AiPD: Autoinhibited Protein Database

Q9UHJ3

Gene name	SFMBT1 (RU1)
Protein name	Scm-like with four MBT domains protein 1
Names	hSFMBT, Renal ubiquitous protein 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:51460
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

603-810 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

603-810 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

1 structures for Q9UHJ3

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9UHJ3-F1	Predicted				AlphaFoldDB

535 variants for Q9UHJ3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
TCGA novel	1	M>?	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2451087 rs767455802	3	G>E		No	ClinGen ExAC gnomAD
rs1009918956 CA75026711	3	G>R		No	ClinGen gnomAD
CA2451086 rs761729090	4	E>*		No	ClinGen ExAC gnomAD
CA2451085 rs773920924	5	Q>*		No	ClinGen ExAC gnomAD
rs1191517525 CA353381087	7	L>F		No	ClinGen gnomAD
rs919970575 CA75026709	8	D>V		No	ClinGen TOPMed
CA2451068 rs569986448	10	D>G		No	ClinGen 1000Genomes ExAC gnomAD
rs143066322 CA2451067	11	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1197840398 CA353380611	12	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2451064 rs769340342	13	S>C		No	ClinGen ExAC gnomAD
rs974825440 CA75025061	14	G>C		No	ClinGen Ensembl
rs759249211 CA2451063	15	M>V		No	ClinGen ExAC gnomAD
CA353380574 rs1231168217	17	E>D		No	ClinGen TOPMed gnomAD
TCGA novel	18	V>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	19	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353380538 rs1284670069	22	W>*		No	ClinGen gnomAD
CA2451062 rs773778376	22	W>L		No	ClinGen ExAC gnomAD
TCGA novel	23	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1441354408 CA353380534	23	E>K		No	ClinGen gnomAD
CA353380527 rs1333530460	24	D>Y		No	ClinGen gnomAD
rs200805193 CA2451059	25	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
CA2451060 rs189181874	25	Y>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs533827143 CA2451056	29	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs746062679 CA2451054	30	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1182998030 CA353380486	30	G>R		No	ClinGen gnomAD
rs746062679 CA2451055	30	G>V		No	ClinGen ExAC TOPMed gnomAD
rs781016738 CA2451053	31	S>A		No	ClinGen ExAC gnomAD
CA2451052 rs757069018	32	T>I		No	ClinGen ExAC gnomAD
CA2451051 rs751326933	33	A>V		No	ClinGen ExAC gnomAD
rs763939966 CA2451050	36	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA353380454 rs1211624316	36	Y>H		No	ClinGen gnomAD
rs1223207516 CA353380445	37	G>E		No	ClinGen gnomAD
rs1290300194 CA353380448	37	G>R		No	ClinGen gnomAD
CA2451049 rs758294832	38	S>C		No	ClinGen ExAC gnomAD
rs1379549740 CA353380419	41	H>Y		No	ClinGen TOPMed
rs1475320406 CA353380088	42	V>G		No	ClinGen gnomAD
rs752649142 CA2451031	43	D>N		No	ClinGen ExAC gnomAD
CA2451030 rs147773729	45	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1300607075 CA353380072	45	R>H		No	ClinGen gnomAD
rs766144781 CA2451027	51	A>V		No	ClinGen ExAC gnomAD
rs1430402685 CA353380027	52	P>A		No	ClinGen TOPMed gnomAD
CA353380025 rs1430402685	52	P>S		No	ClinGen TOPMed gnomAD
rs950898448 CA75023872	53	G>R		No	ClinGen TOPMed
rs1300632131 CA353379980	59	A>S		No	ClinGen gnomAD
CA75023871 rs940242324	59	A>V		No	ClinGen Ensembl
TCGA novel	60	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353379966 rs1420818886	61	R>K		No	ClinGen gnomAD
CA75023870 rs758076601	62	T>R		No	ClinGen Ensembl
CA353379957 rs1309792929	63	D>Y		No	ClinGen TOPMed
rs112483165 CA75023869	66	T>I		No	ClinGen Ensembl
rs1330510974 CA353379934	66	T>S		No	ClinGen TOPMed
rs1575391160 CA353379914	68	W>C		No	ClinGen Ensembl
rs142053347 CA2451023	72	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs142053347 CA2451024	72	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1559520377 CA353379887	73	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs987098356 CA75023868	74	T>A		No	ClinGen Ensembl
rs1559520369 CA353379855	78	Q>*		No	ClinGen Ensembl
rs770249107 CA2451021	78	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA353379853 rs776089661	78	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs776089661 CA2451022	78	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs759615112 CA2451020	80	L>F		No	ClinGen ExAC gnomAD
rs955355998 CA75023867	83	R>C		No	ClinGen Ensembl
TCGA novel	83	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2451019 rs765640976	84	Y>F		No	ClinGen ExAC gnomAD
rs765640976 CA75023866	84	Y>S		No	ClinGen ExAC gnomAD
CA353379812 rs1265028551	85	D>G		No	ClinGen gnomAD
CA2451018 rs771197546	87	Y>C		No	ClinGen ExAC gnomAD
rs747246589 CA353379792	88	G>A		No	ClinGen ExAC TOPMed gnomAD
CA2451017 rs747246589	88	G>E		No	ClinGen ExAC TOPMed gnomAD
