AiPD: Autoinhibited Protein Database

Q9Y3T9

Gene name	NOC2L (NIR)
Protein name	Nucleolar complex protein 2 homolog
Names	Protein NOC2 homolog, NOC2-like protein, Novel INHAT repressor
Species	Homo sapiens (Human)
KEGG Pathway	hsa:26155
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

5-84 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

5-84 (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

5 structures for Q9Y3T9

Entry ID	Method	Resolution	Chain	Position	Source
8FKV	EM	247 A	NA	1-749	PDB
8FKW	EM	250 A	NA	1-749	PDB
8FKX	EM	259 A	NA	1-749	PDB
8FKY	EM	267 A	NA	1-749	PDB
AF-Q9Y3T9-F1	Predicted				AlphaFoldDB

888 variants for Q9Y3T9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1424179005	1	M>?	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA337860209 rs1451578655	2	A>V		No	ClinGen TOPMed gnomAD
rs777464521 CA504884	3	A>G		No	ClinGen ExAC TOPMed gnomAD
rs751323008 CA504886	3	A>S		No	ClinGen ExAC gnomAD
CA504885 rs751323008	3	A>T		No	ClinGen ExAC gnomAD
rs777464521 CA337860163	3	A>V		No	ClinGen ExAC TOPMed gnomAD
CA504883 rs758258147	4	A>T		No	ClinGen ExAC TOPMed gnomAD
rs140357200 CA504881	4	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA504880 rs766646410	5	G>E		No	ClinGen ExAC TOPMed gnomAD
CA337860089 rs1332194627	5	G>R		No	ClinGen TOPMed
rs199568295 CA16751210	6	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA504878 rs199568295	6	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs147719505 CA504877	7	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs147719505 CA337859990	7	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs762248835 CA337859987	7	R>H		No	ClinGen ExAC TOPMed gnomAD
CA504876 rs762248835	7	R>P		No	ClinGen ExAC TOPMed gnomAD
CA337859991 rs147719505	7	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA504874 rs768867769	8	K>E		No	ClinGen ExAC gnomAD
CA504836 rs140070898	12	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs551203562 CA16750937	13	E>K		No	ClinGen 1000Genomes TOPMed gnomAD
CA337859534 rs776138989	15	T>M		No	ClinGen ExAC TOPMed gnomAD
CA504835 rs776138989	15	T>R		No	ClinGen ExAC TOPMed gnomAD
CA337859508 rs1569961742	16	V>G		No	ClinGen Ensembl
rs1365774663 CA337859483	17	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1198406858 CA337859490	17	D>N		No	ClinGen TOPMed
CA504831 rs772794670	19	F>C		No	ClinGen ExAC gnomAD
CA337859439 rs1569961711	19	F>V		No	ClinGen Ensembl
CA337859376 rs1196463457	21	A>P		No	ClinGen TOPMed
CA504828 rs774308660	21	A>V		No	ClinGen ExAC TOPMed gnomAD
CA504827 rs768412867	23	G>S		No	ClinGen ExAC TOPMed gnomAD
rs749164589 CA504825	24	F>L		No	ClinGen ExAC
rs749164589 CA504826	24	F>V		No	ClinGen ExAC
rs757503620 CA337859235	25	D>E		No	ClinGen ExAC gnomAD
rs781265425 CA504823	25	D>H		No	ClinGen ExAC TOPMed gnomAD
rs529239702 CA16750852	26	S>A		No	ClinGen Ensembl
CA504821 rs747001647	26	S>F		No	ClinGen ExAC gnomAD
rs910730866 CA16750810	27	E>*		No	ClinGen TOPMed
CA504819 rs778032813	27	E>G		No	ClinGen ExAC gnomAD
CA16750797 rs985001701	28	S>F		No	ClinGen TOPMed gnomAD
CA337859148 rs1444970492	28	S>P		No	ClinGen TOPMed
CA504817 rs748591290	30	S>T		No	ClinGen ExAC gnomAD
CA504815 rs755297883	32	S>F		No	ClinGen ExAC gnomAD
rs1408964970 CA337859059	32	S>P		No	ClinGen gnomAD
CA16750785 rs993540056	33	E>K		No	ClinGen TOPMed
rs200036735 CA504813	36	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA504811 rs375481825	37	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA504810 rs375481825	37	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA504809 rs766979552	37	Q>R		No	ClinGen ExAC gnomAD
rs1180546729 CA337858928	38	A>E		No	ClinGen gnomAD
rs761357057 CA337858935	38	A>P		No	ClinGen ExAC gnomAD
CA504808 rs761357057	38	A>T		No	ClinGen ExAC gnomAD
rs768646282 CA504806	40	T>R		No	ClinGen ExAC gnomAD
CA504804 rs775367747	41	R>G		No	ClinGen ExAC gnomAD
CA504805 rs775367747	41	R>W		No	ClinGen ExAC gnomAD
CA504803 rs771020504	43	A>G		No	ClinGen ExAC gnomAD
CA337858837 rs1216544911	44	R>C		No	ClinGen gnomAD
rs1216544911 CA337858838	44	R>G		No	ClinGen gnomAD
rs747224291 CA504802	44	R>H		No	ClinGen ExAC TOPMed gnomAD
CA337858830 rs1227644216	45	E>K		No	ClinGen gnomAD
CA504798 rs779499305	47	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA337858757 rs1223809416	48	R>Q		No	ClinGen TOPMed
rs755524938 CA504797	49	S>R		No	ClinGen ExAC TOPMed gnomAD
CA504796 rs754105178	50	P>S		No	ClinGen ExAC gnomAD
rs1445086522 CA337858713	51	D>H		No	ClinGen TOPMed
rs1445086522 CA337858715	51	D>N		No	ClinGen TOPMed
CA504795 rs144217019	53	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1376607530 CA337858678	53	P>S		No	ClinGen TOPMed
rs373754985 CA337858620	56	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA337858618 rs1216043448	57	P>S		No	ClinGen Ensembl
rs201512962 CA504790	58	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774139591 CA504694	61	R>Q		No	ClinGen ExAC gnomAD
rs762293011 CA504695	61	R>W		No	ClinGen ExAC TOPMed gnomAD
rs373824797 CA16748044	62	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs373824797 CA504693	62	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA504692 rs185378741	62	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA504691 rs199899191	63	K>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1487546903 CA337856939	64	G>A		No	ClinGen TOPMed gnomAD
rs1487546903 CA337856937	64	G>D		No	ClinGen TOPMed gnomAD
CA504690 rs769731077	65	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1216437327 CA337856923	65	R>H		No	ClinGen gnomAD
CA16748043 rs1052153818	66	A>V		No	ClinGen TOPMed gnomAD
CA337856868 rs1569956343	67	S>A		No	ClinGen Ensembl
CA504688 rs376536035	69	H>R		No	ClinGen ESP ExAC TOPMed
CA337856660 rs1323902833	72	Q>*		No	ClinGen gnomAD
rs751376082 CA337856645	72	Q>H		No	ClinGen ExAC gnomAD
rs912729102 CA16747994	72	Q>R		No	ClinGen TOPMed
CA504683 rs755215778	75	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs200571394 CA504684	75	R>W		No	ClinGen 1000Genomes ExAC gnomAD
CA337856580 rs1288906665	76	L>V		No	ClinGen TOPMed gnomAD
CA504682 rs753878460	77	K>M		No	ClinGen ExAC
rs1235395053 CA337856528	78	D>E		No	ClinGen TOPMed
rs1391446125 CA337856526	79	R>G		No	ClinGen gnomAD
CA337856515 rs1319029019	79	R>S		No	ClinGen gnomAD
rs1360039397 CA337856464	81	P>S		No	ClinGen gnomAD
rs768133755 CA504678	82	E>G		No	ClinGen ExAC TOPMed gnomAD
rs773930857 CA16747976	82	E>K		No	ClinGen TOPMed gnomAD
TCGA novel	82	E>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1557623434 CA337856317	85	K>E		No	ClinGen Ensembl
rs762014153 CA504677	85	K>R		No	ClinGen ExAC gnomAD
CA504675 rs375122790	88	Q>R		No	ClinGen ESP ExAC gnomAD
rs1557623418	89	E>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA337856158 rs1353079758	89	E>G		No	ClinGen TOPMed gnomAD
CA337856144 rs1557623416	90	N>D		No	ClinGen Ensembl
rs370677078 CA504673	90	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA337856097 rs1412588303	91	D>G		No	ClinGen TOPMed
rs1257495008 CA337856115	91	D>N		No	ClinGen gnomAD
CA337856068 rs1207629773	92	Q>*		No	ClinGen TOPMed gnomAD
