AiPD: Autoinhibited Protein Database

Q96PD2

Gene name	DCBLD2 (CLCP1, ESDN)
Protein name	Discoidin, CUB and LCCL domain-containing protein 2
Names	CUB, LCCL and coagulation factor V/VIII-homology domains protein 1, Endothelial and smooth muscle cell-derived neuropilin-like protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:131566
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

681-766 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

681-766 (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 Q96PD2

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96PD2-F1	Predicted				AlphaFoldDB

613 variants for Q96PD2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA353629612 rs1486764601	2	A>G		No	ClinGen TOPMed gnomAD
CA353629616 rs1383765701	2	A>S		No	ClinGen TOPMed
CA353629611 rs1486764601	2	A>V		No	ClinGen TOPMed gnomAD
CA79639882 rs951768614	4	R>P		No	ClinGen Ensembl
rs775488614 CA2512786	4	R>W		No	ClinGen ExAC gnomAD
rs532118815 CA353629598	5	A>P		No	ClinGen 1000Genomes gnomAD
rs532118815 CA79639881	5	A>S		No	ClinGen 1000Genomes gnomAD
rs1307600613 CA353629573	9	A>S		No	ClinGen gnomAD
CA353629575 rs1307600613	9	A>T		No	ClinGen gnomAD
rs745812407 CA2512784	10	R>K		No	ClinGen ExAC gnomAD
rs745812407 CA353629566	10	R>M		No	ClinGen ExAC gnomAD
rs745812407 CA353629567	10	R>T		No	ClinGen ExAC gnomAD
CA353629561 rs1231123447	11	R>C		No	ClinGen gnomAD
rs1409619844 CA353629552	12	C>F		No	ClinGen TOPMed gnomAD
CA353629556 rs1313936567	12	C>R		No	ClinGen gnomAD
CA353629537 rs1242363923	14	Q>H		No	ClinGen TOPMed
CA353629539 rs1300455306	14	Q>R		No	ClinGen TOPMed gnomAD
CA353629534 rs1576212642	15	C>R		No	ClinGen Ensembl
CA353629532 rs1462903235	15	C>Y		No	ClinGen gnomAD
CA353629526 rs1559805491	16	P>A		No	ClinGen Ensembl
CA353629524 rs1368021708	16	P>L		No	ClinGen gnomAD
CA353629520 rs1485664781	17	Q>*		No	ClinGen TOPMed
rs866505472 CA79639838	19	R>W		No	ClinGen Ensembl
rs1576212625 CA353629502	20	A>P		No	ClinGen Ensembl
CA353629494 rs1476348179	20	A>V		No	ClinGen gnomAD
CA353629470 rs1181657101	22	A>D		No	ClinGen gnomAD
CA353629463 rs1193517821	23	A>D		No	ClinGen TOPMed
CA353629462 rs1193517821	23	A>G		No	ClinGen TOPMed
rs1193517821 CA353629460	23	A>V		No	ClinGen TOPMed
CA353629454 rs369032659	24	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2512782 rs772164232	24	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2512781 rs369032659	24	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1264389751	26	A>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA353629410 rs1559805424	27	W>C		No	ClinGen Ensembl
COSM4158693 CA2512779 COSM4158692 rs202241867	27	W>R	thyroid [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP TOPMed
rs1043546624 CA79639780	29	A>T		No	ClinGen Ensembl
rs190637453 CA2512775	30	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353629358 rs1559805408	31	P>T		No	ClinGen Ensembl
rs780577512 CA353629338	32	L>F		No	ClinGen ExAC TOPMed gnomAD
CA79639686 rs901838016	32	L>H		No	ClinGen gnomAD
CA353629343 rs780577512	32	L>I		No	ClinGen ExAC TOPMed gnomAD
CA2512774 rs780577512	32	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1182227274 CA353629315	33	S>C		No	ClinGen TOPMed gnomAD
CA353629320 rs1463091949	33	S>P		No	ClinGen gnomAD
CA2512772 rs750995343	34	R>C		No	ClinGen ExAC TOPMed gnomAD
CA353629305 rs750995343	34	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1175991538 CA353629301	34	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1175991538 CA353629296	34	R>L		No	ClinGen TOPMed
rs1175991538 CA353629298	34	R>P		No	ClinGen TOPMed
CA353629282 rs1468750533	35	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1361895299 CA353629275	36	L>F		No	ClinGen gnomAD
rs1419666330 CA353629258	37	P>H		No	ClinGen gnomAD
CA353629254 rs1419666330	37	P>L		No	ClinGen gnomAD
CA79639672 rs910731809	38	P>L		No	ClinGen Ensembl
CA79639678 rs748035890	38	P>S		No	ClinGen TOPMed
CA2512770 rs756871898	39	C>Y		No	ClinGen ExAC
CA353629211 rs1460637666	40	S>Y		No	ClinGen TOPMed
CA2512769 rs751189823	41	N>D		No	ClinGen ExAC gnomAD
CA353629190 rs1184034035	41	N>K		No	ClinGen gnomAD
CA79639651 rs894801840	41	N>T		No	ClinGen TOPMed
CA2512768 rs578174921	43	S>F		No	ClinGen ExAC gnomAD
CA353629147 rs1348064797	44	S>F		No	ClinGen gnomAD
rs1171125175 CA353629158	44	S>P		No	ClinGen TOPMed
CA2512766 rs368040324	45	F>S		No	ClinGen ESP TOPMed
CA353629107 rs1240194247	46	S>F		No	ClinGen gnomAD
TCGA novel	46	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353629088 rs1576212436	47	M>I		No	ClinGen Ensembl
CA2512764 rs752370838	47	M>K		No	ClinGen ExAC TOPMed gnomAD
rs186164278 CA353629104	47	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752370838 CA353629098	47	M>T		No	ClinGen ExAC TOPMed gnomAD
CA2512765 rs186164278	47	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353629073 rs1301885121	48	P>L		No	ClinGen TOPMed gnomAD
rs754749604 CA79639579	48	P>S		No	ClinGen TOPMed
rs972218759 CA79639551	49	L>P		No	ClinGen TOPMed
rs765051682 CA79639539	50	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1035059557 CA79639535	51	L>F		No	ClinGen Ensembl
CA353628998 rs1399214076	53	L>R		No	ClinGen gnomAD
CA79639493 rs980722986	53	L>V		No	ClinGen Ensembl
rs776601393 CA2512761	54	L>F		No	ClinGen ExAC gnomAD
CA353628970 rs1160140268	55	L>P		No	ClinGen gnomAD
rs750703805 CA79639467	55	L>V		No	ClinGen Ensembl
CA353628942 rs1394213400	57	L>Q		No	ClinGen gnomAD
