AiPD: Autoinhibited Protein Database

Q7Z6J9

Gene name	TSEN54 (SEN54)
Protein name	tRNA-splicing endonuclease subunit Sen54
Names	SEN54 homolog, HsSEN54, tRNA-intron endonuclease Sen54
Species	Homo sapiens (Human)
KEGG Pathway	hsa:283989
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

159-392 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

159-392 (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 Q7Z6J9

Entry ID	Method	Resolution	Chain	Position	Source
7UXA	EM	328 A	D	1-526	PDB
7ZRZ	EM	309 A			PDB
8HMY	EM	294 A	C	1-526	PDB
8HMZ	EM	290 A	C	1-526	PDB
8ISS	EM	319 A	D	1-526	PDB
AF-Q7Z6J9-F1	Predicted				AlphaFoldDB

602 variants for Q7Z6J9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001839895 RCV001839894 RCV000347176 CA149660 VAR_019459 RCV000082837 rs7216673 RCV000710272 RCV001839893	4	E>D	Pontocerebellar hypoplasia type 2A Pontocerebellar hypoplasia type 4 Pontoneocerebellar hypoplasia Pontocerebellar hypoplasia type 5 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV002524438 CA10650101 rs886053394 RCV000397250	5	P>S	Pontoneocerebellar hypoplasia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA401026814 RCV002558238 RCV001125599 rs1377971286	6	E>Q	Pontoneocerebellar hypoplasia [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000194787 RCV000725869 CA209198 RCV002517984 rs201089582 RCV000307439 RCV000765395	28	S>L	Pontocerebellar hypoplasia type 4 Pontoneocerebellar hypoplasia Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000352813 CA149656 RCV000990059 rs8079373 VAR_019461 RCV000082835 RCV000713894	38	H>Q	Pontocerebellar hypoplasia type 4 Pontoneocerebellar hypoplasia [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001336191 rs1281448557	56	R>H	Pontocerebellar hypoplasia type 2A [ClinVar]	Yes	ClinVar dbSNP
RCV000268430 RCV001127697 rs886043563 CA10605663	59	R>Q	Pontoneocerebellar hypoplasia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000031854 RCV002255122 rs113994151 VAR_054812 RCV000002203 RCV000585824 CA342909	93	S>P	Pontocerebellar hypoplasia type 2A Pontocerebellar hypoplasia type 4 PCH4 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
rs148146916 RCV000178418 CA202863 RCV000300118 RCV000865111	109	R>G	Pontoneocerebellar hypoplasia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001030792 rs1180314456 CA401027529	114	P>L	Pontoneocerebellar hypoplasia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
VAR_073351	119	Y>D	PCH2A [UniProt]	Yes	UniProt
CA401027585 RCV002556670 rs1484028244 RCV001123604	123	C>S	Pontoneocerebellar hypoplasia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA8764088 rs774157225 RCV000585886 RCV003117356 RCV001262866 RCV002469213	124	G>V	Pontocerebellar hypoplasia type 2A Pontocerebellar hypoplasia type 4 Pontoneocerebellar hypoplasia [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001840060 RCV000147784 RCV001515446 CA173732 RCV001840061 RCV000260242 rs11559205 VAR_057721 RCV001840062	137	I>L	Pontocerebellar hypoplasia type 2A Pontocerebellar hypoplasia type 4 Pontoneocerebellar hypoplasia Pontocerebellar hypoplasia type 5 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2053387849 RCV002546401 RCV001330648	154	Q>H	Inborn genetic diseases Pontocerebellar hypoplasia type 5 [ClinVar]	Yes	ClinVar dbSNP
RCV001123606 RCV001856629 rs376310114 CA8764201	179	P>R	Pontoneocerebellar hypoplasia [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000147786 RCV000710273 CA173735 rs79508780 RCV000379012	190	V>M	Pontoneocerebellar hypoplasia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV003155107 CA247406 rs147165460 RCV000765396 RCV000180028	208	R>W	Variant assessed as Somatic; 0.0 impact. Pontocerebellar hypoplasia type 4 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs184421010 CA8764237 RCV001336192	213	K>E	Pontocerebellar hypoplasia type 2A [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs762142684 RCV002487169 RCV000255134	224	K>missing	Pontocerebellar hypoplasia type 4 [ClinVar]	Yes	ClinVar dbSNP
RCV000384926 CA8764249 rs141249409 RCV000896414	231	P>L	Pontoneocerebellar hypoplasia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA339944 rs113994153 RCV001197352 RCV000002204	246	Q>*	Pontocerebellar hypoplasia type 4 Pontocerebellar hypoplasia type 5 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA8764259 RCV001124680 RCV002556700 rs761784110	249	S>R	Pontoneocerebellar hypoplasia [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8764264 RCV000875960 rs200683263 RCV000290502	256	G>D	Pontoneocerebellar hypoplasia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA8764272 rs758853965 RCV001336193	270	P>S	Pontocerebellar hypoplasia type 2A [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1460815000 CA401029129 RCV001124681	274	G>E	Pontoneocerebellar hypoplasia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000193834 rs797046057	275	V>missing	Pontocerebellar hypoplasia type 2A [ClinVar]	Yes	ClinVar dbSNP
RCV000897446 CA8764291 rs199682817 RCV000345618	288	V>I	Pontoneocerebellar hypoplasia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001124683 CA294079122 rs564262300 CA8764299	298	F>L	Pontoneocerebellar hypoplasia [ClinVar]	Yes	ClinGen 1000Genomes ExAC TOPMed gnomAD ClinVar dbSNP
CA247853 RCV000724067 RCV002515295 rs776796485	305	N>S	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000515314 RCV000147790 RCV000415005 RCV000627018 RCV000157631 rs113994152 RCV001824557 RCV003153294 RCV001255369 RCV000414963 CA173740 RCV000585824 RCV000224437 RCV000157630 RCV000623727 VAR_054813 RCV000002201 RCV001193388 RCV000002203 RCV001813937	307	A>S	Congenital cerebellar hypoplasia Intellectual disability Global developmental delay Pontocerebellar hypoplasia type 2A Methylmalonic aciduria and homocystinuria type cblD Pontocerebellar hypoplasia type 4 Pontoneocerebellar hypoplasia Pontocerebellar hypoplasia type 5 Inborn genetic diseases PCH2A and PCH4 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1012275384 RCV000680133	314	L>missing	Pontocerebellar hypoplasia type 4 [ClinVar]	Yes	ClinVar dbSNP