CA504672 rs574490179	92	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs377340835 CA504671	93	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1001970046 CA16747866	95	L>Q		No	ClinGen TOPMed
rs780315678 CA504666 CA504664	96	N>K		No	ClinGen ExAC gnomAD
rs756140824 CA337855893	97	F>L		No	ClinGen ExAC TOPMed gnomAD
CA504662 rs767851994	97	F>L		No	ClinGen ExAC TOPMed gnomAD
CA504663 rs756140824	97	F>V		No	ClinGen ExAC TOPMed gnomAD
rs764520136 CA504658	99	D>E		No	ClinGen ExAC gnomAD
CA504659 rs779208980	99	D>N		No	ClinGen ExAC TOPMed gnomAD
rs372783720 COSM3419544 CA504657	100	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA504655 rs764948090	101	D>N		No	ClinGen ExAC gnomAD
rs1258062840 CA337855724	102	S>G		No	ClinGen gnomAD
rs1179882781 CA337855650	103	S>C		No	ClinGen TOPMed gnomAD
rs1179882781 CA337855648	103	S>F		No	ClinGen TOPMed gnomAD
rs369245053 CA504654	105	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1206772374 CA337855552	106	E>*		No	ClinGen gnomAD
CA337855556 rs1206772374	106	E>K		No	ClinGen gnomAD
rs1349015128 CA337855531	107	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA337855527 rs140114557	107	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA504653 rs776228680	107	E>K		No	ClinGen ExAC gnomAD
CA504651 rs746921496	108	G>E		No	ClinGen ExAC gnomAD
rs773184606 CA504650	109	P>L		No	ClinGen ExAC TOPMed gnomAD
rs780069377 CA504647	111	H>L		No	ClinGen ExAC
rs780069377 CA504646	111	H>P		No	ClinGen ExAC
rs756369231 CA337855441	111	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA504645 rs780069377	111	H>R		No	ClinGen ExAC
rs1569956003 CA337855431	112	S>F		No	ClinGen Ensembl
rs745884272 CA504642	115	D>G		No	ClinGen ExAC gnomAD
TCGA novel	115	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA337855392 rs1193054205	115	D>Y		No	ClinGen TOPMed
rs1557623292 CA337855366	116	V>M		No	ClinGen Ensembl
CA337855355 rs1264878729	117	L>P		No	ClinGen TOPMed
CA504618 rs758997399	119	E>A		No	ClinGen ExAC gnomAD
rs752965906 CA504617	120	A>T		No	ClinGen ExAC gnomAD
rs779306808 CA504616	120	A>V		No	ClinGen ExAC TOPMed gnomAD
CA16747649 rs369515916	123	E>D		No	ClinGen ESP ExAC gnomAD
CA504613 rs766016750	123	E>G		No	ClinGen ExAC gnomAD
TCGA novel	124	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149856680 CA504611	124	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA504610 rs767390045	125	D>H		No	ClinGen ExAC gnomAD
TCGA novel	126	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs182282381 CA504609	127	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs150615968 CA504608	127	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1387564328 CA337855103	128	E>A		No	ClinGen TOPMed gnomAD
rs1387564328 CA337855101	128	E>G		No	ClinGen TOPMed gnomAD
rs1376464410 CA337855108	128	E>K		No	ClinGen TOPMed
rs1478783784 CA337855046	130	G>E		No	ClinGen gnomAD
rs762712585 CA504606	130	G>R		No	ClinGen ExAC
TCGA novel	130	G>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1402022540 CA337855024	132	D>N		No	ClinGen gnomAD
CA504603 rs747037050	133	G>E		No	ClinGen ExAC TOPMed gnomAD
CA504604 rs771282830	133	G>R		No	ClinGen ExAC TOPMed gnomAD
rs778032749 CA504602	134	D>N		No	ClinGen ExAC TOPMed gnomAD
CA16747627 rs1010817559	136	V>I		No	ClinGen TOPMed
CA16747597 rs1030649446	138	R>G		No	ClinGen TOPMed
CA504597 rs749621887	139	G>E		No	ClinGen ExAC TOPMed gnomAD
CA337854911 rs199618485	139	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs199618485 CA504598	139	G>W		No	ClinGen 1000Genomes ExAC gnomAD
CA337854881 rs1569955526	141	K>N		No	ClinGen Ensembl
CA504596 rs779619644	142	G>E		No	ClinGen ExAC gnomAD
rs1369012494 CA337854873	142	G>R		No	ClinGen TOPMed gnomAD
COSM1296759 rs749893385 COSM912880 CA504594	144	K>N	Variant assessed as Somatic; 0.0 impact. endometrium urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA337854844 rs1261231363	144	K>T		No	ClinGen TOPMed
CA337854820 rs1365922929	145	N>I		No	ClinGen gnomAD
CA337854813 rs1422140072	145	N>K		No	ClinGen TOPMed gnomAD
rs766979537 CA504593	146	S>A		No	ClinGen ExAC TOPMed gnomAD
rs766979537 CA337854794	146	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1199336114 CA337854791	146	S>Y		No	ClinGen TOPMed gnomAD
CA337854787 rs1432751870	147	V>L		No	ClinGen gnomAD
CA337854762 rs376538715	148	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1334530413 CA337854761	148	P>L		No	ClinGen gnomAD
CA504592 rs376538715	148	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	148	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA504591 rs751498845	149	V>E		No	ClinGen ExAC gnomAD
rs1171558420 CA337854727	150	T>I		No	ClinGen TOPMed gnomAD
rs1399599086 CA337854736	150	T>P		No	ClinGen gnomAD
rs1391413076 CA337854709 COSM912879	151	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1391413076 CA337854707	151	V>L		No	ClinGen TOPMed gnomAD
CA504586 rs760950940	152	A>G		No	ClinGen ExAC TOPMed gnomAD
rs769695147 COSM167968 CA504588	152	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA504587 rs760950940	152	A>V		No	ClinGen ExAC TOPMed gnomAD
rs773618840 CA504585	153	M>V		No	ClinGen ExAC gnomAD
rs1198467277 CA337854595	155	E>K		No	ClinGen gnomAD
rs1276763199 CA337854568	156	R>G		No	ClinGen gnomAD
rs748246429 CA504582	156	R>K		No	ClinGen ExAC gnomAD
CA504583 rs748246429	156	R>T		No	ClinGen ExAC gnomAD
CA504581 rs144525853	157	W>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs769060324 CA504580	158	K>E		No	ClinGen ExAC gnomAD
CA337854468 rs1262089462	158	K>R		No	ClinGen TOPMed
rs749613398 CA504579	159	Q>P		No	ClinGen ExAC gnomAD
rs540105040 CA504578	160	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA504576 rs745495237	161	A>T		No	ClinGen ExAC TOPMed gnomAD
rs756719063 CA504575	162	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs200815419 CA504539	164	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA504538 rs138672231	164	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA504537 rs771368142	165	L>F		No	ClinGen ExAC gnomAD
CA337852541 rs1452564675	167	P>A		No	ClinGen gnomAD
rs539291822 CA504536	167	P>L		No	ClinGen ExAC gnomAD
CA337852522 rs539291822	167	P>R		No	ClinGen ExAC gnomAD
CA504535 rs777542528	169	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1053823369 CA16746891	169	L>V		No	ClinGen TOPMed gnomAD
rs935400228 CA16746884	170	F>L		No	ClinGen TOPMed
rs747668797 CA504533	171	H>R		No	ClinGen ExAC TOPMed gnomAD
rs763630029 CA504534	171	H>Y		No	ClinGen ExAC gnomAD
rs778940343 CA504532	172	E>K		No	ClinGen ExAC gnomAD
rs754991971 CA504531	172	E>V		No	ClinGen ExAC gnomAD
CA504530 rs753643247	174	V>I		No	ClinGen ExAC gnomAD
TCGA novel	174	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1359441783 CA337852287	176	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs751716091 CA504527	177	F>L		No	ClinGen ExAC TOPMed gnomAD
rs370709441 CA504526	178	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA337852229 rs370709441	178	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA504525 rs545096972	178	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA337852195 rs1178405593	179	A>G		No	ClinGen gnomAD
CA16746835 rs933110327	179	A>T		No	ClinGen TOPMed
