AiPD: Autoinhibited Protein Database

Q86VP1

Gene name	TAX1BP1 (T6BP, PRO0105)
Protein name	Tax1-binding protein 1
Names	TRAF6-binding protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8887
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

87-306 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

87-306 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

9 structures for Q86VP1

Entry ID	Method	Resolution	Chain	Position	Source
2M7Q	NMR	-	A	725-789	PDB
4BMJ	X-ray	275 A	A/B/C/D/E/F/G/H/I/J/K	725-789	PDB
4NLH	X-ray	190 A	A/B	15-147	PDB
4Z4K	X-ray	280 A	A/B	725-781	PDB
4Z4M	X-ray	215 A	A/B	755-781	PDB
5AAS	NMR	-	A	722-784	PDB
5YT6	X-ray	150 A	B/D/F/H	754-787	PDB
5Z7G	X-ray	230 A	A/B	1-121	PDB
AF-Q86VP1-F1	Predicted				AlphaFoldDB

544 variants for Q86VP1

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
TCGA novel	2	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768347344 CA156398161	7	V>I		No	ClinGen gnomAD
rs1030965909 CA156398162	8	P>T		No	ClinGen TOPMed
CA367233294 rs1477065096	11	T>A		No	ClinGen gnomAD
rs1488599378 CA367233302	12	S>Y		No	ClinGen TOPMed
CA367233309 rs1174585522	13	N>T		No	ClinGen gnomAD
TCGA novel	15	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367233331 rs1256712517	16	H>R		No	ClinGen TOPMed
rs754257315 CA4199415	18	I>T		No	ClinGen ExAC TOPMed gnomAD
CA4199414 rs767150987	18	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1410921691 CA367233365	21	N>T		No	ClinGen gnomAD
rs1008495644 CA156398163	23	A>V		No	ClinGen TOPMed
CA367233385 rs1316466676	24	K>R		No	ClinGen TOPMed
CA4199416 rs755309871	25	S>R		No	ClinGen ExAC gnomAD
TCGA novel	27	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4199417 rs779433335	28	P>A		No	ClinGen ExAC TOPMed gnomAD
CA156398165 rs200518839	28	P>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA156398164 rs200518839	28	P>R		No	ClinGen 1000Genomes TOPMed gnomAD
CA156398166 rs964271892	29	N>D		No	ClinGen TOPMed gnomAD
rs1397867615 CA367233416	29	N>S		No	ClinGen TOPMed
CA367233429 rs1583664662	31	H>P		No	ClinGen Ensembl
CA367233476 rs1225906802	37	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs758522444 CA4199419	41	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA367233514 rs1265159514	43	H>R		No	ClinGen gnomAD
rs777650811 CA4199420	43	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	44	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4199422 rs771118660	45	H>P		No	ClinGen ExAC gnomAD
rs1236844016 CA367233531	46	P>A		No	ClinGen gnomAD
CA4199423 rs781544274	46	P>L		No	ClinGen ExAC TOPMed gnomAD
CA367233536 rs1562695877	47	K>E		No	ClinGen Ensembl
CA4199424 rs745699082	50	V>I		No	ClinGen ExAC gnomAD
CA156398167 rs975570239	54	K>Q		No	ClinGen TOPMed
CA367233589 rs1167126944	54	K>R		No	ClinGen gnomAD
rs7809260 VAR_051415 CA4199463	58	S>N		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4199464 rs778743083	61	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1189332165 CA367233720	61	R>H		No	ClinGen gnomAD
CA367233740 rs1284879084	63	Y>D		No	ClinGen TOPMed
rs1215987454 CA367233776	65	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1160655633 CA367233785	66	F>V		No	ClinGen gnomAD
CA156399167 rs11540484	70	P>T		No	ClinGen Ensembl
rs574704004 CA156399168	71	M>V		No	ClinGen TOPMed gnomAD
rs567195430 CA4199467	74	H>R		No	ClinGen 1000Genomes ExAC gnomAD
CA156399169 rs930129266	74	H>Y		No	ClinGen TOPMed
CA4199468 rs746510980	75	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs563210945 CA156399170	76	V>A		No	ClinGen Ensembl
CA4199469 rs770623110	77	E>A		No	ClinGen ExAC gnomAD
CA367233931 rs1583673463	77	E>D		No	ClinGen Ensembl
rs1415143000 CA367233955	80	T>A		No	ClinGen gnomAD
rs1307402650 CA367233963	81	V>I		No	ClinGen gnomAD
CA4199472 rs769016578	82	N>S		No	ClinGen ExAC gnomAD
CA367234005 rs1562702127	84	V>L		No	ClinGen Ensembl
rs1226654093 CA367234020	85	L>P		No	ClinGen gnomAD
rs758392094 CA4199484	90	Y>C		No	ClinGen ExAC
rs1299550683 CA367234429	96	D>G		No	ClinGen gnomAD
CA367234460 rs1562707148	100	Y>F		No	ClinGen Ensembl
CA573761734 rs1274310316	104	Y>*		No	ClinGen gnomAD
rs770436363 CA4199487	104	Y>F		No	ClinGen ExAC gnomAD
COSM1088915 CA4199489 rs367927936	105	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	106	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774922840 CA4199491	107	H>R		No	ClinGen ExAC TOPMed gnomAD
rs762253510 CA4199492	108	K>R		No	ClinGen ExAC gnomAD
rs1562707229 CA367234542	112	R>C		No	ClinGen Ensembl
CA4199493 rs772753250	112	R>H		No	ClinGen ExAC gnomAD
rs1187721630 CA367234550	113	G>E		No	ClinGen gnomAD
CA4199495 rs766755546	116	T>I		No	ClinGen ExAC TOPMed gnomAD
rs773821142 CA4199494	116	T>S		No	ClinGen ExAC gnomAD
rs766428683 CA4199496	121	R>*		No	ClinGen ExAC gnomAD
