AiPD: Autoinhibited Protein Database

Q9BVI0

Gene name	PHF20 (C20orf104, GLEA2, HCA58, NZF, TZP)
Protein name	PHD finger protein 20
Names	Glioma-expressed antigen 2, Hepatocellular carcinoma-associated antigen 58, Novel zinc finger protein, Transcription factor TZP
Species	Homo sapiens (Human)
KEGG Pathway	hsa:51230
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

120-194 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

120-194 (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

8 structures for Q9BVI0

Entry ID	Method	Resolution	Chain	Position	Source
2LDM	NMR	-	A	84-147	PDB
3P8D	X-ray	200 A	A/B	84-147	PDB
3Q1J	X-ray	235 A	A	4-69	PDB
3QII	X-ray	230 A	A	83-150	PDB
3SD4	X-ray	193 A	A/B	4-69	PDB
5TAB	X-ray	125 A	A	651-698	PDB
5TBN	NMR	-	A	646-699	PDB
AF-Q9BVI0-F1	Predicted				AlphaFoldDB

642 variants for Q9BVI0

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs200722349 CA314163755	4	H>Q		No	ClinGen 1000Genomes TOPMed
TCGA novel	6	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9838026 rs778378425	7	N>H		No	ClinGen ExAC gnomAD
CA314163757 rs989066814	9	R>*		No	ClinGen Ensembl
CA408771132 rs1302616679	13	F>L		No	ClinGen gnomAD
rs1454947466 CA408771151	14	E>Q		No	ClinGen gnomAD
CA314163768 rs892332128	15	V>A		No	ClinGen TOPMed
rs771532032 CA9838028	15	V>L		No	ClinGen ExAC gnomAD
rs1569126031 CA408771200	16	G>A		No	ClinGen Ensembl
CA408771188 rs1316783410	16	G>R		No	ClinGen TOPMed
rs779413542 CA9838029	17	A>T		No	ClinGen ExAC TOPMed gnomAD
CA408771295 rs1309161447	22	R>Q		No	ClinGen gnomAD
TCGA novel	22	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746538790 CA9838030	24	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9838031 rs768125992	24	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1190138458 CA408785407	29	Y>H		No	ClinGen gnomAD
CA408785426 rs1205100712	30	P>L		No	ClinGen TOPMed
rs1249915230 CA408785424	30	P>S		No	ClinGen TOPMed
CA314148586 rs375907176	32	H>D		No	ClinGen ESP TOPMed gnomAD
CA408785446 rs375907176	32	H>Y		No	ClinGen ESP TOPMed gnomAD
rs754308147 CA9838047	33	I>V		No	ClinGen ExAC
rs1568638920 CA408785494	35	D>A		No	ClinGen Ensembl
rs999737782 CA314148604	36	I>T		No	ClinGen Ensembl
rs377513726 CA9838048	38	Y>H		No	ClinGen ESP ExAC gnomAD
CA9838050 rs200171650	39	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA9838051 rs768233756 CA314148646	43	V>L		No	ClinGen ExAC TOPMed gnomAD
rs780728312 CA9838052	45	I>V		No	ClinGen ExAC
rs759370751 CA314148657	49	R>H		No	ClinGen TOPMed gnomAD
rs769504764 CA9838054	50	W>R		No	ClinGen ExAC TOPMed gnomAD
rs1307138088 CA408785751	53	R>C		No	ClinGen TOPMed
rs772978047 CA9838055	53	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA408785777 rs1435073788	54	Y>F		No	ClinGen TOPMed
TCGA novel	63	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9838056 rs762820870	64	Y>C		No	ClinGen ExAC gnomAD
CA408786130 rs1349635784	65	L>V		No	ClinGen gnomAD
CA408786165 TCGA novel rs1600812887	66	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
rs1377256693 CA408786177	66	R>L		No	ClinGen TOPMed
rs774380857 CA9838058	76	E>K		No	ClinGen ExAC gnomAD
CA408786475 rs1447280036	78	L>F		No	ClinGen gnomAD
rs1221089218 CA408786479	79	H>N		No	ClinGen gnomAD
CA408786493 rs1266211382	79	H>R		No	ClinGen TOPMed gnomAD
CA9838059 rs759488061	83	G>R		No	ClinGen ExAC TOPMed gnomAD
rs370096927 CA9838060	84	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs945682918 CA314148692	85	S>F		No	ClinGen TOPMed
CA408787645 rs1323521788	86	E>D		No	ClinGen gnomAD
rs752137046 CA9838100	101	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9838101 rs755656443	101	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs748952706 CA9838103	104	P>L		No	ClinGen ExAC TOPMed gnomAD
CA408788086 rs1600819524	106	K>E		No	ClinGen Ensembl
CA9838104 rs756903137	106	K>R		No	ClinGen ExAC TOPMed gnomAD
CA9838105 rs201184692	107	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs201184692 CA9838106	107	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs772065808 CA9838107	108	T>I		No	ClinGen ExAC gnomAD
TCGA novel	113	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750076672 CA9838145	117	T>I		No	ClinGen ExAC gnomAD
TCGA novel	121	Y>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408789819 rs1191851864	126	Q>H		No	ClinGen gnomAD
CA9838146 rs200515202	129	K>R		No	ClinGen ExAC gnomAD
rs1205801592 COSM1220363 CA408789880	130	H>R	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs371342493 CA314160712	131	I>T		No	ClinGen ESP gnomAD
CA408789917 rs1184321392	132	H>R		No	ClinGen gnomAD
TCGA novel	135	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408789970 rs1478460238	138	K>R		No	ClinGen gnomAD
CA9838149 rs200034859	139	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs200034859 CA314160726	139	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA9838164 rs766144678	141	N>S		No	ClinGen ExAC TOPMed gnomAD
CA408791314 rs1465523906	147	R>S		No	ClinGen TOPMed
CA408791358 rs1481591229	153	H>Q		No	ClinGen gnomAD
rs1173595802 CA408791368	155	S>G		No	ClinGen gnomAD
TCGA novel	155	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs866166341 CA314163744	155	S>N		No	ClinGen Ensembl
rs6119662 CA314163751	160	P>L		No	ClinGen gnomAD
TCGA novel	161	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408791421 rs370884660	163	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA9838165 rs370884660	163	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA408791423 rs1399226340	163	R>Q		No	ClinGen gnomAD
rs1161582192 CA408791453	167	K>I		No	ClinGen gnomAD
CA9838166 rs754763215	169	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA9838168 rs752558724	172	A>E		No	ClinGen ExAC gnomAD
CA9838167 rs767442172	172	A>T		No	ClinGen ExAC gnomAD
