AiPD: Autoinhibited Protein Database

Q9ULQ0

Gene name	STRIP2 (FAM40B, KIAA1170)
Protein name	Striatin-interacting protein 2
Names	Protein FAM40B
Species	Homo sapiens (Human)
KEGG Pathway	hsa:57464
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-68 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-68 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q9ULQ0

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9ULQ0-F1	Predicted				AlphaFoldDB

631 variants for Q9ULQ0

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA369253396 rs1443665288	3	D>N		No	ClinGen gnomAD
CA369253403 rs773829057	4	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1348518896 CA369253407	4	P>L		No	ClinGen TOPMed gnomAD
rs1348518896 CA369253406	4	P>R		No	ClinGen TOPMed gnomAD
CA4480203 rs773829057	4	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1463970353 CA369253411	5	A>D		No	ClinGen gnomAD
rs931241501 CA166255195	7	P>S		No	ClinGen Ensembl
CA4480205 rs771901284	10	G>E		No	ClinGen ExAC TOPMed gnomAD
CA369253459 rs1383749366	10	G>R		No	ClinGen gnomAD
CA369253476 rs1310243093	11	G>D		No	ClinGen gnomAD
CA166255212 rs938822764	11	G>R		No	ClinGen TOPMed
rs1205099445 CA369253492	12	P>R		No	ClinGen gnomAD
CA369253503 rs1479631595	13	P>H		No	ClinGen gnomAD
CA369253509 rs1479631595	13	P>L		No	ClinGen gnomAD
CA369253555 rs1204977034	16	G>V		No	ClinGen TOPMed gnomAD
CA166255223 rs879581055	18	G>C		No	ClinGen TOPMed gnomAD
CA369253589 rs1181437382	19	N>Y		No	ClinGen gnomAD
rs1412066332 CA369253652	21	G>A		No	ClinGen gnomAD
rs1430701631 CA369253665	22	G>C		No	ClinGen gnomAD
CA369253671 rs1171703389	22	G>D		No	ClinGen TOPMed gnomAD
CA369253669 rs1171703389	22	G>V		No	ClinGen TOPMed gnomAD
CA369253685 rs1356540354	23	K>R		No	ClinGen TOPMed
CA369253758 rs1372957136	28	A>T		No	ClinGen gnomAD
CA369253766 rs1350725539	28	A>V		No	ClinGen gnomAD
CA4480207 rs567050501	29	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA369253776 rs1464546205	29	P>S		No	ClinGen gnomAD
CA369253807 rs1415568804	31	G>S		No	ClinGen TOPMed
CA4480208 rs760332304	32	R>C		No	ClinGen ExAC TOPMed gnomAD
CA369253837 rs1452174002	32	R>H		No	ClinGen TOPMed gnomAD
CA369253834 rs1452174002	32	R>L		No	ClinGen TOPMed gnomAD
rs138737421 CA166255251	34	A>G		No	ClinGen 1000Genomes
CA369253861 rs1584926705	34	A>S		No	ClinGen Ensembl
rs1214893326 CA369253954	39	R>L		No	ClinGen gnomAD
CA369253969 rs1584926736	40	R>L		No	ClinGen Ensembl
CA4480209 rs200680852	41	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1263207961 CA369254001	42	S>*		No	ClinGen TOPMed gnomAD
rs1201348885 CA369254028	43	E>D		No	ClinGen TOPMed gnomAD
rs1485832690 CA369254008	43	E>Q		No	ClinGen TOPMed
rs1480415354 CA369255751	44	G>S		No	ClinGen gnomAD
CA4480219 rs748990113	44	G>V		No	ClinGen ExAC gnomAD
CA4480221 rs778464419	46	V>A		No	ClinGen ExAC gnomAD
CA4480222 rs367830416	49	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs61744175 CA166258355	50	T>A		No	ClinGen ExAC gnomAD
CA4480223 rs61744175	50	T>P		No	ClinGen ExAC gnomAD
rs151084809 CA4480224	52	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA4480226 rs746855917	54	E>K		No	ClinGen ExAC TOPMed gnomAD
CA4480225 rs746855917	54	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA4480227 rs776533288	55	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA4480229 rs770125907	59	D>H		No	ClinGen ExAC
rs775724444 CA4480230	60	G>R		No	ClinGen ExAC TOPMed gnomAD
rs141063717 CA4480231	62	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1250255932 CA369256278	62	A>S		No	ClinGen TOPMed
rs371488277 CA166258389	63	A>T		No	ClinGen Ensembl
CA166258393 rs1031407303	63	A>V		No	ClinGen TOPMed gnomAD
rs751962026 CA4480233	64	E>K		No	ClinGen ExAC TOPMed gnomAD
CA369256343 rs1383189475	65	L>F		No	ClinGen gnomAD
CA4480247 rs775814308	69	Y>C		No	ClinGen ExAC gnomAD
CA4480246 rs770142709	69	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA4480248 rs763114833	70	S>I		No	ClinGen ExAC gnomAD
CA369256409 rs1395120323	71	Y>*		No	ClinGen gnomAD
rs768667633 CA4480249	72	T>A		No	ClinGen ExAC TOPMed gnomAD
rs768667633 CA369256411	72	T>P		No	ClinGen ExAC TOPMed gnomAD
CA369256417 rs1318494256	73	E>K		No	ClinGen TOPMed
CA166260109 rs752418600	75	L>P		No	ClinGen Ensembl
rs1040483780 CA166260113	76	E>G		No	ClinGen Ensembl
CA369256455 rs1395354603	78	T>S		No	ClinGen TOPMed
rs1367675265 CA369256467	80	N>Y		No	ClinGen gnomAD
CA4480254 rs188667178	90	T>I		No	ClinGen 1000Genomes ExAC TOPMed
rs570968068 CA4480266	92	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA369257885 rs570968068	92	V>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1257721055 CA369257907	94	G>S		No	ClinGen TOPMed
CA369257917 rs1562899375	94	G>V		No	ClinGen Ensembl
rs946036389 CA166264598	96	E>K		No	ClinGen TOPMed gnomAD
CA4480268 rs774353277	99	E>G		No	ClinGen ExAC
rs1383568598 CA369257996	100	L>V		No	ClinGen gnomAD
CA4480270 rs772576096	102	E>Q		No	ClinGen ExAC
rs1352226958 CA369258050	103	D>G		No	ClinGen TOPMed gnomAD
CA4480272 rs145786595	104	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150217386 CA4480271	104	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs766783167 COSM744579 CA4480273	106	K>N	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA369258088 rs1399928113	106	K>R		No	ClinGen gnomAD
