AiPD: Autoinhibited Protein Database

Q8N5A5

Gene name	ZGPAT (GPATC6, GPATCH6, KIAA1847, ZC3H9, ZC3HDC9, ZIP)
Protein name	Zinc finger CCCH-type with G patch domain-containing protein
Names	G patch domain-containing protein 6, Zinc finger CCCH domain-containing protein 9, Zinc finger and G patch domain-containing protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:84619
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

241-315 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

241-315 (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

2 structures for Q8N5A5

Entry ID	Method	Resolution	Chain	Position	Source
4II1	X-ray	265 A	A/B/C/D	120-268	PDB
AF-Q8N5A5-F1	Predicted				AlphaFoldDB

520 variants for Q8N5A5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA409713759 rs1164405126	2	D>G		No	ClinGen TOPMed gnomAD
rs1427831274 CA409713763	3	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs145783963 CA9967142	4	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1278883426 CA409713779	5	S>G		No	ClinGen TOPMed
rs779358644 CA9967143	5	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1391948073 CA409713786	6	L>V		No	ClinGen gnomAD
CA9967144 rs746215830	7	E>G		No	ClinGen ExAC gnomAD
rs373759526 CA317544088	8	S>L		No	ClinGen ESP
rs954385455 CA317544091	9	A>P		No	ClinGen TOPMed
CA9967146 rs780587975	9	A>V		No	ClinGen ExAC gnomAD
rs907563076 CA317544099	12	T>I		No	ClinGen TOPMed gnomAD
CA9967149 rs776191646	13	Y>F		No	ClinGen ExAC gnomAD
CA9967151 rs769739125	14	R>C		No	ClinGen ExAC gnomAD
rs769739125 CA317544105	14	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs961903105 CA317544110	14	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA409713834 rs961903105	14	R>L		No	ClinGen TOPMed gnomAD
CA9967153 rs762898001	16	Q>K		No	ClinGen ExAC gnomAD
CA409713857 rs1447959530	18	Q>P		No	ClinGen gnomAD
rs1168016979 CA409713875	20	V>A		No	ClinGen gnomAD
CA409713871 rs1360034196	20	V>L		No	ClinGen TOPMed
rs774132992 CA9967155	23	A>S		No	ClinGen ExAC TOPMed gnomAD
CA9967157 rs760833365	27	G>D		No	ClinGen ExAC gnomAD
CA409713924 rs1337225910	29	D>H		No	ClinGen gnomAD
rs1169821948 CA409713928	29	D>V		No	ClinGen TOPMed
rs529460229 CA317544133	30	S>L		No	ClinGen 1000Genomes
rs1444515879 CA409713953	33	Q>P		No	ClinGen TOPMed
CA9967159 rs753950895	34	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1307523731 CA409713981	37	R>L		No	ClinGen gnomAD
CA317544143 rs948891851	38	Q>*		No	ClinGen Ensembl
rs750848676 CA9967162	41	G>A		No	ClinGen ExAC TOPMed gnomAD
rs750848676 CA409714005	41	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1344925425 CA409714007	42	D>N		No	ClinGen gnomAD
rs759005591 CA409714018	43	L>P		No	ClinGen ExAC gnomAD
CA9967163 rs759005591	43	L>R		No	ClinGen ExAC gnomAD
CA317544152 rs1046427918	44	K>N		No	ClinGen Ensembl
rs780499990 CA9967164	46	L>V		No	ClinGen ExAC gnomAD
CA409714044 rs1456953260	47	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs747435623 CA9967165	47	I>V		No	ClinGen ExAC gnomAD
CA9967168 rs371170725	52	A>T		No	ClinGen ESP TOPMed gnomAD
CA317544158 rs867435294	53	S>R		No	ClinGen Ensembl
rs375314362 CA9967170	54	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA9967171 rs569465757	55	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs772808601 CA9967172	56	S>F		No	ClinGen ExAC gnomAD
rs1287874569 CA409714099	57	V>I		No	ClinGen gnomAD
CA409714106 rs1383341821	58	R>G		No	ClinGen gnomAD
TCGA novel	59	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759396847 CA9967176	60	S>G		No	ClinGen ExAC gnomAD
rs1568780570 CA409714130	61	S>N		No	ClinGen Ensembl
CA9967179 rs1291212 CA409714133 VAR_025539	61	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD UniProt dbSNP
CA409714140 rs1327468399	62	L>F		No	ClinGen gnomAD
CA409714137 rs1379599118	62	L>S		No	ClinGen TOPMed
CA409714154 rs1261465207	65	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1189536015 CA409714160	66	L>M		No	ClinGen gnomAD
rs1266823721 CA409714162	66	L>P		No	ClinGen gnomAD
CA409714172 rs1379587131	67	D>E		No	ClinGen TOPMed gnomAD
CA9967180 rs139922283	68	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA409714181 rs1200011026	69	E>Q		No	ClinGen gnomAD
rs765193445 CA9967181	70	R>C		No	ClinGen ExAC gnomAD
rs757829163 CA317544188	71	P>L		No	ClinGen Ensembl
CA9967182 rs149372468	72	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1413181 rs1345412182 CA409714208	73	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1345412182 CA409714207	73	R>L		No	ClinGen gnomAD
COSM1483848 rs201544347 CA317544198	76	D>N	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA317544200 rs201544347	76	D>Y		No	ClinGen gnomAD