rs761866734 CA2512758	61	L>F		No	ClinGen ExAC TOPMed gnomAD
rs774619235 CA353628869	62	E>K		No	ClinGen ExAC TOPMed gnomAD
CA2512756 rs774619235	62	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA353628823 rs1285928659	64	A>G		No	ClinGen gnomAD
rs1444984431 CA353628827	64	A>S		No	ClinGen gnomAD
rs1205284957 CA353628804	65	G>E		No	ClinGen gnomAD
rs202016309 CA2512755	66	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353628798 rs1347648259	66	A>S		No	ClinGen gnomAD
rs749528635 CA2512754	67	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA353627149 rs1445782368	73	G>R		No	ClinGen gnomAD
CA353627141 rs1203097589	74	H>Y		No	ClinGen gnomAD
rs1440032118 CA353627132	75	T>N		No	ClinGen gnomAD
CA79622619 rs1017560551	77	L>V		No	ClinGen TOPMed
rs763032619 CA2512734	79	P>H		No	ClinGen ExAC gnomAD
rs775900214 CA2512733	80	E>D		No	ClinGen ExAC gnomAD
CA353627074 rs1404375014	85	T>A		No	ClinGen TOPMed
rs1439981588 CA353627071	85	T>K		No	ClinGen gnomAD
CA353627072 rs1439981588	85	T>R		No	ClinGen gnomAD
rs1408776689 CA353627062	87	I>V		No	ClinGen Ensembl
rs1000899770 CA79622609	88	N>S		No	ClinGen TOPMed
CA2512730 rs777152672	91	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs771278022 CA2512729	91	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA2512728 rs747587294	92	T>I		No	ClinGen ExAC gnomAD
CA353627026 rs747587294	92	T>N		No	ClinGen ExAC gnomAD
rs746573909 CA79622568	96	S>G		No	ClinGen ExAC gnomAD
rs1559798588 CA353627001	96	S>N		No	ClinGen Ensembl
rs746573909 CA2512727	96	S>R		No	ClinGen ExAC gnomAD
CA353626986 rs1175847991	98	V>A		No	ClinGen gnomAD
rs1193485137 CA353626948	103	I>S		No	ClinGen gnomAD
CA2512725 COSM1049278 rs374307805	104	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA79622549 rs911656339	104	R>H		No	ClinGen gnomAD
CA353626944 rs374307805	104	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA353626915 rs1166400447	108	G>E		No	ClinGen gnomAD
COSM3660788 rs778605632 CA2512724 COSM3660787	108	G>R	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA353626904 rs1283375411	110	R>G		No	ClinGen gnomAD
rs1424781920 CA353626897	111	V>I		No	ClinGen gnomAD
rs552875339 CA2512721	112	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2512719 COSM1049277 rs750395871	112	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs750395871 CA2512720	112	R>P		No	ClinGen ExAC gnomAD
CA79622497 rs896264377	113	I>L		No	ClinGen TOPMed gnomAD
rs764054470 CA2512718	113	I>M		No	ClinGen ExAC gnomAD
CA353626886 rs896264377	113	I>V		No	ClinGen TOPMed gnomAD
rs370633758 CA2512717	114	K>T		No	ClinGen ESP ExAC TOPMed
CA2512716 rs775847489	116	G>D		No	ClinGen ExAC gnomAD
CA353626835 rs1327298673	120	I>V		No	ClinGen gnomAD
rs372946244 CA79622456	122	D>A		No	ClinGen ESP TOPMed
CA353626813 rs1384508030	123	S>A		No	ClinGen TOPMed
CA353626806 rs1559798511	124	D>G		No	ClinGen Ensembl
rs759845356 CA2512713	124	D>H		No	ClinGen ExAC gnomAD
rs201076823 CA2512712	125	S>A		No	ClinGen ExAC TOPMed gnomAD
rs570429993 COSM397780 CA2512711	125	S>F	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA2512710 rs747451684	127	H>D		No	ClinGen ExAC gnomAD
rs547041194 CA353626784 COSM346727	127	H>Q	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs1172481240 CA353626776	128	F>L		No	ClinGen TOPMed
rs148839492 CA2512706	134	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
rs747716152 CA2512707	134	Y>H		No	ClinGen ExAC gnomAD
rs202051574 CA2512705	135	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA353626721 rs1267477372	136	G>A		No	ClinGen TOPMed gnomAD
rs1286447242 CA353626708	138	G>A		No	ClinGen gnomAD
CA2512703 rs779664429	140	S>R		No	ClinGen ExAC gnomAD
rs1245738841 CA353626691	141	R>K		No	ClinGen TOPMed gnomAD
TCGA novel	141	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs973008502 CA79622368	143	E>G		No	ClinGen TOPMed gnomAD
VAR_050944 rs9838238 CA2512701	144	I>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs767554940 CA2512700	145	G>S		No	ClinGen ExAC gnomAD
CA2512676 rs780860044	146	K>E		No	ClinGen ExAC gnomAD
rs757224670 CA2512675	146	K>T		No	ClinGen ExAC TOPMed gnomAD
CA2512674 rs777148523	147	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA353622601 rs777148523	147	Y>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	149	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1478307158 CA353622584	149	G>V		No	ClinGen gnomAD
CA353622553 rs1474121254	154	M>K		No	ClinGen gnomAD
rs1474121254 CA353622552	154	M>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA353622540 rs1259297123	156	H>N		No	ClinGen gnomAD
rs771411018 CA2512671	156	H>R		No	ClinGen ExAC TOPMed gnomAD
rs750731591 CA2512668	158	I>T		No	ClinGen ExAC TOPMed gnomAD
rs760821917 CA2512669	158	I>V		No	ClinGen ExAC TOPMed gnomAD
CA2512667 rs767897773	160	S>T		No	ClinGen ExAC gnomAD
CA353622499 rs1292295506	162	G>D		No	ClinGen TOPMed gnomAD
TCGA novel	162	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2512665 rs888765594	162	G>S		No	ClinGen TOPMed
CA353622495 rs1231029436	163	N>D		No	ClinGen gnomAD
CA2512664 COSM3945796 COSM3945797 rs201626100	163	N>S	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA353622489 rs1313847468	164	E>K		No	ClinGen gnomAD
CA2512663 rs774886727	166	T>I		No	ClinGen ExAC gnomAD
CA2512661 rs762512291	167	L>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	168	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2512660 rs774989808	168	L>V		No	ClinGen ExAC gnomAD