rs1347444834 CA369258102	107	A>G		No	ClinGen gnomAD
TCGA novel	107	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369258112 rs1224156200	108	Y>C		No	ClinGen gnomAD
CA4480274 rs202170276	109	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA369258137 rs1303768817	110	M>L		No	ClinGen TOPMed
rs1419665424 CA369258152	111	G>R		No	ClinGen TOPMed
CA4480276 rs375288795 COSM1085459	115	R>Q	endometrium Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA4480275 rs762567887 COSM1319027	115	R>W	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs751047330 CA4480277	117	E>K		No	ClinGen ExAC gnomAD
CA369258300 rs1270893159	118	V>A		No	ClinGen TOPMed gnomAD
CA369258298 rs1270893159	118	V>G		No	ClinGen TOPMed gnomAD
rs1440334870 COSM1178978 CA369258294	118	V>L	prostate [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1197471897 CA369258323	119	V>A		No	ClinGen gnomAD
rs1197471897 CA369258325	119	V>G		No	ClinGen gnomAD
rs756780001 CA4480278	119	V>I		No	ClinGen ExAC gnomAD
rs767595156 CA4480279	120	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1554375611 CA369258360	121	R>K		No	ClinGen Ensembl
rs200542779 CA166264659	123	R>L		No	ClinGen ExAC TOPMed gnomAD
rs200542779 CA4480282	123	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs777011135 CA4480281 COSM1448028	123	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA4480284 rs755158755	124	R>Q		No	ClinGen ExAC gnomAD
CA4480283 rs201214419	124	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA166264677 rs985024857	127	V>G		No	ClinGen Ensembl
CA369258479 rs1562899548	127	V>M		No	ClinGen Ensembl
CA4480289 rs773241529	129	R>L		No	ClinGen ExAC TOPMed gnomAD
rs773241529 COSM1568628 CA4480288	129	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs753138026 CA4480287	129	R>W		No	ClinGen ExAC TOPMed gnomAD
CA4480291 rs150991771	133	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
rs200555975 CA4480292	134	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4480294 rs774017195	136	Q>E		No	ClinGen ExAC gnomAD
rs1367190031 CA369259163	137	G>D		No	ClinGen gnomAD
CA4480312 rs141825074	138	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA4480311 rs141825074	138	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA4480310 rs781690587	138	T>S		No	ClinGen ExAC TOPMed gnomAD
rs141825074 CA166265532	138	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1417331463 CA369259175	139	F>L		No	ClinGen TOPMed
rs1444837497 CA369259182	141	E>K		No	ClinGen gnomAD
TCGA novel	142	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs576195374 CA166265533	143	D>E		No	ClinGen 1000Genomes
rs1475687232 CA369259223	144	S>*		No	ClinGen TOPMed
CA4480313 rs775695694	146	V>I		No	ClinGen ExAC gnomAD
CA4480315 rs199593322	147	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA166265546 rs980911645	148	V>E		No	ClinGen Ensembl
rs772851414 CA4480316	150	H>R		No	ClinGen ExAC gnomAD
CA4480317 rs760203063	151	W>C		No	ClinGen ExAC TOPMed gnomAD
CA4480318 rs373778102	152	S>F		No	ClinGen ESP ExAC gnomAD
rs1315570732 CA369259377	153	R>S		No	ClinGen gnomAD
rs753765583 CA4480319	154	Y>C		No	ClinGen ExAC gnomAD
CA369259428 rs1243320423	155	N>K		No	ClinGen gnomAD
TCGA novel	156	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369259562 rs1253180360	161	Q>R		No	ClinGen TOPMed
rs200218313 CA166265597	163	G>E		No	ClinGen TOPMed
TCGA novel	163	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	163	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4480322 rs752488615	169	L>R		No	ClinGen ExAC gnomAD
rs765124595 CA4480321	169	L>V		No	ClinGen ExAC gnomAD
CA369259743 rs1464178802	171	L>I		No	ClinGen gnomAD
CA369259754 rs1584945610	172	L>F		No	ClinGen Ensembl
CA369259793 rs1378737360	174	M>I		No	ClinGen TOPMed gnomAD
rs1050939409 CA369259783	174	M>L		No	ClinGen TOPMed gnomAD
rs201255678 CA4480324	174	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1050939409 CA166265639	174	M>V		No	ClinGen TOPMed gnomAD
rs559282908 CA4480325	175	E>A		No	ClinGen 1000Genomes ExAC gnomAD
CA4480326 rs758750963	175	E>D		No	ClinGen ExAC TOPMed gnomAD
rs781391687 CA4480344	177	D>E		No	ClinGen ExAC gnomAD
CA369259921 rs750465835 CA4480345	178	N>K		No	ClinGen ExAC TOPMed gnomAD
rs756649760 CA4480346	179	S>C		No	ClinGen ExAC gnomAD
rs372397517 CA4480347	180	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA4480348 rs749690321	182	C>G		No	ClinGen ExAC gnomAD
rs779386104 CA4480350	186	L>F		No	ClinGen ExAC gnomAD
CA369260032 rs986703724	187	R>G		No	ClinGen TOPMed gnomAD
rs746720666 CA4480351	187	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA166266352 rs986703724	187	R>W		No	ClinGen TOPMed gnomAD
CA369260079 rs1477767322	191	V>I		No	ClinGen gnomAD
CA369260102 rs1355618552	192	S>F		No	ClinGen TOPMed
rs745312704 CA4480354	193	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	195	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA166266390 COSM345905 rs148031586	196	S>G	lung [Cosmic]	No	ClinGen cosmic curated ESP TOPMed
CA4480356 rs775369368	199	L>F		No	ClinGen ExAC gnomAD
CA166266414 rs956415922	200	R>K		No	ClinGen Ensembl
rs1450583726 CA369260259	201	V>L		No	ClinGen TOPMed gnomAD
rs1450583726 CA369260256	201	V>M		No	ClinGen TOPMed gnomAD