CA4199497 rs751921028	121	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4199499 rs372106777	123	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA156400031 rs1026723497	126	V>I		No	ClinGen gnomAD
rs201587778 CA4199502	127	E>D		No	ClinGen ExAC gnomAD
rs199836430 CA4199503	128	E>*		No	ClinGen ExAC gnomAD
rs1292715749 CA367234640	128	E>G		No	ClinGen gnomAD
CA367234656 rs1218755597	131	T>A		No	ClinGen gnomAD
rs1562707326 CA367234660	131	T>I		No	ClinGen Ensembl
TCGA novel	132	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756731353 CA4199505	134	D>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	134	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4199506 rs780687131	135	E>V		No	ClinGen ExAC gnomAD
CA156400033 rs952678430	138	S>F		No	ClinGen TOPMed gnomAD
CA367234706 rs1235355314	138	S>T		No	ClinGen TOPMed gnomAD
CA367234709 rs952678430	138	S>Y		No	ClinGen TOPMed gnomAD
rs1245793154 CA367234749	144	T>S		No	ClinGen gnomAD
rs745365488 CA4199508	146	K>I		No	ClinGen ExAC gnomAD
rs144279541 CA4199509	148	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA367234818 rs1583687262	153	K>R		No	ClinGen Ensembl
rs1402084690 CA367234837	156	K>E		No	ClinGen TOPMed
CA4199534 rs758843116	158	M>V		No	ClinGen ExAC TOPMed gnomAD
rs778212709 CA4199535	159	K>E		No	ClinGen ExAC gnomAD
rs771521683 CA4199538	161	K>I		No	ClinGen ExAC gnomAD
CA4199540 rs143497095	162	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA367234881 rs143497095	162	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA4199541 rs143497095	162	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs764296726 CA4199545	166	K>Q		No	ClinGen ExAC gnomAD
rs925341163 CA156400448	168	I>T		No	ClinGen TOPMed gnomAD
rs958083586 CA156400450	169	A>D		No	ClinGen Ensembl
rs772744806 CA156400449	169	A>T		No	ClinGen Ensembl
CA4199549 rs34347226	170	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1450217 rs34347226 CA4199548	170	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	172	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367234957 rs1284740099	174	E>Q		No	ClinGen TOPMed
CA4199550 rs755669219	175	T>R		No	ClinGen ExAC gnomAD
CA4199551 rs765925268	176	A>E		No	ClinGen ExAC gnomAD
rs754741434 CA4199553	178	L>H		No	ClinGen ExAC gnomAD
CA367234989 rs1280713405	179	R>Q		No	ClinGen gnomAD
rs778689032 CA4199554	182	V>I		No	ClinGen ExAC gnomAD
rs1202989335 CA367235046	187	R>T		No	ClinGen gnomAD
CA4199556 rs368515652	189	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1218458298 CA367235059	189	L>V		No	ClinGen TOPMed
CA4199557 rs781735230	191	H>R		No	ClinGen ExAC TOPMed gnomAD
rs746303018 CA4199559	194	E>K		No	ClinGen ExAC gnomAD
rs769867581 CA4199560	195	R>G		No	ClinGen ExAC gnomAD
rs1166716757 CA367235129	198	Q>R		No	ClinGen gnomAD
CA367235137 rs1363919201	199	L>R		No	ClinGen TOPMed
rs749358430 CA4199562	200	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA367235150 rs1410050435	201	A>V		No	ClinGen gnomAD
CA4199563 rs768913934	203	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA4199564 rs776170428	204	K>N		No	ClinGen ExAC TOPMed gnomAD
rs955919351 CA156402126	205	G>D		No	ClinGen TOPMed gnomAD
rs779216935 CA4199584	207	T>A		No	ClinGen ExAC TOPMed gnomAD
rs748256886 CA4199585	207	T>N		No	ClinGen ExAC gnomAD
rs1022244141 CA156402128	210	T>A		No	ClinGen Ensembl
CA367235583 rs1264257477	210	T>I		No	ClinGen gnomAD
rs772944316 CA4199587	211	Q>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	214	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1416316459 CA367235636	217	N>S		No	ClinGen gnomAD
rs760530027 CA4199588	219	E>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	225	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367235696 rs1451124580	225	S>R		No	ClinGen gnomAD
TCGA novel	226	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1290234824 CA367235707	226	D>G		No	ClinGen gnomAD
rs1385459357 CA367235721	228	T>I		No	ClinGen gnomAD
rs144826085 CA156402129	231	A>G		No	ClinGen ESP gnomAD
rs752399931 CA4199593	232	H>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	232	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367235748 rs762579686	233	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs762579686 CA4199595	233	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1316590860 CA367235752	233	Q>H		No	ClinGen TOPMed gnomAD
rs921665761 CA156402130	233	Q>R		No	ClinGen TOPMed
rs763790831 CA4199596	234	L>P		No	ClinGen ExAC TOPMed gnomAD
rs750837337 CA4199597	235	E>G		No	ClinGen ExAC gnomAD
CA4199598 rs756438020	237	D>N		No	ClinGen ExAC gnomAD
CA367235778 rs1200240156	237	D>V		No	ClinGen gnomAD
CA367235774 rs756438020	237	D>Y		No	ClinGen ExAC gnomAD
CA4199601 rs755060245	238	I>T		No	ClinGen ExAC TOPMed gnomAD
rs754294097 CA4199600	238	I>V		No	ClinGen ExAC TOPMed gnomAD
CA4199602 rs778787998	239	V>L		No	ClinGen ExAC gnomAD
