AiPD: Autoinhibited Protein Database

P16591

Gene name	FER (TYK3)
Protein name	Tyrosine-protein kinase Fer
Names	Feline encephalitis virus-related kinase FER, Fujinami poultry sarcoma/Feline sarcoma-related protein Fer, Proto-oncogene c-Fer, Tyrosine kinase 3, p94-Fer
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2241
EC number	2.7.10.2: Protein-tyrosine kinases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

9-89 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

9-89 (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

3 structures for P16591

Entry ID	Method	Resolution	Chain	Position	Source
2KK6	NMR	-	A	453-557	PDB
6KC4	X-ray	137 A	A/C/E/G/I/K	453-552	PDB
AF-P16591-F1	Predicted				AlphaFoldDB

582 variants for P16591

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA124910040 rs758055737	4	G>A		No	ClinGen TOPMed gnomAD
CA3361859 rs762689535	11	H>R		No	ClinGen ExAC TOPMed gnomAD
CA360672890 rs1212145509	11	H>Y		No	ClinGen gnomAD
CA3361861 rs751077094	14	V>A		No	ClinGen ExAC TOPMed gnomAD
CA3361862 rs757132456	15	L>V		No	ClinGen ExAC gnomAD
CA3361863 rs781096339	18	Q>K		No	ClinGen ExAC gnomAD
CA3361866 rs199698325	23	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3361865 rs147858956	23	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1394957370 CA360672999	27	T>A		No	ClinGen TOPMed
CA3361868 rs142838306	32	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1375039575 CA360673042	33	A>P		No	ClinGen TOPMed
CA360673051 rs1474534788	34	L>R		No	ClinGen gnomAD
rs777941768 CA3361869	36	I>V		No	ClinGen ExAC gnomAD
CA124910075 rs900854674	38	S>G		No	ClinGen TOPMed gnomAD
rs1479345596 CA360673096	39	D>N		No	ClinGen TOPMed
CA3361870 rs747071972	40	K>E		No	ClinGen ExAC
CA3361871 rs771199420	40	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	40	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1200066541 CA360673121	41	E>K		No	ClinGen TOPMed
rs1350077383 CA360673154	43	A>S		No	ClinGen gnomAD
rs746165330 COSM161042 CA124910088	44	S>C	NS [Cosmic]	No	ClinGen cosmic curated Ensembl
CA3361873 rs760139281	45	T>A		No	ClinGen ExAC gnomAD
CA124910096 rs1049496902	49	L>I		No	ClinGen TOPMed gnomAD
CA3361874 rs770006209	50	C>Y		No	ClinGen ExAC gnomAD
CA3361875 rs540351672	51	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762526676 CA3361876	53	V>A		No	ClinGen ExAC TOPMed gnomAD
CA360673282 rs1580598483	54	D>G		No	ClinGen Ensembl
CA360673290 rs1446790956	55	K>E		No	ClinGen gnomAD
rs763754217 CA3361877 COSM98896	57	S>G	stomach [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3361878 rs751275308	57	S>N		No	ClinGen ExAC TOPMed gnomAD
CA3361879 rs761311669	57	S>R		No	ClinGen ExAC gnomAD
CA360673319 rs751275308	57	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1006902029 CA124910117	58	T>A		No	ClinGen Ensembl
TCGA novel	61	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360673359 rs1464475139	61	M>V		No	ClinGen gnomAD
rs756105876 CA3361882	62	N>S		No	ClinGen ExAC gnomAD
rs1580598821 CA360673406	64	V>D		No	ClinGen Ensembl
CA124910139 rs371972203	66	N>S		No	ClinGen ESP TOPMed gnomAD
rs376919194 CA3361886	67	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs747273932 CA3361887	68	S>C		No	ClinGen ExAC TOPMed
rs754788553 CA3361915	70	S>C		No	ClinGen ExAC TOPMed gnomAD
rs754788553 CA360675228	70	S>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	71	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360675241 rs1171846724	71	W>L		No	ClinGen TOPMed gnomAD
rs1171699625 CA360675254	72	L>P		No	ClinGen TOPMed
TCGA novel	73	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1580773943 CA360675273	74	M>L		No	ClinGen Ensembl
rs1561484061 CA360675278	74	M>T		No	ClinGen Ensembl
CA360675348 rs1250670524	79	E>G		No	ClinGen TOPMed gnomAD
rs1250670524 CA360675349	79	E>V		No	ClinGen TOPMed gnomAD
CA360675353 rs1291187160	80	Q>K		No	ClinGen gnomAD
CA3361920 rs781068594	81	L>F		No	ClinGen ExAC gnomAD
CA124918141 rs1052451042	81	L>R		No	ClinGen TOPMed
CA3361919 rs781068594	81	L>V		No	ClinGen ExAC gnomAD
TCGA novel	82	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360675368 rs1231987775	82	S>T		No	ClinGen TOPMed
rs756208627 CA3361921	87	T>I		No	ClinGen ExAC gnomAD
CA3361922 rs780609163	88	H>N		No	ClinGen ExAC gnomAD
CA360675409 rs1348390935	88	H>P		No	ClinGen gnomAD
CA360675414 rs1484251052 COSM1059372	89	A>T	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA360675424 rs1298797546	90	E>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA360675448 rs1408534354	93	N>S		No	ClinGen gnomAD
rs1295663411 CA360675451	94	S>T		No	ClinGen gnomAD
COSM1495877 rs377413281 CA124918155	98	H>N	kidney [Cosmic]	No	ClinGen cosmic curated Ensembl
CA360675488 rs1361149368	99	R>S		No	ClinGen Ensembl
rs771766951 CA3361927	101	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3361928 rs772795359	102	M>T		No	ClinGen ExAC TOPMed gnomAD
CA360675502 rs1561484337	102	M>V		No	ClinGen Ensembl
CA124918167 rs942479045	103	M>I		No	ClinGen TOPMed
CA360675517 rs1282627288	104	I>L		No	ClinGen TOPMed
rs1222160304 CA360675528	105	K>R		No	ClinGen TOPMed
CA3361929 rs200116493	106	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA360675554 rs1202864653	108	Q>H		No	ClinGen gnomAD
rs1482444077 CA360675551	108	Q>R		No	ClinGen gnomAD
rs1280362585 CA360675560	109	Q>L		No	ClinGen TOPMed
CA124918173 rs113090262	110	V>A		No	ClinGen Ensembl
rs898696047 CA124918176	112	K>E		No	ClinGen Ensembl
rs765846964 CA3361930	113	S>I		No	ClinGen ExAC gnomAD
CA3361932 rs759569028	115	I>V		No	ClinGen ExAC
CA124918188 rs1026316854	116	G>R		No	ClinGen gnomAD
rs1026316854 CA360675604	116	G>S		No	ClinGen gnomAD
CA124918191 rs767261061	117	V>A		No	ClinGen Ensembl
TCGA novel	119	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360675622 rs1411419548	119	Q>K		No	ClinGen gnomAD
rs533871351 CA3361933	121	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
TCGA novel	122	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360675657 rs1427923023	123	A>V		No	ClinGen gnomAD
rs1310838997 CA360675661	124	E>A		No	ClinGen TOPMed
