AiPD: Autoinhibited Protein Database

P78324

Gene name	SIRPA (BIT, MFR, MYD1, PTPNS1, SHPS1, SIRP)
Protein name	Tyrosine-protein phosphatase non-receptor type substrate 1
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:140885
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

166-238 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

166-238 (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

15 structures for P78324

Entry ID	Method	Resolution	Chain	Position	Source
2JJS	X-ray	185 A	A/B	31-149	PDB
2JJT	X-ray	230 A	A/B	31-149	PDB
2UV3	X-ray	180 A	A/B	31-149	PDB
2WNG	X-ray	249 A	A	31-350	PDB
4CMM	X-ray	192 A	A	31-149	PDB
6BIT	X-ray	219 A	G/H	31-147	PDB
6NMR	X-ray	242 A	E/I/M/S	31-149	PDB
6NMS	X-ray	211 A	C/S	31-149	PDB
6NMT	X-ray	183 A	C	31-149	PDB
6NMU	X-ray	255 A	C/S	31-149	PDB
6NMV	X-ray	261 A	S	31-149	PDB
7KPG	X-ray	227 A	S	33-147	PDB
7ST5	X-ray	220 A	A/F	31-149	PDB
7YGG	X-ray	276 A	A/B	31-171	PDB
AF-P78324-F1	Predicted				AlphaFoldDB

