AiPD: Autoinhibited Protein Database

Q6ZT98

Gene name	TTLL7
Protein name	Tubulin polyglutamylase TTLL7
Names	Testis development protein NYD-SP30, Tubulin--tyrosine ligase-like protein 7
Species	Homo sapiens (Human)
KEGG Pathway	hsa:79739
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

376-450 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

376-450 (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 Q6ZT98

Entry ID	Method	Resolution	Chain	Position	Source
4YLR	X-ray	255 A	A	36-518	PDB
4YLS	X-ray	260 A	A	36-518	PDB
AF-Q6ZT98-F1	Predicted				AlphaFoldDB

570 variants for Q6ZT98

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1266718620 CA340924968	3	S>F		No	ClinGen gnomAD
rs149508045 CA923980	6	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764861869 CA923978	6	Q>H		No	ClinGen ExAC gnomAD
rs545345898 CA923979	6	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	8	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs986333596 CA25498948	9	V>I		No	ClinGen Ensembl
CA923958 rs764815086	11	Q>H		No	ClinGen ExAC gnomAD
rs150773106 CA923960	11	Q>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs150773106 CA340924910	11	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA340924898 rs1346342272	13	P>H		No	ClinGen TOPMed gnomAD
rs1221488645 CA340924900	13	P>S		No	ClinGen gnomAD
CA340924894 rs1237368438	14	S>P		No	ClinGen gnomAD
CA340924887 rs1331675085	15	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs200076199 CA923956	15	P>S		No	ClinGen ExAC TOPMed gnomAD
CA340924881 rs1451419666	16	L>R		No	ClinGen gnomAD
rs901846784 CA25498782	16	L>V		No	ClinGen TOPMed
rs374001456 CA923955	17	D>G		No	ClinGen ESP ExAC gnomAD
TCGA novel	17	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1335609587 CA340924866	19	N>H		No	ClinGen TOPMed gnomAD
TCGA novel	21	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA340924852 rs1384173415	21	E>K		No	ClinGen gnomAD
CA923952 rs772194748	25	Q>*		No	ClinGen ExAC gnomAD
CA340924812 rs1341902408	26	S>N		No	ClinGen TOPMed
rs892307104 CA25498780	26	S>R		No	ClinGen TOPMed
CA340924808 rs1441338044	27	T>A		No	ClinGen gnomAD
CA340924804 rs1412344630	27	T>I		No	ClinGen TOPMed
CA340924797 rs1293261975	28	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1444219773 CA340924798	28	M>T		No	ClinGen gnomAD
rs1179543438 CA340924802	28	M>V		No	ClinGen gnomAD
CA25498777 rs1052251109	29	K>N		No	ClinGen TOPMed
CA923951 rs748110396	32	V>I		No	ClinGen ExAC gnomAD
CA923950 rs41293013	34	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1453393455 CA340924757	34	K>R		No	ClinGen gnomAD
rs576580371 CA25498744	35	K>T		No	ClinGen gnomAD
rs769947516 CA340924743	36	K>R		No	ClinGen ExAC TOPMed gnomAD
rs769947516 CA923949	36	K>T		No	ClinGen ExAC TOPMed gnomAD
CA340924737 rs1203872947	37	K>*		No	ClinGen gnomAD
rs1203872947 CA340924738	37	K>E		No	ClinGen gnomAD
CA340924725 rs1356336921	38	K>N		No	ClinGen gnomAD
rs1345920919 CA340924715	40	T>N		No	ClinGen Ensembl
CA923948 rs746027012	40	T>S		No	ClinGen ExAC TOPMed gnomAD
CA340924712 rs1244868961	41	I>V		No	ClinGen gnomAD
rs1484760282 CA340924692	44	N>D		No	ClinGen TOPMed
CA340924677 rs1258271687	46	A>S		No	ClinGen TOPMed
CA340924666 rs1473089671	48	T>S		No	ClinGen TOPMed
CA25544764 rs111339757	53	V>A		No	ClinGen Ensembl
CA923931 rs267598737	54	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs774366508 CA923930	54	R>H		No	ClinGen ExAC TOPMed gnomAD
rs769739722 CA923929	55	L>F		No	ClinGen ExAC TOPMed gnomAD
CA923928 rs759702009	57	I>M		No	ClinGen ExAC gnomAD
rs1396801743 CA340924589	57	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA25544756 rs945289697 COSM536541	57	I>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA340924583 rs1199272357	58	D>E		No	ClinGen gnomAD
TCGA novel	58	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA923927 rs776710092	58	D>N		No	ClinGen ExAC gnomAD
TCGA novel	58	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1392701044 CA340924574	59	E>D		No	ClinGen TOPMed
CA340924559 rs1298574375	61	G>E		No	ClinGen TOPMed
CA923926 rs201589656	63	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA340924528 rs1248788987	64	K>E		No	ClinGen gnomAD
rs199671298 CA340924519	64	K>N		No	ClinGen 1000Genomes TOPMed gnomAD
rs1316544136 CA340924507	65	T>I		No	ClinGen TOPMed
rs199784704 CA923925	67	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1481751377 CA340924476	68	E>G		No	ClinGen TOPMed
CA340924452 rs1255688064	70	E>Q		No	ClinGen gnomAD
CA340924447 rs1208277216	70	E>V		No	ClinGen TOPMed
rs1219966265 CA340924420	72	S>N		No	ClinGen gnomAD
rs778043375 CA923924	72	S>R		No	ClinGen ExAC gnomAD
CA340924417 rs1282615884	73	N>H		No	ClinGen gnomAD
rs1369543475 CA340924389	75	I>K		No	ClinGen gnomAD
rs1369543475 CA340924387	75	I>T		No	ClinGen gnomAD
CA923923 rs772451926	75	I>V		No	ClinGen ExAC gnomAD
CA923922 rs748584015	77	C>Y		No	ClinGen ExAC gnomAD
CA340924342 rs1266850928	79	S>T		No	ClinGen TOPMed
CA340924338 rs1433817652	79	S>Y		No	ClinGen TOPMed
