AiPD: Autoinhibited Protein Database

P29074

Gene name	PTPN4
Protein name	Tyrosine-protein phosphatase non-receptor type 4
Names	Protein-tyrosine phosphatase MEG1, MEG, PTPase-MEG1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5775
EC number	3.1.3.48: Phosphoric monoester hydrolases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

345-427 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

345-427 (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

9 structures for P29074

Entry ID	Method	Resolution	Chain	Position	Source
2CS5	NMR	-	A	507-612	PDB
2I75	X-ray	245 A	A	611-926	PDB
2VPH	X-ray	190 A	A/B	513-606	PDB
3NFK	X-ray	143 A	A/B	499-604	PDB
3NFL	X-ray	191 A	A/B/C/D	499-604	PDB
5EYZ	X-ray	209 A	A/B/C/D	499-604	PDB
5EZ0	X-ray	235 A	A/B/C/D	499-604	PDB
7VZE	X-ray	288 A	A/B/C/D	513-603	PDB
AF-P29074-F1	Predicted				AlphaFoldDB

582 variants for P29074

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001293771 rs1679218434	580	D>Y	Intellectual disability [ClinVar]	Yes	ClinVar dbSNP
RCV001256105 rs1679434397	831	L>I	Autism [ClinVar]	Yes	ClinVar dbSNP
CA348187753 rs1390419226	2	T>P		No	ClinGen TOPMed gnomAD
CA1849161 rs372066860	4	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1399071 CA1849162 rs748499258	4	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA348187778 rs1366276778	6	R>*		No	ClinGen TOPMed gnomAD
rs1366276778 CA348187777	6	R>G		No	ClinGen TOPMed gnomAD
rs144223649 CA1849163	6	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs778359993 CA1849164	7	L>F		No	ClinGen ExAC gnomAD
TCGA novel	11	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1488003248 CA348187822	13	Y>C		No	ClinGen gnomAD
rs775350769 CA1849167	14	N>D		No	ClinGen ExAC
rs1249501161 CA348187831	14	N>K		No	ClinGen gnomAD
CA54430719 rs963363739	14	N>S		No	ClinGen gnomAD
rs760213839 CA1849168	15	V>I		No	ClinGen ExAC TOPMed gnomAD
CA348187838 rs1187367972	16	R>*		No	ClinGen gnomAD
rs866186886 CA54430741	16	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs146543517 CA1849169	18	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1558732859 CA348187869	21	A>S		No	ClinGen Ensembl
CA1849170 rs200544847	22	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1368451762 CA348187881	23	D>G		No	ClinGen gnomAD
CA1849171 rs146868631	24	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1466144839 CA348187902	26	H>D		No	ClinGen TOPMed
CA348187947 rs1389626690	28	E>G		No	ClinGen gnomAD
CA1849173 rs750343839	29	V>L		No	ClinGen ExAC gnomAD
rs766410710 CA1849175	32	N>D		No	ClinGen ExAC TOPMed gnomAD
CA1849176 rs751852893	32	N>T		No	ClinGen ExAC gnomAD
CA348188018 rs1313332778	33	I>V		No	ClinGen gnomAD
CA1849179 rs368669233	39	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1247625783 CA348188109	39	T>S		No	ClinGen TOPMed
CA348188117 rs923989200	41	Q>E		No	ClinGen TOPMed
CA54430881 rs923989200	41	Q>K		No	ClinGen TOPMed
CA348188127 rs1207670265	42	A>D		No	ClinGen gnomAD
rs1240011706 CA348188146	44	K>E		No	ClinGen gnomAD
CA348188160 rs1457060082	44	K>N		No	ClinGen TOPMed
rs1199991850 CA348188182	46	N>S		No	ClinGen TOPMed
rs767649368 CA1849202	47	K>N		No	ClinGen ExAC TOPMed gnomAD
CA348185208 rs1427493573	48	H>N		No	ClinGen gnomAD
CA54472374 rs756846077	50	Q>K		No	ClinGen Ensembl
rs1025735746 CA54472378	52	Q>R		No	ClinGen TOPMed
CA348185246 rs1415308829	53	V>L		No	ClinGen gnomAD
CA348185271 rs1195338131	56	D>E		No	ClinGen TOPMed
rs1268115511 CA348185266	56	D>H		No	ClinGen TOPMed
CA1849206 rs754446836	58	V>I		No	ClinGen ExAC TOPMed gnomAD
rs757862652 CA1849207	61	H>R		No	ClinGen ExAC gnomAD
rs1317528901 CA348185307	62	L>V		No	ClinGen gnomAD
rs1324562768 CA348185311	63	D>N		No	ClinGen gnomAD
rs1351098041 CA348185325	64	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1677776998 RCV001267875	64	L>W		No	ClinVar dbSNP
CA348185369 rs1401955462	70	F>Y		No	ClinGen gnomAD
rs1277603692 CA348185391	73	Q>H		No	ClinGen TOPMed gnomAD
CA1849211 rs552737169	77	D>N		No	ClinGen ExAC gnomAD
CA1849213 rs145726868	78	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1849212 rs145726868	78	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1849214 rs773010444	79	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	80	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs921771124 CA54472442	81	N>K		No	ClinGen gnomAD
CA1849228 rs754483339	88	N>D		No	ClinGen ExAC gnomAD
CA348186957 rs1452498687	91	I>V		No	ClinGen TOPMed gnomAD
CA1849243 rs769011640	97	R>K		No	ClinGen ExAC gnomAD
rs769011640 CA348187180	97	R>T		No	ClinGen ExAC gnomAD
CA348187194 rs1383869428	98	G>E		No	ClinGen gnomAD
CA348187188 rs1159371210	98	G>R		No	ClinGen TOPMed gnomAD
CA348187245 rs1331671474	102	S>N		No	ClinGen TOPMed
rs1335673424 CA348187261	103	L>W		No	ClinGen gnomAD
CA1849245 rs762333568	104	N>K		No	ClinGen ExAC gnomAD
CA348187296 rs377613337	105	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA348187367 rs1319482029	111	V>I		No	ClinGen TOPMed
CA1849248 rs763535454 CA348187403	113	D>E		No	ClinGen ExAC gnomAD
rs990394194 CA54478758	114	P>A		No	ClinGen TOPMed
CA348187411 rs1260358716	114	P>H		No	ClinGen gnomAD
CA1849249 rs766752995	115	N>S		No	ClinGen ExAC gnomAD
CA348187438 rs1413225657	116	K>R		No	ClinGen gnomAD