CA353379771 rs1211548153	91	R>Q		No	ClinGen gnomAD
TCGA novel	91	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	94	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs79656631 CA2451015	101	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142806347 CA75023865	102	A>T		No	ClinGen ESP TOPMed
rs1575391062 CA353379676	104	L>R		No	ClinGen Ensembl
TCGA novel	106	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2451013 rs779024035	106	P>R		No	ClinGen ExAC gnomAD
CA353379658 rs1474870335	107	I>T		No	ClinGen TOPMed
rs1341145887 CA353379621	112	Q>R		No	ClinGen gnomAD
CA353379609 rs1401218446	113	N>K		No	ClinGen gnomAD
CA75023864 rs41275525	116	T>P		No	ClinGen Ensembl
rs1164268797 CA353379583	117	L>P		No	ClinGen TOPMed
CA2451009 rs755766084	118	E>G		No	ClinGen ExAC TOPMed gnomAD
CA353379581 rs553226022	118	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2451010 rs553226022	118	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750072811 CA2451008	119	A>T		No	ClinGen ExAC gnomAD
CA353379567 rs1408410599	120	P>R		No	ClinGen gnomAD
TCGA novel	121	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763410426 CA353379564	121	E>K		No	ClinGen ExAC gnomAD
rs763410426 CA2451006	121	E>Q		No	ClinGen ExAC gnomAD
rs1162276769 CA353379533	123	I>F		No	ClinGen TOPMed gnomAD
rs1162276769 CA353379532	123	I>L		No	ClinGen TOPMed gnomAD
rs1432187673 CA353379526	124	R>G		No	ClinGen TOPMed
CA2450990 rs780905490	124	R>K		No	ClinGen ExAC gnomAD
rs753115859 CA2450988	125	D>E		No	ClinGen ExAC gnomAD
rs367969218 CA2450989	125	D>N		No	ClinGen ExAC TOPMed gnomAD
CA2450987 rs765577648	127	V>L		No	ClinGen ExAC gnomAD
CA353379488 rs1299155779	129	D>E		No	ClinGen TOPMed
CA75022966 rs943134230	130	W>G		No	ClinGen Ensembl
CA353379475 rs1306397519	131	D>E		No	ClinGen TOPMed gnomAD
CA2450985 rs201654314	131	D>G		No	ClinGen ExAC TOPMed gnomAD
CA2450986 rs760071399	131	D>N		No	ClinGen ExAC gnomAD
CA353379470 rs1444598800	132	E>A		No	ClinGen gnomAD
CA353379467 rs375911318	132	E>D		No	ClinGen ESP gnomAD
CA2450983 rs748760209	135	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1440421494 CA353379451	135	R>W		No	ClinGen gnomAD
rs371188276 CA75022964	136	Q>H		No	ClinGen ESP TOPMed gnomAD
rs767839291 CA353379434	138	L>V		No	ClinGen ExAC gnomAD
rs1450219979 CA353379426	139	I>K		No	ClinGen TOPMed
CA2450979 rs774328121	139	I>L		No	ClinGen ExAC TOPMed gnomAD
rs768549724 CA2450978	139	I>M		No	ClinGen ExAC TOPMed gnomAD
CA353379425 rs1423361341	140	G>R		No	ClinGen TOPMed
CA2450977 rs559416772	142	C>R		No	ClinGen 1000Genomes ExAC gnomAD
CA2450976 rs545932380	143	S>G		No	ClinGen 1000Genomes ExAC gnomAD
CA353379387 rs1265707777	146	V>I		No	ClinGen gnomAD
CA2450975 rs200381952	147	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs200849255 CA75022962	147	P>S		No	ClinGen gnomAD
CA353379367 rs1559516906	150	E>K		No	ClinGen Ensembl
rs1310064771	151	G>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1234206615 CA353379266	153	R>C		No	ClinGen gnomAD
rs545326234 CA2450961	153	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2450960 rs146679648	154	N>S		No	ClinGen ESP ExAC gnomAD
rs769825139 CA2450958	156	R>K		No	ClinGen ExAC gnomAD
CA2450957 rs745786192	161	L>H		No	ClinGen ExAC gnomAD
rs1575382863 CA353379123	164	P>L		No	ClinGen Ensembl
CA2450956 rs753169382	165	G>E		No	ClinGen ExAC gnomAD
CA2450955 rs770402566	167	R>G		No	ClinGen ExAC gnomAD
rs1172853285 CA353379093	168	L>V		No	ClinGen gnomAD
CA2450954 rs144880451	170	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA2450952 rs757976784	173	F>S		No	ClinGen ExAC TOPMed gnomAD
CA2450951 rs749665135	175	D>E		No	ClinGen ExAC gnomAD
rs1479097241 CA353379007	175	D>V		No	ClinGen gnomAD
rs780279554 CA2450950	176	S>C		No	ClinGen ExAC gnomAD
rs780279554 CA75022733	176	S>F		No	ClinGen ExAC gnomAD
CA353378991 rs1440817357	178	S>N		No	ClinGen gnomAD
CA353378981 rs1280810093	179	T>I		No	ClinGen gnomAD
rs756686803 CA2450949	183	T>I		No	ClinGen ExAC gnomAD
rs151197006 CA2450948	185	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2450947 rs200651934	186	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA353378934 rs1292643409	187	N>D		No	ClinGen gnomAD
CA2450946 rs562704386	188	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA353378926 rs1425077201	188	I>V		No	ClinGen TOPMed
rs764427895 CA2450944	193	K>R		No	ClinGen ExAC gnomAD
CA2450945 rs764427895	193	K>T		No	ClinGen ExAC gnomAD
CA2450943 rs146102086	195	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA75022732 rs558266493	195	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1166775274 CA353378849	200	E>G		No	ClinGen gnomAD
CA75022731 rs904611545	202	S>F		No	ClinGen Ensembl