CA3361936 rs767769442	124	E>D		No	ClinGen ExAC TOPMed gnomAD
CA360675668 rs1376630639	125	M>K		No	ClinGen TOPMed gnomAD
CA360675675 rs1580774900	126	I>V		No	ClinGen Ensembl
CA3361948 rs35150210 VAR_041691	128	V>F		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA360676013 rs1305408133	129	T>A		No	ClinGen TOPMed
TCGA novel	130	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3361950 rs769868034	130	K>R		No	ClinGen ExAC TOPMed gnomAD
CA3361951 rs775628394	132	E>Q		No	ClinGen ExAC gnomAD
CA3361953 rs763837820	134	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA360676085 rs1405560340	139	S>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1276437635 CA360676095	140	Y>C		No	ClinGen gnomAD
rs1431368537 CA360676124	144	I>R		No	ClinGen TOPMed
TCGA novel	146	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3361956 rs766375877	148	N>S		No	ClinGen ExAC gnomAD
rs1015026929 CA124919110	149	S>F		No	ClinGen Ensembl
CA360676160 rs1156817720	149	S>P		No	ClinGen TOPMed
CA124919117 rs981925982	151	K>T		No	ClinGen Ensembl
rs937936489 CA124919124	154	Y>F		No	ClinGen Ensembl
rs753184157 CA3361960	159	A>G		No	ClinGen ExAC gnomAD
CA360676238 rs1410839404	160	K>R		No	ClinGen gnomAD
rs755666246 CA3361993	163	E>D		No	ClinGen ExAC gnomAD
CA360678842 rs1416567618	163	E>G		No	ClinGen gnomAD
CA3361994 rs779457428	164	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1364322886 CA360678867	167	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3361995 rs749213003	167	A>V		No	ClinGen ExAC gnomAD
TCGA novel	168	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360678871 rs1272204541	168	K>Q		No	ClinGen gnomAD
CA360678874 rs1342931083	168	K>R		No	ClinGen gnomAD
CA124942103 rs886259119 COSM3428809	170	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1272609845 CA360678892	171	Y>H		No	ClinGen gnomAD
rs1405576716 CA360678902	172	D>G		No	ClinGen TOPMed
CA3361998 rs747888523	172	D>N		No	ClinGen ExAC TOPMed gnomAD
CA124942113 rs964223440	175	T>A		No	ClinGen TOPMed
COSM1059378 CA3362000 rs776810151	176	M>I	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA360678929 rs1441108925	176	M>T		No	ClinGen gnomAD
rs138502993 CA3361999	176	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3362001 rs759774797	177	K>E		No	ClinGen ExAC gnomAD
rs765260254 CA3362002	178	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1167365517 CA360678945	179	H>D		No	ClinGen TOPMed gnomAD
CA360678949 rs1191026949	179	H>L		No	ClinGen TOPMed
CA360678946 rs1167365517	179	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs542159857 CA3362003	180	M>I		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	181	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	183	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360678985 rs1436436837	184	Q>E		No	ClinGen gnomAD
CA124942155 rs752936986	184	Q>H		No	ClinGen gnomAD
CA124942149 rs376155654	184	Q>R		No	ClinGen ESP
TCGA novel	185	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3362004 rs763459582 COSM3826523	186	V>I	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	188	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360679033 rs1453475042	191	G>E		No	ClinGen TOPMed
CA360679044 rs1295416752	193	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1295416752 CA360679043	193	Q>E		No	ClinGen TOPMed gnomAD
rs1299966564 CA360679052	194	L>F		No	ClinGen TOPMed
rs1255978656 CA360679079	197	N>K		No	ClinGen gnomAD
rs1011312788 CA360679081	198	Q>*		No	ClinGen TOPMed gnomAD
rs1011312788 CA124942191	198	Q>E		No	ClinGen TOPMed gnomAD
CA3362010 rs369584454	201	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1187545078 CA360679114	202	I>S		No	ClinGen gnomAD
CA3362011 rs779555018	202	I>V		No	ClinGen ExAC TOPMed gnomAD
CA360679118 rs1434457091	203	T>A		No	ClinGen gnomAD
rs755800376 CA3362013	203	T>I		No	ClinGen ExAC TOPMed gnomAD
rs755800376 CA3362012	203	T>R		No	ClinGen ExAC TOPMed gnomAD
rs541879675 CA124942218	206	L>M		No	ClinGen TOPMed gnomAD
CA360679167 rs1561536776	211	L>F		No	ClinGen Ensembl
CA360679183 rs1329807911	213	K>N		No	ClinGen gnomAD
rs1479222880 COSM374510 CA360679190	214	M>I	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA3362019 rs770017609	214	M>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA360679206 rs370663101	216	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA360679222 rs1328988861	218	M>I		No	ClinGen gnomAD
TCGA novel	220	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360679244 rs1207697205	221	A>V		No	ClinGen gnomAD
rs572319194 CA3362022	222	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA360679246 rs572319194	222	L>I		No	ClinGen 1000Genomes ExAC gnomAD
rs572319194 CA3362021	222	L>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	223	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777486670 CA360679271	224	G>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs777486670 CA3362040	224	G>R		No	ClinGen ExAC TOPMed gnomAD
CA360679274 rs1465082907	224	G>V		No	ClinGen TOPMed
rs143449963 CA3362041	225	I>M		No	ClinGen ESP ExAC TOPMed
rs915690711 CA124945067	225	I>V		No	ClinGen Ensembl
CA360679294 rs1580979769	227	D>E		No	ClinGen Ensembl
CA360679290 rs1434823555 COSM1186802	227	D>N	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA3362042 rs770828478	227	D>V		No	ClinGen ExAC TOPMed gnomAD
CA3362043 rs780110864	228	E>V		No	ClinGen ExAC gnomAD
rs978900815 CA124945069	235	L>I		No	ClinGen Ensembl
rs1448789764 CA360679356	236	V>A		No	ClinGen Ensembl
CA3362045 rs768573503	239	E>K		No	ClinGen ExAC gnomAD
rs1447274719 COSM1671794 CA360679382	240	I>T	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA3362046 rs774608068	240	I>V		No	ClinGen ExAC TOPMed gnomAD
CA360679394 rs1309135828	242	N>S		No	ClinGen gnomAD
rs147265497 CA3362048	242	N>Y		No	ClinGen ESP ExAC gnomAD
CA360679398 rs1370441389	243	V>I		No	ClinGen gnomAD
CA360679408 rs1408558251	244	H>R		No	ClinGen gnomAD
CA3362049 rs141693705	245	K>E		No	ClinGen ESP ExAC
CA360679419 rs1179678641	246	E>Q		No	ClinGen TOPMed