rs868304948 CA54478770	117	L>S		No	ClinGen Ensembl
TCGA novel	121	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749593020 CA54478777	122	T>I		No	ClinGen Ensembl
CA348187938 rs1417083204	125	Q>H		No	ClinGen TOPMed gnomAD
rs1558753665 CA348187935	125	Q>L		No	ClinGen Ensembl
TCGA novel	128	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001264843 rs1678083679	132	Q>missing		No	ClinVar dbSNP
CA1849271 rs763567024	132	Q>K		No	ClinGen ExAC gnomAD
rs753539446 CA1849272	133	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1395363594 CA348188041	133	D>G		No	ClinGen gnomAD
CA348188034 rs1356536973	133	D>N		No	ClinGen TOPMed gnomAD
CA348188038 rs1356536973	133	D>Y		No	ClinGen TOPMed gnomAD
CA348188048 rs756957077	134	I>F		No	ClinGen ExAC TOPMed gnomAD
rs756957077 CA1849273	134	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1171243349 CA348188076	137	G>R		No	ClinGen TOPMed gnomAD
COSM1527644 rs868582705 CA54481521	140	P>L	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA54481524 rs138928846	143	S>P		No	ClinGen ESP TOPMed
rs1362242851	143	S>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1294764091 CA348188208	144	N>T		No	ClinGen gnomAD
rs1439205217 CA348188214	145	T>A		No	ClinGen TOPMed
COSM1399075 rs1305735572 CA348188219	146	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	149	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1397265053 CA348188247	150	A>D		No	ClinGen TOPMed
CA1849300 rs754993659	153	A>G		No	ClinGen ExAC gnomAD
rs781205857 COSM1305594 CA1849301	155	Q>E	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA348188297 rs1327210476	155	Q>H		No	ClinGen TOPMed
TCGA novel	157	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1849312 rs775804022	158	L>H		No	ClinGen ExAC gnomAD
rs138361206 CA1849311	158	L>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	160	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	160	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348188411 rs1258369357	161	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1214438608 CA348188405	161	Y>H		No	ClinGen gnomAD
CA348188428 rs1189211915	162	D>G		No	ClinGen gnomAD
rs761451564 CA1849313	162	D>N		No	ClinGen ExAC TOPMed gnomAD
CA348188476 rs1257495310	165	E>D		No	ClinGen TOPMed gnomAD
rs1558753926 CA348188523	169	G>S		No	ClinGen Ensembl
rs772967122 CA1849315	169	G>V		No	ClinGen ExAC TOPMed gnomAD
CA348188535 rs1334786464	170	Y>C		No	ClinGen TOPMed
rs762535104 CA1849316	171	L>V		No	ClinGen ExAC gnomAD
CA348188576 rs1157203052	176	F>S		No	ClinGen gnomAD
CA54481752 rs866417024	178	P>T		No	ClinGen TOPMed
rs1403201219 CA348188602	180	Q>*		No	ClinGen gnomAD
CA348188603 rs1435440295	180	Q>P		No	ClinGen gnomAD
CA1849319 rs759343930	181	P>S		No	ClinGen ExAC gnomAD
rs1412694362 CA348188621	183	D>N		No	ClinGen gnomAD
CA348188629 rs1305393488	184	F>I		No	ClinGen gnomAD
TCGA novel	187	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348188657 rs1281124947	187	E>G		No	ClinGen TOPMed gnomAD
TCGA novel	187	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1849320 rs767623727	189	A>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	189	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA916635092 rs1574386108	192	H>L		No	ClinGen Ensembl
TCGA novel	192	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA54481761 rs1047046444	195	H>R		No	ClinGen Ensembl
CA348188714 rs1349395935	195	H>Y		No	ClinGen gnomAD
CA54483259 rs1036549163	197	G>R		No	ClinGen Ensembl
rs1420108063 CA348188830	200	P>H		No	ClinGen TOPMed
TCGA novel	204	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348188886 rs1469117245	205	F>V		No	ClinGen gnomAD
rs753868954 CA1849345	209	N>S		No	ClinGen ExAC gnomAD
rs1420192127 CA348188967	211	A>T		No	ClinGen gnomAD
rs1168130883 CA348188983	212	R>C		No	ClinGen TOPMed gnomAD
CA1849347 rs779166189	212	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs11892365 CA54483294	215	E>K		No	ClinGen Ensembl
CA1849348 rs376525667	217	Y>C		No	ClinGen ESP ExAC gnomAD
TCGA novel	217	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758809995 CA1849349	223	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA348191619 rs1361881888	227	Q>*		No	ClinGen TOPMed
rs1268870302 CA348191649	229	N>D		No	ClinGen TOPMed
rs765276909 CA1849367	229	N>S		No	ClinGen ExAC gnomAD
CA348191665 rs1445382923	230	N>S		No	ClinGen gnomAD
TCGA novel	232	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1259590189 CA348191685	233	M>V		No	ClinGen TOPMed gnomAD
TCGA novel	235	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766553005 CA1849370	237	M>I		No	ClinGen ExAC TOPMed gnomAD
rs61748154 CA1849369	237	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1678390512 RCV001264844	239	G>R		No	ClinVar dbSNP
CA348191749 rs1166683208	243	I>L		No	ClinGen TOPMed
rs1329532184 CA348191755	243	I>M		No	ClinGen gnomAD
CA1849371 rs563342367	244	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
rs866846049 CA54494538	246	N>D		No	ClinGen TOPMed
rs866846049 CA348191772	246	N>Y		No	ClinGen TOPMed
rs1398471715 CA348191788	248	V>A		No	ClinGen TOPMed gnomAD