CA353378830 rs1424757537	203	D>G		No	ClinGen gnomAD
rs759563295 CA2450940	203	D>N		No	ClinGen ExAC TOPMed gnomAD
CA353378812 rs142835908	205	Y>*		No	ClinGen ESP ExAC gnomAD
rs776455170 CA2450939	205	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA353378805 rs1239290261	206	E>D		No	ClinGen gnomAD
CA353378808 rs1379862277	206	E>V		No	ClinGen gnomAD
rs760181342 CA2450937	207	H>D		No	ClinGen ExAC gnomAD
rs772649976 CA2450936	207	H>R		No	ClinGen ExAC gnomAD
rs771780235 CA2450935	210	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	213	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	215	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs573414873 CA2450933	217	H>R		No	ClinGen 1000Genomes ExAC
rs1010106142 CA75022730	219	V>L		No	ClinGen TOPMed
rs895710935 CA75022729	223	A>V		No	ClinGen gnomAD
rs374178747 CA2450929	225	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2450928 rs751749764	227	Y>C		No	ClinGen ExAC gnomAD
CA2450927 rs777992887	228	E>K		No	ClinGen ExAC gnomAD
rs200164982 CA75022728	232	P>T		No	ClinGen Ensembl
rs746233508 CA2450912	234	A>D		No	ClinGen ExAC TOPMed gnomAD
rs746233508 CA75022632	234	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1401564294 CA353378619	234	A>T		No	ClinGen gnomAD
CA2450911 rs138462433	235	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA353378596 rs1161404959	236	R>G		No	ClinGen TOPMed
CA2450910 rs771628668	237	H>L		No	ClinGen ExAC gnomAD
TCGA novel	239	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2450909 rs747484489	240	N>H		No	ClinGen ExAC TOPMed gnomAD
rs778046879 CA2450908	240	N>K		No	ClinGen ExAC gnomAD
TCGA novel	240	N>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353378552 rs1189286433	242	A>D		No	ClinGen gnomAD
rs1189286433 CA353378551	242	A>G		No	ClinGen gnomAD
rs1478911332 CA353378529	245	Q>P		No	ClinGen gnomAD
CA2450906 rs752780414	248	L>M		No	ClinGen ExAC TOPMed gnomAD
CA2450905 rs779006602	249	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2450904 rs373288404	249	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA353378491 rs1559515211	251	V>M		No	ClinGen Ensembl
rs1311282083 CA353378484	252	K>E		No	ClinGen gnomAD
CA353378470 rs753632764	253	E>D		No	ClinGen ExAC TOPMed gnomAD
rs961593192 CA75022631	256	E>K		No	ClinGen TOPMed gnomAD
CA353378438 rs1389189429	258	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2450879 rs35652837	267	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2450878 rs188260557	270	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2450875 rs751100746	274	T>I		No	ClinGen ExAC gnomAD
CA353378301 rs1183041108	275	F>L		No	ClinGen gnomAD
CA353378295 rs1447126283	276	S>F		No	ClinGen TOPMed
CA353378277 rs1380345534	279	M>T		No	ClinGen TOPMed
TCGA novel	280	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2450873 rs369463608	284	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1456756889 CA353378234	285	D>A		No	ClinGen gnomAD
rs1260385472 CA353378231	285	D>E		No	ClinGen TOPMed gnomAD
rs1321578981 CA353378207	289	P>A		No	ClinGen gnomAD
rs1310686647 CA353378203	289	P>L		No	ClinGen gnomAD
TCGA novel	289	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1256284484 CA353378176	293	S>F		No	ClinGen TOPMed
CA75022578 rs761123540	294	P>A		No	ClinGen ExAC gnomAD
rs761123540 CA2450870	294	P>S		No	ClinGen ExAC gnomAD
CA2450848 rs768980314	302	D>G		No	ClinGen ExAC TOPMed gnomAD
CA353378085 rs139594702	304	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1014626054 CA75022347	310	M>T		No	ClinGen TOPMed
CA2450845 rs770071383	314	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2450846 rs770071383	314	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2450844 rs150560425	314	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2450843 rs150560425 RCV000956105	314	R>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2450841 CA353377996 rs372272113	317	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA353377983 rs1473884174	319	A>G		No	ClinGen gnomAD
CA353377986 rs141910637	319	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs141910637 CA2450839	319	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs375175444 CA2450836	320	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2450835 rs375175444	320	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs778562011 CA2450837	320	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1405491518 CA353377979	321	R>*		No	ClinGen gnomAD
CA2450833 rs762244151	321	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs764646162 CA2450831	324	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1575379460 CA353377949	326	H>N		No	ClinGen Ensembl