491 variants for P78324

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA408001591 rs1312698186	2	E>D		No	ClinGen TOPMed
CA408001594 rs1260136939	3	P>S		No	ClinGen TOPMed gnomAD
rs1356963795 CA408001600	4	A>S		No	ClinGen TOPMed gnomAD
CA408001598 rs1356963795	4	A>T		No	ClinGen TOPMed gnomAD
rs1292048669 CA408001608	5	G>A		No	ClinGen gnomAD
rs1210518049 CA408001605	5	G>S		No	ClinGen gnomAD
CA408001609 rs1292048669	5	G>V		No	ClinGen gnomAD
rs1198921779 CA408001614	6	P>R		No	ClinGen gnomAD
VAR_015462	6	P>RS		No	UniProt
rs755781590 CA310835503	7	A>V		No	ClinGen TOPMed gnomAD
rs1001882194 CA310835505	8	P>L		No	ClinGen TOPMed gnomAD
TCGA novel	8	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1458812035 CA408001645	12	G>R		No	ClinGen TOPMed gnomAD
VAR_015463	20	A>P		No	UniProt
rs555038801 CA9729679	27	G>E		No	ClinGen 1000Genomes ExAC gnomAD
CA310849690 rs867616851	29	A>S		No	ClinGen Ensembl
CA310849701 rs573686249	29	A>V		No	ClinGen 1000Genomes gnomAD
rs768204721 CA9729682	31	E>G		No	ClinGen ExAC gnomAD
rs754109100 CA9729686	32	E>D		No	ClinGen ExAC
CA9729684 rs756630350	32	E>G		No	ClinGen ExAC gnomAD
CA9729685 rs756630350	32	E>V		No	ClinGen ExAC gnomAD
rs755247899 CA9729687	33	E>G		No	ClinGen ExAC gnomAD
rs1405279962 CA408001801	35	Q>R		No	ClinGen gnomAD
CA9729688 rs778976139	36	V>G		No	ClinGen ExAC gnomAD
rs1367486973 CA408001811	37	I>V		No	ClinGen TOPMed gnomAD
CA408001823 rs1380579047	38	Q>H		No	ClinGen TOPMed gnomAD
CA408001838 CA408001837 VAR_015464 rs1349896458	40	D>E		No	ClinGen UniProt TOPMed dbSNP gnomAD
rs1295193905 CA408001831	40	D>N		No	ClinGen gnomAD
rs1312987697 CA408001834	40	D>V		No	ClinGen gnomAD
rs748264325 CA9729689	41	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1323485349 CA408001852	43	V>M		No	ClinGen gnomAD
CA408001863 rs146490405	44	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs386811660 CA310849801	44	L>S		No	ClinGen Ensembl
VAR_015465 rs143735290 CA9729692	44	L>S		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA9729696 rs775380062	46	A>S		No	ClinGen ExAC TOPMed gnomAD
CA9729695 rs775380062	46	A>T		No	ClinGen ExAC TOPMed gnomAD
CA9729697 rs768395547	46	A>V		No	ClinGen ExAC
CA9729701 rs767147511	47	A>D		No	ClinGen ExAC TOPMed gnomAD
CA9729699 rs761467146	47	A>S		No	ClinGen ExAC
CA9729700 rs767147511	47	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9729703 rs766744865	48	G>A		No	ClinGen ExAC
CA408001880 rs766744865	48	G>E		No	ClinGen ExAC
CA9729706 rs765505924	49	E>A		No	ClinGen ExAC gnomAD
rs758551564 CA9729709 CA9729708	49	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs755263241 CA9729705	49	E>K		No	ClinGen ExAC TOPMed gnomAD
CA9729707 rs765505924	49	E>V		No	ClinGen ExAC gnomAD
CA408001885 rs17855609	50	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9729711 rs756128180	50	T>I		No	ClinGen ExAC gnomAD
CA9729710 VAR_015466 rs17855609	50	T>S		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA310849945 rs796540290	50	T>S		No	ClinGen Ensembl
CA9729716 rs747805113	51	A>D		No	ClinGen ExAC gnomAD
CA9729715 rs768322199	51	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs768322199 CA9729714	51	A>T		No	ClinGen ExAC gnomAD
CA408001890 rs747805113	51	A>V		No	ClinGen ExAC gnomAD
rs772867783 CA9729718	52	T>A		No	ClinGen ExAC gnomAD
VAR_015468 CA9729720 rs17855610	52	T>I		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs772867783 CA9729719	52	T>P		No	ClinGen ExAC gnomAD
CA408001893 rs17855610	52	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776996791 CA9729723	53	L>M		No	ClinGen ExAC gnomAD
rs776996791 CA408001894	53	L>V		No	ClinGen ExAC gnomAD
CA408001898 rs758642581	54	R>C		No	ClinGen ExAC gnomAD
CA9729728 rs758642581	54	R>G		No	ClinGen ExAC gnomAD
CA9729729 VAR_015470 rs17855611	54	R>H		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs17855611 CA9729730	54	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9729727 rs758642581	54	R>S		No	ClinGen ExAC gnomAD
rs778881054 CA9729735	55	C>*		No	ClinGen ExAC gnomAD
rs754894636 CA9729733	55	C>F		No	ClinGen ExAC gnomAD
rs780096272 CA9729731	55	C>G		No	ClinGen ExAC gnomAD
rs780096272 CA9729732	55	C>R		No	ClinGen ExAC gnomAD
rs780096272 CA408001900	55	C>S		No	ClinGen ExAC gnomAD
rs778881054 CA408001903	55	C>W		No	ClinGen ExAC gnomAD
rs754894636 CA408001901	55	C>Y		No	ClinGen ExAC gnomAD
rs772964158 CA9729738	56	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs772964158 CA9729737	56	T>N		No	ClinGen ExAC gnomAD
rs771896459 CA9729736	56	T>P		No	ClinGen ExAC
CA408001909 rs17855612	57	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776144552 CA9729741	57	A>S		No	ClinGen ExAC TOPMed gnomAD
rs776144552 CA9729742	57	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
VAR_015471 CA9729743 rs17855612	57	A>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs764367971 CA9729749	58	T>I		No	ClinGen ExAC
rs764367971 CA9729747	58	T>N		No	ClinGen ExAC
rs764367971 CA9729748	58	T>S		No	ClinGen ExAC
rs763275466 CA9729746	58	T>S		No	ClinGen ExAC
rs767499863 CA408001915	59	S>F		No	ClinGen ExAC gnomAD
rs767499863 CA9729750	59	S>Y		No	ClinGen ExAC gnomAD
rs778969033 CA9729753	61	I>L		No	ClinGen ExAC gnomAD