rs531005298 CA1849372	248	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1451229797 CA348191791	249	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs760973124 CA1849373	249	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1849374 rs748637374	251	N>S		No	ClinGen ExAC gnomAD
TCGA novel	254	P>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757914515 CA1849396	258	I>T		No	ClinGen ExAC gnomAD
CA348192169 rs1411598768	258	I>V		No	ClinGen TOPMed
rs532249736 CA1849397	259	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA1849398 rs532249736	259	V>L		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	261	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1849399 rs550473525	262	S>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1453294238 CA348192229	263	F>L		No	ClinGen gnomAD
TCGA novel	263	F>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348192247 rs780994303	265	C>R		No	ClinGen ExAC TOPMed gnomAD
rs780994303 CA1849400	265	C>S		No	ClinGen ExAC TOPMed gnomAD
rs1476786053 CA348192265	266	K>R		No	ClinGen TOPMed
CA1849402 rs372225039	270	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1849401 rs372225039	270	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1849404 rs773116894	273	R>K		No	ClinGen ExAC gnomAD
rs1398572862 CA348192363	274	K>R		No	ClinGen gnomAD
CA1849429 rs772440998	277	H>Y		No	ClinGen ExAC gnomAD
CA1849430 rs775845333	279	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA1849431 rs757719225	280	R>T		No	ClinGen ExAC TOPMed gnomAD
CA1849432 rs764525857	282	T>A		No	ClinGen ExAC gnomAD
rs1164028810 CA348192634	285	G>V		No	ClinGen TOPMed
CA348192636 rs1427669653	286	F>V		No	ClinGen TOPMed
rs537200066 CA1849435	288	M>T		No	ClinGen 1000Genomes ExAC gnomAD
CA348192652 rs1558764365	288	M>V		No	ClinGen Ensembl
rs959741024 CA54509461	289	V>M		No	ClinGen TOPMed
TCGA novel	295	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs573954416 CA1849437	296	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA1849439 rs200141251 CA1849438	297	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs150595219 CA54509471	302	V>I		No	ClinGen ESP TOPMed gnomAD
rs41279780 CA1849442	306	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA1849443 rs777647220	309	R>C		No	ClinGen ExAC gnomAD
CA1849444 rs147821849	309	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA348192880 rs1308720595	311	D>G		No	ClinGen gnomAD
TCGA novel	312	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	317	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	318	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348192948 rs1292025366	318	K>R		No	ClinGen TOPMed
rs1558764410 CA348192957	319	N>S		No	ClinGen Ensembl
rs948443690 CA54509496	321	F>L		No	ClinGen TOPMed
TCGA novel	322	A>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1316959212 CA348192991	322	A>G		No	ClinGen TOPMed gnomAD
rs1316959212 CA348192992	322	A>V		No	ClinGen TOPMed gnomAD
CA1849445 rs757223538	323	H>R		No	ClinGen ExAC gnomAD
rs1046150502 CA54509503	325	F>L		No	ClinGen TOPMed gnomAD
CA348193063 rs1284495848	329	S>*		No	ClinGen gnomAD
TCGA novel	332	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1849446 rs778657472	332	R>Q		No	ClinGen ExAC gnomAD
TCGA novel	334	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs145136008 CA1849466	343	Q>R		No	ClinGen ESP ExAC gnomAD
CA348140327 rs1367847583	349	A>T		No	ClinGen TOPMed
rs1162640558 CA348140361	352	D>Y		No	ClinGen TOPMed
CA348140380 rs1425461043	353	R>K		No	ClinGen TOPMed
CA1849467 rs756993078	354	V>A		No	ClinGen ExAC gnomAD
rs1385383192 CA348140384	354	V>I		No	ClinGen TOPMed
rs1013559047 CA54306886	358	S>P		No	ClinGen TOPMed gnomAD
rs1025099723 CA54306888	359	P>L		No	ClinGen gnomAD
rs773817863 CA1849477	362	P>S		No	ClinGen ExAC TOPMed gnomAD
rs763471077 CA1849478	363	L>V		No	ClinGen ExAC gnomAD
CA1849479 rs532212706	365	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA348140763 rs1476965501	365	R>W		No	ClinGen TOPMed gnomAD
CA348140801 rs1464955991	368	M>I		No	ClinGen gnomAD
CA1849481 rs760122086	370	W>S		No	ClinGen ExAC gnomAD
CA348140849 rs1396308413	372	V>A		No	ClinGen gnomAD
TCGA novel	375	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1849482 rs149038648	376	N>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA348140905 rs757119197	378	I>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	378	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757119197 CA1849484	378	I>V		No	ClinGen ExAC TOPMed gnomAD
CA348140925 rs1341798709	380	D>N		No	ClinGen gnomAD
rs143014480 CA1849485	381	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs750197106 CA1849486	382	R>G		No	ClinGen ExAC gnomAD
rs758412802 CA1849487	382	R>M		No	ClinGen ExAC gnomAD
CA1849489 rs751743490	386	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs919531073 CA54306918	387	S>N		No	ClinGen TOPMed
CA1849490 rs755003772	387	S>R		No	ClinGen ExAC gnomAD
rs376827277 CA54306920	388	L>R		No	ClinGen ESP
CA1849491 rs781516454	390	S>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1849493 rs369667419	391	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA54306936 rs778139713 COSM364509	391	R>P	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1849494 rs778139713	391	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1849495 rs749589573	393	P>L		No	ClinGen ExAC gnomAD