CA2450829 rs201801140	327	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs562352832 CA2450827	328	D>N		No	ClinGen ExAC TOPMed gnomAD
CA353377935 rs562352832	328	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1263050893 CA353377928	329	S>G		No	ClinGen gnomAD
CA2450826 rs776938872	330	P>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	331	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1489342733 CA353377913	331	G>D		No	ClinGen gnomAD
rs770989703 CA2450825	332	I>V		No	ClinGen ExAC gnomAD
CA353377892 rs1343021142	334	P>R		No	ClinGen TOPMed
rs1575379389 CA353377877	336	Q>H		No	ClinGen Ensembl
TCGA novel	336	Q>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1223852317 CA353377863	338	S>T		No	ClinGen gnomAD
CA353377857 rs1270487103	339	L>Q		No	ClinGen TOPMed
CA75022344 rs973954493	341	N>I		No	ClinGen TOPMed gnomAD
CA353377842 rs973954493	341	N>S		No	ClinGen TOPMed gnomAD
CA353377830 rs1203052493	343	L>P		No	ClinGen gnomAD
rs748067060 CA2450821	348	P>A		No	ClinGen ExAC gnomAD
rs1326572626 CA353377797	348	P>L		No	ClinGen gnomAD
CA353377798 rs748067060	348	P>S		No	ClinGen ExAC gnomAD
rs1393940153 CA353377789	349	P>L		No	ClinGen gnomAD
rs1445568836 CA353377767	351	Y>S		No	ClinGen TOPMed gnomAD
rs375778606 CA2450803	352	P>S		No	ClinGen ESP ExAC gnomAD
CA2450802 rs774436293	353	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1412146966 CA353377748	354	Q>E		No	ClinGen gnomAD
rs756031171 CA2450800	356	F>L		No	ClinGen ExAC TOPMed gnomAD
CA2450799 rs144071796	357	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1439246980 CA353377658	366	G>S		No	ClinGen gnomAD
CA2450797 rs745489576	368	E>G		No	ClinGen ExAC gnomAD
CA353377629 rs1206292932	370	A>V		No	ClinGen gnomAD
CA2450796 rs780779248	371	P>L		No	ClinGen ExAC TOPMed gnomAD
CA353377617 rs1326257687	372	Q>H		No	ClinGen TOPMed gnomAD
CA353377605 rs1207966576	374	C>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs754014702	377	P>=	Variant assessed as Somatic; 4.652e-05 impact. [NCI-TCGA]	No	NCI-TCGA
rs535877148 CA2450792	377	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs535877148 CA2450793	377	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs572144123 CA75021680	380	S>A		No	ClinGen Ensembl
rs1161631373 CA353377552	380	S>F		No	ClinGen gnomAD
rs762124629 CA2450768	382	H>N		No	ClinGen ExAC gnomAD
CA2450767 rs751442498	383	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1170536631 CA353377487	389	K>E		No	ClinGen gnomAD
CA908179780 rs1324202112	389	K>N		No	ClinGen TOPMed
rs762763268 CA2450765	392	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	394	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2450762 rs759057208	396	I>V		No	ClinGen ExAC
rs1243337923 CA353377414	400	E>Q		No	ClinGen gnomAD
rs1010825512 CA75021679	401	V>M		No	ClinGen Ensembl
CA353377398 rs1216070499	402	C>Y		No	ClinGen TOPMed gnomAD
rs374727301 CA75021678	404	A>G		No	ClinGen ESP TOPMed
CA2450760 rs770635390	404	A>T		No	ClinGen ExAC gnomAD
rs779382428 CA2450758	405	T>A		No	ClinGen ExAC gnomAD
TCGA novel	405	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353377363 rs1338611495	408	A>E		No	ClinGen TOPMed gnomAD
rs1338611495 CA353377361	408	A>V		No	ClinGen TOPMed gnomAD
rs1358755842 CA353377334	413	Y>H		No	ClinGen gnomAD
CA353377332 rs1575374797	413	Y>S		No	ClinGen Ensembl
CA75021676 rs371573708	417	Q>E		No	ClinGen ESP TOPMed
rs756631344 CA2450754	417	Q>H		No	ClinGen ExAC gnomAD
CA353377300 rs1212640476	418	L>V		No	ClinGen gnomAD
CA353377292 rs1575374769	419	E>G		No	ClinGen Ensembl
rs760128413 CA2450730	423	K>N		No	ClinGen ExAC TOPMed gnomAD
rs772770889 CA2450729	425	I>V		No	ClinGen ExAC gnomAD
TCGA novel	426	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766887391 CA74840315	428	C>R		No	ClinGen Ensembl
CA2450728 rs771697556	428	C>Y		No	ClinGen ExAC gnomAD
CA2450727 rs749674159	430	V>M		No	ClinGen ExAC TOPMed gnomAD
CA2450726 rs200694315	434	S>C		No	ClinGen ExAC gnomAD
rs1253640564 CA353230500	435	M>V		No	ClinGen gnomAD
CA2450725 rs770465491	437	I>M		No	ClinGen ExAC gnomAD
CA353230419 rs1559510946	438	F>Y		No	ClinGen Ensembl
rs1321262516 CA353230401	439	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA353230235 rs1289596111	446	N>S		No	ClinGen TOPMed gnomAD
CA353230206 rs1156587088	447	G>D		No	ClinGen TOPMed
rs1383736172 CA353230220	447	G>S		No	ClinGen gnomAD
CA353230164 rs1386921172	449	P>R		No	ClinGen TOPMed
rs377104271 CA74840275	449	P>S		No	ClinGen Ensembl
rs1389501198 CA353230156	450	L>I		No	ClinGen gnomAD
CA353230112 rs1330540210	452	T>P		No	ClinGen TOPMed
CA74840270 rs1031741535	453	P>A		No	ClinGen TOPMed
rs1298738082 CA353230095	453	P>R		No	ClinGen gnomAD
RCV000949697 CA2450721 rs75244018	454	R>C		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs182385312 CA2450720	454	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA353230083 rs1575373923	455	R>*		No	ClinGen Ensembl