TCGA novel	179	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA337852181 rs1301129240	180	A>S		No	ClinGen TOPMed
CA337852179 rs1301129240	180	A>T		No	ClinGen TOPMed
rs146963528 CA504522	182	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1169166328 CA337852082	183	T>A		No	ClinGen gnomAD
CA504521 rs777245235	185	R>*		No	ClinGen ExAC TOPMed gnomAD
rs771187906 CA504520	185	R>Q		No	ClinGen ExAC gnomAD
COSM912870 rs1207519077 CA337851994	187	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA337851947 rs1346560196	188	Q>*		No	ClinGen gnomAD
TCGA novel	188	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771867705 CA504517	188	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA504515 rs774033430	189	E>A		No	ClinGen ExAC gnomAD
CA504516 rs376126859	189	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA504514 rs768317412	190	S>G		No	ClinGen ExAC TOPMed gnomAD
rs151303352 CA504513	192	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA504510 CA337851683 rs745678368	194	N>K		No	ClinGen ExAC TOPMed gnomAD
rs559329243 CA504511	194	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA337851587 rs1374958469	196	F>L		No	ClinGen gnomAD
rs1169278760 CA337851543	198	V>F		No	ClinGen gnomAD
CA504509 rs777799560	199	T>M		No	ClinGen ExAC TOPMed gnomAD
CA337851396 rs1207962348	201	S>N		No	ClinGen TOPMed
rs113620763 RCV000911044 CA504472	203	A>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	204	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA337851159 rs1198925677	204	F>V		No	ClinGen TOPMed gnomAD
CA504470 rs746809344	205	N>D		No	ClinGen ExAC gnomAD
CA504469 rs779047181	205	N>S		No	ClinGen ExAC TOPMed gnomAD
rs139726958 CA504467	206	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA504465 rs756202165	207	L>P		No	ClinGen ExAC gnomAD
rs536809464 CA337851083	207	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA337851019 rs1234047290	210	F>S		No	ClinGen gnomAD
CA16746446 rs928942731	211	C>R		No	ClinGen TOPMed
CA504461 rs763791889	212	I>M		No	ClinGen ExAC gnomAD
CA504462 rs757631707	212	I>V		No	ClinGen ExAC gnomAD
rs1241411611 CA337850906	213	R>K		No	ClinGen TOPMed
rs762699507 CA337850894	214	D>H		No	ClinGen ExAC gnomAD
CA504458 rs752332265	214	D>V		No	ClinGen ExAC gnomAD
rs762699507 CA504459	214	D>Y		No	ClinGen ExAC gnomAD
CA504456 rs147225789	215	L>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147225789 CA16746384	215	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1467146921 CA337850835	216	I>T		No	ClinGen TOPMed gnomAD
rs776484250 CA504455	216	I>V		No	ClinGen ExAC TOPMed gnomAD
rs770866559 CA504454	218	C>S		No	ClinGen ExAC gnomAD
rs372730403 CA504453	219	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs372730403 CA337850752	219	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA504451 rs771799161	220	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs749499986 CA504450	224	F>S		No	ClinGen ExAC gnomAD
rs780202164 CA337850584 CA504449	225	G>R		No	ClinGen ExAC TOPMed gnomAD
CA504448 rs769916934	227	V>G		No	ClinGen ExAC TOPMed gnomAD
CA337850459 rs1342757548	228	A>T		No	ClinGen gnomAD
rs765188247 CA504447	228	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1334429023 CA337850356	230	D>G		No	ClinGen gnomAD
CA504445 rs201024260	230	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201024260 CA504444	230	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1557622349 CA337850332	231	S>C		No	ClinGen Ensembl
rs148852075 CA504442	231	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1311726004 CA337850301	232	S>N		No	ClinGen gnomAD
CA504378 rs199728424	236	Q>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA504377 rs150111944	237	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1366578048 CA337848064	238	S>F		No	ClinGen TOPMed
rs1430233388 CA337848056	239	S>G		No	ClinGen gnomAD
CA337848045 rs1187136671	239	S>N		No	ClinGen TOPMed
CA504375 rs200266888	240	S>N		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs761974319 CA504373	241	P>L		No	ClinGen ExAC TOPMed gnomAD
rs756842651 CA504374	241	P>S		No	ClinGen ExAC gnomAD
CA337847991 rs1214234134	242	L>I		No	ClinGen TOPMed
rs1417077674 CA337847929	243	W>C		No	ClinGen gnomAD
CA337847955 rs758208263	243	W>G		No	ClinGen ExAC TOPMed gnomAD
CA504371 rs758208263	243	W>R		No	ClinGen ExAC TOPMed gnomAD
CA504370 rs752562459	243	W>S		No	ClinGen ExAC gnomAD
rs766666244 CA504369	244	G>E		No	ClinGen ExAC gnomAD
TCGA novel	245	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA504366 rs767479478	246	L>I		No	ClinGen ExAC TOPMed gnomAD
rs1557621316 CA337847850	246	L>R		No	ClinGen Ensembl
CA504365 rs762015490	247	R>C		No	ClinGen ExAC gnomAD
rs3828050 CA504362	247	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs3828050 COSM536434 CA504364	247	R>L	lung Variant assessed as Somatic; 4.649e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs3828050 CA504363	247	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770185904 CA504360	250	I>L		No	ClinGen ExAC TOPMed gnomAD
CA504359 rs745488135	250	I>T		No	ClinGen ExAC gnomAD
CA504357 rs770343875	251	K>R		No	ClinGen ExAC TOPMed gnomAD
rs368213271 CA504356	252	A>G		No	ClinGen ESP ExAC gnomAD
CA337847620 rs758439566	253	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs62639963 CA504355	253	Y>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA504352 rs778825903	254	L>M		No	ClinGen ExAC TOPMed gnomAD
CA337847618 rs778825903	254	L>V		No	ClinGen ExAC TOPMed gnomAD
CA337847578 rs1407360840	255	G>D		No	ClinGen TOPMed
CA16743691 rs865808492	256	S>W		No	ClinGen Ensembl
CA504349 rs767781493	257	A>V		No	ClinGen ExAC gnomAD
CA504347 rs200405190	258	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1419573255 CA337847485	258	I>V		No	ClinGen gnomAD
CA337847421 rs1474605288	259	Q>*		No	ClinGen gnomAD
CA16743680 rs927491400	259	Q>H		No	ClinGen TOPMed
rs960193855 CA16743682	259	Q>R		No	ClinGen TOPMed gnomAD
CA337847194 rs1455067137	260	L>P		No	ClinGen gnomAD
rs758406424 CA504310	261	V>A		No	ClinGen ExAC gnomAD
rs778039218 CA504311	261	V>L		No	ClinGen ExAC gnomAD
rs1302963125 CA337847059	264	L>P		No	ClinGen TOPMed
CA504309 rs764097872	265	S>L		No	ClinGen ExAC TOPMed gnomAD
rs937791247 CA16743430	267	T>M		No	ClinGen TOPMed gnomAD
rs755479013 CA504305	268	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1349952457 CA337846861	270	L>F		No	ClinGen gnomAD
CA504303 rs3828049	271	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_028145 CA504302 rs3828049	271	A>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1569949273 CA337846778	273	V>G		No	ClinGen Ensembl
rs200446475 CA504299	273	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs554175821 CA504297	275	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA504298 rs370030288	275	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA337846690 rs1397433978	276	H>R		No	ClinGen gnomAD
CA337846637 rs1477917063	277	I>M		No	ClinGen TOPMed gnomAD
CA504294 rs769575058	278	S>G		No	ClinGen ExAC gnomAD
CA337846631 rs1195647887	278	S>N		No	ClinGen gnomAD
rs113267738 CA504293	278	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA337846598 CA16743346 rs772311539	279	V>L		No	ClinGen ExAC TOPMed gnomAD
