AiPD: Autoinhibited Protein Database

P26639

Gene name	TARS1
Protein name	Threonine--tRNA ligase 1, cytoplasmic
Names	Threonyl-tRNA synthetase, ThrRS, Threonyl-tRNA synthetase 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6897
EC number	6.1.1.3: Ligases forming aminoacyl-tRNA and related compounds
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-71 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-71 (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

6 structures for P26639

Entry ID	Method	Resolution	Chain	Position	Source
1WWT	NMR	-	A	79-153	PDB
4HWT	X-ray	230 A	A/B	321-723	PDB
4P3N	X-ray	260 A	A/B/C/D	322-723	PDB
4TTV	X-ray	280 A	A/B/C/D	322-723	PDB
5XLN	X-ray	190 A	B	30-74	PDB
AF-P26639-F1	Predicted				AlphaFoldDB

581 variants for P26639

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV002489370 rs34334786 CA3222884 RCV000963842 VAR_034533	21	G>D	Trichothiodystrophy 7, nonphotosensitive [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1579584983 VAR_083226 CA359371263 RCV000850113	227	L>P	Trichothiodystrophy 7, nonphotosensitive TTD7; loss of protein stability; loss of threonine-tRNA ligase activity [ClinVar, UniProt]	Yes	ClinGen ClinVar Ensembl dbSNP UniProt
CA359371749 RCV000850112 VAR_083227 rs1579585658	276	K>E	Trichothiodystrophy 7, nonphotosensitive TTD7 [ClinVar, UniProt]	Yes	ClinGen ClinVar Ensembl dbSNP UniProt
COSM1228500 RCV000850111 CA3223553 rs749888012	638	R>*	large_intestine Trichothiodystrophy 7, nonphotosensitive [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
VAR_083228	638	R>del	TTD7 [UniProt]	Yes	UniProt
CA3222847 rs140425307	2	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA116797075 rs371840466	3	E>K		No	ClinGen ESP
rs760609246 CA3222848 COSM1067340	4	E>D	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA116797082 rs911337075	4	E>K		No	ClinGen TOPMed
rs1243707446 CA359366587	5	K>E		No	ClinGen TOPMed
TCGA novel	5	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3222851 rs761507268	6	A>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs776528686 CA3222850	6	A>T		No	ClinGen ExAC TOPMed gnomAD
rs374841973 CA3222852	9	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs772784895 CA3222853	10	S>T		No	ClinGen ExAC gnomAD
rs762483499 CA3222854	13	M>I		No	ClinGen ExAC TOPMed gnomAD
CA359366641 rs1387811902	13	M>T		No	ClinGen gnomAD
TCGA novel	14	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3222856 rs200273270	15	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA359366681 rs1230371441	19	P>A		No	ClinGen gnomAD
rs144362717 CA359366684	19	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs144362717 CA3222860	19	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1283569810 CA359366711	22	A>T		No	ClinGen gnomAD
rs1472520821 CA359366716	22	A>V		No	ClinGen gnomAD
rs866704109 CA116801452	23	G>S		No	ClinGen Ensembl
TCGA novel	24	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA116801496 rs945013800	27	Q>R		No	ClinGen TOPMed gnomAD
CA359366761 rs1217896175	29	E>K		No	ClinGen gnomAD
rs781222764 CA3222888	31	G>A		No	ClinGen ExAC gnomAD
rs200840183 CA116801531	33	K>R		No	ClinGen 1000Genomes
rs376051187 CA3222892	38	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA359366831 rs376051187	38	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs773033351 CA3222893	40	G>E		No	ClinGen ExAC TOPMed gnomAD
rs770631613 CA3222895	41	D>E		No	ClinGen ExAC TOPMed gnomAD
rs749081016 CA3222894	41	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1231149845 CA359366844	41	D>N		No	ClinGen gnomAD
rs1488019291 CA359366855	42	G>E		No	ClinGen TOPMed
rs1219450894 CA359366850	42	G>R		No	ClinGen gnomAD
rs937500662 COSM1437066 CA116801550	43	G>D	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA3222896 rs773821743	44	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA359366861 rs773821743	44	R>G		No	ClinGen ExAC TOPMed gnomAD
CA3222897 rs759086547	44	R>Q		No	ClinGen ExAC gnomAD
rs771439420 CA3222898	45	A>T		No	ClinGen ExAC gnomAD
CA359366869 rs1414817155	46	E>K		No	ClinGen gnomAD
rs375908849 CA3222933	49	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs571785357 CA3222934	49	P>L		No	ClinGen ExAC TOPMed gnomAD
rs370841548 CA3222936	55	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA116804388 rs374187620	57	R>H		No	ClinGen ESP TOPMed
CA359367835 rs374187620	57	R>L		No	ClinGen ESP TOPMed
rs771686736 CA3222937	59	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1357624319 CA359367868	62	N>D		No	ClinGen gnomAD
rs149964628 CA3222940	63	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA3222939 rs201833764	63	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3222942 rs145179934	66	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1327934131 CA359367898	67	E>K		No	ClinGen gnomAD
CA3222944 rs774648231	68	H>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	69	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA116804457 rs974713441	70	S>F		No	ClinGen Ensembl
rs921916664 CA116804462	71	I>V		No	ClinGen TOPMed gnomAD
CA3222945 rs376476835	72	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs146538659 CA3222947 RCV000950677	77	E>D		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA359367968 rs1237780587	77	E>G		No	ClinGen TOPMed gnomAD
rs1417165863 CA359368026	82	P>L		No	ClinGen TOPMed