rs1164873334 CA353230079	455	R>P		No	ClinGen TOPMed gnomAD
rs1164873334 CA353230081	455	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA353230062 rs1379265737	457	R>G		No	ClinGen gnomAD
CA2450718 rs752497833	457	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA353229853 rs1433145652	459	Y>C		No	ClinGen TOPMed gnomAD
rs1160224426 CA353229861	459	Y>H		No	ClinGen gnomAD
CA353229841 rs1267427937	460	K>E		No	ClinGen gnomAD
rs777277773 CA2450701	460	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1192678115 CA353229805	462	R>K		No	ClinGen TOPMed gnomAD
CA2450699 rs771501963	464	I>V		No	ClinGen ExAC gnomAD
CA74838575 rs1018815646	471	K>Q		No	ClinGen Ensembl
CA353229081 rs1386382119	473	V>A		No	ClinGen TOPMed
CA353229085 rs1559509189	473	V>I		No	ClinGen Ensembl
rs777992965 CA2450680	474	P>L		No	ClinGen ExAC TOPMed gnomAD
rs769924814 CA2450679	476	S>L		No	ClinGen ExAC gnomAD
rs964954532 CA74836926	479	V>I		No	ClinGen TOPMed
rs151052292 CA353228996	480	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149793544 CA2450675	481	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA2450676 rs748138282	481	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1454359361 CA353228964	482	G>C		No	ClinGen TOPMed
CA2450674 rs781234500	482	G>V		No	ClinGen ExAC TOPMed gnomAD
rs372117971 CA2450672	486	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs750394076 CA2450670	488	L>P		No	ClinGen ExAC gnomAD
rs1183925977 CA353228862	490	S>P		No	ClinGen gnomAD
CA2450668 rs756793367	491	T>R		No	ClinGen ExAC gnomAD
CA74836827 rs956081445	493	S>T		No	ClinGen Ensembl
CA2450646 rs752423354 CA2450647	495	M>I		No	ClinGen ExAC TOPMed gnomAD
rs777390457 CA2450649	495	M>R		No	ClinGen ExAC gnomAD
rs777390457 CA2450648	495	M>T		No	ClinGen ExAC gnomAD
rs1350498920 CA353228722	496	I>T		No	ClinGen gnomAD
TCGA novel	504	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	504	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764757789 CA2450645	506	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs1303039895 CA353228633	508	N>S		No	ClinGen gnomAD
CA2450644 rs756506535	509	H>R		No	ClinGen ExAC gnomAD
rs1054876837 CA74834814	510	R>C		No	ClinGen gnomAD
CA2450643 rs750697192	510	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1405537657 CA353228546	521	R>K		No	ClinGen TOPMed gnomAD
rs1405537657 CA353228545	521	R>T		No	ClinGen TOPMed gnomAD
CA2450642 rs367911999	522	I>V		No	ClinGen ESP ExAC gnomAD
CA2450640 rs774463246	525	L>Q		No	ClinGen ExAC gnomAD
CA353228512 rs1197165560	526	P>L		No	ClinGen gnomAD
CA353228500 rs1431148341	528	C>Y		No	ClinGen gnomAD
CA353228495 rs1363155221	529	V>I		No	ClinGen TOPMed
CA353228466 rs1559508243	533	N>I		No	ClinGen Ensembl
rs1481372741 CA353228398	542	L>V		No	ClinGen gnomAD
CA353228373 rs1185404050	546	I>V		No	ClinGen gnomAD
CA74834040 rs1049280711	547	N>S		No	ClinGen gnomAD
CA74834039 rs929112242	549	A>G		No	ClinGen TOPMed gnomAD
CA353228335 rs1575367121	551	K>N		No	ClinGen Ensembl
rs1471585181 CA353228326	553	S>G		No	ClinGen TOPMed
rs763030910 CA2450620	554	R>C		No	ClinGen ExAC gnomAD
CA74834006 rs865906393	556	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs765557845 CA2450618	557	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2450619 rs775415477	557	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2450617 rs759649800	558	E>K		No	ClinGen ExAC gnomAD
TCGA novel	558	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA74833995 rs778175189	563	K>N		No	ClinGen Ensembl
CA353228249 rs1302119904	565	S>A		No	ClinGen gnomAD
CA353228244 rs897311411	566	V>L		No	ClinGen TOPMed
rs897311411 CA74833990	566	V>M		No	ClinGen TOPMed
CA2450616 rs570715537	567	W>R		No	ClinGen 1000Genomes ExAC gnomAD
rs377570378 CA2450614	569	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA353228216 rs1431665999	570	C>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	571	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2450613 rs773287869	571	G>R		No	ClinGen ExAC gnomAD
rs772079939 CA2450612	573	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1454400620 CA353227896	580	G>R		No	ClinGen gnomAD
rs760560804 CA353227886	581	K>R		No	ClinGen ExAC gnomAD
rs760560804 CA2450594	581	K>T		No	ClinGen ExAC gnomAD
CA2450592 rs140740471	584	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs183218584 CA2450593	584	R>W		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	585	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353227853 rs1484465288	586	T>I		No	ClinGen TOPMed
rs774295082 CA2450590	587	V>A		No	ClinGen ExAC gnomAD
rs761633706 CA2450591	587	V>I		No	ClinGen ExAC gnomAD