CA401029614 RCV001252778 rs942598979	333	D>E	Microcephaly [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA339946 RCV000002205 rs113994154	343	Q>*	Pontocerebellar hypoplasia type 4 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001125684 rs759944703 CA8764324	344	R>C	Pontoneocerebellar hypoplasia [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000319310 RCV001330644 CA8764326 rs376308638	345	K>N	Pontocerebellar hypoplasia type 2A [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV002493386 RCV000760540 CA8764327 rs143604970	347	K>*	Pontocerebellar hypoplasia type 4 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA401029707 RCV001840053 CA173704 RCV000295979 RCV000147767 rs9911502 VAR_019462 RCV000713892 RCV001840052 RCV000990060	347	K>N	Pontocerebellar hypoplasia type 2A Pontocerebellar hypoplasia type 4 Pontoneocerebellar hypoplasia Pontocerebellar hypoplasia type 5 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1568003520 RCV000713891 RCV002499297 CA891844146	347	K>Y	Pontocerebellar hypoplasia type 4 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA10640505 RCV000350920 rs886053397	348	L>H	Pontoneocerebellar hypoplasia [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000193607 RCV001330646 CA207200 RCV001589071 rs200540627 RCV002517147	353	R>W	Inborn genetic diseases Pontocerebellar hypoplasia type 5 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA401029753 rs1221250692 RCV001125685	356	H>R	Pontoneocerebellar hypoplasia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA8764339 RCV000396508 RCV003168482 COSM984379 rs760089379	357	A>V	endometrium Inborn genetic diseases Pontoneocerebellar hypoplasia [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
CA8764344 RCV000993357 rs368377822 RCV001125686	360	A>V	Pontoneocerebellar hypoplasia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA224404 RCV000311068 RCV000082833 rs398124621	371	E>K	Pontoneocerebellar hypoplasia [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000592346 RCV000147768 RCV002514845 CA173706 rs200434678 RCV000337897	372	V>M	Pontoneocerebellar hypoplasia Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs201351319 CA247855 RCV000180399 RCV000836496 RCV001127783	374	R>G	Pontoneocerebellar hypoplasia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs796181199 RCV001127784 CA294079643 RCV002462331	388	R>P	Pontoneocerebellar hypoplasia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA208985 RCV001562832 RCV000194668 rs369805010 RCV000352925	389	Q>H	Pontoneocerebellar hypoplasia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000713895 CA149658 RCV000082836 rs77247739 RCV000298044	389	Q>P	Pontoneocerebellar hypoplasia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000023730 rs886037629	391	Q>missing	Pontocerebellar hypoplasia type 4 [ClinVar]	Yes	ClinVar dbSNP
CA401030035 rs1383991855 RCV001127785	402	G>V	Pontoneocerebellar hypoplasia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs886053398 RCV000267971 CA401030048 CA10640508	403	Q>H	Pontoneocerebellar hypoplasia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs2053437943 RCV001196549	406	T>missing	Pontocerebellar hypoplasia type 5 [ClinVar]	Yes	ClinVar dbSNP
RCV001330647 rs2053450384	427	L>P	Pontocerebellar hypoplasia type 2A [ClinVar]	Yes	ClinVar dbSNP
RCV000147771 RCV000713897 RCV000304359 rs8064529 RCV001840055 RCV001840056 CA173712 RCV001840054 VAR_019463	437	A>V	Pontocerebellar hypoplasia type 2A Pontocerebellar hypoplasia type 4 Pontocerebellar hypoplasia type 5 Pontoneocerebellar hypoplasia [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA173714 rs150169668 RCV000147772 RCV001122012 RCV000224442	443	S>C	Pontoneocerebellar hypoplasia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000147773 RCV001193387 rs587784476	446	L>missing	Pontoneocerebellar hypoplasia [ClinVar]	Yes	ClinVar dbSNP
RCV001336190 RCV001124770 rs767683456 CA8764422	461	F>L	Pontoneocerebellar hypoplasia Pontocerebellar hypoplasia type 5 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs778218563 RCV000328712 CA8764425 COSM3378317	462	R>Q	pancreas Pontoneocerebellar hypoplasia [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
RCV000193727 rs797046054	463	K>*	Pontocerebellar hypoplasia type 2A [ClinVar]	Yes	ClinVar dbSNP
rs797046055 RCV000194772	467	G>missing	Pontocerebellar hypoplasia type 2A [ClinVar]	Yes	ClinVar dbSNP
RCV000383316 CA8764432 RCV000433179 rs151332020	472	R>Q	Pontoneocerebellar hypoplasia [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs2053460545 RCV001124771	473	M>K	Pontoneocerebellar hypoplasia [ClinVar]	Yes	ClinVar dbSNP
RCV001839923 RCV000147774 CA173717 RCV000325339 RCV001839922 RCV001518249 RCV001839921 rs62088470	483	P>A	Pontocerebellar hypoplasia type 2A Pontocerebellar hypoplasia type 4 Pontoneocerebellar hypoplasia Pontocerebellar hypoplasia type 5 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000147775 CA173719 rs144662042 RCV000713898 RCV000294015	490	R>W	Pontoneocerebellar hypoplasia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000348817 CA10640509 rs886053400	496	G>R	Pontoneocerebellar hypoplasia [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000790621 rs1598480419 CA401031399	512	F>S	Pontocerebellar hypoplasia type 2A [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA173723 rs11870627 CA401031523 VAR_057722 RCV000281143 RCV000713899 RCV000147777	525	G>R	Pontoneocerebellar hypoplasia [ClinVar]	Yes	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar UniProt dbSNP
RCV000147778 rs587784478	1	M>L		No	ClinVar dbSNP
RCV000173597 CA401026794 rs794726965 CA239061	2	E>D		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1555643564 RCV000378466	3	P>DP		No	ClinVar dbSNP
CA401026797 rs1425806314	3	P>S		No	ClinGen TOPMed
rs1161690336 CA401026804	4	E>A		No	ClinGen TOPMed
CA401026801 rs1448309617	4	E>K		No	ClinGen gnomAD
rs886053394 CA401026809	5	P>A		No	ClinGen TOPMed gnomAD
rs1179147324 CA401026812	5	P>L		No	ClinGen TOPMed
CA401026820 rs1226320805	6	E>D		No	ClinGen TOPMed gnomAD
rs1377971286 CA401026813	6	E>K		No	ClinGen gnomAD
rs1429843955 CA401026821	7	P>S		No	ClinGen gnomAD
rs1335168712 CA401026830	8	A>E		No	ClinGen gnomAD
rs1314431867 CA401026827	8	A>T		No	ClinGen gnomAD
rs1256038429 CA401026838	9	A>D		No	ClinGen gnomAD
CA401026835 rs1217808253	9	A>S		No	ClinGen TOPMed gnomAD
CA401026833 rs1217808253	9	A>T		No	ClinGen TOPMed gnomAD
rs1459070573 CA401026839	10	V>M		No	ClinGen gnomAD