CA9838171 rs373974765	176	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs201258218 CA9838173	181	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA9838174 rs746179704	182	D>Y		No	ClinGen ExAC gnomAD
rs544071911 CA9838175	183	K>*		No	ClinGen 1000Genomes ExAC gnomAD
CA9838177 rs747465598	184	P>S		No	ClinGen ExAC TOPMed gnomAD
CA314163853 rs747465598	184	P>T		No	ClinGen ExAC TOPMed gnomAD
rs377563371 CA9838181	186	K>E		No	ClinGen ESP ExAC TOPMed
rs774172000 CA408791617	191	P>H		No	ClinGen ExAC TOPMed gnomAD
CA9838182 rs774172000	191	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	191	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs931628551 CA314163878	193	Q>H		No	ClinGen Ensembl
rs6119663 CA314163882	194	P>L		No	ClinGen Ensembl
CA408791645 rs1201220840	195	D>E		No	ClinGen TOPMed
rs752606610 CA9838185	198	G>E		No	ClinGen ExAC TOPMed gnomAD
CA314163890 rs376078467	198	G>R		No	ClinGen gnomAD
rs755997270 CA9838186	199	K>N		No	ClinGen ExAC gnomAD
CA314163893 rs974686146	201	I>V		No	ClinGen TOPMed gnomAD
CA408791691 rs1324156172	202	C>S		No	ClinGen gnomAD
CA408791690 rs1324156172	202	C>Y		No	ClinGen gnomAD
rs1376020156 CA408791710	203	S>C		No	ClinGen TOPMed
TCGA novel	204	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408791746 rs1287810590	205	K>N		No	ClinGen gnomAD
CA9838187 rs764036456	208	V>A		No	ClinGen ExAC gnomAD
rs1307439570 CA408791787	208	V>L		No	ClinGen TOPMed
CA9838189 rs757347871	211	K>R		No	ClinGen ExAC gnomAD
rs921858026 CA314163917	212	S>N		No	ClinGen TOPMed gnomAD
CA314163922 rs201409614	213	L>P		No	ClinGen 1000Genomes
rs1289017498 CA408791894	214	P>R		No	ClinGen gnomAD
rs779012148 CA9838190	215	K>R		No	ClinGen ExAC gnomAD
rs747414056 CA9838194	221	K>E		No	ClinGen ExAC gnomAD
rs1464582012 CA408792040	221	K>N		No	ClinGen TOPMed
rs1358851272 CA408792102	225	S>A		No	ClinGen TOPMed
rs185182541 CA9838197	226	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1402628450 CA408792143	227	N>S		No	ClinGen TOPMed
rs770545172 CA9838198	229	R>I		No	ClinGen ExAC gnomAD
TCGA novel	230	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	230	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA314163953 rs1048888503	231	Y>C		No	ClinGen TOPMed gnomAD
rs907583626 CA314163958	232	S>A		No	ClinGen TOPMed
CA314163964 rs1004721328	234	D>N		No	ClinGen Ensembl
CA314163969 rs1014731601	235	A>D		No	ClinGen TOPMed gnomAD
CA408792333 rs1312502087	238	D>N		No	ClinGen gnomAD
rs1260756330 CA408792358	239	K>T		No	ClinGen TOPMed
rs6119664 CA314163976	241	P>L		No	ClinGen Ensembl
CA9838200 rs759109502	241	P>S		No	ClinGen ExAC gnomAD
CA9838201 rs767262328	242	E>D		No	ClinGen ExAC gnomAD
CA314164006 CA9838202 rs775094069	243	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1338086929 CA408792437	243	N>Y		No	ClinGen gnomAD
CA9838203 rs373676967	244	D>G		No	ClinGen 1000Genomes ESP ExAC gnomAD
COSM1751422 CA9838204 rs763967095	247	K>N	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
TCGA novel	248	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761776074 CA9838207	251	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs750572738 CA9838209	251	E>D		No	ClinGen ExAC gnomAD
rs761776074 CA9838206	251	E>K		No	ClinGen ExAC gnomAD
CA9838210 CA408792679 rs758491078	252	N>K		No	ClinGen ExAC TOPMed
rs781724302 CA9838214	255	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA408792767 rs1394749451	256	P>L		No	ClinGen TOPMed
CA408792765 rs1394749451	256	P>R		No	ClinGen TOPMed
CA9838216 rs770492032	258	R>G		No	ClinGen ExAC gnomAD
TCGA novel	260	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9838218 rs745400759	266	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1325179500 CA408792996	267	A>V		No	ClinGen gnomAD
rs1568669980 CA408793006	268	P>S		No	ClinGen Ensembl
CA9838219 rs771562037	269	T>I		No	ClinGen ExAC gnomAD
CA408793751 rs1238548896	270	A>G		No	ClinGen gnomAD
rs1383940548 CA408793762	272	D>G		No	ClinGen TOPMed
rs1355871448 CA408793785	275	S>F		No	ClinGen TOPMed gnomAD
rs1490176795 CA408793819	280	P>L		No	ClinGen gnomAD
rs140150934 CA9838240	280	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA314166926 rs1038516584	281	I>V		No	ClinGen TOPMed
CA314166930 rs753355315	282	T>R		No	ClinGen Ensembl
rs746657834 CA9838243	286	R>T		No	ClinGen ExAC gnomAD
CA9838244 rs768353392	287	R>K		No	ClinGen ExAC gnomAD
TCGA novel	291	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs370434795 CA408793908	294	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9838247 rs769679425	294	C>W		No	ClinGen ExAC TOPMed gnomAD
rs370434795 CA9838246	294	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	295	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408793929 rs1456887132 RCV000736218	297	P>L		No	ClinGen ClinVar dbSNP gnomAD
rs773224660 CA9838248	297	P>S		No	ClinGen ExAC TOPMed gnomAD
rs762848107 CA9838250 COSM1565814	300	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs191991335 CA9838251	300	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1379479411 COSM78298 CA408793956	302	R>Q	ovary [Cosmic]	No	ClinGen cosmic curated gnomAD
CA9838252 rs774363401	302	R>W		No	ClinGen ExAC TOPMed gnomAD
CA408793978 rs1357394966	305	K>R		No	ClinGen gnomAD
CA408793996 rs1165922288	308	S>P		No	ClinGen gnomAD
CA408794183 rs1359507912	309	Q>H		No	ClinGen TOPMed
rs1316762773 CA408794242	314	N>S		No	ClinGen TOPMed
rs1458945046 CA408794267	316	S>L		No	ClinGen gnomAD
CA408794268 rs1458945046	316	S>W		No	ClinGen gnomAD
CA9838269 rs749245720	324	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1313093715 CA408794358	324	S>P		No	ClinGen gnomAD
rs368610578 CA9838270	327	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA408794393 rs1183160549	327	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA9838271 rs774518065	329	S>F		No	ClinGen ExAC gnomAD
