ExAC gnomAD
rs1555037456 CA376641860	173	H>Y		No	ClinGen gnomAD
CA5484030 rs781815564	174	L>M		No	ClinGen ExAC gnomAD
rs781815564 CA5484031	174	L>V		No	ClinGen ExAC gnomAD
CA5484029 rs782766130	175	Q>*		No	ClinGen ExAC gnomAD
CA376641888 rs1555037476	175	Q>R		No	ClinGen gnomAD
CA376641907 rs1589002795	176	A>D		No	ClinGen Ensembl
rs782109278 CA5484028	177	P>S		No	ClinGen ExAC gnomAD
rs202105571 COSM918342 CA5484026	178	S>L	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA376641949 rs1231328957	179	E>A		No	ClinGen TOPMed
CA5484024 rs542743759	180	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5484022 rs782130104	181	C>*		No	ClinGen ExAC TOPMed gnomAD
CA376641991 rs1589002874	182	S>G		No	ClinGen Ensembl
rs781990331 CA376641996	182	S>N		No	ClinGen ExAC gnomAD
CA5484021 rs781990331	182	S>T		No	ClinGen ExAC gnomAD
CA376642007 rs1555037511	183	P>S		No	ClinGen gnomAD
TCGA novel	184	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782592361 CA5484018	184	L>V		No	ClinGen ExAC gnomAD
CA376642024 rs1555037528	185	V>A		No	ClinGen gnomAD
rs782225538 CA5484016	185	V>M		No	ClinGen ExAC gnomAD
rs745548198 CA206414679	186	K>N		No	ClinGen gnomAD
rs1555037532 CA376642037	186	K>R		No	ClinGen gnomAD
CA5484014 rs782534308	187	L>F		No	ClinGen ExAC
CA206414683 rs782534308	187	L>I		No	ClinGen ExAC
rs782692707 CA5484012	188	Y>C		No	ClinGen ExAC gnomAD
CA5484010 rs781807951	190	L>M		No	ClinGen ExAC gnomAD
rs1555037548 CA376642103	191	P>S		No	ClinGen gnomAD
rs782157420 CA5484005	192	D>N		No	ClinGen ExAC TOPMed gnomAD
rs781979888 CA5484001	194	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5484002 COSM1242902 rs782039332	194	R>W	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5484000 COSM1267300 rs368809599	195	R>C	oesophagus large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs201664076 CA5483999	195	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1555037569 CA5483997	196	F>L		No	ClinGen Ensembl
CA5483995 rs782418960	198	Q>P		No	ClinGen ExAC gnomAD
TCGA novel	199	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376642195 rs1358988836	199	S>F		No	ClinGen TOPMed
rs540527519 CA5483993	199	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1555037579 CA376642223	201	T>I		No	ClinGen gnomAD
CA5483990 rs201185868	203	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA206414790 rs201185868	203	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA5483989 COSM1347896 rs781903310	203	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA5483988 rs781903310	203	R>P		No	ClinGen ExAC gnomAD
rs1166406591 CA376642259	204	K>R		No	ClinGen TOPMed
CA376642288 rs1555037603	206	S>F		No	ClinGen gnomAD
rs781783974 CA5483985	208	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1555037611 CA376642316	209	Q>*		No	ClinGen gnomAD
rs1555037615 CA376642320	209	Q>R		No	ClinGen gnomAD
TCGA novel	209	Q>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs377350440 CA5483981	211	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs782090844 CA5483983	211	D>H		No	ClinGen ExAC gnomAD
rs782090844 CA376642344	211	D>N		No	ClinGen ExAC gnomAD
CA5483979 rs782326872	212	E>*		No	ClinGen ExAC TOPMed gnomAD
CA5483977 rs573100590	212	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM918336 rs782326872 CA5483978	212	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5483980 rs782326872	212	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1555037648 CA376642379	213	H>Q		No	ClinGen gnomAD
rs1555037644 CA376642370	213	H>Y		No	ClinGen gnomAD
CA5483975 rs782383544	214	F>L		No	ClinGen ExAC gnomAD
CA5483974 rs554788539	215	I>F		No	ClinGen 1000Genomes ExAC gnomAD