CA409714234 rs1568780758	77	A>D		No	ClinGen Ensembl
CA317544203 rs946948047	78	E>K		No	ClinGen TOPMed gnomAD
rs767059625 CA409714253	80	Q>*		No	ClinGen ExAC gnomAD
CA9967184 rs767059625	80	Q>E		No	ClinGen ExAC gnomAD
rs189722588 CA9967185	81	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM379940 rs368081824 CA317544213	83	R>Q	lung [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
CA9967188 rs747712703	85	A>T		No	ClinGen ExAC TOPMed gnomAD
rs777085092 CA9967190	87	T>A		No	ClinGen ExAC gnomAD
rs748859108 CA9967191	87	T>I		No	ClinGen ExAC gnomAD
rs770854458 CA9967192	88	E>*		No	ClinGen ExAC gnomAD
rs750873972 CA317544233	94	A>G		No	ClinGen TOPMed
CA9967194 rs778865073	94	A>P		No	ClinGen ExAC gnomAD
CA9967193 rs778865073	94	A>T		No	ClinGen ExAC gnomAD
rs771717176 CA9967195	96	A>V		No	ClinGen ExAC gnomAD
CA409714354 rs374989957	97	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA9967196 rs374989957	97	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA9967197 rs761874875	97	R>L		No	ClinGen ExAC gnomAD
rs1424673979 CA409714362	98	G>E		No	ClinGen gnomAD
CA409714365 rs1601309096	99	S>A		No	ClinGen Ensembl
CA409714367 rs951663826	99	S>C		No	ClinGen TOPMed gnomAD
rs951663826 CA317544242	99	S>F		No	ClinGen TOPMed gnomAD
CA409714369 rs1205334713	100	G>R		No	ClinGen TOPMed
rs1487866324 CA409714374	101	S>P		No	ClinGen TOPMed
rs1162268879 CA409714387	102	E>D		No	ClinGen Ensembl
CA409714385 rs1375928536	102	E>V		No	ClinGen gnomAD
CA409714399 rs1601309254	104	V>G		No	ClinGen Ensembl
TCGA novel	104	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1314560277 CA409714394	104	V>L		No	ClinGen gnomAD
CA9967201 rs766969464	105	P>A		No	ClinGen ExAC gnomAD
CA317544262 rs6089764	105	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9967202 rs6089764	105	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs760116753 CA9967203	107	A>T		No	ClinGen ExAC TOPMed gnomAD
CA409714415 rs1352492171	107	A>V		No	ClinGen TOPMed
rs1203688447 CA409714424	109	A>T		No	ClinGen gnomAD
CA9967205 COSM3423828 rs753115313	109	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA409714431 rs540416144	110	G>A		No	ClinGen TOPMed gnomAD
rs540416144 CA317544276	110	G>E		No	ClinGen TOPMed gnomAD
rs755704901 CA9967206	110	G>R		No	ClinGen ExAC gnomAD
rs1164914477 CA409714444	112	E>G		No	ClinGen gnomAD
rs756811660 CA9967209	113	S>F		No	ClinGen ExAC TOPMed gnomAD
CA9967210 rs778419808	114	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9967211 rs745767181	115	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1157324893 CA409714464	116	G>C		No	ClinGen TOPMed
CA409714467 rs1356803434	116	G>V		No	ClinGen TOPMed gnomAD
rs1383776668 CA409714471	117	G>E		No	ClinGen TOPMed gnomAD
rs1336558716 CA409714470	117	G>R		No	ClinGen gnomAD
rs1383776668 CA409714473	117	G>V		No	ClinGen TOPMed gnomAD
rs1295454060 CA409714486	119	E>G		No	ClinGen gnomAD
rs1295454060 CA409714487	119	E>V		No	ClinGen gnomAD
rs1338776231 CA409714494	120	E>G		No	ClinGen TOPMed gnomAD
rs1338776231 CA409714495	120	E>V		No	ClinGen TOPMed gnomAD
CA409714498 rs1215257805	121	E>*		No	ClinGen TOPMed gnomAD
TCGA novel	121	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409714499 rs1215257805	121	E>K		No	ClinGen TOPMed gnomAD
rs769874588 CA9967217	123	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1201524234 CA409714527	125	D>N		No	ClinGen TOPMed gnomAD
CA409714540 rs1461465507	126	E>G		No	ClinGen gnomAD
TCGA novel	127	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771090985 CA9967220	127	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1568781410 CA409714550	128	E>*		No	ClinGen Ensembl
CA9967221 rs774573345	128	E>G		No	ClinGen ExAC gnomAD
CA409714560 rs1170721385	129	L>R		No	ClinGen gnomAD
rs759900871 CA9967222	129	L>V		No	ClinGen ExAC gnomAD
rs1413319083 CA409714574	131	G>E		No	ClinGen gnomAD
CA409714571 rs1422261982	131	G>W		No	ClinGen gnomAD
CA409714577 rs1601309740	132	T>S		No	ClinGen Ensembl
CA9967223 rs768125394	133	K>R		No	ClinGen ExAC gnomAD
rs1387875490 CA409714612	137	P>L		No	ClinGen TOPMed
rs1318722516 CA409714615	138	Y>H		No	ClinGen TOPMed gnomAD
rs1459191785 CA409714627	139	Y>C		No	ClinGen TOPMed
rs753443508 CA9967227	140	S>N		No	ClinGen ExAC gnomAD
rs1389810697 CA409714641	141	S>F		No	ClinGen TOPMed
rs778327803 CA9967229	144	T>S		No	ClinGen ExAC TOPMed gnomAD
CA317544328 rs200800929	146	E>*		No	ClinGen Ensembl
rs749964788 CA9967230	147	Y>C		No	ClinGen ExAC gnomAD
rs1328097086 CA409714686	148	H>R		No	ClinGen gnomAD
CA409714683 rs1375430117	148	H>Y		No	ClinGen TOPMed
TCGA novel	149	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409714703 rs1200297330	150	A>V		No	ClinGen TOPMed