CA408794418 rs1428492770	330	R>K		No	ClinGen gnomAD
rs1169189569 CA408794428	331	L>V		No	ClinGen gnomAD
CA408794440 rs1426176826	332	S>F		No	ClinGen gnomAD
CA408794447 rs1431843142	333	T>A		No	ClinGen TOPMed
CA9838273 rs545669876	334	N>I		No	ClinGen 1000Genomes ExAC
CA314167603 rs1048745073	335	G>R		No	ClinGen TOPMed gnomAD
rs142799301 CA9838274	337	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	338	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408794515 rs1379781480	339	I>M		No	ClinGen gnomAD
rs761014867 CA9838275	346	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1319662069 CA408794636	350	V>A		No	ClinGen gnomAD
CA408794643 rs1277469074	351	D>V		No	ClinGen gnomAD
CA408794642 rs1219068404	351	D>Y		No	ClinGen gnomAD
rs368676517 CA9838277	352	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA408794656 rs368676517	352	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1485276210 CA408794666	353	D>G		No	ClinGen gnomAD
CA408794662 rs1237502600	353	D>H		No	ClinGen gnomAD
CA9838279 rs765665159	356	Q>H		No	ClinGen ExAC gnomAD
CA314167626 rs1004122337	356	Q>K		No	ClinGen TOPMed
CA408794711 rs1476248895	357	D>V		No	ClinGen TOPMed
rs151029211 CA9838280 COSM1411472	358	T>M	large_intestine Variant assessed as Somatic; 0.0002776 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA9838282 rs780730285	361	S>C		No	ClinGen ExAC gnomAD
rs747769162 CA9838283	362	T>I		No	ClinGen ExAC gnomAD
rs1293303719 CA408794745	363	K>E		No	ClinGen TOPMed
TCGA novel	364	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408794774 rs1344648379	367	E>K		No	ClinGen gnomAD
rs755790566 CA9838284	368	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1438365742 CA408794797	368	G>V		No	ClinGen gnomAD
CA9838295 rs762108010	370	L>F		No	ClinGen ExAC gnomAD
rs999547381 CA314167878	371	K>M		No	ClinGen TOPMed gnomAD
CA408794820 rs1237285050	372	S>P		No	ClinGen TOPMed gnomAD
CA408794829 rs1407985737	373	A>G		No	ClinGen TOPMed
rs765736054 CA9838296	374	L>S		No	ClinGen ExAC gnomAD
rs1600854124 CA408794839	375	E>*		No	ClinGen Ensembl
CA408794838 rs1600854124	375	E>Q		No	ClinGen Ensembl
rs750898682 CA9838297	379	V>F		No	ClinGen ExAC gnomAD
rs763499521 CA9838298	380	S>A		No	ClinGen ExAC gnomAD
rs1424931557 CA408794876	381	S>P		No	ClinGen gnomAD
rs940529768 CA314167896	384	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	384	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408794898 rs1465473011	385	C>R		No	ClinGen TOPMed
rs1237762650 CA408794901	385	C>S		No	ClinGen gnomAD
CA408794904 rs1438114520	385	C>W		No	ClinGen gnomAD
CA9838299 rs151316913	386	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9838301 rs755722678	389	G>R		No	ClinGen ExAC gnomAD
CA408794934 rs777301538	390	D>G		No	ClinGen ExAC gnomAD
CA314167911 rs1036855912	390	D>H		No	ClinGen TOPMed gnomAD
CA9838302 rs777301538	390	D>V	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs757029790 CA9838304	393	G>E		No	ClinGen ExAC gnomAD
rs1399073913 CA408794951 CA408794949	393	G>R		No	ClinGen gnomAD
CA9838306 rs745791223	394	A>P		No	ClinGen ExAC gnomAD
CA9838307 rs149794718	395	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA408794959 rs149794718	395	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9838309 rs747075243	396	G>C		No	ClinGen ExAC gnomAD
CA408794978 rs1568683359	398	E>*		No	ClinGen Ensembl
rs1257769832 CA408794998	400	N>K		No	ClinGen gnomAD
CA408795009 rs1199028815	402	P>S		No	ClinGen TOPMed
rs1239031092 CA408795022	404	M>T		No	ClinGen TOPMed gnomAD
rs200469725 CA9838311	404	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA9838313 rs770122276	408	T>M		No	ClinGen ExAC TOPMed gnomAD
rs905183490 CA314167949	409	M>I		No	ClinGen Ensembl
CA9838314 rs201020039	409	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763444388 CA9838315	412	E>K		No	ClinGen ExAC gnomAD
COSM3693456 CA9838318 rs369867507	413	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs140335933 CA9838317	413	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	414	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9838323 rs778850470	416	P>T		No	ClinGen ExAC gnomAD
CA9838324 rs750250426	417	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1278125791 CA408795112	418	V>G		No	ClinGen gnomAD
rs555012361 CA314168014	423	I>T		No	ClinGen gnomAD
COSM170985 CA9838326 rs780164709	424	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA408795172 rs1270203620	427	E>G		No	ClinGen gnomAD
rs764998026 CA9838340	429	T>A		No	ClinGen ExAC TOPMed
rs550441401 CA9838341	431	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1330908618 CA408784171	432	F>S		No	ClinGen gnomAD
CA9838342 rs758300202	433	K>M		No	ClinGen ExAC gnomAD
CA9838343 rs758300202	433	K>R		No	ClinGen ExAC gnomAD
CA408784181 rs1180566858	434	K>E		No	ClinGen TOPMed
rs1257992307 CA408784190	435	T>A		No	ClinGen gnomAD
CA408784191 rs1483212657	435	T>K		No	ClinGen TOPMed
rs751429722 CA9838344	439	G>R		No	ClinGen ExAC gnomAD
rs190470977 CA9838345	439	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA408784235 rs1038497612	442	N>D		No	ClinGen TOPMed gnomAD
CA314178216 rs1038497612	442	N>Y		No	ClinGen TOPMed gnomAD
rs1310677388 CA408784243	443	A>T		No	ClinGen TOPMed
CA9838349 rs777991726	443	A>V		No	ClinGen ExAC gnomAD
rs898956918 CA314178222	445	A>G		No	ClinGen Ensembl
CA9838351 rs374084712	446	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs145409038 CA9838352	447	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1290359743 CA408784269	448	L>I		No	ClinGen TOPMed
rs746361852 CA9838353	449	D>A		No	ClinGen ExAC gnomAD
CA9838354 rs772641348	450	H>R		No	ClinGen ExAC gnomAD
