AiPD: Autoinhibited Protein Database

Q02880

Gene name	TOP2B
Protein name	DNA topoisomerase 2-beta
Names	DNA topoisomerase II, beta isozyme
Species	Homo sapiens (Human)
KEGG Pathway	hsa:7155
EC number	5.6.2.2: 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)

1301-1626 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1301-1626 (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

16 structures for Q02880

Entry ID	Method	Resolution	Chain	Position	Source
3QX3	X-ray	216 A	A/B	450-1206	PDB
4G0U	X-ray	270 A	A/B	450-1206	PDB
4G0V	X-ray	255 A	A/B	450-1206	PDB
4G0W	X-ray	270 A	A/B	450-1206	PDB
4J3N	X-ray	230 A	A/B	450-1206	PDB
5GWI	X-ray	274 A	A/B	450-1206	PDB
5GWJ	X-ray	257 A	A/B	450-1206	PDB
5ZAD	X-ray	254 A	A/B	450-1206	PDB
5ZEN	X-ray	275 A	A	450-1206	PDB
5ZQF	X-ray	387 A	A	450-1206	PDB
5ZRF	X-ray	230 A	A/B	450-1206	PDB
7QFN	X-ray	262 A	A	50-449	PDB
7QFO	X-ray	190 A	A	50-449	PDB
7YQ8	EM	390 A	A/B	1-1626	PDB
7ZBG	X-ray	230 A	A	50-449	PDB
AF-Q02880-F1	Predicted				AlphaFoldDB