rs772311539 CA504291	279	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs377070129 CA504286	282	P>L		No	ClinGen ESP ExAC gnomAD
CA16743305 rs990823165	283	C>R		No	ClinGen Ensembl
CA337846464 rs1271683140	283	C>Y		No	ClinGen gnomAD
CA504285 rs756485369	284	F>L		No	ClinGen ExAC TOPMed gnomAD
CA337846420 rs1224860793	284	F>S		No	ClinGen gnomAD
rs767241580 CA337846261	288	P>H		No	ClinGen ExAC gnomAD
CA504283 rs767241580	288	P>R		No	ClinGen ExAC gnomAD
rs898339210 CA16743282	289	K>*		No	ClinGen TOPMed gnomAD
rs761528263 CA504282	290	Q>*		No	ClinGen ExAC gnomAD
CA337846213 rs761528263	290	Q>E		No	ClinGen ExAC gnomAD
CA504281 rs751223299	290	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs763649870 CA504280	292	R>C		No	ClinGen ExAC TOPMed gnomAD
CA504279 rs143094540	292	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA337845987 rs1557621046	295	L>V		No	ClinGen Ensembl
CA16742632 rs766790772	297	R>S		No	ClinGen ExAC gnomAD
rs3748597 CA337844471	300	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1569948099 CA337844465	300	I>S		No	ClinGen Ensembl
VAR_028146 rs3748597 CA504249	300	I>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs140662264 CA504248	301	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA337844398 rs1216007315	302	W>*		No	ClinGen TOPMed gnomAD
CA337844329 rs1448258929	304	T>I		No	ClinGen gnomAD
rs1281487965 CA337844288	305	G>V		No	ClinGen gnomAD
rs3748596 CA16742596 CA337844251	306	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	306	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	307	E>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1365869788 CA337844133	310	R>Q		No	ClinGen TOPMed gnomAD
rs142878344 CA504244	310	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA337844100 rs1293190542	311	V>L		No	ClinGen gnomAD
CA504243 rs758018670	312	L>P		No	ClinGen ExAC TOPMed gnomAD
CA16742590 rs929061806	313	A>T		No	ClinGen TOPMed gnomAD
rs550278624 CA504240	316	V>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1175376582 CA337843885	316	V>I		No	ClinGen gnomAD
rs530399169 CA504238	318	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs530399169 CA504237	318	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA504235 rs767382979	321	C>G		No	ClinGen ExAC gnomAD
rs546165013 CA504233	322	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs367591999 CA504234	322	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA16742544 rs971183053	323	H>N		No	ClinGen gnomAD
CA337843532 rs769994240	323	H>P		No	ClinGen ExAC TOPMed gnomAD
CA504231 rs759693707	323	H>Q		No	ClinGen ExAC gnomAD
rs769994240 CA504232	323	H>R		No	ClinGen ExAC TOPMed gnomAD
rs971183053 CA337843534	323	H>Y		No	ClinGen gnomAD
CA337843513 rs1364341873	324	K>E		No	ClinGen gnomAD
CA337843482 rs1276469650	324	K>R		No	ClinGen TOPMed gnomAD
CA337843392 rs1346036922	325	K>R		No	ClinGen TOPMed
CA504227 rs747360955	327	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1296391858 CA337843199	327	T>I		No	ClinGen TOPMed
rs747360955 CA504228	327	T>P		No	ClinGen ExAC TOPMed gnomAD
CA337843213 rs1296391858	327	T>S		No	ClinGen TOPMed
rs1557620598 CA337843198	328	F>V		No	ClinGen Ensembl
rs577506851 CA504226	329	L>F	Variant assessed as Somatic; 9.243e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs778540310 CA337842984	331	P>L		No	ClinGen ExAC TOPMed gnomAD
rs778540310 CA504223	331	P>R		No	ClinGen ExAC TOPMed gnomAD
CA504224 rs747793945	331	P>S		No	ClinGen ExAC TOPMed gnomAD
rs150127608 CA504221	332	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA337842946 rs1482552706	333	L>V		No	ClinGen gnomAD
rs769055122 CA504185	336	M>I		No	ClinGen ExAC gnomAD
CA504186 rs774663902	336	M>T		No	ClinGen ExAC TOPMed gnomAD
rs748928754 CA504184	337	Y>C		No	ClinGen ExAC gnomAD
rs769123373 CA504182	338	I>L		No	ClinGen ExAC
rs199569261 CA504181	339	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA337842185 rs1421471683	341	V>M		No	ClinGen TOPMed
rs963122047 CA16742116	342	R>K		No	ClinGen TOPMed gnomAD
CA337842160 rs963122047	342	R>M		No	ClinGen TOPMed gnomAD
rs368410720 CA504179	344	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA16742112 rs368410720	344	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs746984140 CA504178	345	K>R		No	ClinGen ExAC gnomAD
rs1425714425 CA337841950	347	T>I		No	ClinGen gnomAD
CA337842002 rs1569946799	347	T>P		No	ClinGen Ensembl
rs753940524 CA504175	348	S>L		No	ClinGen ExAC TOPMed gnomAD
rs942679767 CA16742089	348	S>P		No	ClinGen TOPMed
CA337841918 rs1372852540	349	P>L		No	ClinGen gnomAD
CA504173 rs756098125	349	P>S		No	ClinGen ExAC TOPMed gnomAD
CA337841916 rs1298785837	350	G>S		No	ClinGen gnomAD
CA16742058 rs201273917	354	F>L		No	ClinGen ExAC TOPMed gnomAD
CA337841798 rs1385115689	354	F>V		No	ClinGen gnomAD
TCGA novel	355	I>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA504169 rs774894562	355	I>L		No	ClinGen ExAC gnomAD
CA337841775 rs774894562	355	I>V		No	ClinGen ExAC gnomAD
rs1359193867 CA337841664	358	M>T		No	ClinGen gnomAD
CA504168 rs764439845	360	W>R		No	ClinGen ExAC TOPMed gnomAD
rs1274175520 CA337841550	361	T>I		No	ClinGen TOPMed
rs774951068 CA504166	362	L>F		No	ClinGen ExAC gnomAD
rs745330712 CA504165	363	T>K		No	ClinGen ExAC TOPMed gnomAD
CA504164 rs745330712	363	T>M		No	ClinGen ExAC TOPMed gnomAD
rs745330712 CA337841522	363	T>R		No	ClinGen ExAC TOPMed gnomAD
rs746936976 CA504161	367	A>D		No	ClinGen ExAC gnomAD
CA337841380 rs1254005494	368	L>R		No	ClinGen gnomAD
rs758209867 CA504159	368	L>V		No	ClinGen ExAC gnomAD
TCGA novel	369	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780094847 CA504157	370	P>A		No	ClinGen ExAC gnomAD
rs200380211 CA504156	370	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780094847 CA16742039	370	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	371	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA337841302 rs1339226415	371	G>V		No	ClinGen TOPMed gnomAD
rs757397609 CA337841277	373	A>S		No	ClinGen ExAC gnomAD
CA504152 rs757397609	373	A>T		No	ClinGen ExAC gnomAD
rs1227263549 CA337841216	374	Y>*		No	ClinGen TOPMed gnomAD
rs1234920371 CA337841219	374	Y>F		No	ClinGen TOPMed
rs1234920371 CA337841224	374	Y>S		No	ClinGen TOPMed
CA337841215 rs1341579275	375	Q>*		No	ClinGen gnomAD
rs751999586 CA337841165	375	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1373867804 CA337841159	376	H>D		No	ClinGen TOPMed gnomAD
CA337841119 rs1310500245	377	A>G		No	ClinGen TOPMed
CA337841130 rs372047419	377	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs372047419 CA504150	377	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs765160791 CA16742009	379	L>F		No	ClinGen TOPMed gnomAD
rs765160791 CA337841069	379	L>V		No	ClinGen TOPMed gnomAD
rs536170990 CA504146	382	R>C		No	ClinGen 1000Genomes ExAC gnomAD
CA337840983 COSM912868 rs958395128	382	R>H	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA16741999 rs958395128	382	R>L		No	ClinGen TOPMed
rs893874000 CA337840907	385	A>S		No	ClinGen TOPMed gnomAD
rs893874000 CA16741988	385	A>T		No	ClinGen TOPMed gnomAD
rs1259618519 CA337840871	386	I>T		No	ClinGen gnomAD
CA16741982 rs999933754	388	L>P		No	ClinGen Ensembl
CA504143 rs770496250	389	R>C		No	ClinGen ExAC gnomAD