CA74832852 rs111615944	588	E>G		No	ClinGen Ensembl
CA2450589 rs145677464	588	E>Q		No	ClinGen ESP ExAC TOPMed
CA2450588 rs748764647	590	V>L		No	ClinGen ExAC gnomAD
CA353227799 rs1295175089	595	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA353227795 rs940640665	596	V>L		No	ClinGen TOPMed
rs940640665 CA74832840	596	V>M		No	ClinGen TOPMed
rs1374662892 CA353227745	603	T>A		No	ClinGen TOPMed
CA353227717 rs1312134001	607	L>M		No	ClinGen gnomAD
CA2450585 rs747436260	608	E>A		No	ClinGen ExAC gnomAD
rs778076365 CA2450584	609	C>F		No	ClinGen ExAC gnomAD
rs1206001338 CA353227662	615	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA353227655 rs1358761221	616	P>S		No	ClinGen gnomAD
rs544641382 CA2450580	617	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA2450581 rs79007826	617	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2450579 rs141544187	619	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs766768225 CA2450578	620	L>P		No	ClinGen ExAC gnomAD
CA2450577 rs760975557	622	K>E		No	ClinGen ExAC TOPMed gnomAD
CA353227621 rs760975557	622	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs750284898 CA2450576	623	C>Y		No	ClinGen ExAC
rs953163157 CA74832725	626	N>K		No	ClinGen Ensembl
TCGA novel	626	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2450574 rs761629031	627	C>R		No	ClinGen ExAC gnomAD
CA2450573 rs774158740	627	C>Y		No	ClinGen ExAC gnomAD
CA353227576 rs1424896492	628	S>C		No	ClinGen gnomAD
rs774974364 CA2450570	635	Y>C		No	ClinGen ExAC gnomAD
rs751353418 CA2450552	640	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA353227471 rs1321304590	641	K>N		No	ClinGen gnomAD
rs764001505 CA2450551	641	K>R		No	ClinGen ExAC gnomAD
rs762912756 CA2450550	642	K>R		No	ClinGen ExAC gnomAD
rs1233374786 CA353227441	645	K>R		No	ClinGen gnomAD
CA2450549 rs775025818	647	I>T		No	ClinGen ExAC gnomAD
rs759010457 CA2450547	651	P>L		No	ClinGen ExAC gnomAD
rs1367871006 CA353227398	651	P>S		No	ClinGen gnomAD
CA2450545 rs372237613	653	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs748520518 CA2450544	654	H>R		No	ClinGen ExAC gnomAD
CA353227345 rs1575363273	655	S>N		No	ClinGen Ensembl
rs774774896 CA74830506	658	A>G		No	ClinGen ExAC TOPMed gnomAD
rs774774896 CA2450543	658	A>V		No	ClinGen ExAC TOPMed gnomAD
rs769084473 CA2450542	664	A>T		No	ClinGen ExAC
rs749790570 CA2450540	665	S>T		No	ClinGen ExAC TOPMed gnomAD
rs368026256 CA2450539	667	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2450537 rs745883343	668	R>K		No	ClinGen ExAC TOPMed gnomAD
CA353227167 rs1459778923	669	K>*		No	ClinGen gnomAD
CA353227169 rs1459778923	669	K>E		No	ClinGen gnomAD
rs1227846487 CA353227157	670	R>G		No	ClinGen TOPMed
CA2450536 rs781621064	671	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1215390024 CA353227141	671	R>W		No	ClinGen gnomAD
CA2450535 rs757493403	672	K>E		No	ClinGen ExAC gnomAD
rs1249104211 CA353227064	676	V>A		No	ClinGen gnomAD
rs763922711 CA2450533	677	H>D		No	ClinGen ExAC TOPMed gnomAD
CA2450530 rs765096836	677	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs758075898 CA2450532	677	H>R		No	ClinGen ExAC TOPMed gnomAD
rs963068945 CA74830380	681	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs575405720 CA2450527	681	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2450528 rs575405720	681	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1397115209 CA353226983	682	S>P		No	ClinGen gnomAD
CA2450526 rs760345758	683	S>F		No	ClinGen ExAC gnomAD
CA2450525 rs774628083	685	S>C		No	ClinGen ExAC TOPMed gnomAD
rs749597201 CA2450523	690	P>A		No	ClinGen ExAC gnomAD
rs1442552434 CA353226860	691	A>V		No	ClinGen TOPMed gnomAD
CA353226850 rs970354727	692	G>D		No	ClinGen TOPMed gnomAD
rs970354727 CA74830353	692	G>V		No	ClinGen TOPMed gnomAD
rs770410067 CA2450521	693	S>F		No	ClinGen ExAC gnomAD
CA353226836 rs1394165736	694	P>S		No	ClinGen gnomAD
CA353226827 rs1430688348	695	Q>E		No	ClinGen TOPMed
CA2450503 rs770461099	696	G>R		No	ClinGen ExAC gnomAD
CA353226744 rs1278306303	697	S>N		No	ClinGen gnomAD
CA353226717 rs1230773772	699	G>A		No	ClinGen TOPMed gnomAD
CA353226718 rs1230773772	699	G>D		No	ClinGen TOPMed gnomAD
CA2450502 rs552063469	700	E>A		No	ClinGen 1000Genomes ExAC gnomAD
CA2450501 rs776952012	702	E>Q		No	ClinGen ExAC
CA353226652 rs1282705496	703	D>E		No	ClinGen gnomAD
rs771070158 CA2450500	705	P>R		No	ClinGen ExAC gnomAD
CA2450499 rs746997664	706	D>G		No	ClinGen ExAC gnomAD
rs778072999 CA353226596	707	E>A		No	ClinGen ExAC gnomAD
CA2450498 rs778072999	707	E>G		No	ClinGen ExAC gnomAD
CA74830067 rs201619999	717	S>R		No	ClinGen TOPMed
rs778648595 CA2450495	718	T>I		No	ClinGen ExAC gnomAD