rs1185790804 CA359368033	83	I>V		No	ClinGen TOPMed
CA359368104 rs1411134136	88	P>H		No	ClinGen gnomAD
rs1160345555 CA359368147	90	G>D		No	ClinGen gnomAD
CA3222950 rs567512853	90	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	91	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3222951 rs757178975	92	Q>K		No	ClinGen ExAC gnomAD
rs765214255 CA3222952	93	V>F		No	ClinGen ExAC TOPMed gnomAD
CA3222953 rs141305584	95	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3222954 rs141305584	95	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3222956 rs746620100	98	W>R		No	ClinGen ExAC TOPMed gnomAD
rs370960165 CA3222958	100	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs754655606 CA3222957	100	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1285976224 CA359368379	101	T>I		No	ClinGen gnomAD
CA359368389 rs1409937382	102	P>S		No	ClinGen gnomAD
CA359368421 rs1342457563	103	Y>C		No	ClinGen TOPMed gnomAD
rs771402412 CA3222960	104	Q>E		No	ClinGen ExAC gnomAD
rs774866665 CA3222961	105	I>L		No	ClinGen ExAC TOPMed gnomAD
CA116804598 rs931088234	106	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA3222962 rs140613735	109	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1169470178 CA359368563	110	S>N		No	ClinGen TOPMed
CA359369600 rs954761409	111	Q>*		No	ClinGen gnomAD
CA116808523 rs954761409	111	Q>K		No	ClinGen gnomAD
CA359369620 rs1471353545	112	G>D		No	ClinGen gnomAD
TCGA novel	114	A>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1364051493 CA359369645	114	A>S		No	ClinGen gnomAD
rs758973733 CA3223008	114	A>V		No	ClinGen ExAC gnomAD
CA3223010 rs145788981	115	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3223011 rs768944528	117	T>A		No	ClinGen ExAC gnomAD
CA359369695 rs1385774643	117	T>I		No	ClinGen TOPMed
CA116808569 rs11541416	118	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3223013 rs11541416 RCV000889531	118	V>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA359369718 rs1307739947	119	I>F		No	ClinGen TOPMed gnomAD
rs769876534 CA3223014	119	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1307739947 CA359369716	119	I>V		No	ClinGen TOPMed gnomAD
CA359369731 rs1162360720	120	A>P		No	ClinGen TOPMed
rs771003139 CA3223017	121	K>E		No	ClinGen ExAC gnomAD
rs774360891 CA3223018	126	V>G		No	ClinGen ExAC gnomAD
CA3223019 rs759432043	127	W>*		No	ClinGen ExAC gnomAD
rs1482993313 CA359369840	128	D>V		No	ClinGen gnomAD
rs1466918608 CA359369875	131	R>C		No	ClinGen TOPMed gnomAD
CA3223020 COSM185937 rs767290886	131	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3223022 rs760419283	132	P>L		No	ClinGen ExAC gnomAD
rs752407851 CA3223021	132	P>S		No	ClinGen ExAC gnomAD
TCGA novel	136	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359369936 rs763653176	136	D>G		No	ClinGen ExAC TOPMed gnomAD
CA359369931 rs1247490340	136	D>H		No	ClinGen TOPMed
CA3223023 rs763653176	136	D>V		No	ClinGen ExAC TOPMed gnomAD
rs753448647 CA3223024	138	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1175225657 CA359369962	138	T>I		No	ClinGen gnomAD
CA359369994 rs1322718041	141	L>F		No	ClinGen TOPMed
CA116808635 rs569001039	146	D>N		No	ClinGen 1000Genomes TOPMed gnomAD
CA359370071 rs1226797199	147	E>G		No	ClinGen TOPMed
CA3223026 rs780546165	148	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs759139113 CA3223027	148	E>V		No	ClinGen ExAC gnomAD
rs1371940587 CA359370101	149	A>V		No	ClinGen gnomAD
rs1561072462 CA359370109	150	Q>P		No	ClinGen Ensembl
rs755358781 CA3223028	151	A>S		No	ClinGen ExAC TOPMed gnomAD
rs755358781 CA3223029	151	A>T		No	ClinGen ExAC TOPMed gnomAD
CA3223048 rs557847497	152	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA3223047 rs557847497	152	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1421610642 CA359370740	153	Y>C		No	ClinGen gnomAD
rs760969839 CA116809895	154	W>*		No	ClinGen Ensembl
CA359370745 rs1286053219	154	W>G		No	ClinGen gnomAD
rs749470309 CA3223050	157	S>G		No	ClinGen ExAC gnomAD
CA359370771 rs1182461584	157	S>R		No	ClinGen TOPMed
CA359370784 rs757527382	159	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA359370790 rs1203105093	160	I>T		No	ClinGen TOPMed
CA359370787 rs1463073648	160	I>V		No	ClinGen gnomAD
CA116809918 rs551880861	166	E>D		No	ClinGen Ensembl
TCGA novel	167	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779169494 CA3223053	167	R>G		No	ClinGen ExAC gnomAD
rs959712804 CA116809949	168	V>I		No	ClinGen Ensembl
rs1388151803 CA359370853	169	Y>C		No	ClinGen gnomAD
CA3223054 rs745942630	170	G>S		No	ClinGen ExAC TOPMed gnomAD
rs540451433 CA116809952	172	C>Y		No	ClinGen 1000Genomes
CA359370875 rs1380564826	173	L>I		No	ClinGen TOPMed
CA359370883 rs1213976975	174	C>R		No	ClinGen gnomAD
TCGA novel	175	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746827184 CA3223057	176	G>S		No	ClinGen ExAC gnomAD
CA3223058 rs768297886	177	P>L		No	ClinGen ExAC TOPMed gnomAD
CA359370920 rs1561073383	179	I>M		No	ClinGen Ensembl
CA3223059 rs776290053	184	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1187217006 CA359370963	185	Y>*		No	ClinGen gnomAD
rs982320984 CA116809998	185	Y>C		No	ClinGen TOPMed gnomAD
rs1243574943 CA359370958	185	Y>H		No	ClinGen gnomAD
CA359370978 CA359370979 rs1476256466	187	M>I		No	ClinGen gnomAD
CA3223061 rs143392153	187	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA359370985 rs1579584394	188	Y>C		No	ClinGen Ensembl