CA54306940 rs866073124	393	P>S		No	ClinGen gnomAD
CA348141081 rs866073124	393	P>T		No	ClinGen gnomAD
CA1849497 rs774827115	394	P>L		No	ClinGen ExAC TOPMed gnomAD
rs771442764 CA1849496	394	P>S		No	ClinGen ExAC gnomAD
rs771641866 CA54306950	395	G>R		No	ClinGen gnomAD
rs768023889 CA1849499	397	P>S		No	ClinGen ExAC TOPMed gnomAD
rs776397158 CA1849500	398	N>D		No	ClinGen ExAC gnomAD
CA348141277 rs1442809215	400	R>*		No	ClinGen gnomAD
rs1186373089 CA348141283	400	R>L		No	ClinGen gnomAD
rs1186373089 CA348141280 COSM1005960	400	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs752780174 CA1849511	402	S>C		No	ClinGen ExAC gnomAD
CA1849512 rs756296489	403	T>A		No	ClinGen ExAC gnomAD
CA54307877 COSM304466 rs1004704242	405	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA348141355 rs1268005309	409	T>S		No	ClinGen TOPMed
rs760890553 CA54307886	410	R>Q		No	ClinGen TOPMed gnomAD
CA1849515 rs771281366	410	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1332438767 COSM202468 CA348141368	412	R>*	large_intestine Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs746341802 CA348141369	412	R>P		No	ClinGen ExAC TOPMed gnomAD
rs746341802 CA1849517	412	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA54307898 rs963098468	413	P>L		No	ClinGen Ensembl
rs971334771 CA54307902	415	S>L		No	ClinGen TOPMed
rs776038861 CA1849519	416	V>F		No	ClinGen ExAC gnomAD
CA1849520 rs761326684	417	G>D		No	ClinGen ExAC TOPMed gnomAD
CA1849521 rs761326684	417	G>V		No	ClinGen ExAC TOPMed gnomAD
CA1849522 rs772990927	420	V>L		No	ClinGen ExAC gnomAD
rs762877130 CA1849524	421	D>E		No	ClinGen ExAC gnomAD
CA348141416 rs1282445576	421	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1849525 rs377080528	423	M>T		No	ClinGen ESP ExAC gnomAD
CA348141432 rs1199729994	423	M>V		No	ClinGen gnomAD
CA54307913 rs974295810	424	V>F		No	ClinGen Ensembl
rs1439130502 CA348141451	425	H>Q		No	ClinGen TOPMed gnomAD
CA348141457 rs1178867036	426	T>I		No	ClinGen gnomAD
CA348141462 rs1437334343	427	S>F		No	ClinGen gnomAD
rs759422475 CA1849526	427	S>P		No	ClinGen ExAC TOPMed gnomAD
CA1849527 rs767420003	428	P>Q		No	ClinGen ExAC gnomAD
TCGA novel	428	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1849529 rs140214166	430	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA348141476 rs140214166	430	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764368118 CA1849530	433	V>I		No	ClinGen ExAC gnomAD
CA1849532 rs537528513	438	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs556263959 CA1849533	438	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs537528513 CA1849531	438	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs780595024 CA1849536	441	T>I		No	ClinGen ExAC gnomAD
CA1849537 rs76063791	443	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA348141561 rs1424702069	443	A>V		No	ClinGen TOPMed
CA1849538 rs148702176	444	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA348141576 rs1419808499	445	S>N		No	ClinGen TOPMed gnomAD
CA1849540 rs748970738	448	L>Q		No	ClinGen ExAC gnomAD
rs1357082045 CA348141593	448	L>V		No	ClinGen gnomAD
rs1574411614 CA348141612	451	S>*		No	ClinGen Ensembl
rs774019932 CA1849542	451	S>P		No	ClinGen ExAC gnomAD
CA1849544 rs201220961	452	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759319749 CA1849543	452	P>S		No	ClinGen ExAC TOPMed gnomAD
rs771869265 CA1849562	455	E>D		No	ClinGen ExAC gnomAD
rs745718718 CA1849561	455	E>G		No	ClinGen ExAC gnomAD
CA348142253 rs775342020	456	T>I		No	ClinGen ExAC TOPMed gnomAD
rs775342020 CA1849563	456	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1574415740 CA348142288	459	D>E		No	ClinGen Ensembl
CA348142286 rs1311414420	459	D>V		No	ClinGen gnomAD
CA54314264 rs887905682	460	G>E		No	ClinGen gnomAD
rs187924172 CA348142316	461	K>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1380948255 CA348142311	461	K>R		No	ClinGen TOPMed
TCGA novel	462	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM3836689 rs776699595 CA1849567	468	K>T	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs991118124 CA54314301	469	Q>R		No	ClinGen TOPMed
rs1362447574 CA348142427	470	S>L		No	ClinGen gnomAD
rs759803038 CA54314329	471	K>E		No	ClinGen Ensembl
rs1199959520 CA348142469	473	N>S		No	ClinGen gnomAD
rs1297281417 CA348142530	476	N>S		No	ClinGen TOPMed gnomAD
CA348142538 rs1338185043	477	Q>E		No	ClinGen TOPMed gnomAD
CA54314334 rs202139992	479	H>D		No	ClinGen 1000Genomes
COSM257831 rs370792318 CA1849571	483	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs750623766 CA1849570	483	S>P		No	ClinGen ExAC gnomAD
rs1263003828 CA348142714	486	D>N		No	ClinGen gnomAD
rs1263003828 CA348142716	486	D>Y		No	ClinGen gnomAD
CA348142756 rs1488870246	488	E>G		No	ClinGen TOPMed gnomAD
rs755544755 CA1849574	490	H>R		No	ClinGen ExAC gnomAD
CA348142819 rs1486869036	491	I>N		No	ClinGen gnomAD
rs781740818 CA1849575	491	I>V		No	ClinGen ExAC gnomAD
CA1849576 rs753457428	493	E>G		No	ClinGen ExAC TOPMed gnomAD
CA1849578 rs778471048	495	F>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA54314398 rs778471048	495	F>S		No	ClinGen ExAC TOPMed gnomAD
CA1849577 rs368643655	495	F>V		No	ClinGen ESP ExAC gnomAD
rs1161311117 CA348142915	496	D>H		No	ClinGen TOPMed gnomAD