CA923920 rs532088307	80	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA923919 rs753446483	81	V>I		No	ClinGen ExAC gnomAD
rs926065124 CA25544681	82	Q>E		No	ClinGen Ensembl
rs779724900 CA923918	82	Q>H		No	ClinGen ExAC gnomAD
rs1431942179 CA340924213	90	Q>L		No	ClinGen gnomAD
rs111267423 CA25544676	93	Q>*		No	ClinGen Ensembl
CA923901 rs749766470	96	N>S		No	ClinGen ExAC
CA25543619 rs374539790	100	G>R		No	ClinGen Ensembl
CA340923991 CA25543618 rs951686983	102	G>R		No	ClinGen TOPMed gnomAD
CA340923981 rs1025839294	103	E>*		No	ClinGen TOPMed gnomAD
CA25543617 rs1025839294	103	E>K		No	ClinGen TOPMed gnomAD
CA340923930 rs1378816938	107	K>R		No	ClinGen gnomAD
TCGA novel	107	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA25543610 rs866330662	111	A>S		No	ClinGen Ensembl
CA923899 rs755705239	113	N>S		No	ClinGen ExAC
rs1439907214 CA340923831	115	T>I		No	ClinGen gnomAD
CA340923362 rs1487262122	118	I>M		No	ClinGen gnomAD
rs201769908 CA923886	118	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA25542869 rs939188330	120	S>P		No	ClinGen TOPMed
rs776185188 CA923883	121	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs749756605 CA923884	121	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs769393930 COSM912540 CA923882	130	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA923881 rs745434071	133	I>T		No	ClinGen ExAC TOPMed gnomAD
CA923880 rs780978266	136	A>S		No	ClinGen ExAC TOPMed gnomAD
CA340923253 rs780978266	136	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1339093841 CA340923241	137	E>D		No	ClinGen gnomAD
CA923879 rs756875430	139	T>A		No	ClinGen ExAC gnomAD
CA923878 rs746644257	142	Q>E		No	ClinGen ExAC
rs1228366669 CA340923195	144	Y>H		No	ClinGen gnomAD
CA25542837 rs983349229	146	K>T		No	ClinGen Ensembl
CA340923175 rs1161137360	147	E>K		No	ClinGen gnomAD
rs1368603503 CA340923165	148	L>*		No	ClinGen gnomAD
rs1459121224 CA340923167	148	L>M		No	ClinGen gnomAD
CA340923160 rs1476518242	149	K>Q		No	ClinGen gnomAD
rs752601007 CA923875 COSM1230848	152	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs758178107 CA923876	152	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs765227428 CA923874	154	Q>L		No	ClinGen ExAC gnomAD
TCGA novel	155	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1296460397 CA340923095	158	I>V		No	ClinGen TOPMed
rs17854569 CA25542799	161	P>R		No	ClinGen Ensembl
TCGA novel	162	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA923872 rs750449891	165	A>T		No	ClinGen ExAC TOPMed gnomAD
CA340923030 rs1557707571	168	H>N		No	ClinGen Ensembl
rs1218124855 CA340923026	168	H>R		No	ClinGen gnomAD
rs747996561 CA923854	171	S>A		No	ClinGen ExAC gnomAD
rs1308126665 CA340922876	174	R>I		No	ClinGen gnomAD
CA340922873 rs1444115297	174	R>S		No	ClinGen gnomAD
CA923853 rs778693574	175	N>H		No	ClinGen ExAC gnomAD
CA340922851 rs1199328300	176	G>V		No	ClinGen TOPMed
TCGA novel	177	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA340922828 rs1331456575	178	K>R		No	ClinGen gnomAD
CA923852 rs754846884	180	P>L		No	ClinGen ExAC gnomAD
CA25539033 rs983793495	181	S>P		No	ClinGen Ensembl
CA923851 rs753808742	183	D>N		No	ClinGen ExAC gnomAD
rs1478263340 CA340922746	185	L>F		No	ClinGen gnomAD
CA340922725 rs1424216124	187	V>A		No	ClinGen TOPMed
TCGA novel	190	Y>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1379421586 CA340922632	195	F>L		No	ClinGen TOPMed gnomAD
rs536756957 CA25538980	199	G>D		No	ClinGen Ensembl
TCGA novel	201	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	203	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA923849 rs757333081	204	L>F		No	ClinGen ExAC gnomAD
COSM912537 CA340922499 rs1571258711	205	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
CA340922491 rs1438050425	206	I>F		No	ClinGen TOPMed gnomAD
CA340922473 rs1464691761	207	Y>F		No	ClinGen TOPMed
rs751771225 CA923848	212	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs141235709 CA923845	218	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs565672523 CA923843	221	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
CA923842 rs372643726	222	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA923841 rs770446371	226	V>A		No	ClinGen ExAC gnomAD
rs757652830 CA25538919	227	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs760170892 CA923840	228	M>R		No	ClinGen ExAC gnomAD
CA340922312 rs1309477606	229	G>A		No	ClinGen gnomAD
TCGA novel	231	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148979967 CA923838	234	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs200876907 CA923837	235	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs200876907 CA923836	235	P>T		No	ClinGen 1000Genomes ExAC gnomAD
CA340922269 rs1359729833	236	P>A		No	ClinGen gnomAD
CA923835 rs768465645	237	N>S		No	ClinGen ExAC gnomAD
CA340922239 rs1332690445	240	N>S		No	ClinGen TOPMed
rs1219282198 CA340922235	241	L>M		No	ClinGen TOPMed
CA340921993 rs1160190760	242	T>A		No	ClinGen gnomAD
rs766854354 CA923821	243	Q>E		No	ClinGen ExAC gnomAD