CA376642417 rs1555037659	216	F>L		No	ClinGen gnomAD
rs782681261 CA5483973	217	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA5483924 rs781903429	218	V>M		No	ClinGen ExAC TOPMed gnomAD
rs200847283 CA5483922	219	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA376643194 rs1372546897	220	S>G		No	ClinGen TOPMed gnomAD
CA376643205 rs1555038746	220	S>N		No	ClinGen gnomAD
rs781785266 CA5483921	220	S>R		No	ClinGen ExAC gnomAD
CA5483920 rs782742980	221	K>Q		No	ClinGen ExAC gnomAD
CA5483919 rs199862416	221	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1438345169 CA376643241	222	T>I		No	ClinGen TOPMed
CA5483916 rs782164853	223	I>N		No	ClinGen ExAC gnomAD
rs782771969 CA5483917	223	I>V		No	ClinGen ExAC gnomAD
rs1555038784 CA376643275	224	T>I		No	ClinGen gnomAD
CA5483914 rs202146218	225	Q>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5483913 rs202146218	225	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA376643307 rs1555038796	226	R>T		No	ClinGen gnomAD
CA5483911 rs201126022	227	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782247862 CA5483910	228	L>P		No	ClinGen ExAC gnomAD
rs1555038809 CA376643342	229	K>R		No	ClinGen gnomAD
rs782413810 CA5483909	231	S>C		No	ClinGen ExAC gnomAD
CA5483908 COSM1267287 rs782413810	231	S>F	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA5483905 rs782475154	232	V>A		No	ClinGen ExAC gnomAD
CA5483906 rs201102390	232	V>I		No	ClinGen ExAC gnomAD
CA376643420 rs1555038826	234	H>R		No	ClinGen gnomAD
CA5483901 rs199866915	235	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199741492 CA5483902	235	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA376643443 rs1555038840	236	D>G		No	ClinGen gnomAD
rs1479194228 CA376643439	236	D>Y		No	ClinGen TOPMed
CA5483899 rs782471152	237	R>G		No	ClinGen ExAC gnomAD
CA376643477 rs1555038848	239	R>G		No	ClinGen gnomAD
CA5483898 rs781793533	239	R>M		No	ClinGen ExAC gnomAD
rs1555038862 CA376643494	240	K>R		No	ClinGen gnomAD
CA376643509 rs1254061169	241	H>R		No	ClinGen TOPMed
rs782764959 CA5483897	242	Q>*		No	ClinGen ExAC gnomAD
rs1555038878 CA376643527	243	L>F		No	ClinGen gnomAD
CA5483896 rs782080089	244	L>R		No	ClinGen ExAC gnomAD
TCGA novel	245	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201595440 CA5483894	245	G>D		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA5483895 rs782005424	245	G>S		No	ClinGen ExAC gnomAD
rs782149075 CA5483892	247	V>A		No	ClinGen ExAC TOPMed gnomAD
CA376643563 rs1565240891	247	V>M		No	ClinGen Ensembl
rs781933686 CA5483891	248	L>F		No	ClinGen ExAC TOPMed gnomAD
CA376643579 rs1216599774	249	F>I		No	ClinGen TOPMed
CA5483890 rs782304696	249	F>L		No	ClinGen ExAC gnomAD
rs782221049 CA5483889	250	P>S		No	ClinGen ExAC gnomAD
rs1555038910 CA376643620	253	N>H		No	ClinGen gnomAD
CA5483885 rs782691918	254	E>D		No	ClinGen ExAC gnomAD
CA5483886 rs782241156	254	E>G		No	ClinGen ExAC TOPMed gnomAD
CA5483887 rs200989650	254	E>K		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs782540961 CA5483884	255	T>N		No	ClinGen ExAC gnomAD
rs554393436 CA5483883	257	V>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1555038928 CA376643659	257	V>M		No	ClinGen gnomAD
CA5483877 rs782562335	259	D>E		No	ClinGen ExAC gnomAD
CA5483880 rs781823839	259	D>N		No	ClinGen ExAC gnomAD
CA5483879 rs782772264	259	D>V		No	ClinGen ExAC
TCGA novel	260	C>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA206415550 rs781888056	260	C>F		No	ClinGen ExAC gnomAD
rs781888056 CA5483876	260	C>Y		No	ClinGen ExAC gnomAD