rs748251915 CA4199603	240	S>L		No	ClinGen ExAC gnomAD
rs148512801 CA4199605	243	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs537613263 CA4199604	243	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA4199606 rs746834585	244	K>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	245	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs559471004 CA156402131	246	I>T		No	ClinGen gnomAD
CA4199607 rs770804708	246	I>V		No	ClinGen ExAC TOPMed
rs1415285385 CA573761748	247	E>AYL*		No	ClinGen gnomAD
CA367235836 rs1307307112	247	E>G		No	ClinGen gnomAD
rs745734036 CA4199609 COSM263975	251	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1261967122 CA367235879	253	D>G		No	ClinGen gnomAD
rs769765966 CA4199610	253	D>H		No	ClinGen ExAC gnomAD
CA367235883 rs376669585	254	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA4199611 rs376669585	254	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA367235923 rs1299904836	257	D>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1460534602 CA367235919	257	D>N		No	ClinGen TOPMed gnomAD
rs1374357767 CA367235925	258	K>Q		No	ClinGen gnomAD
rs1440493926 CA367235941	260	K>E		No	ClinGen gnomAD
rs778165777 CA4199626	260	K>R		No	ClinGen ExAC TOPMed gnomAD
CA156402138 rs376415438	262	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA4199628 rs376415438	262	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA156402139 rs956077525	264	H>R		No	ClinGen TOPMed gnomAD
rs745646029 CA4199630	265	E>K		No	ClinGen ExAC gnomAD
CA4199632 rs775468221	268	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA4199633 rs142832236	269	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4199634 rs371052683 COSM1313006	270	E>Q	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA367236017 rs1184171686	271	C>G		No	ClinGen TOPMed
CA156402140 rs199893082	275	T>I		No	ClinGen 1000Genomes
rs760585663 CA4199635	278	D>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	279	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA156402141 rs373589178	280	K>E		No	ClinGen ESP TOPMed
TCGA novel	281	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767148786 CA4199637	284	K>N		No	ClinGen ExAC gnomAD
rs1317205134 CA367069844	285	V>A		No	ClinGen gnomAD
CA367069904 rs1255476412	290	T>I		No	ClinGen TOPMed
rs764685350 CA4199662	292	I>M		No	ClinGen ExAC gnomAD
rs1216157609 CA367069963	296	K>Q		No	ClinGen gnomAD
CA155877399 rs954748645	298	M>I		No	ClinGen Ensembl
CA155877446 rs981981804	304	L>S		No	ClinGen TOPMed
rs964756416 CA155877466	307	L>F		No	ClinGen Ensembl
VAR_026286 rs11540483 CA4199666	307	L>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs141015886 CA155877464	307	L>S		No	ClinGen ESP TOPMed gnomAD
rs750607494 CA4199667	308	D>G		No	ClinGen ExAC gnomAD
rs755874077 CA4199668	313	S>G		No	ClinGen ExAC TOPMed gnomAD
CA4199669 rs779831363	313	S>N		No	ClinGen ExAC gnomAD
CA4199671 rs754963979	314	V>M		No	ClinGen ExAC TOPMed gnomAD
CA367070318 rs778797677	316	T>P		No	ClinGen ExAC TOPMed gnomAD
COSM600759 rs550822476 CA155877477	316	T>S	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes
CA4199672 rs778797677 COSM600759	316	T>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4199674 rs771524666	317	H>R		No	ClinGen ExAC gnomAD
rs184528287 CA4199673	317	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA367070360 rs1402502898	319	K>Q		No	ClinGen TOPMed
CA4199675 rs777307635	320	E>K		No	ClinGen ExAC gnomAD
rs1254776701 CA367070435	322	I>T		No	ClinGen gnomAD
rs748161447 CA4199676	323	G>V		No	ClinGen ExAC gnomAD
TCGA novel	325	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA155877497 rs914893762	326	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs763206199 CA4199679	328	C>R		No	ClinGen ExAC TOPMed gnomAD
CA155877498 rs868175327	329	L>S		No	ClinGen Ensembl
CA4199680 rs143687148	336	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	337	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1181098020 CA367070745	338	T>A		No	ClinGen gnomAD
CA367070760 rs1471253855	339	F>C		No	ClinGen gnomAD
CA4199682 rs762004429	342	T>A		No	ClinGen ExAC gnomAD
CA367070809 rs1394896981	343	T>A		No	ClinGen gnomAD
rs1452947430 CA367070813	343	T>I		No	ClinGen TOPMed gnomAD
rs1452947430 CA367070816	343	T>N		No	ClinGen TOPMed gnomAD
CA367070810 rs1394896981	343	T>S		No	ClinGen gnomAD
rs1391522248 CA367070829	345	S>G		No	ClinGen Ensembl
rs1215972189 CA367072032	348	D>G		No	ClinGen TOPMed gnomAD
CA367072060 rs1268539816	350	C>F		No	ClinGen gnomAD
TCGA novel	353	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs888024659 CA155880560	354	E>D		No	ClinGen gnomAD
rs1384601351 CA367072240	356	L>F		No	ClinGen TOPMed
rs377033381 CA4199710	357	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA4199711 rs751120718	357	R>H		No	ClinGen ExAC TOPMed gnomAD