COSM1344524 rs774042881 CA923816	253	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA923815 rs768410918	256	H>R		No	ClinGen ExAC gnomAD
rs775482319 CA923813	262	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1316696589 CA340921729	263	D>A		No	ClinGen gnomAD
CA923811 rs745821597	264	E>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	268	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA340921609 rs1557685775	272	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs779346950 CA340921576	275	K>I		No	ClinGen ExAC gnomAD
rs779346950 CA923807	275	K>R		No	ClinGen ExAC gnomAD
TCGA novel	276	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA340921552 rs1462076503	277	F>I		No	ClinGen gnomAD
CA923805 rs755384042	281	L>R		No	ClinGen ExAC gnomAD
rs754094759 CA923804	284	N>D		No	ClinGen ExAC gnomAD
rs766771933 CA923803	284	N>S		No	ClinGen ExAC gnomAD
rs766771933 CA25535317	284	N>T		No	ClinGen ExAC gnomAD
rs750966676 CA340921438	286	H>Q		No	ClinGen ExAC gnomAD
CA923802 rs756541831	286	H>R		No	ClinGen ExAC TOPMed gnomAD
CA923800 rs766993889	288	V>I		No	ClinGen ExAC gnomAD
CA923799 rs373708551	292	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA923798 rs773986034	293	S>G		No	ClinGen ExAC gnomAD
rs1456965095 CA340921336	294	D>V		No	ClinGen gnomAD
TCGA novel	294	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768081805 CA923781	297	E>Q		No	ClinGen ExAC gnomAD
CA25532397 rs17857511	298	L>M		No	ClinGen Ensembl
rs763594918 CA340921253	303	L>V		No	ClinGen ExAC TOPMed gnomAD
CA340921249 rs1230295783	304	I>V		No	ClinGen TOPMed
rs762469706 CA923777	305	V>I		No	ClinGen ExAC gnomAD
CA340921232 rs1376444927	306	A>V		No	ClinGen gnomAD
TCGA novel	307	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA340921226 rs1305125796	307	E>V		No	ClinGen TOPMed
CA340921219 rs1307299362	308	P>H		No	ClinGen gnomAD
rs865831026 CA25532350	314	Y>C		No	ClinGen Ensembl
CA340921176 rs764916974	315	R>*		No	ClinGen ExAC TOPMed gnomAD
rs1302819735 COSM912535 CA340921175	315	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA923773 rs776698487	320	G>C		No	ClinGen ExAC gnomAD
rs770937334 CA923772	322	P>S		No	ClinGen ExAC gnomAD
rs1378119198 CA340921100	326	E>G		No	ClinGen gnomAD
rs1483452719 CA340921104	326	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA340921103 rs1483452719	326	E>Q		No	ClinGen TOPMed
rs1160061548 CA523778468	329	C>*		No	ClinGen gnomAD
TCGA novel	336	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1254864714 CA340921002	340	D>Y		No	ClinGen gnomAD
CA340920970 rs1484202931	344	K>N		No	ClinGen gnomAD
CA340920957 rs1215670228	346	W>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA340920919 rs1218555708	350	I>S		No	ClinGen gnomAD
rs1571218356 CA340920921	350	I>V		No	ClinGen Ensembl
rs905220341 CA25529219	351	N>T		No	ClinGen TOPMed
rs1571218305 COSM292477 CA340920907	352	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs765005913 COSM172099 CA923758	352	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA923757 rs759276729	360	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs567499160 CA25529201	364	Y>C		No	ClinGen 1000Genomes
CA923756 rs753622821	366	V>I		No	ClinGen ExAC gnomAD
CA340920788 rs1169970701	369	G>E		No	ClinGen gnomAD
TCGA novel	373	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA340920757 rs1425599487	374	A>G		No	ClinGen TOPMed gnomAD
rs1425599487 CA340920756	374	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA25529185 rs1045455935	380	I>L		No	ClinGen TOPMed
CA923734 COSM1230846 rs753567770	382	T>A	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs753567770 CA340920697	382	T>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	382	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1178141526 CA340920676	385	K>Q		No	ClinGen gnomAD
TCGA novel	385	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1456463271 CA340920666	386	R>K		No	ClinGen gnomAD
rs767552516 CA923730	388	N>K		No	ClinGen ExAC gnomAD
rs1254619817 CA340920630	391	K>R		No	ClinGen gnomAD
CA340920631 rs1254619817	391	K>T		No	ClinGen gnomAD
rs761666471 CA923729	397	Q>H		No	ClinGen ExAC
rs1236882819 CA340920581	398	R>K		No	ClinGen gnomAD
rs775570406 CA923728	400	L>P		No	ClinGen ExAC gnomAD
CA923727 rs765259021	401	Y>C		No	ClinGen ExAC gnomAD
CA25523373 rs58962215	403	Q>K		No	ClinGen Ensembl
rs759701425 CA923726	406	I>V		No	ClinGen ExAC gnomAD
TCGA novel	407	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA923725 rs776886295	408	R>M		No	ClinGen ExAC
CA25523325 rs778242384	409	L>F		No	ClinGen gnomAD
TCGA novel	410	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747438390 CA923723	411	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1435061144 CA340920490	412	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1175286932 CA340920492	412	G>R		No	ClinGen gnomAD
CA340920483 rs1453010711	413	S>C		No	ClinGen gnomAD
rs1005583809 CA25523303	417	E>K		No	ClinGen Ensembl
CA340920426 rs1468705333	421	H>Y		No	ClinGen gnomAD
CA923720 rs748636823	423	L>V		No	ClinGen ExAC gnomAD