rs370199096 CA3362051	247	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs753382427 CA3362052	248	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA3362054 rs764584317	249	M>I		No	ClinGen ExAC gnomAD
CA360679443 rs1319375681	249	M>T		No	ClinGen gnomAD
rs759262810 CA3362053	249	M>V		No	ClinGen ExAC TOPMed gnomAD
CA124945129 rs147156724	250	S>L		No	ClinGen ESP TOPMed gnomAD
CA360679470 rs1351465946	252	E>G		No	ClinGen TOPMed
rs777684576 CA360679466	252	E>K		No	ClinGen ExAC TOPMed gnomAD
rs777684576 CA3362057	252	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA124945151 rs1031211957	253	Q>H		No	ClinGen Ensembl
rs1295702145 CA360679485	253	Q>R		No	ClinGen TOPMed gnomAD
rs751539220 CA3362058	254	I>V		No	ClinGen ExAC gnomAD
CA360679520 rs1240579735	256	P>A		No	ClinGen TOPMed
CA3362059 rs140381149	258	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA124945165 rs140381149	258	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3362060 rs781065252	259	E>Q		No	ClinGen ExAC gnomAD
CA3362061 rs182613310	261	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1580980489 CA360679613	263	F>V		No	ClinGen Ensembl
rs768930973 CA3362062	264	I>V		No	ClinGen ExAC TOPMed gnomAD
CA360679650 rs1169246305	265	D>E		No	ClinGen gnomAD
rs1428306177 CA360679661	266	V>A		No	ClinGen gnomAD
rs201582060 CA3362063	266	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA3362075 rs763644304	269	T>I		No	ClinGen ExAC gnomAD
rs750859713 CA3362076	270	T>M		No	ClinGen ExAC TOPMed gnomAD
CA124945601 rs1030254712	271	A>T		No	ClinGen Ensembl
rs757253816 CA3362077	272	A>G		No	ClinGen ExAC gnomAD
CA3362078 rs757253816	272	A>V		No	ClinGen ExAC gnomAD
rs750250605 CA3362079	273	K>T		No	ClinGen ExAC TOPMed gnomAD
rs954295449 CA124945607	275	Q>R		No	ClinGen TOPMed
TCGA novel	278	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs929584410 CA124945623	281	T>I		No	ClinGen TOPMed gnomAD
CA360679884 rs142818071	283	L>F		No	ClinGen ESP TOPMed gnomAD
CA3362083 rs199857892	284	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1219791654 CA360679889	285	E>K		No	ClinGen TOPMed
rs1321534481 CA360679931	290	L>R		No	ClinGen TOPMed
rs758500888 CA3362084	290	L>V		No	ClinGen ExAC gnomAD
rs1290858560 CA360679934	291	Q>K		No	ClinGen TOPMed
rs778028701 CA360679938	291	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA3362085 rs778028701	291	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs747406581 CA3362086	292	A>T		No	ClinGen ExAC TOPMed gnomAD
CA3362087 rs771480988	293	N>S		No	ClinGen ExAC TOPMed gnomAD
rs78300586 CA124945665	296	M>R		No	ClinGen Ensembl
rs1580984362 CA360679984	297	W>C		No	ClinGen Ensembl
rs147403485 CA3362089	299	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3362090 rs139205864	300	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751157949 CA124945698	301	T>I		No	ClinGen Ensembl
rs1580984537 CA360680050	307	V>L		No	ClinGen Ensembl
CA3362094 rs149945605	308	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3362109 rs371991026	310	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs371991026 CA360680081	310	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs768316557 CA3362110	310	K>R		No	ClinGen ExAC gnomAD
rs773919949 CA3362111	311	T>M		No	ClinGen ExAC gnomAD
TCGA novel	311	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771543690 CA3362114	313	A>G		No	ClinGen ExAC TOPMed
CA3362113 rs771543690	313	A>V		No	ClinGen ExAC TOPMed
CA360680103 rs372482792	314	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs372482792 CA3362116	314	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs918964806 CA124954426	316	L>V		No	ClinGen Ensembl
rs1454761319 CA360680128	317	M>R		No	ClinGen TOPMed
CA3362117 rs753709756	318	Q>E		No	ClinGen ExAC gnomAD
rs1288538932 CA360680158	321	Q>H		No	ClinGen TOPMed
rs1032523496 CA124954439	321	Q>K		No	ClinGen TOPMed gnomAD
rs145208291 CA3362118 CA3362119	322	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA360680168 rs200461855	323	L>I		No	ClinGen 1000Genomes TOPMed
CA124954453 rs200461855	323	L>V		No	ClinGen 1000Genomes TOPMed
rs751795881 CA3362120	324	L>S		No	ClinGen ExAC gnomAD
CA360680182 rs1403593945	325	N>S		No	ClinGen TOPMed
CA360680229 rs1446261370	330	V>A		No	ClinGen TOPMed
CA3362123 rs781144167	331	L>S		No	ClinGen ExAC gnomAD
rs1237730086 CA360680233	331	L>V		No	ClinGen gnomAD
CA3362124 rs750872853	333	L>S		No	ClinGen ExAC TOPMed gnomAD
CA360680264 rs1391490303	334	E>Q		No	ClinGen gnomAD
CA360680286 rs1430330298	336	R>G		No	ClinGen gnomAD
CA3362125 rs756642448	336	R>T		No	ClinGen ExAC gnomAD
CA360680303 rs749626451	337	I>S		No	ClinGen ExAC TOPMed gnomAD
rs749626451 CA3362127	337	I>T		No	ClinGen ExAC TOPMed gnomAD
CA3362126 rs558330122	337	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1581039536 CA360680310	338	E>Q		No	ClinGen Ensembl
CA3362128 rs769044843	340	S>P		No	ClinGen ExAC TOPMed gnomAD
CA360680333 rs769044843	340	S>T		No	ClinGen ExAC TOPMed gnomAD
rs778618874 CA360680385	344	C>*		No	ClinGen ExAC TOPMed gnomAD
CA360680392 rs1299830482	345	E>G		No	ClinGen gnomAD
CA360680400 rs1292920804	346	K>E		No	ClinGen TOPMed
TCGA novel	346	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148708882 CA124954542	347	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs148708882 CA3362131	347	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA360680426 rs1250172543	348	S>C		No	ClinGen gnomAD
TCGA novel	348	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3362132 rs771546383	348	S>T		No	ClinGen ExAC gnomAD
CA3362152 rs779152611	349	D>E		No	ClinGen ExAC gnomAD
CA3362153 rs115520719 RCV000961644	350	I>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3362155 rs777532493	351	V>M		No	ClinGen ExAC gnomAD
CA360681130 rs1395012081	353	L>P		No	ClinGen gnomAD
rs1026515840 CA124964141	355	S>N		No	ClinGen TOPMed
rs376917767 CA3362156	359	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1360036739 CA360681175	360	L>F		No	ClinGen Ensembl
rs75191436 CA124964152	360	L>P		No	ClinGen Ensembl
CA3362157 rs770632958	364	K>E		No	ClinGen ExAC gnomAD