rs1371837011 VAR_015472 CA408001925	61	I>N		No	ClinGen UniProt dbSNP gnomAD
rs1334752212 CA408001944	64	G>A		No	ClinGen TOPMed
TCGA novel	64	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9729754 rs752578636	65	P>S		No	ClinGen ExAC gnomAD
CA408001964 rs1314024858	67	Q>H		No	ClinGen gnomAD
VAR_015473	68	W>R		No	UniProt
CA9729755 rs758259237	70	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9729756 rs571746929	70	R>T		No	ClinGen 1000Genomes ExAC gnomAD
rs143351148 CA9729759	72	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA9729758 rs143351148	72	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA9729760 rs539268857	74	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA310850178 rs539268857	74	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9729761 VAR_015474 rs1057114	75	G>A		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA408002012 rs1057114	75	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA408002014 rs1370042282	76	R>Q		No	ClinGen TOPMed gnomAD
CA9729762 rs775972376	76	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1182420620 CA408002017 VAR_015475	77	E>K		No	ClinGen UniProt dbSNP gnomAD
CA408002038 rs1446582576	79	I>M		No	ClinGen TOPMed gnomAD
VAR_015477	81	N>H		No	UniProt
CA408002081 rs1250110733	85	G>S		No	ClinGen TOPMed
TCGA novel	89	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1441903737 CA408002109	89	R>P		No	ClinGen TOPMed gnomAD
rs1441903737 CA408002108	89	R>Q		No	ClinGen TOPMed gnomAD
CA9729765 rs140361473	89	R>W		No	ClinGen ESP ExAC gnomAD
rs767728473 CA9729767	90	V>I		No	ClinGen ExAC gnomAD
rs1296766988 CA408002117	91	T>A		No	ClinGen gnomAD
CA408002133 rs1342463990	93	V>G		No	ClinGen gnomAD
CA9729771 CA310850238 VAR_015478 rs138283486	95	D>E		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP
CA310850224 rs386811661	95	D>ES		No	ClinGen Ensembl
rs149634649 CA310850246	96	L>F		No	ClinGen 1000Genomes TOPMed gnomAD
rs146163282 CA310850247	96	L>H		No	ClinGen 1000Genomes TOPMed
rs149634649 CA408002146	96	L>I		No	ClinGen 1000Genomes TOPMed gnomAD
rs146163282 CA310850248	96	L>P		No	ClinGen 1000Genomes TOPMed
rs146163282 CA408002148	96	L>R		No	ClinGen 1000Genomes TOPMed
VAR_015479	96	L>S		No	UniProt
rs752664719 CA9729773	97	T>I		No	ClinGen ExAC
CA408002161 rs1210545251	98	K>N		No	ClinGen gnomAD
TCGA novel	99	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs17855613 CA9729774	100	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA310850273 VAR_015480 rs386811662	100	N>E	requires 2 nucleotide substitutions [UniProt]	No	ClinGen UniProt Ensembl dbSNP
rs1403798207 CA408002173	100	N>I		No	ClinGen TOPMed
rs17855614 CA9729775	100	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754641900 CA310850301	102	M>I		No	ClinGen gnomAD
rs142085206 CA9729777	102	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA408002186 rs1384642105	102	M>T		No	ClinGen gnomAD
rs142085206 CA9729776	102	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA408002194 rs1471635352	103	D>V		No	ClinGen TOPMed gnomAD
rs780866974 CA9729778	106	I>M		No	ClinGen ExAC gnomAD
CA9729780 rs17855615	107	R>C		No	ClinGen ExAC TOPMed gnomAD
CA408002217 rs17855615	107	R>G		No	ClinGen ExAC TOPMed gnomAD
VAR_015483 rs17855615 CA9729779	107	R>S		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
CA408002222 rs1409816206	108	I>V		No	ClinGen gnomAD
rs17855616 CA408002229	109	G>R		No	ClinGen ExAC TOPMed gnomAD
CA9729782 rs17855616 VAR_015484	109	G>S		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs555869067 CA9729784	110	N>K		No	ClinGen 1000Genomes ExAC gnomAD
rs200920826 CA9729783	110	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	111	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9729787 rs773474735	114	A>G		No	ClinGen ExAC TOPMed gnomAD
CA408002258 rs1432266948	114	A>T		No	ClinGen gnomAD
CA9729789 rs766576360	116	A>G		No	ClinGen ExAC gnomAD
CA408002275 rs766576360	116	A>V		No	ClinGen ExAC gnomAD
CA408002278 rs1203000287	117	G>D		No	ClinGen gnomAD
rs377556462 CA9729791	117	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs138711836 CA9729793	118	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA408002291 rs1240577393	119	Y>C		No	ClinGen gnomAD
TCGA novel	123	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767136065 VAR_015485 CA9729795	125	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen UniProt ExAC NCI-TCGA dbSNP gnomAD
rs750090514 CA9729796	126	K>T		No	ClinGen ExAC
CA9729800 rs755486043	127	G>E		No	ClinGen ExAC gnomAD
rs779570157 CA9729799	127	G>R		No	ClinGen ExAC
CA9729798 rs779570157	127	G>W		No	ClinGen ExAC
rs748524423 CA9729802	128	S>I		No	ClinGen ExAC TOPMed gnomAD
rs772467858 CA9729803	129	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
COSM315199 rs771231945 CA408002361	130	D>A	lung [Cosmic]	No	ClinGen cosmic curated ExAC
CA9729806 rs747269909	130	D>N		No	ClinGen ExAC gnomAD
rs771231945 CA9729807	130	D>V		No	ClinGen ExAC
CA310850462 rs201761690	131	D>N		No	ClinGen Ensembl