CA25523272 rs775004707	425	R>K		No	ClinGen Ensembl
CA923717 rs748921687	426	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA923718 rs142539632	426	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1213490297 CA340920376	428	E>V		No	ClinGen gnomAD
CA340920373 rs1486188663	429	E>K		No	ClinGen gnomAD
TCGA novel	433	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774763160 CA923701	435	A>S		No	ClinGen ExAC TOPMed gnomAD
CA340920318 rs774763160	435	A>T		No	ClinGen ExAC TOPMed gnomAD
CA340920314 rs1233822345	435	A>V		No	ClinGen gnomAD
rs768280262 CA923700	436	Q>*		No	ClinGen ExAC gnomAD
rs768280262 CA340920312	436	Q>K		No	ClinGen ExAC gnomAD
TCGA novel	437	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA923698 rs551641536	438	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
TCGA novel	439	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755758118 CA923697	441	I>N		No	ClinGen ExAC TOPMed gnomAD
CA340920279 rs1347214454	441	I>V		No	ClinGen gnomAD
rs995284827 CA25523062	443	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA340920243 rs1423447266	446	H>L		No	ClinGen TOPMed gnomAD
CA340920244 rs1423447266	446	H>R		No	ClinGen TOPMed gnomAD
TCGA novel	447	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372313045 CA923693	448	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1242389413 CA340920221	449	R>L		No	ClinGen TOPMed gnomAD
rs1242389413 CA340920223	449	R>Q		No	ClinGen TOPMed gnomAD
CA923691 rs755037689	450	H>R		No	ClinGen ExAC gnomAD
CA923690 rs368678219	451	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs868019143 CA25521969	456	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA340920142 rs1571188183	459	P>L		No	ClinGen Ensembl
TCGA novel	464	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA923668 rs750656187	464	A>T		No	ClinGen ExAC TOPMed gnomAD
rs762113054 CA923666	471	N>H		No	ClinGen ExAC gnomAD
rs751910323 CA923665	478	Q>H		No	ClinGen ExAC gnomAD
CA340920002 rs1571188037	479	T>N		No	ClinGen Ensembl
rs764581166 CA923664	480	F>L		No	ClinGen ExAC TOPMed gnomAD
rs764581166 CA340919998	480	F>V		No	ClinGen ExAC TOPMed gnomAD
CA340919970 rs1408125140	484	R>K		No	ClinGen TOPMed
rs1433207386 CA340919962	485	A>V		No	ClinGen gnomAD
rs1396534755 CA340919936	489	Q>H		No	ClinGen gnomAD
CA25521932 rs17857510	489	Q>R		No	ClinGen Ensembl
CA923662 rs776185260	490	R>*		No	ClinGen ExAC gnomAD
CA25521910 rs915141887	490	R>Q		No	ClinGen TOPMed gnomAD
rs17855098 CA25521885	493	N>D		No	ClinGen Ensembl
CA340919899 rs1171938398	495	P>S		No	ClinGen TOPMed gnomAD
rs386633014 CA25521872	498	R>E		No	ClinGen Ensembl
rs377489362 CA923659	498	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1208493016 CA340919870	499	M>I		No	ClinGen gnomAD
rs375035697 CA25521838	499	M>K		No	ClinGen Ensembl
rs374151501 CA25521852	499	M>L		No	ClinGen ESP
rs1486517031 CA340919867	500	K>Q		No	ClinGen gnomAD
rs770431784 CA923658	500	K>R		No	ClinGen ExAC
rs1231997123 CA340919844	501	E>G		No	ClinGen gnomAD
CA340919840 rs1475243926	502	E>K		No	ClinGen Ensembl
CA923634 rs140584102	504	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA340919749 rs1016550974	514	D>G		No	ClinGen TOPMed gnomAD
CA25520326 rs1016550974	514	D>V		No	ClinGen TOPMed gnomAD
rs1381963702 CA340919729	517	K>Q		No	ClinGen gnomAD
TCGA novel	517	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1290236355 CA340919714	519	M>V		No	ClinGen TOPMed gnomAD
rs200358438 CA923631	522	T>A		No	ClinGen ExAC gnomAD
CA923630 rs771851636	522	T>I		No	ClinGen ExAC TOPMed gnomAD
rs577416666 CA923629	523	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA923627 rs138340708	524	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1426473641 CA340919676	525	T>P		No	ClinGen gnomAD
rs185633115 CA923626	525	T>S		No	ClinGen 1000Genomes ExAC
CA923624 rs757457420	529	K>N		No	ClinGen ExAC gnomAD
rs1298559110 CA340919524	530	P>S		No	ClinGen gnomAD
TCGA novel	531	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754297571 CA923596	531	L>V		No	ClinGen ExAC gnomAD
rs369267255 CA923595	535	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1473097136 CA340919476	537	S>N		No	ClinGen TOPMed
rs1571156620 CA916222337	537	S>RN*		No	ClinGen Ensembl
CA340919454 rs1395763357	540	I>T		No	ClinGen gnomAD
rs1181092661 CA340919450	541	M>V		No	ClinGen gnomAD
rs1039184852 CA25515347	544	P>R		No	ClinGen gnomAD
CA25515338 rs374855272	545	K>T		No	ClinGen ESP TOPMed
rs1196775103 CA340919402	547	C>*		No	ClinGen gnomAD
CA25515320 rs1007826113	547	C>Y		No	ClinGen Ensembl
rs878859595 CA25515307	548	S>N		No	ClinGen Ensembl
rs531612227 CA923593	549	S>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1277805063 CA340919377	551	S>G		No	ClinGen gnomAD
rs1348056965 CA340919359	553	Y>C		No	ClinGen TOPMed gnomAD
rs1236019551 CA340919362	553	Y>H		No	ClinGen gnomAD
CA923590 rs751269883	555	S>R		No	ClinGen ExAC gnomAD
rs763761795 CA923589	555	S>T		No	ClinGen ExAC gnomAD
rs762869921 CA923588	556	S>I		No	ClinGen ExAC TOPMed gnomAD