919 variants for Q02880

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA2288979 RCV001326224 rs772611515 RCV002546166 CA351915044	34	K>N	Inborn genetic diseases [ClinVar]	Yes	ClinGen ExAC TOPMed gnomAD ClinVar dbSNP
CA10588830 RCV000256202 VAR_079273 rs886039770	63	H>Y	Autism spectrum disorder probable disease-associated variant found in patients with global developmental delay and autism spectrum disorder [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
TCGA novel VAR_086569	488	S>L	Variant assessed as Somatic; impact. BILU; loss-of-function variant in a yeast complementation assay [NCI-TCGA, UniProt]	Yes	NCI-TCGA UniProt
VAR_086570	490	A>P	BILU; decreased protein abundance; severely decreased DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) activity [UniProt]	Yes	UniProt
VAR_086571	593	E>del	BILU; loss-of-function variant in a yeast complementation assay [UniProt]	Yes	UniProt
RCV001266592 RCV003222291 rs1702879491	634	Y>C	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
VAR_086572	638	G>S	BILU; loss-of-function variant in a yeast complementation assay [UniProt]	Yes	UniProt
RCV002282511 rs1702479861 RCV001295817	1151	L>V	B-cell immunodeficiency, distal limb anomalies, and urogenital malformations [ClinVar]	Yes	ClinVar dbSNP
RCV002538463 CA2287949 RCV001295977 rs187350468	1620	V>I	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1374710745 CA351887572	2	A>D		No	ClinGen TOPMed gnomAD
CA351887578 rs1219277355	2	A>T		No	ClinGen gnomAD
rs1374710745 CA351887569	2	A>V		No	ClinGen TOPMed gnomAD
rs1439695278 CA351887556	3	K>R		No	ClinGen TOPMed gnomAD
CA351887540 rs1273825089	4	S>L		No	ClinGen TOPMed gnomAD
CA351887533 rs1445687893	5	G>A		No	ClinGen TOPMed
CA2289002 rs771779926	5	G>S		No	ClinGen ExAC gnomAD
CA351887522 rs1235525179	7	C>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2289001 rs759290825	8	G>R		No	ClinGen ExAC gnomAD
rs759290825 CA351887507	8	G>S		No	ClinGen ExAC gnomAD
CA351887481 rs1349954555	10	G>E		No	ClinGen TOPMed
rs1355553493 CA351887466	11	A>G		No	ClinGen TOPMed gnomAD
rs145455403 CA2288999	11	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA351887464 rs1355553493	11	A>V		No	ClinGen TOPMed gnomAD
CA351887453 rs1428485179	12	G>D		No	ClinGen gnomAD
CA351887462 rs1328982836	12	G>S		No	ClinGen gnomAD
rs1340109717 CA351887451	13	V>M		No	ClinGen TOPMed
CA351887439 rs1368370246	14	G>S		No	ClinGen gnomAD
CA351887420 rs1435179959	15	G>D		No	ClinGen gnomAD
CA351887406 rs1189187915	16	G>V		No	ClinGen gnomAD
rs1421480465 CA351887402	17	N>H		No	ClinGen TOPMed gnomAD
rs1233350573 CA351887387	18	G>R		No	ClinGen gnomAD
rs777837072 CA71640604	19	A>P		No	ClinGen ExAC TOPMed gnomAD
CA2288997 rs777837072	19	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1482094817 CA351887371	19	A>V		No	ClinGen TOPMed gnomAD
rs945093763 CA71640595	21	T>A		No	ClinGen TOPMed
CA351887355 rs1282814678	21	T>I		No	ClinGen TOPMed gnomAD
rs1282814678 CA351887357	21	T>N		No	ClinGen TOPMed gnomAD
CA71640593 rs913543039	23	V>L		No	ClinGen TOPMed gnomAD
CA351887344 rs913543039	23	V>M		No	ClinGen TOPMed gnomAD
CA2288982 rs774190550	27	D>E		No	ClinGen ExAC gnomAD
CA351915196 rs1559506961	27	D>N		No	ClinGen Ensembl
CA2288983 rs370167709	27	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs770563756 CA2288981	28	Q>*		No	ClinGen ExAC gnomAD
rs1423294607 CA351915178	28	Q>R		No	ClinGen gnomAD
CA2288980 rs762587075	30	N>S		No	ClinGen ExAC gnomAD
rs1327115055 CA351915136	31	A>V		No	ClinGen Ensembl
CA2288978 rs769705803	35	E>G		No	ClinGen ExAC gnomAD
TCGA novel	35	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1185227770	35	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1207146744 CA351915014	39	T>A		No	ClinGen gnomAD
rs1470246857 CA351915007	40	A>P		No	ClinGen gnomAD
rs1470246857 CA351915006	40	A>S		No	ClinGen gnomAD
rs748068791 CA2288976	41	N>D		No	ClinGen ExAC gnomAD
CA351914999 rs780918375	41	N>I		No	ClinGen ExAC TOPMed gnomAD
CA2288975 rs780918375	41	N>S		No	ClinGen ExAC TOPMed gnomAD
CA2288973 rs746084958	43	N>D		No	ClinGen ExAC TOPMed gnomAD
CA2288970 rs753885014	44	D>A		No	ClinGen ExAC TOPMed gnomAD
rs757433433 CA2288972	44	D>N		No	ClinGen ExAC TOPMed gnomAD
rs757433433 CA2288971	44	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1432570087 CA351914970	46	S>A		No	ClinGen gnomAD
rs1383841349 CA351914965	46	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1454739421 CA351914943	49	L>F		No	ClinGen TOPMed
rs777742617 CA2288969	49	L>W		No	ClinGen ExAC gnomAD
rs756592268 CA351914940	50	S>C		No	ClinGen ExAC gnomAD
rs756592268 CA2288968	50	S>F		No	ClinGen ExAC gnomAD
rs908101912 CA71666865	50	S>P		No	ClinGen Ensembl
CA351914917 rs1378865143	54	V>M		No	ClinGen TOPMed
rs1297511160 CA351914899	56	Q>R		No	ClinGen gnomAD
CA351914855 rs1172551855	62	E>G		No	ClinGen gnomAD
CA2288966 rs767965549	64	I>V		No	ClinGen ExAC TOPMed gnomAD
rs200396829 CA2288965	65	L>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA351914812 rs1187094677	66	L>F		No	ClinGen gnomAD
CA71666812 rs370924487	73	G>A		No	ClinGen ESP
CA2288962 rs762521027	74	S>P		No	ClinGen ExAC gnomAD
rs1415402074 CA351914710	75	V>M		No	ClinGen gnomAD
TCGA novel	77	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351914664 rs1163325494	78	L>S		No	ClinGen gnomAD
CA2288958 rs557902062	79	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1322779749 CA351914512	81	F>V		No	ClinGen TOPMed
CA351914479 rs1329297501	82	M>I		No	ClinGen gnomAD
rs1309034515 CA351914464	83	W>*		No	ClinGen gnomAD
rs1559506200 CA351914453	84	V>A		No	ClinGen Ensembl
CA2288940 rs750095679	84	V>L		No	ClinGen ExAC gnomAD
rs764796902 COSM3660467 CA2288939	85	Y>C	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA351914356 rs1466888766	91	M>I		No	ClinGen TOPMed
CA351914347 rs1403128546	92	N>T		No	ClinGen gnomAD
CA2288937 rs763948503	93	C>F		No	ClinGen ExAC gnomAD
CA2288936 COSM1043381 rs763948503	93	C>Y	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA2288935 rs760637179	95	E>D		No	ClinGen ExAC TOPMed gnomAD
CA351914295 rs1184486100	98	F>L		No	ClinGen TOPMed
rs1472666365 CA351914263	100	P>L		No	ClinGen gnomAD
rs1167069512 CA351914261	101	G>S		No	ClinGen TOPMed
rs1415732249 CA351914207	105	I>L		No	ClinGen TOPMed
rs1215677739 CA351913939	118	Q>H		No	ClinGen gnomAD
rs1410369484 CA351913932	119	R>T		No	ClinGen TOPMed
CA351913912 rs1357137757	120	D>E		No	ClinGen gnomAD
CA2288918 rs372592161 RCV001344964	121	K>M		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs752614363 CA2288917	124	T>S		No	ClinGen ExAC gnomAD
rs1434764984 CA351913843	126	I>M		No	ClinGen gnomAD
rs767342178 CA2288916	126	I>V		No	ClinGen ExAC TOPMed gnomAD
rs976190364 CA71664131	127	K>E		No	ClinGen TOPMed
rs1413567205 CA351913820	130	I>T		No	ClinGen TOPMed
CA71664102 rs553516268	130	I>V		No	ClinGen 1000Genomes TOPMed
rs1328482377 CA351913810	131	D>E		No	ClinGen gnomAD
rs774209671 CA2288914	132	P>L		No	ClinGen ExAC gnomAD
rs1575579734 CA351913473	133	E>*		No	ClinGen Ensembl
rs1368227324 CA351913472	133	E>A		No	ClinGen gnomAD
RCV001324785 rs1703158547	135	N>*		No	ClinVar dbSNP
rs1332793833 CA351913455	135	N>K		No	ClinGen gnomAD
CA351913445 rs1246008535	137	I>V		No	ClinGen gnomAD
rs1196912366 CA351913438	138	S>G		No	ClinGen gnomAD
TCGA novel	142	N>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777233432 CA2288893	143	G>R		No	ClinGen ExAC
CA351913379 rs1252899660	146	I>V		No	ClinGen gnomAD
CA71660578 rs4681031	150	E>K		No	ClinGen Ensembl
CA2288890 rs767301754	150	E>V		No	ClinGen ExAC
rs185542969 CA71660555	155	K>R		No	ClinGen 1000Genomes
CA351913302 rs1220141426	157	Y>C		No	ClinGen gnomAD
rs1184292539 CA351913294	158	V>A		No	ClinGen TOPMed
CA351913298 rs1344977549	158	V>I		No	ClinGen gnomAD
CA2288886 rs762108479	162	I>V		No	ClinGen ExAC gnomAD
rs777036476 CA2288885	166	L>V		No	ClinGen ExAC
rs1351796911 CA351913226	169	S>P		No	ClinGen gnomAD
CA2288883 rs760612076	173	D>N		No	ClinGen ExAC TOPMed gnomAD
rs760612076 CA71660516	173	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA351913189 rs1178003980	174	D>N		No	ClinGen gnomAD
rs775641676 CA2288882	175	D>G		No	ClinGen ExAC TOPMed gnomAD
CA351913170 rs1408602630	176	E>D		No	ClinGen gnomAD
CA351913173 rs1473650062	176	E>G		No	ClinGen gnomAD
CA2288881 rs540231638	176	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA351913146 rs1432164040	180	T>A		No	ClinGen TOPMed
rs867000913 CA71660489	181	G>C		No	ClinGen Ensembl
CA351913108 rs1559503671	183	R>H		No	ClinGen Ensembl
rs1244047807 CA351913090	184	N>S		No	ClinGen TOPMed
TCGA novel	190	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2288871 rs780785206	192	N>S		No	ClinGen ExAC gnomAD
rs1207609376 CA351912943	193	I>T		No	ClinGen gnomAD
rs1180278357 CA351912917	195	S>G		No	ClinGen TOPMed
TCGA novel	195	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1228536434 CA351912877	197	K>R		No	ClinGen gnomAD
CA351912843 rs1377914245	199	T>I		No	ClinGen TOPMed gnomAD
rs1022631364 CA71659744	200	V>A		No	ClinGen Ensembl
CA71659743 rs868359051	201	E>*		No	ClinGen Ensembl
rs766248264 CA2288868	202	T>A		No	ClinGen ExAC gnomAD
CA71659725 rs919085098	203	A>G		No	ClinGen TOPMed gnomAD
TCGA novel	203	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867930067 CA71659720	204	C>F		No	ClinGen Ensembl