rs761456126 CA4480378	203	L>P		No	ClinGen ExAC gnomAD
CA4480379 rs767802156	205	V>D		No	ClinGen ExAC
rs964619581 CA166266553	205	V>L		No	ClinGen Ensembl
rs141758644 CA4480380	206	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA166266570 rs562301216	206	M>T		No	ClinGen gnomAD
CA166266560 rs141758644	206	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA4480381 rs368934017	209	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA369260356 rs1236535956	210	V>M		No	ClinGen gnomAD
CA369260374 rs1432079872	212	N>S		No	ClinGen TOPMed gnomAD
rs766612950 CA4480383	213	I>V		No	ClinGen ExAC
CA4480384 rs753949992	214	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs760184468 CA4480385 COSM1196102	214	R>H	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4480387 rs193223811	216	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200516125 CA4480389	217	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750093828 CA4480390	217	R>Q		No	ClinGen ExAC gnomAD
CA369260407 rs1167955105	218	E>G		No	ClinGen gnomAD
CA369260406 rs1167955105	218	E>V		No	ClinGen gnomAD
CA369260420 rs1414691248	220	D>V		No	ClinGen gnomAD
CA369260439 rs1340313127	221	P>L		No	ClinGen gnomAD
rs779607000 CA4480392	221	P>S		No	ClinGen ExAC gnomAD
rs140414019 CA4480393	223	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA369260492 rs1218053691	224	W>*		No	ClinGen gnomAD
CA369260489 rs1341709868	224	W>G		No	ClinGen gnomAD
CA369260512 rs1206583470	225	R>T		No	ClinGen TOPMed
CA369260564 rs569854698	228	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4480395 rs778667266	228	R>Q	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM744577 rs569854698 CA4480394	228	R>W	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA369260580 rs1231775240	229	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA4480397 rs771801303	230	T>N		No	ClinGen ExAC gnomAD
CA4480396 rs200958944	230	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4480399 rs773034661	232	R>C		No	ClinGen ExAC TOPMed gnomAD
CA166266684 rs773034661	232	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1217539637 CA369260652	232	R>H		No	ClinGen TOPMed gnomAD
rs929826891 CA166266702	233	T>I		No	ClinGen TOPMed
CA369260697 rs1436163826	234	E>D		No	ClinGen TOPMed
rs1047786102 CA166266709	234	E>K		No	ClinGen TOPMed
CA4480415 rs748083251	238	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4480416 rs199882915	239	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA369260938 rs1435845646	240	H>R		No	ClinGen gnomAD
CA369260943 rs1431652080	241	N>D		No	ClinGen TOPMed
CA4480418 rs777491329	241	N>K		No	ClinGen ExAC gnomAD
CA4480419 rs746730562 COSM744576	243	E>K	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs771305258 CA4480420	244	P>A		No	ClinGen ExAC TOPMed gnomAD
CA166267262 rs771305258	244	P>S		No	ClinGen ExAC TOPMed gnomAD
rs771305258 CA369260964	244	P>T		No	ClinGen ExAC TOPMed gnomAD
CA166267277 rs1026636030	248	L>*		No	ClinGen TOPMed gnomAD
CA369261012 rs1387383589	251	S>F		No	ClinGen TOPMed gnomAD
CA4480422 rs150002869	254	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1343733410 CA369261058	258	S>R		No	ClinGen TOPMed
rs778811426 CA166267297	261	A>G		No	ClinGen gnomAD
rs189583337 CA4480423	262	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1309704298 CA369261085	262	P>S		No	ClinGen gnomAD
TCGA novel	263	H>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1038773275 CA166267301	263	H>Y		No	ClinGen Ensembl
CA166267303 rs900215603	265	P>L		No	ClinGen Ensembl
CA369261130 rs900215603	265	P>R		No	ClinGen Ensembl
rs1267095293 CA369261125	265	P>S		No	ClinGen gnomAD
CA4480424 rs775627580	266	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	268	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369261182 rs1264675587	269	V>F		No	ClinGen gnomAD
CA166267341 rs752486134	274	W>*		No	ClinGen Ensembl
TCGA novel	275	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1584947740 CA369261311	276	V>G		No	ClinGen Ensembl
CA369261325 rs1370636092	277	V>F		No	ClinGen gnomAD
CA369261337 rs1417008120	277	V>G		No	ClinGen gnomAD
rs746153646 CA4480441	280	T>I		No	ClinGen ExAC TOPMed gnomAD
rs746153646 CA369261591	280	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1584948836 CA369261581	280	T>P		No	ClinGen Ensembl
CA4480443 rs775439750	281	L>F		No	ClinGen ExAC gnomAD
rs1460674203 CA369261627	282	G>S		No	ClinGen gnomAD
TCGA novel	283	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762277087 CA4480447	290	L>F		No	ClinGen ExAC gnomAD
rs773550980 CA4480449	295	R>Q		No	ClinGen ExAC gnomAD
rs767916162 CA4480448	295	R>W		No	ClinGen ExAC gnomAD
rs759174988 CA4480450	296	A>T		No	ClinGen ExAC gnomAD
CA369261749 rs1170907251	297	E>A		No	ClinGen TOPMed
CA369261765 rs1584948906	299	G>A		No	ClinGen Ensembl
CA166268075 rs565845364	301	P>A		No	ClinGen Ensembl
CA369261776 rs1211883731	301	P>L		No	ClinGen gnomAD
CA369261779 rs1584948925	302	P>S		No	ClinGen Ensembl
TCGA novel	305	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369261818 rs1200260189	306	D>H		No	ClinGen gnomAD
rs139485685 CA4480453	309	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs763670981 CA4480454	309	Q>R		No	ClinGen ExAC gnomAD
rs1584948958 CA369261885	310	V>G		No	ClinGen Ensembl