CA74830066 rs367653718	720	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA2450493 rs367653718	720	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA74830062 rs374172539	722	Q>*		No	ClinGen ESP
rs1478699637 CA353226367	726	Q>R		No	ClinGen TOPMed gnomAD
rs755661376 CA2450491	730	E>D		No	ClinGen ExAC TOPMed gnomAD
CA2450490 rs749885859	731	M>I		No	ClinGen ExAC gnomAD
CA2450488 rs761523684	735	K>E		No	ClinGen ExAC gnomAD
CA2450486 rs765717079	737	C>*		No	ClinGen ExAC gnomAD
rs1263021998 CA353226239	737	C>R		No	ClinGen gnomAD
CA2450487 rs563122290	737	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1275668964 CA353226182	742	T>S		No	ClinGen gnomAD
rs1324525909 CA353226167	743	Q>P		No	ClinGen TOPMed gnomAD
CA74830039 rs371159611	746	I>L		No	ClinGen ESP TOPMed gnomAD
rs1186277447 CA353226107	747	S>F		No	ClinGen gnomAD
CA74830038 rs957535255	747	S>P		No	ClinGen Ensembl
CA2450484 rs777202517	749	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA353226086 rs1415693207	751	P>S		No	ClinGen gnomAD
CA2450480 rs773165013	752	P>L		No	ClinGen ExAC gnomAD
CA353226077 rs1185634686	753	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs143300940 CA2450479	754	R>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1190947505 CA353226011	758	K>E		No	ClinGen gnomAD
CA353226007 rs1465591126	758	K>R		No	ClinGen gnomAD
rs748348277 CA2450478	759	R>K		No	ClinGen ExAC TOPMed gnomAD
CA2450476 rs549341438	762	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA2450475 rs748976524	762	R>H		No	ClinGen ExAC TOPMed gnomAD
CA2450473 rs756001447	763	T>I		No	ClinGen ExAC gnomAD
CA2450472 rs745423147	765	S>L		No	ClinGen ExAC TOPMed gnomAD
CA2450470 rs147669594	769	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs763769452 CA2450468	770	E>A		No	ClinGen ExAC TOPMed gnomAD
CA353225852 rs1450115968	770	E>K		No	ClinGen gnomAD
rs755386771 CA2450467	771	N>D		No	ClinGen ExAC gnomAD
CA2450466 rs186459505	773	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs186459505 CA353225807	773	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2450464 rs374308555	774	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA353225774 rs773391002	776	P>S		No	ClinGen ExAC TOPMed gnomAD
rs773391002 CA2450463	776	P>T		No	ClinGen ExAC TOPMed gnomAD
rs767606905 CA2450462	777	K>Q		No	ClinGen ExAC gnomAD
CA353225761 rs1180682662	777	K>R		No	ClinGen gnomAD
rs1490239550 CA353225249	778	E>K		No	ClinGen gnomAD
CA2450440 rs202194528	779	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs763062967 CA2450439	782	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1448074961 CA353225120	786	R>S		No	ClinGen TOPMed gnomAD
rs775729575 CA2450438	790	D>N		No	ClinGen ExAC gnomAD
CA353225047 rs1217655934	793	P>A		No	ClinGen TOPMed
rs759305868 CA2450436	797	S>N		No	ClinGen ExAC gnomAD
CA2450434 rs770982459	801	V>I		No	ClinGen ExAC TOPMed gnomAD
rs760494712 CA2450432	803	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA74829273 rs867253711	803	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	804	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1159098136 CA353224952	806	R>T		No	ClinGen gnomAD
CA2450430 rs780629488	815	R>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	816	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1433963152 CA353224818	824	G>R		No	ClinGen gnomAD
CA2450414 rs773235951	825	Q>K		No	ClinGen ExAC gnomAD
rs1466049892 CA353224800	826	A>V		No	ClinGen gnomAD
CA2450413 rs771514867	829	L>P		No	ClinGen ExAC gnomAD
CA353224781 rs1321105035	830	L>I		No	ClinGen gnomAD
rs1575361307 CA353224771	831	T>N		No	ClinGen Ensembl
rs528270317 CA2450411	833	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201883615 CA2450410	834	T>A		No	ClinGen ExAC TOPMed gnomAD
CA74828667 rs903280541	835	V>I		No	ClinGen TOPMed gnomAD
CA353224749 rs1239507094	836	Q>K		No	ClinGen TOPMed
rs1473367111 CA353224733	838	C>R		No	ClinGen TOPMed
CA353224725 rs1186430603	839	M>L		No	ClinGen TOPMed
rs757567961 CA2450408 CA2450407	840	D>E		No	ClinGen ExAC TOPMed gnomAD
CA2450406 rs752087891	841	L>*		No	ClinGen ExAC gnomAD
CA2450405 rs778273267	845	P>S		No	ClinGen ExAC gnomAD
rs200975156 CA2450404	847	I>F		No	ClinGen ExAC TOPMed gnomAD
CA353224672 rs200975156	847	I>L		No	ClinGen ExAC TOPMed gnomAD
rs200975156 CA2450403	847	I>V		No	ClinGen ExAC TOPMed gnomAD
rs146543428 CA2450402	848	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA353224611 rs1166884614	855	R>M		No	ClinGen gnomAD
CA353224598 rs1575361229	857	K>R		No	ClinGen Ensembl
CA353224552 rs1390551708	863	Q>R		No	ClinGen gnomAD
rs369500798 CA2450399	865	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs139862995 CA2450397	866	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs139862995 CA2450398	866	N>T		No	ClinGen ESP ExAC TOPMed gnomAD