rs1389354130 CA351912568	205	K>Q		No	ClinGen gnomAD
CA351912515 rs1351692530	208	K>E		No	ClinGen gnomAD
rs147912364 CA2288867	209	H>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2288865 rs202236498	210	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2288866 rs202236498	210	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747858990 CA2288854	216	M>I		No	ClinGen ExAC gnomAD
rs746592444 CA71658865	216	M>K		No	ClinGen TOPMed
rs568021848 CA71658876	216	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2288855 rs568021848	216	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	217	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2288853 rs750737822	220	M>I		No	ClinGen ExAC TOPMed gnomAD
CA2288852 rs754560171	222	T>I		No	ClinGen ExAC gnomAD
CA351912292 rs1444350238	222	T>S		No	ClinGen TOPMed
CA351912283 rs1170702260	224	E>K		No	ClinGen gnomAD
rs1208221642 CA351912274	225	A>P		No	ClinGen TOPMed
rs1430870897 CA351912265	226	K>R		No	ClinGen gnomAD
rs1389949549 CA351912246	229	H>N		No	ClinGen gnomAD
CA71658813 rs368569356	231	D>G		No	ClinGen ESP gnomAD
CA2288851 rs746918200	233	E>D		No	ClinGen ExAC TOPMed gnomAD
CA2288850 rs780200993	234	D>A		No	ClinGen ExAC gnomAD
rs758411041 CA2288849	235	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs1185034976 CA351912189	237	C>R		No	ClinGen TOPMed
rs1434685416 CA351912183	237	C>W		No	ClinGen gnomAD
CA2288847 rs765141504	238	I>V		No	ClinGen ExAC gnomAD
rs1575578580 CA351912171	239	T>I		No	ClinGen Ensembl
CA351912139 rs1224916396	244	L>V		No	ClinGen gnomAD
TCGA novel	245	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351912108 rs1410378172	248	K>M		No	ClinGen TOPMed
CA351912103 rs1301865383	249	M>V		No	ClinGen gnomAD
rs968420858 CA71658760	250	E>G		No	ClinGen Ensembl
CA71658757 rs1015927365	254	K>M		No	ClinGen TOPMed gnomAD
rs759718578 CA2288843	256	I>F		No	ClinGen ExAC gnomAD
rs759718578 CA351912051	256	I>V		No	ClinGen ExAC gnomAD
rs766807580 CA2288841	260	M>V		No	ClinGen ExAC gnomAD
rs376005813 CA351912016	261	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA2288840 rs376005813	261	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1479706479 CA351911957	270	S>L		No	ClinGen TOPMed gnomAD
TCGA novel	270	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1440401891 CA351911954	271	C>S		No	ClinGen TOPMed gnomAD
CA351911944 rs1575578533	272	R>K		No	ClinGen Ensembl
rs747728982 CA2288837	273	G>V		No	ClinGen ExAC gnomAD
TCGA novel	273	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351911932 rs1483196850	274	V>F		No	ClinGen TOPMed gnomAD
rs1250576222 CA351911929	274	V>G		No	ClinGen gnomAD
rs1483196850 CA351911934	274	V>I		No	ClinGen TOPMed gnomAD
CA351911915 rs1575578515	276	V>G		No	ClinGen Ensembl
rs1006383846 CA71658691	279	N>S		No	ClinGen TOPMed
rs867773200 CA71658668	280	G>*		No	ClinGen gnomAD
CA351911890 rs867773200	280	G>R		No	ClinGen gnomAD
rs1175761381 CA351911878	281	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2288817 rs201071120	285	V>I		No	ClinGen ExAC TOPMed gnomAD
rs201071120 CA2288818	285	V>L		No	ClinGen ExAC TOPMed gnomAD
rs765519487 CA2288816	288	F>V		No	ClinGen ExAC gnomAD
CA2288814 rs776876327	289	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2288813 rs768311598	289	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs776876327 CA2288815	289	R>S		No	ClinGen ExAC gnomAD
CA2288809 rs745795484	295	Y>F		No	ClinGen ExAC gnomAD
CA351911757 rs1379402113	298	D>H		No	ClinGen gnomAD
rs749046868 CA2288806	301	D>N		No	ClinGen ExAC gnomAD
rs932624509 CA71656964	302	E>A		No	ClinGen Ensembl
CA2288805 rs61756346	303	T>I		No	ClinGen ESP ExAC gnomAD
rs61756346 CA71656960	303	T>N		No	ClinGen ESP ExAC gnomAD
rs1391533191 CA351911715	304	G>E		No	ClinGen gnomAD
rs1391533191 CA351911713	304	G>V		No	ClinGen gnomAD
CA351911711 rs1321792917	305	V>M		No	ClinGen TOPMed gnomAD
rs1156241206 CA351911645	315	N>D		No	ClinGen TOPMed gnomAD
rs780079585 CA2288802	318	W>*		No	ClinGen ExAC gnomAD
CA351911610 rs758545072	319	D>E		No	ClinGen ExAC TOPMed gnomAD
CA71656939 rs376377866	319	D>N		No	ClinGen ESP TOPMed gnomAD
CA351911593 rs1442518869	322	L>V		No	ClinGen gnomAD
rs1024439985 CA71656935	323	T>I		No	ClinGen TOPMed
rs762255155 CA2288798	331	Q>*		No	ClinGen ExAC gnomAD
rs762255155 CA351911530	331	Q>E		No	ClinGen ExAC gnomAD
rs1357373192 CA351911495	335	V>G		No	ClinGen gnomAD
CA351911488 rs376501583	336	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA2288795 rs563383223	337	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1000291125 CA71656911	340	T>A		No	ClinGen TOPMed
rs769567284 CA2288767	344	G>V		No	ClinGen ExAC gnomAD
CA351910877 rs1174241309	345	R>Q		No	ClinGen gnomAD
rs772229888 CA2288764	345	R>W		No	ClinGen ExAC TOPMed gnomAD
COSM730398 CA2288762 rs372468052	347	V>L	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA2288761 rs372468052	347	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA351910858 rs1357930313	348	D>G		No	ClinGen TOPMed
CA351910852 rs1223099460	349	Y>H		No	ClinGen gnomAD
rs1291004474 CA351910838	351	V>A		No	ClinGen TOPMed
rs369506905 CA351910839	351	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA2288760 rs369506905	351	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs947590543 CA71655853	352	D>Y		No	ClinGen TOPMed gnomAD
CA2288757 rs753069547	359	I>M		No	ClinGen ExAC gnomAD
CA2288759 rs778366146	359	I>T		No	ClinGen ExAC gnomAD
TCGA novel	361	V>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749741390 CA71655844	361	V>I		No	ClinGen Ensembl
CA351910746 rs1281091591	365	K>R		No	ClinGen gnomAD
TCGA novel	365	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351910734 rs1231014625	366	N>K		No	ClinGen gnomAD
rs1020693245 CA71655843	368	A>G		No	ClinGen Ensembl
CA351910707 rs1323396185	371	S>P		No	ClinGen gnomAD
rs192936167 CA71655652	381	I>V		No	ClinGen 1000Genomes
CA71655651 rs868678549	387	C>F		No	ClinGen Ensembl
CA2288731 rs764772489	389	I>T		No	ClinGen ExAC gnomAD
rs1416194713 CA351910557	390	E>G		No	ClinGen gnomAD
TCGA novel	391	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867758232 CA71655645	392	P>S		No	ClinGen Ensembl
rs1239258454 CA351910538	393	T>A		No	ClinGen TOPMed
CA2288730 rs761704180	393	T>S		No	ClinGen ExAC gnomAD
rs763932948 CA2288728	402	M>I		No	ClinGen ExAC gnomAD
CA2288727 rs760328220	403	T>S		No	ClinGen ExAC gnomAD
rs374630212 CA2288726	404	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1466916403 CA351910450	405	Q>H		No	ClinGen TOPMed
CA351910447 rs1172766643	406	P>S		No	ClinGen TOPMed
rs1314805712 CA351910409	411	S>C		No	ClinGen gnomAD
CA2288723 rs773404223	413	C>G		No	ClinGen ExAC gnomAD
CA351910386 rs1246511019 CA351910385	414	Q>H		No	ClinGen gnomAD
rs866591796 CA71655618	415	L>M		No	ClinGen Ensembl
CA351910366 rs1358455310 COSM1043376	418	K>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	420	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	422	A>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761928881 CA2288702	423	A>T		No	ClinGen ExAC gnomAD
rs776858356 CA2288701	425	N>S		No	ClinGen ExAC TOPMed gnomAD
rs769008832 CA2288700	426	C>F		No	ClinGen ExAC gnomAD
rs1435355077 CA351910087	427	G>D		No	ClinGen gnomAD
rs775683110 CA2288698	428	I>V		No	ClinGen ExAC TOPMed gnomAD
rs200329755 CA2288697	429	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	430	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351910069 rs1266305512	430	E>G		No	ClinGen gnomAD
rs1207109854 CA351910062	431	S>N		No	ClinGen gnomAD
TCGA novel	440	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2288696 rs745503698	443	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs988067844 CA71654418	445	N>Y		No	ClinGen Ensembl
CA351909900 rs1222947464	454	S>G		No	ClinGen gnomAD
CA2288693 rs748754892	454	S>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	455	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777365271 CA2288692	456	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	459	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs202152951 CA2288691	459	I>V		No	ClinGen ExAC TOPMed gnomAD
rs776118307 CA2288679	472	H>R		No	ClinGen ExAC
TCGA novel	473	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1398137194 CA351909565	474	L>P		No	ClinGen gnomAD
CA2288677 RCV001350007 rs746161334	475	E>D		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1468639579 CA351909528	479	I>T		No	ClinGen gnomAD
rs1245537288 CA351909499	484	D>N		No	ClinGen TOPMed
rs1362826451 CA351909454	491	V>M		No	ClinGen gnomAD
rs866815621 CA71654088	493	G>R		No	ClinGen Ensembl
CA351909431 rs1575575398	494	L>F		No	ClinGen Ensembl
CA351909426 rs1575575394	495	G>A		No	ClinGen Ensembl
rs1187294492 CA351909416	497	I>F		No	ClinGen TOPMed
CA351909414 rs1364807137	497	I>T		No	ClinGen TOPMed
rs866352076 CA71654074	499	R>Q		No	ClinGen gnomAD
rs1575575375 CA351909367	504	V>G		No	ClinGen Ensembl
CA351909283 rs1408227039	510	K>R		No	ClinGen TOPMed
rs1259176041 CA351909098	519	H>Y		No	ClinGen gnomAD
CA351909072 rs1575575348	520	K>R		No	ClinGen Ensembl
CA351908946 rs1559500847	522	I>N		No	ClinGen Ensembl
RCV001325923 rs1702914857	526	A>P		No	ClinVar dbSNP
TCGA novel	529	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2288662 rs754151946	530	N>S		No	ClinGen ExAC gnomAD
CA351908697 rs1490561186	535	V>I		No	ClinGen gnomAD