CA359370982 rs1376299528	188	Y>D		No	ClinGen gnomAD
TCGA novel	189	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3223062 rs147141129	190	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA116810015 rs147141129	190	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	192	G>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs554023622 CA359371031	193	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs554023622 CA3223084	193	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754316201 CA3223085	197	N>K		No	ClinGen ExAC gnomAD
rs1284689906 CA359371057	197	N>S		No	ClinGen gnomAD
rs762214868 CA3223086	201	S>F		No	ClinGen ExAC gnomAD
rs1579584899 CA359371082	201	S>P		No	ClinGen Ensembl
CA3223088 rs765563038	206	C>S		No	ClinGen ExAC gnomAD
CA359371123 rs1272192724	207	K>T		No	ClinGen gnomAD
CA3223089 rs750573851	208	K>E		No	ClinGen ExAC gnomAD
rs967459915 CA116814956	210	I>T		No	ClinGen Ensembl
TCGA novel	212	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758528588 CA3223090	214	Q>R		No	ClinGen ExAC gnomAD
CA359371184 rs1401162807	215	A>D		No	ClinGen TOPMed
CA359371201 rs1488570458	218	R>G		No	ClinGen gnomAD
rs751627819 CA3223092	221	V>I		No	ClinGen ExAC TOPMed gnomAD
rs754976368 CA3223094	222	K>R		No	ClinGen ExAC gnomAD
CA359371234 rs1167886674	223	K>E		No	ClinGen gnomAD
CA116814968 rs1012779761	224	E>D		No	ClinGen TOPMed gnomAD
CA3223095 rs199604065	225	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA359371265 rs1410062971	228	A>T		No	ClinGen TOPMed gnomAD
rs1391842204 CA359371276	229	M>I		No	ClinGen gnomAD
CA3223096 rs188173439	229	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs373138685 CA3223123	233	N>D		No	ClinGen ESP ExAC gnomAD
CA3223124 rs373138685	233	N>H		No	ClinGen ESP ExAC gnomAD
CA116815080 rs779723175 COSM3393531	233	N>K	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs748715234 CA3223126	233	N>S		No	ClinGen ExAC TOPMed gnomAD
CA3223125 rs373138685	233	N>Y		No	ClinGen ESP ExAC gnomAD
TCGA novel	234	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1281063815 CA359371323	234	K>N		No	ClinGen TOPMed
rs919877095 CA116815082	234	K>R		No	ClinGen TOPMed
rs1402202743 CA359371331	235	F>L		No	ClinGen gnomAD
TCGA novel	236	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3223129 COSM3787054 rs140359049	238	R>Q	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs770395787 CA3223127 COSM1267416	238	R>W	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs766513834 CA3223130	241	N>K		No	ClinGen ExAC gnomAD
rs1246495880 CA359371374	242	E>A		No	ClinGen gnomAD
rs774592689 CA3223131	242	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs759633547 CA3223132	244	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1579585415 CA359371393	245	N>D		No	ClinGen Ensembl
CA3223135 rs756108779	248	T>S		No	ClinGen ExAC gnomAD
CA3223134 rs752739838	248	T>S		No	ClinGen ExAC gnomAD
rs1561074061 CA359371427	250	T>I		No	ClinGen Ensembl
rs757014362 CA3223138	252	Y>C		No	ClinGen ExAC gnomAD
rs753591883 CA359371434	252	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs753591883 CA3223137	252	Y>N		No	ClinGen ExAC TOPMed gnomAD
CA359371440 rs1199740494	253	R>G		No	ClinGen TOPMed gnomAD
rs1479400845 CA359371490	256	P>A		No	ClinGen gnomAD
rs1316289305 CA359371498	257	L>M		No	ClinGen TOPMed
TCGA novel	261	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3223155 rs148464176	262	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs539387625 CA3223153	262	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed
rs753773481 CA3223157	265	H>L		No	ClinGen ExAC gnomAD
rs765132514 CA359371663	269	T>A		No	ClinGen ExAC TOPMed gnomAD
CA116815123 rs868466214	269	T>K		No	ClinGen TOPMed
rs868466214 CA116815125	269	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs765132514 CA3223159	269	T>S		No	ClinGen ExAC TOPMed gnomAD
CA3223163 rs779839388	270	G>D		No	ClinGen ExAC
CA359371673 rs758193696	270	G>R		No	ClinGen ExAC gnomAD
CA3223161 rs758193696	270	G>S		No	ClinGen ExAC gnomAD
CA359371689 rs1439059131	271	K>T		No	ClinGen gnomAD
rs938230601 CA116815130	274	A>D		No	ClinGen TOPMed gnomAD
TCGA novel	276	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751129523 CA3223164	277	I>L		No	ClinGen ExAC
rs148961376 CA3223165	278	H>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA116815134 rs148961376	278	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA359371783 rs1158669484	279	K>Q		No	ClinGen TOPMed
rs1236928609 CA359371790	279	K>R		No	ClinGen gnomAD
rs1310133770 CA359371888	280	N>Y		No	ClinGen TOPMed gnomAD
rs1265222175 CA359371909	281	S>Y		No	ClinGen gnomAD
COSM1486717 CA3223192 rs747309785	283	T>M	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3223195 rs748163038	286	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1463158415 CA359371974	287	G>A		No	ClinGen gnomAD
rs773217815 CA3223197	288	K>R		No	ClinGen ExAC gnomAD
rs1561074985 CA359371993	290	D>G		No	ClinGen Ensembl
CA359372000 rs1260348685	291	M>T		No	ClinGen TOPMed gnomAD
rs762860954 CA3223198	291	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3223199 rs151002126	294	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA3223200 rs774256480	295	Q>R		No	ClinGen ExAC gnomAD
CA359372031 rs1276711784	296	R>G		No	ClinGen TOPMed
CA359372039 rs1355709795	297	I>V		No	ClinGen gnomAD
rs1281662897 CA359372060	300	I>V		No	ClinGen gnomAD