rs1205287158 CA401026855	12	V>F		No	ClinGen gnomAD
rs1490475713 CA401026860	13	P>S		No	ClinGen TOPMed
CA401026890 rs1367317230	18	L>V		No	ClinGen gnomAD
rs779657660 CA401026913	19	S>R		No	ClinGen ExAC TOPMed gnomAD
CA401026916 rs1258449330	20	A>S		No	ClinGen gnomAD
CA8763962 rs746901639	21	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8763964 rs781098742	21	R>L		No	ClinGen ExAC TOPMed gnomAD
CA401026920 rs781098742	21	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs746901639 CA8763963	21	R>W		No	ClinGen ExAC TOPMed gnomAD
CA401026922 rs1568000547	22	E>K		No	ClinGen Ensembl
CA401026952 rs1172442313	26	A>S		No	ClinGen gnomAD
rs1172442313 CA401026950	26	A>T		No	ClinGen gnomAD
rs978308450 CA294075520	27	R>H		No	ClinGen TOPMed gnomAD
CA401026959 rs978308450	27	R>P		No	ClinGen TOPMed gnomAD
rs756635517 CA8763965	28	S>P		No	ClinGen ExAC gnomAD
rs774699901 CA8763966	32	K>T		No	ClinGen ExAC gnomAD
CA8763967 rs746166826	34	P>L		No	ClinGen ExAC TOPMed gnomAD
CA401027000 rs746166826	34	P>R		No	ClinGen ExAC TOPMed gnomAD
rs11559206 CA294075559	35	Q>E		No	ClinGen Ensembl
TCGA novel	35	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401027008 rs772013549	36	R>G		No	ClinGen ExAC TOPMed gnomAD
rs772013549 CA8763968	36	R>S		No	ClinGen ExAC TOPMed gnomAD
CA294075590 rs866590713	37	S>L		No	ClinGen TOPMed gnomAD
CA294075587 rs866590713	37	S>W		No	ClinGen TOPMed gnomAD
rs1341588611 CA401027026	39	G>C		No	ClinGen TOPMed
rs1041129965 CA294075597	40	P>S		No	ClinGen TOPMed gnomAD
CA401027031 rs1041129965	40	P>T		No	ClinGen TOPMed gnomAD
CA401027039 rs1156704069	41	K>R		No	ClinGen TOPMed gnomAD
CA8763971 rs776923151	42	D>E		No	ClinGen ExAC gnomAD
rs1312275504 CA401027062	44	L>P		No	ClinGen TOPMed
rs765659394 CA8763973	45	P>H		No	ClinGen ExAC TOPMed gnomAD
CA401027072 rs1447888692	46	D>G		No	ClinGen gnomAD
CA401027070 rs1598473423	46	D>N		No	ClinGen Ensembl
rs758123013 CA401027077	47	G>C		No	ClinGen ExAC TOPMed gnomAD
CA8763975 rs758123013	47	G>S		No	ClinGen ExAC TOPMed gnomAD
CA401027086 rs1479320072	48	S>L		No	ClinGen TOPMed gnomAD
CA401027083 rs1427667128	48	S>P		No	ClinGen TOPMed
rs1479320072 CA401027085	48	S>W		No	ClinGen TOPMed gnomAD
CA8763977 rs751116346	49	A>T		No	ClinGen ExAC TOPMed gnomAD
rs781285249 CA8763979	50	A>P		No	ClinGen ExAC gnomAD
CA8763980 rs748151171	51	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs755967065 CA8763981	51	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1322703915 CA401027107	52	A>G		No	ClinGen gnomAD
rs1420071026 CA401027105	52	A>P		No	ClinGen TOPMed
rs1322703915 CA401027108	52	A>V		No	ClinGen gnomAD
rs1180659663 CA401027112	53	E>G		No	ClinGen TOPMed
rs777749516 CA8763982	53	E>K		No	ClinGen ExAC TOPMed gnomAD
CA401027128 rs1238085268	56	R>C		No	ClinGen gnomAD
rs1281448557 CA401027130	56	R>P		No	ClinGen gnomAD
TCGA novel	56	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8763983 rs746053532	57	R>Q		No	ClinGen ExAC gnomAD
rs935330326 CA294075663	57	R>W		No	ClinGen TOPMed
rs1453830411 CA401027139	58	C>F		No	ClinGen TOPMed gnomAD
CA401027138 rs1453830411	58	C>S		No	ClinGen TOPMed gnomAD
rs775392742 CA8763985	58	C>S		No	ClinGen ExAC gnomAD
rs1214796361 CA401027143	59	R>G		No	ClinGen gnomAD
rs1265134294 CA401027159	61	E>G		No	ClinGen TOPMed
rs1438493791 RCV000514440 CA401027154	61	E>K		No	ClinGen ClinVar dbSNP gnomAD
rs1239973179 CA401027162	62	L>I		No	ClinGen TOPMed
TCGA novel	63	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8763986 rs542010233	63	W>R		No	ClinGen 1000Genomes ExAC gnomAD
CA401027183 rs1470340187	64	Q>H		No	ClinGen gnomAD
rs1388222262 CA401027192	66	L>P		No	ClinGen gnomAD
rs1462830454 CA401027195	67	A>P		No	ClinGen gnomAD
CA401027199 rs1326441166	67	A>V		No	ClinGen TOPMed gnomAD
CA8763988 rs777119306	68	E>K		No	ClinGen ExAC gnomAD
rs1005919068 CA401027216	70	R>C		No	ClinGen gnomAD
rs1005919068 CA294075704	70	R>G		No	ClinGen gnomAD
rs1336565977 CA401027219	70	R>H		No	ClinGen gnomAD
rs762348914 CA8763989	71	V>M		No	ClinGen ExAC gnomAD
rs1349865953 CA401027228	72	E>A		No	ClinGen TOPMed
rs1337339821 CA401027237	73	R>P		No	ClinGen gnomAD
CA401027242 rs1257937364	74	L>P		No	ClinGen gnomAD
CA401027258 rs1384294090	75	G>D		No	ClinGen gnomAD
rs942876493 CA294075792	75	G>S		No	ClinGen gnomAD
CA294075805 rs922670635	76	S>C		No	ClinGen Ensembl
rs1568000815 CA401027267	76	S>R		No	ClinGen Ensembl
rs771255158 CA8764012	78	V>G		No	ClinGen ExAC
rs1457091205 CA401027280	79	A>T		No	ClinGen TOPMed
rs1231860113 CA401027283	79	A>V		No	ClinGen gnomAD
CA401027288 rs1277645338	80	A>S		No	ClinGen TOPMed gnomAD
rs1277645338 CA401027286	80	A>T		No	ClinGen TOPMed gnomAD
rs767112607 CA8764015	81	E>D		No	ClinGen ExAC gnomAD
CA8764014 rs759299221	81	E>K		No	ClinGen ExAC gnomAD
CA401027304 rs1277949472	82	W>*		No	ClinGen gnomAD
CA401027298 rs1598473748	82	W>G		No	ClinGen Ensembl
CA401027316 rs1598473760	84	P>A		No	ClinGen Ensembl
rs760648694 CA8764017	85	E>K		No	ClinGen ExAC gnomAD
rs1179247981 VAR_073350 CA401027324	85	E>V	found in familial late-onset hereditary ataxia; unknown pathological significance [UniProt]	No	ClinGen UniProt TOPMed dbSNP
rs1262309875 CA401027330	86	E>A		No	ClinGen gnomAD
CA401027335 rs1432573911	87	G>S		No	ClinGen gnomAD
CA401027340 rs1376040164	87	G>V		No	ClinGen gnomAD
rs540376486 CA294075851	89	V>M		No	ClinGen 1000Genomes
rs764096548 CA8764018	90	E>D		No	ClinGen ExAC TOPMed gnomAD
CA401027354 rs1454771890	90	E>K		No	ClinGen gnomAD
rs1358899558 CA401027362	91	L>V		No	ClinGen gnomAD
rs1455642594 CA401027374	92	K>N		No	ClinGen gnomAD
CA401027378 rs1289867668	93	S>F		No	ClinGen gnomAD
rs560340163 CA8764019	94	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401027391 rs1385660656	95	A>V		No	ClinGen TOPMed gnomAD
rs746239982 CA8764059	96	G>D		No	ClinGen ExAC gnomAD
rs750645536 RCV000596196	97	K>I		No	ClinVar dbSNP
rs1330181413 CA401027414	97	K>T		No	ClinGen TOPMed
rs771792181 CA8764061	99	W>C		No	ClinGen ExAC gnomAD
CA8764062 rs373908614	101	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs373908614 CA294076036	101	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA401027454 rs1443765005	103	G>S		No	ClinGen gnomAD
CA401027485 rs1298351014	107	Q>P		No	ClinGen gnomAD
rs746697978 CA8764063	108	G>V		No	ClinGen ExAC gnomAD
rs776024779 CA8764064	109	R>Q		No	ClinGen ExAC gnomAD