CA9729811 rs114499682	132	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs115287948 CA408002372	132	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs115287948 CA9729810	132	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs386811663 CA310850497 VAR_015486	132	V>T	requires 2 nucleotide substitutions [UniProt]	No	ClinGen UniProt Ensembl dbSNP
CA408002378 rs1555771059	133	E>*		No	ClinGen Ensembl
CA408002376 rs1555771059	133	E>K		No	ClinGen Ensembl
VAR_015487	134	F>L		No	UniProt
rs1237114618 CA408002393	135	K>E		No	ClinGen TOPMed gnomAD
TCGA novel	136	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9729814 rs750177982	138	A>P		No	ClinGen ExAC TOPMed gnomAD
rs755783426 CA9729815	140	T>S		No	ClinGen ExAC gnomAD
CA310850523 rs371173447	141	E>D		No	ClinGen ESP TOPMed gnomAD
CA408002435 rs1271295016	142	L>M		No	ClinGen gnomAD
TCGA novel	142	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	144	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9729818 rs754503197	145	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM3785350 CA9729819 COSM3785351 rs779342446	145	R>H	pancreas Variant assessed as Somatic; 0.0001392 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA9729821 rs561231326	146	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA408003572 rs1398411571	146	A>V		No	ClinGen gnomAD
rs1600434224 CA408003588	147	K>N		No	ClinGen Ensembl
rs1389441258 CA408003582	147	K>T		No	ClinGen gnomAD
CA408003611 rs1328169498	149	S>C		No	ClinGen gnomAD
TCGA novel	149	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9729835 rs143335460	152	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143335460 CA9729836	152	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs370744062 CA9729837	154	S>L		No	ClinGen ExAC gnomAD
TCGA novel	156	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9729839 rs532628857	157	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9729840 rs532628857	157	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9729842 rs148378409	158	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1024315516 CA310855635	160	A>S		No	ClinGen TOPMed
CA9729844 rs141549443	160	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
VAR_015488	163	Q>D	requires 2 nucleotide substitutions [UniProt]	No	UniProt
rs202077577 CA310855666	163	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA310855674 rs970024482	165	T>A		No	ClinGen TOPMed gnomAD
rs1170772172 CA408003833	168	F>L		No	ClinGen gnomAD
CA9729847 rs769868568	169	T>I		No	ClinGen ExAC gnomAD
rs746107736 CA9729846	169	T>S		No	ClinGen ExAC gnomAD
rs749303552 CA9729849	171	E>K		No	ClinGen ExAC TOPMed gnomAD
CA408003895 rs1238711335	172	S>C		No	ClinGen TOPMed
rs139476824 CA9729852	174	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139476824 CA9729851	174	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	175	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408003944 rs1380729558	176	S>L		No	ClinGen gnomAD
CA9729853 rs770721545	178	R>G		No	ClinGen ExAC gnomAD
CA408003964 rs1296642085	178	R>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	180	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA310855751 rs913702063	180	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1225714969 CA408004002	181	T>N		No	ClinGen gnomAD
VAR_015489	181	T>S		No	UniProt
CA408004009 rs1344297150	182	L>V		No	ClinGen TOPMed
rs1323601039 CA408004017	183	K>Q		No	ClinGen TOPMed
CA9729854 rs776219453	183	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	184	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764778039 CA9729856	185	F>L		No	ClinGen ExAC gnomAD
rs752293944 CA9729857	186	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	187	N>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200439865 CA408004092	188	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200439865 CA9729858	188	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1157839332 CA408004091	188	G>W		No	ClinGen TOPMed
CA9729859 rs764759187	189	N>H		No	ClinGen ExAC gnomAD
CA408004098 rs1263418811	189	N>S		No	ClinGen gnomAD
CA408004095 rs764759187	189	N>Y		No	ClinGen ExAC gnomAD
CA408004107 rs142746467	190	E>D		No	ClinGen ESP
VAR_015490	190	E>Q		No	UniProt
CA9729860 rs752127082	192	S>P		No	ClinGen ExAC gnomAD
rs757772647 CA9729861	194	F>L		No	ClinGen ExAC TOPMed gnomAD
CA9729862 rs768027007	196	T>S		No	ClinGen ExAC gnomAD
rs367635507 CA9729864	197	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA310855831 rs191126675	198	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs191126675 CA9729865	198	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs947569263 CA310855834	199	D>N		No	ClinGen Ensembl
CA9729866 rs749450960	200	P>S		No	ClinGen ExAC gnomAD
rs746950408 CA9729869	201	V>A		No	ClinGen ExAC TOPMed gnomAD
VAR_015491	201	V>AR		No	UniProt
RCV000887181 rs115894672 CA9729868	201	V>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1177898369 CA408004187	203	E>D		No	ClinGen TOPMed gnomAD
CA408004190 rs1568505952	204	S>G		No	ClinGen Ensembl
CA9729872 rs183144771 CA9729871	204	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs556014813 CA9729873	205	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA408004207 rs1437968385	207	Y>H		No	ClinGen TOPMed