rs751598373 CA4480455	311	V>M		No	ClinGen ExAC TOPMed gnomAD
rs550182335 CA4480457	315	R>H		No	ClinGen ExAC TOPMed gnomAD
rs150058386 CA4480459	319	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	321	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA166268168 rs1041506510	323	T>I		No	ClinGen TOPMed
rs1359299554 CA369262084	326	L>P		No	ClinGen gnomAD
rs768820538 CA4480462	327	G>E		No	ClinGen ExAC TOPMed gnomAD
rs774390393 CA4480463	328	E>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	328	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA166268184 rs375374382	331	L>P		No	ClinGen ExAC TOPMed gnomAD
CA4480464 rs375374382	331	L>R		No	ClinGen ExAC TOPMed gnomAD
CA369262147 rs1278655137	332	A>P		No	ClinGen TOPMed gnomAD
rs1278655137 CA369262145	332	A>T		No	ClinGen TOPMed gnomAD
CA369262178 rs1489551568	335	P>T		No	ClinGen gnomAD
TCGA novel	336	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1019680018 CA166268207	339	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs773569020 CA4480467	339	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4480469 rs761038451	340	G>D		No	ClinGen ExAC gnomAD
CA4480470 rs377588013	341	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs189698068 CA4480471	341	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA369262242 rs377588013	341	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148770152 CA4480472	342	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA4480474 rs142406635	342	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4480473 rs142406635	342	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761847027 CA4480475	343	G>S		No	ClinGen ExAC gnomAD
rs1293613320 CA369262280	344	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1293613320 CA369262277	344	S>Y		No	ClinGen TOPMed gnomAD
CA166268259 rs750210187 COSM3431236	345	R>*	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA4480477 rs750210187	345	R>G		No	ClinGen ExAC TOPMed gnomAD
rs755899463 CA4480478	345	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4480479 rs779680867	346	R>K		No	ClinGen ExAC TOPMed gnomAD
CA4480507 rs768445796	347	Q>P		No	ClinGen ExAC gnomAD
CA4480509 rs151264831	349	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA166269405 rs771755331	351	K>N		No	ClinGen ExAC gnomAD
rs1423797315 CA369263054	353	D>G		No	ClinGen gnomAD
CA369263052 rs1195142594	353	D>H		No	ClinGen gnomAD
CA369263092 rs1426849242	358	Y>*		No	ClinGen gnomAD
CA369263090 rs1342428387	358	Y>C		No	ClinGen TOPMed gnomAD
rs772581138 CA4480511	360	E>G		No	ClinGen ExAC gnomAD
rs543986391 CA166269416	362	D>E		No	ClinGen Ensembl
rs760732721 CA4480512	365	K>R		No	ClinGen ExAC gnomAD
rs766161807 CA4480513	366	T>I		No	ClinGen ExAC gnomAD
rs371338199 CA369263163 CA369263164	368	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA369263169 rs1341254695	369	P>L		No	ClinGen gnomAD
rs867494487 CA166269429	369	P>T		No	ClinGen Ensembl
rs73721736 CA369263170	370	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4480516 rs73721736	370	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	370	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752968786 CA4480517	375	E>*		No	ClinGen ExAC gnomAD
rs758607869 CA4480518	375	E>V		No	ClinGen ExAC gnomAD
rs764305785 CA4480519	376	E>*		No	ClinGen ExAC gnomAD
CA4480520 rs751530019	380	D>V		No	ClinGen ExAC gnomAD
rs1283296180 CA369263253	382	E>G		No	ClinGen TOPMed
rs757796353 COSM1448031 CA4480521	383	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA4480522 rs2242030 VAR_049021	383	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA369263276 rs1190436899	386	D>G		No	ClinGen TOPMed gnomAD
CA369263277 rs1190436899	386	D>V		No	ClinGen TOPMed gnomAD
rs1530824 CA166269483	386	D>Y		No	ClinGen Ensembl
rs1392379660 CA369263286	388	E>K		No	ClinGen TOPMed
rs1378934172 CA369263304	390	D>V		No	ClinGen gnomAD
rs1584950931 CA369263318	393	E>Q		No	ClinGen Ensembl
COSM1194657 rs1174982414 CA369263326	394	Q>E	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1394927700 CA369263333	395	D>N		No	ClinGen gnomAD
CA4480524 rs756587807	396	P>L		No	ClinGen ExAC gnomAD
CA369263345 rs756587807	396	P>R		No	ClinGen ExAC gnomAD
rs1381682286 CA369263351	398	V>M		No	ClinGen gnomAD
rs771619137 CA4480527	400	P>S		No	ClinGen ExAC gnomAD
CA4480529 rs200024232	404	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	405	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4480530 rs770918799	406	P>A		No	ClinGen ExAC TOPMed gnomAD
CA369263400 rs770918799	406	P>T		No	ClinGen ExAC TOPMed gnomAD
CA4480532 rs759435380	409	A>T		No	ClinGen ExAC gnomAD
rs1202794909 CA369263421	410	E>K		No	ClinGen gnomAD
CA4480534 rs374691340	411	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs765078355 CA4480533	411	R>W		No	ClinGen ExAC TOPMed gnomAD
CA369263466 rs1452908931	417	G>S		No	ClinGen gnomAD
CA369263495 rs1325523559	421	A>D		No	ClinGen TOPMed
rs1201769528 CA369263492	421	A>T		No	ClinGen TOPMed
rs1364816440 CA369263501	422	P>L		No	ClinGen gnomAD
rs764169125 CA4480536	423	K>E		No	ClinGen ExAC gnomAD
CA369263511 rs1156882616	424	V>I		No	ClinGen TOPMed gnomAD
CA369263512 rs1156882616	424	V>L		No	ClinGen TOPMed gnomAD
rs1222668332 CA369263521	425	R>T		No	ClinGen TOPMed