CA401027495 rs148146916	109	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	112	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8764065 rs536068745	113	H>R		No	ClinGen 1000Genomes ExAC gnomAD
CA294076057 rs998639688	114	P>A		No	ClinGen gnomAD
rs998639688 CA401027526	114	P>S		No	ClinGen gnomAD
rs772929120 CA401027549	117	A>D		No	ClinGen ExAC TOPMed gnomAD
CA294076068 rs772929120	117	A>G		No	ClinGen ExAC TOPMed gnomAD
rs772929120 CA8764066	117	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1598474054 CA401027561	119	Y>C		No	ClinGen Ensembl
rs1318909841 CA401027567	120	L>F		No	ClinGen Ensembl
rs11541922 CA294076081	120	L>H		No	ClinGen Ensembl
rs1190501600 CA401027581	122	E>D		No	ClinGen gnomAD
rs766232818 CA8764068	123	C>S		No	ClinGen ExAC gnomAD
rs770694652 CA8764087	124	G>S		No	ClinGen ExAC gnomAD
CA8764089 rs760912997	125	S>A		No	ClinGen ExAC TOPMed gnomAD
CA401027608 rs1195000435	125	S>F		No	ClinGen gnomAD
CA401027605 rs760912997	125	S>T		No	ClinGen ExAC TOPMed gnomAD
CA401027610 rs1396441648	126	I>V		No	ClinGen TOPMed
CA8764091 rs753897474	127	H>P		No	ClinGen ExAC gnomAD
rs1381014057 CA401027617	127	H>Y		No	ClinGen TOPMed
CA401027625 rs1409810864	128	L>F		No	ClinGen TOPMed gnomAD
CA8764093 rs765447392	129	F>S		No	ClinGen ExAC
rs1370650638 CA401027639	130	H>P		No	ClinGen TOPMed
rs1030048628 CA294076294	131	Q>K		No	ClinGen TOPMed
rs758995350 CA8764095	132	D>A		No	ClinGen ExAC gnomAD
rs750942705 CA8764094	132	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	132	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401027657 rs780524357	133	L>V		No	ClinGen ExAC TOPMed gnomAD
CA401027663 rs1443163866	134	P>S		No	ClinGen gnomAD
rs751872203 CA401027669	135	L>V		No	ClinGen ExAC TOPMed gnomAD
CA401027687 rs1237068021	138	Q>*		No	ClinGen gnomAD
rs908743424 CA294076307	139	E>K		No	ClinGen TOPMed
rs1281503422 CA401027700	140	A>T		No	ClinGen gnomAD
rs532966530 CA8764099	142	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
rs1598474448 CA401027719	142	Q>H		No	ClinGen Ensembl
CA401027733 rs1337649878	145	L>Q		No	ClinGen gnomAD
CA8764102 rs201623351	146	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8764103 RCV000728591 rs201623351	146	T>N		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1179159490 CA401027741	147	D>N		No	ClinGen gnomAD
rs1179159490 CA401027740	147	D>Y		No	ClinGen gnomAD
rs1254584643 CA401027748	148	H>N		No	ClinGen TOPMed
rs1234281164 CA401027757	149	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8764108 rs762143678	151	T>I		No	ClinGen ExAC gnomAD
CA8764111 rs376993581	152	F>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1165565709 CA401027778	152	F>L		No	ClinGen gnomAD
rs1017310967 CA401027781	153	L>V		No	ClinGen TOPMed gnomAD
rs1469606140 CA401027788	154	Q>P		No	ClinGen gnomAD
rs1389767082 CA401027793	155	Y>N		No	ClinGen gnomAD
TCGA novel	157	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768627491 CA8764150	157	V>F		No	ClinGen ExAC gnomAD
CA294077179 rs1008856608	158	F>L		No	ClinGen TOPMed
CA401027837 rs1435699080	159	S>I		No	ClinGen gnomAD
rs573848579 CA8764152	160	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401027865 rs1214084778	163	R>S		No	ClinGen TOPMed gnomAD
rs770897552 CA8764153	163	R>T		No	ClinGen ExAC gnomAD
rs1232968626 CA401027894	168	V>L		No	ClinGen gnomAD
CA8764155 rs199962683	169	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs768076552 CA8764156	169	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1233688232 CA401027903	170	R>*		No	ClinGen gnomAD
rs775660773 CA8764157	170	R>Q		No	ClinGen ExAC gnomAD
rs1206765982 CA401027913	171	F>L		No	ClinGen gnomAD
TCGA novel	173	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000413093 CA16043008 rs1057517911	174	S>N		No	ClinGen ClinVar Ensembl dbSNP
rs1598476984 CA401028155	175	S>A		No	ClinGen Ensembl
TCGA novel	175	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8764200 RCV000500592 RCV002524318 rs376310114	179	P>L		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA401028179 rs376310114	179	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA401028188 rs1309340118	181	E>K		No	ClinGen gnomAD
CA401028196 rs1206068255	182	R>G		No	ClinGen gnomAD
RCV000521902 rs1555644470 CA401028205	183	Q>*		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	187	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401028247 rs1422391189	189	S>N		No	ClinGen TOPMed
rs79508780 RCV000996606 CA8764204 CA294078533	190	V>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs138028816 CA294078535	191	Q>L		No	ClinGen ESP TOPMed
rs587784479 RCV000147787	192	H>missing		No	ClinVar dbSNP
CA8764205 rs763837662	192	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1032109515 CA294078555	195	D>G		No	ClinGen Ensembl
rs377382148 CA8764207	196	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA401028320 rs1394140232	200	R>K		No	ClinGen gnomAD
CA401028360 rs1429860173	205	S>F		No	ClinGen gnomAD
rs377138108 CA294078567	205	S>T		No	ClinGen Ensembl
rs780041090 CA8764209	206	S>I		No	ClinGen ExAC TOPMed gnomAD
CA401028369 rs1380375345	207	P>A		No	ClinGen TOPMed
CA401028371 rs1367385736	207	P>L		No	ClinGen gnomAD
COSM195375 rs985291542 CA294078569	208	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1356775062 CA401028443	211	N>K		No	ClinGen gnomAD
rs794727939 RCV000180396	213	K>missing		No	ClinVar dbSNP
rs765053828 CA8764241	215	K>E		No	ClinGen ExAC TOPMed gnomAD
CA401028494 rs1440486116	215	K>M		No	ClinGen gnomAD
rs544925716 CA8764243	218	D>E		No	ClinGen ExAC gnomAD
rs537001715 CA8764242	218	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1233272443 CA401028533	219	N>D		No	ClinGen gnomAD
rs866996557 CA294078851	222	Q>K		No	ClinGen Ensembl
CA8764244 rs767591488	223	P>L		No	ClinGen ExAC TOPMed gnomAD
rs752726764 CA8764246	224	K>E		No	ClinGen ExAC gnomAD
rs1290172987 CA401028597	224	K>N		No	ClinGen gnomAD
rs756588384 CA8764247	224	K>R		No	ClinGen ExAC gnomAD
CA8764248 rs778133967	225	S>C		No	ClinGen ExAC gnomAD
CA401028643 rs1253787546	228	A>V		No	ClinGen gnomAD
CA401028655 rs1187189879	230	S>G		No	ClinGen gnomAD
CA294078863 rs972897786	231	P>S		No	ClinGen Ensembl
rs1568003193 CA401028684	232	P>R		No	ClinGen Ensembl
CA401028703 rs1396049301	234	C>Y		No	ClinGen gnomAD
CA8764251 rs779468967	236	Q>H		No	ClinGen ExAC gnomAD
