AiPD: Autoinhibited Protein Database

Q13472

Gene name	TOP3A (TOP3)
Protein name	DNA topoisomerase 3-alpha
Names	DNA topoisomerase III alpha
Species	Homo sapiens (Human)
KEGG Pathway	hsa:7156
EC number	5.6.2.1: Enzymes altering nucleic acid conformation
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

735-804 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

735-804 (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

3 structures for Q13472

Entry ID	Method	Resolution	Chain	Position	Source
4CGY	X-ray	285 A	A	2-753	PDB
4CHT	X-ray	325 A	A	2-753	PDB
AF-Q13472-F1	Predicted				AlphaFoldDB

822 variants for Q13472

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000627802 RCV000678502 rs376902371 CA8430293 VAR_081105	100	M>V	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 Mitochondrial disease PEOB5; results in decreased DNA decatenation [ClinVar, UniProt]	Yes	ESP ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP
CA8430230 RCV000678503 RCV000627803 rs200944917	135	R>*	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 Mitochondrial disease [ClinVar]	Yes	ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
VAR_081106	135	R>del	PEOB5 [UniProt]	Yes	UniProt
VAR_081107	176	A>V	MGRISCE2 [UniProt]	Yes	UniProt
RCV000787954 rs1597981046	300	Y>missing	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 [ClinVar]	Yes	ClinVar dbSNP
CA8429792 rs372121045 RCV000787955	575	M>V	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 [ClinVar]	Yes	ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs1214589149 CA398627876 RCV001329297 RCV002546313	661	C>Y	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 Inborn genetic diseases [ClinVar]	Yes	TOPMed gnomAD ClinGen ClinVar dbSNP
RCV002546314 RCV001329298 rs1239276927 CA398626856	686	R>C	Microcephaly, growth restriction, and increased sister chromatid exchange 2 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001008844 rs752838075 RCV000678246	758	R>missing	Microcephaly, growth restriction, and increased sister chromatid exchange 2 [ClinVar]	Yes	ClinVar dbSNP
rs9911283 RCV002501453 CA8429619 VAR_052590 RCV000889791	773	N>D	Microcephaly, growth restriction, and increased sister chromatid exchange 2 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000678247 rs1555568139	810	S>missing	Microcephaly, growth restriction, and increased sister chromatid exchange 2 [ClinVar]	Yes	ClinVar dbSNP
rs1288928564 RCV000678245	907	T>missing	Microcephaly, growth restriction, and increased sister chromatid exchange 2 [ClinVar]	Yes	ClinVar dbSNP
rs574488396 CA288463745	2	I>S		No	ClinGen 1000Genomes
rs1267987413 CA398644235	2	I>V		No	gnomAD ClinGen
rs34739588 CA8430375	4	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs998781924 CA398644209	4	P>S		No	gnomAD ClinGen
rs998781924 CA288463735	4	P>T		No	gnomAD ClinGen
CA398644190 rs1268340107	6	A>S		No	ClinGen TOPMed gnomAD
CA398644174 rs1347408530	7	R>H		No	ClinGen gnomAD
CA398644172 rs1347408530	7	R>L		No	ClinGen gnomAD
rs1360563127 CA398644171	8	Y>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA398644147 rs1404524611	9	A>V		No	TOPMed gnomAD ClinGen
CA8430372 rs780458241	10	L>F		No	ExAC TOPMed gnomAD ClinGen
CA8430371 rs772324369	11	R>P		No	ClinGen ExAC gnomAD
rs1308204529 CA398644087	14	R>*		No	ClinGen TOPMed
rs373981678 CA8430369	15	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA398644073 rs1597995209	15	R>Q		No	Ensembl ClinGen
CA8430370 rs373981678	15	R>W		No	ESP ExAC TOPMed gnomAD ClinGen
rs1268932491 CA398644067	16	P>S		No	ClinGen gnomAD
CA8430367 rs752227199	17	E>*		No	ClinGen ExAC gnomAD
CA288463664 rs1042961967	18	D>N		No	ClinGen Ensembl
CA398644026 rs1204862656	19	R>G		No	gnomAD ClinGen
rs1436944433 CA398644015	20	A>S		No	ClinGen gnomAD
CA398644011 rs1436944433	20	A>T		No	ClinGen gnomAD
rs754647821 CA8430365	21	F>S		No	ClinGen ExAC gnomAD
rs1324223441 CA398643983	22	S>Y		No	ClinGen gnomAD
rs997490726 CA288463662	23	R>L		No	TOPMed ClinGen
rs1343778749 CA398643949	25	A>T		No	ClinGen gnomAD
CA398643905 rs758149454	29	A>D		No	ExAC gnomAD ClinGen
COSM1749893 CA8430362 rs758149454	29	A>V	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs761786093 CA8430360	30	L>F		No	ExAC TOPMed gnomAD ClinGen
rs761786093 CA8430359	30	L>V		No	ClinGen ExAC TOPMed gnomAD
CA8430357 rs764144656	32	G>C		No	ClinGen ExAC TOPMed gnomAD
CA398643894 rs764144656	32	G>S		No	ClinGen ExAC TOPMed gnomAD
rs772437400 CA8430354	34	R>Q		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	37	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA288463616 rs943476403	37	L>V		No	ClinGen gnomAD
CA288463604 rs572186064	38	C>Y		No	Ensembl ClinGen
rs774900188 CA8430352	40	A>T		No	ClinGen ExAC gnomAD
CA398643808 rs1230922938	45	A>S		No	gnomAD ClinGen
rs1230922938 CA398643810	45	A>T		No	ClinGen gnomAD
rs559137278 CA8430351	45	A>V		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA288463582 rs570569758	46	A>G		No	ClinGen 1000Genomes
CA398643799 rs1262414506	47	K>*		No	gnomAD ClinGen
rs1321417797 CA398643782	49	I>T		No	gnomAD ClinGen
CA8430349 rs551758837	50	A>G		No	ClinGen ExAC gnomAD
rs1309272856 CA398643777	50	A>S		No	gnomAD ClinGen
rs1309272856 CA398643779	50	A>T		No	ClinGen gnomAD
CA288463580 rs551758837	50	A>V		No	ClinGen ExAC gnomAD
CA288463572 rs973663247	51	D>Y		No	ClinGen Ensembl
rs776815778 CA288463565	52	L>M		No	ExAC gnomAD ClinGen
rs370459618 CA8430347	55	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA398643744 rs1268236022	56	G>C		No	ClinGen gnomAD
rs758109007 CA8430345	56	G>D		No	ClinGen ExAC gnomAD
CA8430346 rs758109007	56	G>V		No	ClinGen ExAC gnomAD
rs765072503 CA8430344	57	R>C		No	ExAC gnomAD ClinGen
CA398643739 rs1336572826	57	R>L		No	ClinGen TOPMed gnomAD
rs765072503 CA8430343	57	R>S		No	ExAC gnomAD ClinGen
CA398643730 rs1346404881	58	M>I		No	ClinGen TOPMed gnomAD
CA288463534 rs963014278	59	R>G		No	ClinGen Ensembl
rs1418041221 CA398643722	60	R>Q		No	gnomAD ClinGen
CA288463532 rs770895690	60	R>W		No	ClinGen TOPMed gnomAD
rs150497993 CA8430326	64	L>V		No	ClinGen ESP ExAC gnomAD
CA8430325 rs757971587	67	F>S		No	ExAC gnomAD ClinGen
rs200695657 CA8430324	68	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1022831619 CA288459877	69	K>N		No	gnomAD ClinGen
rs778609625 CA8430323	71	Y>C		No	ClinGen ExAC gnomAD
rs757055039 CA8430322	72	E>G		No	ExAC gnomAD ClinGen
rs1448697312 CA398642350	74	D>H		No	ClinGen TOPMed
rs1291366595 CA398642320	75	Y>F		No	ClinGen gnomAD
CA8430319 rs756120283	76	H>P		No	ClinGen ExAC TOPMed gnomAD
CA8430318 rs752700075	77	L>Q		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	77	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1296910845 CA398642264	78	Y>C		No	TOPMed gnomAD ClinGen
CA398642253 rs1382157817	79	G>V		No	ClinGen gnomAD
rs1359177130 CA398642237	80	Q>H		No	gnomAD ClinGen
CA8430303 rs769724330	81	N>S		No	ClinGen ExAC TOPMed gnomAD
CA398642149 rs769724330	81	N>T		No	ClinGen ExAC TOPMed gnomAD
rs550633885 CA8430301	83	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA398642087 rs1297423630	84	M>I		No	ClinGen gnomAD
rs752749572 CA8430299	84	M>T		No	ClinGen ExAC gnomAD
TCGA novel CA398642036 rs1408177952	86	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
CA8430298 rs781068422	86	M>V		No	ClinGen ExAC gnomAD
rs755124563 CA8430297	90	S>A		No	ClinGen ExAC TOPMed gnomAD
CA398641989 rs1189573321	90	S>Y		No	ClinGen TOPMed
rs751782389 CA8430296	92	H>R		No	ExAC TOPMed gnomAD ClinGen