TCGA novel	537	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351908582 rs1244201294	540	K>N		No	ClinGen gnomAD
CA2288660 RCV001314884 rs760747357	547	E>D		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1271271402 CA351908443	547	E>Q		No	ClinGen TOPMed gnomAD
CA2288659 rs775433798	550	K>R		No	ClinGen ExAC gnomAD
CA71653798 COSM1422208 rs748179631	553	R>H	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs771324506 CA2288654	562	D>Y		No	ClinGen ExAC gnomAD
CA351908312 rs1168433979	563	Q>P		No	ClinGen gnomAD
rs1302829713 CA351908201	570	I>V		No	ClinGen gnomAD
rs1436617787 CA351908056	580	H>Y		No	ClinGen gnomAD
CA351907941 rs1575574700	588	H>Y		No	ClinGen Ensembl
rs941984985 CA71653074	589	G>D		No	ClinGen gnomAD
CA351907930 rs1261905838	589	G>S		No	ClinGen gnomAD
CA71653071 rs909036265	599	V>I		No	ClinGen Ensembl
TCGA novel	600	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745633495 CA2288622	603	K>R		No	ClinGen ExAC TOPMed gnomAD
CA351907094 rs745633495	603	K>T		No	ClinGen ExAC TOPMed gnomAD
CA2288620 rs756336705	604	N>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	604	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752902234 CA2288619	604	N>S		No	ClinGen ExAC gnomAD
CA2288621 rs756336705	604	N>Y		No	ClinGen ExAC TOPMed gnomAD
CA2288617 rs755109284	606	Q>H		No	ClinGen ExAC gnomAD
CA2288618 rs529577438	606	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	610	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1633107 CA2288615 rs766805795	615	E>A	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1198127705 CA351906988	618	E>G		No	ClinGen TOPMed
CA2288613 rs750753876	618	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA351906955 rs376162589	622	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA2288611 rs376162589	622	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1390516419 CA351906956	622	H>Y		No	ClinGen TOPMed
rs776496462 CA2288610	623	I>T		No	ClinGen ExAC TOPMed gnomAD
rs763847568 CA2288609	625	N>K		No	ClinGen ExAC gnomAD
rs1346084884 CA351906933	625	N>S		No	ClinGen TOPMed gnomAD
rs1575574610 CA351906924	626	Q>H		No	ClinGen Ensembl
TCGA novel	633	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	640	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1028363501 CA71651661	647	E>Q		No	ClinGen TOPMed
TCGA novel	650	A>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2288595 rs765633968	654	R>K		No	ClinGen ExAC gnomAD
rs1173166728 CA351906496	656	R>C		No	ClinGen gnomAD
rs757502615 CA2288594 COSM183990	656	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1185386412 CA351906461	657	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1351628681 CA351906347	660	R>T		No	ClinGen TOPMed
rs760423678 CA2288591	662	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1490127061 CA351906184	667	D>A		No	ClinGen gnomAD
CA2288589 rs766974741	668	A>D		No	ClinGen ExAC gnomAD
CA351906165 rs1575573659	668	A>P		No	ClinGen Ensembl
rs766974741 CA351906162	668	A>V		No	ClinGen ExAC gnomAD
CA71651612 rs532925587	669	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	669	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA71651245 rs944499512	673	A>S		No	ClinGen Ensembl
CA2288566 rs375889905	676	K>R		No	ClinGen ESP ExAC gnomAD
rs1575573464 CA351905899	677	K>R		No	ClinGen Ensembl
rs1575573454 CA351905781	685	W>R		No	ClinGen Ensembl
TCGA novel	696	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351905647 rs1237274129	696	R>H		No	ClinGen TOPMed gnomAD
rs1292783449 CA351905563	703	E>G		No	ClinGen TOPMed
rs1314965615	704	Q>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA351905476 rs1243172481	705	F>Y		No	ClinGen gnomAD
rs1475308006 CA351905430	708	G>S		No	ClinGen Ensembl
rs750415299 CA2288548	709	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1426301001 CA351905359	713	H>Y		No	ClinGen gnomAD
CA351905294 rs1314235103	717	N>S		No	ClinGen TOPMed
rs1162590623 CA351905277	718	D>V		No	ClinGen TOPMed gnomAD
CA2288544 rs772148625	722	K>R		No	ClinGen ExAC gnomAD
CA351905123 rs1261289154	729	N>D		No	ClinGen gnomAD
CA351905088 rs1225276596	731	D>N		No	ClinGen gnomAD
TCGA novel	746	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2288533 rs754554733	748	R>Q		No	ClinGen ExAC gnomAD
CA351903884 rs1246519283	748	R>W		No	ClinGen gnomAD
CA2288531 RCV000886509 rs200930765	751	L>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs749936333 CA2288529	758	N>K		No	ClinGen ExAC gnomAD
CA2288528 rs765115114	761	R>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	762	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351903321 rs1424754243	771	S>C		No	ClinGen TOPMed
TCGA novel	771	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351903284 rs1434014668	776	S>L		No	ClinGen gnomAD
CA2288524 rs781633604	777	A>S		No	ClinGen ExAC TOPMed gnomAD
CA351903277 rs1162333855	778	Y>H		No	ClinGen TOPMed
TCGA novel	780	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA71640091 rs753154522	783	Q>R		No	ClinGen Ensembl
rs372310695 CA2288500 COSM3660466	785	L>F	liver [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1458841406 CA351903196	787	M>T		No	ClinGen TOPMed
rs765406415 CA2288499	789	I>L		No	ClinGen ExAC TOPMed gnomAD
CA2288498 rs762212071	789	I>T		No	ClinGen ExAC gnomAD
rs765406415 CA351903185	789	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	791	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769043942 CA2288497	792	L>M		No	ClinGen ExAC gnomAD
rs769043942 CA2288496	792	L>V		No	ClinGen ExAC gnomAD
rs1215593958 CA351903164	792	L>W		No	ClinGen gnomAD
rs368712197 CA2288494	800	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1025888594 CA71640054	801	N>D		No	ClinGen TOPMed
rs374915408 CA71640048	802	I>V		No	ClinGen ESP
rs771685976 CA2288492	803	N>S		No	ClinGen ExAC gnomAD
rs767985627 CA2288491	806	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA351903055 rs1361375764	808	I>T		No	ClinGen TOPMed gnomAD
rs530627462 CA2288490	808	I>V		No	ClinGen ExAC TOPMed gnomAD
rs950258326 CA71640024	814	R>Q		No	ClinGen gnomAD
CA2288488 rs748753622	817	G>S		No	ClinGen ExAC gnomAD
CA351902858 rs1179580152	830	M>V		No	ClinGen gnomAD
CA351902602 rs1262305413	833	T>A		No	ClinGen TOPMed
rs1318823818 CA351902589	833	T>I		No	ClinGen TOPMed
rs769739428 CA2288469	834	L>S		No	ClinGen ExAC TOPMed gnomAD
CA351902538 rs1325892579	836	R>S		No	ClinGen gnomAD
CA351902431 rs1366192670	842	V>A		No	ClinGen TOPMed gnomAD
rs373490528 CA2288468	845	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA2288466 rs754886368	845	N>S		No	ClinGen ExAC TOPMed gnomAD
rs373490528 CA2288467	845	N>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA351902318 rs1330040822	847	L>P		No	ClinGen gnomAD
rs1479769291 CA351902324	847	L>V		No	ClinGen TOPMed
CA351900825 rs1575571597	850	L>P		No	ClinGen Ensembl
rs1463770679 CA351900817	851	Y>C		No	ClinGen gnomAD
rs1199086075 CA351900769	855	Q>E		No	ClinGen TOPMed
CA2288465 rs528995984	856	R>C		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	856	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2288464 rs779135229	857	V>I		No	ClinGen ExAC TOPMed gnomAD
CA351900723 rs1422730266	858	E>D		No	ClinGen gnomAD
CA71639535 rs574427954	861	W>*		No	ClinGen Ensembl
rs757437706 CA2288463	861	W>L		No	ClinGen ExAC gnomAD
rs764132639 CA2288461	863	I>S		No	ClinGen ExAC gnomAD
CA351900646 rs775618314	865	I>L		No	ClinGen ExAC TOPMed gnomAD
CA2288460 rs775618314	865	I>V		No	ClinGen ExAC TOPMed gnomAD
CA351900612 rs1408833933	868	M>V		No	ClinGen TOPMed
rs1462872787 CA351900560	874	A>V		No	ClinGen gnomAD
rs1325958233 CA351900477	886	P>L		No	ClinGen gnomAD
rs1310820547 CA351900465	888	Y>C		No	ClinGen gnomAD
rs1332708734 CA351900467	888	Y>N		No	ClinGen TOPMed
CA2288456 rs774601517	890	A>S		No	ClinGen ExAC gnomAD
rs1376770591 CA351900448	890	A>V		No	ClinGen gnomAD
TCGA novel	894	V>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351900410 rs1443919019	896	N>D		No	ClinGen gnomAD
CA351900397 rs1439771558	898	R>G		No	ClinGen gnomAD
CA2288455 rs770579247	899	R>*		No	ClinGen ExAC gnomAD
rs1303080575 CA351900389	899	R>Q		No	ClinGen gnomAD
CA2288454 rs762553343	900	M>I		No	ClinGen ExAC gnomAD
CA351900382 rs1172324114	900	M>T		No	ClinGen TOPMed gnomAD
rs1160204621 CA351900367	902	D>E		No	ClinGen gnomAD
CA351900369 rs1559498331	902	D>G		No	ClinGen Ensembl
TCGA novel	902	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351900342 rs1282324185	906	P>R		No	ClinGen TOPMed
CA351900334 rs1467517835	907	H>Q		No	ClinGen TOPMed gnomAD
rs1440295926 CA351900325	909	M>V		No	ClinGen TOPMed gnomAD
rs764984075 CA2288431	910	L>F		No	ClinGen ExAC gnomAD
rs1488175992 CA351899811	910	L>P		No	ClinGen gnomAD
CA351899808 rs1263856875	911	P>A		No	ClinGen TOPMed
CA351899799 rs1284261303	912	N>D		No	ClinGen gnomAD
rs1326636788 CA351899766	914	K>E		No	ClinGen Ensembl
CA351899759 rs1488299159	914	K>R		No	ClinGen TOPMed
CA2288430 rs372579874	919	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768670311 CA2288428	921	Q>P		No	ClinGen ExAC gnomAD
rs746971399 CA71637507	923	L>F		No	ClinGen ExAC gnomAD
CA2288427 rs746971399	923	L>V		No	ClinGen ExAC gnomAD
CA2288426 rs759564813	935	F>L		No	ClinGen ExAC gnomAD
CA351899427 rs1575569989	936	V>A		No	ClinGen Ensembl
CA2288425 rs771831835	936	V>I		No	ClinGen ExAC TOPMed gnomAD