CA2512659 rs769427433	169	F>L		No	ClinGen ExAC gnomAD
CA353622447 rs1463190297	170	M>I		No	ClinGen gnomAD
CA79599984 rs930574902	170	M>K		No	ClinGen gnomAD
CA353622449 rs930574902	170	M>T		No	ClinGen gnomAD
rs1187991691 CA353622435	172	G>R		No	ClinGen gnomAD
CA353622420 rs1254179959	174	H>R		No	ClinGen TOPMed
rs573544033 CA79599980	178	R>C		No	ClinGen 1000Genomes TOPMed gnomAD
rs745540902 CA2512658	178	R>H		No	ClinGen ExAC gnomAD
CA79599968 rs939159801	179	G>R		No	ClinGen Ensembl
TCGA novel	179	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770902854 CA2512656	180	F>Y		No	ClinGen ExAC gnomAD
CA2512655 rs180752673	182	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353622339 rs777925491	187	I>R		No	ClinGen ExAC TOPMed gnomAD
CA2512654 rs777925491	187	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1336491598 CA353622342	187	I>V		No	ClinGen TOPMed gnomAD
rs1313094988 CA353622333	188	D>G		No	ClinGen TOPMed
rs755096057 CA2512652	189	K>E		No	ClinGen ExAC gnomAD
rs780131190 CA2512629	192	L>P		No	ClinGen ExAC gnomAD
CA353622119 rs1559775564	193	I>S		No	ClinGen Ensembl
CA353622097 rs1485515468	196	L>F		No	ClinGen gnomAD
rs1278819346 CA353622092	197	D>G		No	ClinGen gnomAD
rs746072124 CA2512627	198	T>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	202	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2512626 rs757600713	205	P>A		No	ClinGen ExAC gnomAD
rs757600713 CA2512625	205	P>S		No	ClinGen ExAC gnomAD
rs753246435 CA2512597	210	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA2512596 rs779350740	216	L>Q		No	ClinGen ExAC gnomAD
rs1183956873 CA353621950	216	L>V		No	ClinGen gnomAD
CA353621921 rs1296000206	221	E>K		No	ClinGen TOPMed
rs753692190 CA79593897	223	S>P		No	ClinGen TOPMed
rs1180241038 CA353621894	225	T>A		No	ClinGen gnomAD
rs1228568683 CA353621890	225	T>I		No	ClinGen TOPMed
CA353621874 rs1459165500	228	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1314406101 CA353621850	231	R>I		No	ClinGen TOPMed
rs904553739 CA79593852	235	P>R		No	ClinGen Ensembl
CA2512581 rs370988226	235	P>S		No	ClinGen ESP ExAC gnomAD
TCGA novel	235	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2512580 rs748403897	237	C>Y		No	ClinGen ExAC gnomAD
rs755402029 CA2512578	238	M>T		No	ClinGen ExAC gnomAD
rs779341410 CA2512579	238	M>V		No	ClinGen ExAC gnomAD
CA353621785 rs1309424790	239	A>V		No	ClinGen gnomAD
rs1232938839 CA353621781	240	G>D		No	ClinGen gnomAD
rs779687763 CA353621763	243	A>S		No	ClinGen ExAC gnomAD
rs779687763 CA2512576	243	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA79593846 rs867654698	244	G>*		No	ClinGen Ensembl
rs750095019 CA2512574	248	N>D		No	ClinGen ExAC gnomAD
CA353621729 rs1010944678	249	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA79593838 rs747492072	249	T>M		No	ClinGen gnomAD
CA79593842 rs1010944678	249	T>P		No	ClinGen gnomAD
CA79593840 rs747492072	249	T>R		No	ClinGen gnomAD
rs868334270 CA79593832	252	G>D		No	ClinGen Ensembl
COSM1049270 COSM3696307 rs372659271 CA2512571	252	G>S	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs762825910 CA2512569	254	I>S		No	ClinGen ExAC gnomAD
CA353621700 rs1485647559	254	I>V		No	ClinGen gnomAD
CA2512567 rs775449156	256	V>A		No	ClinGen ExAC gnomAD
CA353621686 rs1200923152	256	V>I		No	ClinGen gnomAD
CA2512564 rs773360013	257	V>A		No	ClinGen ExAC gnomAD
CA2512565 rs760806754	257	V>I		No	ClinGen ExAC TOPMed gnomAD
rs370306213 CA2512563	258	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2512562 rs748435567	259	S>R		No	ClinGen ExAC gnomAD
CA2512561 rs779100649	261	G>D		No	ClinGen ExAC TOPMed gnomAD
CA353621646 rs828616	262	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200083024 CA2512559	262	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1225432581 CA353621645	263	P>S		No	ClinGen TOPMed
TCGA novel	264	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2512557 rs755672300	264	Y>C		No	ClinGen ExAC
CA2512556 rs200547215 COSM1327160	265	Y>C	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs200547215 CA2512555	265	Y>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2512554 rs377683696	266	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs751244963 CA2512553	267	S>G		No	ClinGen ExAC gnomAD
rs763767896 CA2512552	267	S>I		No	ClinGen ExAC gnomAD
CA2512551 rs758258821	267	S>R		No	ClinGen ExAC TOPMed gnomAD
CA353621611 rs1287249822	268	S>Y		No	ClinGen gnomAD
rs765105168 CA2512549	270	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2512547 COSM1049269 rs773126257	273	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs202086393 CA2512546	276	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs369313436 CA2512545	277	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA2512503 rs764300982	278	G>A		No	ClinGen ExAC TOPMed gnomAD
CA2512504 rs764300982	278	G>E		No	ClinGen ExAC TOPMed gnomAD
CA353621521 rs1477463417	281	S>P		No	ClinGen TOPMed
CA2512502 rs763216949	284	L>I		No	ClinGen ExAC gnomAD
TCGA novel	285	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA79593341 rs568177403	285	F>S		No	ClinGen 1000Genomes
CA353621466 rs1160315771	289	T>A		No	ClinGen gnomAD
CA2512501 rs753016074	290	S>G		No	ClinGen ExAC TOPMed gnomAD
CA2512483 rs554514897	293	Y>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA353621420 rs1276655214	294	G>R		No	ClinGen gnomAD
TCGA novel	295	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1576162130 CA353621412	295	T>S		No	ClinGen Ensembl