CA8430295 rs766739694 CA398641934	93	L>F		No	ClinGen ExAC TOPMed
rs763315335 CA8430294	96	H>R		No	ClinGen ExAC gnomAD
CA288459509 rs1018116487	99	Q>H		No	Ensembl ClinGen
CA288459503 rs1024367275	101	Q>H		No	ClinGen TOPMed gnomAD
rs1428940555 CA398641781 COSM1230074	103	R>*	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs765699208 COSM1268309 CA8430292	103	R>Q	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs558756856 CA288458530	107	S>C		No	ClinGen ExAC gnomAD
rs558756856 CA8430265	107	S>G		No	ExAC gnomAD ClinGen
rs773841300 CA8430264	109	N>D		No	ClinGen ExAC gnomAD
rs773841300 CA288458525	109	N>H		No	ClinGen ExAC gnomAD
CA8430262 rs762449376	111	L>V		No	ExAC gnomAD ClinGen
CA8430261 rs772932500	112	V>G		No	ExAC gnomAD ClinGen
rs369250015 CA8430260	113	L>F		No	ClinGen ESP ExAC gnomAD
rs1343711880 CA398641054	114	F>S		No	TOPMed ClinGen
CA398641023 rs1196039008	116	A>T		No	gnomAD ClinGen
CA288458489 rs957784971	117	E>G		No	TOPMed gnomAD ClinGen
CA8430258 rs776609143	118	I>S		No	ExAC gnomAD ClinGen
rs768700861 CA8430257	121	Y>H		No	ExAC gnomAD ClinGen
rs747010304 CA8430256	123	P>S		No	ExAC gnomAD ClinGen
CA8430255 rs780215195	126	F>C		No	ExAC gnomAD ClinGen
TCGA novel	129	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758516036 CA8430254	130	K>*		No	ExAC gnomAD ClinGen
rs758516036 CA398640801	130	K>E		No	ExAC gnomAD ClinGen
rs771174400 CA8430231	131	K>I		No	ExAC TOPMed gnomAD ClinGen
CA398640532 rs1555572011	131	K>N		No	ClinGen Ensembl
TCGA novel	131	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	134	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8430229 rs117400470	135	R>Q		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA398640481 rs1324484702	136	E>K		No	ClinGen TOPMed
CA398640458 rs1325685209	137	T>I		No	gnomAD ClinGen
rs753154927 CA8430227	138	R>C		No	ClinGen ExAC gnomAD
rs576988479 CA8430226	138	R>H		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA398640448 rs1308668806	139	Q>E		No	ClinGen TOPMed
CA398640374 rs1376635972	142	A>S		No	ClinGen gnomAD
CA398640380 rs1376635972	142	A>T		No	gnomAD ClinGen
rs764720598 CA8430223	142	A>V		No	ClinGen ExAC gnomAD
rs1247283089 CA398640347	144	V>A		No	ClinGen TOPMed
CA398640351 rs1406126659	144	V>L		No	ClinGen gnomAD
rs1355388511 CA398640339	145	I>V		No	TOPMed ClinGen
rs939558974 CA288457298	146	W>C		No	ClinGen TOPMed
rs763929308 CA8430220	149	C>R		No	ExAC gnomAD ClinGen
rs928224811 CA288457297	149	C>Y		No	TOPMed ClinGen
rs760575069 CA8430219	152	E>K		No	ClinGen ExAC gnomAD
TCGA novel	154	E>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772020353 CA8430217	154	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs924643292 CA398640038	156	I>M		No	ClinGen TOPMed gnomAD
CA398640022 rs1185292491	157	G>A		No	gnomAD ClinGen
CA398639977 rs1567750264	159	E>Q		No	Ensembl ClinGen
TCGA novel	160	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs138655866 CA8430215	161	I>M		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs374761934 CA8430211	163	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8430210 rs374761934	163	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1466644419 CA398639808	165	K>R		No	TOPMed ClinGen
rs773320076 CA8430193	168	K>M		No	ClinGen ExAC gnomAD
CA288456206 rs371443079	169	P>S		No	ESP TOPMed gnomAD ClinGen
CA8430192 rs769983124	170	N>D		No	ClinGen ExAC gnomAD
rs144079378 CA8430190	172	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA8430191 rs368048718	172	Q>L		No	ESP ExAC TOPMed gnomAD ClinGen
CA398638933 rs1461864990	173	V>E		No	TOPMed ClinGen
CA8430189 rs768913136	174	L>F		No	ClinGen ExAC gnomAD
rs1597982149 CA398638913	174	L>W		No	Ensembl ClinGen
CA398638905 rs1163645463	175	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA8430188 rs200654584	175	R>Q		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA8430186 rs200150335	177	R>*		No	ESP ExAC TOPMed gnomAD ClinGen
CA398638853 rs1567749012	177	R>Q		No	ClinGen Ensembl
rs1286846647 CA398638724	183	P>S		No	ClinGen TOPMed
rs779643752 CA288456188	184	H>R		No	ClinGen Ensembl
rs755827699 CA8430183 COSM182181	186	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs755827699 CA398638650	186	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1187161012 CA398638582	188	T>A		No	ClinGen gnomAD
rs1488037889 CA398638565	189	A>V		No	gnomAD ClinGen
CA398638527 rs1597982055	192	N>T		No	Ensembl ClinGen
rs752299423 CA8430182	193	L>V		No	ExAC TOPMed gnomAD ClinGen
CA398638501 rs1225014523	194	T>I		No	gnomAD ClinGen
CA8430178 rs766273577	195	E>D		No	ExAC gnomAD ClinGen
CA8430179 rs751475957	195	E>K		No	ExAC gnomAD ClinGen
CA8430176 rs773268292	199	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1405206275 CA398638346	202	D>G		No	ClinGen gnomAD
CA398638350 rs117856165	202	D>H		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
RCV000882058 CA8430174 rs117856165	202	D>N		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs1181170417 CA398638312	205	D>G		No	ClinGen TOPMed
rs377762117 CA8430173	206	V>M		No	ESP ExAC TOPMed gnomAD ClinGen
rs557164714 CA8430172	209	E>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	213	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1477499868 CA398638165	214	I>S		No	gnomAD ClinGen
CA8430152 rs775990204	216	A>G		No	ExAC gnomAD ClinGen
rs1450699865 CA398638113	216	A>S		No	ClinGen Ensembl
CA288456078 rs1039325534	217	A>V		No	TOPMed gnomAD ClinGen
CA8430150 rs760065838	218	F>S		No	ExAC gnomAD ClinGen
rs1433474205 CA398638050	222	Q>*		No	TOPMed ClinGen
rs1597981726 CA398638035	223	T>N		No	Ensembl ClinGen
rs1597981733 CA398638042	223	T>P		No	ClinGen Ensembl
CA398638028 rs1337371633	224	L>P		No	ClinGen gnomAD
rs769391918 CA8430148	225	R>Q		No	ClinGen ExAC gnomAD
CA398638023 rs1401586313	225	R>W		No	ClinGen gnomAD
rs1364496212 CA398638002	227	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	228	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA398637985 rs1597981672	229	I>F		No	ClinGen Ensembl
CA8430147 rs747580477	229	I>T		No	ExAC gnomAD ClinGen
rs1381198917 CA398637958	231	P>S		No	gnomAD ClinGen
CA398637951 rs1158399943	232	E>K		No	TOPMed gnomAD ClinGen
CA8430146 rs780803560	233	V>M		No	ExAC TOPMed gnomAD ClinGen
CA398637925 rs1597981637	234	L>R		No	ClinGen Ensembl
rs1424565141 CA398637924	235	A>S		No	ClinGen gnomAD
rs1441279459 CA398637885	239	I>T		No	gnomAD ClinGen
CA398637865 rs779765088	242	G>C		No	ExAC gnomAD ClinGen
CA8430143 rs779765088	242	G>S		No	ExAC gnomAD ClinGen
rs78919340 CA8430141	243	S>R		No	ExAC gnomAD ClinGen
CA398637858 rs1597981586	243	S>T		No	ClinGen Ensembl
rs1237665981 CA398637853	244	C>R		No	gnomAD ClinGen
rs1361412633 CA398637850	244	C>S		No	gnomAD ClinGen
CA8430137 rs764299514	250	G>D		No	ExAC TOPMed gnomAD ClinGen
CA398637794 rs1216354312	253	V>M		No	ClinGen TOPMed
CA8430135 rs752985378	255	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA288456024 rs781048036	255	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA8430133 rs760014876	256	F>L		No	ClinGen ExAC TOPMed gnomAD
rs373397917 CA288456002	265	E>Q		No	ClinGen ESP
rs1194941236 CA398637695	267	F>S		No	TOPMed ClinGen
CA398637649 rs1597981473	271	K>N		No	ClinGen Ensembl
rs1253310374 CA398637653	271	K>T		No	ClinGen TOPMed
CA8430130 rs369508573	272	V>L		No	ESP ExAC TOPMed gnomAD ClinGen
rs1250587002 CA398637570	274	H>Q		No	ClinGen gnomAD
rs763470301 CA8430109	274	H>R		No	ExAC gnomAD ClinGen
rs1242031381 CA398637577	274	H>Y		No	ClinGen TOPMed