CA317544336 rs1053269807	151	M>I		No	ClinGen Ensembl
TCGA novel	151	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM578463 rs1014505451 CA317544334	151	M>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA409714721 rs780078001	153	V>A		No	ClinGen ExAC gnomAD
rs780078001 CA9967232	153	V>G		No	ClinGen ExAC gnomAD
rs1281618053 CA409714717	153	V>M		No	ClinGen gnomAD
CA9967234 rs754770242	155	T>R		No	ClinGen ExAC gnomAD
rs781162866 CA9967235	158	A>T		No	ClinGen ExAC
rs749451851 CA9967236	159	E>K		No	ClinGen ExAC gnomAD
CA317544348 rs961727987	161	G>S		No	ClinGen TOPMed gnomAD
rs1186574771 CA409714779	162	S>L		No	ClinGen TOPMed
CA317544350 rs771287246	163	A>P		No	ClinGen ExAC gnomAD
rs771287246 CA9967237	163	A>S		No	ClinGen ExAC gnomAD
CA409714781 rs1157265529	163	A>V		No	ClinGen gnomAD
rs978398393 CA317544359	164	G>R		No	ClinGen Ensembl
CA409714788 rs1401554044	164	G>V		No	ClinGen TOPMed gnomAD
CA409714792 rs1601310114	165	V>G		No	ClinGen Ensembl
CA9967242 rs776116149	166	R>C		No	ClinGen ExAC gnomAD
CA9967241 rs776116149	166	R>S		No	ClinGen ExAC gnomAD
CA317544367 rs904679294	169	Y>F		No	ClinGen Ensembl
rs904679294 CA409714814	169	Y>S		No	ClinGen Ensembl
rs764405178 CA409714819	170	L>V		No	ClinGen ExAC gnomAD
rs1601310202 CA409714826	171	Y>S		No	ClinGen Ensembl
rs1234140191 CA409714833	172	P>S		No	ClinGen TOPMed
CA409714837 rs1601310269	173	T>P		No	ClinGen Ensembl
CA9967247 rs749898178	174	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1568781859 CA409714845 COSM1751563	174	H>Y	urinary_tract [Cosmic]	No	ClinGen cosmic curated Ensembl
rs757973946 CA9967248	175	K>N		No	ClinGen ExAC gnomAD
rs751473921 CA9967250	178	K>T		No	ClinGen ExAC TOPMed gnomAD
CA9967253 rs748012028	179	P>L		No	ClinGen ExAC gnomAD
CA9967252 rs781072286	179	P>S		No	ClinGen ExAC gnomAD
TCGA novel	179	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs377575906 CA409714887	181	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs148690027 CA9967256	181	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148690027 CA409714890	181	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs377575906 CA9967255	181	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs775466771 CA409714907	184	L>M		No	ClinGen ExAC gnomAD
rs747483402 CA9967259	186	G>R		No	ClinGen ExAC gnomAD
CA409714924 rs1388493773	186	G>V		No	ClinGen gnomAD
rs1326567226 CA409714927	187	K>*		No	ClinGen gnomAD
TCGA novel	187	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409714929 rs1334905385	187	K>R		No	ClinGen gnomAD
rs1279133546 CA409714933	188	C>S		No	ClinGen gnomAD
rs1239529129 CA409714936	188	C>Y		No	ClinGen gnomAD
CA9967260 rs769165453	189	R>C		No	ClinGen ExAC gnomAD
CA409714945 rs1244590395	189	R>H		No	ClinGen gnomAD
rs762233986 CA9967262	192	E>K		No	ClinGen ExAC gnomAD
CA317544419 rs1026213217	194	C>S		No	ClinGen Ensembl
CA409716623 rs1262569979	201	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA409716619 rs1262569979	201	V>M		No	ClinGen gnomAD
CA409716644 rs1430412432	202	V>A		No	ClinGen gnomAD
rs1568801331 CA409716638	202	V>F		No	ClinGen Ensembl
CA409716689 COSM345166 rs1427133276	205	D>N	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA409716723 rs1333509517	206	E>V		No	ClinGen TOPMed
CA409716745 rs1479951317	208	R>C		No	ClinGen TOPMed gnomAD
CA9967288 rs767542214	208	R>H		No	ClinGen ExAC TOPMed gnomAD
rs752635917 CA9967289 COSM578462	211	Q>*	lung [Cosmic]	No	ClinGen cosmic curated ExAC
rs760730273 CA9967290	211	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs903150759 CA409716852	213	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs903150759 CA317494213	213	P>R		No	ClinGen TOPMed gnomAD
CA317494216 rs775512091	215	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA9967291 rs142241981	217	S>F		No	ClinGen ESP ExAC gnomAD
CA9967293 rs758633303	220	A>V		No	ClinGen ExAC TOPMed gnomAD
rs374721226 CA9967296	221	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs374721226 CA9967297	221	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs748587525 CA9967298	222	S>C		No	ClinGen ExAC gnomAD
CA409718122 rs748587525	222	S>F		No	ClinGen ExAC gnomAD
rs199550529 CA9967299	223	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199550529 CA409718128	223	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA409718142 rs1347607184	223	A>V		No	ClinGen gnomAD
CA317494263 rs996126477	226	A>P		No	ClinGen Ensembl
CA409718194 rs1486858508	228	H>Y		No	ClinGen gnomAD
rs1251644183 CA409718217	229	Q>H		No	ClinGen TOPMed
rs774192812 CA9967304	230	D>E		No	ClinGen ExAC TOPMed gnomAD
CA9967302 rs770583665	230	D>G		No	ClinGen ExAC gnomAD
rs775149586 CA9967306	232	L>H		No	ClinGen ExAC gnomAD