CA351899396 rs1296072087	939	R>G		No	ClinGen gnomAD
rs1188480316 CA351899341	941	T>S		No	ClinGen TOPMed
rs1386449143 CA351899321	942	V>A		No	ClinGen TOPMed
CA351899330 rs1368067227	942	V>I		No	ClinGen gnomAD
rs745682659 CA2288424	951	T>A		No	ClinGen ExAC gnomAD
CA2288423 rs564436755	951	T>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1456452061 CA351899189	953	T>A		No	ClinGen gnomAD
rs1457086465 CA351899070	956	Y>C		No	ClinGen gnomAD
rs748419748 CA2288402	963	P>L		No	ClinGen ExAC gnomAD
rs368588412 CA2288401	964	M>V		No	ClinGen ESP ExAC gnomAD
TCGA novel	966	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1446121457 CA351898907	969	D>H		No	ClinGen gnomAD
CA2288400 rs768684309	971	T>I		No	ClinGen ExAC gnomAD
rs1415211894 CA351898723	980	E>A		No	ClinGen gnomAD
TCGA novel	981	Y>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs188724401 CA71636882	982	H>L		No	ClinGen 1000Genomes
rs1381459732 CA351898586	986	T>A		No	ClinGen gnomAD
CA351898573 rs1178786940	986	T>S		No	ClinGen gnomAD
CA351898501 rs1446363855	991	V>M		No	ClinGen TOPMed
rs1230617892 COSM3767387 CA351898470	993	M>V	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1187928629 CA351898438	994	T>N		No	ClinGen TOPMed
rs750775397 CA2288396	995	E>D		No	ClinGen ExAC
rs371790869 CA2288394	1000	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA351898273 rs1413033829	1006	L>R		No	ClinGen TOPMed
TCGA novel	1008	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1010	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351898152 rs1355847168	1014	T>S		No	ClinGen gnomAD
CA351898131 rs1286653884	1016	L>F		No	ClinGen gnomAD
TCGA novel	1019	N>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1192643104 CA351897880	1023	L>F		No	ClinGen TOPMed gnomAD
CA351897883 rs1192643104	1023	L>V		No	ClinGen TOPMed gnomAD
TCGA novel	1025	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2288372 rs767104853	1026	H>L		No	ClinGen ExAC gnomAD
CA2288370 rs751563680	1027	M>R		No	ClinGen ExAC gnomAD
rs759379681 CA2288371	1027	M>V		No	ClinGen ExAC gnomAD
CA351897791 rs1271297127	1028	G>E		No	ClinGen gnomAD
rs1575568775 CA351897805	1028	G>R		No	ClinGen Ensembl
TCGA novel	1031	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2288369 rs766308401	1036	V>L		No	ClinGen ExAC gnomAD
rs766308401 CA351897568	1036	V>M		No	ClinGen ExAC gnomAD
TCGA novel	1037	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2288367 rs773012621	1041	K>R		No	ClinGen ExAC gnomAD
rs1310802188 CA351897401	1044	F>L		No	ClinGen gnomAD
rs1294641230 CA351897354	1047	R>*		No	ClinGen gnomAD
RCV000585374 rs1553640695 CA351897351	1047	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
rs1436322277 CA351897338	1048	L>I		No	ClinGen gnomAD
TCGA novel	1049	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776314891 CA2288364	1052	G>S		No	ClinGen ExAC TOPMed gnomAD
CA2288362 rs745953350	1054	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs774945475 CA2288361	1056	E>G		No	ClinGen ExAC gnomAD
rs1426524992 CA351897137	1057	W>C		No	ClinGen gnomAD
rs75813619 CA2288360 CA2288359	1059	V>L		No	ClinGen ExAC gnomAD
rs1477634387 CA351897010	1063	G>R		No	ClinGen gnomAD
CA351896982 rs1575568703	1064	A>G		No	ClinGen Ensembl
CA351896951 rs1200588459	1066	S>A		No	ClinGen gnomAD
rs564996284 CA71635962	1067	T>A		No	ClinGen 1000Genomes TOPMed
rs1377585498 CA351896920	1067	T>K		No	ClinGen gnomAD
rs1575568690 CA351896910	1068	K>N		No	ClinGen Ensembl
rs754416844 CA2288354	1071	N>D		No	ClinGen ExAC
CA2288353 rs751083091	1071	N>S		No	ClinGen ExAC gnomAD
rs1202622029 CA351896827	1072	Q>R		No	ClinGen gnomAD
rs766255221 CA2288352	1074	R>C		No	ClinGen ExAC TOPMed gnomAD
rs768271461 CA71635933	1074	R>H		No	ClinGen TOPMed gnomAD
rs61756345 CA71635923	1075	F>L		No	ClinGen ESP TOPMed gnomAD
rs1369405674 CA351896629	1081	Q>E		No	ClinGen gnomAD
CA351896632 rs1369405674	1081	Q>K		No	ClinGen gnomAD
CA71635907 rs868538857	1083	K>E		No	ClinGen Ensembl
rs1559496502 CA351896595	1083	K>R		No	ClinGen Ensembl
rs758360626 CA2288351	1086	I>V		No	ClinGen ExAC gnomAD
TCGA novel	1087	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1452326060 CA351896481	1089	R>S		No	ClinGen TOPMed
CA351896485 rs1257946580	1089	R>T		No	ClinGen gnomAD
rs1559496450 CA351896477	1090	S>P		No	ClinGen Ensembl
rs1389359921 CA351896400	1094	L>M		No	ClinGen gnomAD
CA2288336 CA2288337 rs371050869	1096	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA351896332 rs1393829676	1097	M>T		No	ClinGen TOPMed
rs1454077803 CA351896293	1099	V>L		No	ClinGen TOPMed
CA351896265 rs1303281301	1100	Q>R		No	ClinGen gnomAD
rs1013024921 CA71635778	1102	G>R		No	ClinGen TOPMed
rs1702570767 RCV001192890	1103	Y>C		No	ClinVar dbSNP
CA351896162 rs1373329654	1106	D>E		No	ClinGen gnomAD
rs1160405354 CA351896136	1108	V>L		No	ClinGen gnomAD
CA351896087 rs1463183477	1111	W>C		No	ClinGen TOPMed
CA351896034 rs1420188084	1115	Q>*		No	ClinGen gnomAD
rs746482048 CA2288335	1115	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA351896002 rs1213981610	1118	A>T		No	ClinGen TOPMed
CA71634128 rs941639397	1119	A>S		No	ClinGen TOPMed
CA71634117 rs199573413	1120	E>K		No	ClinGen Ensembl
CA351895978 rs1194817424	1121	E>D		No	ClinGen gnomAD
rs1426286180 CA351895980	1121	E>G		No	ClinGen gnomAD
rs763366235 CA2288323	1122	D>G		No	ClinGen ExAC TOPMed gnomAD
CA351895956 rs1260266071	1124	T>I		No	ClinGen gnomAD
rs1212091493 CA351895950	1125	Q>H		No	ClinGen TOPMed gnomAD
rs867663436 CA71634105	1125	Q>K		No	ClinGen Ensembl
rs1489187750 CA351895933	1127	Q>H		No	ClinGen TOPMed gnomAD
rs1265472340 CA351895926	1128	H>Q		No	ClinGen gnomAD
rs1332183516 CA351895913	1130	D>G		No	ClinGen gnomAD
CA2288322 rs773701354	1130	D>N		No	ClinGen ExAC gnomAD
rs1332183516 CA351895912	1130	D>V		No	ClinGen gnomAD
rs1055233963 CA71634081	1131	S>C		No	ClinGen TOPMed
CA2288321 rs770214865	1132	S>F		No	ClinGen ExAC gnomAD
rs776890647 CA351895891	1134	D>H		No	ClinGen ExAC TOPMed gnomAD
CA2288319 rs776890647	1134	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1391586729 CA351895869	1137	T>I		No	ClinGen gnomAD
rs1391586729 CA351895868	1137	T>N		No	ClinGen gnomAD
CA71634052 rs867919882	1139	S>*		No	ClinGen Ensembl
CA351895823 rs1460117891	1144	N>S		No	ClinGen gnomAD
CA351895787 rs1162175211	1149	M>L		No	ClinGen TOPMed
CA351895776 rs1475298548	1150	S>C		No	ClinGen TOPMed gnomAD
CA351895775 rs1475298548	1150	S>F		No	ClinGen TOPMed gnomAD
rs771634906 CA2288315	1154	L>V		No	ClinGen ExAC gnomAD
rs1212504028 CA351895720	1158	K>N		No	ClinGen gnomAD
CA71634025 rs751607153	1159	V>I		No	ClinGen Ensembl
CA2288312 rs369059292	1161	E>G		No	ClinGen ESP ExAC
CA351895660 rs1466914723	1167	D>G		No	ClinGen gnomAD
rs1400287615 CA351895664	1167	D>N		No	ClinGen TOPMed
CA351895652 rs1337825991	1168	A>G		No	ClinGen TOPMed
rs1195963469 CA351895656	1168	A>T		No	ClinGen gnomAD
CA2288293 rs749242036	1170	G>R		No	ClinGen ExAC gnomAD
rs777708678 CA2288292	1171	R>*		No	ClinGen ExAC gnomAD
CA2288291 rs200043349	1171	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1375163082 CA351895612	1173	V>F		No	ClinGen gnomAD
CA351895614 rs1375163082	1173	V>I		No	ClinGen gnomAD
CA2288289 rs780372964	1174	N>S		No	ClinGen ExAC TOPMed
rs758578708 CA2288288	1176	L>I		No	ClinGen ExAC gnomAD
CA351895590 rs1349960311	1176	L>P		No	ClinGen TOPMed
CA351895584 rs1381669519	1177	K>R		No	ClinGen gnomAD
rs1280895431 CA351895564	1180	S>P		No	ClinGen TOPMed
rs1441188108 CA351895557	1181	P>S		No	ClinGen TOPMed
rs1158617573 CA351895541	1183	D>E		No	ClinGen gnomAD
CA2288287 rs535234636	1186	K>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs376036396 CA2288286	1187	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs373228314 CA2288285	1190	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs534487496 CA2288283	1191	A>T		No	ClinGen ExAC TOPMed gnomAD
rs760982587 CA2288282 COSM1043365	1191	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA2288280 rs767170715	1193	V>A		No	ClinGen ExAC gnomAD
CA71633807 rs1026567968	1194	E>D		No	ClinGen Ensembl
CA351895468 rs1263810161	1194	E>V		No	ClinGen TOPMed gnomAD
RCV001301071 rs1702473280	1197	D>H		No	ClinVar dbSNP
rs767831760 CA2288259	1198	K>R		No	ClinGen ExAC gnomAD
CA351895420 rs1478686652	1199	V>G		No	ClinGen gnomAD
CA71632405 rs886127233	1201	S>C		No	ClinGen Ensembl
CA351895388 rs1248583050	1204	R>Q		No	ClinGen gnomAD
rs1214386792 CA351895375	1206	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs766070395 CA2288256	1207	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1208	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2288255 rs762502755	1209	A>S		No	ClinGen ExAC gnomAD
rs202045855 CA2288254	1209	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2288253 rs775581953	1210	G>*		No	ClinGen ExAC gnomAD
rs775581953 CA71632370	1210	G>R		No	ClinGen ExAC gnomAD
rs748145044 CA2288252	1210	G>V		No	ClinGen ExAC gnomAD
CA351894954 rs1559494154	1212	S>C		No	ClinGen Ensembl
rs1370339260 CA351894950	1213	G>E		No	ClinGen gnomAD
rs768399732 CA2288250	1215	A>T		No	ClinGen ExAC gnomAD
CA351894933 rs1441005998	1216	I>V		No	ClinGen gnomAD
rs575822857 CA2288249	1217	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1323511255 CA351894915	1218	G>V		No	ClinGen gnomAD
rs778941587 CA2288248	1220	V>D		No	ClinGen ExAC gnomAD
CA2288247 rs757532708	1221	G>R		No	ClinGen ExAC gnomAD