CA398637538 rs1567748463	277	K>R		No	Ensembl ClinGen
rs1216916334 CA398637525	278	D>G		No	TOPMed gnomAD ClinGen
CA8430108 rs775029558	279	G>D		No	ExAC TOPMed gnomAD ClinGen
CA8430107 rs775029558	279	G>V		No	ClinGen ExAC TOPMed gnomAD
rs34430764 CA8430106	280	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA288455896 rs369254569	281	V>I		No	ESP TOPMed gnomAD ClinGen
TCGA novel	282	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs897556022 CA288455890	283	F>L		No	TOPMed gnomAD ClinGen
TCGA novel	284	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs545774510 CA288455887	285	W>*		No	1000Genomes gnomAD ClinGen
CA8430104 rs773948381	287	R>M		No	ClinGen ExAC gnomAD
rs770769662 CA8430103	289	R>L		No	ExAC gnomAD ClinGen
rs770769662 CA398637397	289	R>Q		No	ClinGen ExAC gnomAD
rs544579350 CA8430102	290	L>I		No	ExAC gnomAD ClinGen
CA288455870 rs147058247	293	H>Y		No	ESP TOPMed ClinGen
CA398637352 rs1179138250	294	T>A		No	ClinGen gnomAD
CA8430098 rs182958315	294	T>K		No	1000Genomes ExAC gnomAD ClinGen
CA8430099 rs182958315	294	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes ExAC gnomAD ClinGen NCI-TCGA
rs1396190238 CA398637283	299	L>V		No	ClinGen gnomAD
CA288455835 rs147929980	300	Y>*		No	ClinGen ESP
CA8430094 rs766595854	300	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA8430095 rs766595854	300	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA8430093 rs758819438	302	L>*		No	ClinGen ExAC gnomAD
CA398637198 rs750791525	303	C>*		No	ExAC TOPMed gnomAD ClinGen
rs1172915573 CA398637186	304	V>L		No	ClinGen TOPMed
CA398637164 rs1463724251	305	E>D		No	ClinGen gnomAD
CA8430091 rs765752207	305	E>V		No	ExAC gnomAD ClinGen
rs1178443498 CA398636221	306	D>N		No	TOPMed ClinGen
CA398636170 rs200477612	308	M>L		No	ClinGen TOPMed
rs773055260 CA8430066	308	M>T		No	ClinGen ExAC gnomAD
rs200477612 CA288454502	308	M>V		No	ClinGen TOPMed
rs769716345 CA8430065	309	A>T		No	ExAC gnomAD ClinGen
rs1196594011 CA398636128	309	A>V		No	ClinGen TOPMed gnomAD
rs776131880 CA288454491	310	T>A		No	gnomAD ClinGen
rs776733495 CA8430063	312	V>I		No	ExAC gnomAD ClinGen
rs768752057 CA8430062	314	V>I		No	ExAC TOPMed gnomAD ClinGen
rs368476765 CA8430061	316	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs780054784 CA8430060	317	K>N		No	ExAC ClinGen
CA398635842 rs1488142343	319	K>*		No	ClinGen gnomAD
CA398635840 rs1164596735	319	K>R		No	ClinGen TOPMed
rs1555571388 CA398635828	320	S>G		No	ClinGen Ensembl
CA8430059 rs772333291	322	W>R		No	ClinGen ExAC gnomAD
CA398635755 rs1312703471	323	R>Q		No	gnomAD ClinGen
TCGA novel	324	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	324	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8430057 rs779186864	326	A>V		No	ExAC gnomAD ClinGen
rs754300515 CA8430055	328	D>Y		No	ExAC gnomAD ClinGen
rs778225379 CA8430054	329	T>A		No	ClinGen ExAC gnomAD
CA8430053 rs756631765	330	V>L		No	ExAC gnomAD ClinGen
CA288452348 rs376084711	334	K>R		No	ClinGen ESP TOPMed gnomAD
rs757027158 CA8430028	336	A>P		No	ExAC gnomAD ClinGen
CA8430026 rs763986208	338	R>*		No	ClinGen ExAC TOPMed gnomAD
CA8430025 rs145416998	338	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC ClinGen NCI-TCGA
rs149870245 CA8430024	341	R>K		No	ESP ExAC TOPMed gnomAD ClinGen
rs1567743713 CA398634754	342	I>L		No	ClinGen Ensembl
CA398634750 rs1242121491	342	I>M		No	gnomAD ClinGen
rs1401508949 CA398634729	344	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA288452300 rs890217087	350	I>V		No	ClinGen Ensembl
rs759500573 CA8430021	351	A>T		No	ClinGen ExAC gnomAD
rs1466769474 CA398634572	354	L>H		No	ClinGen gnomAD
CA398634562 rs1377323045	355	Y>C		No	gnomAD ClinGen
rs202043817 CA8430003	360	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1238597172 CA398633809	363	P>L		No	ClinGen gnomAD
CA398633777 rs1400932742	364	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
rs1488464015 CA398633752	365	T>I		No	ClinGen gnomAD
rs774410894 CA8430002	365	T>S		No	ClinGen ExAC gnomAD
CA398633713 rs1285078923	368	N>D		No	gnomAD ClinGen
CA8430001 rs543070592	368	N>S		No	1000Genomes ExAC gnomAD ClinGen
rs1266020530 CA398633620	372	R>G		No	ClinGen gnomAD
CA288451583 rs913090334	373	D>N		No	ClinGen Ensembl
COSM976287 CA8429999 rs763108801	377	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA398633506 rs1341407664	378	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA8429997 rs770158312	383	Q>R		No	ExAC gnomAD ClinGen
CA8429996 rs139068958	385	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1980561227 RCV001311482	386	D>missing		No	ClinVar dbSNP
CA8429994 rs769035726	386	D>N		No	ClinGen ExAC TOPMed gnomAD
rs747519345 CA8429993	387	P>A		No	ExAC TOPMed gnomAD ClinGen
rs778504793 CA8429992	388	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8429991 rs770586187 COSM704808	388	R>H	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA398633322 rs770586187	388	R>P		No	ExAC gnomAD ClinGen
rs748907580 CA8429990	389	W>*		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	391	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8429988 rs755837172	391	A>V		No	ExAC gnomAD ClinGen
rs546601023 CA288451545	393	A>S		No	TOPMed ClinGen
rs529651014 CA8429987	395	S>R		No	ClinGen 1000Genomes ExAC gnomAD
CA398633165 rs1209191069	396	I>M		No	gnomAD ClinGen
rs140080915 CA8429984	399	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs61756259 CA8429985	399	R>W		No	ClinGen ExAC TOPMed gnomAD
rs146192054 CA8429982	400	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs766400576 CA8429983	400	G>S		No	ExAC gnomAD ClinGen
COSM704809 CA8429980 rs765361178	401	G>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA8429979 rs762158334	402	P>S		No	ExAC gnomAD ClinGen
rs76300532 CA8429977	405	R>C		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1172161121 CA398633043	405	R>H	Variant assessed as Somatic; 4.633e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA398633045 rs76300532	405	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761215185 CA8429976	406	N>S		No	ExAC gnomAD ClinGen
rs572230077 CA288451511	416	P>A		No	ClinGen 1000Genomes
rs1422463338 CA398632836	420	T>A		No	gnomAD ClinGen
CA288451508 rs139890510	420	T>I		No	ESP TOPMed ClinGen
CA8429974 rs772744962	421	K>R		No	ClinGen ExAC gnomAD
CA8429972 rs777401390	422	Y>*		No	ExAC gnomAD ClinGen
rs748782837 CA8429973	422	Y>H		No	ClinGen ExAC gnomAD
rs769328102 CA8429971	425	N>D		No	ExAC gnomAD ClinGen
rs747842421 CA8429970	425	N>S		No	ClinGen ExAC gnomAD
CA8429969 rs780792704	426	L>V		No	ExAC TOPMed gnomAD ClinGen
CA398632730 rs1356386760	427	Q>*		No	ClinGen TOPMed
rs1458278374 CA398632728	427	Q>R		No	gnomAD ClinGen
CA8429949 rs746786813	429	D>G		No	ExAC gnomAD ClinGen
rs917907940 CA288450551	431	Q>H		No	TOPMed ClinGen
CA398632065 rs1361295630	431	Q>R		No	ClinGen TOPMed
CA398632060 rs1432573544	432	R>*		No	gnomAD ClinGen
CA398632059 rs1362247193 COSM182175	432	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs778804656 CA8429945	435	E>G		No	ExAC gnomAD ClinGen
rs745827575 CA8429946	435	E>K		No	ExAC gnomAD ClinGen
rs200538529 CA8429944	436	F>L		No	ClinGen ExAC TOPMed gnomAD
CA398631996 rs1187514419	439	R>H		No	ClinGen TOPMed gnomAD
rs1187514419 CA398631995	439	R>P		No	TOPMed gnomAD ClinGen
TCGA novel	439	R>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1238198584 CA398631997	439	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA398631999 rs1238198584	439	R>S		No	TOPMed gnomAD ClinGen