rs200211646 CA5483873	261	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs201248430 CA206415567	261	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201248430 CA5483872	261	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200211646 CA5483874	261	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA5483871 COSM1958110 rs782119902	262	R>C	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs538202309 CA5483869	262	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs538202309 CA5483870	262	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1555038973 CA376643702	263	V>I		No	ClinGen gnomAD
CA5483868 rs202004356	264	I>V		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA376643723 rs782233411	265	W>*		No	ClinGen ExAC TOPMed gnomAD
rs782316799 CA5483866	265	W>*		No	ClinGen ExAC TOPMed gnomAD
CA5483865 rs782233411	265	W>C		No	ClinGen ExAC TOPMed gnomAD
CA5483867 rs781939732	265	W>R		No	ClinGen ExAC gnomAD
CA376643738 rs1264120606	267	D>E		No	ClinGen TOPMed gnomAD
rs1452742901 CA376643735	267	D>G		No	ClinGen TOPMed
CA376643743 rs782395467	269	E>K		No	ClinGen ExAC gnomAD
CA5483863 rs782395467	269	E>Q		No	ClinGen ExAC gnomAD
CA5483862 rs782242499	270	A>S		No	ClinGen ExAC gnomAD
CA5483861 rs551288998	270	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA206415615 rs781788512	271	E>*		No	ClinGen ExAC TOPMed gnomAD
rs374669318 CA5483858	271	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA5483859 rs781788512	271	E>K		No	ClinGen ExAC TOPMed gnomAD
CA5483856 rs781867626	272	S>I		No	ClinGen ExAC TOPMed gnomAD
CA206415625 rs781867626	272	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5483857 rs782468193	272	S>R		No	ClinGen ExAC gnomAD
CA206415627 rs781867626	272	S>T		No	ClinGen ExAC TOPMed gnomAD
rs539329847 CA5483855	273	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA376643762 rs1555039021	274	E>K		No	ClinGen gnomAD
rs577237160 CA5483820	275	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1412259058 CA376644304	275	P>R		No	ClinGen TOPMed
CA5483818 rs577237160	275	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5483819 rs577237160	275	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5483817 rs199531397	276	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA206416943 rs782508150	276	P>H		No	ClinGen ExAC TOPMed gnomAD
CA5483816 rs782508150	276	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782508150 CA206416944	276	P>R		No	ClinGen ExAC TOPMed gnomAD
CA376644312 rs199531397	276	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1958095 rs201596672 CA5483813	277	S>L	ovary [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs782382721	277	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782721108 CA5483809	281	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1555039493 CA376644474	284	F>V		No	ClinGen gnomAD
CA376644540 rs1555039497	287	S>G		No	ClinGen gnomAD
rs369697339 CA376644581	288	Y>C		No	ClinGen ESP TOPMed
rs782808299 CA5483806	289	N>D		No	ClinGen ExAC TOPMed gnomAD
rs1555039505 CA376644590	289	N>I		No	ClinGen gnomAD
rs372494739 CA5483804	290	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA5483802 rs782232243	292	L>P		No	ClinGen ExAC gnomAD
CA206416998 rs782232243	292	L>R		No	ClinGen ExAC gnomAD
CA206416994 rs782317720	292	L>V		No	ClinGen ExAC gnomAD
CA5483800 rs782385692	294	R>C		No	ClinGen ExAC TOPMed gnomAD
rs782385692 CA5483801	294	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5483799 rs369087646	294	R>H		No	ClinGen ESP ExAC gnomAD
rs369087646 CA206417005	294	R>L		No	ClinGen ESP ExAC gnomAD
rs369087646 CA206417003	294	R>P		No	ClinGen ESP ExAC gnomAD
CA5483797 rs782538771	295	L>M		No	ClinGen ExAC gnomAD
CA376644678 rs1555039531	295	L>Q		No	ClinGen gnomAD