CA4199712 rs756684022	358	K>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	359	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4199714 rs745458426	360	E>G		No	ClinGen ExAC gnomAD
CA4199715 rs755396688	361	E>G		No	ClinGen ExAC gnomAD
TCGA novel	362	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1583711920 CA367072424	362	Q>R		No	ClinGen Ensembl
rs905688332 CA155880618	365	A>E		No	ClinGen TOPMed gnomAD
rs537645332 CA155880631	366	T>S		No	ClinGen TOPMed gnomAD
CA4199717 rs748509003	367	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1340986407 CA367072556 COSM287688	367	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	370	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747140420 CA4199720	375	K>E		No	ClinGen ExAC TOPMed gnomAD
CA4199721 rs770864943	378	S>T		No	ClinGen ExAC gnomAD
CA4199722 rs370318377	379	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs759823931 CA4199723	380	A>G		No	ClinGen ExAC gnomAD
rs200041605 CA4199725	382	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200041605 CA4199724	382	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA155880710 rs979870030	383	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1254830196 CA367073659	384	R>*		No	ClinGen gnomAD
rs751405236 CA4199728	384	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA367073714 rs1308858723 CA367073715	385	D>E		No	ClinGen TOPMed
TCGA novel	385	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367073716 rs1362789520	386	R>*		No	ClinGen gnomAD
TCGA novel	386	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201012389 CA4199729	387	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs371768103 CA4199733	390	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA4199732 rs755887745	390	D>N		No	ClinGen ExAC gnomAD
rs923950559 CA155880795	390	D>V		No	ClinGen TOPMed
rs1310966344 CA367073838	391	L>M		No	ClinGen gnomAD
CA4199734 rs753148940	392	H>P		No	ClinGen ExAC gnomAD
rs200115275 CA4199735	393	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA367073933 rs1313713042	394	A>T		No	ClinGen TOPMed gnomAD
rs146488468 CA4199736	395	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA155880825 rs146488468	395	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA4199737 rs747410556	395	R>H		No	ClinGen ExAC TOPMed gnomAD
rs747410556 CA155880828	395	R>L		No	ClinGen ExAC TOPMed gnomAD
CA4199738 rs200880289	396	L>V		No	ClinGen ExAC TOPMed gnomAD
rs781310454 CA4199739	398	N>S		No	ClinGen ExAC gnomAD
CA4199741 rs770044144	399	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1486405940 CA367074114	400	K>Q		No	ClinGen TOPMed gnomAD
CA4199742 rs775651338	400	K>R		No	ClinGen ExAC gnomAD
rs768281146 CA4199744	401	V>L		No	ClinGen ExAC gnomAD
CA367074189 rs768281146	401	V>M		No	ClinGen ExAC gnomAD
CA367074229 rs1183497313	403	K>R		No	ClinGen gnomAD
CA4199745 rs774347911	404	Q>R		No	ClinGen ExAC TOPMed
rs761719822 CA4199746	405	L>V		No	ClinGen ExAC TOPMed gnomAD
rs767545902 CA4199747	406	A>V		No	ClinGen ExAC gnomAD
CA155880892 rs761332371	408	A>G		No	ClinGen Ensembl
CA367074402 rs1213815072	410	A>T		No	ClinGen TOPMed
CA4199748 rs749998662	410	A>V		No	ClinGen ExAC TOPMed gnomAD
CA4199749 rs760231567	413	K>E		No	ClinGen ExAC gnomAD
rs1223154013 CA367074593	417	M>L		No	ClinGen TOPMed
rs1223154013 CA367074604	417	M>V		No	ClinGen TOPMed
rs1036999849 CA155880916	418	K>N		No	ClinGen Ensembl
CA155880915 rs942312109	418	K>R		No	ClinGen Ensembl
CA4199751 rs753490218	419	K>N		No	ClinGen ExAC gnomAD
CA367074730 rs1311712835	421	Q>R		No	ClinGen gnomAD
CA4199770 rs764921604	422	D>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	423	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs555250244 CA367074974	426	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	426	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs555250244 CA4199771	426	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768038533 CA4199773	427	L>M		No	ClinGen ExAC gnomAD
rs558651859 CA4199774	427	L>P		No	ClinGen ExAC TOPMed gnomAD
CA367074981 rs768038533	427	L>V		No	ClinGen ExAC gnomAD
CA367075004 rs1277154073	428	E>Q		No	ClinGen TOPMed
rs114874327 CA155881585	429	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4199777 rs749371338	436	E>D		No	ClinGen ExAC gnomAD
rs755200023 CA4199778	440	L>F		No	ClinGen ExAC gnomAD
rs747927050 CA4199780	441	R>C		No	ClinGen ExAC TOPMed gnomAD
rs534603306 CA4199781	441	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs773295607 CA4199782	447	D>A		No	ClinGen ExAC gnomAD
CA4199784 rs770980578	451	E>Q		No	ClinGen ExAC TOPMed
TCGA novel	452	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367075518 rs1278237980	453	F>L		No	ClinGen gnomAD
CA4199785 rs776055202	456	C>*		No	ClinGen ExAC TOPMed gnomAD
rs1354239166 CA367075598	456	C>S	Variant assessed as Somatic; 4.7e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