rs1288563236 CA398631988	440	H>R		No	gnomAD ClinGen
rs756460846 CA8429941	443	A>S		No	ClinGen ExAC TOPMed gnomAD
CA288450518 rs934792395	444	C>S		No	gnomAD ClinGen
rs753108452 CA8429940	445	C>R		No	ExAC gnomAD ClinGen
rs760951766 CA8429939	445	C>S		No	ExAC TOPMed gnomAD ClinGen
CA398631915 rs1292243200	447	Q>R		No	gnomAD ClinGen
CA398631882 rs1422082578	450	Q>H		No	TOPMed ClinGen
rs1345087155 CA398631873	451	G>A		No	TOPMed ClinGen
CA8429937 rs535654822	452	Q>R		No	1000Genomes ExAC gnomAD ClinGen
CA398631859 rs1428783578	453	E>K		No	ClinGen TOPMed
CA398631831 rs1166835508	455	T>I		No	ClinGen gnomAD
CA398631839 rs1343358677	455	T>P		No	ClinGen gnomAD
TCGA novel	457	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA398631801 rs764617011	458	I>M		No	ClinGen ExAC TOPMed gnomAD
rs920959052 CA288450485	459	D>G		No	ClinGen TOPMed
CA8429934 rs28671051 VAR_052588	459	D>N		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs141787612 CA8429933	460	I>V		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA8429931 rs61753153	461	A>S		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
RCV000957428 rs61753153 CA8429930	461	A>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8429929 rs771920089	463	E>D		No	ClinGen ExAC gnomAD
rs778878590 CA8429927	464	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8429928 rs778878590	464	R>G		No	ExAC TOPMed gnomAD ClinGen
CA398631745 rs982642604	464	R>H		No	ClinGen TOPMed gnomAD
CA288450446 rs982642604	464	R>L		No	ClinGen TOPMed gnomAD
rs551286682 CA288450435	465	F>L		No	ClinGen Ensembl
rs1230973057 CA398631729	466	V>E		No	gnomAD ClinGen
CA288450432 rs902133190	466	V>M		No	ClinGen TOPMed gnomAD
TCGA novel	467	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1284020719 CA398631712	468	H>R		No	ClinGen TOPMed gnomAD
CA288450415 rs1018621310	469	G>D		No	TOPMed gnomAD ClinGen
CA8429925 rs749373321	470	L>F		No	ExAC gnomAD ClinGen
CA8429924 rs778063670	471	M>V		No	ClinGen ExAC gnomAD
CA398631650 rs756340335	475	R>*		No	ExAC TOPMed gnomAD ClinGen
rs144590444 CA8429922 COSM559970	475	R>Q	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ESP ExAC gnomAD ClinGen cosmic curated NCI-TCGA
CA398631609 rs1460004885	479	D>G		No	ClinGen gnomAD
rs1226891194 CA398631600	480	V>A		No	TOPMed gnomAD ClinGen
rs751913058 CA8429919	480	V>M		No	ExAC TOPMed gnomAD ClinGen
rs766890387 CA8429918	481	Y>F		No	ClinGen ExAC gnomAD
CA398631587 rs1381813142	482	P>A		No	gnomAD ClinGen
CA288450389 rs995454076	482	P>L		No	Ensembl ClinGen
CA8429915 rs772204679	483	Y>*		No	ClinGen ExAC gnomAD
CA8429914 rs763605074	484	D>N		No	ExAC TOPMed gnomAD ClinGen
CA398631535 rs1285538297	486	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1489078167 CA398631521	487	S>I		No	gnomAD ClinGen
rs1229901127 CA398631528	487	S>R		No	TOPMed ClinGen
CA398631513 rs1252983745	488	D>H		No	ClinGen gnomAD
rs1448344247 CA398631501	489	K>R		No	ClinGen gnomAD
TCGA novel	491	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs984876905 CA288450147	492	P>L		No	TOPMed ClinGen
rs748220438 CA8429887	492	P>S		No	ClinGen ExAC gnomAD
CA398631428 rs1364929234	493	V>A		No	gnomAD ClinGen
rs781189773 CA8429885	493	V>L		No	ExAC gnomAD ClinGen
rs138286093 CA8429883	494	Y>C		No	ESP ExAC TOPMed gnomAD ClinGen
rs868098455 CA288450094	495	E>K		No	ClinGen gnomAD
CA398631382 rs1323841262	497	G>E		No	TOPMed gnomAD ClinGen
rs780415014 CA8429882	497	G>R		No	ExAC gnomAD ClinGen
CA398631378 rs1218587177	498	S>P		No	TOPMed gnomAD ClinGen
rs1218587177 CA398631380	498	S>T		No	TOPMed gnomAD ClinGen
rs147048688 CA8429880	499	H>P		No	ESP ExAC TOPMed gnomAD ClinGen
CA8429878 rs757819176	499	H>Q		No	ExAC gnomAD ClinGen
CA8429877 rs752197968	500	F>C		No	ExAC gnomAD ClinGen
TCGA novel	500	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA398631348 rs752197968	500	F>Y		No	ClinGen ExAC gnomAD
rs766939974 CA8429876	501	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA398631337 rs766939974	501	Q>E		No	ExAC TOPMed gnomAD ClinGen
CA398631328 rs1315046772	501	Q>R		No	gnomAD ClinGen
TCGA novel	502	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759172231 CA288450038	503	S>N		No	ClinGen ExAC TOPMed gnomAD
rs370346946 CA398631271	503	S>R		No	ESP ExAC TOPMed gnomAD ClinGen
CA8429875 rs759172231	503	S>T		No	ExAC TOPMed gnomAD ClinGen
rs766158237 CA398631249	505	V>L		No	ExAC TOPMed gnomAD ClinGen
CA8429873 rs766158237	505	V>M		No	ClinGen ExAC TOPMed gnomAD
CA398631227 rs1485638916	506	E>D		No	TOPMed ClinGen
CA8429872 rs762812090	508	V>M		No	ClinGen ExAC TOPMed gnomAD
rs765257578 CA8429870	510	G>R		No	ExAC TOPMed gnomAD ClinGen
CA398631151 rs1192531638	511	E>A		No	TOPMed ClinGen
rs1474661696 CA398631130	512	T>I		No	TOPMed gnomAD ClinGen
rs1474661696 CA398631132	512	T>S		No	ClinGen TOPMed gnomAD
CA8429868 rs776709304	513	S>I		No	ClinGen ExAC gnomAD
rs1479127811 CA398631099	514	P>A		No	ClinGen TOPMed
CA8429867 rs747211857	515	P>L		No	ClinGen ExAC gnomAD
CA8429866 rs747211857	515	P>R		No	ClinGen ExAC gnomAD
CA398631089 rs1174040033	515	P>T		No	TOPMed ClinGen
CA398631026 rs1394193659	519	T>S		No	TOPMed ClinGen
CA8429863 rs367956874	520	E>K		No	ClinGen ESP ExAC gnomAD
rs1334426011 CA398630972	522	D>G		No	ClinGen gnomAD
rs1234032546 CA398630982	522	D>N		No	TOPMed gnomAD ClinGen
CA398630958 rs1381210958	523	L>V		No	ClinGen TOPMed
rs1315605293 CA398630923	525	A>S		No	TOPMed ClinGen
CA8429861 rs757692521	526	L>F		No	ExAC TOPMed gnomAD ClinGen
rs1008242131 CA288449981	527	M>I		No	TOPMed ClinGen
rs1347555903 CA398630739	530	H>R		No	TOPMed ClinGen
CA398629640 rs1247647466	534	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
rs749764762 CA8429842	536	A>V		No	ClinGen ExAC gnomAD
rs756694780 CA288446601	538	H>D		No	ClinGen ExAC gnomAD
rs756694780 CA8429840	538	H>Y		No	ExAC gnomAD ClinGen
COSM976285 CA8429838 rs779781833	539	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ExAC gnomAD ClinGen cosmic curated NCI-TCGA
rs1194367440 CA398629552	540	E>*		No	ClinGen gnomAD
CA398629529 rs1281613045	541	H>D		No	ClinGen gnomAD
rs1597962210 CA398629519	541	H>L		No	ClinGen Ensembl
TCGA novel	541	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777874588 CA398629497	542	I>M		No	ClinGen TOPMed gnomAD
rs765081954 CA8429835	542	I>V		No	ExAC gnomAD ClinGen
rs1217393329 CA398629470	544	T>P		No	gnomAD ClinGen
CA288446530 rs1005860888	545	I>M		No	TOPMed ClinGen
COSM120023 rs151096656 CA8429832	548	R>Q	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs753712199 CA8429833	548	R>W		No	ExAC gnomAD ClinGen
rs752652880 CA8429830	549	M>I		No	ExAC TOPMed gnomAD ClinGen
CA8429829 rs759705124	550	Y>*		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	550	Y>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1047455569 CA398629356	551	V>L		No	ClinGen TOPMed gnomAD
rs1047455569 CA288446492	551	V>M		No	TOPMed gnomAD ClinGen
CA8429827 rs774588343	554	T>N		No	ExAC TOPMed gnomAD ClinGen
CA398629282 rs35927440	556	D>N		No	ClinGen TOPMed gnomAD
rs771185283 CA8429826	556	D>V		No	ExAC gnomAD ClinGen
CA288446473 rs35927440	556	D>Y		No	ClinGen TOPMed gnomAD
rs773685208 CA8429824	558	R>Q		No	ExAC gnomAD ClinGen
CA8429825 rs377076547 COSM182171	558	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ESP ExAC gnomAD ClinGen cosmic curated NCI-TCGA
TCGA novel	560	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA398629195 rs1258620729	561	P>L		No	ClinGen TOPMed gnomAD
rs1369721951 CA398629199	561	P>S		No	ClinGen gnomAD