rs1427175440 CA351894885	1223	P>R		No	ClinGen gnomAD
CA2288246 rs749338596	1223	P>S		No	ClinGen ExAC gnomAD
rs1194112676 CA351894875	1225	V>M		No	ClinGen TOPMed gnomAD
CA71632336 rs980344015	1226	K>R		No	ClinGen TOPMed gnomAD
rs868144278 CA71632332	1228	L>F		No	ClinGen Ensembl
CA71632325 rs969883654	1228	L>H		No	ClinGen TOPMed
rs374961196 CA2288244	1229	Q>H		No	ClinGen ESP ExAC
rs1481069366 CA351894814	1234	M>V		No	ClinGen gnomAD
rs555678688 CA2288240	1237	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs765906123 CA2288239	1238	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1238	Y>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351894760 rs1281680192	1242	I>V		No	ClinGen gnomAD
CA351894750 rs1234136744	1243	I>S		No	ClinGen gnomAD
rs749929449 CA2288238	1246	I>S		No	ClinGen ExAC gnomAD
rs749929449 CA2288237	1246	I>T		No	ClinGen ExAC gnomAD
CA2288235 rs761832827	1248	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2288236 rs761832827	1248	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA351894717 rs1394927951	1249	M>V		No	ClinGen TOPMed
CA351894701 rs1373594960	1251	A>T		No	ClinGen gnomAD
rs1439761739 CA351894683	1253	A>G		No	ClinGen gnomAD
COSM1043363 rs1297460082 CA351894687	1253	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	1253	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1376988121 CA351894676	1254	S>N		No	ClinGen gnomAD
rs1174211425 CA351894652	1257	L>F		No	ClinGen gnomAD
rs768648887 CA71632274	1258	L>Q		No	ClinGen ExAC gnomAD
CA2288233 rs768648887	1258	L>R		No	ClinGen ExAC gnomAD
CA2288232 rs760336286	1259	K>T		No	ClinGen ExAC gnomAD
CA2288231 rs775398433	1261	K>N		No	ClinGen ExAC gnomAD
CA2288230 rs771122264	1262	K>R		No	ClinGen ExAC gnomAD
TCGA novel	1263	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1236659306 CA351894582	1266	D>G		No	ClinGen TOPMed
CA351894575 rs1301841330	1267	T>I		No	ClinGen TOPMed
CA351894567 rs1419097094	1268	A>V		No	ClinGen gnomAD
rs761346137 CA351894563	1269	A>E		No	ClinGen ExAC TOPMed gnomAD
rs761346137 CA2288216	1269	A>V		No	ClinGen ExAC TOPMed gnomAD
rs374639096 CA71630280	1270	V>I		No	ClinGen ESP TOPMed gnomAD
rs374639096 CA71630278	1270	V>L		No	ClinGen ESP TOPMed gnomAD
rs1265982013 CA351894529	1274	F>S		No	ClinGen gnomAD
rs370835943 CA351894515	1275	D>A		No	ClinGen ESP TOPMed gnomAD
CA71630268 rs370835943	1275	D>G		No	ClinGen ESP TOPMed gnomAD
CA351894375 rs1259590962	1285	G>S		No	ClinGen gnomAD
CA351894366 rs1213271286	1285	G>V		No	ClinGen gnomAD
CA351894364 rs1392660662	1286	A>T		No	ClinGen Ensembl
rs1336474982 CA351894347	1287	G>E		No	ClinGen gnomAD
CA71630262 rs545080682	1287	G>R		No	ClinGen 1000Genomes TOPMed
rs763909276 CA2288214	1290	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2288212 rs775137220	1292	T>I		No	ClinGen ExAC gnomAD
CA351894260 rs1382670607	1294	S>T		No	ClinGen gnomAD
rs773366637 CA2288209	1295	V>F		No	ClinGen ExAC TOPMed gnomAD
rs745498342 CA71630245	1297	I>V		No	ClinGen gnomAD
rs576183684 CA2288208	1299	K>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1023791529 CA71630193	1300	G>A		No	ClinGen TOPMed gnomAD
rs970274336 CA71630216	1300	G>C		No	ClinGen Ensembl
rs1023791529 CA71630206	1300	G>D		No	ClinGen TOPMed gnomAD
rs769021123 CA2288205	1301	P>R		No	ClinGen ExAC TOPMed gnomAD
rs776811297 CA2288206	1301	P>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1305	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2288204 rs374634133	1305	R>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1398451866 CA351894069	1308	K>E		No	ClinGen TOPMed gnomAD
rs781031811	1308	K>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs780561278 CA2288202	1309	E>G		No	ClinGen ExAC TOPMed gnomAD
CA2288200 rs746245807	1310	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2288201 rs746245807	1310	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1337749114 CA351893982	1312	T>I		No	ClinGen gnomAD
rs922691747 CA71629565	1314	V>E		No	ClinGen Ensembl
CA71629550 rs1053040496	1315	R>K		No	ClinGen Ensembl
rs1329710272 CA351893911	1317	T>I		No	ClinGen gnomAD
CA2288183 rs746192893	1318	P>S		No	ClinGen ExAC gnomAD
CA2288182 rs17016875	1319	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756849814 CA2288181	1321	S>C		No	ClinGen ExAC TOPMed gnomAD
rs749040597 CA2288180	1322	G>C		No	ClinGen ExAC
rs777299582 CA2288179	1322	G>V		No	ClinGen ExAC gnomAD
rs755593586 CA2288178	1324	P>R		No	ClinGen ExAC gnomAD
rs1365192265 COSM3427487 CA351893811	1326	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA351893770 rs1182016525	1330	K>E		No	ClinGen gnomAD
CA2288176 rs767404382	1332	R>L		No	ClinGen ExAC gnomAD
rs1437042753 CA351893754	1332	R>W		No	ClinGen gnomAD
rs970727542 CA71629493	1337	D>V		No	ClinGen Ensembl
CA351893651 rs1357785946	1340	S>F		No	ClinGen TOPMed
rs754950050 CA2288175	1341	K>R		No	ClinGen ExAC gnomAD
rs751332309 CA2288174	1342	S>L		No	ClinGen ExAC gnomAD
CA351893628 rs1217548503	1343	E>K		No	ClinGen gnomAD
CA351893614 rs1352852717	1344	S>G		No	ClinGen gnomAD
rs766218507 CA2288173	1344	S>R		No	ClinGen ExAC gnomAD
CA2288172 rs761936230	1346	L>*		No	ClinGen ExAC gnomAD
rs1334394723 CA351893572	1346	L>F		No	ClinGen gnomAD
TCGA novel	1348	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1315150677 CA351893546	1348	E>G		No	ClinGen gnomAD
CA2288171 rs776846543	1353	V>I		No	ClinGen ExAC TOPMed
CA2288170 rs561264666	1354	I>L		No	ClinGen 1000Genomes ExAC gnomAD
CA71629474 rs867534073	1355	P>S		No	ClinGen Ensembl
rs1409477202 CA351893411	1358	S>C		No	ClinGen TOPMed gnomAD
rs760755554 CA2288169	1360	L>V		No	ClinGen ExAC gnomAD
rs1469283526 CA351893374	1361	R>T		No	ClinGen gnomAD
rs984814787 CA71624192	1366	E>K		No	ClinGen gnomAD
CA351892849 rs1235974436	1373	D>H		No	ClinGen TOPMed
CA351892829 rs1559492059	1374	F>C		No	ClinGen Ensembl
rs1257386336 CA351892801	1377	E>K		No	ClinGen TOPMed
CA2288158 rs538155573	1378	E>K		No	ClinGen 1000Genomes ExAC gnomAD
RCV001306518 rs754798424	1378	E>missing		No	ClinVar dbSNP
rs1337732642 CA351892751	1379	D>E		No	ClinGen gnomAD
CA2288156 rs139649989	1380	D>A		No	ClinGen 1000Genomes ExAC gnomAD
CA2288155 RCV001310479 rs779856514	1380	D>E		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA351892730 rs1214501209	1381	D>A		No	ClinGen gnomAD
CA71624153 rs1029237923	1381	D>N		No	ClinGen Ensembl
COSM149342 CA351892717 rs1307919022	1382	A>D	Variant assessed as Somatic; 0.0 impact. stomach [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA2288154 rs369748980	1383	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs369748980 CA351892701	1383	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs766683917 CA71624145	1384	D>A		No	ClinGen Ensembl
CA71624137 rs905375654	1384	D>E		No	ClinGen TOPMed gnomAD
rs750206462 CA2288153	1385	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA351892651 rs1433538123	1386	D>G		No	ClinGen TOPMed
rs764336382 CA2288152	1387	D>Y		No	ClinGen ExAC gnomAD
rs746857248	1388	D>missing	Variant assessed as Somatic; 5.893e-05 impact. [NCI-TCGA]	No	NCI-TCGA
rs1469509639 CA351892599	1389	N>D		No	ClinGen TOPMed
rs1433725542 CA351892562	1391	D>Y		No	ClinGen gnomAD
rs1327532516 CA351892512	1394	E>K		No	ClinGen TOPMed gnomAD
CA351892500 rs115100264	1395	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs61751635 CA2288145	1398	K>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs774941339 CA2288144	1399	A>P		No	ClinGen ExAC gnomAD
rs1171171856 CA351892469	1399	A>V		No	ClinGen gnomAD
TCGA novel	1401	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2288141 rs566991124	1401	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA351892456 rs1194552177	1402	I>V		No	ClinGen gnomAD
rs1343214280 CA351892447	1403	T>K		No	ClinGen TOPMed
rs1343214280 RCV001280715 CA351892446	1403	T>R		No	ClinGen ClinVar TOPMed dbSNP
CA2288140 rs769468426	1406	G>R		No	ClinGen ExAC gnomAD
rs200166487 CA2288139	1408	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA2288138 rs780673104	1409	E>D		No	ClinGen ExAC TOPMed gnomAD
CA71624074 rs937253830	1411	V>I		No	ClinGen TOPMed gnomAD
CA351892393 rs937253830	1411	V>L		No	ClinGen TOPMed gnomAD
CA351892387 rs1575562317	1412	P>A		No	ClinGen Ensembl
TCGA novel	1415	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768083848 CA2288137	1418	K>E		No	ClinGen ExAC gnomAD
rs1441252536 CA351892325	1420	E>D		No	ClinGen gnomAD
CA2288135 rs202024012	1421	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA351892296 rs1354851315	1425	P>A		No	ClinGen TOPMed gnomAD
CA351892295 rs1354851315	1425	P>S		No	ClinGen TOPMed gnomAD
CA71624054 rs925047330	1426	G>D		No	ClinGen TOPMed gnomAD
CA71624039 rs74958133	1428	S>*		No	ClinGen Ensembl
rs1397024084 CA351892272	1429	K>E		No	ClinGen gnomAD
CA71624014 rs376657102	1430	A>T		No	ClinGen ESP TOPMed
rs1169845159 CA351892260	1431	T>P		No	ClinGen TOPMed
CA351892251 rs1454051920	1432	P>L		No	ClinGen TOPMed gnomAD
rs1459928196 CA351892243	1433	E>V		No	ClinGen TOPMed
CA351892224 rs1217564585	1434	K>R		No	ClinGen gnomAD
rs1317130367 CA351892215	1435	S>F		No	ClinGen TOPMed gnomAD
rs1317130367 CA351892217	1435	S>Y		No	ClinGen TOPMed gnomAD
CA71623094 rs1031171127	1437	H>R		No	ClinGen TOPMed
CA71623093 rs944696965	1438	D>E		No	ClinGen TOPMed gnomAD
rs1308794847 CA351892193	1439	K>Q		No	ClinGen TOPMed