VAR_035665	457	Q>R	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
CA367075638 rs1322176404	458	R>K		No	ClinGen gnomAD
rs1214728425 CA367075645	458	R>S		No	ClinGen gnomAD
CA367075746 rs1194255662	463	I>V		No	ClinGen TOPMed gnomAD
rs1474913706 CA367075805	466	L>F		No	ClinGen gnomAD
rs764829075 CA4199789	466	L>H		No	ClinGen ExAC TOPMed gnomAD
rs1474913706 CA367075803	466	L>V		No	ClinGen gnomAD
rs775163173 CA4199790	467	S>A		No	ClinGen ExAC TOPMed gnomAD
CA4199791 rs775163173	467	S>T		No	ClinGen ExAC TOPMed gnomAD
rs771033525 CA4199805	472	N>K		No	ClinGen ExAC TOPMed gnomAD
CA367076603 rs1378923136	472	N>S		No	ClinGen gnomAD
CA155882591 rs867015842	473	N>S		No	ClinGen TOPMed
rs745396277 CA4199807	474	N>D		No	ClinGen ExAC TOPMed
rs1302596721 CA573405717	474	N>S		No	ClinGen gnomAD
CA367076651 rs1394503608	475	N>T		No	ClinGen TOPMed
CA367076678 rs1345580678	477	F>V		No	ClinGen gnomAD
CA4199808 rs769294478	481	T>A		No	ClinGen ExAC TOPMed gnomAD
CA367076741 rs775012539	481	T>K		No	ClinGen ExAC TOPMed gnomAD
rs775012539 COSM746288 CA4199809	481	T>M	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs768281843 CA4199811	485	Q>*		No	ClinGen ExAC gnomAD
CA4199812 rs773612207	485	Q>H		No	ClinGen ExAC gnomAD
rs760992939 CA4199813	486	K>E		No	ClinGen ExAC gnomAD
CA4199814 rs766821675	486	K>R		No	ClinGen ExAC
rs754321424 CA4199815	487	V>M		No	ClinGen ExAC gnomAD
rs35469533 CA155882678	488	N>S		No	ClinGen Ensembl
rs759547346 CA4199816	489	D>H		No	ClinGen ExAC TOPMed gnomAD
CA367076867 rs1423685895	490	A>V		No	ClinGen TOPMed
rs75969039 CA4199817	495	D>A		No	ClinGen ExAC gnomAD
CA367076910 rs1583715106	495	D>N		No	ClinGen Ensembl
TCGA novel	495	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1195981536 CA367076928	496	P>S		No	ClinGen TOPMed
CA367076937 rs758745080	497	A>P		No	ClinGen ExAC TOPMed gnomAD
rs758745080 CA4199819	497	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1247437277 CA367076941	497	A>V		No	ClinGen TOPMed
rs778112365 CA4199820	500	A>S		No	ClinGen ExAC TOPMed gnomAD
rs35085537 CA155882687	500	A>V		No	ClinGen gnomAD
CA155882691 rs986689969	503	V>I		No	ClinGen Ensembl
CA4199823 rs757028645	504	D>G		No	ClinGen ExAC TOPMed gnomAD
CA4199822 rs757028645	504	D>V		No	ClinGen ExAC TOPMed gnomAD
rs143459175 CA4199825	505	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143459175 CA367077033	505	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779676029 CA367077062	506	K>N		No	ClinGen ExAC TOPMed gnomAD
CA367077084 CA4199827 rs748771580	508	S>*		No	ClinGen ExAC gnomAD
CA4199828 rs768335035	509	P>S		No	ClinGen ExAC gnomAD
rs1374251003 CA367077108	510	S>Y		No	ClinGen gnomAD
rs545390820 CA155884137	512	A>G		No	ClinGen gnomAD
CA4199855 rs776092323	513	E>G		No	ClinGen ExAC gnomAD
rs147980008 CA4199856	517	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA367077504 rs1445468365	518	I>M		No	ClinGen TOPMed gnomAD
CA155884149 rs939286378	518	I>V		No	ClinGen TOPMed gnomAD
CA367077510 rs1186479450	519	V>I		No	ClinGen TOPMed
TCGA novel	519	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs61739691 CA4199857	520	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs61739691 CA367077532	520	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1299944580 CA367077550	521	K>T		No	ClinGen gnomAD
CA367077580 rs1373933883	522	G>V		No	ClinGen gnomAD
CA155884204 rs200687127	525	C>R		No	ClinGen 1000Genomes TOPMed gnomAD
rs1012862458 CA155884211	527	M>V		No	ClinGen Ensembl
rs1338874039 CA367077688	528	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs767614654 CA4199860	530	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1350381520 CA367077735	531	I>V		No	ClinGen gnomAD
rs1488334894 CA367077792	533	D>V		No	ClinGen gnomAD
CA367077802 COSM1622752 rs1209457590	534	K>E	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
rs755823071 CA4199864	538	Y>C		No	ClinGen ExAC
rs755823071 CA367077911	538	Y>F		No	ClinGen ExAC
rs1583717559 CA367077936	539	N>S		No	ClinGen Ensembl
CA367077982 rs1187778190	541	C>R		No	ClinGen gnomAD
rs753712992 CA4199866	545	L>*		No	ClinGen ExAC TOPMed gnomAD
rs1160384404 CA367078629	545	L>F		No	ClinGen TOPMed gnomAD
rs919583588 CA155884276	545	L>V		No	ClinGen TOPMed
CA4199867 rs147154541	546	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	546	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4199881 rs773254948	549	K>E		No	ClinGen ExAC
CA4199882 rs199588505	551	K>Q		No	ClinGen 1000Genomes ESP ExAC
rs1453764392 CA367079658	553	N>S		No	ClinGen gnomAD
CA4199883 rs766095326	554	K>E		No	ClinGen ExAC gnomAD
TCGA novel	554	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4199884 rs753625931	556	A>P		No	ClinGen ExAC TOPMed gnomAD
rs753625931 CA367079689	556	A>T		No	ClinGen ExAC TOPMed gnomAD