rs1600435061 CA408004211	207	Y>S		No	ClinGen Ensembl
CA310855870 rs888745506	208	S>N		No	ClinGen TOPMed gnomAD
rs1225722948 CA408004227	209	I>M		No	ClinGen gnomAD
CA9729874 rs774996103	210	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1215901087 CA408004248	212	T>I		No	ClinGen TOPMed gnomAD
rs188077907 RCV000882878 CA9729877	213	A>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_015492	214	K>N		No	UniProt
CA310855887 rs199532889	216	V>M		No	ClinGen 1000Genomes
CA9729879 rs767886843	219	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9729880 rs140075472	219	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_015493	220	E>G		No	UniProt
CA9729882 rs201193311	220	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	221	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
VAR_015494 rs143385810 COSM443508 CA9729884	222	V>I	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs143385810 CA310855928	222	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA408004322 rs1322463841	225	Q>E		No	ClinGen TOPMed
rs1347077090 CA408004337	227	I>F		No	ClinGen gnomAD
COSM1647367 CA9729887 rs200513155 COSM723498	230	V>M	lung urinary_tract prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs745737488 CA9729889	232	H>Y		No	ClinGen ExAC gnomAD
rs199733185 COSM723497 CA9729891 COSM1647366	233	V>I	lung kidney prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs748980816 CA9729892	234	T>I		No	ClinGen ExAC TOPMed gnomAD
rs748980816 CA9729893	234	T>S		No	ClinGen ExAC TOPMed gnomAD
VAR_015495	236	Q>R		No	UniProt
TCGA novel	238	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408004418 rs1600435474	239	P>L		No	ClinGen Ensembl
rs761374773 CA9729895	239	P>S		No	ClinGen ExAC TOPMed gnomAD
VAR_015496	239	P>SF		No	UniProt
CA310856017 rs369093228	241	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
TCGA novel	242	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1358873982 CA408004446	244	A>G		No	ClinGen TOPMed
CA310856032 rs761181759	245	N>D		No	ClinGen ExAC gnomAD
CA9729898 rs761181759	245	N>H		No	ClinGen ExAC gnomAD
CA9729899 rs140418541	249	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA9729900 rs373611629	250	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA408004486 rs1335057162	251	R>*		No	ClinGen gnomAD
VAR_015497 rs377448893 CA9729901	251	R>Q		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
rs1331379264 CA408004510	253	P>Q		No	ClinGen gnomAD
rs751609627 CA9729924	253	P>T		No	ClinGen ExAC
rs1270564763 CA408004520	255	T>A		No	ClinGen gnomAD
rs1306879912 CA408004523	255	T>I		No	ClinGen gnomAD
rs1270564763 CA408004521	255	T>S		No	ClinGen gnomAD
VAR_015498	261	Q>L		No	UniProt
CA408004563 rs1428530571	261	Q>P		No	ClinGen TOPMed
CA408004578 rs1237129974	263	V>G		No	ClinGen gnomAD
VAR_015499 rs754806675 CA9729928	263	V>M		No	ClinGen UniProt ExAC dbSNP gnomAD
rs1475834892 CA408004601	267	N>D		No	ClinGen gnomAD
CA408004614 rs1188686874	268	Q>H		No	ClinGen gnomAD
rs1417859969 CA408004626	270	N>S		No	ClinGen gnomAD
CA408004634 rs1465413794	271	V>A		No	ClinGen gnomAD
VAR_015500	271	V>I		No	UniProt
CA9729929 rs778793021	275	V>L		No	ClinGen ExAC TOPMed gnomAD
VAR_015501	276	R>T		No	UniProt
CA9729931 rs771711753	277	K>R		No	ClinGen ExAC TOPMed gnomAD
rs777166825 CA9729932	281	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA408004711 rs1432410417	282	R>S		No	ClinGen TOPMed gnomAD
rs746503962 CA9729933	286	T>S		No	ClinGen ExAC gnomAD
rs370831282 CA9729937	291	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs764356789 CA9729940	293	V>E		No	ClinGen ExAC gnomAD
rs151006495 CA9729939	293	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA9729944 rs753839133	295	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs2422665 CA9729942	295	R>W		No	ClinGen ExAC TOPMed gnomAD
CA310856601 rs141989867	296	T>A		No	ClinGen ESP TOPMed gnomAD
rs558867758 CA9729945	296	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA408004882 rs558867758	296	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs558867758 CA9729946	296	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1021538813 CA310856620	298	T>M		No	ClinGen TOPMed gnomAD
CA9729949 rs777448693	301	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1403539600 CA408004946	301	T>I		No	ClinGen TOPMed
rs2422666 CA9729952	302	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA9729951 rs2422666 COSM72648	302	V>I	ovary Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA310856645 VAR_015502 rs2422666	302	V>L		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
CA9729953 rs746410414	303	T>I		No	ClinGen ExAC gnomAD
CA9729955 rs2422667	304	E>D		No	ClinGen ExAC TOPMed gnomAD
CA408004986 rs1232487890	305	N>S		No	ClinGen gnomAD
TCGA novel	306	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA310856670 rs1032208389	307	D>G		No	ClinGen Ensembl
CA9729956 rs368100826	310	Y>H		No	ClinGen ESP ExAC gnomAD
rs768829349 CA9729957	311	N>S		No	ClinGen ExAC TOPMed gnomAD
rs768829349 CA9729958	311	N>T		No	ClinGen ExAC TOPMed gnomAD
rs761882921 CA9729959	312	W>R		No	ClinGen ExAC TOPMed gnomAD
rs976892281 CA310856699	313	M>I		No	ClinGen TOPMed
rs1252632302 CA408005095	313	M>L		No	ClinGen TOPMed