CA348142956 rs1260948009	498	P>S		No	ClinGen TOPMed
rs548907312 CA54314412	499	S>F		No	ClinGen 1000Genomes
rs139506762 CA1849580	499	S>P		No	ClinGen ESP ExAC
CA54314419 rs1023895814	501	P>S		No	ClinGen gnomAD
rs1420191465 CA348143006	502	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs371379611 CA1849581	504	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1849582 rs779935545	505	T>A		No	ClinGen ExAC TOPMed gnomAD
CA348143201 rs1358361526	507	N>D		No	ClinGen TOPMed gnomAD
rs756766251 CA1849597	508	G>D		No	ClinGen ExAC gnomAD
rs1376963712 CA348143273	511	P>L		No	ClinGen gnomAD
CA1849598 rs778508595	513	D>E		No	ClinGen ExAC TOPMed gnomAD
CA1849599 rs749865306	514	N>T		No	ClinGen ExAC TOPMed gnomAD
rs779518632 CA1849601	516	V>A		No	ClinGen ExAC gnomAD
rs758076387 CA1849600	516	V>I		No	ClinGen ExAC gnomAD
CA1849603 rs768406498	519	R>K		No	ClinGen ExAC gnomAD
CA1849604 rs781151655	520	M>I		No	ClinGen ExAC gnomAD
rs145459258 CA1849605	521	K>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs769577683 CA1849606	522	P>A		No	ClinGen ExAC gnomAD
rs371328492 CA54315424	524	E>A		No	ClinGen ESP TOPMed gnomAD
CA348143510 rs371328492	524	E>G		No	ClinGen ESP TOPMed gnomAD
CA348143541 rs1443731535	526	G>E		No	ClinGen TOPMed
rs1159003663 CA348143533	526	G>R		No	ClinGen TOPMed
CA1849607 rs376886841	527	R>K		No	ClinGen ESP ExAC gnomAD
CA348143579 rs1478928179	531	N>T		No	ClinGen gnomAD
rs1424144588 CA348143587	532	V>E		No	ClinGen gnomAD
rs1357655871 CA348143616	535	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA348143688 rs1246093225	542	V>M		No	ClinGen gnomAD
rs1487379308 CA348143706	543	I>T		No	ClinGen gnomAD
rs1444315120 CA348143721	544	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1246147420 CA348143735	546	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	546	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348143754 rs1325999091	548	A>T		No	ClinGen TOPMed
CA1849643 rs776968615	557	V>I		No	ClinGen ExAC gnomAD
rs762569057 CA1849644	559	R>K		No	ClinGen ExAC gnomAD
TCGA novel	565	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369570605 CA54319479	565	Q>R		No	ClinGen ESP gnomAD
CA348144870 rs1280493851	567	V>I		No	ClinGen gnomAD
TCGA novel	567	V>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1849645 rs765894843	568	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1186435376 CA348144903	569	I>V		No	ClinGen gnomAD
rs1240670057 CA348144949	570	N>S		No	ClinGen gnomAD
CA348144993 rs1441053985	571	G>D		No	ClinGen gnomAD
TCGA novel	571	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200942412 CA1849646	572	R>Q	Variant assessed as Somatic; 9.245e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA348145005 rs1179779195	572	R>W		No	ClinGen gnomAD
TCGA novel	573	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348145014 rs1452061874	573	D>N		No	ClinGen gnomAD
CA54319496 rs997921537	578	T>S		No	ClinGen TOPMed
rs754628156 CA1849647	581	Q>H		No	ClinGen ExAC gnomAD
CA348145293 rs1422492111	582	V>A		No	ClinGen gnomAD
rs1172585773 CA348145269	582	V>I		No	ClinGen gnomAD
CA54319513 rs1016751222	583	V>L		No	ClinGen TOPMed gnomAD
CA1849648 rs767097798	585	F>L		No	ClinGen ExAC gnomAD
rs954252695 CA54319559	586	I>V		No	ClinGen TOPMed
CA54319577 rs1005675798	590	C>R		No	ClinGen TOPMed
CA1849649 rs752596022	590	C>Y		No	ClinGen ExAC gnomAD
rs1017065436 CA54319601	591	E>K		No	ClinGen TOPMed
rs549949257 CA1849650	592	R>T		No	ClinGen 1000Genomes ExAC gnomAD
CA1849651 rs777806640	593	H>R		No	ClinGen ExAC gnomAD
CA348145626 rs1236794686	595	G>A		No	ClinGen gnomAD
rs1375991041 CA348145617	595	G>R		No	ClinGen gnomAD
rs961941528 CA54319626	596	E>K		No	ClinGen TOPMed
rs202239321 CA1849652	598	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	599	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348145754 rs1345475710	602	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1849653 rs757214548	602	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs779167115 CA1849654	603	P>T		No	ClinGen ExAC gnomAD
rs1197644028 CA348146659	605	A>V		No	ClinGen gnomAD
CA348146662 CA1849679 rs778940180	606	V>L		No	ClinGen ExAC gnomAD
CA348146677 rs1478246112	607	Y>C		No	ClinGen gnomAD
CA1849680 rs750591561	608	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1371380210 CA348146700	609	V>I		No	ClinGen gnomAD
CA1849682 rs780369887	615	E>G		No	ClinGen ExAC gnomAD
rs1391435381 CA348146815	616	N>D		No	ClinGen TOPMed gnomAD
rs1391435381 CA348146813	616	N>Y		No	ClinGen TOPMed gnomAD
CA348146833 rs1404270687	617	E>Q		No	ClinGen TOPMed gnomAD
CA348146849 rs1300989824	618	P>S		No	ClinGen gnomAD
rs1356119670 CA348146938	621	Q>H		No	ClinGen gnomAD
CA348146943 rs1208393090	622	Y>D		No	ClinGen gnomAD
rs1292650610 CA348146995	624	P>L		No	ClinGen TOPMed gnomAD
TCGA novel	624	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs575098172 CA1849684	627	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA54322049 rs774881348	627	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	628	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348147095 rs1415465298	630	D>V		No	ClinGen TOPMed
rs1422412717 CA348147089	630	D>Y		No	ClinGen TOPMed