CA3362158 rs776696582	364	K>N		No	ClinGen ExAC gnomAD
CA124964182 rs868414877	367	V>F		No	ClinGen TOPMed
CA360681239 rs1453345447	369	Q>H		No	ClinGen TOPMed gnomAD
CA360681255 rs1393056928	372	C>Y		No	ClinGen gnomAD
rs745811899 CA3362159	373	T>A		No	ClinGen ExAC gnomAD
rs1362487103 CA360681269	374	E>G		No	ClinGen TOPMed
CA360681265 rs1329367599	374	E>K		No	ClinGen gnomAD
CA360681298 rs1343993476	378	S>L		No	ClinGen gnomAD
rs895550673 CA124964229	380	Q>*		No	ClinGen TOPMed
CA360681310 rs1289399176	380	Q>R		No	ClinGen gnomAD
TCGA novel	381	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1280585665 CA360681352	386	Q>E		No	ClinGen gnomAD
CA360681391 rs1303379289	391	N>S		No	ClinGen TOPMed
CA3362165 rs760735476	392	D>V		No	ClinGen ExAC gnomAD
rs146594490 CA3362164	392	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA360681405 rs1268140433 COSM1059386	393	G>E	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA360681416 rs1169054508	395	E>K		No	ClinGen TOPMed
rs1267858804 CA360681426	396	P>S		No	ClinGen gnomAD
CA124964239 rs1054650516	397	P>T		No	ClinGen Ensembl
rs1184017961 CA360681439	398	P>L		No	ClinGen TOPMed gnomAD
rs893387595 CA124964240	398	P>S		No	ClinGen TOPMed
rs754280140 CA3362167	399	V>A		No	ClinGen ExAC gnomAD
rs970172787 CA124964244	400	V>A		No	ClinGen TOPMed gnomAD
rs970172787 CA360681449	400	V>G		No	ClinGen TOPMed gnomAD
VAR_041692	404	E>Q	an ovarian Endometrioid carcinoma sample; somatic mutation [UniProt]	No	UniProt
CA3362169 rs765590553	405	D>G		No	ClinGen ExAC TOPMed gnomAD
rs755472885 CA3362168	405	D>H		No	ClinGen ExAC gnomAD
rs752984074 CA3362171	407	R>L		No	ClinGen ExAC gnomAD
rs752984074 CA3362172	407	R>P		No	ClinGen ExAC gnomAD
rs752984074 CA3362170	407	R>Q		No	ClinGen ExAC gnomAD
CA360681503 rs1270130097	409	V>L		No	ClinGen TOPMed
CA3362173 rs746717991	411	S>P		No	ClinGen ExAC gnomAD
VAR_041693 CA3362174 rs33940843	412	M>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3362184 rs766408738	414	R>K		No	ClinGen ExAC gnomAD
rs150263624 CA3362186	415	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3362188 rs753315526	417	R>K		No	ClinGen ExAC gnomAD
CA3362189 rs758676832	417	R>S		No	ClinGen ExAC TOPMed gnomAD
rs753315526 CA360679531	417	R>T		No	ClinGen ExAC gnomAD
CA125003131 rs544415444	418	L>P		No	ClinGen Ensembl
rs1458515992 CA360679549	419	S>P		No	ClinGen TOPMed
rs751189127 CA3362191	420	K>E		No	ClinGen ExAC gnomAD
CA125003159 rs954003263	421	F>S		No	ClinGen TOPMed
CA360679610 rs1306883052	423	S>F		No	ClinGen gnomAD
rs1257556581 CA360679616	424	I>V		No	ClinGen TOPMed gnomAD
rs149466013 CA3362194	425	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA360679632 rs1241342106 COSM1059388	425	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs755687590 CA360679646	426	H>L		No	ClinGen ExAC gnomAD
rs755687590 CA3362195	426	H>R		No	ClinGen ExAC gnomAD
rs1189739159 CA360679658	427	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs779848308 CA3362196	428	I>F		No	ClinGen ExAC gnomAD
CA125003175 rs779848308	428	I>V		No	ClinGen ExAC gnomAD
CA125003179 rs961314695	431	I>M		No	ClinGen TOPMed
rs749300973 CA3362197	433	R>M		No	ClinGen ExAC gnomAD
TCGA novel	437	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3362199 rs778714218	438	A>S		No	ClinGen ExAC TOPMed gnomAD
CA360679766 rs1436600572	439	L>P		No	ClinGen gnomAD
rs2229086 CA3362201 VAR_006282	439	L>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3362203 rs567745658	441	S>A		No	ClinGen 1000Genomes ExAC
rs1212744484 CA360679797	442	S>L		No	ClinGen gnomAD
CA360679792 rs1215959185	442	S>P		No	ClinGen Ensembl
CA3362205 VAR_041694 rs34259824	443	A>P		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
CA3362206 rs34259824	443	A>T		No	ClinGen ExAC TOPMed gnomAD
rs764513649 CA3362207	443	A>V		No	ClinGen ExAC TOPMed gnomAD
CA360680252 rs1158845808	445	S>C		No	ClinGen gnomAD
rs781257398 CA3362227	446	D>N		No	ClinGen ExAC TOPMed gnomAD
CA360680265 rs1166330857	446	D>V		No	ClinGen gnomAD
CA3362229 rs532446797	447	M>V		No	ClinGen ExAC TOPMed gnomAD
CA125007661 rs991639747	448	I>M		No	ClinGen Ensembl
CA360680364 rs1300986194 CA360680362	451	S>R		No	ClinGen gnomAD
rs775670441 CA3362230	453	K>E		No	ClinGen ExAC gnomAD
rs34940896 CA360680405	453	K>N		No	ClinGen TOPMed gnomAD
rs1279234699 CA360680443	456	A>S		No	ClinGen gnomAD
CA3362231 rs763317277	456	A>V		No	ClinGen ExAC gnomAD
rs769262954 CA3362232	458	Q>*		No	ClinGen ExAC gnomAD
CA3362234 rs762261723	459	D>E		No	ClinGen ExAC gnomAD
CA3362233 rs775035329	459	D>N		No	ClinGen ExAC TOPMed gnomAD
VAR_041695	460	W>C	a lung small cell carcinoma sample; somatic mutation [UniProt]	No	UniProt
rs749981980 CA3362236	463	G>S		No	ClinGen ExAC gnomAD
CA360680511 rs1561672896	465	I>T		No	ClinGen Ensembl
rs760410775 CA3362237	466	P>S		No	ClinGen ExAC gnomAD
CA360680529 rs765761277	468	I>K		No	ClinGen ExAC gnomAD
rs765761277 CA3362238	468	I>T		No	ClinGen ExAC gnomAD
TCGA novel	469	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360680557 rs1385312907	472	E>K		No	ClinGen gnomAD
CA3362241 rs765156161	474	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1161653312	477	Q>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs752690893 CA3362242	480	F>I		No	ClinGen ExAC gnomAD
rs1352925289 CA360680633	483	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA360680640 rs1315816377	484	E>A		No	ClinGen gnomAD
rs1450470896 CA360680637	484	E>K		No	ClinGen gnomAD
rs1049176559 CA125007729	489	P>L		No	ClinGen TOPMed gnomAD
CA3362245 rs375338865	490	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA3362244 rs375338865	490	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA360680695 rs1300497077	492	Y>C		No	ClinGen gnomAD
rs1340721990 CA360680703	493	V>D		No	ClinGen gnomAD
CA3362246 rs756381569	502	R>K		No	ClinGen ExAC gnomAD
CA360680765 rs1435643806	502	R>S		No	ClinGen gnomAD
CA360680763 rs756381569	502	R>T		No	ClinGen ExAC gnomAD
CA360680761 rs1195541381	502	R>W		No	ClinGen gnomAD
rs761167271 CA125007746	504	H>Y		No	ClinGen Ensembl