rs767709533 CA9729960	314	S>R		No	ClinGen ExAC gnomAD
rs765241332 CA9729963	323	H>R		No	ClinGen ExAC gnomAD
rs370533198 CA9729964	324	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	324	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA310856769 rs199583931	328	K>R		No	ClinGen 1000Genomes
CA9729966 rs763740975	330	T>P		No	ClinGen ExAC gnomAD
CA408005302 rs1568507131	332	Q>H		No	ClinGen Ensembl
CA9729968 rs756864389	332	Q>R		No	ClinGen ExAC
CA408005306 rs1156236080	333	V>L		No	ClinGen gnomAD
CA408005304 rs1156236080	333	V>M		No	ClinGen gnomAD
rs756656814 CA9729971	337	G>R		No	ClinGen ExAC gnomAD
CA408005339 rs1363533702	338	Q>K		No	ClinGen gnomAD
rs1329535913 CA408005347	339	P>A		No	ClinGen gnomAD
VAR_015503	339	P>S		No	UniProt
TCGA novel	340	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1649861 COSM576692 rs1433660920 CA408005358	340	A>V	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA310856827 rs1017124411	341	V>F		No	ClinGen TOPMed
rs200179222 CA9729974 RCV000883105	342	S>T		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA408005382 rs1158059336	344	S>N		No	ClinGen TOPMed
rs1600437796 CA408005398	346	D>A		No	ClinGen Ensembl
rs1307115722 CA408005395	346	D>N		No	ClinGen gnomAD
CA9729978 rs773473733	349	V>F		No	ClinGen ExAC gnomAD
rs1600437854 CA408005422	350	S>A		No	ClinGen Ensembl
rs1440005516 CA408005436	352	H>P		No	ClinGen gnomAD
rs769916724 CA9729980	352	H>Q		No	ClinGen ExAC gnomAD
CA408005435 rs1251879296	352	H>Y		No	ClinGen gnomAD
rs138876160 VAR_015504 CA9729981	353	P>L		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
rs138876160 CA9729982	353	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA9729984 rs751263972	354	K>E		No	ClinGen ExAC gnomAD
rs371795489 CA9729985	354	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1331716018 CA408005460	356	Q>E		No	ClinGen gnomAD
rs1600437937 CA408005462	356	Q>R		No	ClinGen Ensembl
rs1200233096 VAR_015505 CA408005466	357	G>S		No	ClinGen UniProt TOPMed dbSNP
CA408005475 rs1168223572	358	S>*		No	ClinGen gnomAD
rs74625621 CA9729987	360	T>P		No	ClinGen ExAC gnomAD
rs981667353 CA310856878	361	A>S		No	ClinGen TOPMed gnomAD
rs981667353 CA408005491	361	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA9729991 rs755396026	362	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs753235283	363	E>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA408005518 rs1324824296	363	E>A		No	ClinGen gnomAD
CA310858419 rs1018011271	364	N>S		No	ClinGen TOPMed gnomAD
VAR_015506	367	S>P		No	UniProt
CA9730013 rs375872863	369	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1410245745 CA408005558	369	E>G		No	ClinGen TOPMed
CA9730015 VAR_015507 rs778218860	370	R>Q		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs200858478 CA9730014	370	R>W	Variant assessed as Somatic; 0.0001848 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs771010369 CA9730017	371	N>T		No	ClinGen ExAC TOPMed gnomAD
CA9730018 rs181742590	372	I>F		No	ClinGen 1000Genomes ExAC gnomAD
rs368720222 CA9730019	374	I>M		No	ClinGen ESP TOPMed gnomAD
TCGA novel	377	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	379	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA310858487 rs12624995	379	V>G		No	ClinGen Ensembl
rs1376041755 CA408005638	382	L>S		No	ClinGen gnomAD
TCGA novel	385	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408005657 rs1170284788	385	A>V		No	ClinGen gnomAD
VAR_015508	389	A>E		No	UniProt
CA310858518 rs112407891	389	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA9730023 rs112407891	389	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA9730024 rs748023319	389	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA310858530 rs146048438	390	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9730026 rs146048438	390	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs765921966 CA9730028	393	L>F		No	ClinGen ExAC gnomAD
CA408005706 rs1487072320	394	V>A		No	ClinGen gnomAD
rs140079423 CA9730030	394	V>I		No	ClinGen ESP ExAC gnomAD
CA9730031 rs765828306	395	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9730051 rs763605516	401	A>V		No	ClinGen ExAC gnomAD
rs1600449368 CA407999577	402	Q>E		No	ClinGen Ensembl
COSM379678 CA407999594 rs1568510825	403	G>C	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
CA310792716 rs941843579	403	G>D		No	ClinGen TOPMed
CA407999599 rs941843579	403	G>V		No	ClinGen TOPMed
rs1349834945 CA407999611	404	S>F		No	ClinGen gnomAD
CA9730052 rs764665145	405	T>S		No	ClinGen ExAC gnomAD
CA407999631 rs1374088454	406	S>F		No	ClinGen gnomAD
CA407999645 rs1445393851	407	S>C		No	ClinGen gnomAD
CA9730054 rs757552603	408	T>A	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9730087 rs141454528	414	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1401634189 CA408000080	417	A>T		No	ClinGen TOPMed gnomAD
rs1486310769 CA408000086	418	R>G		No	ClinGen Ensembl
CA9730088 rs745645458	419	E>G		No	ClinGen ExAC TOPMed gnomAD
rs955216012 CA310796402	420	I>T		No	ClinGen TOPMed gnomAD
rs769637747 CA9730089	420	I>V		No	ClinGen ExAC gnomAD
rs779843288 CA9730090	421	T>I		No	ClinGen ExAC gnomAD