CA340919311 rs1373379800	560	S>T		No	ClinGen gnomAD
rs775274360 CA923587	561	E>A		No	ClinGen ExAC gnomAD
rs1571156235 CA340919281	564	E>G		No	ClinGen Ensembl
rs890685116 COSM197368 CA25515231	564	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA340919277 rs1571156222	565	N>H		No	ClinGen Ensembl
CA340919274 rs1158090011	565	N>T		No	ClinGen gnomAD
CA25515230 rs1051996815	566	E>K		No	ClinGen gnomAD
CA340919261 rs1294524584	567	K>E		No	ClinGen TOPMed
rs74351592 CA25515229	570	Y>*		No	ClinGen gnomAD
CA340919235 rs1326481084	570	Y>C		No	ClinGen TOPMed
CA25515216 rs868020728	572	N>D		No	ClinGen Ensembl
TCGA novel	574	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA25515212 rs17857509	575	R>G		No	ClinGen Ensembl
rs1213398252 CA340919163	580	T>A		No	ClinGen TOPMed gnomAD
rs1557617271 CA340919153	581	Y>F		No	ClinGen Ensembl
CA340919150 rs1198492744	582	N>H		No	ClinGen TOPMed
TCGA novel	582	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA923583 rs772300853	583	L>F		No	ClinGen ExAC gnomAD
rs368430039 CA923582	583	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1571155937 CA340919132	584	K>N		No	ClinGen Ensembl
rs1352187186 CA340919127	585	P>L		No	ClinGen gnomAD
CA923580 rs768890502	587	N>D		No	ClinGen ExAC gnomAD
CA923579 rs749610474	588	H>D		No	ClinGen ExAC TOPMed gnomAD
CA923578 rs780403482	589	Y>C		No	ClinGen ExAC gnomAD
rs1000170868 CA25515163	590	K>R		No	ClinGen TOPMed gnomAD
rs756576819 CA923577	591	L>V		No	ClinGen ExAC
CA25515125 rs905830068	593	Q>P		No	ClinGen TOPMed
CA340919063 rs17855097	594	Q>H		No	ClinGen ExAC gnomAD
rs751163804 CA923573	595	P>L		No	ClinGen ExAC TOPMed gnomAD
CA923574 rs751163804	595	P>R		No	ClinGen ExAC TOPMed gnomAD
CA340919039 rs910978607	596	S>R		No	ClinGen TOPMed gnomAD
CA340919033 rs1171205802	597	S>F		No	ClinGen TOPMed
rs1194890048 CA340919029	598	I>K		No	ClinGen TOPMed gnomAD
rs1401004035 CA340919032	598	I>V		No	ClinGen TOPMed
rs1440218532 CA340919023	599	R>K		No	ClinGen gnomAD
CA923561 rs775786620	600	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM1172174 rs770197943 CA923560	600	R>H	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA340918995 rs1406378096	603	S>R		No	ClinGen gnomAD
rs1309867819 CA340918991	604	C>Y		No	ClinGen TOPMed
CA340918981 rs1419247112	605	P>L		No	ClinGen gnomAD
rs1379037774 CA340918984	605	P>S		No	ClinGen TOPMed
CA25512442 rs955602046	606	R>Q		No	ClinGen TOPMed gnomAD
rs143330409 CA923559 COSM414767	606	R>W	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs201864596 CA923557	607	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs141367927 CA923556	608	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1233773455 CA340918961	609	S>F		No	ClinGen gnomAD
rs978335154 CA25512422	610	A>S		No	ClinGen TOPMed
rs1254866539 CA340918954	611	Q>E		No	ClinGen gnomAD
CA340918952 rs1354797361	611	Q>P		No	ClinGen gnomAD
CA340918940 rs1178426500	613	P>A		No	ClinGen TOPMed
CA340918929 rs1270624471	615	S>C		No	ClinGen TOPMed gnomAD
CA340918903 rs772691676	618	T>I		No	ClinGen ExAC TOPMed gnomAD
rs772691676 CA923551	618	T>S		No	ClinGen ExAC TOPMed gnomAD
CA923550 rs34313577	619	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1233727278 COSM1230847 CA340918899	619	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	621	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1478091625 CA340918884	621	F>L		No	ClinGen TOPMed
rs1368862656 CA340918883	622	S>A		No	ClinGen gnomAD
CA340918872 rs1173962852	623	A>V		No	ClinGen TOPMed
CA340918862 rs1354405633	625	Q>E		No	ClinGen gnomAD
CA25512391 rs774452236 CA923547	626	M>I		No	ClinGen ExAC TOPMed gnomAD
CA25512399 rs959596318	626	M>V		No	ClinGen TOPMed gnomAD
CA340918827 rs1411962186	627	I>M		No	ClinGen gnomAD
CA340918836 rs1571144350	627	I>V		No	ClinGen Ensembl
CA25512373 rs868639888	631	R>L		No	ClinGen Ensembl
CA923546 rs764107364	631	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1452089618 CA340918778	632	P>T		No	ClinGen gnomAD
rs763219274 CA923545	633	T>A		No	ClinGen ExAC gnomAD
rs1480274112 CA340918742	636	S>T		No	ClinGen gnomAD
CA25512370 rs374889176	637	R>L		No	ClinGen ESP gnomAD
CA340918729 rs374889176	637	R>Q		No	ClinGen ESP gnomAD
rs199978711 CA923544	637	R>W		No	ClinGen 1000Genomes ExAC gnomAD
CA340918710 rs1275695037	639	H>Y		No	ClinGen gnomAD
CA923543 rs770134968	640	S>P		No	ClinGen ExAC gnomAD
CA923541 rs774505633	643	R>C		No	ClinGen ExAC TOPMed gnomAD
CA340918661 rs774505633	643	R>G		No	ClinGen ExAC TOPMed gnomAD
rs771400817 CA923540	643	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA923538 rs777286479	646	S>A		No	ClinGen ExAC TOPMed gnomAD
CA340918614 rs1259137138	647	Y>H		No	ClinGen TOPMed
CA340918576 rs201287031 CA25512323	648	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201287031 CA923536	648	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778766626 CA923535	649	R>K		No	ClinGen ExAC gnomAD
CA923534 COSM3689858 rs544221354	650	H>Y	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs370118118 CA923533	651	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA340918500 rs1451662230	653	H>Q		No	ClinGen TOPMed