rs754964407 CA4199885	558	E>V		No	ClinGen ExAC gnomAD
CA4199886 rs369666491	560	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1356888901 CA367079741	561	K>E		No	ClinGen TOPMed
rs199556359 CA155886588	573	A>S		No	ClinGen Ensembl
CA367079957 rs1583390179	577	K>N		No	ClinGen Ensembl
CA4199887 rs752285405	578	L>F		No	ClinGen ExAC gnomAD
CA4199889 rs777495552	579	E>K		No	ClinGen ExAC gnomAD
rs139268186 CA4199890	581	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA155886597 rs970901030	582	E>G		No	ClinGen TOPMed
rs1403912616 CA367080031	584	Q>H		No	ClinGen TOPMed
CA4199891 rs756969829	585	D>G		No	ClinGen ExAC gnomAD
rs1315634859 CA367080056	586	N>S		No	ClinGen gnomAD
CA155898063 rs75265603	589	E>*		No	ClinGen ExAC gnomAD
CA4199918 rs75265603	589	E>K		No	ClinGen ExAC gnomAD
CA155898074 rs749736534	590	L>P		No	ClinGen gnomAD
CA367083825 rs749736534	590	L>R		No	ClinGen gnomAD
CA367083841 rs1421013441	592	R>K		No	ClinGen gnomAD
rs772627121 CA4199920	593	S>N		No	ClinGen ExAC gnomAD
CA4199919 rs748532867	593	S>R		No	ClinGen ExAC gnomAD
rs747066441 CA4199922	594	L>V		No	ClinGen ExAC TOPMed gnomAD
CA367083868 rs1307897958	595	E>G		No	ClinGen TOPMed
CA367083882 rs1239080541	596	N>S		No	ClinGen gnomAD
rs1044593227 CA155898097	600	R>T		No	ClinGen Ensembl
TCGA novel	601	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769409470 CA4199926	608	Q>*		No	ClinGen ExAC
CA4199928 rs775351702	610	P>L		No	ClinGen ExAC gnomAD
rs1311665211 CA367084042	611	Q>*		No	ClinGen gnomAD
rs764074046 CA4199930	612	C>R		No	ClinGen ExAC gnomAD
rs1169643750 CA367084059	612	C>Y		No	ClinGen TOPMed
rs1462057501 CA367084063	613	F>I		No	ClinGen gnomAD
CA4199931 rs751073831	613	F>Y		No	ClinGen ExAC gnomAD
rs761370591 CA4199932	614	K>T		No	ClinGen ExAC gnomAD
CA4199933 rs576464267	615	T>P		No	ClinGen ExAC TOPMed gnomAD
CA367084096 rs1483587749	616	C>R		No	ClinGen TOPMed
rs867861380 CA155898151	617	S>L		No	ClinGen TOPMed
CA367084109 rs1159633108	617	S>P		No	ClinGen gnomAD
rs200733577 CA4199934	618	E>G		No	ClinGen 1000Genomes ExAC gnomAD
rs755394533 CA4199936	619	Q>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	620	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1386927117 CA367084161	621	G>D		No	ClinGen gnomAD
CA367084155 rs1482047367	621	G>S		No	ClinGen TOPMed
CA367084210 rs1359326765	625	T>A		No	ClinGen TOPMed gnomAD
rs765584617 CA4199937	628	N>D		No	ClinGen ExAC gnomAD
CA4199940 rs758878767	629	A>V		No	ClinGen ExAC gnomAD
CA367084297 rs1344403257	630	Q>*		No	ClinGen gnomAD
CA367084381 rs1228831064	634	Q>*		No	ClinGen TOPMed
rs747121513 CA4199942	634	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1371666330 CA367084400	635	Y>H		No	ClinGen TOPMed gnomAD
CA367084451 rs1324490870	638	P>S		No	ClinGen gnomAD
rs527909559 CA4199944	639	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA155898237 rs1028371517	640	A>V		No	ClinGen TOPMed
rs770046826 CA4199946	642	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	645	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	646	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375645372 CA4199964	648	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs375645372 CA4199965	648	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs764523104 CA4199963	648	A>P		No	ClinGen ExAC gnomAD
CA367084779 rs1375826285	650	G>D		No	ClinGen TOPMed
CA4199967 rs745928792	650	G>S		No	ClinGen ExAC gnomAD
rs756333245 CA4199968	651	A>T		No	ClinGen ExAC gnomAD
CA4199969 rs780286506	651	A>V		No	ClinGen ExAC TOPMed gnomAD
CA367084880 rs1303678179	656	E>V		No	ClinGen gnomAD
rs1016635862 CA155898582	661	P>L		No	ClinGen TOPMed
CA367084973 rs1262057797	662	V>I		No	ClinGen TOPMed
rs1342558504 CA367084991	663	R>G		No	ClinGen gnomAD
CA367085012 rs1199362221	664	V>I		No	ClinGen TOPMed
CA367085038 rs1353067746	665	P>L		No	ClinGen gnomAD
rs1228384156 CA367085029	665	P>T		No	ClinGen gnomAD
rs1258272443 CA367085059	667	W>*		No	ClinGen TOPMed
CA367085056 rs1583406926	667	W>G		No	ClinGen Ensembl
rs748161129 CA367085081	668	G>E		No	ClinGen ExAC TOPMed gnomAD
CA4199973 COSM1197073 rs748161129	668	G>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4199974 rs772118919	670	E>K		No	ClinGen ExAC gnomAD
rs1469308891 CA367085128	671	D>E		No	ClinGen gnomAD
rs772896276 CA4199975	671	D>V		No	ClinGen ExAC gnomAD
rs760200197 CA4199976	672	N>S		No	ClinGen ExAC gnomAD
rs1447262450 CA367085207	676	S>I		No	ClinGen gnomAD
CA367085210 rs1447262450	676	S>N		No	ClinGen gnomAD
rs1327224642 CA367085200	676	S>R		No	ClinGen TOPMed
rs764509278 CA4199980	676	S>R		No	ClinGen ExAC gnomAD
CA367085267 rs1366562050	679	A>V		No	ClinGen gnomAD
rs1473655156 CA367085270	680	R>*		No	ClinGen gnomAD
rs1473655156 CA367085269	680	R>G		No	ClinGen gnomAD
CA4199981 rs377595038	680	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA367085333 rs1419203244	682	F>C		No	ClinGen gnomAD