VAR_051695 rs34204308 CA125007774	507	I>T		No	ClinGen UniProt Ensembl dbSNP
CA125007768 rs969387553	507	I>V		No	ClinGen gnomAD
rs749345973 CA3362248	508	Q>K		No	ClinGen ExAC gnomAD
rs768921478 CA3362249	509	Y>C		No	ClinGen ExAC gnomAD
CA3362253 rs147406165	510	V>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA3362252 rs147406165	510	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA3362251 rs748674450	510	V>I		No	ClinGen ExAC gnomAD
rs1382142960 CA360680840	512	N>S		No	ClinGen gnomAD
CA3362275 rs771259553	513	M>T		No	ClinGen ExAC gnomAD
rs747399710 CA3362274	513	M>V		No	ClinGen ExAC gnomAD
CA360680854 rs1283057918	514	Y>C		No	ClinGen TOPMed gnomAD
CA360680855 rs1283057918	514	Y>F		No	ClinGen TOPMed gnomAD
rs200996798 CA125010069	514	Y>H		No	ClinGen Ensembl
rs373617030 CA3362276	515	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3362278 rs764688399	517	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA125010093 rs1025163893	518	G>S		No	ClinGen TOPMed gnomAD
CA3362279 rs775003000	519	T>A		No	ClinGen ExAC TOPMed gnomAD
rs764059539 CA3362281	520	G>R		No	ClinGen ExAC gnomAD
rs200527034 CA3362282	523	N>D		No	ClinGen 1000Genomes ExAC gnomAD
CA360680909 rs1267918140	523	N>S		No	ClinGen gnomAD
rs767227990 CA3362284	525	P>A		No	ClinGen ExAC TOPMed gnomAD
rs755276149 CA3362286	525	P>R		No	ClinGen ExAC gnomAD
rs767227990 CA3362285	525	P>S		No	ClinGen ExAC TOPMed gnomAD
rs34269985 CA3362287	526	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1156927317 CA360680932	527	L>F		No	ClinGen gnomAD
rs937710904 CA125010162	528	I>L		No	ClinGen Ensembl
CA360680939 rs1367943555	528	I>T		No	ClinGen TOPMed gnomAD
CA360680942 rs1425851331	529	D>N		No	ClinGen gnomAD
rs758476925 CA3362289	536	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA360681002 rs1298096208	537	V>L		No	ClinGen TOPMed
CA360681021 rs1383198689	540	K>E		No	ClinGen TOPMed
rs946426705 CA125010215	543	G>S		No	ClinGen Ensembl
rs1336017543 CA360681055	545	V>F		No	ClinGen gnomAD
rs747486182 CA3362291	546	L>V		No	ClinGen ExAC gnomAD
CA3362292 rs771260179	547	L>V		No	ClinGen ExAC TOPMed gnomAD
CA3362294 rs529885618	548	N>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA360681079 rs1561679925	549	P>L		No	ClinGen Ensembl
CA3362295 rs539970593	550	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA125010236 rs191621957	551	P>H		No	ClinGen 1000Genomes ExAC gnomAD
CA3362296 rs191621957	551	P>L		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	553	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1561809101 CA360681551	554	K>R		No	ClinGen Ensembl
CA360681590 rs1383878824	559	S>I		No	ClinGen gnomAD
CA360681612 rs1561809145	562	D>G		No	ClinGen Ensembl
CA3362316 rs748902706	562	D>N		No	ClinGen ExAC gnomAD
TCGA novel	564	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773762377 CA3362318	564	I>T		No	ClinGen ExAC TOPMed gnomAD
rs768141758 COSM385952 CA3362317	564	I>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3362320 rs772106782	570	G>S		No	ClinGen ExAC gnomAD
CA3362321 rs373771239	570	G>V		No	ClinGen ESP ExAC gnomAD
rs1270135593 CA360682395	573	N>I		No	ClinGen gnomAD
rs1201969452 CA360682391	573	N>Y		No	ClinGen gnomAD
rs1197875609 CA360682399	574	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA360682429 rs1480553241	578	Y>C		No	ClinGen gnomAD
CA360682447 rs1198300986 COSM131721	580	G>D	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1230910952 CA360682449	581	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA360682453 COSM1432048 rs1401901866	581	T>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA3362348 rs767596727	585	K>E		No	ClinGen ExAC TOPMed gnomAD
CA360682477 rs767596727	585	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs139628994 CA3362349	585	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3362350 rs756640526	586	T>I		No	ClinGen ExAC gnomAD
rs766714663 CA3362351	587	S>F		No	ClinGen ExAC
CA360682493 rs1404540449	588	V>I		No	ClinGen gnomAD
TCGA novel	589	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1581776877 CA360682523	592	T>R		No	ClinGen Ensembl
rs755439964 CA3362353	594	K>*		No	ClinGen ExAC gnomAD
rs1224360800 CA360682537	594	K>R		No	ClinGen gnomAD
rs991988087 CA125086099	596	D>H		No	ClinGen gnomAD
CA360682566 rs1225443470	598	P>L		No	ClinGen gnomAD
rs747854537 CA3362355	599	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs757915772 CA3362356	600	E>K		No	ClinGen ExAC gnomAD
TCGA novel	605	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3362360 rs770972071	606	L>S		No	ClinGen ExAC TOPMed
CA360682649 rs1165444869	610	K>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1165444869 CA360682647	610	K>Q		No	ClinGen gnomAD
rs777619113 CA3362380	611	I>V		No	ClinGen ExAC gnomAD
rs145364639 CA125086865	613	K>N		No	ClinGen ESP gnomAD
CA360682709 rs1267828105	616	D>E		No	ClinGen TOPMed
CA360682721 rs1581786243	618	P>S		No	ClinGen Ensembl
rs1337490539 CA360682729	619	N>S		No	ClinGen gnomAD
rs1027448704 CA125086869	620	I>V		No	ClinGen gnomAD
rs745831489 CA3362384	622	K>R		No	ClinGen ExAC gnomAD
rs377353306 CA3362385	623	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs748317404 CA3362387	624	I>M		No	ClinGen ExAC gnomAD
rs779927380 CA125086878	624	I>R		No	ClinGen ExAC gnomAD
rs779927380 CA3362386	624	I>T		No	ClinGen ExAC gnomAD
rs1288310881 CA360682783	628	T>P		No	ClinGen TOPMed
CA125086885 rs74618133	629	Q>K		No	ClinGen Ensembl
CA360682802 rs1292063168	631	Q>E		No	ClinGen Ensembl
CA3362391 rs771059869	633	V>A		No	ClinGen ExAC gnomAD
CA3362393 rs761888755	634	Y>C		No	ClinGen ExAC gnomAD
CA3362392 rs776939775	634	Y>N		No	ClinGen ExAC gnomAD
rs761888755 CA3362394	634	Y>S		No	ClinGen ExAC gnomAD
rs1561822528 CA360682826	635	I>V		No	ClinGen Ensembl
rs753091722 CA3362395	636	I>V		No	ClinGen ExAC
CA360682872 rs1475597239	642	G>R		No	ClinGen gnomAD
rs1582028860 CA360682928	646	L>V		No	ClinGen Ensembl
TCGA novel	654	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA125118377 rs1022848685	657	K>E		No	ClinGen TOPMed gnomAD
rs968581529 CA125118378	658	L>F		No	ClinGen TOPMed