TCGA novel	635	D>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1164263661 CA348147200	636	D>E		No	ClinGen TOPMed
rs748452620 CA1849686	636	D>N		No	ClinGen ExAC gnomAD
CA54322068 rs200619269	637	H>D		No	ClinGen Ensembl
rs1265532303 CA348147237	638	S>A		No	ClinGen gnomAD
CA348147241 rs1475283268	638	S>F		No	ClinGen TOPMed
CA1849688 rs141362505	640	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs770341394 CA1849687	640	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1849689 rs759085979	643	M>L		No	ClinGen ExAC TOPMed gnomAD
CA348147332 rs1193172575	645	Q>E		No	ClinGen gnomAD
rs771549233 CA1849690	645	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA1849692 rs143331305	647	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA348147409 rs1453580804	649	G>R		No	ClinGen TOPMed
CA1849694 rs753591690	652	T>I		No	ClinGen ExAC gnomAD
CA348147497 rs1290854773	655	V>D		No	ClinGen TOPMed
rs750358634 CA1849697	657	T>K		No	ClinGen ExAC gnomAD
CA1849698 rs758359185	658	Q>K		No	ClinGen ExAC gnomAD
CA348147669 rs1305257500	661	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA348147666 rs1305257500	661	Q>K		No	ClinGen gnomAD
rs1211049350 CA348147693	663	Y>F		No	ClinGen gnomAD
CA1849725 rs767671929	664	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1849724 rs755078384	664	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA348147733 rs1558774640	667	P>S		No	ClinGen Ensembl
CA348147748 rs1574420760	668	G>E		No	ClinGen Ensembl
TCGA novel	668	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348148226 rs1238875051	670	T>S		No	ClinGen gnomAD
rs756280659 CA1849727	671	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1402133679 CA348148255	672	S>F		No	ClinGen gnomAD
CA1849729 rs143794214	673	C>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1849728 rs143794214	673	C>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199504631 CA1849730	674	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs779465094 CA54323407	675	K>I		No	ClinGen ExAC TOPMed gnomAD
CA54323396 rs1001828605	675	K>Q		No	ClinGen Ensembl
rs779465094 CA1849731	675	K>R		No	ClinGen ExAC TOPMed gnomAD
rs578047872 CA1849732	677	P>S		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	678	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1849734 rs147435594	680	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1849733 rs768185057	680	I>V		No	ClinGen ExAC gnomAD
rs747829867 CA1849735	681	S>Y		No	ClinGen ExAC gnomAD
rs1442051102 CA348148400	683	N>H		No	ClinGen gnomAD
TCGA novel	683	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	685	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769500146 CA1849736	687	D>G		No	ClinGen ExAC gnomAD
rs960282013 CA54323421	688	I>T		No	ClinGen Ensembl
CA348148474 rs1574420804	688	I>V		No	ClinGen Ensembl
CA1849737 COSM3425151 rs143662385	689	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1024619796	690	P>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	690	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs925177702 CA54323497	691	Y>C		No	ClinGen Ensembl
CA1849749 rs764243664	692	D>H		No	ClinGen ExAC gnomAD
rs757638879 CA1849751	695	R>W		No	ClinGen ExAC gnomAD
rs1437818013 CA348148583	700	G>S		No	ClinGen gnomAD
CA1849753 COSM202471 rs779332065	707	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs758786921 CA1849755	710	I>V		No	ClinGen ExAC TOPMed gnomAD
CA348148669 rs1558774729	711	N>K		No	ClinGen Ensembl
TCGA novel	716	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	718	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1213243959 CA348148801	719	I>V		No	ClinGen gnomAD
rs750854397 CA1849791	720	I>T		No	ClinGen ExAC gnomAD
CA1849790 rs765314185	720	I>V		No	ClinGen ExAC gnomAD
rs763403760 CA1849792	724	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	726	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	733	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1399124875 CA348148936	734	C>F		No	ClinGen gnomAD
rs763728268 CA1849796	735	T>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	738	W>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM475851 CA1849797 rs753221021	745	G>S	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1242269386 CA348149039	748	M>I		No	ClinGen gnomAD
CA1849798 rs756948809	748	M>T		No	ClinGen ExAC gnomAD
CA348149035 rs1313028128	748	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1279872704 CA348149042	749	V>I		No	ClinGen gnomAD
CA348149058 rs1337248548	751	M>T		No	ClinGen TOPMed
rs1221689715 CA348149077	754	T>A		No	ClinGen gnomAD
CA1849800 rs745743917	757	E>Q		No	ClinGen ExAC gnomAD
CA1849801 rs370860064	758	R>C		No	ClinGen ExAC TOPMed gnomAD
CA1849802 rs141412806	758	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA54327206 rs755456644	763	C>S		No	ClinGen gnomAD
rs1196855196 CA348149195	768	P>L		No	ClinGen gnomAD
rs1239819383 CA348149193	768	P>S		No	ClinGen gnomAD
rs1489949489 CA348149206	770	P>A		No	ClinGen TOPMed
TCGA novel	770	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369578318 CA348149211	771	T>P		No	ClinGen ESP ExAC gnomAD
CA1849813 rs369578318	771	T>S		No	ClinGen ESP ExAC gnomAD
CA348149217 rs1294633141	772	G>R		No	ClinGen TOPMed