rs767983526 CA4199983	682	F>L		No	ClinGen ExAC gnomAD
CA4199984 rs754034753	684	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1006135183 CA155898639	684	R>W		No	ClinGen TOPMed
TCGA novel	686	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1383043363 CA367085399	686	D>N		No	ClinGen gnomAD
CA4199985 rs756173327	687	G>V		No	ClinGen ExAC TOPMed gnomAD
CA367085456 rs1339081304	690	D>H		No	ClinGen gnomAD
CA155898685 rs1038511901	694	S>G		No	ClinGen Ensembl
CA367087051 rs1180433546	698	E>D		No	ClinGen gnomAD
CA4200002 rs557561150	698	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA367087047 rs1257246431	698	E>Q		No	ClinGen gnomAD
CA367087061 rs1394854537	700	V>L		No	ClinGen TOPMed gnomAD
rs766543130 CA4200003	701	P>L		No	ClinGen ExAC gnomAD
rs202210451 CA4200004	702	T>A		No	ClinGen ExAC TOPMed gnomAD
CA155905472 rs1004428216	702	T>N		No	ClinGen TOPMed gnomAD
rs1454860411 CA367087077	703	A>S		No	ClinGen TOPMed
rs755298183 CA4200005	704	P>S		No	ClinGen ExAC
CA367087087 rs1375965921	705	D>H		No	ClinGen gnomAD
CA367087088 rs1375965921	705	D>Y		No	ClinGen gnomAD
CA367087096 rs1399999693	706	P>L		No	ClinGen Ensembl
CA155905477 rs1015518194	706	P>T		No	ClinGen TOPMed
rs960046960 CA155905478	707	P>T		No	ClinGen TOPMed
rs570040571 CA4200009	708	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4200008 COSM1187275 rs570040571	708	S>T	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA155905512 rs992820041	709	Q>E		No	ClinGen TOPMed
CA4200011 rs774735804	710	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1194680210 CA367087119	710	H>Y		No	ClinGen TOPMed
CA367087125 rs780805545	711	L>V		No	ClinGen ExAC TOPMed gnomAD
rs970208838 CA155905544	712	R>C		No	ClinGen TOPMed
rs112084378 CA4200013	712	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA367087135 rs1279793053	713	G>R		No	ClinGen TOPMed
TCGA novel	713	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA155905573 rs567149467	717	G>R		No	ClinGen Ensembl
CA367087166 rs1346828296	718	F>I		No	ClinGen gnomAD
TCGA novel	721	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1223813254 CA367087201	722	S>Y		No	ClinGen TOPMed gnomAD
CA4200015 rs775078787	723	S>G		No	ClinGen ExAC gnomAD
rs1307736073 CA367087206	723	S>I		No	ClinGen TOPMed gnomAD
rs781388276 CA155906124	724	F>C		No	ClinGen TOPMed gnomAD
CA155906116 rs781388276	724	F>S		No	ClinGen TOPMed gnomAD
rs764008263 CA4200028	727	H>D		No	ClinGen ExAC gnomAD
CA367087254 rs1223255490	728	K>E		No	ClinGen gnomAD
CA367087268 rs947219236	729	K>N		No	ClinGen gnomAD
rs780954290 CA4200031	733	C>F		No	ClinGen ExAC gnomAD
TCGA novel	734	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4200033 rs755568488	736	M>I		No	ClinGen ExAC gnomAD
rs745407817 CA4200032	736	M>V		No	ClinGen ExAC gnomAD
CA367087336 rs1163305847	739	P>R		No	ClinGen gnomAD
CA4200034 rs779689532	740	N>K		No	ClinGen ExAC gnomAD
CA367087348 rs1202906364	741	Y>S		No	ClinGen TOPMed
rs1157569504 CA367087370	744	S>G		No	ClinGen gnomAD
CA367087373 rs1358048006	744	S>N		No	ClinGen gnomAD
rs749004253 CA4200035	746	F>L		No	ClinGen ExAC gnomAD
CA367087406 rs1289082572	748	E>D		No	ClinGen TOPMed gnomAD
TCGA novel	749	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4200037 rs773672909	756	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs771499153 CA4200039	757	C>*		No	ClinGen ExAC TOPMed gnomAD
rs1379832253 CA367087491	758	P>L		No	ClinGen TOPMed
CA367087515 rs1285467214	760	C>G		No	ClinGen gnomAD
CA4200043 rs775699957	762	E>D		No	ClinGen ExAC gnomAD
CA4200042 rs765341397	762	E>K		No	ClinGen ExAC gnomAD
CA367087584 rs1483139873	764	F>L		No	ClinGen gnomAD
CA367087625 rs1245319167	767	D>E		No	ClinGen gnomAD
CA155906246 rs752956625	768	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA367087636 rs752956625	768	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs144255675 CA155906233	768	Y>H		No	ClinGen ESP TOPMed
rs752956625 CA4200045	768	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs764192073 CA4200046	770	Q>P		No	ClinGen ExAC gnomAD
rs751402792 CA4200047 CA367087672	772	V>L		No	ClinGen ExAC gnomAD
rs767505918 CA4200049	774	E>K		No	ClinGen ExAC gnomAD
rs1166323403 CA367087714	775	R>W		No	ClinGen TOPMed
CA367087729 rs1464387126	776	H>Y		No	ClinGen gnomAD
CA4200050 rs375080539	777	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs756166171 CA4200051	778	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA367087757 rs1306899190	778	Q>H		No	ClinGen gnomAD
CA367087751 rs1446027417	778	Q>R		No	ClinGen gnomAD
rs1176039604 CA367087766	779	T>I		No	ClinGen TOPMed
rs1371288284 CA367087783	780	H>Q		No	ClinGen gnomAD
rs1459362092 CA367087821	783	Q>E		No	ClinGen TOPMed
rs375566844 CA4200053	785	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD

No associated diseases with Q86VP1

4 regional properties for Q86VP1

Type	Name	Position	InterPro Accession
domain	Calcium binding and coiled-coil domain-like	125 - 413	IPR012852
domain	SKICH domain	17 - 120	IPR041611
domain	CALCOCO1/2, zinc finger UBZ1-type	727 - 754	IPR041641-1
domain	CALCOCO1/2, zinc finger UBZ1-type	754 - 781	IPR041641-2

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Mitochondrion Preautophagosomal structure Cytoplasmic vesicle, autophagosome
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.

2 GO annotations of molecular function

Name	Definition
kinase binding	Binding to a kinase, any enzyme that catalyzes the transfer of a phosphate group.
metal ion binding	Binding to a metal ion.

3 GO annotations of biological process

Name	Definition
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
negative regulation of apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
negative regulation of NF-kappaB transcription factor activity	Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of the transcription factor NF-kappaB.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q2KJE0	TAX1BP1	Tax1-binding protein 1 homolog	Bos taurus (Bovine)	PR
Q3UKC1	Tax1bp1	Tax1-binding protein 1 homolog	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MTSFQEVPLQ	TSNFAHVIFQ	NVAKSYLPNA	HLECHYTLTP	YIHPHPKDWV	GIFKVGWSTA
70	80	90	100	110	120
RDYYTFLWSP	MPEHYVEGST	VNCVLAFQGY	YLPNDDGEFY	QFCYVTHKGE	IRGASTPFQF
130	140	150	160	170	180
RASSPVEELL	TMEDEGNSDM	LVVTTKAGLL	ELKIEKTMKE	KEELLKLIAV	LEKETAQLRE
190	200	210	220	230	240
QVGRMERELN	HEKERCDQLQ	AEQKGLTEVT	QSLKMENEEF	KKRFSDATSK	AHQLEEDIVS
250	260	270	280	290	300
VTHKAIEKET	ELDSLKDKLK	KAQHEREQLE	CQLKTEKDEK	ELYKVHLKNT	EIENTKLMSE
310	320	330	340	350	360
VQTLKNLDGN	KESVITHFKE	EIGRLQLCLA	EKENLQRTFL	LTTSSKEDTC	FLKEQLRKAE
370	380	390	400	410	420
EQVQATRQEV	VFLAKELSDA	VNVRDRTMAD	LHTARLENEK	VKKQLADAVA	ELKLNAMKKD
430	440	450	460	470	480
QDKTDTLEHE	LRREVEDLKL	RLQMAADHYK	EKFKECQRLQ	KQINKLSDQS	ANNNNVFTKK
490	500	510	520	530	540
TGNQQKVNDA	SVNTDPATSA	STVDVKPSPS	AAEADFDIVT	KGQVCEMTKE	IADKTEKYNK
550	560	570	580	590	600
CKQLLQDEKA	KCNKYADELA	KMELKWKEQV	KIAENVKLEL	AEVQDNYKEL	KRSLENPAER
610	620	630	640	650	660
KMEGQNSQSP	QCFKTCSEQN	GYVLTLSNAQ	PVLQYGNPYA	SQETRDGADG	AFYPDEIQRP
670	680	690	700	710	720
PVRVPSWGLE	DNVVCSQPAR	NFSRPDGLED	SEDSKEDENV	PTAPDPPSQH	LRGHGTGFCF
730	740	750	760	770	780
DSSFDVHKKC	PLCELMFPPN	YDQSKFEEHV	ESHWKVCPMC	SEQFPPDYDQ	QVFERHVQTH

FDQNVLNFD