No associated diseases with Q9UHJ3

9 regional properties for Q9UHJ3

Type	Name	Position	InterPro Accession
domain	Sterile alpha motif domain	793 - 859	IPR001660
repeat	Mbt repeat	20 - 123	IPR004092-1
repeat	Mbt repeat	128 - 235	IPR004092-2
repeat	Mbt repeat	242 - 351	IPR004092-3
repeat	Mbt repeat	356 - 455	IPR004092-4
domain	SLED domain	502 - 616	IPR021987
domain	Scm-like with four MBT domains protein 1/2, SAM domain	782 - 866	IPR037604
repeat	Scm-like with four MBT domains protein 1, third MBT repeat	273 - 366	IPR047351
repeat	Scm-like with four MBT domains protein 1, second MBT repeat	159 - 257	IPR047352

Functions

		Description
EC Number
Subcellular Localization	Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

3 GO annotations of molecular function

Name	Definition
chromatin binding	Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
histone binding	Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription.
transcription corepressor activity	A transcription coregulator activity that represses or decreases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators.

5 GO annotations of biological process

Name	Definition
cell differentiation	The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
chromatin organization	The assembly or remodeling of chromatin composed of DNA complexed with histones, other associated proteins, and sometimes RNA.
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
negative regulation of muscle organ development	Any process that stops, prevents, or reduces the frequency, rate or extent of muscle development.
spermatogenesis	The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa.

11 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q969R5	L3MBTL2	Lethal(3)malignant brain tumor-like protein 2	Homo sapiens (Human)	PR
Q9UQR0	SCML2	Sex comb on midleg-like protein 2	Homo sapiens (Human)	PR
Q96GD3	SCMH1	Polycomb protein SCMH1	Homo sapiens (Human)	PR
Q9Y468	L3MBTL1	Lethal(3)malignant brain tumor-like protein 1	Homo sapiens (Human)	PR
Q96JM7	L3MBTL3	Lethal(3)malignant brain tumor-like protein 3	Homo sapiens (Human)	PR
Q8BLB7	L3mbtl3	Lethal(3)malignant brain tumor-like protein 3	Mus musculus (Mouse)	PR
A2A5N8	L3mbtl1	Lethal(3)malignant brain tumor-like protein 1	Mus musculus (Mouse)	PR
Q9JMD1	Sfmbt1	Scm-like with four MBT domains protein 1	Mus musculus (Mouse)	PR
Q9JMD2	Sfmbt1	Scm-like with four MBT domains protein 1	Rattus norvegicus (Rat)	PR
B2D6M2	lin-61	Protein lin-61	Caenorhabditis elegans	PR
Q11193	sor-3	Sop-2-related protein 3	Caenorhabditis elegans	PR

10	20	30	40	50	60
MNGEQQLDAD	AGSGMEEVEL	SWEDYLEETG	STAVPYGSFK	HVDTRLQNGF	APGMKLEVAV
70	80	90	100	110	120
RTDPETYWVA	TVITTCEQLL	LLRYDGYGED	RRADFWCDIR	KADLYPIGWC	EQNKKTLEAP
130	140	150	160	170	180
EGIRDKVSDW	DEFLRQTLIG	ACSPPVPLLE	GLRNGRNPLD	LIAPGSRLEC	QAFQDSLSTW
190	200	210	220	230	240
IVTVVENIGG	RLKLRYEGLE	SSDNYEHWLY	YLDPFLHHVG	WAAQQGYELQ	PPSAIRHLKN
250	260	270	280	290	300
EAEWQEILAK	VKEEEEEPLP	SYLFKDKQVI	GIHTFSVNMK	LEAVDPWSPF	GISPATVVKV
310	320	330	340	350	360
FDEKYFLVEM	DDLRPENHAR	RSFVCHADSP	GIFPVQWSLK	NGLHISPPPG	YPSQDFDWAD
370	380	390	400	410	420
YLKQCGAEAA	PQRCFPPLIS	EHEFKENMKL	EAVNPILPEE	VCVATITAVR	GSYLWLQLEG
430	440	450	460	470	480
SKKPIPECIV	SVESMDIFPL	GWCETNGHPL	STPRRARVYK	QRKIAVVQPE	KQVPSSRTVH
490	500	510	520	530	540
EGLRNQELNS	TESVMINGKY	CCPKIYFNHR	CFSGPYLNKG	RIAELPQCVG	PGNCVLVLRE
550	560	570	580	590	600
VLTLLINAAY	KPSRVLRELQ	LDKDSVWHGC	GEVLKAKYKG	KSYRATVEIV	KTADRVTEFC
610	620	630	640	650	660
RQTCIKLECC	PNLFGPRMVL	DKCSENCSVL	TKTKYTHYYG	KKKNKRIGRP	PGGHSNLACA
670	680	690	700	710	720
LKKASKRRKR	RKNVFVHKKK	RSSASVDNTP	AGSPQGSGGE	DEDDPDEGDD	DSLSEGSTSE
730	740	750	760	770	780
QQDELQEESE	MSEKKSCSSS	PTQSEISTSL	PPDRQRRKRE	LRTFSFSDDE	NKPPSPKEIR
790	800	810	820	830	840
IEVAERLHLD	SNPLKWSVAD	VVRFIRSTDC	APLARIFLDQ	EIDGQALLLL	TLPTVQECMD
850	860
LKLGPAIKLC	HHIERIKFAF	YEQFAN