CA9730092 rs768288574	422	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA9730091 rs748895218	422	Q>R		No	ClinGen ExAC gnomAD
CA408000379 rs1192857709	423	D>N		No	ClinGen Ensembl
CA408000403 rs1210742811	424	T>I		No	ClinGen TOPMed gnomAD
rs1568516838 CA408000410	425	N>D		No	ClinGen Ensembl
rs1450343462 CA408000414	425	N>S		No	ClinGen gnomAD
CA408000444 rs1232996262	427	I>T		No	ClinGen TOPMed gnomAD
CA408000469 rs1600468750	429	Y>C		No	ClinGen Ensembl
rs773754915 CA9730115	429	Y>H		No	ClinGen ExAC gnomAD
CA408000481 rs1267575632	430	A>S		No	ClinGen gnomAD
CA9730116 rs747456966	431	D>V		No	ClinGen ExAC gnomAD
rs1600468793 CA408000523	433	N>T		No	ClinGen Ensembl
CA408000568 rs1388528170	436	K>N		No	ClinGen gnomAD
CA408000578 rs1472583308	437	G>E		No	ClinGen TOPMed
CA310798053 rs887974925	438	K>M		No	ClinGen TOPMed
CA310798054 rs56370008	439	K>E		No	ClinGen Ensembl
rs1329429265 CA408000608	439	K>N		No	ClinGen TOPMed gnomAD
CA408000617 rs1377814553	440	P>A		No	ClinGen TOPMed gnomAD
CA408000612 rs1377814553	440	P>S		No	ClinGen TOPMed gnomAD
CA408000615 rs1377814553	440	P>T		No	ClinGen TOPMed gnomAD
CA408000637 rs1449083414	442	P>S		No	ClinGen gnomAD
rs1489241956 CA408000649	443	Q>*		No	ClinGen TOPMed
VAR_015509	443	Q>R		No	UniProt
CA408000667 rs1376362519	444	A>D		No	ClinGen gnomAD
rs759805287 CA9730119	444	A>S		No	ClinGen ExAC gnomAD
COSM1733697 rs1246015069 CA408000686	445	A>V	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1329853718 CA408000717	447	P>L		No	ClinGen TOPMed
CA408000712 rs1409390586	447	P>S		No	ClinGen gnomAD
CA9730122 rs763076272	448	N>D		No	ClinGen ExAC gnomAD
CA408000757 rs1165275327	450	H>D		No	ClinGen gnomAD
rs527874912 CA9730124	451	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766303171 CA9730126	454	A>V		No	ClinGen ExAC gnomAD
CA9730127 rs753660710	455	S>G		No	ClinGen ExAC TOPMed gnomAD
CA408000887 rs1472334782	459	S>T		No	ClinGen gnomAD
CA408000906 rs1168490568 VAR_015510	460	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen UniProt NCI-TCGA dbSNP gnomAD
CA9730131 rs376299386	461	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1456779931 CA408000927	462	P>S		No	ClinGen TOPMed
CA310798117 rs370724960	463	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA9730132 rs147232069	463	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9730133 rs370724960	463	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA9730135 rs377104734	464	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1464969245 CA408000976	466	D>A		No	ClinGen TOPMed
CA408000977 rs1464969245	466	D>G		No	ClinGen TOPMed
rs769969115 CA9730137	466	D>N		No	ClinGen ExAC gnomAD
rs1320556144 CA408000995	467	T>I		No	ClinGen TOPMed gnomAD
CA9730140 rs764268777	470	Y>*		No	ClinGen ExAC gnomAD
CA9730139 rs763022327	470	Y>C		No	ClinGen ExAC gnomAD
CA408001030 rs763022327	470	Y>S		No	ClinGen ExAC gnomAD
TCGA novel	471	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA310798145 rs201731716	475	M>R		No	ClinGen 1000Genomes gnomAD
CA9730143 rs766385167	475	M>V		No	ClinGen ExAC gnomAD
CA408001126 rs1600469441	477	H>P		No	ClinGen Ensembl
CA408001152 rs1194044230	479	N>D		No	ClinGen TOPMed gnomAD
rs1600469466 CA408001157	479	N>T		No	ClinGen Ensembl
rs566700469 CA9730144 COSM1410619	480	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA408001165 rs1425717852	480	R>W		No	ClinGen TOPMed gnomAD
CA408001174 rs1600469494	481	T>P		No	ClinGen Ensembl
CA9730145 RCV000958240 rs41278990	482	P>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA408001207 rs1466608520	483	K>N		No	ClinGen gnomAD
CA9730146 rs764882188	483	K>R		No	ClinGen ExAC gnomAD
CA9730147 rs752398143	484	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs555638361 CA9730148	485	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA408001228 rs1400259645	485	P>S		No	ClinGen gnomAD
rs781656196 CA9730152	486	A>D		No	ClinGen ExAC gnomAD
VAR_015511	486	A>L	requires 2 nucleotide substitutions [UniProt]	No	UniProt
CA9730151 rs751040166	486	A>S		No	ClinGen ExAC TOPMed gnomAD
CA9730150 rs751040166	486	A>T		No	ClinGen ExAC TOPMed gnomAD
rs746304594 CA9730153	487	P>A		No	ClinGen ExAC gnomAD
CA9730155 rs780245154	487	P>H		No	ClinGen ExAC TOPMed gnomAD
CA9730156 rs780245154	487	P>L		No	ClinGen ExAC TOPMed gnomAD
rs746304594 CA9730154	487	P>S		No	ClinGen ExAC gnomAD
rs367629199 CA9730157 VAR_015512	491	P>L		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
rs761977699 CA9730159	492	S>F		No	ClinGen ExAC gnomAD
CA408001313 rs1217108138	492	S>P		No	ClinGen TOPMed gnomAD
rs776719258 CA408001334	494	S>A		No	ClinGen ExAC gnomAD
rs376079666 CA9730162	494	S>L		No	ClinGen ESP ExAC gnomAD
CA9730161 rs776719258	494	S>P		No	ClinGen ExAC gnomAD
CA9730164 rs189066894	497	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762714208 CA9730165	498	S>T		No	ClinGen ExAC gnomAD
rs372228659 CA9730168	499	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs368388982 CA9730167	499	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs147758372 CA9730169	502	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs553964074 CA9730172	504	K>N		No	ClinGen 1000Genomes ExAC gnomAD