CA348149216 rs1294633141	772	G>S		No	ClinGen TOPMed
CA54327242 rs200109830	773	S>G		No	ClinGen 1000Genomes
rs1338891696 CA348149226	773	S>I		No	ClinGen TOPMed
rs760125201 CA1849814	774	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA348149245 rs1480205687	776	Y>C		No	ClinGen gnomAD
CA348149273 rs1574423366	780	Q>P		No	ClinGen Ensembl
rs1574423368 CA348149283	781	V>G		No	ClinGen Ensembl
rs756718985 CA1849817	782	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs753446666 CA1849816	782	T>P		No	ClinGen ExAC gnomAD
rs1574423378 CA348149301	784	H>P		No	ClinGen Ensembl
rs1249688150 CA348149341	790	T>A		No	ClinGen TOPMed
CA348149345 rs1389607037	790	T>S		No	ClinGen gnomAD
rs1574423395 CA348149353	792	Y>H		No	ClinGen Ensembl
rs746743900 CA1849822	793	I>M		No	ClinGen ExAC gnomAD
CA1849821 rs779859226	793	I>V		No	ClinGen ExAC gnomAD
rs754962291 CA1849823	796	K>R		No	ClinGen ExAC gnomAD
CA1849845 rs778030929	806	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA348150239 rs1453978194	807	S>R		No	ClinGen gnomAD
rs1288454140 CA348150238	807	S>T		No	ClinGen TOPMed
rs1679433867 RCV001265121	808	R>H		No	ClinVar dbSNP
CA348150370 rs1287968345 COSM569643	816	I>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1382137499 CA348150421	819	P>A		No	ClinGen gnomAD
rs771327878 CA1849847	825	D>A		No	ClinGen ExAC gnomAD
rs1558777138 CA348150510	825	D>E		No	ClinGen Ensembl
CA348150497 rs749332849	825	D>N		No	ClinGen ExAC gnomAD
CA1849846 rs749332849	825	D>Y		No	ClinGen ExAC gnomAD
rs779244973 COSM177862 CA1849848	827	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1317947391 CA348150628	832	D>Y		No	ClinGen gnomAD
CA348150723 rs1403136551	836	H>R		No	ClinGen gnomAD
rs1272315603 CA348150738	837	V>A		No	ClinGen TOPMed
CA348150743 COSM1243538 rs1259252500 RCV001265216	838	R>*	oesophagus [Cosmic]	No	ClinGen cosmic curated ClinVar dbSNP gnomAD
CA1849852 rs761088036	838	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA348150786 rs1242643805	840	K>R		No	ClinGen gnomAD
CA1849854 rs772727383	841	R>W		No	ClinGen ExAC gnomAD
CA348150814 rs1181729519	843	G>S		No	ClinGen gnomAD
CA1849855 rs1553479032	844	K>R		No	ClinGen Ensembl
rs536503892 CA1849858	848	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	850	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1849879 rs767149976	856	I>V		No	ClinGen ExAC gnomAD
CA1849881 rs760486727 COSM569642	857	G>R	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	861	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1849883 rs753812360	865	M>I		No	ClinGen ExAC gnomAD
CA54331044 rs973537316	865	M>V		No	ClinGen Ensembl
CA348151101 rs1459065593	866	E>*		No	ClinGen gnomAD
rs868292380 CA54331046	867	T>K		No	ClinGen Ensembl
CA1849884 rs192018322	868	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1325199366 CA348151124	869	M>I		No	ClinGen TOPMed
rs920873347 CA54331065	869	M>V		No	ClinGen gnomAD
rs1177687179 CA348151135	871	L>F		No	ClinGen gnomAD
CA1849885 COSM441055 rs765409271	875	N>S	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1266522960 CA348151206	881	L>P		No	ClinGen gnomAD
CA1849888 rs780296553	884	V>I		No	ClinGen ExAC TOPMed gnomAD
rs780296553 CA348151224	884	V>L		No	ClinGen ExAC TOPMed gnomAD
rs747402688 CA1849889	887	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1474887195 CA348151259	889	D>G		No	ClinGen TOPMed
rs755326081 CA1849890	889	D>N		No	ClinGen ExAC
rs1267809634 CA348151263	890	Q>K		No	ClinGen gnomAD
CA1849891 rs781481871	890	Q>R		No	ClinGen ExAC gnomAD
rs748661130 CA348151270	891	R>*		No	ClinGen ExAC gnomAD
rs748661130 CA1849892	891	R>G		No	ClinGen ExAC gnomAD
CA1849893 rs770247266	891	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs773756415 CA1849895	898	P>A		No	ClinGen ExAC TOPMed gnomAD
rs773756415 CA1849894	898	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	899	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA54338035 rs373904182	901	Y>F		No	ClinGen ESP TOPMed
TCGA novel	903	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773192152 CA1849922	904	V>I		No	ClinGen ExAC gnomAD
rs1261871805 CA348153289	906	E>K		No	ClinGen TOPMed
rs762745195 CA1849923	907	A>T		No	ClinGen ExAC TOPMed gnomAD
rs766487889 CA1849924	912	Y>F		No	ClinGen ExAC gnomAD
COSM1399082 CA348153377 rs1446077183	913	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA348153391 rs1487806895	914	E>K		No	ClinGen TOPMed
CA1849926 rs751556232	915	G>D		No	ClinGen ExAC gnomAD
CA348153407 rs1443624054	915	G>S		No	ClinGen gnomAD
CA1849925 rs751556232	915	G>V		No	ClinGen ExAC gnomAD
rs1244475875 CA348153420	916	F>L		No	ClinGen gnomAD
rs1267568210 CA348153442	917	V>D		No	ClinGen TOPMed
CA348153458 rs1223689894	919	P>T		No	ClinGen TOPMed
CA348153492 rs1183571379	921	T>R		No	ClinGen gnomAD
rs1471400688 CA348153517	923	S>T		No	ClinGen gnomAD
CA54338055 rs3189128	924	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_061033 rs3189128 CA1849928	924	T>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs756466453 CA1849929	926	K>*		No	ClinGen ExAC TOPMed gnomAD
rs756466453 CA348153553	926	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1399180059 CA348153555	926	K>T		No	ClinGen gnomAD
rs1178629744 CA348153562	927	K>K		No	ClinGen gnomAD