CA369263538 rs1408165850	426	Q>P		No	ClinGen TOPMed
rs1389582847 CA369263546	427	K>T		No	ClinGen gnomAD
rs375518925 CA166269870	429	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs375518925 CA4480558	429	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA166269888 rs763904409	429	I>T		No	ClinGen TOPMed
CA369263594 rs1201220203	434	E>Q		No	ClinGen TOPMed
CA369263621 rs1488565472	437	R>K		No	ClinGen TOPMed
TCGA novel	437	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1232678317 CA369263646	440	F>C		No	ClinGen TOPMed
CA4480559 rs751312925	440	F>I		No	ClinGen ExAC gnomAD
CA369263647 rs1290922385	440	F>L		No	ClinGen gnomAD
CA369263659 rs1252226145	442	G>A		No	ClinGen gnomAD
COSM220278 rs571423095 CA4480560	442	G>R	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1252226145 CA369263660	442	G>V		No	ClinGen gnomAD
rs766934725 CA4480561	444	T>A		No	ClinGen ExAC TOPMed
rs201152686 CA4480562	445	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1562905901 CA369263706	448	D>Y		No	ClinGen Ensembl
CA4480579 rs767020600	449	T>A		No	ClinGen ExAC gnomAD
CA4480580 rs374147725	452	L>F		No	ClinGen ESP ExAC gnomAD
CA369263767 rs1258938932	457	R>S		No	ClinGen gnomAD
rs760063390 CA4480581	460	H>L		No	ClinGen ExAC gnomAD
rs760063390 CA369263786	460	H>R		No	ClinGen ExAC gnomAD
rs1334356559 CA369263795	461	E>D		No	ClinGen TOPMed
CA4480582 rs765576478	462	S>N		No	ClinGen ExAC gnomAD
rs1346482468 CA369263806	463	V>M		No	ClinGen gnomAD
CA4480583 rs753041742	464	K>N		No	ClinGen ExAC TOPMed gnomAD
CA4480601 rs775742735	469	H>Y		No	ClinGen ExAC gnomAD
rs1044992841 CA166271174	471	Y>C		No	ClinGen Ensembl
rs763267584 CA4480602	474	I>V		No	ClinGen ExAC TOPMed gnomAD
CA4480603 rs367686911	475	A>T	Variant assessed as Somatic; 4.628e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs188519784 CA4480604	476	D>E		No	ClinGen 1000Genomes ExAC gnomAD
CA4480605 rs73234771	479	I>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA166271236 rs73234771	479	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	480	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765942088 CA4480606	483	E>*		No	ClinGen ExAC gnomAD
rs1379928760 CA369263976	486	E>*		No	ClinGen gnomAD
TCGA novel	486	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754883865 CA4480608	487	K>N		No	ClinGen ExAC gnomAD
CA166271269 rs373614889	487	K>R		No	ClinGen ESP
CA369264007 rs1425001431	488	C>Y		No	ClinGen gnomAD
CA369264024 rs1165016207	489	P>R		No	ClinGen gnomAD
TCGA novel	489	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1459600446 CA369264036	490	M>T		No	ClinGen gnomAD
rs1393206719 CA369264030	490	M>V		No	ClinGen gnomAD
CA369264642 CA369264645 rs1279476324	493	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA369264643 rs1279476324	493	G>W		No	ClinGen TOPMed gnomAD
CA4480641 rs769087528	494	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs774709000 CA4480642	495	E>D		No	ClinGen ExAC gnomAD
rs943830784 CA166273272	497	V>A		No	ClinGen TOPMed gnomAD
TCGA novel	497	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4480643 rs755430693	498	P>R		No	ClinGen ExAC gnomAD
rs757578630 CA166273279	498	P>T		No	ClinGen TOPMed gnomAD
rs113753588 CA166273281	499	E>G		No	ClinGen Ensembl
CA4480644 rs770519813	500	T>A		No	ClinGen ExAC TOPMed gnomAD
CA4480645 rs571155077	500	T>M		No	ClinGen 1000Genomes ExAC gnomAD
CA369264749 rs1480498267	502	C>R		No	ClinGen gnomAD
CA369264774 rs1562908234	503	E>D		No	ClinGen Ensembl
CA4480649 rs373690551	505	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA4480651 rs751434371	509	M>I		No	ClinGen ExAC gnomAD
CA369264848 rs1400320830	509	M>V		No	ClinGen gnomAD
rs757119206 CA4480652	511	Y>H		No	ClinGen ExAC gnomAD
CA369264871 rs757119206	511	Y>N		No	ClinGen ExAC gnomAD
rs750715470 CA4480654	513	L>F		No	ClinGen ExAC gnomAD
CA4480655 COSM1085465 rs756286396	514	P>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs533466869	518	I>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1236181652 CA369264978	518	I>L		No	ClinGen gnomAD
rs1236181652 CA369264977	518	I>V		No	ClinGen gnomAD
rs750122365 CA4480676	519	A>T		No	ClinGen ExAC gnomAD
CA4480680 rs199589575	526	A>T		No	ClinGen ExAC gnomAD
CA369265031 rs1437777358	527	A>T		No	ClinGen gnomAD
CA4480681 rs778936957	527	A>V		No	ClinGen ExAC TOPMed gnomAD
rs200953224 CA4480682	528	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA4480684 rs778202089	529	P>L		No	ClinGen ExAC gnomAD
rs1166678622 CA369265047	530	T>I		No	ClinGen TOPMed
CA369265060 rs1168295295	532	K>R		No	ClinGen gnomAD
rs747277573 CA4480685	538	I>L		No	ClinGen ExAC gnomAD
rs747277573 CA369265098	538	I>V		No	ClinGen ExAC gnomAD
CA4480686 rs769519508	539	N>S		No	ClinGen ExAC TOPMed gnomAD
rs937266337 CA166274225	543	D>N		No	ClinGen Ensembl
TCGA novel	543	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4480688 rs748927719	544	V>I		No	ClinGen ExAC gnomAD
rs200479904 CA4480689	546	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4480691 rs183244351	550	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4480690 rs773998222	550	P>T		No	ClinGen ExAC gnomAD
rs1210236356 CA369265193	551	I>F		No	ClinGen TOPMed gnomAD
rs772075490 CA4480711	551	I>T		No	ClinGen ExAC gnomAD