CA504142 rs760274356	389	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1449490062 CA337840792	390	N>D		No	ClinGen gnomAD
CA504139 rs142181102	391	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA504138 rs142181102	391	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA337840674 rs1332700559	392	M>T		No	ClinGen TOPMed gnomAD
rs1395828326 CA337840610	393	T>I		No	ClinGen gnomAD
CA504137 rs143404316	394	T>P		No	ClinGen ExAC TOPMed gnomAD
CA504134 rs746096765	395	R>C		No	ClinGen ExAC TOPMed gnomAD
CA504132 rs141541533	395	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141541533 CA504133	395	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA337840573 rs1442807386	396	K>E		No	ClinGen TOPMed gnomAD
CA504130 rs367716421 COSM912867	396	K>N	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA504129 rs202064701	397	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	398	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA337839535 rs1412069731	398	E>K		No	ClinGen TOPMed
rs779299571 CA504108	399	T>A		No	ClinGen ExAC TOPMed gnomAD
CA504106 rs769774180	400	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1348268193 CA337839439	402	S>F		No	ClinGen gnomAD
rs754285530 CA504105	404	Y>C		No	ClinGen ExAC gnomAD
rs766890046 CA504104	405	N>D		No	ClinGen ExAC gnomAD
rs373804753 CA504103	405	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA504102 rs750154349	406	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1224600887 CA337839202	407	Q>*		No	ClinGen Ensembl
TCGA novel	408	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA337839137 rs1364327096	409	V>A		No	ClinGen TOPMed
CA504100 rs144707752	409	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA504099 rs774290521	410	H>L		No	ClinGen ExAC gnomAD
CA504098 rs763964319	411	C>S		No	ClinGen ExAC TOPMed gnomAD
rs762701037 CA504097	412	L>F		No	ClinGen ExAC TOPMed gnomAD
CA337838984 rs1215040239	413	F>L		No	ClinGen TOPMed gnomAD
CA337839010 rs1288814079	413	F>V		No	ClinGen gnomAD
CA337838971 rs1557619783	414	L>P		No	ClinGen Ensembl
CA337838875 rs1295180510	417	R>Q		No	ClinGen gnomAD
CA337838880 rs1221216699	417	R>W		No	ClinGen TOPMed gnomAD
CA504093 rs534742600	420	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs144009138 CA504091	421	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3401067 CA504089 rs755408287	422	A>V	Variant assessed as Somatic; 9.244e-05 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1177963609 CA337838693	423	G>A		No	ClinGen TOPMed gnomAD
rs370113195 CA504088	423	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1177963609 CA337838698	423	G>D		No	ClinGen TOPMed gnomAD
rs1177963609 CA337838695	423	G>V		No	ClinGen TOPMed gnomAD
rs202229466 CA504086	425	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767091383 CA504084	426	E>K		No	ClinGen ExAC TOPMed gnomAD
CA504082 rs377428606	427	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA504080 rs567905943	428	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA504079 rs373812903	428	L>H		No	ClinGen ESP ExAC gnomAD
CA337838546 rs373812903	428	L>P		No	ClinGen ESP ExAC gnomAD
CA337838499 rs1410915653	429	Q>H		No	ClinGen TOPMed
rs150656195 CA504078	430	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA504077 rs370840764	433	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA337838421 rs1473540895	433	Y>D		No	ClinGen TOPMed
CA337838404 rs370840764	433	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs1278223609 CA337838392	434	P>A		No	ClinGen TOPMed gnomAD
CA337838377 rs1447065839	434	P>L		No	ClinGen TOPMed
CA337838390 rs1278223609	434	P>S		No	ClinGen TOPMed gnomAD
CA337838365 rs925598717 COSM1686857	435	L>F	skin [Cosmic]	No	ClinGen cosmic curated TOPMed
rs925598717 CA16741569	435	L>I		No	ClinGen TOPMed
CA504073 rs370000397	436	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA504072 rs748439522	436	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1399402693 CA337838322	437	Q>*		No	ClinGen gnomAD
CA504071 rs774269105	439	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1557619698 CA337838214	440	I>T		No	ClinGen Ensembl
rs768915351 CA504070	440	I>V		No	ClinGen ExAC gnomAD
rs1358324065 CA337838201	441	G>D		No	ClinGen gnomAD
rs531109222 CA504069	441	G>S		No	ClinGen 1000Genomes ExAC gnomAD
CA337838197 rs1358324065	441	G>V		No	ClinGen gnomAD
rs1171002567 CA337838163	443	I>V		No	ClinGen gnomAD
CA337837888 rs1222105090	444	K>N		No	ClinGen TOPMed
rs1466846452 CA337838123	444	K>R		No	ClinGen TOPMed gnomAD
CA504039 rs754845161	446	I>M		No	ClinGen ExAC gnomAD
CA504040 rs778431780	446	I>T		No	ClinGen ExAC gnomAD
rs1291281918 CA337837834	447	P>R		No	ClinGen gnomAD
rs753866757 CA504038	449	A>D		No	ClinGen ExAC gnomAD
rs201490539 CA504037	450	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA337837778 rs956890867	450	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA16740726 rs956890867	450	R>L		No	ClinGen gnomAD
CA337837767 rs1421937657	451	F>V		No	ClinGen gnomAD
rs1181426236 CA337837719	452	Y>*		No	ClinGen gnomAD
CA16740721 rs925638066	452	Y>C		No	ClinGen TOPMed gnomAD
CA337837731 rs925638066	452	Y>S		No	ClinGen TOPMed gnomAD
CA337837715 rs1338679294	453	P>A		No	ClinGen TOPMed
CA16740719 rs978486706	453	P>L		No	ClinGen TOPMed
CA16740701 rs967128892	455	R>*		No	ClinGen TOPMed gnomAD
CA504036 rs760523219 COSM3419543	455	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs751673370 CA337837653 CA504035	456	M>I		No	ClinGen ExAC gnomAD
CA16740686 rs768954686	458	C>R		No	ClinGen Ensembl
rs1218662199 CA337837617	458	C>Y		No	ClinGen gnomAD
CA504032 COSM1344689 rs112703241	460	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs112703241 CA337837582	460	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA504031 rs775681821	460	R>H		No	ClinGen ExAC TOPMed gnomAD
CA337837511 rs1298669641	461	A>S		No	ClinGen TOPMed gnomAD
rs563697611 COSM3948712 CA504030	463	T>M	Variant assessed as Somatic; 0.000109 impact. ovary [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA16740639 rs996955024	464	L>P		No	ClinGen gnomAD
CA504027 rs771137085	465	L>R		No	ClinGen ExAC gnomAD
rs142398749 CA504026	466	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA337837425 rs1263970598	467	G>E		No	ClinGen gnomAD
rs867321702 CA16740616	467	G>W		No	ClinGen Ensembl
CA504024 rs377053805	469	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs549858391 CA337837360	469	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs549858391 CA504023	469	S>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA504021 rs754582637	470	G>E		No	ClinGen ExAC TOPMed gnomAD
CA16740553 rs749112228	473	I>F		No	ClinGen ExAC gnomAD
CA504019 rs780052414	473	I>T		No	ClinGen ExAC gnomAD
rs749112228 CA504020	473	I>V		No	ClinGen ExAC gnomAD
CA504018 rs755814934	474	P>L		No	ClinGen ExAC TOPMed gnomAD
CA504013 rs200646300	477	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA504014 rs373923416	477	P>S		No	ClinGen ESP ExAC gnomAD
CA16740523 rs747399226	479	I>T		No	ClinGen Ensembl
CA16740527 rs1036856120	479	I>V		No	ClinGen TOPMed
CA504011 rs776948053	480	L>P		No	ClinGen ExAC gnomAD
rs761124597 CA504009	481	E>K		No	ClinGen ExAC gnomAD