rs1405769298 CA340918497	654	S>G		No	ClinGen TOPMed gnomAD
rs1557607066 CA340918439	657	A>D		No	ClinGen Ensembl
CA923531 rs756033521	657	A>T		No	ClinGen ExAC gnomAD
CA25512287 rs1040683359	659	S>F		No	ClinGen TOPMed
CA340918393 rs1256548179	660	T>A		No	ClinGen gnomAD
CA340918389 rs1171013690	660	T>I		No	ClinGen TOPMed
rs764207524 CA923529	661	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1456262605 CA340918372	662	S>P		No	ClinGen TOPMed
TCGA novel	664	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs529949736 CA923503	665	S>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	666	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA923502 rs772638889	666	E>D		No	ClinGen ExAC TOPMed gnomAD
CA340918187 rs1170433582	667	S>F		No	ClinGen TOPMed
rs763571666 CA923501	668	L>W		No	ClinGen ExAC TOPMed gnomAD
rs140550431 CA340918179	669	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA923499 COSM316256 rs140550431	669	R>Q	lung large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
COSM912530 CA923500 rs199677857	669	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs748915399 CA923498	671	L>Q		No	ClinGen ExAC
CA340918140 rs1368825714	675	E>A		No	ClinGen gnomAD
rs781048786 CA923494 COSM1344521	676	Q>E	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs17855095 CA25511577	677	E>G		No	ClinGen Ensembl
CA923493 rs757148841	679	D>Y		No	ClinGen ExAC gnomAD
rs778943009 CA923491	681	T>A		No	ClinGen ExAC TOPMed gnomAD
CA923490 rs755091025	682	S>N		No	ClinGen ExAC gnomAD
rs1252991745 CA340918064	686	F>C		No	ClinGen gnomAD
rs896308920 CA25511568	686	F>L		No	ClinGen Ensembl
rs754086428 CA923489	689	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1036287276 CA25511558	691	M>I		No	ClinGen Ensembl
rs573408653 CA923488	691	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA923487 rs556657377	692	K>M		No	ClinGen 1000Genomes ExAC gnomAD
CA923484 rs775035250	694	R>L		No	ClinGen ExAC TOPMed gnomAD
CA923483 rs775035250	694	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA923485 rs768014606	694	R>W		No	ClinGen ExAC gnomAD
CA923481 rs762424594	698	K>M		No	ClinGen ExAC gnomAD
CA923480 rs775083276	700	D>E		No	ClinGen ExAC gnomAD
CA25511514 rs571834301	700	D>G		No	ClinGen 1000Genomes
CA25511502 rs908555423	701	A>E		No	ClinGen Ensembl
rs1391287349 CA340917968	701	A>S		No	ClinGen gnomAD
CA923479 rs769266789	702	E>D		No	ClinGen ExAC gnomAD
rs1460239988 CA340917940	705	L>P		No	ClinGen gnomAD
CA923478 rs745568160	707	I>T		No	ClinGen ExAC gnomAD
rs1344622073 CA340917923	708	E>G		No	ClinGen TOPMed
CA923477 rs776243577	709	D>E		No	ClinGen ExAC gnomAD
CA340917895 rs1201713736	710	I>N		No	ClinGen TOPMed gnomAD
CA923462 rs139777685	711	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763524877 CA923463	711	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1051945911 CA25510177	712	D>N		No	ClinGen Ensembl
CA923461 rs138788969	715	K>N		No	ClinGen ESP ExAC
rs1352198367 CA340917843	717	H>Q		No	ClinGen gnomAD
CA25510163 rs112827657	719	T>A		No	ClinGen Ensembl
CA923460 rs755371994	725	W>*		No	ClinGen ExAC gnomAD
rs1428403466 CA340917779	727	I>V		No	ClinGen TOPMed
TCGA novel	730	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs922077317 CA25510159	733	K>R		No	ClinGen TOPMed
rs1157999559 CA340917722	735	R>*		No	ClinGen gnomAD
COSM1344520 rs1345161586 CA340917720	735	R>Q	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	737	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	737	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1450868097 CA340917376	743	T>R		No	ClinGen gnomAD
COSM197365 rs371072730 CA923434	746	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1192396410 CA340917357	746	R>H		No	ClinGen TOPMed gnomAD
rs745881175 CA923432	747	T>I		No	ClinGen ExAC TOPMed gnomAD
CA923433 rs190219125	747	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1261873728 CA340917349	748	V>I		No	ClinGen TOPMed
rs950475898 CA25500497	749	L>I		No	ClinGen Ensembl
rs372539532 CA923430	751	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA923429 COSM912528 rs368937222	751	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	752	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1212389006 CA340917307	754	K>N		No	ClinGen Ensembl
TCGA novel	758	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1557555626 CA340917271	759	E>D		No	ClinGen Ensembl
TCGA novel	760	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA923428 rs199773696	762	N>H		No	ClinGen 1000Genomes ExAC gnomAD
rs758839521 CA923427	762	N>S		No	ClinGen ExAC gnomAD
rs1557555522 CA340917241	764	Y>H		No	ClinGen Ensembl
CA923423 rs375035907	765	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs755453431 CA923424	765	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA340917230 rs1431267046	766	I>V		No	ClinGen gnomAD
CA923421 rs373309024	769	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs765895176 CA923422	769	R>W		No	ClinGen ExAC TOPMed