rs140325582 CA9967308	234	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs776481460 CA9967309	235	A>T		No	ClinGen ExAC TOPMed gnomAD
CA317494289 rs987183707	236	A>V		No	ClinGen Ensembl
CA9967310 rs145256068	237	R>C	Variant assessed as Somatic; 4.911e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA9967311 rs199674062	237	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs751737983 CA409718321	238	I>L		No	ClinGen ExAC gnomAD
rs751737983 CA9967312	238	I>V		No	ClinGen ExAC gnomAD
rs1601349031 CA409718335	239	T>A		No	ClinGen Ensembl
CA409718341 rs1365484867	239	T>S		No	ClinGen gnomAD
CA317494291 rs377765852	240	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1029173 CA9967314 rs377765852	240	D>Y	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs991669063 CA317494468	241	V>A		No	ClinGen Ensembl
rs758120013 CA9967341	243	N>D		No	ClinGen ExAC TOPMed gnomAD
rs569321240 CA317494477	244	G>C		No	ClinGen 1000Genomes gnomAD
rs569321240 CA409718574	244	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA gnomAD
rs768003610 CA9967344	245	Y>*		No	ClinGen ExAC gnomAD
CA9967343 rs375812373	245	Y>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1601349578 CA409718672	246	Y>H		No	ClinGen Ensembl
rs372783494 CA317494495	250	F>S		No	ClinGen ESP
rs533220710 CA317494498	251	D>E		No	ClinGen Ensembl
CA9967347 rs147215704	252	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA409718953 rs1171522386	255	L>M		No	ClinGen gnomAD
rs1317966438 CA409718993	256	R>G		No	ClinGen gnomAD
TCGA novel	257	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1350514802 CA409719134	259	V>A		No	ClinGen gnomAD
CA9967350 rs772256599	259	V>M		No	ClinGen ExAC TOPMed gnomAD
CA9967351 rs775523781	260	V>A		No	ClinGen ExAC gnomAD
rs1474715853 CA409719189	262	G>V		No	ClinGen TOPMed
rs369654019 COSM1240707 CA9967353	264	G>S	Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
TCGA novel	266	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1601349702 CA409719354	266	L>R		No	ClinGen Ensembl
TCGA novel	269	L>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200749334 CA9967356	270	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA9967357 rs376773744	270	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs758884199 CA9967358	271	T>I		No	ClinGen ExAC gnomAD
CA9967359 rs200268567	272	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs932640309 CA317494545	273	A>T		No	ClinGen gnomAD
rs1258527591 CA409719582	274	T>I		No	ClinGen TOPMed
rs754670538 CA9967361	275	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9967363 rs747760596	277	D>N		No	ClinGen ExAC gnomAD
CA9967364 rs1555831179	278	S>P		No	ClinGen Ensembl
rs1176240589 CA409719743	279	D>N		No	ClinGen gnomAD
CA9967366 rs138413259	280	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA317494570 rs1005018219	282	G>S		No	ClinGen TOPMed gnomAD
CA409719915 rs1431588752	283	T>A		No	ClinGen gnomAD
rs373921217 CA9967370	283	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA409719953 rs1221454317	284	G>C		No	ClinGen gnomAD
CA409719957 rs1282456514	284	G>D		No	ClinGen gnomAD
rs1281723231 CA409720009	286	S>C		No	ClinGen gnomAD
CA9967375 rs140656554	287	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1265968613 CA409720046	288	Y>C		No	ClinGen gnomAD
CA9967376 rs750912629	288	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA409720100 rs1199121866	291	V>L		No	ClinGen gnomAD
rs769957221 CA9967393	292	V>A		No	ClinGen ExAC gnomAD
CA409720455 rs1366321479	292	V>M		No	ClinGen TOPMed
CA9967394 rs773436970	293	G>E		No	ClinGen ExAC gnomAD
rs373776605 CA9967396	294	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs759989979 CA9967398	295	D>V		No	ClinGen ExAC gnomAD
COSM1413183 CA409720584 rs1176701629	296	A>T	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA9967400 rs752304230	296	A>V		No	ClinGen ExAC gnomAD
CA9967403 rs753406862	297	V>A		No	ClinGen ExAC gnomAD
rs142109835 CA9967402	297	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9967405 CA409720648 rs778954072	298	D>E		No	ClinGen ExAC gnomAD
CA409720627 rs1568802992	298	D>G		No	ClinGen Ensembl
CA409720613 rs1209015640	298	D>N		No	ClinGen TOPMed
CA9967408 rs376980453	301	Q>R		No	ClinGen ESP ExAC gnomAD
CA9967409 rs779748126	303	S>C		No	ClinGen ExAC gnomAD
CA317495116 rs779748126	303	S>F		No	ClinGen ExAC gnomAD
rs867749644 CA317495130	305	L>F		No	ClinGen gnomAD
rs201732460 CA9967411	305	L>P		No	ClinGen ExAC TOPMed gnomAD
rs201213325 CA9967412	307	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA317495148 rs891247784	308	S>C		No	ClinGen TOPMed
rs771316530 CA9967414	308	S>P		No	ClinGen ExAC gnomAD
rs1378292797 CA409720939	309	L>F		No	ClinGen TOPMed