CA351892184 rs1357072633	1440	K>E		No	ClinGen gnomAD
CA351892183 rs1357072633	1440	K>Q		No	ClinGen gnomAD
TCGA novel	1441	S>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA71623076 rs911869283	1441	S>R		No	ClinGen Ensembl
rs1293862281	1441	S>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1443	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2288118 rs746482078	1446	N>Y		No	ClinGen ExAC TOPMed gnomAD
CA2288117 rs369645443	1447	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1354762612	1448	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1290694927 CA351892115	1449	S>L		No	ClinGen gnomAD
CA351892078 rs1454562451	1455	Q>*		No	ClinGen gnomAD
rs1388182853 CA351892075	1455	Q>L		No	ClinGen gnomAD
rs1157141731 CA351892069	1456	K>T		No	ClinGen gnomAD
CA71623035 rs1043941524	1457	S>P		No	ClinGen TOPMed gnomAD
CA71623027 rs550510329	1458	E>K		No	ClinGen 1000Genomes gnomAD
rs772022318 CA2288116	1459	D>V		No	ClinGen ExAC gnomAD
rs370666167 CA2288101	1461	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1187202113 CA351891895	1463	K>I		No	ClinGen TOPMed
CA351891859 rs1267880131	1465	D>G		No	ClinGen gnomAD
TCGA novel	1466	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351891812 rs1353921390	1468	E>G		No	ClinGen gnomAD
rs1264411814 CA351891794	1469	E>G		No	ClinGen TOPMed
rs771418956 CA2288099	1470	D>G		No	ClinGen ExAC TOPMed gnomAD
COSM264141 rs1253027961 CA351891782	1470	D>Y	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA351891719 rs1188531188	1475	F>L		No	ClinGen TOPMed
rs745398662 CA2288098	1476	S>L		No	ClinGen ExAC TOPMed gnomAD
rs954666241 CA71621710	1476	S>P		No	ClinGen Ensembl
CA351891691 rs1295466684	1477	P>L		No	ClinGen gnomAD
rs1372001389 CA351891658	1480	G>C		No	ClinGen gnomAD
TCGA novel	1484	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351891597 rs1323070037	1485	D>Y		No	ClinGen gnomAD
TCGA novel	1486	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771023574 CA2288096	1487	V>I		No	ClinGen ExAC gnomAD
rs749064753 CA2288095	1489	S>G		No	ClinGen ExAC gnomAD
rs1022708055 CA71621674	1491	T>A		No	ClinGen TOPMed gnomAD
rs61751634 CA2288094	1491	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2288092 rs747263680	1494	A>G		No	ClinGen ExAC gnomAD
CA71621660 rs895655528	1494	A>T		No	ClinGen TOPMed
CA2288091 rs780325291	1496	K>R		No	ClinGen ExAC gnomAD
RCV001304845 rs780325291	1496	K>T		No	ClinVar dbSNP
CA71617747 rs970848715	1498	K>E		No	ClinGen TOPMed
CA2288079 rs375477555	1499	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA351891265 rs1212879437	1501	S>L		No	ClinGen gnomAD
CA351891264 rs1462307050	1502	D>N		No	ClinGen gnomAD
rs1417575880 CA351891255	1502	D>V		No	ClinGen gnomAD
rs370334603 CA71617686	1503	T>I		No	ClinGen ESP TOPMed gnomAD
rs572010388 CA2288076	1503	T>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2288077 rs572010388	1503	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2288075 rs773139821	1504	V>F		No	ClinGen ExAC gnomAD
rs1192587351 CA351891219	1505	P>L		No	ClinGen gnomAD
rs114586748 CA2288074	1505	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2288072 rs780086570	1507	P>L		No	ClinGen ExAC gnomAD
CA2288073 rs372987117	1507	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1463564581 CA351891191	1508	K>E		No	ClinGen TOPMed gnomAD
rs370692332 CA71617628	1508	K>R		No	ClinGen ESP TOPMed
CA351891154 rs1340603495	1510	A>V		No	ClinGen gnomAD
CA2288070 rs745904730	1512	K>E		No	ClinGen ExAC TOPMed gnomAD
CA2288068 rs757745774	1514	K>N		No	ClinGen ExAC gnomAD
rs754408618 CA2288067	1515	K>Q		No	ClinGen ExAC gnomAD
CA2288065 rs756386480	1517	V>I		No	ClinGen ExAC gnomAD
rs377505092 CA71617562	1518	E>Q		No	ClinGen ESP
rs1473075676 CA351891012	1520	V>L		No	ClinGen gnomAD
TCGA novel	1521	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1237041601 CA351890993	1521	N>S		No	ClinGen TOPMed gnomAD
CA351890980 rs1185509246	1522	S>Y		No	ClinGen gnomAD
rs1026762780 CA71617557	1523	D>N		No	ClinGen Ensembl
CA2288064 rs374212244	1524	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA71617548 rs997012390	1524	S>T		No	ClinGen Ensembl
CA2288062 rs759285369	1530	I>F		No	ClinGen ExAC gnomAD
rs536401162 CA71617491	1530	I>M		No	ClinGen 1000Genomes TOPMed gnomAD
CA351890865 rs1216301360	1531	P>A		No	ClinGen TOPMed gnomAD
rs766056779 CA2288061	1531	P>L		No	ClinGen ExAC gnomAD
CA2288060 rs766056779	1531	P>R		No	ClinGen ExAC gnomAD
rs762560179 CA2288059	1532	K>E		No	ClinGen ExAC gnomAD
rs1445197376 CA351890811	1535	T>A		No	ClinGen gnomAD
rs773221985 CA2288057	1536	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1433868032 CA351890796	1536	T>I		No	ClinGen gnomAD
CA351890801 rs773221985	1536	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1339969530 CA351890789	1537	P>S		No	ClinGen gnomAD
CA2288056 rs769790327	1538	K>E		No	ClinGen ExAC TOPMed gnomAD
CA71617459 rs769790327	1538	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA2288055 rs761472190	1539	G>C		No	ClinGen ExAC TOPMed gnomAD
CA351890428 rs1483663562	1540	K>E		No	ClinGen gnomAD
rs749334778 CA2288032	1542	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs773390957 CA2288031	1544	A>P		No	ClinGen ExAC gnomAD
CA2288030 rs770192435	1545	K>Q		No	ClinGen ExAC gnomAD
rs1302994452 CA351890379	1547	R>S		No	ClinGen gnomAD
rs748760684 CA2288029	1549	A>T		No	ClinGen ExAC gnomAD
rs549547888 CA2288026	1551	G>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1307278441 CA351890344	1553	E>G		No	ClinGen gnomAD
rs1427932181 CA351890336	1554	N>S		No	ClinGen gnomAD
CA2288022 rs764860175	1557	D>N	Variant assessed as Somatic; 4.643e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1179318345 CA351890279	1562	R>K		No	ClinGen gnomAD
CA351890257 rs1281095780	1565	S>Y		No	ClinGen TOPMed
RCV000974971 CA2288019 rs17016865	1568	T>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA71615469 rs924112348	1568	T>R		No	ClinGen TOPMed
CA351890235 rs1164724604	1569	S>G		No	ClinGen Ensembl
rs760424687 CA2288018	1569	S>I		No	ClinGen ExAC gnomAD
CA351890228 rs1453970005	1570	K>E		No	ClinGen TOPMed gnomAD
rs1453970005 CA351890229	1570	K>Q		No	ClinGen TOPMed gnomAD
CA2287988 COSM1633105 rs777658332	1571	K>T	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs62638670 CA2287987	1572	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA71614168 rs375861627	1574	K>T		No	ClinGen ESP TOPMed gnomAD
rs767371578 CA2287985	1576	S>A		No	ClinGen ExAC gnomAD
rs745816721 RCV001323462	1576	S>missing		No	ClinVar dbSNP
rs759335330 CA2287984	1576	S>C		No	ClinGen ExAC gnomAD
TCGA novel	1576	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761909414 CA2287980	1580	D>A		No	ClinGen ExAC gnomAD
CA351890144 rs576675356	1580	D>E		No	ClinGen TOPMed gnomAD
rs765403902 CA2287981	1580	D>H		No	ClinGen ExAC TOPMed gnomAD
CA351890148 rs765403902	1580	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1382823491 CA541717187	1581	S>*		No	ClinGen gnomAD
rs371211985 CA2287975	1587	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA351890089 rs1489309812	1588	S>L		No	ClinGen gnomAD
CA2287974 rs775992395	1589	D>G		No	ClinGen ExAC gnomAD
CA351890077 rs1383866836	1590	F>S		No	ClinGen TOPMed
rs1575556818 CA351890068	1591	P>L		No	ClinGen Ensembl
rs374901845 CA71614029	1592	T>N		No	ClinGen ESP
rs894117804 CA71614027	1593	E>K		No	ClinGen TOPMed
rs1229498309 CA351890036	1597	L>V		No	ClinGen gnomAD
CA2287970 rs778588509	1598	P>S		No	ClinGen ExAC TOPMed gnomAD
rs778588509 CA2287969	1598	P>T		No	ClinGen ExAC TOPMed gnomAD
CA2287968 rs770531780	1599	R>*		No	ClinGen ExAC TOPMed gnomAD
CA351890028 rs770531780	1599	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2287967 COSM264140 rs184041688	1599	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs777323473 CA2287966	1600	T>I		No	ClinGen ExAC TOPMed gnomAD
rs777323473 CA351890022	1600	T>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1600	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs192180550 CA2287963	1601	G>A		No	ClinGen 1000Genomes ExAC gnomAD
rs752568171 CA2287964	1601	G>S		No	ClinGen ExAC gnomAD
CA351890013 rs1449475384	1602	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1169938358 CA351890015	1602	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs764317223 CA2287962	1607	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs764317223 CA2287961	1607	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1612	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351889945 rs951523057	1612	E>A		No	ClinGen Ensembl
CA71613984 rs951523057	1612	E>G		No	ClinGen Ensembl
CA351889940 rs1559487871	1613	S>P		No	ClinGen Ensembl
rs111812268 CA71613972	1614	D>E		No	ClinGen Ensembl
CA71613976 rs1025788498	1614	D>Y		No	ClinGen TOPMed
rs1575556701 CA351889906	1615	E>V		No	ClinGen Ensembl
CA2287957 rs61739570	1617	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2287955 rs374745650	1618	D>E		No	ClinGen ESP ExAC TOPMed
rs764335718 CA2287956	1618	D>H		No	ClinGen ExAC TOPMed gnomAD
CA351889557 rs764335718	1618	D>N		No	ClinGen ExAC TOPMed gnomAD
CA2287952 rs776082271	1619	D>V		No	ClinGen ExAC gnomAD
CA2287950 rs187350468	1620	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA351889525 rs1332091071	1623	A>T		No	ClinGen gnomAD
rs1301005143 CA351889514	1624	M>I		No	ClinGen gnomAD
rs774627996 CA2287946	1624	M>V		No	ClinGen ExAC