CA923420 rs140612684	770	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA923419 rs140612684	770	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1412229894 CA340917193	772	N>D		No	ClinGen gnomAD
rs1191689608 CA340917183 COSM1166391	773	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
COSM1344519 rs369684657 CA923417	773	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA923416 rs369684657	773	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA923414 rs776807124	777	S>R		No	ClinGen ExAC gnomAD
CA340917150 rs1484179079 COSM3930868	778	R>C	urinary_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
CA923413 COSM291500 rs146805080	778	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1209568714 CA340917130	781	G>E		No	ClinGen TOPMed gnomAD
CA340917128 rs1209568714	781	G>V		No	ClinGen TOPMed gnomAD
CA923412 rs374557018	787	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs778124501 CA923411	789	S>A		No	ClinGen ExAC TOPMed gnomAD
rs772312251 COSM426751 CA923410	790	G>R	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA340918796 rs1299461379	794	E>G		No	ClinGen gnomAD
CA923386 rs536830661	794	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs745306212 CA923384	796	I>L		No	ClinGen ExAC gnomAD
rs148381649 CA923383	796	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1276186666 CA340918771	796	I>T		No	ClinGen gnomAD
CA923382 rs756889429	798	N>K		No	ClinGen ExAC TOPMed gnomAD
CA923381 rs751223259	799	K>N		No	ClinGen ExAC gnomAD
rs535400306 CA923380	800	S>G		No	ClinGen ExAC TOPMed gnomAD
CA923379 COSM1134950 rs181528099	801	P>L	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs376090236 CA923377	803	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA923376 rs376090236	803	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1462544395 CA340918637	806	P>H		No	ClinGen TOPMed gnomAD
rs1462544395 CA340918635	806	P>R		No	ClinGen TOPMed gnomAD
CA923375 rs773303488	806	P>S		No	ClinGen ExAC gnomAD
CA340918640 rs773303488	806	P>T		No	ClinGen ExAC gnomAD
CA340918555 rs1197366312	814	R>C		No	ClinGen gnomAD
rs1435360714 CA340918552	814	R>H		No	ClinGen gnomAD
CA340918511 rs1365607428	817	E>V		No	ClinGen TOPMed
CA26505416 rs11804448	823	L>M		No	ClinGen Ensembl
CA340918409 rs1295890511	825	V>A		No	ClinGen TOPMed
rs1011582586 CA26505415	829	Y>C		No	ClinGen gnomAD
rs775833669 CA923369	831	T>A		No	ClinGen ExAC gnomAD
CA340918321 rs1338591571	832	D>A		No	ClinGen TOPMed
rs770241308 CA923368	833	K>R		No	ClinGen ExAC gnomAD
rs746380448 CA923367	834	R>K		No	ClinGen ExAC gnomAD
rs1244031249 CA340918299	835	G>V		No	ClinGen TOPMed
CA340918293 rs1310072319	836	S>L		No	ClinGen gnomAD
CA923366 rs770390715 CA923365	838	S>*		No	ClinGen ExAC gnomAD
rs746671938 CA340918275	840	I>L		No	ClinGen ExAC TOPMed
CA26505414 rs1054756819	840	I>T		No	ClinGen TOPMed
rs746671938 CA923364	840	I>V		No	ClinGen ExAC TOPMed
rs1401595581 CA340918271	841	G>S		No	ClinGen gnomAD
CA923363 rs777627232	844	W>*		No	ClinGen ExAC gnomAD
rs1284134530 CA340918240	845	G>D		No	ClinGen TOPMed
rs1407529696 CA340917683	850	L>F		No	ClinGen gnomAD
CA340917672 rs1265309973	852	P>L		No	ClinGen gnomAD
CA923346 rs374784821	855	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA340917655 rs1159449146	855	T>S		No	ClinGen gnomAD
rs1319366043	858	F>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs745879802 CA923343	863	T>A		No	ClinGen ExAC TOPMed gnomAD
rs778819530 CA923342	863	T>I		No	ClinGen ExAC gnomAD
rs753799151 CA923340	865	N>H		No	ClinGen ExAC gnomAD
rs779797192 CA923339	865	N>I		No	ClinGen ExAC TOPMed gnomAD
CA340917579 rs1441265333	866	L>F		No	ClinGen Ensembl
CA340917557 rs1375746672	869	N>S		No	ClinGen TOPMed gnomAD
rs1226319301 CA340917546	871	P>A		No	ClinGen TOPMed
rs1287530515 CA340917542	871	P>L		No	ClinGen TOPMed
CA26504165 rs951296770	872	G>A		No	ClinGen TOPMed gnomAD
CA340917537 rs951296770	872	G>V		No	ClinGen TOPMed gnomAD
TCGA novel	873	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764177870 CA923336	875	R>C		No	ClinGen ExAC TOPMed gnomAD
rs200003317 CA923335	875	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs764177870 CA340917521	875	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs752960605 CA923334	876	S>P		No	ClinGen ExAC gnomAD
CA340917517 rs752960605	876	S>T		No	ClinGen ExAC gnomAD
CA340917511 rs1394959845	877	N>D		No	ClinGen gnomAD
CA923333 rs778975719	877	N>S		No	ClinGen ExAC TOPMed gnomAD
CA340917500 rs1405106971	878	V>G		No	ClinGen gnomAD
rs369240164 CA26504164	880	F>L		No	ClinGen ESP TOPMed
CA923332 rs757384104	881	T>A		No	ClinGen ExAC gnomAD
CA340917478 rs1365583220	882	S>A		No	ClinGen gnomAD
rs764539717 CA923330	884	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs561752701 CA923331	884	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
CA26504163 rs911690643	885	G>D		No	ClinGen TOPMed
CA340917449 rs1186071411	886	H>Q		No	ClinGen gnomAD
rs1389027281 CA340917452	886	H>R		No	ClinGen gnomAD