CA206417019 rs376045908	296	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA5483796 rs376045908	296	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1555039543 CA376644711	297	V>A		No	ClinGen gnomAD
CA5483792 rs782771075	298	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1157231932 CA376644759	299	V>A		No	ClinGen TOPMed gnomAD
rs1395902642 CA376644770	300	L>P		No	ClinGen TOPMed
COSM1289363 CA5483791 rs188079321	301	R>C	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA5483790 rs188079321	301	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM918332 rs200170650 CA5483789	301	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA376644813 rs1446371783	303	K>T		No	ClinGen TOPMed
rs782729447 CA5483785	304	G>D		No	ClinGen ExAC TOPMed gnomAD
CA5483784 rs782135145	305	L>F		No	ClinGen ExAC TOPMed gnomAD
CA5483782 rs372389191	306	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5483783 rs376979784	306	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368516751 CA206417080	307	L>H		No	ClinGen ESP TOPMed
CA5483781 rs782146392	308	Q>R		No	ClinGen ExAC gnomAD
rs3127785 CA5483777 CA5483778	309	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5483780 rs537968577	309	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA5483774 rs782363884	310	D>G		No	ClinGen ExAC gnomAD
rs200586361 CA5483775	310	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA376644938 rs1360440124	311	R>G		No	ClinGen TOPMed gnomAD
rs782652390 CA5483772	312	G>A		No	ClinGen ExAC TOPMed gnomAD
rs782282441 CA5483773	312	G>S		No	ClinGen ExAC TOPMed gnomAD
CA5483770 rs781799305	313	I>L		No	ClinGen ExAC gnomAD
rs781799305 CA5483771	313	I>V		No	ClinGen ExAC gnomAD
CA5483769 rs782621111	315	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1436307689 CA376645248	315	S>N		No	ClinGen TOPMed gnomAD
rs1555040193 CA376645255	316	V>L		No	ClinGen gnomAD
CA206417446 rs782805335	317	F>I		No	ClinGen ExAC gnomAD
rs782805335 CA5483743	317	F>L		No	ClinGen ExAC gnomAD
CA5483742 rs782143589	317	F>S		No	ClinGen ExAC TOPMed gnomAD
rs781936165 CA5483741	318	V>G		No	ClinGen ExAC
rs1555040211 CA376645290	319	K>N		No	ClinGen gnomAD
CA5483740 rs782685761	320	V>L		No	ClinGen ExAC
CA376645304 rs1555040215	321	S>T		No	ClinGen gnomAD
rs1555040218 CA376645322	322	L>V		No	ClinGen gnomAD
CA5483737 rs781956054	323	M>L		No	ClinGen ExAC gnomAD
rs199626026 CA5483735	326	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs551018288 CA5483736	326	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA376645434 rs1555040243	327	K>E		No	ClinGen gnomAD
CA5483732 rs782037540	328	F>S		No	ClinGen ExAC gnomAD
CA376645496 rs1555040260	330	K>T		No	ClinGen gnomAD
rs1555040266 CA376645518	332	K>Q		No	ClinGen gnomAD
CA376645590 rs1555040273	335	S>L		No	ClinGen gnomAD
rs1589013330 CA376645603	336	A>G		No	ClinGen Ensembl
rs376403508 CA5483730	336	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1555040295 CA376645613	337	V>G		No	ClinGen gnomAD
CA5483728 rs1555040292	337	V>L		No	ClinGen Ensembl
CA376645608 rs1555040292	337	V>M		No	ClinGen Ensembl
CA5483725 rs55945664	338	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5483723 rs782551200	339	G>D		No	ClinGen ExAC gnomAD
CA5483722 rs781884802	341	I>V		No	ClinGen ExAC TOPMed gnomAD
rs782710475 CA5483721	342	N>S		No	ClinGen ExAC gnomAD
CA376645694 rs1425879308	343	P>A		No	ClinGen TOPMed
CA376645699 rs1555040334	343	P>L		No	ClinGen gnomAD
rs546761992 CA5483719	344	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs782748783 CA5483718	345	Y>*		No	ClinGen ExAC gnomAD
rs1555040351 CA376645721	345	Y>C		No	ClinGen gnomAD
rs1555040355 CA376645741	346	N>S		No	ClinGen gnomAD
rs782132236 CA5483717	348	T>I		No	ClinGen ExAC gnomAD
CA5483716 rs781992421	349	F>V		No	ClinGen ExAC gnomAD