CA166274822 rs935816745	552	T>I		No	ClinGen TOPMed
CA369265204 rs1385788896	553	V>I		No	ClinGen TOPMed
CA4480712 rs773060629	554	L>F		No	ClinGen ExAC TOPMed
CA4480713 rs190837993	556	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4480714 rs766216195	558	K>E		No	ClinGen ExAC TOPMed gnomAD
CA369265249 rs1194564203	560	G>S		No	ClinGen gnomAD
rs759758349 CA4480716	562	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA369265269 rs149074684	563	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs149074684 CA4480717	563	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA369265288 rs1369618200	565	R>S		No	ClinGen TOPMed
CA369265290 rs1303008982	566	H>Y		No	ClinGen Ensembl
rs1453787843 CA369265305	568	E>K		No	ClinGen TOPMed gnomAD
TCGA novel	570	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369265324 rs1168000461	570	I>T		No	ClinGen gnomAD
CA4480720 rs764213751	570	I>V		No	ClinGen ExAC
CA4480721 rs752064471	571	V>I		No	ClinGen ExAC gnomAD
rs1453878241 CA369265340	573	S>G		No	ClinGen gnomAD
CA166274942 rs138707632	578	L>R		No	ClinGen ESP
rs370372309 CA4480723	580	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1219198709 CA369265402	583	K>R		No	ClinGen gnomAD
CA4480725 rs142740319	586	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750736858 CA166274970	589	H>R		No	ClinGen Ensembl
rs1226403729 CA369265457	591	Y>H		No	ClinGen TOPMed
CA4480740 rs62489088	596	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1234489367 CA369265518	597	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs147388296 CA166281079	599	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA gnomAD
rs750851339 CA4480742	599	H>Y		No	ClinGen ExAC
CA4480744 rs201889907	601	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA369265541 rs201889907	601	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752346455 CA4480745	605	C>R		No	ClinGen ExAC gnomAD
rs758061661 CA4480746	605	C>Y		No	ClinGen ExAC gnomAD
rs201073196 CA4480748	614	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA369265750 rs1343790767	615	Q>E		No	ClinGen TOPMed
rs1281786678 CA369265797	617	I>V		No	ClinGen TOPMed
rs781065705 CA4480750	620	Y>*		No	ClinGen ExAC gnomAD
CA4480751 rs745785530	621	I>V		No	ClinGen ExAC gnomAD
rs1257185821 CA369265946	623	A>V		No	ClinGen TOPMed gnomAD
rs769536465 CA4480752	624	K>N		No	ClinGen ExAC gnomAD
TCGA novel	625	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	626	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1416708523 CA369266013	626	S>T		No	ClinGen TOPMed gnomAD
rs796252750 CA166283107	627	I>F		No	ClinGen Ensembl
rs61746947 CA4480765	629	V>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA369266621 rs1440328749	629	V>F		No	ClinGen TOPMed gnomAD
CA369266619 rs1440328749	629	V>I		No	ClinGen TOPMed gnomAD
rs376194870 CA4480766	632	Y>C		No	ClinGen ESP ExAC
CA4480767 rs141655777	634	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA166283139 rs764402407	638	Q>*		No	ClinGen Ensembl
rs1467647526 CA369266688	639	D>A		No	ClinGen TOPMed
CA369266703 rs1455999079	641	P>L		No	ClinGen TOPMed gnomAD
rs150681232 CA166283149	641	P>S		No	ClinGen ESP
rs1431489685 CA369266713	643	L>I		No	ClinGen TOPMed
CA4480771 rs779730006	643	L>P		No	ClinGen ExAC gnomAD
CA166283170 rs1039598549	644	T>I		No	ClinGen TOPMed
rs1412849400 CA369266724	645	T>A		No	ClinGen gnomAD
CA369266726 rs1192016323	645	T>I		No	ClinGen TOPMed
rs370580251 CA4480772	646	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA166283177 rs996274795	648	L>Q		No	ClinGen TOPMed
CA369268203 rs1279673197	652	D>A		No	ClinGen gnomAD
CA369268200 rs1369136017	652	D>H		No	ClinGen TOPMed
CA369268210 rs79120902	653	N>S		No	ClinGen ExAC TOPMed gnomAD
CA4480790 rs79120902	653	N>T		No	ClinGen ExAC TOPMed gnomAD
rs1226253233 CA369268241	655	Q>H		No	ClinGen TOPMed gnomAD
CA4480792 rs778835983	658	W>*		No	ClinGen ExAC gnomAD
CA369268346 rs138192591	661	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs138192591 CA4480793	661	L>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1450442983 CA369268367	662	F>C		No	ClinGen gnomAD
rs140001174 CA4480794	662	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4480796 rs747062476	664	C>F		No	ClinGen ExAC gnomAD
CA369268399 rs747062476	664	C>Y		No	ClinGen ExAC gnomAD
rs1472377617 CA369268411	665	I>L		No	ClinGen TOPMed gnomAD
CA369268415 rs1472377617	665	I>V		No	ClinGen TOPMed gnomAD
CA4480797 rs564669303	666	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA166291378 rs559694064	673	K>E		No	ClinGen Ensembl
rs1388450987 CA369268484	675	T>S		No	ClinGen gnomAD
rs775765912 CA4480801	676	K>R		No	ClinGen ExAC gnomAD
CA4480802 rs761468950	677	W>C		No	ClinGen ExAC gnomAD
rs767112108 CA4480803	679	H>Q		No	ClinGen ExAC gnomAD
CA166291395 rs998423622	679	H>Y		No	ClinGen TOPMed
rs890055303 CA166291404	680	S>T		No	ClinGen TOPMed gnomAD
rs540876294 CA4480805	681	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749937030 COSM744573 CA4480804	681	R>W	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4480806 rs765787750	682	T>I		No	ClinGen ExAC TOPMed gnomAD
rs200116230 CA4480807	683	M>R		No	ClinGen 1000Genomes ExAC gnomAD
CA369268532 rs200116230	683	M>T		No	ClinGen 1000Genomes ExAC gnomAD
CA369269006 rs1200030833	684	M>I		No	ClinGen gnomAD