CA294078878 rs200904080	236	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs745470927 CA8764252	237	P>S		No	ClinGen ExAC TOPMed gnomAD
CA8764253 rs771883893	238	S>G		No	ClinGen ExAC gnomAD
CA401028752 rs1480129714	238	S>I		No	ClinGen TOPMed
CA8764254 rs779557263	240	C>R		No	ClinGen ExAC gnomAD
CA401028779 rs372368367	240	C>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1284202887 CA401028783	241	P>Q		No	ClinGen gnomAD
CA401028808 rs1598477270	244	K>N		No	ClinGen Ensembl
rs1276301439 CA401028820	245	P>L		No	ClinGen gnomAD
CA401028816 rs1276301439	245	P>R		No	ClinGen gnomAD
rs1188160997 CA401028866	249	S>T		No	ClinGen gnomAD
CA294078912 rs866930562	250	P>L		No	ClinGen Ensembl
rs375386151 CA8764260	251	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA294078918 rs984323039	251	M>R		No	ClinGen TOPMed gnomAD
rs369801130 CA8764262	253	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA8764261 rs369801130	253	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA401028908 rs1170759832	253	G>S		No	ClinGen gnomAD
CA294078958 rs866872319 CA294078954	255	G>R		No	ClinGen TOPMed
rs200015685 CA8764263	256	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401028941 rs200683263	256	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401028948 rs1359412036	257	P>S		No	ClinGen TOPMed
CA294078976 rs924080420	259	Q>R		No	ClinGen Ensembl
rs760669760 CA8764265	260	L>F		No	ClinGen ExAC gnomAD
CA8764267 rs553320127	264	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401029036 rs1342366984	265	G>D		No	ClinGen gnomAD
rs754375574 CA8764268	265	G>S		No	ClinGen ExAC gnomAD
CA401029042 rs1254096293	266	P>S		No	ClinGen gnomAD
rs1053755132 CA401029064	267	S>R		No	ClinGen gnomAD
CA294079001 rs757862450	268	P>A		No	ClinGen ExAC TOPMed gnomAD
rs757862450 CA8764269	268	P>S		No	ClinGen ExAC TOPMed gnomAD
CA8764273 rs779566009	270	P>L		No	ClinGen ExAC TOPMed gnomAD
rs780699481 CA8764276	272	R>M		No	ClinGen ExAC gnomAD
rs748035605 CA8764279 CA8764277	273	E>D		No	ClinGen ExAC TOPMed gnomAD
CA401029116 rs1419002790	273	E>K		No	ClinGen TOPMed
CA8764280 rs762725861 CA401029128	274	G>R		No	ClinGen ExAC TOPMed gnomAD
CA8764281 rs762725861	274	G>W		No	ClinGen ExAC TOPMed gnomAD
RCV000598441 rs1040846492 CA294079065	275	V>L		No	ClinGen ClinVar Ensembl dbSNP
CA294079067 CA401029144 rs901020121	276	G>R		No	ClinGen gnomAD
CA8764282 rs777546135	276	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1199919169 CA401029151	277	C>R		No	ClinGen TOPMed
rs1432282424 CA401029168	278	S>N		No	ClinGen gnomAD
CA8764284 rs761007812	278	S>R		No	ClinGen ExAC gnomAD
CA8764285 rs764031940	279	W>G		No	ClinGen ExAC gnomAD
CA401029206 rs1229275680	281	S>G		No	ClinGen TOPMed
rs1452630857 CA401029231	283	R>G		No	ClinGen TOPMed
CA401029243 rs1439782684	284	A>T		No	ClinGen gnomAD
CA401029250 rs1298711128	284	A>V		No	ClinGen TOPMed gnomAD
rs762345580 CA8764288	285	E>K		No	ClinGen ExAC gnomAD
CA401029284 CA8764290 rs751035670	287	G>R		No	ClinGen ExAC TOPMed gnomAD
CA8764292 rs575243335	289	T>M		No	ClinGen 1000Genomes ExAC
CA401029316 rs1568003356	290	G>V		No	ClinGen Ensembl
rs1386935097	291	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1189741192 CA401029331	292	G>S		No	ClinGen gnomAD
rs150805182 CA8764296	294	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780611779 CA8764295	294	R>W		No	ClinGen ExAC gnomAD
TCGA novel	295	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401029369 rs755682980	295	R>H		No	ClinGen ExAC TOPMed gnomAD
CA8764297 rs755682980	295	R>L		No	ClinGen ExAC TOPMed gnomAD
rs777686643 CA8764298	296	W>C		No	ClinGen ExAC gnomAD
CA401029402 rs1388797243	300	Q>*		No	ClinGen gnomAD
rs1232014006 CA401029407	300	Q>H		No	ClinGen TOPMed gnomAD
CA401029409 rs1245620942	301	I>L		No	ClinGen TOPMed
rs1005398535 CA294079129	302	S>C		No	ClinGen TOPMed
rs199874361 CA8764303	303	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA294079133 rs979522375	303	F>S		No	ClinGen Ensembl
CA8764304 rs768929014	304	P>L		No	ClinGen ExAC TOPMed gnomAD
CA401029434 rs1372755410	305	N>H		No	ClinGen TOPMed
CA401029452 rs1350195436	307	A>V		No	ClinGen gnomAD
CA8764305 rs765445501	308	S>P		No	ClinGen ExAC gnomAD
rs963456802 CA294079149	311	R>C		No	ClinGen TOPMed gnomAD
CA401029480 rs963456802	311	R>G		No	ClinGen TOPMed gnomAD
rs773833320 RCV000274961 CA8764306	311	R>H		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1380869962 CA401029498	312	H>Q		No	ClinGen TOPMed
CA8764307 rs528288233	312	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1568003413 CA401029503	313	T>S		No	ClinGen Ensembl
rs1034022967 CA294079166	314	L>P		No	ClinGen Ensembl
CA401029512 rs1353831423	314	L>V		No	ClinGen Ensembl
CA8764308 rs766608074	315	L>R		No	ClinGen ExAC gnomAD
CA401029517 rs1417206711	315	L>V		No	ClinGen TOPMed
rs377207901 CA8764309	316	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA401029521 rs377207901	316	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs369195850 CA8764310	316	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1222255974 CA401029525	317	A>G		No	ClinGen TOPMed
RCV000267986 COSM3672575 rs201125812 CA8764312	317	A>S	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA235020 RCV000154024 rs201125812	317	A>T		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA294079200 rs918060949	318	P>T		No	ClinGen gnomAD
rs777317304 CA401029536	319	A>D		No	ClinGen ExAC TOPMed gnomAD
rs777317304 CA8764313	319	A>V		No	ClinGen ExAC TOPMed gnomAD
RCV000713902 rs189860274 CA173741 RCV000147791	320	P>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA401029541 rs189860274	320	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs189860274 CA401029542	320	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	321	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs587784480 CA173743 RCV000147792 RCV002514846	322	L>V		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1308587030 CA401029559	323	L>P		No	ClinGen gnomAD
rs778507928 CA8764314	324	P>L		No	ClinGen ExAC TOPMed gnomAD
CA294079236 rs868291303	325	A>T		No	ClinGen Ensembl
CA8764315 rs745690536	326	N>S		No	ClinGen ExAC gnomAD
rs745690536 CA294079238	326	N>T		No	ClinGen ExAC gnomAD
rs772057758 CA8764316	327	V>M		No	ClinGen ExAC gnomAD
CA401029582 rs1257449362	328	A>T		No	ClinGen gnomAD