CA9967415 rs774872681	310	A>T		No	ClinGen ExAC gnomAD
CA409720999 rs1312877068	311	V>L		No	ClinGen gnomAD
rs759991028 CA9967416	313	G>V		No	ClinGen ExAC TOPMed gnomAD
CA409721096 rs1225828685	314	S>A		No	ClinGen gnomAD
TCGA novel	315	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9967417 rs146368477	316	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9967419 rs760308422	318	D>G		No	ClinGen ExAC gnomAD
rs897333909 CA317495161	318	D>N		No	ClinGen TOPMed gnomAD
rs1461082827 CA409721213	319	S>T		No	ClinGen gnomAD
CA9967420 rs763803634	320	G>E		No	ClinGen ExAC gnomAD
CA409721234 rs1201086086	320	G>R		No	ClinGen TOPMed gnomAD
rs1190866035 CA409721278	322	C>S		No	ClinGen TOPMed gnomAD
rs756844838 CA409721296	322	C>W		No	ClinGen ExAC TOPMed gnomAD
CA409721275 rs1190866035	322	C>Y		No	ClinGen TOPMed gnomAD
CA409721303 rs1478023553	323	S>G		No	ClinGen gnomAD
CA317495177 rs1027493872	323	S>N		No	ClinGen Ensembl
CA409721352 rs1200425357	324	S>F		No	ClinGen gnomAD
rs1172629797 CA409721408	327	A>P		No	ClinGen gnomAD
COSM1615880 CA409721419 rs1236357496	327	A>V	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
CA409721420 rs1426748119	328	G>S		No	ClinGen gnomAD
rs1465273637 CA409721501	331	V>A		No	ClinGen TOPMed gnomAD
rs758275876 CA9967425	334	R>*		No	ClinGen ExAC gnomAD
rs1298051577 CA409721566	334	R>Q		No	ClinGen TOPMed gnomAD
rs1255942236 CA409721612	336	I>T		No	ClinGen TOPMed
rs1355108635 CA409721603	336	I>V		No	ClinGen TOPMed
TCGA novel	337	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779980060 CA9967426	339	R>T		No	ClinGen ExAC TOPMed gnomAD
rs746865146 CA9967427	342	T>I		No	ClinGen ExAC gnomAD
rs969928229 CA317495196	346	Y>F		No	ClinGen TOPMed
CA409721825 rs1295853235	347	E>D		No	ClinGen TOPMed
TCGA novel	347	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762414829 CA9967459	354	R>*		No	ClinGen ExAC TOPMed gnomAD
CA9967460 rs774274621	354	R>P		No	ClinGen ExAC TOPMed gnomAD
rs774274621 CA9967461	354	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA317495354 rs759550315	355	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA317495352 rs910979568	355	H>Y		No	ClinGen Ensembl
CA409722175 rs1379139299	356	A>E		No	ClinGen gnomAD
rs767361941 CA317495357	356	A>S		No	ClinGen ExAC gnomAD
rs767361941 CA9967463	356	A>T		No	ClinGen ExAC gnomAD
CA409722180 rs1379139299	356	A>V		No	ClinGen gnomAD
rs757499255 CA409722189	357	E>*		No	ClinGen ExAC TOPMed gnomAD
rs757499255 CA9967465	357	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1321107113 CA409722216	358	G>S		No	ClinGen gnomAD
CA409722233 rs987878223	359	R>G		No	ClinGen TOPMed gnomAD
CA9967466 rs779045592	359	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA317495369 rs987878223	359	R>W		No	ClinGen TOPMed gnomAD
CA9967468 rs758424638	364	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1197566277 CA409722379	364	H>Y		No	ClinGen gnomAD
rs780142904 CA9967469	365	A>T		No	ClinGen ExAC gnomAD
rs930195131 CA317495386	368	L>V		No	ClinGen Ensembl
CA317495390 rs967667093	369	P>L		No	ClinGen TOPMed gnomAD
rs747453837 CA9967471	370	R>*		No	ClinGen ExAC gnomAD
rs1353073651 CA409722509	370	R>P		No	ClinGen gnomAD
rs755491802 CA9967472	371	G>R		No	ClinGen ExAC gnomAD
rs1048653003 CA317495396	372	K>R		No	ClinGen gnomAD
CA9967473 COSM1029176 rs781610219	373	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA9967477 rs772687386	377	C>R		No	ClinGen ExAC gnomAD
CA9967479 rs770498302	378	V>E		No	ClinGen ExAC gnomAD
CA9967478 rs748976618	378	V>M		No	ClinGen ExAC gnomAD
CA9967480 rs774010788	379	E>D		No	ClinGen ExAC gnomAD
rs1258289985 CA409722669	379	E>K		No	ClinGen gnomAD
CA409722709 rs1207377435	380	T>I		No	ClinGen gnomAD
CA409722704 rs1207377435	380	T>N		No	ClinGen gnomAD
CA409722721 rs1440537626	381	L>P		No	ClinGen gnomAD
rs1236346601 CA409722740	382	Q>R		No	ClinGen gnomAD
rs1184053164 CA409722825	385	T>I		No	ClinGen TOPMed gnomAD
rs759532004 CA9967481	386	R>T		No	ClinGen ExAC TOPMed gnomAD
CA9967482 rs767631768	387	V>A		No	ClinGen ExAC gnomAD
rs775325229 CA9967483	388	G>V		No	ClinGen ExAC TOPMed gnomAD
CA409722943 rs1450313389	391	G>S		No	ClinGen gnomAD
CA317495410 rs760436621	392	T>I		No	ClinGen ExAC
rs760436621 CA9967485	392	T>N		No	ClinGen ExAC
CA9967486 rs763971729	394	K>T		No	ClinGen ExAC gnomAD
rs370604942 CA9967487	395	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA409723041 rs1399141944	395	P>T		No	ClinGen gnomAD
TCGA novel	397	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9967489 rs766390404	397	R>S		No	ClinGen ExAC TOPMed gnomAD
CA9967488 rs758627917	397	R>T		No	ClinGen ExAC gnomAD