rs770200952 CA8429822	562	G>E		No	ExAC TOPMed gnomAD ClinGen
rs529652900 CA8429821	563	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA398629168 rs1287038213	563	H>R		No	ClinGen gnomAD
rs779655421 CA8429820	566	M>T		No	ExAC gnomAD ClinGen
rs771736565 CA8429819	568	L>F		No	ExAC gnomAD ClinGen
CA8429818 rs745409293	568	L>P		No	ExAC gnomAD ClinGen
CA398629054 rs1312031662	569	V>G		No	ClinGen gnomAD
CA398629067 rs1456358908	569	V>M		No	ClinGen TOPMed
CA288446316 rs752529340	571	G>A		No	ClinGen ExAC TOPMed gnomAD
rs756987948 CA8429816	571	G>S		No	ExAC TOPMed gnomAD ClinGen
rs752529340 CA8429794	571	G>V		No	ExAC TOPMed gnomAD ClinGen
CA8429791 rs751635603	575	M>I		No	ClinGen ExAC gnomAD
rs372121045 CA8429793	575	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8429790 rs143808897	578	E>A		No	ESP ExAC TOPMed gnomAD ClinGen
CA398628904 rs1279156052	579	M>I		No	ClinGen TOPMed
CA398628913 rs1475365637	579	M>V		No	gnomAD ClinGen
CA398628890 rs1240930558	581	K>R		No	ClinGen TOPMed gnomAD
CA8429789 rs758493407	582	P>S		No	ClinGen ExAC gnomAD
CA8429788 rs34001746 RCV000969824	584	L>R		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs1211476802 CA398628867	585	R>Q		No	gnomAD ClinGen
CA8429787 rs765482572	585	R>W		No	ExAC TOPMed gnomAD ClinGen
rs146664233 CA8429786	587	E>Q		No	ESP ExAC TOPMed gnomAD ClinGen
VAR_007529	596	C>Y		No	UniProt
CA288446274 rs773939513	597	D>G		No	ClinGen ExAC TOPMed gnomAD
CA8429782 rs773939513	597	D>V		No	ClinGen ExAC TOPMed gnomAD
rs772890659 CA8429779	599	K>N		No	ClinGen ExAC gnomAD
CA8429780 rs748851618	599	K>R		No	ClinGen ExAC
rs769381240 CA8429778	602	K>R		No	ClinGen ExAC gnomAD
rs776115581 CA8429777	604	V>A		No	ExAC TOPMed gnomAD ClinGen
rs1362491425 CA398628679	605	V>I		No	TOPMed ClinGen
rs1207334774 CA398628645	608	Q>*		No	gnomAD ClinGen
CA398628623 rs1428294968	610	V>M		No	gnomAD ClinGen
CA8429774 rs746965818	611	Q>R		No	ExAC gnomAD ClinGen
TCGA novel	613	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779952792 CA8429773	613	Y>H		No	ClinGen ExAC gnomAD
rs758540697 CA8429772	618	I>T		No	ExAC TOPMed gnomAD ClinGen
rs750514439 COSM704811 CA8429771	620	A>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA8429769 rs757617285	621	V>M		No	ClinGen ExAC gnomAD
rs543109098 CA8429768	622	A>T		No	1000Genomes ExAC gnomAD ClinGen
TCGA novel	623	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8429767 rs764565096	625	K>N		No	ClinGen ExAC gnomAD
CA8429754 rs745953667	626	K>N		No	ExAC gnomAD ClinGen
CA398628196 rs1171352228	628	D>G		No	gnomAD ClinGen
CA8429752 rs139844084	629	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8429751 rs754132499	630	A>G		No	ClinGen ExAC TOPMed gnomAD
CA8429750 rs778243201	631	L>V		No	ClinGen ExAC gnomAD
rs775904532 CA288442812	633	Q>R		No	gnomAD ClinGen
rs756515968 CA8429749	639	T>I		No	ClinGen ExAC TOPMed gnomAD
CA8429747 rs768055924	642	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs962724544 CA288442785	644	Q>R		No	ClinGen Ensembl
CA398628073 rs1355249953	646	D>G		No	gnomAD ClinGen
rs749882877 CA8429745	646	D>N		No	ExAC gnomAD ClinGen
CA398628058 rs1174960140	647	I>T		No	ClinGen Ensembl
rs764743682 CA8429744	648	Y>S		No	ClinGen ExAC gnomAD
rs566688449 CA8429743	649	P>A		No	1000Genomes ExAC gnomAD ClinGen
rs144955367 CA8429742	650	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1287776997 CA398628030	650	A>P		No	gnomAD ClinGen
rs990998218 CA398628002	652	P>S		No	ClinGen TOPMed gnomAD
CA288442729 rs990998218	652	P>T		No	ClinGen TOPMed gnomAD
rs768341205 CA8429741	653	E>Q		No	ClinGen ExAC gnomAD
rs1195127047 CA398627979	654	P>T		No	ClinGen gnomAD
TCGA novel	655	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA398627939 rs145321967	656	R>S		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA398627934 rs1382540769	657	K>*		No	ClinGen gnomAD
CA398627918 rs1179727459	658	C>Y		No	ClinGen gnomAD
CA8429737 rs745804387	660	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA288442691 rs761294216	661	C>G		No	Ensembl ClinGen
CA398627859 rs190965482	662	N>K		No	1000Genomes gnomAD ClinGen
CA8429736 rs779085553	663	K>T		No	ExAC TOPMed gnomAD ClinGen
CA398627840 rs1230163538	664	D>N		No	ClinGen gnomAD
CA398627782 rs1280468544	668	K>T		No	TOPMed gnomAD ClinGen
rs185423024 CA8429735	669	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8429733 rs367717633	674	G>R		No	ExAC TOPMed gnomAD ClinGen
CA8429710 rs780521684	676	Y>*		No	ExAC gnomAD ClinGen
CA288441449 rs369169728	676	Y>H		No	ClinGen ESP
CA8429711 rs747444823	676	Y>S		No	ExAC gnomAD ClinGen
rs1350681522 CA398626985	678	S>N		No	gnomAD ClinGen
rs1350681522 CA398626984	678	S>T		No	ClinGen gnomAD
rs753275297 CA8429708	679	C>S		No	ExAC gnomAD ClinGen
rs1218072824 CA398626970	679	C>Y		No	ClinGen gnomAD
rs763605138 CA398626958	680	M>L		No	ClinGen ExAC TOPMed gnomAD
rs763605138 CA8429707	680	M>V		No	ExAC TOPMed gnomAD ClinGen
rs1280888744 CA398626919	682	F>S		No	gnomAD ClinGen
CA8429706 rs376624260	686	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1253634770 CA398626840	687	S>L		No	ClinGen TOPMed
CA8429703 rs759228569	689	V>L		No	ExAC gnomAD ClinGen
CA8429701 rs766415657	690	W>C		No	ExAC gnomAD ClinGen
rs1423108101 CA398626771	691	L>P		No	gnomAD ClinGen
rs1423108101 CA398626768	691	L>R		No	gnomAD ClinGen
TCGA novel	693	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762989083 CA8429700	694	S>L		No	ClinGen ExAC gnomAD
rs1597956747 CA398626700	695	V>G		No	ClinGen Ensembl
CA398626689 rs1181362298	696	L>P		No	TOPMed ClinGen
rs1597956725 CA398626676	697	E>G		No	Ensembl ClinGen
CA8429697 rs748364139	698	A>D		No	ExAC TOPMed gnomAD ClinGen
rs748364139 CA398626660	698	A>G		No	ExAC TOPMed gnomAD ClinGen
rs1258775510 CA398626656	699	S>G		No	ClinGen gnomAD
TCGA novel	699	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1597956695 CA398626608	701	D>G		No	Ensembl ClinGen
CA8429695 rs768975718	703	S>R		No	ClinGen ExAC gnomAD
rs747364705 CA8429694	704	V>M		No	ExAC gnomAD ClinGen
CA8429693 rs780397248	706	P>L		No	ExAC TOPMed gnomAD ClinGen
CA288441366 rs780397248	706	P>R		No	ExAC TOPMed gnomAD ClinGen
rs1473483013 CA398626516	706	P>S		No	TOPMed ClinGen
CA288441358 rs750006328	707	V>L		No	Ensembl ClinGen
CA398626453 rs980843462	710	P>S		No	TOPMed ClinGen
CA288441352 rs980843462	710	P>T		No	ClinGen TOPMed
rs1597956630 CA398626435	711	H>P		No	ClinGen Ensembl
rs758840850 CA8429691	711	H>Y		No	ExAC gnomAD ClinGen
CA398626427 rs1283419306	712	P>T		No	gnomAD ClinGen
CA8429689 rs777296235	713	V>L		No	ExAC TOPMed gnomAD ClinGen
CA288441337 rs777296235	713	V>M		No	ClinGen ExAC TOPMed gnomAD
rs775780245 CA8429675	717	K>N		No	ExAC TOPMed gnomAD ClinGen
rs139139309 CA8429676	717	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8429673 rs772454260	720	F>L		No	ExAC gnomAD ClinGen
rs746269633 CA8429672	720	F>L		No	ClinGen ExAC gnomAD
rs200281269 CA8429671	722	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs373960588 CA8429667	723	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA8429668 rs201428468	723	G>S		No	ExAC gnomAD ClinGen
rs751280980 CA8429666	727	P>L		No	ExAC gnomAD ClinGen
rs1422208703 CA398625290	728	T>I		No	ClinGen gnomAD
CA8429663 rs750295318	729	M>T		No	ExAC gnomAD ClinGen
rs142891153 CA8429664	729	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765076712 CA8429662	730	P>L		No	ClinGen ExAC gnomAD
CA8429660 rs369419525	733	F>S		No	ESP ExAC TOPMed gnomAD ClinGen