rs759682392 CA2512479	296	L>V		No	ClinGen ExAC gnomAD
CA2512477 rs766679590	298	M>I		No	ClinGen ExAC gnomAD
rs754190694 CA2512478	298	M>V		No	ClinGen ExAC gnomAD
rs1400599716 CA353621371	302	V>M		No	ClinGen gnomAD
rs773751240 CA353621358	304	A>P		No	ClinGen ExAC TOPMed gnomAD
rs773751240 CA2512475	304	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2512474 rs200789862	304	A>V		No	ClinGen ExAC TOPMed gnomAD
CA2512473 rs569211029	306	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	310	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353621304 TCGA novel rs1576162082	312	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
CA79593129 rs1003667987	312	S>P		No	ClinGen Ensembl
rs1426315643 CA353621299	313	V>A		No	ClinGen gnomAD
CA2512470 rs552480043	314	L>R		No	ClinGen 1000Genomes ExAC gnomAD
CA2512469 rs775306628	315	E>A		No	ClinGen ExAC gnomAD
rs1472638843 CA353621293	315	E>K		No	ClinGen gnomAD
rs1190171637 CA353621285	316	W>R		No	ClinGen gnomAD
rs1443095614 CA353621272	317	T>I		No	ClinGen gnomAD
CA353621247 rs1320257827	321	G>W		No	ClinGen gnomAD
rs745768653 CA2512467	322	Q>K		No	ClinGen ExAC gnomAD
rs970828443 CA79593122	323	E>D		No	ClinGen gnomAD
rs781343967 CA2512466	324	N>S		No	ClinGen ExAC gnomAD
rs372331899 CA2512464	326	W>G		No	ClinGen ESP ExAC gnomAD
rs1340596782 CA353621175	331	A>P		No	ClinGen TOPMed gnomAD
CA353621174 rs1340596782	331	A>S		No	ClinGen TOPMed gnomAD
TCGA novel	331	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746925137 CA79593118	333	L>V		No	ClinGen Ensembl
CA353621154 rs1330082723	334	K>I		No	ClinGen gnomAD
CA353621155 rs1330082723	334	K>R		No	ClinGen gnomAD
TCGA novel	335	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1402033574 CA353621142	336	P>A		No	ClinGen gnomAD
TCGA novel	336	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	337	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368134855 CA2512462	338	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1211179451 CA353621123	339	P>L		No	ClinGen TOPMed
rs200822370 CA2512459	341	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs750919166 CA2512458	341	A>V		No	ClinGen ExAC gnomAD
rs538909861 CA2512457	345	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs762308000 CA2512456	352	Q>H		No	ClinGen ExAC gnomAD
CA353621025 rs1180823174	353	I>V		No	ClinGen TOPMed
rs763533855 CA2512454	354	D>G		No	ClinGen ExAC gnomAD
CA2512455 rs773867147	354	D>Y		No	ClinGen ExAC gnomAD
CA353621009 rs1239054399 COSM732193	355	L>F	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA2512453 rs141370463	356	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2512452 rs775043150	358	E>G		No	ClinGen ExAC gnomAD
rs1287435266 CA353620992	358	E>K		No	ClinGen gnomAD
rs769625584 CA2512451 COSM274741	359	K>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1378423088 CA353620957	363	G>S		No	ClinGen gnomAD
rs752055909 CA2512437	364	I>V		No	ClinGen ExAC gnomAD
CA2512436 rs763627440	366	T>I		No	ClinGen ExAC TOPMed gnomAD
CA2512432 rs751688122 CA2512433	371	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1427529933 CA353620895	371	M>T		No	ClinGen gnomAD
CA2512434 rs536126933	371	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA353620892 rs776519085	372	V>L		No	ClinGen ExAC TOPMed gnomAD
rs776519085 CA2512431	372	V>M		No	ClinGen ExAC TOPMed gnomAD
CA353620884 rs1559772359	373	E>A		No	ClinGen Ensembl
CA353620874 rs1184633932	374	H>L		No	ClinGen TOPMed
rs1191467726 CA353620868	375	N>S		No	ClinGen gnomAD
rs770898952 CA2512430	377	Y>C		No	ClinGen ExAC gnomAD
CA353620837 rs1559772345	379	S>F		No	ClinGen Ensembl
rs773093661 CA2512428	383	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1489701905 CA544533589	385	Y>*		No	ClinGen TOPMed gnomAD
rs749272589 CA2512426	386	S>G		No	ClinGen ExAC gnomAD
rs780184023 CA2512425	387	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1276699141 CA353620785	387	D>V		No	ClinGen gnomAD
rs149988957 CA2512424	388	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1039276818 CA79592802	389	G>R		No	ClinGen TOPMed
rs781514518 CA2512422	394	V>A		No	ClinGen ExAC gnomAD
rs781514518 CA353620735	394	V>E		No	ClinGen ExAC gnomAD
rs1433146069 CA353620734	395	Y>H		No	ClinGen TOPMed
CA353620712 rs1287543076	397	E>D		No	ClinGen TOPMed
rs1445950125 CA353620700	399	G>V		No	ClinGen gnomAD
rs369681339 CA2512420	400	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs778201205 CA2512419	402	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA2512418 rs758949733	403	D>G		No	ClinGen ExAC gnomAD
CA353620672 rs1346315893	404	K>E		No	ClinGen TOPMed
CA2512403 rs747277698	405	I>T		No	ClinGen ExAC gnomAD
CA79591667 rs973884392	411	D>G		No	ClinGen Ensembl
CA353620597 rs1324016167	412	Y>N		No	ClinGen gnomAD
rs1366633333 CA353620575	415	D>N		No	ClinGen TOPMed
CA2512401 rs375337622	417	R>C		No	ClinGen ESP ExAC gnomAD
rs753297183 CA2512400	417	R>H		No	ClinGen ExAC TOPMed gnomAD
CA79591662 rs1015338745	420	F>S		No	ClinGen TOPMed
CA353620531 rs1374698629	421	L>S		No	ClinGen TOPMed gnomAD
rs1003508445 CA79591658	422	P>R		No	ClinGen Ensembl
rs778535698 CA2512399	423	P>S		No	ClinGen ExAC TOPMed gnomAD
CA353620516 rs1347874366	424	I>V		No	ClinGen TOPMed
rs977581038 CA79591654	426	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1392150621 CA353620498	427	R>C		No	ClinGen gnomAD