rs146518162 CA9838355	452	F>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1434009997 CA408784364	457	V>G		No	ClinGen gnomAD
CA9838356 rs761432695	460	L>V		No	ClinGen ExAC gnomAD
CA408784402 rs1165184912	462	F>L		No	ClinGen TOPMed
rs756788600 CA314178256	464	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1600900983 TCGA novel CA408784413	464	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
rs1462707480 CA408784425	466	A>P		No	ClinGen TOPMed
rs1366136334 CA408784429	466	A>V		No	ClinGen TOPMed
rs1239485497 CA408784436	467	K>N		No	ClinGen gnomAD
rs111786245 CA314178268	470	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA408784461 rs1307109193	471	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs764945096 CA9838357	473	M>V		No	ClinGen ExAC gnomAD
rs1178571708 CA408784493	475	Y>C		No	ClinGen gnomAD
CA314178278 rs141082953	477	H>P		No	ClinGen ESP
CA408784515 rs1218614718	478	G>E		No	ClinGen gnomAD
CA9838358 rs772970209	479	M>I		No	ClinGen ExAC gnomAD
rs561033073 CA314178281	479	M>T		No	ClinGen TOPMed
TCGA novel	480	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA314178294 rs1003141099	481	K>E		No	ClinGen TOPMed gnomAD
CA408784541 rs1268985420	482	S>A		No	ClinGen gnomAD
CA408784545 rs1188840301	482	S>L		No	ClinGen TOPMed
CA408784547 rs766074119	483	L>V		No	ClinGen ExAC gnomAD
CA9838361 rs751437496	484	E>D		No	ClinGen ExAC gnomAD
rs1160399840 CA408784583	488	S>N		No	ClinGen gnomAD
rs553915565 CA9838363	489	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9838364 rs553915565	489	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9838362 rs754804189	489	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	490	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs35658867 CA9838366	490	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	492	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754032798 CA9838367	492	R>T		No	ClinGen ExAC TOPMed gnomAD
CA9838369 rs200376888	493	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9838370 rs576290949	494	V>A		No	ClinGen 1000Genomes ExAC gnomAD
CA408784617 rs1308201956	494	V>I		No	ClinGen TOPMed
CA408784636 rs1297636007	497	R>G		No	ClinGen TOPMed
CA408784640 rs1226169944	497	R>K		No	ClinGen TOPMed
TCGA novel	501	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1267930980 CA408784680	503	D>E		No	ClinGen gnomAD
rs1321088009 CA408784673	503	D>N		No	ClinGen gnomAD
CA314178316 rs968159760	504	K>R		No	ClinGen Ensembl
CA408784714 rs1219274142	507	Q>E		No	ClinGen gnomAD
CA314178324 rs921290276	507	Q>R		No	ClinGen Ensembl
CA408784726 rs1266938951	508	E>Q		No	ClinGen TOPMed gnomAD
CA408784794 rs1171016018	514	R>Q		No	ClinGen TOPMed
CA408784792 rs1197546194	514	R>W		No	ClinGen TOPMed gnomAD
CA9838374 rs558767765	515	V>A		No	ClinGen 1000Genomes ExAC gnomAD
CA9838384 rs764141350	522	T>R		No	ClinGen ExAC
rs1354849303 CA408786854	523	K>R		No	ClinGen Ensembl
rs995759848 CA314184514	525	K>E		No	ClinGen Ensembl
rs753923235 CA9838385	526	E>K		No	ClinGen ExAC gnomAD
rs757367903 CA9838386 COSM1026309	527	K>N	endometrium Variant assessed as Somatic; 0.0001416 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1308937561 CA408786951	530	E>D		No	ClinGen gnomAD
CA314184529 rs201394960	532	K>R		No	ClinGen 1000Genomes
CA408786999 rs1204801020	534	K>E		No	ClinGen gnomAD
CA9838387 rs779220829	535	E>V		No	ClinGen ExAC TOPMed gnomAD
CA408787036 rs1481990468	536	F>S		No	ClinGen gnomAD
CA9838388 rs750715985 CA408787046	537	V>L		No	ClinGen ExAC TOPMed gnomAD
CA408787044 rs750715985	537	V>M		No	ClinGen ExAC TOPMed gnomAD
rs758759884 CA9838389	538	R>K		No	ClinGen ExAC gnomAD
CA408787065 rs758759884	538	R>T		No	ClinGen ExAC gnomAD
CA408787080 rs1192002262	539	V>L		No	ClinGen gnomAD
CA408787193 rs1410699182	545	K>R		No	ClinGen gnomAD
rs769354839 CA9838393	548	K>E		No	ClinGen ExAC gnomAD
rs1300291038 CA408787316	551	T>I		No	ClinGen TOPMed
rs953634596 CA314184548	553	P>R		No	ClinGen TOPMed gnomAD
CA408787456 rs1431274763	555	C>R		No	ClinGen gnomAD
CA9838412 rs751976044	556	P>L		No	ClinGen ExAC gnomAD
rs755484534 CA9838413	558	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1235822048 CA408787530	559	E>K		No	ClinGen gnomAD
rs963510290 CA314184832	562	S>R		No	ClinGen TOPMed gnomAD
CA408787584 rs1406753049	564	T>A		No	ClinGen TOPMed
rs748706262 CA9838415	565	S>F		No	ClinGen ExAC gnomAD
rs1238524880 CA408787602	567	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1378793079 CA408787616	568	P>L		No	ClinGen Ensembl
CA314184844 rs747469225	570	P>L		No	ClinGen TOPMed gnomAD
rs1483942795 CA408787649	572	K>Q		No	ClinGen TOPMed
rs375534256 CA9838416	575	A>T		No	ClinGen ESP ExAC gnomAD
CA9838418 rs745516781	583	H>Y		No	ClinGen ExAC gnomAD
rs1470035240 CA408787838	586	G>E		No	ClinGen TOPMed gnomAD
rs1235244321 CA408787832	586	G>R		No	ClinGen TOPMed
CA408787868 rs1251149089	588	H>Q		No	ClinGen gnomAD
CA9838420 rs775211499	588	H>R		No	ClinGen ExAC TOPMed gnomAD
rs199972817 CA314184869	589	M>L		No	ClinGen TOPMed gnomAD
CA9838421 rs866338320	590	S>N		No	ClinGen Ensembl
CA9838424 rs527952040	591	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs746833491 CA9838423	591	P>S		No	ClinGen ExAC TOPMed gnomAD
CA314184885 rs911567768	592	Q>*		No	ClinGen Ensembl
CA9838427 rs548981418	594	H>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9838426 rs548981418	594	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9838428 rs773232325	599	G>R		No	ClinGen ExAC TOPMed gnomAD
rs763169793 CA9838429	602	K>R		No	ClinGen ExAC gnomAD
CA408788106 rs766721228	604	K>E		No	ClinGen ExAC TOPMed gnomAD
rs766721228 CA9838430	604	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs17431878 CA9838431 VAR_051600	605	V>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA408788146 rs1240228187	606	K>N		No	ClinGen gnomAD