CA376645805 rs1555040358	350	S>R		No	ClinGen gnomAD
rs782150750 CA5483714	351	F>S		No	ClinGen ExAC gnomAD
CA376645860 rs1555040362	353	A>D		No	ClinGen gnomAD
CA5483712 rs528568441	354	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5483711 rs528568441	354	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA376645912 rs561185802	356	T>A		No	ClinGen 1000Genomes
rs2484844 CA5483708 COSM1297259	357	E>K	Variant assessed as Somatic; 9.286e-05 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA5483707 rs782660414	358	L>P		No	ClinGen ExAC gnomAD
rs1555040378 CA376645967	359	D>V		No	ClinGen gnomAD
rs376057533 CA5483704	361	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs376057533 CA5483703	361	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1555040388 CA376646024	363	L>F		No	ClinGen gnomAD
CA376646023 rs1555040388	363	L>V		No	ClinGen gnomAD
rs781877120 CA206417588	364	S>C		No	ClinGen ExAC gnomAD
CA376646037 rs868991542	364	S>N		No	ClinGen Ensembl
rs781877120 CA5483702	364	S>R		No	ClinGen ExAC gnomAD
CA5483700 rs782570195	365	L>R		No	ClinGen ExAC TOPMed gnomAD
rs1555040397 CA376646048	365	L>V		No	ClinGen gnomAD
CA376646073 rs2484842	367	V>A		No	ClinGen Ensembl
CA5483699 rs782715932	368	V>L		No	ClinGen ExAC gnomAD
CA5483698 rs782715932	368	V>M		No	ClinGen ExAC gnomAD
CA376646098 rs868932779	369	Q>R		No	ClinGen Ensembl
CA376646117 rs1555040415	370	N>I		No	ClinGen gnomAD
CA5483697 rs782055688	370	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1555040412 CA376646112	370	N>Y		No	ClinGen gnomAD
rs782774814 CA5483695	371	M>T		No	ClinGen ExAC gnomAD
CA5483696 rs201569263	371	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1555040428 CA376646141	372	E>K		No	ClinGen gnomAD
CA376646162 rs1555040431	373	G>E		No	ClinGen gnomAD
rs369140230 CA5483693	374	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA206417619 rs782107179	374	D>H		No	ClinGen ExAC TOPMed gnomAD
CA5483694 rs782107179	374	D>N		No	ClinGen ExAC TOPMed gnomAD
rs782107179 CA206417621	374	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1555040445 CA376646183	375	K>E		No	ClinGen gnomAD
rs1555041381 CA376646772	375	K>R		No	ClinGen gnomAD
rs782631545 CA5483660	376	S>C		No	ClinGen ExAC gnomAD
CA376646782 rs1555041383	376	S>N		No	ClinGen gnomAD
CA376646785 rs1555041385	376	S>R		No	ClinGen gnomAD
rs377119757 CA5483659	377	Q>*		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs372203255 CA5483658	378	Q>*		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs1555041398 CA376646815	380	G>S		No	ClinGen gnomAD
rs481271 CA206418224	381	R>*		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA5483654 rs200246089	381	R>Q		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs782525349 CA5483653	382	V>M		No	ClinGen ExAC gnomAD
rs781864131 CA5483652	383	V>A		No	ClinGen ExAC gnomAD
rs540978266 CA5483651	384	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs781941411 CA206418259	385	G>C		No	ClinGen ExAC gnomAD
CA5483649 rs781941411	385	G>S		No	ClinGen ExAC gnomAD
CA376646853 rs1555041430	385	G>V		No	ClinGen gnomAD
CA206418268 rs371932539	387	Y>*		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA5483647 rs782707067	387	Y>C		No	ClinGen ExAC gnomAD
CA376646879 rs1555041448	388	M>R		No	ClinGen gnomAD
CA376646877 rs1555041448 COSM3397133	388	M>T	central_nervous_system [Cosmic]	No	ClinGen cosmic curated gnomAD
rs781956943 CA5483645	388	M>V		No	ClinGen ExAC gnomAD
rs1565247578 CA376646896	389	Y>*		No	ClinGen Ensembl
rs782390457 CA5483644	389	Y>F		No	ClinGen ExAC
CA376646901 rs1555041455	390	T>A		No	ClinGen gnomAD