CA8429659 rs764252816	735	C>R		No	ClinGen ExAC gnomAD
rs764252816 CA398625207	735	C>S		No	ExAC gnomAD ClinGen
rs1309064932 CA398625192	736	C>R		No	ClinGen gnomAD
CA398625187 rs756965855	736	C>S		No	ClinGen TOPMed gnomAD
CA288440233 rs756965855	736	C>Y		No	TOPMed gnomAD ClinGen
rs760843813 CA8429658	737	I>V		No	ClinGen ExAC gnomAD
rs772328041 CA8429656	738	G>S		No	ClinGen ExAC TOPMed gnomAD
CA8429654 rs147447113	739	G>R		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs143020273 CA8429653	739	G>V		No	ESP ExAC TOPMed gnomAD ClinGen
rs1356609651 CA398625130	740	C>R		No	ClinGen gnomAD
CA8429648 rs9909732 VAR_052589	742	D>N		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA398625071 rs1597954388	743	T>P		No	Ensembl ClinGen
rs143277175 CA8429647	743	T>S		No	ESP ExAC TOPMed gnomAD ClinGen
rs564388683 CA8429645	744	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
TCGA novel	746	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757090766 CA8429644	746	E>K		No	ExAC gnomAD ClinGen
CA398625008 rs1425086647	747	I>V		No	ClinGen Ensembl
rs764056770 CA8429642	749	D>H		No	ExAC TOPMed gnomAD ClinGen
rs1282392235 CA398624967	751	R>K		No	ClinGen gnomAD
CA8429638 rs759758444	755	G>A	Variant assessed as Somatic; 5.083e-05 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA398624940 rs759758444	755	G>D		No	ClinGen ExAC TOPMed gnomAD
CA8429639 rs767721350	755	G>R		No	ClinGen ExAC gnomAD
rs766790202 CA8429637	756	P>S		No	ExAC TOPMed gnomAD ClinGen
rs766790202 CA8429636	756	P>T		No	ClinGen ExAC TOPMed gnomAD
rs763331156 CA8429635	757	P>A		No	ExAC TOPMed gnomAD ClinGen
CA398624927 rs149596894	757	P>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8429634 rs149596894	757	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs752838075	758	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs527777765 CA8429631	759	A>V		No	ExAC TOPMed gnomAD ClinGen
rs775211057 CA8429630	760	S>R		No	ExAC TOPMed gnomAD ClinGen
CA398624858 rs1364553723	761	Q>E		No	TOPMed ClinGen
rs745553460 CA8429628	763	S>F		No	ExAC gnomAD ClinGen
rs369780261 CA288439989	763	S>P		No	ClinGen Ensembl
CA8429627 rs778544832	765	R>C		No	ClinGen ExAC gnomAD
rs757039121 CA8429626 COSM3421326	765	R>H	large_intestine Variant assessed as Somatic; 9.34e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs757039121 CA288439969	765	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8429623 rs756051499	767	Q>H		No	ExAC gnomAD ClinGen
CA8429624 rs777631654	767	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA398624762 rs1482913600	768	A>T		No	ClinGen gnomAD
rs1292507078 CA398624713	771	S>Y		No	ClinGen TOPMed
rs755132432 CA8429620	772	L>P		No	ExAC gnomAD ClinGen
CA8429621 rs372360037	772	L>V		No	ClinGen ESP ExAC gnomAD
CA8429618 rs145842568	773	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA398624633 rs1597954159	777	N>T		No	Ensembl ClinGen
rs973503519 CA288439925	778	S>T		No	TOPMed ClinGen
CA398624583 rs1402191859	780	H>P		No	ClinGen TOPMed gnomAD
CA398624580 rs1402191859	780	H>R		No	TOPMed gnomAD ClinGen
CA398624565 rs1567733890	781	P>R		No	ClinGen Ensembl
rs1334761226 CA398624561	782	Q>E		No	ClinGen TOPMed
rs1451018189 CA398624555	782	Q>P		No	ClinGen TOPMed gnomAD
rs1454899726 CA398624521	784	A>V		No	gnomAD ClinGen
CA398624509 rs1388845293	785	D>G		No	gnomAD ClinGen
rs1158003078 CA398624497	786	S>G		No	ClinGen gnomAD
rs963512235 CA288439924	787	R>G		No	ClinGen Ensembl
CA398624462 rs1471428061	788	Q>*		No	ClinGen gnomAD
rs1188067307 CA398624422	790	G>E		No	ClinGen gnomAD
CA8429617 rs763326528	790	G>R		No	ClinGen ExAC gnomAD
CA398624377 rs1180128371	794	A>P		No	gnomAD ClinGen
rs1466325016 CA398624363	795	L>P		No	gnomAD ClinGen
rs1466325016 CA398624365	795	L>Q		No	gnomAD ClinGen
rs572424841 CA8429614	796	A>P		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs572424841 CA398624355	796	A>T		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1208315542 CA398624346	796	A>V		No	ClinGen gnomAD
CA398624324 rs1597954037	798	T>P		No	Ensembl ClinGen
rs1327408527 CA398624320	798	T>S		No	ClinGen gnomAD
rs1597954028 CA398624314	799	L>F		No	ClinGen Ensembl
CA8429612 rs762472461	800	P>S		No	ExAC gnomAD ClinGen
CA8429610 rs201017469	802	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8429611 rs775121353	802	P>S		No	ExAC gnomAD ClinGen
CA8429608 rs774009141	803	T>M		No	ClinGen ExAC gnomAD
rs374090350 CA8429606	805	A>T		No	ESP ExAC TOPMed gnomAD ClinGen
TCGA novel	805	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA398624252 rs1396308342	806	G>S		No	ClinGen TOPMed gnomAD
rs372337258 CA288439821	807	E>G		No	ClinGen ESP TOPMed
CA398624245 rs1163557781	807	E>K		No	gnomAD ClinGen
CA398624213 rs1366593444	809	N>S		No	gnomAD ClinGen
TCGA novel	810	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA288439812 rs1035734867	810	S>Y		No	ClinGen Ensembl
rs200544757 CA8429604	812	T>A		No	ClinGen ExAC gnomAD
rs138626975 CA8429603	812	T>I		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
TCGA novel	814	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA398624117 rs1386859326	818	E>Q		No	TOPMed ClinGen
rs755043610 CA398624104 COSM1324124	819	A>S	ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs755043610 CA8429601	819	A>T		No	ExAC TOPMed gnomAD ClinGen
CA398624091 rs1597953893	820	V>G		No	Ensembl ClinGen
rs568424406 CA288439752	820	V>L		No	ExAC TOPMed ClinGen
rs568424406 CA8429600	820	V>M		No	ExAC TOPMed ClinGen
CA8429599 rs766563194	823	T>A		No	ExAC ClinGen
CA288439726 rs868120765	823	T>I		No	Ensembl ClinGen
rs750810110 CA8429597	824	V>F		No	ExAC gnomAD ClinGen
rs762382567 CA8429595	825	R>C		No	ExAC TOPMed gnomAD ClinGen
rs368431834 CA8429594	825	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA398624044 rs1432269644	826	K>E		No	ClinGen gnomAD
CA288439696 rs746938084	827	E>G		No	Ensembl ClinGen
CA8429593 rs764535004	828	G>C		No	ClinGen ExAC gnomAD
CA8429592 rs759031206	829	P>S		No	ExAC gnomAD ClinGen
rs538053478 CA8429591	830	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	830	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762571378 CA8429589	831	R>Q		No	ExAC TOPMed ClinGen
rs770614115 CA8429590	831	R>W		No	ExAC TOPMed gnomAD ClinGen
rs368210504 CA8429586	833	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs368210504 COSM297783 CA8429587	833	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs374011155 COSM1381329 CA8429588	833	R>W	large_intestine Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA398623936 CA398623934 rs1167971278	836	F>L		No	TOPMed gnomAD ClinGen
rs1320375028 CA398623931	837	K>Q		No	ClinGen TOPMed
rs1442030438 CA398623913	838	C>F		No	ClinGen gnomAD
COSM976284 rs144665877 CA8429584	840	G>R	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA398623882 rs1451297736	841	G>D		No	ClinGen TOPMed gnomAD
CA8429582 rs751450540	843	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA8429580 rs144577827	844	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1181024395 CA398623811	846	F>V		No	TOPMed ClinGen
CA8429577 rs140822628	850	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA398623746 rs1274970635	851	S>G		No	gnomAD ClinGen
rs1232051842 CA398623726	852	P>L		No	gnomAD ClinGen
rs1430170541 CA398623724	853	N>D		No	ClinGen TOPMed
rs201942380 CA8429575	853	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150940456 CA8429572	854	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs145407600 CA8429573 COSM106479	854	P>S	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	855	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8429570 rs772811336	855	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA8429569 rs769457754	858	G>E		No	ClinGen ExAC gnomAD