CA9967490 rs751698813	398	C>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	398	C>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9967492 rs781595143	399	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9967491 rs755444519	399	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1601354305 CA409723119	400	G>R		No	ClinGen Ensembl
rs1488275929 CA409723129	400	G>V		No	ClinGen gnomAD
rs866448387 CA317495432	401	R>G		No	ClinGen Ensembl
CA409723140 rs1194799280	401	R>K		No	ClinGen gnomAD
TCGA novel	401	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748707620 CA9967493 CA409723159	402	G>R		No	ClinGen ExAC TOPMed gnomAD
rs756390245 CA9967494	403	A>S		No	ClinGen ExAC TOPMed gnomAD
CA9967495 rs778203961	403	A>V		No	ClinGen ExAC TOPMed gnomAD
rs892486388 CA317495443	404	R>S		No	ClinGen TOPMed gnomAD
rs1416236797 CA409723231	405	P>L		No	ClinGen gnomAD
rs1358514112 CA409723257	407	G>D		No	ClinGen gnomAD
rs200343535 CA9967496	408	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9967497 rs138272828	408	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA409724529 rs138272828	408	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1342084279 CA409724538	409	P>L		No	ClinGen gnomAD
rs1273882187 CA409724548	410	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs773992704 CA409724585	412	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9967499 rs529179812	412	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs773992704 CA9967498	412	R>W		No	ClinGen ExAC TOPMed gnomAD
rs576313585 CA9967500	413	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775243188 CA9967501 CA9967502	414	V>L		No	ClinGen ExAC gnomAD
rs373955065 CA9967503	415	F>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1393524264 CA409724664	416	D>Y		No	ClinGen TOPMed
rs763151729 CA9967505	418	L>R		No	ClinGen ExAC TOPMed gnomAD
CA9967506 rs766658226	419	N>D		No	ClinGen ExAC gnomAD
CA409724851 rs1420399960 CA409724847	419	N>K		No	ClinGen TOPMed gnomAD
rs1379720413 CA409724826	419	N>S		No	ClinGen TOPMed gnomAD
rs1159112386 CA409724856	420	E>K		No	ClinGen gnomAD
rs1387138224 CA409724935	421	K>N		No	ClinGen gnomAD
rs976544817 CA409725074	424	G>A		No	ClinGen TOPMed
rs976544817 CA317496565	424	G>D		No	ClinGen TOPMed
rs1601354635 CA409725082	425	Q>*		No	ClinGen Ensembl
rs767662975 CA9967509	425	Q>P		No	ClinGen ExAC gnomAD
rs1601354661 CA409725122	426	A>P		No	ClinGen Ensembl
rs1375440517 CA409725178	427	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs756656348 CA9967511	428	G>R		No	ClinGen ExAC gnomAD
rs1420686179 CA409725219	429	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1354933283 CA409725255	430	L>P		No	ClinGen gnomAD
CA409725294 rs1290988363	432	A>P		No	ClinGen TOPMed gnomAD
CA409725290 rs1290988363	432	A>T		No	ClinGen TOPMed gnomAD
CA409725348 rs1237809773	433	G>A		No	ClinGen gnomAD
CA9967514 rs17855481 COSM478399 CA9967515	433	G>R	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD NCI-TCGA
CA9967516 rs572280894	434	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1601354792 CA409725397	435	A>T		No	ClinGen Ensembl
rs779624579 CA9967518	436	P>L		No	ClinGen ExAC gnomAD
rs201928593 CA9967517	436	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA409725469 rs1162618539	437	A>S		No	ClinGen gnomAD
CA9967519 rs746868722 COSM3841547	437	A>V	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs761642869 CA9967522	438	G>R		No	ClinGen ExAC TOPMed gnomAD
rs761642869 CA409725524	438	G>W		No	ClinGen ExAC TOPMed gnomAD
CA9967523 rs769597520	439	R>K		No	ClinGen ExAC TOPMed gnomAD
CA409725597 rs1306929592	440	R>M		No	ClinGen Ensembl
rs370133689 CA9967524	440	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA409725618 rs1332839463	441	S>N		No	ClinGen gnomAD
rs759805838 CA9967525	443	D>G		No	ClinGen ExAC gnomAD
rs752880223 CA9967527	444	M>T		No	ClinGen ExAC gnomAD
CA409725767 rs1358832916	445	Y>*		No	ClinGen gnomAD
TCGA novel	445	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409725777 rs1217261720	446	H>Y		No	ClinGen gnomAD
rs761080042 CA9967528	449	K>R		No	ClinGen ExAC gnomAD
rs891948379 CA317496595	450	S>N		No	ClinGen TOPMed gnomAD
rs1455230910 CA409725901	451	A>S		No	ClinGen TOPMed
CA9967530 rs754234486	453	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA317496598 rs561163473	453	R>W		No	ClinGen 1000Genomes gnomAD
CA9967531 rs757648210	454	A>V		No	ClinGen ExAC TOPMed gnomAD
rs779452220 CA9967532	455	L>P	Variant assessed as Somatic; 5.451e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9967533 rs750029707	456	S>G		No	ClinGen ExAC gnomAD
rs758086425 CA9967534	456	S>T		No	ClinGen ExAC TOPMed gnomAD