2 associated diseases with Q02880

[MIM: 609296]: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations (BILU)

An autosomal dominant disorder characterized by humoral immunodeficiency with undetectable B cells, distal limb anomalies, dysmorphic facial features, and urogenital malformations. {ECO:0000269|PubMed:31409799, ECO:0000269|PubMed:32128574, ECO:0000269|PubMed:33459963}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal dominant disorder characterized by humoral immunodeficiency with undetectable B cells, distal limb anomalies, dysmorphic facial features, and urogenital malformations. {ECO:0000269|PubMed:31409799, ECO:0000269|PubMed:32128574, ECO:0000269|PubMed:33459963}. Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for Q02880

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q02880

Functions

		Description
EC Number	5.6.2.2	Enzymes altering nucleic acid conformation
Subcellular Localization	Nucleus, nucleolus Nucleus, nucleoplasm Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
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.
ribonucleoprotein complex	A macromolecular complex that contains both RNA and protein molecules.

10 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
chromatin binding	Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) activity	Catalysis of a DNA topological transformation by transiently cleaving a pair of complementary DNA strands to form a gate through which a second double-stranded DNA segment is passed, after which the severed strands in the first DNA segment are rejoined, driven by ATP hydrolysis. The enzyme changes the linking number in multiples of 2.
enzyme binding	Binding to an enzyme, a protein with catalytic activity.
histone deacetylase binding	Binding to histone deacetylase.
metal ion binding	Binding to a metal ion.
protein C-terminus binding	Binding to a protein C-terminus, the end of a peptide chain at which the 1-carboxyl function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue.
protein heterodimerization activity	Binding to a nonidentical protein to form a heterodimer.
protein kinase C binding	Binding to protein kinase C.

8 GO annotations of biological process

Name	Definition
axonogenesis	De novo generation of a long process of a neuron, including the terminal branched region. Refers to the morphogenesis or creation of shape or form of the developing axon, which carries efferent (outgoing) action potentials from the cell body towards target cells.
B cell differentiation	The process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity.
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.
forebrain development	The process whose specific outcome is the progression of the forebrain over time, from its formation to the mature structure. The forebrain is the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions).
neuron migration	The characteristic movement of an immature neuron from germinal zones to specific positions where they will reside as they mature.
positive regulation of single stranded viral RNA replication via double stranded DNA intermediate	Any process that activates or increases the frequency, rate or extent of retroviral genome replication.
resolution of meiotic recombination intermediates	The cleavage and rejoining of intermediates, such as Holliday junctions, formed during meiotic recombination to produce two intact molecules in which genetic material has been exchanged.
sister chromatid segregation	The cell cycle process in which sister chromatids are organized and then physically separated and apportioned to two or more sets.

6 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P11388	TOP2A	DNA topoisomerase 2-alpha	Homo sapiens (Human)	PR
Q01320	Top2a	DNA topoisomerase 2-alpha	Mus musculus (Mouse)	PR
Q64511	Top2b	DNA topoisomerase 2-beta	Mus musculus (Mouse)	PR
O46374	TOP2A	DNA topoisomerase 2-alpha	Sus scrofa (Pig)	PR
P41516	Top2a	DNA topoisomerase 2-alpha	Rattus norvegicus (Rat)	PR
Q23670	top-2	DNA topoisomerase 2 top-2	Caenorhabditis elegans	PR

10	20	30	40	50	60
MAKSGGCGAG	AGVGGGNGAL	TWVTLFDQNN	AAKKEESETA	NKNDSSKKLS	VERVYQKKTQ
70	80	90	100	110	120
LEHILLRPDT	YIGSVEPLTQ	FMWVYDEDVG	MNCREVTFVP	GLYKIFDEIL	VNAADNKQRD
130	140	150	160	170	180
KNMTCIKVSI	DPESNIISIW	NNGKGIPVVE	HKVEKVYVPA	LIFGQLLTSS	NYDDDEKKVT
190	200	210	220	230	240
GGRNGYGAKL	CNIFSTKFTV	ETACKEYKHS	FKQTWMNNMM	KTSEAKIKHF	DGEDYTCITF
250	260	270	280	290	300
QPDLSKFKME	KLDKDIVALM	TRRAYDLAGS	CRGVKVMFNG	KKLPVNGFRS	YVDLYVKDKL
310	320	330	340	350	360
DETGVALKVI	HELANERWDV	CLTLSEKGFQ	QISFVNSIAT	TKGGRHVDYV	VDQVVGKLIE
370	380	390	400	410	420
VVKKKNKAGV	SVKPFQVKNH	IWVFINCLIE	NPTFDSQTKE	NMTLQPKSFG	SKCQLSEKFF
430	440	450	460	470	480
KAASNCGIVE	SILNWVKFKA	QTQLNKKCSS	VKYSKIKGIP	KLDDANDAGG	KHSLECTLIL
490	500	510	520	530	540
TEGDSAKSLA	VSGLGVIGRD	RYGVFPLRGK	ILNVREASHK	QIMENAEINN	IIKIVGLQYK
550	560	570	580	590	600
KSYDDAESLK	TLRYGKIMIM	TDQDQDGSHI	KGLLINFIHH	NWPSLLKHGF	LEEFITPIVK
610	620	630	640	650	660
ASKNKQELSF	YSIPEFDEWK	KHIENQKAWK	IKYYKGLGTS	TAKEAKEYFA	DMERHRILFR
670	680	690	700	710	720
YAGPEDDAAI	TLAFSKKKID	DRKEWLTNFM	EDRRQRRLHG	LPEQFLYGTA	TKHLTYNDFI
730	740	750	760	770	780
NKELILFSNS	DNERSIPSLV	DGFKPGQRKV	LFTCFKRNDK	REVKVAQLAG	SVAEMSAYHH
790	800	810	820	830	840
GEQALMMTIV	NLAQNFVGSN	NINLLQPIGQ	FGTRLHGGKD	AASPRYIFTM	LSTLARLLFP
850	860	870	880	890	900
AVDDNLLKFL	YDDNQRVEPE	WYIPIIPMVL	INGAEGIGTG	WACKLPNYDA	REIVNNVRRM
910	920	930	940	950	960
LDGLDPHPML	PNYKNFKGTI	QELGQNQYAV	SGEIFVVDRN	TVEITELPVR	TWTQVYKEQV
970	980	990	1000	1010	1020
LEPMLNGTDK	TPALISDYKE	YHTDTTVKFV	VKMTEEKLAQ	AEAAGLHKVF	KLQTTLTCNS
1030	1040	1050	1060	1070	1080
MVLFDHMGCL	KKYETVQDIL	KEFFDLRLSY	YGLRKEWLVG	MLGAESTKLN	NQARFILEKI
1090	1100	1110	1120	1130	1140
QGKITIENRS	KKDLIQMLVQ	RGYESDPVKA	WKEAQEKAAE	EDETQNQHDD	SSSDSGTPSG
1150	1160	1170	1180	1190	1200
PDFNYILNMS	LWSLTKEKVE	ELIKQRDAKG	REVNDLKRKS	PSDLWKEDLA	AFVEELDKVE
1210	1220	1230	1240	1250	1260
SQEREDVLAG	MSGKAIKGKV	GKPKVKKLQL	EETMPSPYGR	RIIPEITAMK	ADASKKLLKK
1270	1280	1290	1300	1310	1320
KKGDLDTAAV	KVEFDEEFSG	APVEGAGEEA	LTPSVPINKG	PKPKREKKEP	GTRVRKTPTS
1330	1340	1350	1360	1370	1380
SGKPSAKKVK	KRNPWSDDES	KSESDLEETE	PVVIPRDSLL	RRAAAERPKY	TFDFSEEEDD
1390	1400	1410	1420	1430	1440
DADDDDDDNN	DLEELKVKAS	PITNDGEDEF	VPSDGLDKDE	YTFSPGKSKA	TPEKSLHDKK
1450	1460	1470	1480	1490	1500
SQDFGNLFSF	PSYSQKSEDD	SAKFDSNEED	SASVFSPSFG	LKQTDKVPSK	TVAAKKGKPS
1510	1520	1530	1540	1550	1560
SDTVPKPKRA	PKQKKVVEAV	NSDSDSEFGI	PKKTTTPKGK	GRGAKKRKAS	GSENEGDYNP
1570	1580	1590	1600	1610	1620
GRKTSKTTSK	KPKKTSFDQD	SDVDIFPSDF	PTEPPSLPRT	GRARKEVKYF	AESDEEEDDV

DFAMFN