rs1561894310 CA360683014	658	L>P		No	ClinGen Ensembl
CA3362418 rs142394379	659	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1440389947 CA360683038	662	V>L		No	ClinGen TOPMed
TCGA novel	667	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	668	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755617134 CA3362421	669	A>T		No	ClinGen ExAC gnomAD
CA360684102 rs1280794043	672	M>I		No	ClinGen gnomAD
rs766296319 CA3362422	672	M>V		No	ClinGen ExAC gnomAD
rs1351309171 CA360684107	673	L>*		No	ClinGen gnomAD
rs754703753 CA3362424	674	Y>C		No	ClinGen ExAC gnomAD
CA125118415 rs112575947	675	L>P		No	ClinGen Ensembl
rs1222987963 CA360684125	676	E>K		No	ClinGen gnomAD
CA360684140 rs1561894456	678	K>Q		No	ClinGen Ensembl
CA3362426 rs747151084	680	C>F		No	ClinGen ExAC TOPMed gnomAD
CA360684169 rs1172470514	681	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1445771353 CA360683069	684	D>H		No	ClinGen gnomAD
TCGA novel	687	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756195127 CA3362449	693	G>D		No	ClinGen ExAC gnomAD
CA125169548 rs375506762	693	G>S		No	ClinGen ESP TOPMed gnomAD
rs1252160862 CA360683132	694	E>*		No	ClinGen TOPMed
TCGA novel	695	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780311722 CA3362451	696	N>D		No	ClinGen ExAC gnomAD
rs769259146 CA3362453	697	V>A		No	ClinGen ExAC gnomAD
CA360683174 rs1453369784	700	I>V		No	ClinGen gnomAD
CA125169549 rs899864087	703	F>C		No	ClinGen TOPMed
rs1319756199 CA360683216	705	M>I		No	ClinGen gnomAD
rs748538031 CA3362455	705	M>V		No	ClinGen ExAC
rs1229844751 CA360683225	707	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
COSM1310420 rs151332661 CA3362456	707	R>H	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs151332661 CA3362457	707	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs547479509 CA3362459	710	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA3362458 rs760355122	710	D>H		No	ClinGen ExAC TOPMed gnomAD
rs776097206 CA3362460	711	G>D		No	ClinGen ExAC gnomAD
CA360683257 rs1254477661	712	G>A		No	ClinGen TOPMed gnomAD
rs1254477661 CA360683258	712	G>E		No	ClinGen TOPMed gnomAD
rs759087973 CA3362461	712	G>R		No	ClinGen ExAC gnomAD
TCGA novel	715	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752636638 CA3362463	715	S>L		No	ClinGen ExAC TOPMed gnomAD
rs765156217 CA3362462	715	S>P		No	ClinGen ExAC gnomAD
TCGA novel	716	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360683287 rs1464781437	717	S>C		No	ClinGen gnomAD
rs762748995 CA3362464	718	G>R		No	ClinGen ExAC TOPMed
CA360683297 rs1407733029	719	L>S		No	ClinGen gnomAD
rs763800280 CA3362466	723	P>A		No	ClinGen ExAC gnomAD
CA125169551 rs923302417	726	W>L		No	ClinGen Ensembl
rs750617692 CA3362467 COSM1432050	728	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1376679897 CA360683379	731	A>T		No	ClinGen TOPMed
CA3362469 rs780467459	732	L>P		No	ClinGen ExAC gnomAD
CA360683400 rs1340119714	734	Y>F		No	ClinGen gnomAD
rs1265061795 CA360683405	735	G>R		No	ClinGen gnomAD
CA360683430 rs1291843152	737	Y>H		No	ClinGen gnomAD
CA3362501 rs145807358	738	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs202063368 CA360683474	743	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs202063368 CA3362503	743	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA360683491 rs1248538678	745	S>N		No	ClinGen gnomAD
CA3362505 rs201346702	748	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	750	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360683538 rs1244445623	752	E>Q		No	ClinGen gnomAD
TCGA novel	753	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	756	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774493581 CA3362507	758	V>I		No	ClinGen ExAC gnomAD
rs749312811 CA3362509	760	P>L		No	ClinGen ExAC gnomAD
TCGA novel	760	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3362511 rs759702707	761	Y>C		No	ClinGen ExAC
rs1165231868 CA360683611	763	G>R		No	ClinGen gnomAD
CA360683649 rs1414329914	768	Q>E		No	ClinGen gnomAD
rs1232762585 CA360683658	769	A>T		No	ClinGen TOPMed
CA3362512 rs765547770	769	A>V		No	ClinGen ExAC gnomAD
CA360683668 rs1344912074	771	E>K		No	ClinGen TOPMed
rs1275882062 CA360683684	773	V>I		No	ClinGen TOPMed
rs146949083 CA125170288	775	R>K		No	ClinGen ESP TOPMed gnomAD
rs137975508 CA125170425	777	Y>H		No	ClinGen ESP
rs1369871400 CA360683731	778	R>Q		No	ClinGen gnomAD
CA360683743 rs1265134769	780	S>T		No	ClinGen gnomAD
RCV001028093 CA360683755 rs1582454977	782	P>A		No	ClinGen ClinVar Ensembl dbSNP
CA3362539 rs190232603	785	C>W		No	ClinGen 1000Genomes ExAC gnomAD
rs768057319 CA3362540	786	P>A		No	ClinGen ExAC gnomAD
rs756567869 CA3362542	789	I>V		No	ClinGen ExAC gnomAD
rs779559454 CA3362543	790	S>A		No	ClinGen ExAC
CA360683843 rs1320684123	794	M>T		No	ClinGen gnomAD
CA3362545 rs149517787	795	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA360683863 rs778590818	796	C>W		No	ClinGen ExAC TOPMed gnomAD
CA360683867 rs1376759830	797	W>*		No	ClinGen gnomAD
CA3362547 rs747711164	798	D>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	800	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1432053 rs777925363 CA3362549	804	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs754420371 CA125170427	804	R>H		No	ClinGen gnomAD
CA360683920 rs754420371	804	R>L		No	ClinGen gnomAD
CA125170429 rs144036103	806	K>E		No	ClinGen ESP
CA360683948 rs1562009038	808	S>N		No	ClinGen Ensembl
CA3362550 rs746771043	808	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1287850533 CA360683960	810	L>F		No	ClinGen gnomAD
CA360683985 rs1261225256	813	E>D		No	ClinGen gnomAD
VAR_041696 CA3362552 rs56097357	813	E>Q		No	ClinGen UniProt ExAC dbSNP gnomAD
CA125170430 rs201713568	814	L>F		No	ClinGen 1000Genomes gnomAD
rs141808872 CA3362554	815	T>A		No	ClinGen ESP ExAC gnomAD
rs200830629 CA3362555	815	T>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	815	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3362556 rs201191333	818	K>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1419431747 CA360684041	822	T>K		No	ClinGen gnomAD