rs755423121 CA9838432	607	A>T		No	ClinGen ExAC gnomAD
rs537943692 CA408788164	608	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA408788588 rs1033152132	609	E>A		No	ClinGen TOPMed
rs1033152132 CA314186382	609	E>V		No	ClinGen TOPMed
CA9838458 rs79232141	611	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA408788602 rs1344384108	611	D>G		No	ClinGen gnomAD
CA314186386 rs372485588	614	S>N		No	ClinGen ESP
rs754693618 CA9838459	615	E>D		No	ClinGen ExAC gnomAD
CA9838460 rs780974892	617	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9838461 rs747910681	620	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1373356186 CA408788693	624	S>N		No	ClinGen gnomAD
rs777603376 CA9838463	625	D>G		No	ClinGen ExAC gnomAD
rs139288054 CA9838464	626	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs774628465 CA9838466	629	G>C		No	ClinGen ExAC gnomAD
rs559318670 CA314186403	631	D>G		No	ClinGen 1000Genomes TOPMed
CA408788745 rs559318670	631	D>V		No	ClinGen 1000Genomes TOPMed
CA314186431 rs964082935	635	T>S		No	ClinGen Ensembl
rs760979969 CA408788779	636	T>I		No	ClinGen ExAC gnomAD
rs760979969 CA9838471	636	T>N		No	ClinGen ExAC gnomAD
rs775878917 CA9838470	636	T>P		No	ClinGen ExAC gnomAD
CA9838472 rs764561499	637	N>S		No	ClinGen ExAC gnomAD
CA314186436 rs1015660628	640	E>K		No	ClinGen TOPMed
CA9838474 rs762366925	642	L>P		No	ClinGen ExAC gnomAD
rs1227559910 CA408788831	643	D>E		No	ClinGen TOPMed
rs765870716 CA9838475	643	D>G		No	ClinGen ExAC
CA314186440 rs970813595	643	D>H		No	ClinGen TOPMed
rs765870716 CA408788830	643	D>V		No	ClinGen ExAC
CA9838476 rs370502808	644	G>E		No	ClinGen ESP ExAC gnomAD
CA408788842 rs1365405237	645	D>G		No	ClinGen TOPMed
CA9838477 rs754568531	646	D>E		No	ClinGen ExAC gnomAD
rs780729439 CA9838478	647	R>C		No	ClinGen ExAC TOPMed gnomAD
CA408788861 rs1450634471	648	Y>C		No	ClinGen TOPMed gnomAD
CA314186447 rs372027298	649	D>A		No	ClinGen Ensembl
rs755833178 CA9838480	651	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1458684063 CA408788888	652	V>M		No	ClinGen Ensembl
rs749222406 CA9838482	654	R>C		No	ClinGen ExAC gnomAD
rs189551926 CA9838483	658	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1415546496 CA408788944	660	Q>R		No	ClinGen gnomAD
rs1458905135 CA408788949	661	E>K		No	ClinGen TOPMed
CA9838485 rs764992971	661	E>V		No	ClinGen ExAC TOPMed gnomAD
CA9838487 rs775546304	662	E>G		No	ClinGen ExAC gnomAD
CA408788972 rs1460528871	664	D>Y		No	ClinGen gnomAD
CA408789661 rs1206423434	679	V>I		No	ClinGen TOPMed
rs1481344505 CA408789684	681	M>V		No	ClinGen TOPMed gnomAD
CA9838509 rs575697146	683	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA408789745 rs1474431084	686	E>G		No	ClinGen gnomAD
rs773675742 CA9838510	687	N>S		No	ClinGen ExAC gnomAD
rs368470074 CA314191573	690	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs368470074 CA9838512	690	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1600949785 CA408789827	693	T>N		No	ClinGen Ensembl
TCGA novel	694	C>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1168644707 CA408789845	695	Y>H		No	ClinGen gnomAD
CA408789860 rs1462605213	696	V>I		No	ClinGen gnomAD
CA408789889 rs1345490137	698	Q>H		No	ClinGen TOPMed
CA314191575 rs569104103	698	Q>K		No	ClinGen Ensembl
rs996159261 CA314191577	700	P>L		No	ClinGen Ensembl
TCGA novel	702	G>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748407748 CA9838529	702	G>D		No	ClinGen ExAC gnomAD
CA408790019 rs1191997921	704	R>S		No	ClinGen TOPMed
CA408790022 rs1451769353	705	P>A		No	ClinGen TOPMed
rs374815117 CA9838530	707	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA408790033 rs374815117	707	F>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA314193315 rs200044840	710	W>R		No	ClinGen Ensembl
rs1286722425 CA408790071	712	D>N		No	ClinGen gnomAD
rs1214814923 CA408790115	715	W>G		No	ClinGen gnomAD
rs749753975 CA9838532	717	S>G		No	ClinGen ExAC gnomAD
rs1237084836 CA408790156	718	R>K		No	ClinGen gnomAD
CA9838533 rs367835554	720	H>L		No	ClinGen ESP ExAC gnomAD
CA408790189 rs1273089291	721	M>V		No	ClinGen TOPMed
rs1446754618 CA408790209	722	H>N		No	ClinGen gnomAD
rs774801547 CA9838535	722	H>P		No	ClinGen ExAC gnomAD
rs774801547 CA9838534	722	H>R		No	ClinGen ExAC gnomAD
CA9838536 rs768325239 COSM1194212	725	A>E	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs768325239 CA408790257	725	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1600956006 CA408790294	728	E>D		No	ClinGen Ensembl
TCGA novel	728	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9838537 rs776402916	729	E>K		No	ClinGen ExAC gnomAD
rs761620013 CA9838538	731	Y>S		No	ClinGen ExAC
rs1474808192 CA408790352	732	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA408790393 rs1331860252	735	N>S		No	ClinGen TOPMed
CA408790431 rs1600956061	738	K>R		No	ClinGen Ensembl
CA408790442 rs1251173837	739	I>F		No	ClinGen gnomAD
CA314193337 rs1042503462	739	I>N		No	ClinGen Ensembl
rs34576397 CA9838540	740	V>M		No	ClinGen ExAC TOPMed gnomAD
CA408790464 rs1395652902	741	A>S		No	ClinGen gnomAD
CA408790477 rs1399886874	742	T>S		No	ClinGen gnomAD
CA314193344 rs945991190	746	L>R		No	ClinGen TOPMed
CA314193366 rs936715850	748	D>N		No	ClinGen Ensembl
rs1053790062 CA314193371	749	V>A		No	ClinGen TOPMed
rs1346752698 CA408790563	749	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA9838542 rs376078655	753	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1167060689 CA408790631	754	E>A		No	ClinGen TOPMed
CA9838543 rs751554371	755	V>I		No	ClinGen ExAC gnomAD
CA408790670 rs1350661018	757	H>Q		No	ClinGen gnomAD
CA9838546 rs752903135	757	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1378941092 CA408790672	758	G>S		No	ClinGen TOPMed