No associated diseases with P78324

8 regional properties for P78324

Type	Name	Position	InterPro Accession
domain	Immunoglobulin C1-set	161 - 238	IPR003597-1
domain	Immunoglobulin C1-set	263 - 341	IPR003597-2
domain	Immunoglobulin subtype	40 - 145	IPR003599-1
domain	Immunoglobulin subtype	258 - 350	IPR003599-2
domain	Immunoglobulin-like domain	32 - 121	IPR007110-1
domain	Immunoglobulin-like domain	148 - 247	IPR007110-2
domain	Immunoglobulin-like domain	254 - 348	IPR007110-3
domain	Immunoglobulin V-set domain	38 - 144	IPR013106

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

7 GO annotations of cellular component

Name	Definition
cell surface	The external part of the cell wall and/or plasma membrane.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
ficolin-1-rich granule membrane	The lipid bilayer surrounding a ficolin-1-rich granule.
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.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
tertiary granule membrane	The lipid bilayer surrounding a tertiary granule.

7 GO annotations of molecular function

Name	Definition
cell-cell adhesion mediator activity	The binding by a cell-adhesion protein on the cell surface to an extracellular matrix component, to mediate adhesion of the cell to another cell.
GTPase regulator activity	Binds to and modulates the activity of a GTPase.
protein antigen binding	Binding to a protein antigen.
protein binding involved in heterotypic cell-cell adhesion	Binding to a protein or protein complex contributing to the adhesion of two different types of cells.
protein phosphatase binding	Binding to a protein phosphatase.
protein tyrosine kinase binding	Binding to protein tyrosine kinase.
SH3 domain binding	Binding to a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins.

29 GO annotations of biological process

Name	Definition
cell adhesion	The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.
cell migration	The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms.
cellular response to hydrogen peroxide	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 hydrogen peroxide (H2O2) stimulus.
cellular response to interferon-gamma	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interferon-gamma stimulus. Interferon gamma is the only member of the type II interferon found so far.
cellular response to interleukin-1	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-1 stimulus.
cellular response to interleukin-12	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-12 stimulus.
cellular response to lipopolysaccharide	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 lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria.
monocyte extravasation	The migration of a monocyte from the blood vessels into the surrounding tissue.
negative regulation of chemokine (C-C motif) ligand 5 production	Any process that stops, prevents, or reduces the frequency, rate, or extent of production of chemokine (C-C motif) ligand 5.
negative regulation of cytokine production involved in inflammatory response	Any process that stops, prevents or reduces the frequency, rate or extent of cytokine production involved in inflammatory response.
negative regulation of ERK1 and ERK2 cascade	Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
negative regulation of I-kappaB phosphorylation	Any process that stops, prevents or reduces the frequency, rate or extent of I-kappaB phosphorylation.
negative regulation of inflammatory response	Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response.
negative regulation of interferon-beta production	Any process that stops, prevents, or reduces the frequency, rate, or extent of interferon-beta production.
negative regulation of interleukin-6 production	Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-6 production.
negative regulation of JNK cascade	Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the JNK cascade.
negative regulation of macrophage inflammatory protein 1 alpha production	Any process that stops, prevents, or reduces the frequency, rate, or extent of production of macrophage inflammatory protein 1 alpha.
negative regulation of nitric oxide biosynthetic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nitric oxide.
negative regulation of phagocytosis	Any process that stops, prevents, or reduces the frequency, rate or extent of phagocytosis.
negative regulation of protein phosphorylation	Any process that stops, prevents or reduces the rate of addition of phosphate groups to amino acids within a protein.
negative regulation of tumor necrosis factor production	Any process that stops, prevents, or reduces the frequency, rate, or extent of tumor necrosis factor production.
positive regulation of phagocytosis	Any process that activates or increases the frequency, rate or extent of phagocytosis.
positive regulation of T cell activation	Any process that activates or increases the frequency, rate or extent of T cell activation.
regulation of gene expression	Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
regulation of interferon-gamma production	Any process that modulates the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon.
regulation of interleukin-1 beta production	Any process that modulates the frequency, rate, or extent of interleukin-1 beta production.
regulation of interleukin-6 production	Any process that modulates the frequency, rate, or extent of interleukin-6 production.
regulation of nitric oxide biosynthetic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nitric oxide.
regulation of tumor necrosis factor production	Any process that modulates the frequency, rate or extent of tumor necrosis factor production.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9P1W8	SIRPG	Signal-regulatory protein gamma	Homo sapiens (Human)	PR
O00241	SIRPB1	Signal-regulatory protein beta-1	Homo sapiens (Human)	PR

10	20	30	40	50	60
MEPAGPAPGR	LGPLLCLLLA	ASCAWSGVAG	EEELQVIQPD	KSVLVAAGET	ATLRCTATSL
70	80	90	100	110	120
IPVGPIQWFR	GAGPGRELIY	NQKEGHFPRV	TTVSDLTKRN	NMDFSIRIGN	ITPADAGTYY
130	140	150	160	170	180
CVKFRKGSPD	DVEFKSGAGT	ELSVRAKPSA	PVVSGPAARA	TPQHTVSFTC	ESHGFSPRDI
190	200	210	220	230	240
TLKWFKNGNE	LSDFQTNVDP	VGESVSYSIH	STAKVVLTRE	DVHSQVICEV	AHVTLQGDPL
250	260	270	280	290	300
RGTANLSETI	RVPPTLEVTQ	QPVRAENQVN	VTCQVRKFYP	QRLQLTWLEN	GNVSRTETAS
310	320	330	340	350	360
TVTENKDGTY	NWMSWLLVNV	SAHRDDVKLT	CQVEHDGQPA	VSKSHDLKVS	AHPKEQGSNT
370	380	390	400	410	420
AAENTGSNER	NIYIVVGVVC	TLLVALLMAA	LYLVRIRQKK	AQGSTSSTRL	HEPEKNAREI
430	440	450	460	470	480
TQDTNDITYA	DLNLPKGKKP	APQAAEPNNH	TEYASIQTSP	QPASEDTLTY	ADLDMVHLNR
490	500
TPKQPAPKPE	PSFSEYASVQ	VPRK