TCGA novel	328	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8764318 rs769945102	330	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs748429211 CA8764317	330	R>W		No	ClinGen ExAC TOPMed gnomAD
RCV001008435 rs1598477502	331	E>missing		No	ClinVar dbSNP
CA8764320 rs763299472	331	E>G		No	ClinGen ExAC gnomAD
rs773368581 CA8764319 RCV001288538	331	E>K		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8764321 rs771480598	332	T>I		No	ClinGen ExAC gnomAD
rs1431417055 CA401029608	333	D>N		No	ClinGen gnomAD
CA401029617 rs886042169	334	A>S		No	ClinGen gnomAD
RCV000377953 CA10603889 rs886042169	334	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
rs867365878 CA294079295	336	S>Y		No	ClinGen Ensembl
CA401029648 rs1264369098	338	C>Y		No	ClinGen TOPMed
rs867700810 CA294079311	341	L>M		No	ClinGen gnomAD
CA401029670 rs1380032533	341	L>P		No	ClinGen gnomAD
rs867700810 CA401029667	341	L>V		No	ClinGen gnomAD
rs994403512 CA294079314	343	Q>P		No	ClinGen TOPMed
rs994403512 CA401029682	343	Q>R		No	ClinGen TOPMed
CA8764325 rs767911960	344	R>H		No	ClinGen ExAC gnomAD
rs767911960 CA401029687	344	R>P		No	ClinGen ExAC gnomAD
rs759944703 CA401029685	344	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1310791679 CA401029698	346	E>*		No	ClinGen gnomAD
rs143604970 CA401029704	347	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA294079328 rs17854518	347	K>R		No	ClinGen Ensembl
CA294079326 rs17854518	347	K>T		No	ClinGen Ensembl
rs753393463 CA8764328	348	L>F		No	ClinGen ExAC gnomAD
CA8764329 rs757086897	349	S>F		No	ClinGen ExAC gnomAD
CA401029725 rs750365732	351	R>P		No	ClinGen ExAC TOPMed gnomAD
CA8764331 rs750365732	351	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs778898794 CA8764330	351	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1178178832 CA401029728	352	E>Q		No	ClinGen gnomAD
CA401029735 rs200540627	353	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748340945 CA294079396	353	R>L		No	ClinGen ExAC TOPMed
CA8764333 rs748340945	353	R>Q		No	ClinGen ExAC TOPMed
rs770140483 CA8764335	354	E>G		No	ClinGen ExAC TOPMed gnomAD
CA235022 RCV000154025 rs727504183	355	H>Y		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA401029752 rs1221250692	356	H>L		No	ClinGen TOPMed gnomAD
rs539193286 CA8764336	356	H>N		No	ClinGen 1000Genomes ExAC gnomAD
CA401029755 CA8764338 rs774893413	356	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs539193286 CA8764337	356	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs767505004 RCV000627567	360	A>missing		No	ClinVar dbSNP
rs368377822 CA401029778	360	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374200799 CA401029775	360	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000514206 rs374200799 CA8764343	360	A>T		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA401029783 rs1192652297	361	Q>R		No	ClinGen gnomAD
CA8764345 rs371709232	363	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA401029810 rs1255219721	365	D>N		No	ClinGen gnomAD
CA401029821 rs1390982969	366	V>G		No	ClinGen gnomAD
rs1156839197 CA401029818	366	V>I		No	ClinGen gnomAD
CA8764346 rs764700551	367	N>H		No	ClinGen ExAC gnomAD
CA8764347 rs750326133	367	N>S		No	ClinGen ExAC gnomAD
CA401029831 rs779924827	368	A>S		No	ClinGen ExAC TOPMed gnomAD
CA8764349 rs779924827	368	A>T		No	ClinGen ExAC TOPMed gnomAD
rs754874450 CA8764351	369	D>G		No	ClinGen ExAC gnomAD
rs1350242735 CA401029835	369	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA401029847 rs1454577226	370	P>H		No	ClinGen TOPMed
CA401029844 rs1315433150	370	P>S		No	ClinGen TOPMed
CA8764353 rs398124621	371	E>*		No	ClinGen ExAC TOPMed gnomAD
rs1208757529 CA401029851	371	E>V		No	ClinGen gnomAD
RCV000578515 CA8764354 rs778884343	373	Q>*		No	ClinGen ClinVar ExAC dbSNP
rs1223306791 CA401029861	373	Q>R		No	ClinGen gnomAD
RCV003139892 CA658798972 rs1555644694 RCV000598084	374	R>G		No	ClinGen ClinVar Ensembl dbSNP
CA294079554 rs17854519	374	R>P		No	ClinGen ExAC gnomAD
CA8764356 rs17854519	374	R>Q		No	ClinGen ExAC gnomAD
CA294079546 rs201351319	374	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1472970587 CA401029872	375	C>S		No	ClinGen TOPMed gnomAD
CA401029870 rs1472970587	375	C>Y		No	ClinGen TOPMed gnomAD
rs1439582331 CA401029877	376	S>A		No	ClinGen TOPMed
rs1162672986 CA401029878	376	S>Y		No	ClinGen gnomAD
CA401029882 rs1411716701	377	S>G		No	ClinGen gnomAD
rs1407355140 CA401029885	377	S>I		No	ClinGen TOPMed gnomAD
rs990131370 CA401029887	377	S>R		No	ClinGen TOPMed gnomAD
rs1407355140 CA401029884	377	S>T		No	ClinGen TOPMed gnomAD
CA8764358 rs776322565	378	W>*		No	ClinGen ExAC gnomAD
CA401029898 rs201948434	379	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8764360 rs201948434	379	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs761392770 CA8764359	379	R>W		No	ClinGen ExAC TOPMed gnomAD
CA173708 rs587784475 RCV000147769	380	E>*		No	ClinGen ClinVar TOPMed dbSNP
CA294079568 rs587784475	380	E>Q		No	ClinGen TOPMed
rs1283160524 CA401029911	381	Y>C		No	ClinGen gnomAD
rs1353629880 CA401029915	382	K>E		No	ClinGen gnomAD
rs772853205 CA8764362	382	K>R		No	ClinGen ExAC TOPMed gnomAD
CA401029932 rs1292008396	384	L>P		No	ClinGen gnomAD
CA294079586 rs975545703	385	L>P		No	ClinGen TOPMed gnomAD
rs1202697557 CA401029935	385	L>V		No	ClinGen gnomAD
CA401029940 rs1337062385 RCV000498879	386	Q>*		No	ClinGen ClinVar TOPMed dbSNP
rs1055536776 CA294079631	387	R>P		No	ClinGen TOPMed
rs1055536776 CA294079629	387	R>Q		No	ClinGen TOPMed
rs941059094 CA294079614	387	R>W		No	ClinGen TOPMed gnomAD
CA294079639 rs796181199	388	R>Q		No	ClinGen TOPMed gnomAD
rs575503646 CA401029948	388	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1389730598 CA401029953	389	Q>*		No	ClinGen gnomAD
rs886043264 CA10605307 RCV000387073 RCV002055064	389	Q>P		No	ClinGen ClinVar Ensembl dbSNP
rs1598477751 CA401029961	390	V>G		No	ClinGen Ensembl
rs1371551980 CA401029957	390	V>M		No	ClinGen TOPMed gnomAD
rs1038249770 CA294079676	391	Q>E		No	ClinGen TOPMed
rs577958629 CA8764365	391	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
rs540415680 CA294079684	392	R>K		No	ClinGen 1000Genomes TOPMed gnomAD
rs540415680 CA401029972	392	R>T		No	ClinGen 1000Genomes TOPMed gnomAD
CA401029987 rs560589823	394	Q>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA173710 RCV002288657 RCV000147770 rs560589823	394	Q>R		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA294079707 rs572964665	395	R>C		No	ClinGen 1000Genomes TOPMed gnomAD