CA9838547 rs756394820	758	G>V		No	ClinGen ExAC gnomAD
CA9838548 rs543499886	763	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1317928982 CA408790738	763	M>L		No	ClinGen gnomAD
rs1568787217 CA408790749	763	M>T		No	ClinGen Ensembl
rs749672749 CA408790765	764	S>I		No	ClinGen ExAC gnomAD
rs749672749 CA9838549	764	S>N		No	ClinGen ExAC gnomAD
CA314193410 rs942511936	764	S>R		No	ClinGen TOPMed gnomAD
rs766129140 CA9838561	768	S>N		No	ClinGen ExAC TOPMed gnomAD
rs551324165 CA314197019	768	S>R		No	ClinGen 1000Genomes
rs779992217 CA9838563	769	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs566632350 CA9838562	769	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1234572708 CA408791725	770	E>Q		No	ClinGen gnomAD
CA9838566 rs756268168	775	P>L		No	ClinGen ExAC TOPMed gnomAD
rs752778505 CA9838565	775	P>S		No	ClinGen ExAC gnomAD
CA408791790 rs778075118	776	L>M		No	ClinGen ExAC gnomAD
CA408791798 rs1165230929	777	W>R		No	ClinGen gnomAD
rs754109362 CA9838568	780	P>S		No	ClinGen ExAC gnomAD
rs1407758360 CA408791868	782	K>R		No	ClinGen gnomAD
CA314197049 rs267605910	783	Q>*		No	ClinGen Ensembl
rs200731940 CA9838570	784	H>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs555729193 CA314197051	785	S>A		No	ClinGen 1000Genomes TOPMed gnomAD
rs574165917 CA314197058	785	S>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs555729193 CA314197054	785	S>P		No	ClinGen 1000Genomes TOPMed gnomAD
CA408791907 rs1357797541	786	G>E		No	ClinGen gnomAD
CA314197067 rs1054038808	787	E>K		No	ClinGen gnomAD
rs746385669 CA9838571	788	G>E		No	ClinGen ExAC TOPMed gnomAD
CA408791958 rs1216473184	791	H>R		No	ClinGen gnomAD
CA408791979 rs1380027472	793	R>G		No	ClinGen TOPMed
CA408791981 rs1165985681	793	R>K		No	ClinGen TOPMed
CA408792003 rs1411985150	795	I>F		No	ClinGen TOPMed
CA9838572 rs185047544	796	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9838575 rs556793405	801	R>G		No	ClinGen 1000Genomes ExAC gnomAD
RCV000890413 rs36058204 CA9838576	801	R>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA314197092 rs867813237	802	S>N		No	ClinGen Ensembl
CA408792087 rs1187782220	803	K>Q		No	ClinGen gnomAD
rs1372184568 CA408792124	806	A>T		No	ClinGen gnomAD
CA408792132 rs1265437554	806	A>V		No	ClinGen TOPMed
CA9838578 rs770744773	809	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs748941374 CA9838577	809	Y>N		No	ClinGen ExAC TOPMed gnomAD
rs774081105 CA9838579	810	R>G		No	ClinGen ExAC TOPMed
CA9838580 rs759400800	811	T>A		No	ClinGen ExAC gnomAD
rs942879383 CA314197138	811	T>I		No	ClinGen Ensembl
CA408792192 rs1311619485	812	L>F		No	ClinGen gnomAD
CA408792190 rs1434604161	812	L>S		No	ClinGen gnomAD
CA9838581 rs767451753	813	N>S		No	ClinGen ExAC gnomAD
TCGA novel	814	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs553756514 CA9838583	814	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA9838584 rs764118124	815	A>G		No	ClinGen ExAC gnomAD
rs1324965556 CA408792218	815	A>T		No	ClinGen gnomAD
rs754080209 CA9838585	816	V>M		No	ClinGen ExAC gnomAD
rs765574236 CA9838587	822	L>V		No	ClinGen ExAC gnomAD
CA9838592 rs755630412	825	P>S		No	ClinGen ExAC TOPMed gnomAD
rs770493098 CA9838595	827	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9838593 rs371403889	827	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371403889 CA9838594	827	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1220362 CA9838597 rs745681312	828	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs372972203 CA9838598	828	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA314197188 rs778662802	829	S>P		No	ClinGen TOPMed
CA314197193 rs942439132	831	E>G		No	ClinGen TOPMed gnomAD
TCGA novel	834	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1348518006 CA408792499	835	I>V		No	ClinGen TOPMed
rs1384096002 CA408792520	836	T>S		No	ClinGen TOPMed gnomAD
CA408792558 rs1478290296	838	E>G		No	ClinGen TOPMed
CA9838601 rs144252568	845	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
COSM1411476 CA9838602 rs148716053	845	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs765401656 CA9838604	846	A>T		No	ClinGen ExAC gnomAD
CA408792696 rs1348309875	847	Y>C		No	ClinGen gnomAD
rs750777747 CA9838605	847	Y>N		No	ClinGen ExAC TOPMed gnomAD
rs1600971172 CA408792712	848	Y>S		No	ClinGen Ensembl
CA9838608 rs752096725	851	V>M		No	ClinGen ExAC TOPMed gnomAD
CA314197255 rs959240821	853	Q>H		No	ClinGen Ensembl
rs543227229 CA9838610	859	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	860	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756881455 CA408792918	861	G>D		No	ClinGen ExAC TOPMed gnomAD
CA9838612 rs756881455	861	G>V		No	ClinGen ExAC TOPMed gnomAD
CA408792938 rs1325679393	862	S>F		No	ClinGen TOPMed
CA408792924 rs1362373736	862	S>T		No	ClinGen TOPMed gnomAD
rs62211758 CA408792991	865	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771829423 RCV000736217 CA9838615	865	D>N		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1327936948 CA408792999	866	D>N		No	ClinGen TOPMed gnomAD
rs200315522 CA9838617	867	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9838619 rs776727741	869	N>K		No	ClinGen ExAC TOPMed gnomAD
CA408793047 rs1600971392	869	N>T		No	ClinGen Ensembl
CA9838620 rs375246652	870	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9838621 rs375246652	870	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	871	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773547250 CA9838622	872	H>Y		No	ClinGen ExAC gnomAD
CA9838623 rs763325956	873	E>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	875	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751975814 CA9838625	875	G>S		No	ClinGen ExAC TOPMed gnomAD
CA9838626 rs760028978	876	D>N		No	ClinGen ExAC gnomAD