CA4480822 rs551466468	686	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA369269080 rs1430041333	689	K>I		No	ClinGen gnomAD
CA166293099 rs942385688 COSM1085467	690	S>L	oesophagus Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs942385688 CA369269099	690	S>W		No	ClinGen TOPMed
rs1359291656 CA369269190	696	R>P		No	ClinGen gnomAD
rs1359291656 CA369269187	696	R>Q		No	ClinGen gnomAD
rs760234230 COSM203669 CA4480825	696	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA4480826 rs765977926	699	K>E		No	ClinGen ExAC gnomAD
rs753215324 CA4480827	700	V>A		No	ClinGen ExAC TOPMed gnomAD
rs759556468 CA4480828	701	K>E		No	ClinGen ExAC gnomAD
CA4480830 rs146356938	703	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA4480829 rs146356938	703	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs758306247 CA4480831	704	M>I		No	ClinGen ExAC gnomAD
rs931123668 CA166293131	704	M>L		No	ClinGen Ensembl
rs1284598788 CA369269313	704	M>T		No	ClinGen TOPMed
rs1365097768 CA369269354	706	Q>H		No	ClinGen gnomAD
CA4480833 rs751877170	708	Y>C		No	ClinGen ExAC gnomAD
rs777688189 CA4480832	708	Y>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4480835 rs747732675	709	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	711	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA166293195 rs758067987	711	K>Q		No	ClinGen Ensembl
CA369269517 rs1209088233	717	T>A		No	ClinGen gnomAD
CA4480837 rs756648513	718	K>M		No	ClinGen ExAC gnomAD
rs1372125541 CA369269560	719	Y>*		No	ClinGen TOPMed
rs749775543 CA4480839 COSM203670	722	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1425789181 CA369269583 COSM1085468	722	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA369269585 rs1425789181	722	R>L		No	ClinGen TOPMed gnomAD
CA166293257 rs569814308	726	K>R		No	ClinGen ExAC TOPMed gnomAD
CA4480843 rs569814308	726	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1431570270 CA369269631	728	N>K		No	ClinGen TOPMed
rs776224236 CA4480844	729	M>K		No	ClinGen ExAC TOPMed gnomAD
rs1013717394 CA166293264	729	M>V		No	ClinGen TOPMed
CA369269652 rs1388293213	731	T>I		No	ClinGen gnomAD
rs377126192 CA4480846	732	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA369269671 rs144282672	734	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1368944933 CA369269668	734	A>T		No	ClinGen gnomAD
rs144282672 CA4480847	734	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs762969190 CA4480848	735	I>V		No	ClinGen ExAC gnomAD
TCGA novel	736	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369269691 rs1331474222	737	Q>R		No	ClinGen gnomAD
CA369269695 rs1229304447	738	K>Q		No	ClinGen gnomAD
rs763955389 CA4480849	739	V>A		No	ClinGen ExAC gnomAD
COSM203671 CA369269709 rs1221943301	740	R>C	oesophagus large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA4480851 rs757522339	740	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4480852 rs767596040	741	H>L		No	ClinGen ExAC gnomAD
CA4480853 rs369571095	742	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA4480854 COSM269137 rs372192438	742	R>H	lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs372192438 CA4480855	742	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1252123666 CA369269725	743	M>V		No	ClinGen gnomAD
rs376867444 CA369269739	744	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA4480858 rs755407996	745	D>N		No	ClinGen ExAC TOPMed gnomAD
CA4480857 rs755407996	745	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA4480859 rs748410027	747	W>*		No	ClinGen ExAC gnomAD
CA369269772 rs1167411593	749	Y>C		No	ClinGen gnomAD
rs1455932182 CA369269769	749	Y>H		No	ClinGen gnomAD
CA4480861 rs776184667	750	G>R		No	ClinGen ExAC gnomAD
rs1285021920 CA369269859	753	I>V		No	ClinGen gnomAD
CA166294911 rs149125659	759	D>E		No	ClinGen ESP gnomAD
CA4480880 rs769514377	759	D>G		No	ClinGen ExAC gnomAD
rs1342847001 CA369269901	759	D>N		No	ClinGen gnomAD
rs779733069 CA4480881	761	Q>*		No	ClinGen ExAC gnomAD
rs760981516	764	E>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1429418968 CA369269945	765	C>R		No	ClinGen gnomAD
CA166294927 rs902465400	768	R>S		No	ClinGen gnomAD
rs267601282 CA166294936	769	A>V		No	ClinGen Ensembl
rs201763574 CA4480886	771	I>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201763574 CA4480885	771	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA369270011 rs1584978134	772	E>G		No	ClinGen Ensembl
TCGA novel	776	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1085470 CA4480887 rs376069671	777	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs199633795 CA4480888	777	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1388342492 CA369270086	778	R>C		No	ClinGen TOPMed gnomAD
COSM203673 CA4480889 rs772928723	778	R>H	lung large_intestine Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA4480890 rs772928723	778	R>L		No	ClinGen ExAC TOPMed gnomAD
rs759573840 CA4480893	779	Y>*		No	ClinGen ExAC gnomAD
CA4480891 rs775620376	779	Y>N		No	ClinGen ExAC gnomAD
rs753946549 CA4480892	779	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs765335204 CA4480895	782	P>S		No	ClinGen ExAC gnomAD
rs765335204 CA4480894 COSM239796	782	P>T	prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs778296565 CA4480897	785	S>T		No	ClinGen ExAC gnomAD