rs200601981 CA9967536	458	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1413186 CA9967535 rs200685533	458	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs368559585 CA9967537	460	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1399367137 CA409726094	461	Q>K		No	ClinGen gnomAD
CA317496607 rs986789451	464	E>K		No	ClinGen Ensembl
rs1335449403 CA409726243	465	K>N		No	ClinGen gnomAD
CA317496611 rs967802990	467	E>K		No	ClinGen TOPMed gnomAD
rs769506983 CA9967540	468	R>*		No	ClinGen ExAC TOPMed gnomAD
CA9967541 rs773000592	468	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs532583468 CA9967544	471	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9967543 rs772404661	471	R>W		No	ClinGen ExAC TOPMed gnomAD
CA409726572 rs1191456735	473	I>S		No	ClinGen gnomAD
rs1486639481 CA409726552	473	I>V		No	ClinGen gnomAD
CA9967546 rs764293064	474	R>K		No	ClinGen ExAC gnomAD
rs760857342 CA9967545	474	R>W		No	ClinGen ExAC gnomAD
rs754357232 CA9967547	475	S>T		No	ClinGen ExAC gnomAD
rs1375648178 CA409726680	476	I>N		No	ClinGen TOPMed gnomAD
rs146057569 CA9967548	478	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9967550 rs375085287	481	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs760288064 CA317496636	482	R>C		No	ClinGen TOPMed gnomAD
CA9967551 rs765638920	482	R>H		No	ClinGen ExAC gnomAD
rs765638920 CA317496639	482	R>P		No	ClinGen ExAC gnomAD
rs760288064 CA409726901	482	R>S		No	ClinGen TOPMed gnomAD
CA317496645 rs1043789056	483	N>D		No	ClinGen Ensembl
CA409726926 rs1043789056	483	N>H		No	ClinGen Ensembl
CA409727008 rs368346804	484	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9967553 rs368346804	484	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs754468543 CA9967554	485	G>D		No	ClinGen ExAC gnomAD
rs1195382100 CA409727036	485	G>S		No	ClinGen TOPMed
CA409727118 rs200051356	486	R>P		No	ClinGen ExAC TOPMed gnomAD
CA9967556 rs200051356	486	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs780681193 CA9967555	486	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9967578 rs139711299	487	H>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA409727394 rs1410706176	487	H>R		No	ClinGen TOPMed
rs139711299 CA9967579	487	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9967580 rs767605942	488	S>C		No	ClinGen ExAC TOPMed gnomAD
CA409727412 rs767605942	488	S>G		No	ClinGen ExAC TOPMed gnomAD
rs747197367 CA409727423	488	S>I		No	ClinGen ExAC TOPMed gnomAD
rs747197367 CA9967581	488	S>N		No	ClinGen ExAC TOPMed gnomAD
rs776850416 CA9967583	489	V>M		No	ClinGen ExAC TOPMed gnomAD
CA409727457 rs1456208482	490	A>V		No	ClinGen gnomAD
CA409727486 rs1232914278	491	S>L		No	ClinGen gnomAD
CA409727487 rs1481336212	492	A>T		No	ClinGen gnomAD
CA9967587 rs773725976	493	Q>E		No	ClinGen ExAC gnomAD
rs773725976 CA9967586	493	Q>K		No	ClinGen ExAC gnomAD
rs766704368 CA9967588	495	Q>H		No	ClinGen ExAC gnomAD
CA9967589 rs774632294	496	E>K		No	ClinGen ExAC TOPMed gnomAD
rs774632294 CA409727615	496	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs759183936 CA9967590	496	E>V		No	ClinGen ExAC gnomAD
rs767197865 CA9967591	498	L>V		No	ClinGen ExAC gnomAD
rs1016531515 CA317496772	500	G>E		No	ClinGen TOPMed
CA409727747 rs1224107764	500	G>R		No	ClinGen TOPMed
rs1356299990 CA409727772	501	A>V		No	ClinGen gnomAD
rs1281619123 CA409727804	502	Q>H		No	ClinGen TOPMed
CA317496775 rs376634879	503	R>C		No	ClinGen ESP TOPMed gnomAD
CA9967592 rs144585689	503	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA9967593 rs760128318	504	Q>*		No	ClinGen ExAC gnomAD
rs1297656832 CA409727906	506	G>V		No	ClinGen TOPMed
rs369758532 CA9967598	509	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA9967597 rs750664509	509	R>W		No	ClinGen ExAC TOPMed gnomAD
rs755222790 CA9967599	510	A>T		No	ClinGen ExAC TOPMed gnomAD
rs946269173 CA317496786	513	A>S		No	ClinGen TOPMed gnomAD
CA9967601 rs145269474	514	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	516	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749787061 CA9967604	518	E>D		No	ClinGen ExAC gnomAD
rs780057742 CA9967603	518	E>V		No	ClinGen ExAC gnomAD
CA409728108 rs1422006131	519	Q>*		No	ClinGen gnomAD
CA317496794 rs988322761	521	K>T		No	ClinGen Ensembl
TCGA novel	523	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs914077561 CA317496796	523	D>N		No	ClinGen TOPMed gnomAD
rs968109304 COSM1270921 CA317496801	524	T>I	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed
CA409728235 rs1378793977	526	K>R		No	ClinGen gnomAD
rs144346262 CA9967607	527	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA9967608 rs759940469	528	M>I		No	ClinGen ExAC gnomAD
rs1435216834 CA409728263	528	M>L		No	ClinGen gnomAD
TCGA novel	531	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9967610 rs775082825	532	F>Q		No	ClinGen ExAC gnomAD