CA2512398 rs372236077	427	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1267838830 CA353620450	434	T>S		No	ClinGen TOPMed
rs1438562703 CA353620398	440	I>M		No	ClinGen gnomAD
TCGA novel	444	M>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766073604 CA353620356	446	L>V		No	ClinGen ExAC TOPMed gnomAD
CA2512393 rs767364631	448	G>R		No	ClinGen ExAC gnomAD
rs539158580 CA353620327	450	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
CA2512392 rs761629907	450	Q>R		No	ClinGen ExAC gnomAD
rs867640361 CA79591644	453	P>L		No	ClinGen Ensembl
COSM1049267 rs562186974 CA2512375	456	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs186169797 COSM1049266 CA2512374	456	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1479282536 CA353620268	458	P>L		No	ClinGen gnomAD
rs1559770270 CA353620244	462	Q>E		No	ClinGen Ensembl
rs1253513773 CA353620241	462	Q>R		No	ClinGen gnomAD
rs1356206856 CA353620232	463	P>L		No	ClinGen TOPMed
CA353620235 rs1171127265	463	P>S		No	ClinGen TOPMed
CA353620225 rs1183352750	465	P>S		No	ClinGen gnomAD
CA353620214 rs1460343759	466	P>L		No	ClinGen TOPMed
CA2512371 rs762269155	467	R>L		No	ClinGen ExAC TOPMed gnomAD
CA353620212 rs762269155	467	R>P		No	ClinGen ExAC TOPMed gnomAD
CA2512370 rs762269155	467	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs763960722 CA2512372	467	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs760777099 CA2512368	468	N>S		No	ClinGen ExAC gnomAD
CA353620197 rs1453694841	469	S>R		No	ClinGen TOPMed
CA353620190 rs200283275 CA353620191	470	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2512367 rs773550480	470	N>S		No	ClinGen ExAC TOPMed gnomAD
rs907970289 CA79591497	471	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA353620189 rs1470750881	471	D>N		No	ClinGen gnomAD
rs200364471 CA79591495	476	T>P		No	ClinGen Ensembl
rs748469982 CA2512365	477	A>T		No	ClinGen ExAC gnomAD
CA2512364 rs200621366	478	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2512363 rs747391519	480	K>E		No	ClinGen ExAC TOPMed gnomAD
rs749833073 CA2512362	481	I>M		No	ClinGen ExAC TOPMed gnomAD
rs143662022 CA2512360	482	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143662022 CA2512361	482	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1185108366 CA353620115	483	K>E		No	ClinGen TOPMed
CA353620106 rs1331584686	484	G>C		No	ClinGen gnomAD
CA2512349 rs750486041	484	G>D		No	ClinGen ExAC TOPMed gnomAD
rs528427711 CA2512348	485	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM1049265 CA2512346 rs201058660	485	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA2512347 rs201058660	485	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1472753552 CA353620076	487	P>L		No	ClinGen gnomAD
rs769189498 CA2512345	488	K>T		No	ClinGen ExAC gnomAD
CA2512344 rs763518499 COSM1049264	490	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA353620056 rs763518499	490	T>R		No	ClinGen ExAC TOPMed gnomAD
CA2512342 rs769172719	491	Q>R		No	ClinGen ExAC gnomAD
CA353620048 rs1196960748	492	P>T		No	ClinGen gnomAD
rs1196372008 CA353620026	495	P>H		No	ClinGen gnomAD
rs1355577131 CA353620023	496	R>C		No	ClinGen gnomAD
rs1312751618 CA353620020	496	R>H		No	ClinGen TOPMed gnomAD
CA2512339 rs770529510	497	S>G		No	ClinGen ExAC gnomAD
CA79591446 rs377415899	499	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA gnomAD
rs865912968 CA79591445	500	E>*		No	ClinGen Ensembl
rs1308137977 CA353619990	500	E>D		No	ClinGen gnomAD
rs1444078956 CA353619983	501	F>C		No	ClinGen gnomAD
TCGA novel	503	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA79591443 rs898421526	505	T>S		No	ClinGen Ensembl
rs1576157833 CA353619952	506	E>A		No	ClinGen Ensembl
TCGA novel	506	E>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1356708860 CA353619944	507	Q>L		No	ClinGen TOPMed gnomAD
CA2512338 rs79117361	509	T>P		No	ClinGen ExAC gnomAD
rs1398533983 CA353619925	510	A>G		No	ClinGen TOPMed
rs1036928587 CA79591438	510	A>S		No	ClinGen TOPMed gnomAD
rs777513185 CA2512337	511	S>N		No	ClinGen ExAC gnomAD
TCGA novel	511	S>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2512336 rs758258524	514	I>S		No	ClinGen ExAC gnomAD
rs758258524 CA353619899	514	I>T		No	ClinGen ExAC gnomAD
rs1298195669 CA353619874	518	T>A		No	ClinGen TOPMed
rs752565095 CA2512335	519	V>I		No	ClinGen ExAC TOPMed gnomAD
rs370482457 CA2512334	520	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2512333 rs754878019	521	P>R		No	ClinGen ExAC gnomAD
TCGA novel	526	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	526	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369024442 CA2512322	528	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2512321 rs369024442	528	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353619796 rs747912159	529	L>P		No	ClinGen ExAC TOPMed gnomAD
CA2512318 rs747912159	529	L>R		No	ClinGen ExAC TOPMed gnomAD
CA353619795 rs1199105281	530	A>T		No	ClinGen TOPMed
CA353619787 rs1262316940	531	A>S		No	ClinGen gnomAD
rs1213044342 CA353619777	533	L>F		No	ClinGen gnomAD
rs1396722251 CA353619773	533	L>P		No	ClinGen TOPMed
CA2512317 rs778608317	534	V>I		No	ClinGen ExAC gnomAD
CA79590806 rs778608317	534	V>L		No	ClinGen ExAC gnomAD
rs201629117 CA2512314	538	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2512313 rs200123782	539	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA353619718 rs1238650283	543	T>A		No	ClinGen gnomAD
CA353619716 rs1382836682	543	T>N		No	ClinGen TOPMed
rs764352446 CA353619712	544	L>F		No	ClinGen ExAC TOPMed gnomAD