CA359372074 rs1257156397	301	S>*		No	ClinGen TOPMed gnomAD
rs1484274849 CA359372102	303	P>R		No	ClinGen gnomAD
TCGA novel	303	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA116815411 rs139622659	311	W>*		No	ClinGen ESP
rs1579586742 CA359372226	311	W>G		No	ClinGen Ensembl
TCGA novel	311	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199693707 CA3223205	312	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs371901086 CA3223206	313	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs758885431 CA3223207	314	F>S		No	ClinGen ExAC gnomAD
CA3223209 rs747331057	315	Q>R		No	ClinGen ExAC gnomAD
CA3223210 rs368506094	316	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA3223212 rs748265985	317	E>K		No	ClinGen ExAC TOPMed gnomAD
CA3223214 rs202065614	321	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA359372392 rs1375568268	321	R>Q		No	ClinGen gnomAD
TCGA novel	324	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359372464 rs1277437367	326	I>L		No	ClinGen gnomAD
rs1224134809 CA359372476	326	I>M		No	ClinGen gnomAD
rs143542411 CA3223215	326	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA359372482 rs1311109831	327	G>C		No	ClinGen gnomAD
CA3223241 rs775337067	330	Q>E		No	ClinGen ExAC gnomAD
TCGA novel	330	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1418256196 CA359372966	331	E>K		No	ClinGen gnomAD
rs1236687886 CA359372975	332	L>V		No	ClinGen TOPMed
CA359372999 rs1172433396	335	F>S		No	ClinGen gnomAD
rs1391766251 CA359373008	336	H>Q		No	ClinGen gnomAD
CA116815685 rs1033602271	336	H>R		No	ClinGen TOPMed
rs768296338 CA3223243	338	L>F		No	ClinGen ExAC gnomAD
CA359373026 rs369785482	339	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA3223245 rs369785482	339	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA359373043 rs1338880250	342	S>G		No	ClinGen gnomAD
CA116815693 rs775716968	343	C>S		No	ClinGen TOPMed gnomAD
rs146798520 CA3223248	347	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1334362284 CA359373097	350	A>T		No	ClinGen gnomAD
CA116815695 rs1051210	350	A>V		No	ClinGen gnomAD
CA3223249 rs767810651	352	I>V		No	ClinGen ExAC gnomAD
rs140610365 CA3223250	353	Y>F		No	ClinGen ESP ExAC gnomAD
rs1243176202 CA359373139	356	L>F		No	ClinGen gnomAD
rs778079793 CA3223252	357	I>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	358	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3223253 rs753968059	358	E>K		No	ClinGen ExAC gnomAD
CA359373157 rs1415215995	359	F>L		No	ClinGen gnomAD
rs1306750870 CA359373160	359	F>S		No	ClinGen TOPMed
rs1441185393 CA359373165	360	I>V		No	ClinGen TOPMed
rs757476719	362	S>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1195785300 CA359374159	362	S>N		No	ClinGen TOPMed
CA3223275 rs778902657	363	E>*		No	ClinGen ExAC TOPMed gnomAD
rs778902657 CA3223274	363	E>K		No	ClinGen ExAC TOPMed gnomAD
CA359374174 rs778902657	363	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA359374210 rs1310993389	364	Y>*		No	ClinGen gnomAD
CA3223276 rs758329123	364	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1374971149 CA359374214	365	R>G		No	ClinGen TOPMed gnomAD
CA359374225 rs1396658551	365	R>T		No	ClinGen gnomAD
rs943601168 CA116815896	366	K>T		No	ClinGen TOPMed
COSM449554 CA359374263 rs1332680642	367	R>K	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs779984744 CA3223277	370	Q>*		No	ClinGen ExAC gnomAD
rs1238780009 CA359374373	372	V>A		No	ClinGen gnomAD
rs371169686 CA3223278	372	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA116815899 rs371169686	372	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1397224410 CA359374398	374	T>I		No	ClinGen TOPMed
CA359374391 rs1579588943	374	T>P		No	ClinGen Ensembl
CA3223280 rs754730087	375	P>S		No	ClinGen ExAC gnomAD
CA359374437 rs1280205591	377	I>F		No	ClinGen gnomAD
CA3223281 rs780846809	379	N>S		No	ClinGen ExAC TOPMed gnomAD
CA359374476 rs780846809	379	N>T		No	ClinGen ExAC TOPMed gnomAD
CA116815906 rs754137794	381	R>*		No	ClinGen TOPMed gnomAD
CA3223282 rs747836758	381	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs769482579 CA3223283	383	W>G		No	ClinGen ExAC gnomAD
rs996780252 CA116815912	386	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	387	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359374671 rs1441284886	390	Q>*		No	ClinGen gnomAD
rs761139882 CA3223288	392	Y>C		No	ClinGen ExAC gnomAD
CA3223291 rs560095639	394	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs765488073 CA3223292	395	N>Y		No	ClinGen ExAC gnomAD
CA359374806 rs1251859030	396	M>I		No	ClinGen TOPMed
rs1345178540 CA359374864	400	E>Q		No	ClinGen TOPMed
CA3223295 rs766335205	401	V>E		No	ClinGen ExAC TOPMed gnomAD
rs758436657 CA3223294	401	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1303359197 CA359374939	404	E>A		No	ClinGen gnomAD
rs751451024 CA3223296	405	L>P		No	ClinGen ExAC gnomAD
rs751451024 CA359374954	405	L>Q		No	ClinGen ExAC gnomAD
rs781030664 CA3223298	407	A>T		No	ClinGen ExAC gnomAD
TCGA novel	410	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359375033 rs1336879785	410	P>S		No	ClinGen gnomAD
rs753194145 CA116815928	411	M>T		No	ClinGen Ensembl
TCGA novel	411	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA116815930 rs1016675289	416	H>D		No	ClinGen TOPMed
CA359375378 rs1287656403	420	F>Y		No	ClinGen gnomAD
rs753574055 CA3223320	421	D>G		No	ClinGen ExAC gnomAD