rs760028978 CA408793126	876	D>Y		No	ClinGen ExAC gnomAD
rs1249084389 CA408793141	877	D>Y		No	ClinGen gnomAD
TCGA novel	879	L>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9838627 rs767931825	879	L>V		No	ClinGen ExAC gnomAD
rs1183422132 CA408793176	880	S>F		No	ClinGen gnomAD
rs181763739 CA9838628	881	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs369820748 CA9838630 COSM1026315	882	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA408793192 rs1350521745	882	R>H		No	ClinGen TOPMed gnomAD
rs369820748 CA408793187	882	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1461584475 CA408793236	886	P>L		No	ClinGen gnomAD
rs1303091960 CA408793287	891	R>K		No	ClinGen TOPMed
CA408793303 rs1394321007	892	S>R		No	ClinGen gnomAD
TCGA novel	893	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750060852 CA9838631	894	G>V		No	ClinGen ExAC gnomAD
rs1354617506 CA408793354	896	S>N		No	ClinGen gnomAD
CA408793365 rs1291183247	897	D>N		No	ClinGen gnomAD
rs1379591872 CA408793381	898	P>S		No	ClinGen TOPMed
rs1314489480 CA408793413	900	P>L		No	ClinGen gnomAD
CA9838632 rs758054043	900	P>S		No	ClinGen ExAC gnomAD
rs1391069154 CA408793422	901	G>A		No	ClinGen TOPMed
CA9838634 rs746807394	901	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs780962137 CA408793441	903	P>A		No	ClinGen ExAC TOPMed gnomAD
CA9838636 rs780962137	903	P>S		No	ClinGen ExAC TOPMed gnomAD
rs756123654 CA408782280	905	V>L		No	ClinGen ExAC TOPMed gnomAD
rs756123654 CA9838657	905	V>M		No	ClinGen ExAC TOPMed gnomAD
rs200681361 CA9838658	907	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA314188398 rs915144325	908	Y>H		No	ClinGen Ensembl
CA9838661 rs550281572	910	S>F		No	ClinGen 1000Genomes ExAC gnomAD
CA9838663 rs772308113	913	A>D		No	ClinGen ExAC gnomAD
CA314188402 rs183733610	913	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs183733610 CA9838662	913	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs183733610 CA314188406	913	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs77536106 CA9838664	914	L>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1303300907 CA408782342	915	P>S		No	ClinGen gnomAD
rs761032721 CA9838665	917	E>A		No	ClinGen ExAC gnomAD
CA408782368 rs764611258	919	P>A		No	ClinGen ExAC TOPMed gnomAD
CA9838666 rs764611258	919	P>S		No	ClinGen ExAC TOPMed gnomAD
CA408782367 rs764611258	919	P>T		No	ClinGen ExAC TOPMed gnomAD
CA408782374 rs1330351222	920	A>S		No	ClinGen TOPMed
CA9838668 rs547973892	921	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs369010616 CA9838667	921	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs765923545 CA9838669	923	L>M		No	ClinGen ExAC gnomAD
CA408782391 rs1465397386	923	L>P		No	ClinGen gnomAD
rs754727842 CA9838671	926	R>S		No	ClinGen ExAC gnomAD
CA408782412 rs1167860847	927	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA408782421 rs1452422907	928	G>E		No	ClinGen gnomAD
rs112071162 CA314188460	931	L>P		No	ClinGen Ensembl
CA9838672 rs767148539	934	S>F		No	ClinGen ExAC TOPMed gnomAD
CA9838673 rs752549027	936	H>D		No	ClinGen ExAC gnomAD
rs1204039468 CA408782480	937	Q>L		No	ClinGen TOPMed gnomAD
rs1253036215 CA408782484	938	W>G		No	ClinGen TOPMed gnomAD
CA408782502 rs1600974644	940	F>V		No	ClinGen Ensembl
CA9838674 rs756065557	941	N>D		No	ClinGen ExAC gnomAD
TCGA novel	945	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1457457196 CA408782532	945	H>Y		No	ClinGen gnomAD
rs777884475 CA9838675	946	V>M		No	ClinGen ExAC gnomAD
TCGA novel	952	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776268666 COSM1411477 CA9838677	954	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA408782596 rs1276013897	954	T>S		No	ClinGen gnomAD
CA408782601 rs1435998013	955	H>Y		No	ClinGen TOPMed
rs576918838 CA314188494	957	M>L		No	ClinGen Ensembl
CA314188507 rs868538841	959	S>F		No	ClinGen Ensembl
rs746071764 CA9838680	960	I>T		No	ClinGen ExAC gnomAD
rs779105603 CA9838679	960	I>V		No	ClinGen ExAC TOPMed
rs1330021566 CA408782647	961	E>D		No	ClinGen gnomAD
rs772355353 CA9838681	965	D>A		No	ClinGen ExAC gnomAD
rs772355353 CA408782674	965	D>G		No	ClinGen ExAC gnomAD
CA9838701 rs768999648	966	V>G		No	ClinGen ExAC TOPMed gnomAD
COSM4136854 rs781606814 CA9838702	973	Y>N	ovary [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA314192666 rs545390762	974	T>A		No	ClinGen 1000Genomes
rs1308793604 CA408783214	977	L>P		No	ClinGen gnomAD
rs748589731 CA9838703	979	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	980	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	980	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	981	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1333938732 CA408783283	982	P>S		No	ClinGen gnomAD
CA408783316 rs1337558611	984	A>V		No	ClinGen gnomAD
rs1226054799 CA408783319	985	R>G		No	ClinGen TOPMed gnomAD
rs1600985882 CA408783330	985	R>S		No	ClinGen Ensembl
CA9838709 rs760460775	987	P>L		No	ClinGen ExAC TOPMed gnomAD
CA9838708 rs775261403	987	P>S		No	ClinGen ExAC TOPMed gnomAD
CA9838712 rs531956765	991	H>R		No	ClinGen 1000Genomes ExAC gnomAD
CA9838713 rs145485767	992	C>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA408783459 rs1240958361	994	K>R		No	ClinGen TOPMed gnomAD
rs1191020678 CA408783546	1000	L>P		No	ClinGen gnomAD
rs758483395 CA9838715	1001	G>D		No	ClinGen ExAC gnomAD
rs1171120384 CA408783590	1003	V>G		No	ClinGen gnomAD
COSM1326773 CA9838717 rs751778845	1005	Q>H	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA9838719 rs148822034	1007	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9838720 rs748532245	1008	L>V		No	ClinGen ExAC gnomAD
rs375899439 CA9838721	1011	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1437456398 CA408783699	1011	S>P		No	ClinGen gnomAD
rs1568817335 CA408783711	1012	T>S		No	ClinGen Ensembl