CA2512311 rs764352446	544	L>V		No	ClinGen ExAC TOPMed gnomAD
CA2512310 rs758552243	545	I>S		No	ClinGen ExAC gnomAD
CA353619693 rs1175667522	547	I>T		No	ClinGen gnomAD
CA79590788 rs376491392	547	I>V		No	ClinGen ESP
rs765541850 CA2512308	549	V>A		No	ClinGen ExAC TOPMed gnomAD
rs35912538 CA79590786	549	V>M		No	ClinGen Ensembl
rs760057507 CA2512307	550	C>F		No	ClinGen ExAC gnomAD
CA353619678 rs1427017885	550	C>R		No	ClinGen gnomAD
CA353619671 rs777072457	551	A>S		No	ClinGen ExAC gnomAD
CA2512306 rs777072457	551	A>T		No	ClinGen ExAC gnomAD
rs1422870066 CA353619656	553	H>Y		No	ClinGen gnomAD
CA353619646 rs1420303154	554	W>*		No	ClinGen Ensembl
TCGA novel	555	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200611163 CA2512305	555	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA353619599 rs1312556488	558	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA353619603 rs1241443427	558	K>T		No	ClinGen TOPMed
CA353619594 rs1243910584	559	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	561	T>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2512284 rs766988985	561	T>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2512285 rs367797096	561	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA2512283 rs761492142	563	G>A		No	ClinGen ExAC gnomAD
CA2512282 rs768481381	564	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs768481381 CA2512281	564	T>P		No	ClinGen ExAC gnomAD
TCGA novel	564	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA79589239 rs912275765	568	P>S		No	ClinGen gnomAD
rs1162795462 CA353619529	569	Y>C		No	ClinGen gnomAD
rs1386523338 CA353619517	570	W>C		No	ClinGen gnomAD
CA353619513 rs1452765643	571	D>G		No	ClinGen TOPMed
CA2512280 rs543559731	571	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA353619509 rs775428298	572	R>G		No	ClinGen ExAC TOPMed gnomAD
CA353619507 rs115330244	572	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353619508 rs115330244	572	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2512278 rs115330244	572	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2512279 rs775428298	572	R>W		No	ClinGen ExAC TOPMed gnomAD
CA353619391 rs1263801169	574	G>D		No	ClinGen TOPMed
rs1263801169 CA353619393	574	G>V		No	ClinGen TOPMed
rs1295745133 CA353619384	575	W>C		No	ClinGen TOPMed gnomAD
rs1481600408 CA353619361	578	G>E		No	ClinGen gnomAD
rs752437765 CA2512245	580	K>M		No	ClinGen ExAC TOPMed gnomAD
rs1193071400 CA353619319	584	P>S		No	ClinGen gnomAD
rs1193071400 CA353619320	584	P>T		No	ClinGen gnomAD
rs765110829 CA2512244	585	A>T		No	ClinGen ExAC gnomAD
rs755623701 CA79588997	588	V>M		No	ClinGen TOPMed
rs776491587 CA2512242	590	H>R		No	ClinGen ExAC TOPMed
rs370426957 CA2512241	596	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs370426957 CA353619240	596	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1417218 rs199755908 CA2512240	596	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA2512239 rs774275532	597	Y>S		No	ClinGen ExAC gnomAD
rs749511785 CA2512237	601	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1283904889 CA353619199	602	V>I		No	ClinGen gnomAD
rs775743323 CA2512236	608	R>G		No	ClinGen ExAC gnomAD
CA2512235 rs770013510	608	R>K		No	ClinGen ExAC gnomAD
rs1382232056 CA353619144	610	V>I		No	ClinGen gnomAD
rs181155610 CA2512233	612	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	612	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766248684 CA2512224	621	Y>C		No	ClinGen ExAC gnomAD
rs556441774 CA2512223	622	A>D		No	ClinGen 1000Genomes ExAC gnomAD
CA353619049 rs1328614343	623	Q>*		No	ClinGen gnomAD
CA353619040 rs1361976300	624	P>L		No	ClinGen TOPMed
rs1399302463 CA353619010	629	I>T		No	ClinGen TOPMed gnomAD
CA353619006 rs1168952962	630	V>L		No	ClinGen gnomAD
CA2512221 rs764141380	631	G>D		No	ClinGen ExAC gnomAD
CA353619001 rs1027404600	631	G>R		No	ClinGen TOPMed gnomAD
CA79588837 rs1027404600	631	G>S		No	ClinGen TOPMed gnomAD
rs762959367 CA2512220	632	T>A		No	ClinGen ExAC gnomAD
rs1445451821 CA353618993	632	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs200392684 CA2512219	633	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA353618984 rs771263683	634	H>P		No	ClinGen gnomAD
CA2512218 rs769962355	634	H>Q		No	ClinGen ExAC gnomAD
CA79588829 rs771263683	634	H>R		No	ClinGen gnomAD
rs570866712 CA2512217	636	R>S		No	ClinGen 1000Genomes ExAC gnomAD
rs771366365 CA2512215	642	E>K		No	ClinGen ExAC gnomAD
CA353618922 rs1331029408	643	E>A		No	ClinGen TOPMed
CA2512213 rs778285579	647	A>P		No	ClinGen ExAC gnomAD
rs1440499240 CA353618881	649	Y>C		No	ClinGen gnomAD
CA2512212 rs758979194	650	A>V		No	ClinGen ExAC gnomAD
rs1330196888 CA353618850	654	P>A		No	ClinGen gnomAD
CA2512211 rs747621892	654	P>L		No	ClinGen ExAC gnomAD
rs1363854635 CA353618839	655	Y>*		No	ClinGen gnomAD
rs1576151233 CA353618834	656	N>S		No	ClinGen Ensembl
rs369665355 CA79588815	659	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs369665355 CA2512209	659	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs766086260 CA2512207	662	V>A		No	ClinGen ExAC gnomAD
rs377040865 CA353618782	664	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs377040865 CA2512206	664	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2512205 rs750194151	665	A>T		No	ClinGen ExAC TOPMed gnomAD
rs767371934 CA2512204	667	A>T		No	ClinGen ExAC TOPMed gnomAD