rs572964665 RCV000713896 CA294079704	395	R>G		No	ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD
CA401029991 rs1290723242	395	R>H		No	ClinGen TOPMed
CA401029993 rs1290723242	395	R>L		No	ClinGen TOPMed
rs754047235 CA8764366	396	R>P		No	ClinGen ExAC TOPMed gnomAD
rs754047235 COSM984381 CA294079726	396	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs542013784 CA294079721	396	R>W		No	ClinGen 1000Genomes TOPMed gnomAD
CA401030000 rs1276585533	397	A>V		No	ClinGen gnomAD
rs1277283904 CA401030007	398	P>L		No	ClinGen TOPMed
CA401030010 rs1339810525	399	H>Y		No	ClinGen gnomAD
CA401030028 rs1199844853	401	W>*		No	ClinGen gnomAD
rs1444222611 CA401030050	404	P>S		No	ClinGen gnomAD
CA401030059 rs1247649426	405	V>I		No	ClinGen TOPMed gnomAD
CA401030073 rs1447960898	406	T>I		No	ClinGen TOPMed gnomAD
CA294079734 rs958213919	407	P>L		No	ClinGen TOPMed gnomAD
CA401030083 rs958213919	407	P>Q		No	ClinGen TOPMed gnomAD
CA401030132 rs1415693235	412	G>S		No	ClinGen gnomAD
CA401030137 rs1336737072	412	G>V		No	ClinGen gnomAD
rs1432516542 CA401030153	414	A>T		No	ClinGen gnomAD
rs1355077540 CA401030167	415	S>T		No	ClinGen gnomAD
rs1394317412 CA401030446	419	V>M		No	ClinGen TOPMed gnomAD
CA401030464 rs1315130083	422	Q>*		No	ClinGen gnomAD
CA401030468 rs1320008728	422	Q>R		No	ClinGen TOPMed
CA8764386 rs765433913	423	H>R		No	ClinGen ExAC TOPMed gnomAD
CA8764387 rs750712674	424	I>L		No	ClinGen ExAC gnomAD
rs758443249 CA8764388	425	S>F		No	ClinGen ExAC TOPMed gnomAD
RCV000180720 rs747473434 CA248283	426	V>M		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1002511511 CA294080313	427	L>M		No	ClinGen TOPMed
rs755443265 CA8764390	428	Q>*		No	ClinGen ExAC gnomAD
rs1482655714 CA401030511	429	T>I		No	ClinGen gnomAD
rs781561461 CA8764391	431	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1444929555 CA401030527	432	L>F		No	ClinGen TOPMed gnomAD
CA8764393 rs770256587	434	D>G		No	ClinGen ExAC TOPMed gnomAD
rs369159097 CA8764394	436	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA401030558 rs8064529	437	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748999529 CA8764395	437	A>T		No	ClinGen ExAC TOPMed gnomAD
CA401030559 rs200701234	438	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200228117 CA8764397	438	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs200701234 CA8764396	438	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs150169668 CA401030605	443	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA294080522 rs912596509	444	G>R		No	ClinGen TOPMed gnomAD
CA294080533 rs940043663	445	G>D		No	ClinGen TOPMed gnomAD
rs1265859060 CA401030611	445	G>S		No	ClinGen gnomAD
TCGA novel	447	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1448439456 CA401030634	448	I>N		No	ClinGen gnomAD
rs776411930 CA8764418	453	Y>*		No	ClinGen ExAC gnomAD
rs149201295 CA8764420	456	D>N		No	ClinGen ESP ExAC
CA8764421 rs374987874	457	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA401030741 rs1156948164	458	V>A		No	ClinGen gnomAD
CA294080556 rs753094398	461	F>L		No	ClinGen ExAC gnomAD
CA8764424 rs201775186	462	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA401030793 rs141743615 CA401030791	463	K>N		No	ClinGen 1000Genomes TOPMed gnomAD
CA401030786 rs1386151870	463	K>T		No	ClinGen TOPMed
TCGA novel	463	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs536603609 CA8764428	464	N>K		No	ClinGen 1000Genomes ExAC gnomAD
rs754269155 CA8764426	464	N>T		No	ClinGen ExAC gnomAD
TCGA novel	465	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779644096 CA401030894	472	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8764431 rs779644096	472	R>W		No	ClinGen ExAC TOPMed gnomAD
CA8764434 rs776603642	473	M>I		No	ClinGen ExAC gnomAD
CA8764433 rs141822287	473	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	474	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401030946 rs1482723951	476	S>N		No	ClinGen gnomAD
rs1179908537 CA401030958	477	G>R		No	ClinGen gnomAD
CA401031027 rs1403243270	478	F>L		No	ClinGen gnomAD
CA401031036 rs1454291734	479	D>G		No	ClinGen gnomAD
rs769529029 CA8764454	480	E>G		No	ClinGen ExAC TOPMed gnomAD
CA401031067 rs1364229464	482	V>L		No	ClinGen gnomAD
rs1477015999 CA401031081	483	P>Q		No	ClinGen TOPMed
CA401031087 rs1394346106	484	D>G		No	ClinGen TOPMed
CA401031123 rs1340068220	487	S>T		No	ClinGen gnomAD
rs1301628423 CA401031135	488	L>P		No	ClinGen Ensembl
rs775632315 CA8764457	489	K>N		No	ClinGen ExAC gnomAD
CA8764458 RCV000519493 rs141950888	490	R>Q		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs377197296 CA8764459	494	Q>*		No	ClinGen ESP ExAC
CA8764460 rs762435393	494	Q>H		No	ClinGen ExAC gnomAD
CA401031198 rs1274961522	494	Q>R		No	ClinGen gnomAD
rs1568005657 CA401031248	498	V>A		No	ClinGen Ensembl
CA401031258 rs759701548	499	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8764463 rs759701548	499	P>R		No	ClinGen ExAC TOPMed gnomAD
CA8764462 rs750809505	499	P>S		No	ClinGen ExAC gnomAD
rs1387373499 CA401031272	501	I>V		No	ClinGen gnomAD
rs574027505 CA294080868	503	A>S		No	ClinGen TOPMed gnomAD
CA173721 rs587784477 RCV000147776	504	L>P		No	ClinGen ClinVar Ensembl dbSNP
CA8764464 rs766045873	506	D>E		No	ClinGen ExAC gnomAD
CA401031337 rs1344955759	507	H>D		No	ClinGen TOPMed
CA401031342 rs1326783189	507	H>R		No	ClinGen gnomAD
rs200275380 CA294080885	508	G>D		No	ClinGen Ensembl
CA401031376 rs1231249859	510	I>N		No	ClinGen TOPMed
rs1131691447 RCV000493728	511	S>missing		No	ClinVar dbSNP
rs1325788692 CA401031383	511	S>A		No	ClinGen gnomAD
CA401031409 rs1361068437	513	Y>H		No	ClinGen TOPMed
CA8764469 rs756083860	515	F>C		No	ClinGen ExAC gnomAD
rs777374981 CA8764470	517	D>N		No	ClinGen ExAC gnomAD
rs749096965 CA8764471 RCV000492925	518	F>L		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA294080913 rs375372747	519	T>M		No	ClinGen Ensembl
rs1568005792 CA401031474	520	L>F		No	ClinGen Ensembl
CA8764474 rs780397472	521	P>S		No	ClinGen ExAC gnomAD
CA294080921 rs370708679	522	Q>*		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs370708679 CA8764475	522	Q>E		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs200445428 CA8764476	526	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1451242014 CA401031540	526	H>R		No	ClinGen TOPMed