COSM3786685 CA5483642 rs562448691	391	R>C	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs199820088 CA5483641	391	R>H		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs562448691 CA206418289	391	R>S		No	ClinGen 1000Genomes ExAC gnomAD
CA5483638 rs201812683	392	G>D		No	ClinGen ESP ExAC gnomAD
rs200101623 CA5483639	392	G>S		No	ClinGen 1000Genomes ExAC gnomAD
rs201812683 CA5483637	392	G>V		No	ClinGen ESP ExAC gnomAD
CA376646949 rs1555041471	394	E>Q		No	ClinGen gnomAD
CA5483636 rs782253085	395	L>V		No	ClinGen ExAC gnomAD
rs781897218 CA5483633	396	E>D		No	ClinGen ExAC gnomAD
rs539961185 CA5483634	396	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA5483632 rs782722682	397	H>L		No	ClinGen ExAC gnomAD
CA5483631 rs781840360	397	H>Q		No	ClinGen ExAC gnomAD
rs572525009 CA5483629	398	W>*		No	ClinGen 1000Genomes ExAC gnomAD
CA376647000 rs1555041485	398	W>G		No	ClinGen TOPMed gnomAD
CA376646998 rs1555041485	398	W>R		No	ClinGen TOPMed gnomAD
rs370679298 CA206418333	399	D>E		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA376647013 rs1555041488	399	D>G		No	ClinGen gnomAD
CA5483627 rs535884152	400	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA206418336 rs535884152	400	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA376647039 rs1555041491	401	M>V		No	ClinGen gnomAD
CA5483626 rs782805201	402	L>P		No	ClinGen ExAC gnomAD
rs1555041493 CA376647050	402	L>V		No	ClinGen gnomAD
CA5483623 rs782359624	403	S>G		No	ClinGen ExAC gnomAD
rs782082590 CA206418351	405	P>A		No	ClinGen ExAC
CA376647094 rs1555041509	405	P>R		No	ClinGen gnomAD
rs782082590 CA5483622	405	P>S		No	ClinGen ExAC
CA5483621 rs781999345	406	K>R		No	ClinGen ExAC gnomAD
rs368262162 CA5483619	407	E>V		No	ClinGen ESP ExAC gnomAD
CA5483616 rs782182267	409	V>L		No	ClinGen ExAC gnomAD
CA5483613 rs781875307 COSM918329	411	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs781875307 CA206418411	411	R>G		No	ClinGen ExAC gnomAD
CA5483611 rs782523968	411	R>H		No	ClinGen ExAC gnomAD
rs782523968 CA5483612	411	R>P		No	ClinGen ExAC gnomAD
rs782692896 CA5483609	412	W>*		No	ClinGen ExAC gnomAD
rs1555041544 CA376647169	412	W>*		No	ClinGen gnomAD
rs1555041546 CA376647177	413	H>P		No	ClinGen gnomAD
CA5483608 rs377499446	414	A>E		No	ClinGen ESP ExAC gnomAD
rs377499446 CA206418444	414	A>G		No	ClinGen ESP ExAC gnomAD
CA5483607 rs377499446	414	A>V		No	ClinGen ESP ExAC gnomAD
rs782421568 CA5483603	415	L>F		No	ClinGen ExAC gnomAD
rs782421568 CA5483604	415	L>I		No	ClinGen ExAC gnomAD
rs782064591 CA5483602	417	R>C		No	ClinGen ExAC gnomAD
rs782064591 CA206418466	417	R>G		No	ClinGen ExAC gnomAD
rs372594769 CA5483601	417	R>H		No	ClinGen ESP ExAC gnomAD
rs1555041564 CA376647234	418	T>N		No	ClinGen gnomAD
CA5483600 rs782367878	419	T>M		No	ClinGen ExAC gnomAD
rs1555041581 CA376647274	421	P>L		No	ClinGen gnomAD
CA376647271 rs1555041576	421	P>S		No	ClinGen gnomAD
rs782269989 CA5483595	422	P>C		No	ClinGen ExAC gnomAD
rs782269989 CA5483596	422	P>W		No	ClinGen ExAC gnomAD

No associated diseases with Q9BQS2

2 regional properties for Q9BQS2

Type	Name	Position	InterPro Accession
domain	C2 domain	147 - 265	IPR000008-1
domain	C2 domain	278 - 400	IPR000008-2

Functions

		Description
EC Number
Subcellular Localization	[Isoform 1]: Cell membrane ; Single-pass type III membrane protein ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
exocytic vesicle	A transport vesicle that mediates transport from an intracellular compartment to the plasma membrane, and fuses with the plasma membrane to release various cargo molecules, such as proteins or hormones, by exocytosis.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
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+).