rs1278208517 CA359375418	422	H>R		No	ClinGen gnomAD
CA3223321 rs756937101	422	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3223322 rs778635791	423	R>W		No	ClinGen ExAC TOPMed gnomAD
CA359375454 rs145335131	424	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145335131 CA3223323	424	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs963556470 CA116816210	426	S>C		No	ClinGen TOPMed gnomAD
rs963556470 CA359375486	426	S>F		No	ClinGen TOPMed gnomAD
CA359375512 rs1223432365	428	R>*		No	ClinGen gnomAD
rs1019253370 CA116816213	428	R>Q		No	ClinGen gnomAD
CA359375520 rs1487889816	429	E>K		No	ClinGen TOPMed gnomAD
CA359375522 rs1487889816	429	E>Q		No	ClinGen TOPMed gnomAD
CA3223325 rs781739444	430	L>V		No	ClinGen ExAC TOPMed gnomAD
CA116816218 rs972611266	431	P>S		No	ClinGen TOPMed gnomAD
CA359375587 rs1425960878	433	R>Q		No	ClinGen TOPMed gnomAD
CA3223328 rs773427409	433	R>W		No	ClinGen ExAC TOPMed gnomAD
CA359375611 rs1207975516	435	A>G		No	ClinGen TOPMed
CA359375625 rs1579590191	436	D>G		No	ClinGen Ensembl
rs1247033894 CA359375651	437	F>L		No	ClinGen gnomAD
rs1329744328 CA359375637	437	F>V		No	ClinGen TOPMed
CA359375658 rs1579590201	438	G>W		No	ClinGen Ensembl
CA3223329 rs763278615	439	V>E		No	ClinGen ExAC TOPMed gnomAD
CA359375679 rs763278615	439	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1579590205 CA359375672	439	V>L		No	ClinGen Ensembl
rs1363740047 CA359375734	443	N>S		No	ClinGen gnomAD
rs774427067 CA3223331	444	E>K		No	ClinGen ExAC gnomAD
CA359375745 rs1361944245	445	L>M		No	ClinGen gnomAD
rs1361944245 CA359375746	445	L>V		No	ClinGen gnomAD
CA359375759 rs1301917644	447	G>E		No	ClinGen gnomAD
CA359375780 rs1450482507	451	G>R		No	ClinGen TOPMed
rs1051213 CA3223335	453	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1240840651 CA359375800	454	R>L		No	ClinGen gnomAD
rs1240840651 CA359375798	454	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3223336 rs148364973	454	R>W		No	ClinGen ESP ExAC gnomAD
CA3223337 rs143325873	456	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs377349974 CA116816236	456	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs778654096 CA3223339	461	D>G		No	ClinGen ExAC gnomAD
rs749961962 CA3223340	464	H>P		No	ClinGen ExAC gnomAD
CA116816240 rs1057467776	464	H>Y		No	ClinGen TOPMed
rs542606428 CA3223342	465	I>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1412444954 CA359375870	465	I>V		No	ClinGen TOPMed
CA359375895 rs1561077518	468	A>V		No	ClinGen Ensembl
rs748740098 CA3223343	469	M>V		No	ClinGen ExAC gnomAD
CA359375904 rs770171979	470	E>K		No	ClinGen ExAC TOPMed gnomAD
CA3223344 rs770171979	470	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1348741607 CA359375935	472	I>T		No	ClinGen TOPMed
CA359375947 rs1168128148	474	D>H		No	ClinGen gnomAD
rs1292357414 CA359375955	475	E>*		No	ClinGen TOPMed gnomAD
CA3223365 rs778072914	476	I>K		No	ClinGen ExAC
CA3223364 rs756656153	476	I>L		No	ClinGen ExAC gnomAD
rs749683651 CA3223366	477	K>E		No	ClinGen ExAC gnomAD
rs757567962 CA3223367	478	G>D		No	ClinGen ExAC gnomAD
CA359375975 rs1435752561	478	G>R		No	ClinGen gnomAD
CA359375981 rs1369876027	479	C>G		No	ClinGen TOPMed gnomAD
rs375360008 CA3223369	484	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA3223370 rs201782158	484	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA116816283 rs779196713	485	T>A		No	ClinGen Ensembl
CA3223371 rs373201632 COSM3702797	485	T>M	Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs138683959 CA116816289	487	Y>H		No	ClinGen ESP
TCGA novel	488	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768646727 CA3223374	488	S>R		No	ClinGen ExAC TOPMed gnomAD
CA3223375 rs200231127	489	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA116816294 rs768634554	491	G>*		No	ClinGen Ensembl
CA359376097 rs1247257268	497	N>D		No	ClinGen TOPMed
rs1477975002 CA359376105	498	L>V		No	ClinGen gnomAD
rs765173851 CA3223376	501	R>C		No	ClinGen ExAC TOPMed gnomAD
rs773111470 CA3223377	501	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA116816299 COSM1267417 rs750937979	502	P>L	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
rs762764012 CA3223378	502	P>S		No	ClinGen ExAC gnomAD
TCGA novel	503	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751081838 CA3223380	504	K>E		No	ClinGen ExAC gnomAD
TCGA novel	505	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	505	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1344682664 CA359376153	506	L>I		No	ClinGen TOPMed
rs199969208 CA116816304	507	G>E		No	ClinGen Ensembl
CA3223382 rs764680718	508	D>G		No	ClinGen ExAC gnomAD
rs993833764 CA116816306	508	D>N		No	ClinGen Ensembl
CA3223383 rs199696171	509	I>L		No	ClinGen 1000Genomes ExAC
CA3223384 rs138597675	509	I>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3223385 rs138597675	509	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3223388 rs780075241	510	E>D		No	ClinGen ExAC gnomAD
rs1368892669 CA359376174	510	E>K		No	ClinGen TOPMed
CA3223389 rs747144525	511	V>I		No	ClinGen ExAC gnomAD
CA359376189 rs1295864189	512	W>*		No	ClinGen TOPMed
rs768569803 CA3223390	513	D>N		No	ClinGen ExAC gnomAD
rs1023867971 CA116816315	517	K>R		No	ClinGen TOPMed
CA116816362 rs944903342	520	E>G		No	ClinGen Ensembl
CA3223405 rs758652016	521	N>S		No	ClinGen ExAC TOPMed gnomAD
CA3223407 rs751777811	525	E>A		No	ClinGen ExAC TOPMed gnomAD