No associated diseases with Q9BVI0

7 regional properties for Q9BVI0

Type	Name	Position	InterPro Accession
domain	Zinc finger, PHD-type	654 - 698	IPR001965
domain	Tudor domain	11 - 71	IPR002999-1
domain	Tudor domain	85 - 141	IPR002999-2
domain	Zinc finger C2H2-type	452 - 482	IPR013087
conserved_site	Zinc finger, PHD-type, conserved site	655 - 697	IPR019786
domain	PHD finger protein 20, AT hook	176 - 280	IPR022255
domain	DNA repair protein Crb2, Tudor domain	90 - 136	IPR041297

Functions

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

6 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.
histone acetyltransferase complex	A protein complex that possesses histone acetyltransferase activity.
MLL1 complex	A protein complex that can methylate lysine-4 of histone H3. MLL1/MLL is the catalytic methyltransferase subunit, and the complex also contains the core components ASH2L, HCFC1/HCF1 WDR5 and RBBP5.
NSL complex	A histone acetyltransferase complex that catalyzes the acetylation of a histone H4 lysine residues at several positions. In human, it contains the catalytic subunit MOF, NSL1/KIAA1267, NSL2/KANSL2, NSL3/KANSL3, MCRS1, PHF20, OGT1, WDR5 and HCF1.
nuclear membrane	Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.

2 GO annotations of molecular function

Name	Definition
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
metal ion binding	Binding to a metal ion.

9 GO annotations of biological process

Name	Definition
chromatin organization	The assembly or remodeling of chromatin composed of DNA complexed with histones, other associated proteins, and sometimes RNA.
histone acetylation	The modification of a histone by the addition of an acetyl group.
histone H4-K16 acetylation	The modification of histone H4 by the addition of an acetyl group to a lysine residue at position 16 of the histone.
histone H4-K5 acetylation	The modification of histone H4 by the addition of an acetyl group to a lysine residue at position 5 of the histone.
histone H4-K8 acetylation	The modification of histone H4 by the addition of an acetyl group to a lysine residue at position 8 of the histone.
positive regulation of DNA-templated transcription	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of histone H3-K4 methylation	Any process that activates or increases the frequency, rate or extent of the covalent addition of a methyl group to the lysine at position 4 of histone H3.
regulation of dosage compensation by inactivation of X chromosome	Any process that modulates the frequency, rate or extent of dosage compensation, by inactivation of X chromosome.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A2VE56	PHF20L1	PHD finger protein 20-like protein 1	Bos taurus (Bovine)	PR
Q8BLG0	Phf20	PHD finger protein 20	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MTKHPPNRRG	ISFEVGAQLE	ARDRLKNWYP	AHIEDIDYEE	GKVLIHFKRW	NHRYDEWFCW
70	80	90	100	110	120
DSPYLRPLEK	IQLRKEGLHE	EDGSSEFQIN	EQVLACWSDC	RFYPAKVTAV	NKDGTYTVKF
130	140	150	160	170	180
YDGVVQTVKH	IHVKAFSKDQ	NIVGNARPKE	TDHKSLSSSP	DKREKFKEQR	KATVNVKKDK
190	200	210	220	230	240
EDKPLKTEKR	PKQPDKEGKL	ICSEKGKVSE	KSLPKNEKED	KENISENDRE	YSGDAQVDKK
250	260	270	280	290	300
PENDIVKSPQ	ENLREPKRKR	GRPPSIAPTA	VDSNSQTLQP	ITLELRRRKI	SKGCEVPLKR
310	320	330	340	350	360
PRLDKNSSQE	KSKNYSENTD	KDLSRRRSSR	LSTNGTHEIL	DPDLVVSDLV	DTDPLQDTLS
370	380	390	400	410	420
STKESEEGQL	KSALEAGQVS	SALTCHSFGD	GSGAAGLELN	CPSMGENTMK	TEPTSPLVEL
430	440	450	460	470	480
QEISTVEVTN	TFKKTDDFGS	SNAPAVDLDH	KFRCKVVDCL	KFFRKAKLLH	YHMKYFHGME
490	500	510	520	530	540
KSLEPEESPG	KRHVQTRGPS	ASDKPSQETL	TRKRVSASSP	TTKDKEKNKE	KKFKEFVRVK
550	560	570	580	590	600
PKKKKKKKKK	TKPECPCSEE	ISDTSQEPSP	PKAFAVTRCG	SSHKPGVHMS	PQLHGPESGH
610	620	630	640	650	660
HKGKVKALEE	DNLSESSSES	FLWSDDEYGQ	DVDVTTNPDE	ELDGDDRYDF	EVVRCICEVQ
670	680	690	700	710	720
EENDFMIQCE	ECQCWQHGVC	MGLLEENVPE	KYTCYVCQDP	PGQRPGFKYW	YDKEWLSRGH
730	740	750	760	770	780
MHGLAFLEEN	YSHQNAKKIV	ATHQLLGDVQ	RVIEVLHGLQ	LKMSILQSRE	HPDLPLWCQP
790	800	810	820	830	840
WKQHSGEGRS	HFRNIPVTDT	RSKEEAPSYR	TLNGAVEKPR	PLALPLPRSV	EESYITSEHC
850	860	870	880	890	900
YQKPRAYYPA	VEQKLVVETR	GSALDDAVNP	LHENGDDSLS	PRLGWPLDQD	RSKGDSDPKP
910	920	930	940	950	960
GSPKVKEYVS	KKALPEEAPA	RKLLDRGGEG	LLSSQHQWQF	NLLTHVESLQ	DEVTHRMDSI
970	980	990	1000	1010
EKELDVLESW	LDYTGELEPP	EPLARLPQLK	HCIKQLLMDL	GKVQQIALCC	ST