CA369270224 rs1295333785	788	S>L		No	ClinGen gnomAD
TCGA novel	789	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369270236 rs1281255298	789	P>L		No	ClinGen TOPMed
CA369270230 rs1346424013	789	P>S		No	ClinGen gnomAD
rs779894402 CA4480901	792	N>D		No	ClinGen ExAC gnomAD
CA166295059 rs778485995 CA4480904	795	Q>H		No	ClinGen ExAC gnomAD
CA166295052 rs768111730	795	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA4480903 rs768111730	795	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA4480906 rs748044230	796	S>C		No	ClinGen ExAC gnomAD
CA4480905 rs748044230	796	S>G		No	ClinGen ExAC gnomAD
CA369270329 rs1307717962	796	S>N		No	ClinGen TOPMed
CA4480908 rs760420426	797	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs866536114 CA166295097	799	G>K		No	ClinGen Ensembl
rs776886226 CA4480910	803	D>N		No	ClinGen ExAC gnomAD
CA166295109 rs756691522	805	P>R		No	ClinGen Ensembl
rs1361099529 CA369270433	805	P>S		No	ClinGen TOPMed
rs1036562397 CA166295113	806	E>G		No	ClinGen TOPMed
rs1036562397 CA369270448	806	E>V		No	ClinGen TOPMed
CA166295127 rs151001352	807	D>G		No	ClinGen ESP
rs952115982 CA166295126	807	D>Y		No	ClinGen Ensembl
rs1156798544 CA369270475	808	F>C		No	ClinGen TOPMed
rs752755558 CA4480913	809	H>R		No	ClinGen ExAC TOPMed gnomAD
rs140895319 CA4480912	809	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs763392831 CA4480914	810	Y>C		No	ClinGen ExAC gnomAD
CA166295148 rs984813800	810	Y>N		No	ClinGen TOPMed gnomAD
TCGA novel	812	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4480916 rs200570394	813	E>G		No	ClinGen ExAC gnomAD
CA369270538 rs1268377668	813	E>K		No	ClinGen gnomAD
CA369270558 rs1303791985	814	L>P		No	ClinGen gnomAD
CA4480918 rs767983960	815	W>*		No	ClinGen ExAC
TCGA novel	815	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	816	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1453877332 CA369270582	816	L>R		No	ClinGen TOPMed gnomAD
rs904822742 CA166295190	817	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1246262705 CA369270600	818	R>G		No	ClinGen gnomAD
CA369270605 rs1479504622	818	R>T		No	ClinGen gnomAD
TCGA novel	819	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1165866707 CA369270637	820	V>G		No	ClinGen gnomAD
TCGA novel	822	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4480922 rs778303676	825	I>M		No	ClinGen ExAC gnomAD
CA4480921 rs754596779	825	I>V		No	ClinGen ExAC gnomAD
rs747642407 CA4480923	827	W>*		No	ClinGen ExAC gnomAD
rs758358950 CA4480924	831	L>F		No	ClinGen ExAC gnomAD
rs150174508 CA166295209	832	Q>H		No	ClinGen ESP
rs777725667 CA4480925	832	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs746925664 CA4480926	833	N>S		No	ClinGen ExAC TOPMed gnomAD
rs770768529 CA4480928	834	H>D		No	ClinGen ExAC
TCGA novel	834	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q9ULQ0

1 regional properties for Q9ULQ0

Type	Name	Position	InterPro Accession
domain	Focadhesin/RST, DUF3730	490 - 714	IPR022542

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm	Enriched in lamellipodia
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
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.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

3 GO annotations of biological process

Name	Definition
cell migration	The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms.
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.
regulation of cell shape	Any process that modulates the surface configuration of a cell.

6 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P53917	FAR11	Factor arrest protein 11	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q0P5J8	STRIP1	Striatin-interacting protein 1	Bos taurus (Bovine)	PR
Q5VSL9	STRIP1	Striatin-interacting protein 1	Homo sapiens (Human)	PR
Q8C079	Strip1	Striatin-interacting protein 1	Mus musculus (Mouse)	PR
Q8C9H6	Strip2	Striatin-interacting proteins 2	Mus musculus (Mouse)	PR
Q803T2	strip1	Striatin-interacting protein 1 homolog	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MEDPAAPGTG	GPPANGNGNG	GGKGKQAAPK	GREAFRSQRR	ESEGSVDCPT	LEFEYGDADG
70	80	90	100	110	120
HAAELSELYS	YTENLEFTNN	RRCFEEDFKT	QVQGKEWLEL	EEDAQKAYIM	GLLDRLEVVS
130	140	150	160	170	180
RERRLKVARA	VLYLAQGTFG	ECDSEVDVLH	WSRYNCFLLY	QMGTFSTFLE	LLHMEIDNSQ
190	200	210	220	230	240
ACSSALRKPA	VSIADSTELR	VLLSVMYLMV	ENIRLERETD	PCGWRTARET	FRTELSFSMH
250	260	270	280	290	300
NEEPFALLLF	SMVTKFCSGL	APHFPIKKVL	LLLWKVVMFT	LGGFEHLQTL	KVQKRAELGL
310	320	330	340	350	360
PPLAEDSIQV	VKSMRAASPP	SYTLDLGESQ	LAPPPSKLRG	RRGSRRQLLT	KQDSLDIYNE
370	380	390	400	410	420
RDLFKTEEPA	TEEEEESAGD	GERTLDGELD	LLEQDPLVPP	PPSQAPLSAE	RVAFPKGLPW
430	440	450	460	470	480
APKVRQKDIE	HFLEMSRNKF	IGFTLGQDTD	TLVGLPRPIH	ESVKTLKQHK	YISIADVQIK
490	500	510	520	530	540
NEEELEKCPM	SLGEEVVPET	PCEILYQGML	YSLPQYMIAL	LKILLAAAPT	SKAKTDSINI
550	560	570	580	590	600
LADVLPEEMP	ITVLQSMKLG	IDVNRHKEII	VKSISTLLLL	LLKHFKLNHI	YQFEYVSQHL
610	620	630	640	650	660
VFANCIPLIL	KFFNQNILSY	ITAKNSISVL	DYPCCTIQDL	PELTTESLEA	GDNSQFCWRN
670	680	690	700	710	720
LFSCINLLRL	LNKLTKWKHS	RTMMLVVFKS	APILKRALKV	KQAMLQLYVL	KLLKLQTKYL
730	740	750	760	770	780
GRQWRKSNMK	TMSAIYQKVR	HRMNDDWAYG	NDIDARPWDF	QAEECTLRAN	IEAFNSRRYD
790	800	810	820	830
RPQDSEFSPV	DNCLQSVLGQ	RLDLPEDFHY	SYELWLEREV	FSQPICWEEL	LQNH