rs761536752 CA8429568	859	P>L		No	ClinGen ExAC gnomAD
rs1477817990 CA398623614	861	A>V		No	ClinGen gnomAD
CA398623589 rs1567733529	863	A>P		No	ClinGen Ensembl
CA398623582 rs1555568077	863	A>V		No	ClinGen Ensembl
CA288439504 rs868142043	864	Y>C		No	ClinGen Ensembl
CA398623567 rs1251675542	865	R>G		No	ClinGen TOPMed gnomAD
rs1203590645 CA398623561	865	R>T		No	ClinGen TOPMed gnomAD
CA8429566 rs768630655	866	P>L		No	ClinGen ExAC TOPMed gnomAD
CA288439485 rs371289480	866	P>T		No	ClinGen ESP
TCGA novel	867	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8429564 rs780155629	868	G>S		No	ExAC TOPMed gnomAD ClinGen
rs377760887 CA8429562	869	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA8429561 rs377760887	869	A>T		No	ESP ExAC TOPMed gnomAD ClinGen
CA8429560 rs757560156	870	S>F		No	ClinGen ExAC TOPMed gnomAD
CA8429559 rs374845608	871	L>V		No	ESP ExAC TOPMed gnomAD ClinGen
rs1324450572 CA398623496	872	G>R		No	TOPMed ClinGen
rs1209175511 CA398623472	874	P>S		No	ClinGen TOPMed
rs370390988 CA8429556	875	P>A		No	ESP ExAC TOPMed gnomAD ClinGen
rs370390988 CA8429555	875	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1161685644 CA398623436 COSM233628	877	P>L	skin [Cosmic]	No	gnomAD ClinGen cosmic curated
CA398623417 rs1411665755	879	I>T		No	ClinGen gnomAD
CA398623395 rs1238561127	881	L>V		No	ClinGen TOPMed gnomAD
rs533111555 CA288439333	884	F>S		No	ClinGen 1000Genomes gnomAD
rs761518104 CA8429549	885	G>R		No	ExAC gnomAD ClinGen
CA8429547 rs763839815	886	N>K		No	ExAC gnomAD ClinGen
rs564452009 CA8429548	886	N>S		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs369683656 CA8429546	887	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8429545 rs544471583	888	G>D		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs772151840 CA8429543	889	D>G		No	ExAC gnomAD ClinGen
rs745879100 CA8429542	890	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1273802195 CA398623288	891	S>N		No	gnomAD ClinGen
CA8429541 rs774640998	892	G>D		No	ExAC TOPMed gnomAD ClinGen
rs931844120 CA288439309	896	S>P		No	ClinGen TOPMed
rs531159882 CA8429538	899	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1415100933 CA398623188	900	S>C		No	ClinGen gnomAD
rs756394352 CA8429536	900	S>N		No	ClinGen ExAC gnomAD
CA8429535 rs373298315	901	Q>E		No	ESP ExAC TOPMed gnomAD ClinGen
rs373298315 CA398623182	901	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA398623178 rs1597953340	901	Q>L		No	Ensembl ClinGen
rs375512377 CA288439276	902	P>H		No	ESP ClinGen
rs375512377 CA288439263	902	P>L		No	ESP ClinGen
CA8429533 rs145541292	904	V>I		No	ESP ExAC TOPMed gnomAD ClinGen
CA8429532 rs749928354	905	T>P		No	ExAC gnomAD ClinGen
COSM1731024 rs562124403 CA8429530	906	R>Q	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs113650896 CA8429531	906	R>W		No	ClinGen ExAC TOPMed gnomAD
CA398623110 rs1235714900	909	Q>E		No	gnomAD ClinGen
rs1344306490 CA398623106	909	Q>P		No	TOPMed gnomAD ClinGen
CA8429528 rs753470321	912	G>E		No	ExAC TOPMed gnomAD ClinGen
CA8429527 rs763832794	914	N>K		No	ClinGen ExAC gnomAD
CA398623014 rs1224146401	916	G>E		No	TOPMed ClinGen
COSM273370 rs767516704 CA288439191	917	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA398623002 rs1350804476	917	R>H		No	TOPMed gnomAD ClinGen
CA288439171 rs531568341 COSM3742106	919	F>L	liver [Cosmic]	No	gnomAD ClinGen cosmic curated
rs373080718 CA8429522	925	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8429521 rs578143841	927	E>*		No	1000Genomes ExAC gnomAD ClinGen
CA8429520 rs573650413	928	Q>*		No	1000Genomes ExAC gnomAD ClinGen
CA8429518 rs773259003	928	Q>H		No	ClinGen ExAC gnomAD
rs749418155 CA8429519	928	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA398622852 rs1275280682	929	Q>H		No	gnomAD ClinGen
rs375392866 CA8429517	932	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA398622822 rs1341588581	932	F>S		No	ClinGen gnomAD
rs1368649477 CA398622751	936	V>L		No	ClinGen gnomAD
CA8429514 rs755462826	937	D>N		No	ClinGen ExAC TOPMed gnomAD
CA398622734 rs755462826	937	D>Y		No	ExAC TOPMed gnomAD ClinGen
rs1372890606 CA398622719	938	E>K		No	gnomAD ClinGen
rs899686892 CA288439098	939	N>S		No	ClinGen Ensembl
rs756711722 CA8429511	941	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs753405800 CA8429510	942	P>L		No	ClinGen ExAC gnomAD
CA398622631 rs1248044099	943	G>R		No	TOPMed ClinGen
CA398621378 rs1441320893	945	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
rs776955624 CA8429496	947	A>G		No	ClinGen ExAC gnomAD
CA398621365 rs1412414973	947	A>T		No	TOPMed gnomAD ClinGen
CA8429495 rs200160467	948	P>L		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA288437046 rs867008035	949	S>F		No	ClinGen Ensembl
rs892283778 CA288437030	951	T>A		No	TOPMed gnomAD ClinGen
CA8429492 rs747401532	957	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA398621264 rs1597949904	957	T>P		No	ClinGen Ensembl
CA398621249 rs1269156600	958	L>V		No	gnomAD ClinGen
CA8429491 rs780485037	959	E>K		No	ClinGen ExAC gnomAD
rs139682740 CA8429490 COSM976282	960	S>L	endometrium [Cosmic]	No	ESP ExAC TOPMed gnomAD ClinGen cosmic curated
rs763575168 CA288437010	961	E>V		No	ClinGen TOPMed gnomAD
CA8429487 rs572746282	962	A>D		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs572746282 CA398621200	962	A>V		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA398621199 rs1377775128	963	R>G		No	gnomAD ClinGen
CA8429486 rs150624837	963	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA398621175 rs1436815796	965	K>Q		No	ClinGen TOPMed gnomAD
CA8429485 rs781023226	967	P>L		No	ClinGen ExAC gnomAD
CA398621148 rs1443781179	967	P>S		No	TOPMed ClinGen
rs754772043 CA8429484	968	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA288436986 rs868844332	968	R>W		No	TOPMed gnomAD ClinGen
CA398621131 rs1281544695	969	A>D		No	TOPMed ClinGen
rs1351664221 CA398621122	970	S>N		No	TOPMed ClinGen
rs751411991 CA8429482	971	S>F		No	ClinGen ExAC TOPMed gnomAD
rs751411991 CA398621110	971	S>Y		No	ExAC TOPMed gnomAD ClinGen
CA398621103 rs1242595094	972	S>A		No	ClinGen gnomAD
CA398621094 rs1181893650	973	D>N		No	ClinGen gnomAD
CA8429481 rs141889615	975	G>R		No	ESP ExAC TOPMed gnomAD ClinGen
CA398621009 rs1349025986	980	K>N		No	gnomAD ClinGen
rs1267647679 CA398620997	981	P>L		No	ClinGen TOPMed gnomAD
rs1567731422 CA398621003	981	P>T		No	Ensembl ClinGen
CA8429478 rs765404592	982	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA288436971 rs750453661	982	R>W		No	ClinGen ExAC TOPMed gnomAD
rs559306186 CA8429477	985	S>T		No	1000Genomes ExAC gnomAD ClinGen
CA288436941 rs976794644	986	L>F		No	TOPMed ClinGen
CA398620934 rs1365406542	987	C>S		No	ClinGen gnomAD
CA398620898 rs1380206998	990	P>L		No	gnomAD ClinGen
CA398620864 rs1293951662	993	T>S		No	ClinGen gnomAD
CA8429474 rs148114148	994	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8429473 rs775902802	994	R>H		No	ExAC TOPMed gnomAD ClinGen
rs1161685975 CA398620851	995	P>S		No	TOPMed gnomAD ClinGen
rs777850988 RCV002613534	997	C>missing		No	ClinVar dbSNP
rs777850988	997	C>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1164351497 CA398620812	998	P>L		No	TOPMed ClinGen
rs1390978831 CA398620807	999	Q>*		No	gnomAD ClinGen
CA398620766 rs1330937382	1002	R>L		No	ClinGen TOPMed