CA79588805 rs111245657	672	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2512203 rs111245657	672	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2512202 rs367919009	673	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs904413984 CA79588796	676	E>D		No	ClinGen Ensembl
rs759645323 CA2512200	676	E>K		No	ClinGen ExAC gnomAD
CA353618687 rs1259270248	679	T>I		No	ClinGen TOPMed
rs1164022534 CA353618681	680	P>L		No	ClinGen TOPMed
rs761034410 CA2512197	681	I>V		No	ClinGen ExAC gnomAD
rs1289363646 CA353618671	682	I>T		No	ClinGen gnomAD
CA353618649 rs368906762	685	M>L		No	ClinGen ESP ExAC gnomAD
rs772659369 CA2512195	685	M>T		No	ClinGen ExAC gnomAD
rs368906762 CA2512196	685	M>V		No	ClinGen ESP ExAC gnomAD
rs748717081 CA2512194	688	H>N		No	ClinGen ExAC gnomAD
rs1344651965 CA353618621	689	P>H		No	ClinGen gnomAD
CA2512193 rs150815233	689	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748884147 CA2512191	693	V>A		No	ClinGen ExAC TOPMed gnomAD
rs779694733 CA2512190	694	G>C		No	ClinGen ExAC gnomAD
TCGA novel	695	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750189477 CA2512188	696	P>H		No	ClinGen ExAC gnomAD
CA353618573 rs1427144581	697	S>F		No	ClinGen gnomAD
CA79588771 rs936048795	701	F>S		No	ClinGen TOPMed
CA353618535 rs1314019137	703	A>D		No	ClinGen TOPMed
rs757162843 CA2512186	704	T>A		No	ClinGen ExAC TOPMed gnomAD
rs765661963 CA2512185	704	T>M		No	ClinGen ExAC TOPMed gnomAD
rs752234891 CA79588764	707	Q>*		No	ClinGen ExAC gnomAD
CA2512182 rs752234891	707	Q>K		No	ClinGen ExAC gnomAD
CA353618494 rs780606821	710	P>L		No	ClinGen gnomAD
CA353618493 rs780606821	710	P>Q		No	ClinGen gnomAD
CA79588760 rs780606821	710	P>R		No	ClinGen gnomAD
CA353618487 rs1220312098	712	V>M		No	ClinGen gnomAD
rs934021621 CA79588758	714	T>N		No	ClinGen Ensembl
CA2512180 rs190117443	716	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs975783434 CA79588755	717	T>A		No	ClinGen TOPMed
CA353618453 rs1268503113	717	T>K		No	ClinGen gnomAD
rs773692201 CA2512179	718	L>R		No	ClinGen ExAC gnomAD
TCGA novel	719	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2512178 rs772607916	721	R>K		No	ClinGen ExAC TOPMed gnomAD
rs1559765768 CA353618426	722	T>A		No	ClinGen Ensembl
rs16840208 CA2512177 COSM3696306 COSM3696305 VAR_050945	723	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs376370426 CA2512176	724	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2512175 rs749908827	724	S>N		No	ClinGen ExAC gnomAD
rs1418633939 CA353618397	726	S>C		No	ClinGen gnomAD
rs994526826 CA79588746	727	S>*		No	ClinGen TOPMed gnomAD
CA353618390 rs994526826	727	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	728	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2512173 rs200981832	729	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353618374 rs1460313220	730	A>D		No	ClinGen gnomAD
rs769435873 CA2512172	730	A>P		No	ClinGen ExAC
rs1025855126 CA353618368	731	Q>P		No	ClinGen gnomAD
CA79588740 rs1025855126	731	Q>R		No	ClinGen gnomAD
CA2512171 rs571842797	732	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
CA2512170 rs199992795	733	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200480826 CA79588738	733	D>N		No	ClinGen gnomAD
rs1576150973 CA353618350	734	T>A		No	ClinGen Ensembl
rs1576150973 CA353618351	734	T>P		No	ClinGen Ensembl
rs751485592 CA2512168	735	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1364079487 CA353618309	740	P>R		No	ClinGen TOPMed
CA79588728 rs1001179227	741	G>D		No	ClinGen TOPMed gnomAD
rs758300297 CA2512166	742	L>I		No	ClinGen ExAC gnomAD
rs1304387834 CA353618297	743	P>S		No	ClinGen gnomAD
rs762847136 CA2512165	744	A>S		No	ClinGen ExAC gnomAD
rs377651609 CA79588719	745	P>L		No	ClinGen ESP TOPMed gnomAD
CA353618283 rs377651609	745	P>R		No	ClinGen ESP TOPMed gnomAD
rs369878268 CA2512164	745	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2512162 rs750744764	746	D>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	747	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2512161 COSM1417215 rs576188055	747	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA353618274 rs576188055	747	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs762214839 CA2512160	748	L>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	749	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353618260 rs1559765650	749	V>L		No	ClinGen Ensembl
rs764618509 CA2512158	751	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA2512157 rs763388719	752	V>M		No	ClinGen ExAC gnomAD
rs775046338 CA2512156	753	P>Q		No	ClinGen ExAC gnomAD
rs1449140021 CA353618236	753	P>T		No	ClinGen TOPMed
CA353618222 rs1194299443	755	S>G		No	ClinGen TOPMed
rs1207211638 CA353618214	756	T>A		No	ClinGen gnomAD
CA2512155 rs769229798	757	Q>*		No	ClinGen ExAC gnomAD
rs1346374765 CA353618177	761	G>E		No	ClinGen TOPMed
rs1243800489 CA353618175	762	A>P		No	ClinGen gnomAD
CA353618170 rs1313659033	763	G>R		No	ClinGen gnomAD
rs1287536229 CA353618162	764	R>K		No	ClinGen TOPMed
CA2512154 rs745517659	766	G>R		No	ClinGen ExAC gnomAD
CA2512152 rs770584398	768	C>*		No	ClinGen ExAC gnomAD
CA2512153 rs776324876	768	C>Y		No	ClinGen ExAC gnomAD
CA2512151 rs746766257	769	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1368167268 CA353618108	772	K>E		No	ClinGen TOPMed
CA79588665 rs949864408	773	E>D		No	ClinGen TOPMed
rs200752492 CA2512148	774	I>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2512149 rs758333502	774	I>V		No	ClinGen ExAC gnomAD
rs1318712291 CA353618089	775	L>I		No	ClinGen TOPMed