CA337834980 rs1356850848	482	M>I		No	ClinGen TOPMed
rs1363656912 CA337834915	483	F>L		No	ClinGen gnomAD
CA503986 rs773943074	484	Q>*		No	ClinGen ExAC gnomAD
rs1442681020 CA337834895	484	Q>P		No	ClinGen TOPMed gnomAD
rs912942005 CA16736669	485	Q>*		No	ClinGen gnomAD
CA337834853 rs1413491659	485	Q>R		No	ClinGen TOPMed
CA503983 rs775044682	487	D>N		No	ClinGen ExAC TOPMed gnomAD
CA337834692 rs1449323431	490	R>K		No	ClinGen gnomAD
rs912514080 CA16736639	492	P>L		No	ClinGen Ensembl
CA337834601 rs1290259443	493	G>A		No	ClinGen TOPMed gnomAD
CA337834603 rs1290259443	493	G>E		No	ClinGen TOPMed gnomAD
CA503981 rs199834703	494	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA503980 rs559197331	494	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA16736624 CA503979 rs757156333	495	M>I		No	ClinGen ExAC gnomAD
CA337834561 rs1288585592	495	M>V		No	ClinGen gnomAD
rs1269718521 CA337834512	496	S>N		No	ClinGen gnomAD
rs778965967 CA503977	497	S>C		No	ClinGen ExAC TOPMed gnomAD
CA503976 rs755202760	499	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA503974 rs780173891	500	I>L		No	ClinGen ExAC TOPMed gnomAD
CA503975 rs780173891	500	I>V		No	ClinGen ExAC TOPMed gnomAD
rs200896050 CA503973	502	F>L		No	ClinGen ExAC TOPMed gnomAD
rs750870295 CA503972	503	S>F		No	ClinGen ExAC gnomAD
rs762123766 CA503970	504	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1479193970 CA337834238	505	I>F		No	ClinGen gnomAD
CA503969 rs751920109	507	K>R		No	ClinGen ExAC TOPMed gnomAD
CA337834131 rs1199404966	509	S>C		No	ClinGen gnomAD
rs72631890 CA503968	510	N>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1232224494 CA337834117	511	V>G		No	ClinGen TOPMed
rs1290893907 CA337834121	511	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	512	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762655000 CA503967	512	N>S		No	ClinGen ExAC gnomAD
CA337834050 rs1214110956	514	Q>K		No	ClinGen gnomAD
CA503966 rs143278708	515	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs375064108 CA503965 COSM1217542	517	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA503960 rs777608108	519	R>L		No	ClinGen ExAC TOPMed gnomAD
COSM293769 rs777608108 CA503961	519	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs771025619 CA503962	519	R>W		No	ClinGen ExAC TOPMed gnomAD
CA503933 rs573900479 CA503932	520	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs903880140 CA16736212	520	D>G		No	ClinGen TOPMed gnomAD
CA337833673 rs1243531921	520	D>N		No	ClinGen gnomAD
CA337833640 rs1370621146	521	G>A		No	ClinGen TOPMed gnomAD
rs1448511950 CA337833648	521	G>S		No	ClinGen TOPMed gnomAD
CA337832775 rs1553161158	523	V>G		No	ClinGen Ensembl
CA503930 rs200038390	523	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA503928 rs765918869	525	Q>*		No	ClinGen ExAC gnomAD
CA16736202 rs7416492	526	L>V		No	ClinGen Ensembl
CA337832669 rs773149234	527	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA503925 rs767385738	528	D>N		No	ClinGen ExAC TOPMed gnomAD
CA337832658 rs1176706902	529	L>F		No	ClinGen gnomAD
rs1271006113 CA337832622	530	T>A		No	ClinGen TOPMed gnomAD
CA337832607 rs1358534082	531	L>P		No	ClinGen gnomAD
CA337832604 rs1286458444	532	E>Q		No	ClinGen gnomAD
rs768498673 CA503922	533	Y>*		No	ClinGen ExAC gnomAD
rs1241962203 CA337832563	533	Y>C		No	ClinGen gnomAD
rs1386873373 CA337832544	534	L>P		No	ClinGen gnomAD
rs770986187 CA16736179	535	H>L		No	ClinGen ExAC TOPMed gnomAD
rs770986187 CA503919	535	H>R		No	ClinGen ExAC TOPMed gnomAD
rs747085379 CA337832495	536	S>I		No	ClinGen ExAC gnomAD
rs747085379 CA503918 COSM1344688	536	S>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA503917 rs778307982	537	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA337832483 rs778307982	537	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA337832471 rs1362307243	538	A>V		No	ClinGen gnomAD
rs1158609500 CA337832452	539	H>Y		No	ClinGen TOPMed gnomAD
rs758803235 CA337832438	540	C>R		No	ClinGen ExAC TOPMed gnomAD
CA503916 rs758803235	540	C>S		No	ClinGen ExAC TOPMed gnomAD
CA503915 rs149625280	541	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA503913 rs143290081	542	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA337832362 rs1484746753	544	P>A		No	ClinGen gnomAD
rs139055451 CA503912	544	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	544	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA503910 rs755609968	545	E>G		No	ClinGen ExAC gnomAD
rs1280804398 CA337832310	546	L>V		No	ClinGen gnomAD
CA503909 rs749869576	547	V>L		No	ClinGen ExAC TOPMed gnomAD
CA337832299 rs749869576	547	V>M		No	ClinGen ExAC TOPMed gnomAD
CA337832274 rs1327523202	548	L>V		No	ClinGen TOPMed
rs985145826 CA16736120	549	P>L		No	ClinGen TOPMed
CA337832192 rs1411006937	553	Q>*		No	ClinGen TOPMed
CA503883 VAR_050289 rs35471880	556	S>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs35471880 CA337831648	556	S>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765132800 CA337831590	557	F>L		No	ClinGen ExAC gnomAD
CA337831572 rs1336500101	558	L>F		No	ClinGen gnomAD
CA503880 rs760797512	558	L>P		No	ClinGen ExAC gnomAD
CA337831573 rs1336500101	558	L>V		No	ClinGen gnomAD
CA503878 rs771983247	559	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA503879 rs763357220	559	R>W		No	ClinGen ExAC gnomAD
CA337831413 rs775671055	561	C>G		No	ClinGen TOPMed gnomAD
CA16734042 rs775671055	561	C>R		No	ClinGen TOPMed gnomAD
rs902223495 CA16734035	561	C>Y		No	ClinGen Ensembl
CA503877 rs762004275	562	K>M		No	ClinGen ExAC gnomAD
CA337831292 rs762004275	562	K>R		No	ClinGen ExAC gnomAD
TCGA novel	564	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA503875 rs200220074	564	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA16734029 rs901788033	565	N>S		No	ClinGen Ensembl
rs1364246367 CA337831169	566	Y>S		No	ClinGen TOPMed gnomAD
CA16734013 rs867685413	567	C>R		No	ClinGen TOPMed gnomAD
rs749857767 CA503874	567	C>S		No	ClinGen ExAC gnomAD
TCGA novel	568	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA503872 rs372813385	568	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs201757857 CA503873	568	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA337830965 rs745447109	570	V>A		No	ClinGen ExAC TOPMed gnomAD
CA503871 rs745447109	570	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1345452090 CA337830964	571	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA16733988 rs943258910	575	G>R		No	ClinGen Ensembl
rs1362110954 CA337830809	576	K>R		No	ClinGen gnomAD
rs1569935079 CA337830786	577	V>G		No	ClinGen Ensembl
rs756709696 CA503869	577	V>I		No	ClinGen ExAC gnomAD
CA16733982 rs559880802	578	Q>*		No	ClinGen TOPMed
CA16733985 rs559880802	578	Q>E		No	ClinGen TOPMed
CA503868 rs751101679	579	E>K		No	ClinGen ExAC gnomAD
CA337830657 rs1569935052	580	N>T		No	ClinGen Ensembl
CA503865 rs752693019	581	S>*		No	ClinGen ExAC TOPMed gnomAD
CA16733949 rs752693019	581	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA337830599 rs1274727319	582	A>P		No	ClinGen Ensembl
CA503863 rs754811608	582	A>V		No	ClinGen ExAC gnomAD
CA503862 rs750557589	583	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA16733921 rs950896025	585	C>Y		No	ClinGen TOPMed