2 associated diseases with Q13472

[MIM: 618097]: Microcephaly, growth restriction, and increased sister chromatid exchange 2 (MGRISCE2)

An autosomal recessive disorder characterized by intrauterine growth restriction, poor postnatal growth with short stature and microcephaly, and increased sister chromatid exchange on cell studies. {ECO:0000269|PubMed:30057030}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 618098]: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 (PEOB5)

A form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. PEOB5 features include slowly progressive ptosis, intermittent double vision, cardiac arrhythmias, exercise intolerance, proximal limb and neck muscle weakness, and cerebellar ataxia. Patients skeletal muscle biopsy show numerous COX-deficient ragged-red fibers, increased mtDNA deletions, and extensive variable mtDNA rearrangements. {ECO:0000269|PubMed:29290614}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal recessive disorder characterized by intrauterine growth restriction, poor postnatal growth with short stature and microcephaly, and increased sister chromatid exchange on cell studies. {ECO:0000269|PubMed:30057030}. Note=The disease is caused by variants affecting the gene represented in this entry.
A form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. PEOB5 features include slowly progressive ptosis, intermittent double vision, cardiac arrhythmias, exercise intolerance, proximal limb and neck muscle weakness, and cerebellar ataxia. Patients skeletal muscle biopsy show numerous COX-deficient ragged-red fibers, increased mtDNA deletions, and extensive variable mtDNA rearrangements. {ECO:0000269|PubMed:29290614}. Note=The disease is caused by variants affecting the gene represented in this entry.

10 regional properties for Q13472

Type	Name	Position	InterPro Accession
domain	DNA topoisomerase, type IA, domain 2	172 - 269	IPR003601
domain	DNA topoisomerase, type IA, DNA-binding domain	315 - 569	IPR003602
domain	TOPRIM domain	35 - 181	IPR006171
domain	Zinc finger, GRF-type	811 - 852	IPR010666-1
domain	Zinc finger, GRF-type	896 - 939	IPR010666-2
domain	DNA topoisomerase, type IA, central	143 - 156	IPR013497-1
domain	DNA topoisomerase, type IA, central	196 - 617	IPR013497-2
domain	DNA topoisomerase, type IA, zn finger	656 - 693	IPR013498
active_site	DNA topoisomerase, type IA, active site	352 - 366	IPR023406
domain	DNA topoisomerase 3-like, TOPRIM domain	35 - 193	IPR034144

Functions

		Description
EC Number	5.6.2.1	Enzymes altering nucleic acid conformation
Subcellular Localization	Mitochondrion matrix
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
mitochondrial matrix	The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation.
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.
PML body	A class of nuclear body; they react against SP100 auto-antibodies (PML, promyelocytic leukemia); cells typically contain 10-30 PML bodies per nucleus; alterations in the localization of PML bodies occurs after viral infection.
RecQ family helicase-topoisomerase III complex	A complex containing a RecQ family helicase and a topoisomerase III homologue (a member of the topoisomerase type IA subfamily); may also include one or more additional proteins; conserved from E. coli to human.

5 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).
DNA topoisomerase activity	Catalysis of the transient cleavage and passage of individual DNA strands or double helices through one another, resulting a topological transformation in double-stranded DNA.
DNA topoisomerase type I (single strand cut, ATP-independent) activity	Catalysis of a DNA topological transformation by transiently cleaving one DNA strand at a time to allow passage of another strand; changes the linking number by +1 per catalytic cycle.
single-stranded DNA binding	Binding to single-stranded DNA.
zinc ion binding	Binding to a zinc ion (Zn).

6 GO annotations of biological process

Name	Definition
chromosome separation	The cell cycle process in which paired chromosomes are detached from each other. Chromosome separation begins with the release of cohesin complexes from chromosomes; in budding yeast, this includes the cleavage of cohesin complexes along the chromosome arms, followed by the separation of the centromeric regions. Chromosome separation also includes formation of chromatid axes mediated by condensins, and ends with the disentangling of inter-sister catenation catalyzed by topoisomerase II (topo II).
DNA topological change	The process in which a transformation is induced in the topological structure of a double-stranded DNA helix, resulting in a change in linking number.
double-strand break repair via homologous recombination	The error-free repair of a double-strand break in DNA in which the broken DNA molecule is repaired using homologous sequences. A strand in the broken DNA searches for a homologous region in an intact chromosome to serve as the template for DNA synthesis. The restoration of two intact DNA molecules results in the exchange, reciprocal or nonreciprocal, of genetic material between the intact DNA molecule and the broken DNA molecule.
meiotic cell cycle	Progression through the phases of the meiotic cell cycle, in which canonically a cell replicates to produce four offspring with half the chromosomal content of the progenitor cell via two nuclear divisions.
mitochondrial DNA metabolic process	The chemical reactions and pathways involving mitochondrial DNA.
resolution of recombination intermediates	The cleavage and rejoining of intermediates, such as Holliday junctions, formed during DNA recombination to produce two intact molecules in which genetic material has been exchanged.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P13099	TOP3	DNA topoisomerase 3	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
O95985	TOP3B	DNA topoisomerase 3-beta-1	Homo sapiens (Human)	PR
O70157	Top3a	DNA topoisomerase 3-alpha	Mus musculus (Mouse)	PR
C7J0A2	TOP3A	DNA topoisomerase 3-alpha	Oryza sativa subsp japonica (Rice)	PR
Q9LVP1	TOP3A	DNA topoisomerase 3-alpha	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MIFPVARYAL	RWLRRPEDRA	FSRAAMEMAL	RGVRKVLCVA	EKNDAAKGIA	DLLSNGRMRR
70	80	90	100	110	120
REGLSKFNKI	YEFDYHLYGQ	NVTMVMTSVS	GHLLAHDFQM	QFRKWQSCNP	LVLFEAEIEK
130	140	150	160	170	180
YCPENFVDIK	KTLERETRQC	QALVIWTDCD	REGENIGFEI	IHVCKAVKPN	LQVLRARFSE
190	200	210	220	230	240
ITPHAVRTAC	ENLTEPDQRV	SDAVDVRQEL	DLRIGAAFTR	FQTLRLQRIF	PEVLAEQLIS
250	260	270	280	290	300
YGSCQFPTLG	FVVERFKAIQ	AFVPEIFHRI	KVTHDHKDGI	VEFNWKRHRL	FNHTACLVLY
310	320	330	340	350	360
QLCVEDPMAT	VVEVRSKPKS	KWRPQALDTV	ELEKLASRKL	RINAKETMRI	AEKLYTQGYI
370	380	390	400	410	420
SYPRTETNIF	PRDLNLTVLV	EQQTPDPRWG	AFAQSILERG	GPTPRNGNKS	DQAHPPIHPT
430	440	450	460	470	480
KYTNNLQGDE	QRLYEFIVRH	FLACCSQDAQ	GQETTVEIDI	AQERFVAHGL	MILARNYLDV
490	500	510	520	530	540
YPYDHWSDKI	LPVYEQGSHF	QPSTVEMVDG	ETSPPKLLTE	ADLIALMEKH	GIGTDATHAE
550	560	570	580	590	600
HIETIKARMY	VGLTPDKRFL	PGHLGMGLVE	GYDSMGYEMS	KPDLRAELEA	DLKLICDGKK
610	620	630	640	650	660
DKFVVLRQQV	QKYKQVFIEA	VAKAKKLDEA	LAQYFGNGTE	LAQQEDIYPA	MPEPIRKCPQ
670	680	690	700	710	720
CNKDMVLKTK	KNGGFYLSCM	GFPECRSAVW	LPDSVLEASR	DSSVCPVCQP	HPVYRLKLKF
730	740	750	760	770	780
KRGSLPPTMP	LEFVCCIGGC	DDTLREILDL	RFSGGPPRAS	QPSGRLQANQ	SLNRMDNSQH
790	800	810	820	830	840
PQPADSRQTG	SSKALAQTLP	PPTAAGESNS	VTCNCGQEAV	LLTVRKEGPN	RGRQFFKCNG
850	860	870	880	890	900
GSCNFFLWAD	SPNPGAGGPP	ALAYRPLGAS	LGCPPGPGIH	LGGFGNPGDG	SGSGTSCLCS
910	920	930	940	950	960
QPSVTRTVQK	DGPNKGRQFH	TCAKPREQQC	GFFQWVDENT	APGTSGAPSW	TGDRGRTLES
970	980	990	1000
EARSKRPRAS	SSDMGSTAKK	PRKCSLCHQP	GHTRPFCPQN	R