No associated diseases with Q6ZT98

No regional properties for Q6ZT98

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q6ZT98

Functions

		Description
EC Number
Subcellular Localization	Cell projection, cilium Cytoplasm, cytoskeleton, cilium basal body Cell projection, dendrite Perikaryon	In cells with primary cilia, found in both cilia and basal bodies In neuronal cells, found in dendrites and perikaryon
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
cilium	A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
dendrite	A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
microtubule	Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle.
perikaryon	The portion of the cell soma (neuronal cell body) that excludes the nucleus.

6 GO annotations of molecular function

Name	Definition
alpha-tubulin binding	Binding to the microtubule constituent protein alpha-tubulin.
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
beta-tubulin binding	Binding to the microtubule constituent protein beta-tubulin.
metal ion binding	Binding to a metal ion.
tubulin binding	Binding to monomeric or multimeric forms of tubulin, including microtubules.
tubulin-glutamic acid ligase activity	Catalysis of the posttranslational transfer of one or more glutamate residues to the gamma-carboxyl group(s) of one or more specific glutamate residues on a tubulin molecule.

4 GO annotations of biological process

Name	Definition
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.
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.
nervous system development	The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.
protein polyglutamylation	The addition of one or more alpha-linked glutamyl units to the gamma carboxyl group of peptidyl-glutamic acid.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9BWV7	TTLL2	Probable tubulin polyglutamylase TTLL2	Homo sapiens (Human)	PR
Q14679	TTLL4	Tubulin monoglutamylase TTLL4	Homo sapiens (Human)	PR
Q3SXZ7	TTLL9	Probable tubulin polyglutamylase TTLL9	Homo sapiens (Human)	PR
A4Q9F4	Ttll11	Tubulin polyglutamylase TTLL11	Mus musculus (Mouse)	PR
A4Q9F0	Ttll7	Tubulin polyglutamylase TTLL7	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MPSLPQEGVI	QGPSPLDLNT	ELPYQSTMKR	KVRKKKKKGT	ITANVAGTKF	EIVRLVIDEM
70	80	90	100	110	120
GFMKTPDEDE	TSNLIWCDSA	VQQEKISELQ	NYQRINHFPG	MGEICRKDFL	ARNMTKMIKS
130	140	150	160	170	180
RPLDYTFVPR	TWIFPAEYTQ	FQNYVKELKK	KRKQKTFIVK	PANGAMGHGI	SLIRNGDKLP
190	200	210	220	230	240
SQDHLIVQEY	IEKPFLMEGY	KFDLRIYILV	TSCDPLKIFL	YHDGLVRMGT	EKYIPPNESN
250	260	270	280	290	300
LTQLYMHLTN	YSVNKHNEHF	ERDETENKGS	KRSIKWFTEF	LQANQHDVAK	FWSDISELVV
310	320	330	340	350	360
KTLIVAEPHV	LHAYRMCRPG	QPPGSESVCF	EVLGFDILLD	RKLKPWLLEI	NRAPSFGTDQ
370	380	390	400	410	420
KIDYDVKRGV	LLNALKLLNI	RTSDKRRNLA	KQKAEAQRRL	YGQNSIKRLL	PGSSDWEQQR
430	440	450	460	470	480
HQLERRKEEL	KERLAQVRKQ	ISREEHENRH	MGNYRRIYPP	EDKALLEKYE	NLLAVAFQTF
490	500	510	520	530	540
LSGRAASFQR	ELNNPLKRMK	EEDILDLLEQ	CEIDDEKLMG	KTTKTRGPKP	LCSMPESTEI
550	560	570	580	590	600
MKRPKYCSSD	SSYDSSSSSS	ESDENEKEEY	QNKKREKQVT	YNLKPSNHYK	LIQQPSSIRR
610	620	630	640	650	660
SVSCPRSISA	QSPSSGDTRP	FSAQQMISVS	RPTSASRSHS	LNRASSYMRH	LPHSNDACST
670	680	690	700	710	720
NSQVSESLRQ	LKTKEQEDDL	TSQTLFVLKD	MKIRFPGKSD	AESELLIEDI	IDNWKYHKTK
730	740	750	760	770	780
VASYWLIKLD	SVKQRKVLDI	VKTSIRTVLP	RIWKVPDVEE	VNLYRIFNRV	FNRLLWSRGQ
790	800	810	820	830	840
GLWNCFCDSG	SSWESIFNKS	PEVVTPLQLQ	CCQRLVELCK	QCLLVVYKYA	TDKRGSLSGI
850	860	870	880
GPDWGNSRYL	LPGSTQFFLR	TPTYNLKYNS	PGMTRSNVLF	TSRYGHL