rs112341375 CA503859	586	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1409744938 CA337830392	586	S>T		No	ClinGen gnomAD
CA503858 rs764325657	587	R>C		No	ClinGen ExAC TOPMed gnomAD
CA503857 rs143216532	587	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1003561399 CA16733876	588	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1170104394 CA337830301	589	Q>H		No	ClinGen TOPMed
CA337830219 rs1286663935	591	V>D		No	ClinGen gnomAD
CA337830210 rs1286663935	591	V>G		No	ClinGen gnomAD
CA337830223 rs1371994390	591	V>I		No	ClinGen TOPMed
CA16733840 rs746597529	593	F>C		No	ClinGen Ensembl
rs1284000504 CA337830108	594	G>S		No	ClinGen gnomAD
CA503850 rs777256112	595	V>I		No	ClinGen ExAC gnomAD
CA337830044 rs1271708638	597	E>K		No	ClinGen TOPMed
CA503849 rs757974433	598	Q>R		No	ClinGen ExAC gnomAD
rs1430233272 CA337830001	599	Q>*		No	ClinGen TOPMed gnomAD
CA337829998 rs1430233272	599	Q>E		No	ClinGen TOPMed gnomAD
rs199697037 CA503847	601	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA503807 rs749182300	603	A>D		No	ClinGen ExAC gnomAD
CA503808 rs568306861	603	A>P		No	ClinGen 1000Genomes ExAC gnomAD
rs769664218 CA503805	605	E>*		No	ClinGen ExAC gnomAD
rs139458619 CA503803	609	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA337829509 rs752922962	609	R>P		No	ClinGen ExAC TOPMed gnomAD
CA503801 rs752922962	609	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA503802 rs139458619	609	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs779048301 CA503800	612	G>A		No	ClinGen ExAC TOPMed gnomAD
CA337829392 rs1320859675	612	G>R		No	ClinGen TOPMed
rs1197558281 CA337829300	614	P>L		No	ClinGen Ensembl
CA16733501 rs1051334164	616	T>A		No	ClinGen TOPMed
rs865966847 CA16733495	617	L>F		No	ClinGen Ensembl
CA337829214 rs1248524078	618	Y>N		No	ClinGen TOPMed gnomAD
CA503794 rs767827150	619	Y>S		No	ClinGen ExAC gnomAD
CA337828994 rs1299332695	622	W>*		No	ClinGen gnomAD
CA503791 rs768154020	623	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM3419542 CA503790 rs148962722	623	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs768154020 CA503792	623	R>S		No	ClinGen ExAC TOPMed gnomAD
CA503787 rs767651790	626	R>C		No	ClinGen ExAC TOPMed gnomAD
CA337828841 rs781123483	626	R>H		No	ClinGen ExAC TOPMed gnomAD
rs781123483 CA503786	626	R>L		No	ClinGen ExAC TOPMed gnomAD
rs112072809 CA503785	627	D>E		No	ClinGen ExAC TOPMed gnomAD
rs145695271 CA337828798	628	R>G		No	ClinGen 1000Genomes ExAC gnomAD
CA16733445 rs150197742	628	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150197742 CA337828765	628	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150197742 CA503782	628	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA503783 rs145695271	628	R>W		No	ClinGen 1000Genomes ExAC gnomAD
rs780153174 CA503780	629	E>D		No	ClinGen ExAC gnomAD
rs939073673 CA16733429	631	Q>L		No	ClinGen TOPMed
rs756597480 CA503779	632	L>R		No	ClinGen ExAC gnomAD
CA337828389 rs1319186266	637	K>R		No	ClinGen gnomAD
CA16733360 rs887735628	638	E>Q		No	ClinGen Ensembl
rs147322750 CA337826784	639	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs147322750 CA503774	639	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs751175492 CA503775	639	R>W		No	ClinGen ExAC TOPMed gnomAD
rs760522368 CA503727	646	P>S		No	ClinGen ExAC gnomAD
rs368403481 CA16732143	647	E>D		No	ClinGen TOPMed
rs750377234 CA503726	648	I>M		No	ClinGen ExAC gnomAD
rs1249158892 CA337825911	649	K>E		No	ClinGen gnomAD
CA337825872 rs1414446365	649	K>N		No	ClinGen TOPMed
CA503725 rs767240804	649	K>R		No	ClinGen ExAC gnomAD
CA503724 rs369553946	650	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775649472 CA337825835	650	R>L		No	ClinGen ExAC gnomAD
rs775649472 COSM912865 CA503723	650	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1285777075 CA337825777	651	R>S		No	ClinGen gnomAD
rs769972766 CA503722	652	K>N		No	ClinGen ExAC gnomAD
CA337825682 rs879100690 CA16732093	653	M>I		No	ClinGen gnomAD
TCGA novel	653	M>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1379926673 CA337825704	653	M>T		No	ClinGen TOPMed
rs759852708 CA503721	653	M>V		No	ClinGen ExAC gnomAD
CA337825673 rs781377753	654	A>S		No	ClinGen ExAC TOPMed gnomAD
rs781377753 CA503720	654	A>T		No	ClinGen ExAC TOPMed gnomAD
CA337825659 rs1371314707	654	A>V		No	ClinGen TOPMed gnomAD
rs1387431929 CA337825643	655	D>G		No	ClinGen gnomAD
rs747410572 CA503718	655	D>N		No	ClinGen ExAC gnomAD
rs1470027310 CA337825615	656	R>K		No	ClinGen gnomAD
rs1362577141 CA337825563	657	K>N		No	ClinGen TOPMed gnomAD
CA503715 rs540404478	660	D>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1473280812 CA337825501	660	D>N		No	ClinGen gnomAD
rs779464694 CA503713	662	K>N		No	ClinGen ExAC TOPMed gnomAD
rs920336712 CA16732048	663	Q>*		No	ClinGen Ensembl
CA503709 rs754659814	664	F>L		No	ClinGen ExAC TOPMed gnomAD
CA337825176 rs1296314953	665	K>E		No	ClinGen TOPMed gnomAD
CA16732034 rs554710385	667	L>F		No	ClinGen 1000Genomes TOPMed gnomAD
rs779361120 CA503707	668	F>Y		No	ClinGen ExAC TOPMed gnomAD
CA337824977 rs113650656	670	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA503703 rs112163984	670	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA503705 rs113650656	670	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751334404 CA503702	674	E>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	675	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	677	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA503698 rs187444884	677	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA503699 rs187444884	677	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA503700 rs187444884	677	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA337824664 rs1195668832	678	T>I		No	ClinGen gnomAD
CA337824620 rs1248097837	679	E>D		No	ClinGen gnomAD
CA337824654 rs1479219472	679	E>G		No	ClinGen TOPMed gnomAD
rs772663096 CA503694	679	E>K		No	ClinGen ExAC gnomAD
CA503693 rs774793911	680	G>A		No	ClinGen ExAC gnomAD
CA337824609 rs774793911	680	G>E		No	ClinGen ExAC gnomAD
CA337824617 rs1356907049	680	G>R		No	ClinGen TOPMed
CA503692 rs774793911	680	G>V		No	ClinGen ExAC gnomAD
rs77999481 CA503688	682	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748882157 CA503689	682	S>P		No	ClinGen ExAC gnomAD
CA16731984 rs77999481	682	S>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA503686 rs200279266	683	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1221775005 CA337824467	683	E>K		No	ClinGen gnomAD
CA337824439 rs1275651510	684	R>T		No	ClinGen gnomAD
rs761333411 CA503653	686	I>T		No	ClinGen ExAC TOPMed gnomAD
CA337823292 rs1309451038	688	R>K		No	ClinGen gnomAD
rs1430049796 CA337823231	688	R>S		No	ClinGen gnomAD
CA503651 rs764622834	689	P>L		No	ClinGen ExAC gnomAD
rs543983521 CA16731365	689	P>S		No	ClinGen TOPMed gnomAD
CA337823177 rs1251318023	691	S>N		No	ClinGen TOPMed
CA16731348 rs916386848	691	S>R		No	ClinGen TOPMed
CA503650 rs763392759	692	T>A		No	ClinGen ExAC gnomAD
rs147931528 CA16731340	692	T>I		No	ClinGen ESP
rs74047418 CA503648	693	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140901809 CA503649	693	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA503646 rs374726923	694	H>Y		No	ClinGen ESP ExAC gnomAD