No associated diseases with P16591

10 regional properties for P16591

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	563 - 816	IPR000719
domain	SH2 domain	458 - 550	IPR000980
domain	FCH domain	1 - 92	IPR001060
domain	Serine-threonine/tyrosine-protein kinase, catalytic domain	565 - 814	IPR001245
active_site	Tyrosine-protein kinase, active site	680 - 692	IPR008266
binding_site	Protein kinase, ATP binding site	569 - 591	IPR017441
domain	Tyrosine-protein kinase, catalytic domain	563 - 814	IPR020635
domain	F-BAR domain	1 - 259	IPR031160
domain	Fes/Fps/Fer, SH2 domain	453 - 538	IPR035849
domain	Tyrosine-protein kinase Fer, F-BAR domain	5 - 238	IPR037452

Functions

		Description
EC Number	2.7.10.2	Protein-tyrosine kinases
Subcellular Localization	Cytoplasm Cytoplasm, cytoskeleton Cell membrane; Peripheral membrane protein; Cytoplasmic side Cell projection Cell junction Membrane; Peripheral membrane protein; Cytoplasmic side Nucleus Cytoplasm, cell cortex	Associated with the chromatin Detected on microtubules in polarized and motile vascular endothelial cells Colocalizes with F-actin at the cell cortex Colocalizes with PECAM1 and CTNND1 at nascent cell-cell contacts
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
anchoring junction	A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
cell cortex	The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins.
cell projection	A prolongation or process extending from a cell, e.g. a flagellum or axon.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extrinsic component of cytoplasmic side of plasma membrane	The component of a plasma membrane consisting of gene products and protein complexes that are loosely bound to its cytoplasmic surface, but not integrated into the hydrophobic region.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
type III intermediate filament	A type of intermediate filament, typically made up of one or more of the proteins vimentin, desmin, glial fibrillary acidic protein (GFAP), and peripherin. Unlike the keratins, the type III proteins can form both homo- and heteropolymeric IF filaments.

13 GO annotations of molecular function

Name	Definition
actin binding	Binding to monomeric or multimeric forms of actin, including actin filaments.
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
cadherin binding	Binding to cadherin, a type I membrane protein involved in cell adhesion.
delta-catenin binding	Binding to the delta subunit of the catenin complex.
epidermal growth factor receptor binding	Binding to an epidermal growth factor receptor.
gamma-catenin binding	Binding to catenin complex gamma subunit.
lipid binding	Binding to a lipid.
non-membrane spanning protein tyrosine kinase activity	Catalysis of the reaction: ATP + protein L-tyrosine = ADP + protein L-tyrosine phosphate by a non-membrane spanning protein.
protein phosphatase 1 binding	Binding to a protein phosphatase 1.
protein tyrosine kinase activity	Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate.
protein tyrosine kinase binding	Binding to protein tyrosine kinase.
signaling receptor binding	Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.
small GTPase binding	Binding to a small monomeric GTPase.

42 GO annotations of biological process

Name	Definition
actin cytoskeleton reorganization	A process that is carried out at the cellular level which results in dynamic structural changes to the arrangement of constituent parts of cytoskeletal structures comprising actin filaments and their associated proteins.
adherens junction assembly	The aggregation, arrangement and bonding together of a set of components to form an adherens junction. An adherens junction is a cell-cell junction composed of the epithelial cadherin-catenin complex at which the cytoplasmic face of the plasma membrane is attached to actin filaments.
adherens junction disassembly	The disaggregation of an adherens junction into its constituent components. An adherens junction is a cell-cell junction composed of the epithelial cadherin-catenin complex at which the cytoplasmic face of the plasma membrane is attached to actin filaments.
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 differentiation	The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
cell population proliferation	The multiplication or reproduction of cells, resulting in the expansion of a cell population.
cell-cell adhesion mediated by cadherin	The attachment of one cell to another cell via a cadherin, transmembrane proteins having repeating extracellular calcium ion binding domains.
cellular response to insulin stimulus	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 insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms.
cellular response to macrophage colony-stimulating factor stimulus	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 macrophage colony-stimulating factor stimulus.
cellular response to reactive oxygen species	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 reactive oxygen species stimulus. Reactive oxygen species include singlet oxygen, superoxide, and oxygen free radicals.
chemotaxis	The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis).
cytokine-mediated signaling pathway	The series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
diapedesis	The passage of a leukocyte between the tight junctions of endothelial cells lining blood vessels, typically the fourth and final step of cellular extravasation.
extracellular matrix-cell signaling	Any process that mediates the transfer of information between the extracellular matrix and a cell.
Fc-epsilon receptor signaling pathway	The series of molecular signals initiated by the binding of the Fc portion of immunoglobulin E (IgE) to an Fc-epsilon receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. The Fc portion of an immunoglobulin is its C-terminal constant region.
germ cell development	The process whose specific outcome is the progression of an immature germ cell over time, from its formation to the mature structure (gamete). A germ cell is any reproductive cell in a multicellular organism.
innate immune response	Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
insulin receptor signaling pathway via phosphatidylinositol 3-kinase	An insulin receptor signaling pathway in which the signal is transmitted via the phosphatidylinositol 3-kinase cascade.
interleukin-6-mediated signaling pathway	The series of molecular signals initiated by interleukin-6 binding to a receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
intracellular signal transduction	The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
Kit signaling pathway	The series of molecular signals initiated by the binding of stem cell factor to the tyrosine kinase receptor KIT on the surface of a target cell, and ending with regulation of a downstream cellular process, e.g. transcription. Stem cell factor (KIT ligand) binding to the receptor Kit mediates receptor dimerization, activation of its intrinsic tyrosine kinase activity and autophosphorylation. The activated receptor then phosphorylates various substrates, thereby activating distinct signaling cascades within the cell that trigger a change in state or activity of the cell.
microtubule cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins.
negative regulation of mast cell activation involved in immune response	Any process that stops, prevents, or reduces the frequency, rate, or extent of mast cell activation as part of an immune response.
peptidyl-tyrosine phosphorylation	The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine.
platelet-derived growth factor receptor signaling pathway	The series of molecular signals initiated by a ligand binding to a platelet-derived growth factor receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
positive regulation of actin filament polymerization	Any process that activates or increases the frequency, rate or extent of actin polymerization.
positive regulation of cell migration	Any process that activates or increases the frequency, rate or extent of cell migration.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of NF-kappaB transcription factor activity	Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB.
protein autophosphorylation	The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation).
protein phosphorylation	The process of introducing a phosphate group on to a protein.
regulation of epidermal growth factor receptor signaling pathway	Any process that modulates the frequency, rate or extent of epidermal growth factor receptor signaling pathway activity.
regulation of fibroblast migration	Any process that modulates the rate, frequency or extent of fibroblast cell migration. Fibroblast cell migration is accomplished by extension and retraction of a pseudopodium.
regulation of lamellipodium assembly	Any process that modulates the rate, frequency or extent of the formation of a lamellipodium, a thin sheetlike extension of the surface of a migrating cell.
regulation of mast cell degranulation	Any process that modulates the frequency, rate, or extent of mast cell degranulation.
regulation of protein phosphorylation	Any process that modulates the frequency, rate or extent of addition of phosphate groups into an amino acid in a protein.
response to lipopolysaccharide	Any process that results in a change in state or activity of an organism (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.
response to platelet-derived growth factor	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a platelet-derived growth factor stimulus.
Sertoli cell development	The process whose specific outcome is the progression of a Sertoli cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a Sertoli cell fate.
substrate adhesion-dependent cell spreading	The morphogenetic process that results in flattening of a cell as a consequence of its adhesion to a substrate.
transmembrane receptor protein tyrosine kinase signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription.
tyrosine phosphorylation of STAT protein	The process of introducing a phosphate group to a tyrosine residue of a STAT (Signal Transducer and Activator of Transcription) protein.