No associated diseases with Q8N5A5

3 regional properties for Q8N5A5

Type	Name	Position	InterPro Accession
domain	G-patch domain	331 - 379	IPR000467
domain	Zinc finger, CCCH-type	175 - 201	IPR000571
domain	E3 ligase, CCCH-type zinc finger	178 - 199	IPR041367

Functions

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

4 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

6 GO annotations of molecular function

Name	Definition
DNA-binding transcription factor activity	A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons.
DNA-binding transcription factor activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
DNA-binding transcription repressor activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that represses or decreases the transcription of specific gene sets transcribed by RNA polymerase II.
metal ion binding	Binding to a metal ion.
RNA polymerase II cis-regulatory region sequence-specific DNA binding	Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.
sequence-specific DNA binding	Binding to DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding.

4 GO annotations of biological process

Name	Definition
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 epidermal growth factor-activated receptor activity	Any process that stops, prevents, or reduces the frequency, rate or extent of EGF-activated receptor activity.
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
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
Q9VL59	CG4709	Zinc finger CCCH-type with G patch domain-containing protein	Drosophila melanogaster (Fruit fly)	PR
Q8VDM1	Zgpat	Zinc finger CCCH-type with G patch domain-containing protein	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MDEESLESAL	QTYRAQLQQV	ELALGAGLDS	SEQADLRQLQ	GDLKELIELT	EASLVSVRKS
70	80	90	100	110	120
SLLAALDEER	PGRQEDAEYQ	AFREAITEAV	EAPAAARGSG	SETVPKAEAG	PESAAGGQEE
130	140	150	160	170	180
EEGEDEEELS	GTKVSAPYYS	SWGTLEYHNA	MVVGTEEAED	GSAGVRVLYL	YPTHKSLKPC
190	200	210	220	230	240
PFFLEGKCRF	KENCRFSHGQ	VVSLDELRPF	QDPDLSSLQA	GSACLAKHQD	GLWHAARITD
250	260	270	280	290	300
VDNGYYTVKF	DSLLLREAVV	EGDGILPPLR	TEATESDSDS	DGTGDSSYAR	VVGSDAVDSA
310	320	330	340	350	360
QSSALCPSLA	VVGSDAVDSG	TCSSAFAGWE	VHTRGIGSRL	LTKMGYEFGK	GLGRHAEGRV
370	380	390	400	410	420
EPIHAVVLPR	GKSLDQCVET	LQKQTRVGKA	GTNKPPRCRG	RGARPGGRPA	PRNVFDFLNE
430	440	450	460	470	480
KLQGQAPGAL	EAGAAPAGRR	SKDMYHASKS	AKRALSLRLF	QTEEKIERTQ	RDIRSIQEAL
490	500	510	520	530
ARNAGRHSVA	SAQLQEKLAG	AQRQLGQLRA	QEAGLQQEQR	KADTHKKMTE	F