CA3223408 rs755200763	527	G>D		No	ClinGen ExAC gnomAD
rs200719574 CA116816368	531	E>D		No	ClinGen gnomAD
CA359376443 rs1159911453	531	E>Q		No	ClinGen TOPMed
rs1239030205 CA359376468	533	N>H		No	ClinGen gnomAD
rs1437567378 CA359376481	533	N>K		No	ClinGen gnomAD
CA359376496 rs1157998701	535	G>R		No	ClinGen gnomAD
CA3223410 rs748228577	536	D>N		No	ClinGen ExAC gnomAD
CA3223412 rs777810847	540	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	541	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3223433 rs770896386	545	D>N		No	ClinGen ExAC gnomAD
CA359376683 rs1293413708	546	I>M		No	ClinGen TOPMed
CA359376679 rs1488553292	546	I>T		No	ClinGen TOPMed
CA3223434 rs72737350	546	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs866639581 CA116816421	547	Q>K		No	ClinGen Ensembl
CA116816423 rs144046461	547	Q>R		No	ClinGen ESP gnomAD
CA359376726 rs1210129342	550	D>G		No	ClinGen TOPMed gnomAD
rs771714939 CA116816427	551	A>E		No	ClinGen ExAC TOPMed gnomAD
rs771714939 CA3223436	551	A>G		No	ClinGen ExAC TOPMed gnomAD
CA3223435 rs745617137	551	A>T		No	ClinGen ExAC TOPMed gnomAD
rs771714939 CA116816430	551	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3223438 rs529933981	552	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA359376766 rs1258551672	554	R>Q		No	ClinGen gnomAD
CA359376763 rs1197612439	554	R>W		No	ClinGen gnomAD
rs368438540 CA3223440	558	C>S		No	ClinGen ESP ExAC gnomAD
rs370730908 CA3223441	560	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1433872437 CA359376868	562	Q>R		No	ClinGen gnomAD
rs766900497 CA3223442	563	L>M		No	ClinGen ExAC gnomAD
CA3223443 rs774595361	564	D>N		No	ClinGen ExAC gnomAD
rs774595361 CA359376883	564	D>Y		No	ClinGen ExAC gnomAD
CA3223445 rs759937236	565	F>L		No	ClinGen ExAC gnomAD
rs767871535 CA3223446	571	F>Y		No	ClinGen ExAC gnomAD
CA3223448 rs549703883	575	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs541560329 CA116816447	575	Y>N		No	ClinGen gnomAD
rs775988386 CA3223471	577	S>R		No	ClinGen ExAC TOPMed gnomAD
CA359377068 rs761035547	578	H>L		No	ClinGen ExAC TOPMed gnomAD
CA3223472 COSM1543773 rs761035547	578	H>R	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3223473 rs112666038	580	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138936240 CA3223474 RCV000948291	580	G>D		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs138936240 CA3223475	580	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA116816483 rs1131566	581	D>E		No	ClinGen Ensembl
CA359377087 rs1353117372	581	D>G		No	ClinGen gnomAD
rs1561078348 CA359377093	582	D>E		No	ClinGen Ensembl
rs765111664 CA3223477	582	D>G		No	ClinGen ExAC TOPMed gnomAD
rs765111664 CA3223476	582	D>V		No	ClinGen ExAC TOPMed gnomAD
CA116816488 rs753104389	584	K>R		No	ClinGen Ensembl
CA359377113 rs1244073696	585	R>K		No	ClinGen gnomAD
rs895686885 CA116816490	588	I>T		No	ClinGen TOPMed gnomAD
CA359377147 rs1257352628	589	V>L		No	ClinGen gnomAD
rs763619049 CA3223480	591	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs763619049 CA3223479	591	R>G		No	ClinGen ExAC TOPMed gnomAD
CA359377177 rs1157410682 COSM3429383	591	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA3223483 rs780832275	600	M>I		No	ClinGen ExAC gnomAD
CA359377320 rs1204172536	600	M>V		No	ClinGen TOPMed
CA359377356 rs1464289879	601	I>M		No	ClinGen gnomAD
CA359377350 rs1346439359	601	I>T		No	ClinGen gnomAD
rs747645814 CA3223484	602	A>P		No	ClinGen ExAC TOPMed gnomAD
rs747645814 CA116816497	602	A>T		No	ClinGen ExAC TOPMed gnomAD
COSM1067347 CA359377370 rs1379683695	602	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA3223485 rs769392879	603	I>S		No	ClinGen ExAC TOPMed gnomAD
CA359377395 rs1306998315	604	L>F		No	ClinGen gnomAD
CA359377410 rs1209686861	605	T>A		No	ClinGen TOPMed gnomAD
CA116816504 rs1020104251	607	N>D		No	ClinGen TOPMed gnomAD
rs1340206608 CA359377457	607	N>K		No	ClinGen TOPMed
TCGA novel	608	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746440380 CA116816507	608	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA359377462 rs1335239033	608	Y>H		No	ClinGen TOPMed
CA3223487 rs746440380	608	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs761051908 CA3223490	610	G>S	Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3223492 rs776865288	612	W>S		No	ClinGen ExAC gnomAD
rs1422721263 CA359377802	615	W>C		No	ClinGen gnomAD
CA359377819 rs1451790654	618	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs76751197 CA3223522	619	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3223524 rs200082745	619	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3223525 rs200082745	619	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs76751197 CA3223523	619	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777500452 CA3223526	620	Q>K		No	ClinGen ExAC gnomAD
CA116816894 rs199907932	621	V>I		No	ClinGen TOPMed gnomAD
rs753428587 CA359377843	623	V>I		No	ClinGen ExAC TOPMed gnomAD
CA3223527 rs753428587	623	V>L		No	ClinGen ExAC TOPMed gnomAD
CA359377855 rs76371310	625	P>A		No	ClinGen gnomAD
CA116816897 rs76371310	625	P>S		No	ClinGen gnomAD
rs1183410606 CA359377859	626	V>M		No	ClinGen TOPMed
rs1554013562 CA3223530	629	T>A		No	ClinGen Ensembl
CA359377882 rs747593618	630	C>R		No	ClinGen ExAC TOPMed gnomAD
CA3223532 rs747593618	630	C>S		No	ClinGen ExAC TOPMed gnomAD
rs376685616 CA116816903	631	D>E		No	ClinGen Ensembl