3 associated diseases with Q7Z6J9

[MIM: 225753]: Pontocerebellar hypoplasia 4 (PCH4)

A disorder characterized by an abnormally small cerebellum and brainstem, severe neonatal encephalopathy, microcephaly, myoclonus and muscular hypertonia. There is a severe inferior olivary and pontine neuronal loss and a diffuse white matter gliosis. {ECO:0000269|PubMed:18711368, ECO:0000269|PubMed:21824568}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 277470]: Pontocerebellar hypoplasia 2A (PCH2A)

A disorder characterized by an abnormally small cerebellum and brainstem, and progressive microcephaly from birth combined with extrapyramidal dyskinesia. Severe chorea occurs and epilepsy is frequent. There are no signs of spinal cord anterior horn cells degeneration. {ECO:0000269|PubMed:18711368, ECO:0000269|PubMed:23307886}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 610204]: Pontocerebellar hypoplasia 5 (PCH5)

A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum. Brain MRI shows an abnormally small cerebellum and brainstem, decreased cerebral white matter, and a thin corpus callosum. {ECO:0000269|PubMed:21368912}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A disorder characterized by an abnormally small cerebellum and brainstem, severe neonatal encephalopathy, microcephaly, myoclonus and muscular hypertonia. There is a severe inferior olivary and pontine neuronal loss and a diffuse white matter gliosis. {ECO:0000269|PubMed:18711368, ECO:0000269|PubMed:21824568}. Note=The disease is caused by variants affecting the gene represented in this entry.
A disorder characterized by an abnormally small cerebellum and brainstem, and progressive microcephaly from birth combined with extrapyramidal dyskinesia. Severe chorea occurs and epilepsy is frequent. There are no signs of spinal cord anterior horn cells degeneration. {ECO:0000269|PubMed:18711368, ECO:0000269|PubMed:23307886}. Note=The disease is caused by variants affecting the gene represented in this entry.
A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum. Brain MRI shows an abnormally small cerebellum and brainstem, decreased cerebral white matter, and a thin corpus callosum. {ECO:0000269|PubMed:21368912}. Note=The disease is caused by variants affecting the gene represented in this entry.

1 regional properties for Q7Z6J9

Type	Name	Position	InterPro Accession
domain	tRNA-splicing endonuclease, subunit Sen54, N-terminal	64 - 129	IPR024336

Functions

		Description
EC Number
Subcellular Localization	Nucleus Nucleus, nucleolus	May be transiently localized in the nucleolus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
tRNA-intron endonuclease complex	A protein complex that catalyzes the endonucleolytic cleavage of pre-tRNA, producing 5'-hydroxyl and 2',3'-cyclic phosphate termini, and specifically removing the intron.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

3 GO annotations of biological process

Name	Definition
mRNA processing	Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide.
tRNA splicing, via endonucleolytic cleavage and ligation	Splicing of tRNA substrates via recognition of the folded RNA structure that brings the 5' and 3' splice sites into proximity and cleavage of the RNA at both the 3' and 5' splice sites by an endonucleolytic mechanism, followed by ligation of the exons.
tRNA-type intron splice site recognition and cleavage	RNA processing that begins when the tertiary structure of a tRNA type intron is recognized, and ends when the endonucleolytic cleavage of the RNA at both the 5' and 3' splice sites occurs.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MEPEPEPAAV	EVPAGRVLSA	RELFAARSRS	QKLPQRSHGP	KDFLPDGSAA	QAERLRRCRE
70	80	90	100	110	120
ELWQLLAEQR	VERLGSLVAA	EWRPEEGFVE	LKSPAGKFWQ	TMGFSEQGRQ	RLHPEEALYL
130	140	150	160	170	180
LECGSIHLFH	QDLPLSIQEA	YQLLLTDHTV	TFLQYQVFSH	LKRLGYVVRR	FQPSSVLSPY
190	200	210	220	230	240
ERQLNLDASV	QHLEDGDGKR	KRSSSSPRSI	NKKAKALDNS	LQPKSLAASS	PPPCSQPSQC
250	260	270	280	290	300
PEEKPQESSP	MKGPGGPFQL	LGSLGPSPGP	AREGVGCSWE	SGRAENGVTG	AGKRRWNFEQ
310	320	330	340	350	360
ISFPNMASDS	RHTLLRAPAP	ELLPANVAGR	ETDAESWCQK	LNQRKEKLSR	REREHHAEAA
370	380	390	400	410	420
QFQEDVNADP	EVQRCSSWRE	YKELLQRRQV	QRSQRRAPHL	WGQPVTPLLS	PGQASSPAVV
430	440	450	460	470	480
LQHISVLQTT	HLPDGGARLL	EKSGGLEIIF	DVYQADAVAT	FRKNNPGKPY	ARMCISGFDE
490	500	510	520
PVPDLCSLKR	LSYQSGDVPL	IFALVDHGDI	SFYSFRDFTL	PQDVGH