No associated diseases with P29074

14 regional properties for P29074

Type	Name	Position	InterPro Accession
domain	Tyrosine-specific protein phosphatase, PTPase domain	654 - 913	IPR000242
domain	FERM domain	29 - 312	IPR000299
domain	Tyrosine-specific protein phosphatases domain	828 - 902	IPR000387
domain	PDZ domain	517 - 605	IPR001478
domain	Protein-tyrosine phosphatase, catalytic	809 - 910	IPR003595
domain	FERM adjacent	322 - 368	IPR014847
active_site	Protein-tyrosine phosphatase, active site	850 - 860	IPR016130
domain	FERM, N-terminal	33 - 96	IPR018979
domain	FERM, C-terminal PH-like domain	226 - 316	IPR018980
conserved_site	FERM conserved site	84 - 113	IPR019747-1
conserved_site	FERM conserved site	192 - 221	IPR019747-2
domain	FERM central domain	114 - 222	IPR019748
domain	Band 4.1 domain	25 - 222	IPR019749
domain	PTPN3/4, FERM domain C-lobe	216 - 310	IPR041783

Functions

		Description
EC Number	3.1.3.48	Phosphoric monoester hydrolases
Subcellular Localization	Cell membrane ; Peripheral membrane protein ; Cytoplasmic side Cytoplasm, cytoskeleton Cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoplasmic side of plasma membrane	The leaflet the plasma membrane that faces the cytoplasm and any proteins embedded or anchored in it or attached to its surface.
cytoskeleton	A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.

4 GO annotations of molecular function

Name	Definition
cytoskeletal protein binding	Binding to a protein component of a cytoskeleton (actin, microtubule, or intermediate filament cytoskeleton).
glutamate receptor binding	Binding to a glutamate receptor.
non-membrane spanning protein tyrosine phosphatase activity	Catalysis of the reaction: non-membrane spanning protein tyrosine phosphate + H2O = non-membrane spanning protein tyrosine + phosphate.
protein tyrosine phosphatase activity	Catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate.

2 GO annotations of biological process

Name	Definition
peptidyl-tyrosine phosphorylation	The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine.
protein dephosphorylation	The process of removing one or more phosphoric residues from a protein.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q15678	PTPN14	Tyrosine-protein phosphatase non-receptor type 14	Homo sapiens (Human)	PR
P26045	PTPN3	Tyrosine-protein phosphatase non-receptor type 3	Homo sapiens (Human)	PR
Q9WU22	Ptpn4	Tyrosine-protein phosphatase non-receptor type 4	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MTSRFRLPAG	RTYNVRASEL	ARDRQHTEVV	CNILLLDNTV	QAFKVNKHDQ	GQVLLDVVFK
70	80	90	100	110	120
HLDLTEQDYF	GLQLADDSTD	NPRWLDPNKP	IRKQLKRGSP	YSLNFRVKFF	VSDPNKLQEE
130	140	150	160	170	180
YTRYQYFLQI	KQDILTGRLP	CPSNTAALLA	SFAVQSELGD	YDQSENLSGY	LSDYSFIPNQ
190	200	210	220	230	240
PQDFEKEIAK	LHQQHIGLSP	AEAEFNYLNT	ARTLELYGVE	FHYARDQSNN	EIMIGVMSGG
250	260	270	280	290	300
ILIYKNRVRM	NTFPWLKIVK	ISFKCKQFFI	QLRKELHESR	ETLLGFNMVN	YRACKNLWKA
310	320	330	340	350	360
CVEHHTFFRL	DRPLPPQKNF	FAHYFTLGSK	FRYCGRTEVQ	SVQYGKEKAN	KDRVFARSPS
370	380	390	400	410	420
KPLARKLMDW	EVVSRNSISD	DRLETQSLPS	RSPPGTPNHR	NSTFTQEGTR	LRPSSVGHLV
430	440	450	460	470	480
DHMVHTSPSE	VFVNQRSPSS	TQANSIVLES	SPSQETPGDG	KPPALPPKQS	KKNSWNQIHY
490	500	510	520	530	540
SHSQQDLESH	INETFDIPSS	PEKPTPNGGI	PHDNLVLIRM	KPDENGRFGF	NVKGGYDQKM
550	560	570	580	590	600
PVIVSRVAPG	TPADLCVPRL	NEGDQVVLIN	GRDIAEHTHD	QVVLFIKASC	ERHSGELMLL
610	620	630	640	650	660
VRPNAVYDVV	EEKLENEPDF	QYIPEKAPLD	SVHQDDHSLR	ESMIQLAEGL	ITGTVLTQFD
670	680	690	700	710	720
QLYRKKPGMT	MSCAKLPQNI	SKNRYRDISP	YDATRVILKG	NEDYINANYI	NMEIPSSSII
730	740	750	760	770	780
NQYIACQGPL	PHTCTDFWQM	TWEQGSSMVV	MLTTQVERGR	VKCHQYWPEP	TGSSSYGCYQ
790	800	810	820	830	840
VTCHSEEGNT	AYIFRKMTLF	NQEKNESRPL	TQIQYIAWPD	HGVPDDSSDF	LDFVCHVRNK
850	860	870	880	890	900
RAGKEEPVVV	HCSAGIGRTG	VLITMETAMC	LIECNQPVYP	LDIVRTMRDQ	RAMMIQTPSQ
910	920
YRFVCEAILK	VYEEGFVKPL	TTSTNK