rs1451597069 CA359377890	631	D>H		No	ClinGen gnomAD
rs1222946564 CA359377897	632	E>Q		No	ClinGen gnomAD
CA116816905 rs574983309	633	Y>F		No	ClinGen 1000Genomes gnomAD
CA3223535 rs781663957	636	K>N		No	ClinGen ExAC gnomAD
CA3223533 rs139554134	636	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1385759041 CA359378726 COSM1671562	637	V>A	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	637	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3223555 rs367801998	638	R>L		No	ClinGen ExAC TOPMed
rs367801998 CA359378733 COSM1437067	638	R>Q	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed
CA116817665 rs912379359	639	Q>R		No	ClinGen TOPMed
CA359378751 rs1454226466	640	Q>*		No	ClinGen gnomAD
CA3223557 rs748580962	641	F>L		No	ClinGen ExAC gnomAD
rs151055943 COSM1437068 CA3223559	643	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs375896160 CA3223560	645	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA116817675 rs919947757	646	F>L		No	ClinGen Ensembl
rs774498804 CA3223562	647	M>I		No	ClinGen ExAC gnomAD
CA3223561 rs771126238	647	M>V		No	ClinGen ExAC TOPMed gnomAD
CA116817682 rs546588359	648	A>G		No	ClinGen 1000Genomes gnomAD
rs745867928 CA3223563	648	A>T		No	ClinGen ExAC gnomAD
rs370837952 CA3223564	650	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1203990658 CA359378886	654	P>A		No	ClinGen gnomAD
rs775239361 CA3223565	655	G>D		No	ClinGen ExAC gnomAD
rs1158256440 CA359378899	656	C>Y		No	ClinGen gnomAD
CA359378912 rs1177897560	658	L>*		No	ClinGen gnomAD
rs776564391 CA3223568	659	N>S		No	ClinGen ExAC gnomAD
CA359378924 rs1471171055	660	K>E		No	ClinGen gnomAD
COSM176673 CA359378939 rs1171066561	661	K>N	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA3223570 rs761615950 COSM277597	663	R>*	Variant assessed as Somatic; 4.652e-05 impact. large_intestine breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs761615950 CA3223569	663	R>G		No	ClinGen ExAC TOPMed gnomAD
CA3223571 rs374182363	665	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA359378963 rs1398556330	666	Q>*		No	ClinGen TOPMed gnomAD
rs1217335481 CA359378977	667	L>F		No	ClinGen TOPMed
rs1346981997 CA359378978	668	A>S		No	ClinGen TOPMed
rs757810230 CA3223572	669	Q>*		No	ClinGen ExAC gnomAD
rs768094694 CA3223574	669	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs768094694 CA3223573	669	Q>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	671	N>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778166209 CA3223576	672	F>S		No	ClinGen ExAC gnomAD
CA359379047 rs1396947673	676	V>A		No	ClinGen TOPMed
CA359379043 rs1454689896	676	V>I		No	ClinGen TOPMed
TCGA novel	680	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1418654693 CA359379095	683	S>G		No	ClinGen TOPMed
rs140992582 CA3223600	683	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA359379104 rs1364430061	684	G>D		No	ClinGen gnomAD
rs878920949 CA116817859	686	V>I		No	ClinGen Ensembl
rs1304584710 CA359379128	688	I>F		No	ClinGen gnomAD
CA359379130 rs1337880960	688	I>T		No	ClinGen gnomAD
rs780056678 CA3223602	689	R>C		No	ClinGen ExAC gnomAD
COSM1067348 rs747030765 CA3223603	689	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3223605 rs781238413	691	R>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	692	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747981400 CA3223606	692	D>N		No	ClinGen ExAC gnomAD
rs769530358 CA3223607	693	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3223609 rs762567876	695	V>F		No	ClinGen ExAC gnomAD
CA359379178 rs1357491459	696	H>Y		No	ClinGen gnomAD
CA116817872 rs867579611	697	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs548981041 CA3223611	699	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3223612 rs200221822	699	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3223613 rs764605421	700	T>S		No	ClinGen ExAC gnomAD
rs886802224 CA116817877	701	I>T		No	ClinGen TOPMed
CA3223614 rs149814333	702	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	703	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359379218 rs1179855097	703	E>Q		No	ClinGen gnomAD
rs61734318 CA3223615	705	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1228498 rs551944947 CA3223617	706	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs551944947 CA116817883	706	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3223620 rs751721077	707	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3223618 rs758562694	707	R>W		No	ClinGen ExAC TOPMed gnomAD
rs755063298 CA3223622	709	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA3223621 rs755063298	709	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA116817891 rs201512233	711	L>H		No	ClinGen TOPMed
rs1474377223 CA359379292	714	F>L		No	ClinGen TOPMed
rs1579596888 CA359379288	714	F>V		No	ClinGen Ensembl
CA3223624 rs141834303	715	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs756077995 CA3223625	715	R>H		No	ClinGen ExAC TOPMed gnomAD
rs756077995 CA3223626	715	R>L		No	ClinGen ExAC TOPMed gnomAD
CA359379313 rs1282788419	718	Q>K		No	ClinGen TOPMed
CA3223627 rs749040895	718	Q>R		No	ClinGen ExAC gnomAD
rs770519358 CA3223628	719	A>T		No	ClinGen ExAC gnomAD
rs1244112442 CA359379325	720	E>K		No	ClinGen gnomAD
CA3223630 rs773941187	722	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs745495498 CA3223631	722	E>V		No	ClinGen ExAC TOPMed gnomAD