29 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9TTY2	FER	Tyrosine-protein kinase Fer	Canis lupus familiaris (Dog) (Canis familiaris)	PR
P43405	SYK	Tyrosine-protein kinase SYK	Homo sapiens (Human)	EV
P43403	ZAP70	Tyrosine-protein kinase ZAP-70	Homo sapiens (Human)	EV
Q13882	PTK6	Protein-tyrosine kinase 6	Homo sapiens (Human)	EV
P09769	FGR	Tyrosine-protein kinase Fgr	Homo sapiens (Human)	SS
P07948	LYN	Tyrosine-protein kinase Lyn	Homo sapiens (Human)	SS
P06241	FYN	Tyrosine-protein kinase Fyn	Homo sapiens (Human)	SS
P12931	SRC	Proto-oncogene tyrosine-protein kinase Src	Homo sapiens (Human)	EV
P06239	LCK	Tyrosine-protein kinase Lck	Homo sapiens (Human)	EV
P51451	BLK	Tyrosine-protein kinase Blk	Homo sapiens (Human)	SS
P08631	HCK	Tyrosine-protein kinase HCK	Homo sapiens (Human)	EV
P07947	YES1	Tyrosine-protein kinase Yes	Homo sapiens (Human)	SS
P42685	FRK	Tyrosine-protein kinase FRK	Homo sapiens (Human)	EV
Q08881	ITK	Tyrosine-protein kinase ITK/TSK	Homo sapiens (Human)	EV
Q06187	BTK	Tyrosine-protein kinase BTK	Homo sapiens (Human)	EV
P51813	BMX	Cytoplasmic tyrosine-protein kinase BMX	Homo sapiens (Human)	SS
P42680	TEC	Tyrosine-protein kinase Tec	Homo sapiens (Human)	SS
P42679	MATK	Megakaryocyte-associated tyrosine-protein kinase	Homo sapiens (Human)	SS
P41240	CSK	Tyrosine-protein kinase CSK	Homo sapiens (Human)	SS
Q14289	PTK2B	Protein-tyrosine kinase 2-beta	Homo sapiens (Human)	PR
Q05397	PTK2	Focal adhesion kinase 1	Homo sapiens (Human)	EV
Q13470	TNK1	Non-receptor tyrosine-protein kinase TNK1	Homo sapiens (Human)	PR
Q07912	TNK2	Activated CDC42 kinase 1	Homo sapiens (Human)	EV
Q6J9G0	STYK1	Tyrosine-protein kinase STYK1	Homo sapiens (Human)	PR
P42684	ABL2	Tyrosine-protein kinase ABL2	Homo sapiens (Human)	SS
P00519	ABL1	Tyrosine-protein kinase ABL1	Homo sapiens (Human)	EV
P70451	Fer	Tyrosine-protein kinase Fer	Mus musculus (Mouse)	PR
P09760	Fer	Tyrosine-protein kinase Fer	Rattus norvegicus (Rat)	PR
O01798	spe-8	Spermatocyte protein spe-8	Caenorhabditis elegans	PR

10	20	30	40	50	60
MGFGSDLKNS	HEAVLKLQDW	ELRLLETVKK	FMALRIKSDK	EYASTLQNLC	NQVDKESTVQ
70	80	90	100	110	120
MNYVSNVSKS	WLLMIQQTEQ	LSRIMKTHAE	DLNSGPLHRL	TMMIKDKQQV	KKSYIGVHQQ
130	140	150	160	170	180
IEAEMIKVTK	TELEKLKCSY	RQLIKEMNSA	KEKYKEALAK	GKETEKAKER	YDKATMKLHM
190	200	210	220	230	240
LHNQYVLALK	GAQLHQNQYY	DITLPLLLDS	LQKMQEEMIK	ALKGIFDEYS	QITSLVTEEI
250	260	270	280	290	300
VNVHKEIQMS	VEQIDPSTEY	NNFIDVHRTT	AAKEQEIEFD	TSLLEENENL	QANEIMWNNL
310	320	330	340	350	360
TAESLQVMLK	TLAEELMQTQ	QMLLNKEEAV	LELEKRIEES	SETCEKKSDI	VLLLSQKQAL
370	380	390	400	410	420
EELKQSVQQL	RCTEAKFSAQ	KELLEQKVQE	NDGKEPPPVV	NYEEDARSVT	SMERKERLSK
430	440	450	460	470	480
FESIRHSIAG	IIRSPKSALG	SSALSDMISI	SEKPLAEQDW	YHGAIPRIEA	QELLKKQGDF
490	500	510	520	530	540
LVRESHGKPG	EYVLSVYSDG	QRRHFIIQYV	DNMYRFEGTG	FSNIPQLIDH	HYTTKQVITK
550	560	570	580	590	600
KSGVVLLNPI	PKDKKWILSH	EDVILGELLG	KGNFGEVYKG	TLKDKTSVAV	KTCKEDLPQE
610	620	630	640	650	660
LKIKFLQEAK	ILKQYDHPNI	VKLIGVCTQR	QPVYIIMELV	SGGDFLTFLR	RKKDELKLKQ
670	680	690	700	710	720
LVKFSLDAAA	GMLYLESKNC	IHRDLAARNC	LVGENNVLKI	SDFGMSRQED	GGVYSSSGLK
730	740	750	760	770	780
QIPIKWTAPE	ALNYGRYSSE	SDVWSFGILL	WETFSLGVCP	YPGMTNQQAR	EQVERGYRMS
790	800	810	820
APQHCPEDIS	KIMMKCWDYK	PENRPKFSEL	QKELTIIKRK	LT