No associated diseases with Q96PD2

3 regional properties for Q96PD2

Type	Name	Position	InterPro Accession
domain	Coagulation factor 5/8 C-terminal domain	291 - 449	IPR000421
domain	CUB domain	72 - 187	IPR000859
domain	LCCL domain	191 - 285	IPR004043

Functions

		Description
EC Number
Subcellular Localization	Membrane ; Single-pass type I membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
cell surface	The external part of the cell wall and/or plasma membrane.
integral component of plasma membrane	The component of the plasma 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.

1 GO annotations of molecular function

Name	Definition
signaling receptor activity	Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response.

3 GO annotations of biological process

Name	Definition
intracellular receptor signaling pathway	The series of molecular signals initiated by a ligand binding to a receptor located within a cell.
negative regulation of cell growth	Any process that stops, prevents, or reduces the frequency, rate, extent or direction of cell growth.
wound healing	The series of events that restore integrity to a damaged tissue, following an injury.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O60462	NRP2	Neuropilin-2	Homo sapiens (Human)	PR
O14786	NRP1	Neuropilin-1	Homo sapiens (Human)	PR
Q91ZV3	Dcbld2	Discoidin, CUB and LCCL domain-containing protein 2	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MASRAVVRAR	RCPQCPQVRA	AAAAPAWAAL	PLSRSLPPCS	NSSSFSMPLF	LLLLLVLLLL
70	80	90	100	110	120
LEDAGAQQGD	GCGHTVLGPE	SGTLTSINYP	QTYPNSTVCE	WEIRVKMGER	VRIKFGDFDI
130	140	150	160	170	180
EDSDSCHFNY	LRIYNGIGVS	RTEIGKYCGL	GLQMNHSIES	KGNEITLLFM	SGIHVSGRGF
190	200	210	220	230	240
LASYSVIDKQ	DLITCLDTAS	NFLEPEFSKY	CPAGCLLPFA	EISGTIPHGY	RDSSPLCMAG
250	260	270	280	290	300
VHAGVVSNTL	GGQISVVISK	GIPYYESSLA	NNVTSVVGHL	STSLFTFKTS	GCYGTLGMES
310	320	330	340	350	360
GVIADPQITA	SSVLEWTDHT	GQENSWKPKK	ARLKKPGPPW	AAFATDEYQW	LQIDLNKEKK
370	380	390	400	410	420
ITGIITTGST	MVEHNYYVSA	YRILYSDDGQ	KWTVYREPGV	EQDKIFQGNK	DYHQDVRNNF
430	440	450	460	470	480
LPPIIARFIR	VNPTQWQQKI	AMKMELLGCQ	FIPKGRPPKL	TQPPPPRNSN	DLKNTTAPPK
490	500	510	520	530	540
IAKGRAPKFT	QPLQPRSSNE	FPAQTEQTTA	SPDIRNTTVT	PNVTKDVALA	AVLVPVLVMV
550	560	570	580	590	600
LTTLILILVC	AWHWRNRKKK	TEGTYDLPYW	DRAGWWKGMK	QFLPAKAVDH	EETPVRYSSS
610	620	630	640	650	660
EVNHLSPREV	TTVLQADSAE	YAQPLVGGIV	GTLHQRSTFK	PEEGKEAGYA	DLDPYNSPGQ
670	680	690	700	710	720
EVYHAYAEPL	PITGPEYATP	IIMDMSGHPT	TSVGQPSTST	FKATGNQPPP	LVGTYNTLLS
730	740	750	760	770
RTDSCSSAQA	QYDTPKAGKP	GLPAPDELVY	QVPQSTQEVS	GAGRDGECDV	FKEIL