1 associated diseases with P26639

[MIM: 618546]: Trichothiodystrophy 7, non-photosensitive (TTD7)

A form of trichothiodystrophy, a disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD7 patients do not manifest cutaneous photosensitivity. They have cysteine- and threonine-deficient hair with alternating light and dark 'tiger-tail' banding pattern observed under polarization microscopy. Inheritance pattern is autosomal recessive. {ECO:0000269|PubMed:31374204}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of trichothiodystrophy, a disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD7 patients do not manifest cutaneous photosensitivity. They have cysteine- and threonine-deficient hair with alternating light and dark 'tiger-tail' banding pattern observed under polarization microscopy. Inheritance pattern is autosomal recessive. {ECO:0000269|PubMed:31374204}. Note=The disease is caused by variants affecting the gene represented in this entry.

7 regional properties for P26639

Type	Name	Position	InterPro Accession
domain	Aminoacyl-tRNA synthetase, class II (G/ P/ S/T)	402 - 608	IPR002314
domain	TGS	79 - 143	IPR004095
domain	Anticodon-binding	620 - 710	IPR004154
domain	Aminoacyl-tRNA synthetase, class II	347 - 613	IPR006195
domain	Threonyl/alanyl tRNA synthetase, SAD	249 - 298	IPR012947
domain	Threonine-tRNA ligase catalytic core domain	321 - 618	IPR033728
domain	Threonine-tRNA ligase, class IIa, anticodon-binding domain	618 - 709	IPR047246

Functions

		Description
EC Number	6.1.1.3	Ligases forming aminoacyl-tRNA and related compounds
Subcellular Localization	Cytoplasm
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.

5 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
identical protein binding	Binding to an identical protein or proteins.
threonine-tRNA ligase activity	Catalysis of the reaction: ATP + L-threonine + tRNA(Thr) = AMP + diphosphate + L-threonyl-tRNA(Thr).
tRNA binding	Binding to a transfer RNA.
zinc ion binding	Binding to a zinc ion (Zn).

1 GO annotations of biological process

Name	Definition
threonyl-tRNA aminoacylation	The process of coupling threonine to threonyl-tRNA, catalyzed by threonyl-tRNA synthetase. The threonyl-tRNA synthetase is a class-II synthetase. The activated amino acid is transferred to the 3'-OH group of a threonine-accetping tRNA.

8 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P07236	MST1	Threonine--tRNA ligase, mitochondrial	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
A6QNM8	TARS3	Threonine--tRNA ligase 2, cytoplasmic	Bos taurus (Bovine)	PR
Q9NYK5	MRPL39	39S ribosomal protein L39, mitochondrial	Homo sapiens (Human)	PR
Q3UQ84	Tars2	Threonine--tRNA ligase, mitochondrial	Mus musculus (Mouse)	PR
Q9JKF7	Mrpl39	39S ribosomal protein L39, mitochondrial	Mus musculus (Mouse)	PR
Q9D0R2	Tars1	Threonine--tRNA ligase 1, cytoplasmic	Mus musculus (Mouse)	PR
Q68FW7	Tars2	Threonine--tRNA ligase, mitochondrial	Rattus norvegicus (Rat)	PR
Q8GZ45	At1g17960	Probable threonine--tRNA ligase, cytoplasmic	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MFEEKASSPS	GKMGGEEKPI	GAGEEKQKEG	GKKKNKEGSG	DGGRAELNPW	PEYIYTRLEM
70	80	90	100	110	120
YNILKAEHDS	ILAEKAEKDS	KPIKVTLPDG	KQVDAESWKT	TPYQIACGIS	QGLADNTVIA
130	140	150	160	170	180
KVNNVVWDLD	RPLEEDCTLE	LLKFEDEEAQ	AVYWHSSAHI	MGEAMERVYG	GCLCYGPPIE
190	200	210	220	230	240
NGFYYDMYLE	EGGVSSNDFS	SLEALCKKII	KEKQAFERLE	VKKETLLAMF	KYNKFKCRIL
250	260	270	280	290	300
NEKVNTPTTT	VYRCGPLIDL	CRGPHVRHTG	KIKALKIHKN	SSTYWEGKAD	METLQRIYGI
310	320	330	340	350	360
SFPDPKMLKE	WEKFQEEAKN	RDHRKIGRDQ	ELYFFHELSP	GSCFFLPKGA	YIYNALIEFI
370	380	390	400	410	420
RSEYRKRGFQ	EVVTPNIFNS	RLWMTSGHWQ	HYSENMFSFE	VEKELFALKP	MNCPGHCLMF
430	440	450	460	470	480
DHRPRSWREL	PLRLADFGVL	HRNELSGALT	GLTRVRRFQQ	DDAHIFCAME	QIEDEIKGCL
490	500	510	520	530	540
DFLRTVYSVF	GFSFKLNLST	RPEKFLGDIE	VWDQAEKQLE	NSLNEFGEKW	ELNSGDGAFY
550	560	570	580	590	600
GPKIDIQIKD	AIGRYHQCAT	IQLDFQLPIR	FNLTYVSHDG	DDKKRPVIVH	RAILGSVERM
610	620	630	640	650	660
IAILTENYGG	KWPFWLSPRQ	VMVVPVGPTC	DEYAQKVRQQ	FHDAKFMADI	DLDPGCTLNK
670	680	690	700	710	720
KIRNAQLAQY	NFILVVGEKE	KISGTVNIRT	RDNKVHGERT	ISETIERLQQ	LKEFRSKQAE

EEF