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.
clathrin binding	Binding to a clathrin heavy or light chain, the main components of the coat of coated vesicles and coated pits, and which also occurs in synaptic vesicles.
phosphatidylserine binding	Binding to phosphatidylserine, a class of glycophospholipids in which a phosphatidyl group is esterified to the hydroxyl group of L-serine.
SNARE binding	Binding to a SNARE (soluble N-ethylmaleimide-sensitive factor attached protein receptor) protein.

5 GO annotations of biological process

Name	Definition
calcium-ion regulated exocytosis	The release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle by fusion of the vesicle with the plasma membrane of a cell, induced by a rise in cytosolic calcium-ion levels.
cellular response to calcium ion	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium ion stimulus.
regulation of calcium ion-dependent exocytosis	Any process that modulates the frequency, rate or extent of calcium ion-dependent exocytosis.
regulation of dopamine secretion	Any process that modulates the frequency, rate or extent of the regulated release of dopamine.
vesicle-mediated transport	A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane.

45 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
Q86XP0	PLA2G4D	Cytosolic phospholipase A2 delta	Homo sapiens (Human)	PR
Q9HCH5	SYTL2	Synaptotagmin-like protein 2	Homo sapiens (Human)	PR
Q96C24	SYTL4	Synaptotagmin-like protein 4	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
Q9BQG1	SYT3	Synaptotagmin-3	Homo sapiens (Human)	PR
Q86SS6	SYT9	Synaptotagmin-9	Homo sapiens (Human)	PR
O00445	SYT5	Synaptotagmin-5	Homo sapiens (Human)	PR
P21579	SYT1	Synaptotagmin-1	Homo sapiens (Human)	PR
Q9BT88	SYT11	Synaptotagmin-11	Homo sapiens (Human)	PR
Q9H2B2	SYT4	Synaptotagmin-4	Homo sapiens (Human)	PR
O43581	SYT7	Synaptotagmin-7	Homo sapiens (Human)	PR
Q7L8C5	SYT13	Synaptotagmin-13	Homo sapiens (Human)	PR
Q6XYQ8	SYT10	Synaptotagmin-10	Homo sapiens (Human)	PR
Q5T7P8	SYT6	Synaptotagmin-6	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
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
Q50L43	Pla2g4d	Cytosolic phospholipase A2 delta	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
Q8C6N3	Syt15	Synaptotagmin-15	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
P21707	Syt1	Synaptotagmin-1	Rattus norvegicus (Rat)	PR
P59926	Syt15	Synaptotagmin-15	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MAEQLALVIG	GTIGGLLLLL	LIGASCCLWR	RFCATLTYEE	LPGTPAMATT	AASSGQRDRP
70	80	90	100	110	120
CQPHARTQLS	RPPAVPFVVP	PTLQGRDWVP	LHSGEWADAP	WDPCPASELL	PHTSSGGLGD
130	140	150	160	170	180
ACMVGAINPE	LYKFPEDKSE	TDFPDGCLGR	LWFSVEYEQE	AERLLVGLIK	AQHLQAPSET
190	200	210	220	230	240
CSPLVKLYLL	PDERRFLQSK	TKRKTSNPQF	DEHFIFQVSS	KTITQRVLKF	SVYHVDRQRK
250	260	270	280	290	300
HQLLGQVLFP	LKNETLVGDC	RRVIWRDLEA	ESLEPPSEFG	DLQFCLSYND	YLSRLTVVVL
310	320	330	340	350	360
RAKGLRLQED	RGIVSVFVKV	SLMNHNKFVK	CKKTSAVLGS	INPVYNETFS	FKADATELDT
370	380	390	400	410	420
ASLSLTVVQN	MEGDKSQQLG	RVVVGPYMYT	RGRELEHWDE	MLSKPKELVK	RWHALCRTTE

P