rs1263992467 CA337822991	695	G>E		No	ClinGen gnomAD
rs770404445 CA503645	696	V>L		No	ClinGen ExAC gnomAD
CA337822827 rs1222615301	699	D>G		No	ClinGen gnomAD
rs371201923 CA503643 COSM414753	699	D>N	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs748044298 CA503641	700	E>D		No	ClinGen ExAC TOPMed
CA337822803 rs1289719031	700	E>Q		No	ClinGen gnomAD
CA503639 rs778768161	701	E>K		No	ClinGen ExAC gnomAD
rs371539737 CA503632	702	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs750654773 CA503634	702	D>G		No	ClinGen ExAC TOPMed gnomAD
CA503635 rs750654773	702	D>V		No	ClinGen ExAC TOPMed gnomAD
rs138911665 CA337822655	703	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1569930949 CA337822580	703	E>D		No	ClinGen Ensembl
CA503631 rs138911665	703	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs138911665 CA337822660	703	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs763449605 CA503630	704	E>K		No	ClinGen ExAC TOPMed gnomAD
rs763449605 CA503629	704	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs759940488 CA503624	705	E>D		No	ClinGen ExAC gnomAD
CA503626 rs138652036	705	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA16731201 rs140866034	706	G>S		No	ClinGen ESP TOPMed gnomAD
rs770527458 CA503619	707	E>K		No	ClinGen ExAC gnomAD
rs775129618 CA503618 CA16731185	708	E>D		No	ClinGen ExAC TOPMed gnomAD
CA503616 rs771553694	709	D>E		No	ClinGen ExAC
CA503617 rs772716810	709	D>G		No	ClinGen ExAC gnomAD
CA503613 rs748106765	710	S>G		No	ClinGen ExAC TOPMed gnomAD
rs778767811 CA503612	710	S>N		No	ClinGen ExAC gnomAD
CA503610 rs749054355	711	S>G		No	ClinGen ExAC gnomAD
CA503609 rs780019064	711	S>N		No	ClinGen ExAC TOPMed gnomAD
rs751734936 CA503606	713	S>L		No	ClinGen ExAC TOPMed gnomAD
rs757498068 CA503607	713	S>T		No	ClinGen ExAC gnomAD
rs751734936 CA337822117	713	S>W		No	ClinGen ExAC TOPMed gnomAD
rs1557614280 CA916087685	714	E>DN		No	ClinGen Ensembl
rs1378165825 CA337821813	715	D>A		No	ClinGen TOPMed
CA16731103 rs988839199	715	D>N		No	ClinGen gnomAD
CA337821758 CA337821755 rs1202548268	716	G>R		No	ClinGen gnomAD
CA337821744 rs1569929715	717	D>A		No	ClinGen Ensembl
rs370176089 CA503564	717	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA16730709 rs370176089	717	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs557736773 CA503563	718	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1027543032 CA16730698	718	P>S		No	ClinGen TOPMed gnomAD
rs201894720 CA337821705	719	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs749777544 CA503562	719	D>H		No	ClinGen ExAC gnomAD
CA16730659 rs534618296	719	D>V		No	ClinGen 1000Genomes TOPMed gnomAD
rs567016709 CA503560	720	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781632129 CA503558	721	E>*		No	ClinGen ExAC gnomAD
CA503557 rs756794372	721	E>D		No	ClinGen ExAC gnomAD
CA337821672 rs553649720	722	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA503556 rs200633429	722	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA503555 rs553649720	722	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1476088398 CA337821662	723	G>E		No	ClinGen gnomAD
CA16730595 rs960596303	725	A>G		No	ClinGen gnomAD
CA337821631 rs960596303	725	A>V		No	ClinGen gnomAD
CA337821623 rs1252089178	726	P>L		No	ClinGen gnomAD
CA337821620 rs1449633685	727	G>W		No	ClinGen gnomAD
rs1269251606 CA337821602	728	E>A		No	ClinGen gnomAD
CA503550 rs776229392	728	E>D		No	ClinGen ExAC TOPMed gnomAD
rs761932405 CA503548	730	Q>K		No	ClinGen ExAC gnomAD
rs768695287 CA503546	732	L>R		No	ClinGen ExAC gnomAD
rs774608603 CA503547	732	L>V		No	ClinGen ExAC gnomAD
CA337821530 rs1000874657	733	A>G		No	ClinGen TOPMed gnomAD
CA16730569 rs1000874657	733	A>V		No	ClinGen TOPMed gnomAD
CA503544 rs780132632	734	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA503542 rs746391929	734	Q>H		No	ClinGen ExAC gnomAD
rs780132632 CA503545	734	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs770143402 CA503543	734	Q>P		No	ClinGen ExAC gnomAD
rs536424031 CA503541	735	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs961028131 CA16730557	735	G>R		No	ClinGen TOPMed gnomAD
rs757699867 CA503540	736	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA337821461 rs1248187846	737	E>G		No	ClinGen gnomAD
CA16730555 rs901756476	737	E>K		No	ClinGen TOPMed gnomAD
CA337821467 rs901756476	737	E>Q		No	ClinGen TOPMed gnomAD
CA503538 rs777608645	738	D>N		No	ClinGen ExAC gnomAD
rs979814445 CA16730553	738	D>V		No	ClinGen gnomAD
rs550652895 CA503536	739	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1278053687 CA337821434	739	E>G		No	ClinGen gnomAD
CA337821439 rs550652895	739	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA337821437 rs550652895	739	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1217646960 CA337821428	740	L>M		No	ClinGen TOPMed gnomAD
CA503534 rs759322501	741	E>*		No	ClinGen ExAC TOPMed gnomAD
CA503532 rs530959606	742	D>A		No	ClinGen 1000Genomes ExAC gnomAD
CA503533 rs753876662	742	D>N		No	ClinGen ExAC gnomAD
CA503529 rs768820103	744	Q>*		No	ClinGen ExAC gnomAD
CA503530 rs768820103	744	Q>K		No	ClinGen ExAC gnomAD
rs571410564 CA503527	745	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769982751 CA503526	745	L>R		No	ClinGen ExAC TOPMed gnomAD
CA503525 rs746347876	746	S>*		No	ClinGen ExAC gnomAD
rs1048778932 CA16730480	747	E>D		No	ClinGen TOPMed
rs1247077336 CA337821340	747	E>K		No	ClinGen TOPMed gnomAD
rs1450035904 CA337821318	748	D>N		No	ClinGen gnomAD
rs747335515 CA503521	749	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA337821304 rs747335515	749	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1279585914 CA337821287	750	D>G		No	ClinGen gnomAD
rs1279585914 CA337821289	750	D>R		No	ClinGen gnomAD

No associated diseases with Q9Y3T9

No regional properties for Q9Y3T9

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9Y3T9

Functions

		Description
EC Number
Subcellular Localization	Nucleus, nucleoplasm Nucleus, nucleolus	Translocates from the nucleoli to the nucleoplasm in presence of several stressors like ultraviolet irradiation and actinomycin-D Predominantly detected in the nucleoli in non-mitotic cells Predominantly detected in nucleoplasma in cells undergoing mitosis
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
chromosome	A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
Noc1p-Noc2p complex	A heterodimer associated with 90S and 66S preribosomes. Predominantly, but not exclusively, nucleolar; involved in ribosomal large subunit biogenesis.
Noc2p-Noc3p complex	A heterodimer associated with 66S preribosomes; predominantly nucleoplasmic, but also locates to the nucleolus; involved in ribosomal large subunit biogenesis.
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.

6 GO annotations of molecular function

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

7 GO annotations of biological process

Name	Definition
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
cellular response to UV	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers.
negative regulation of B cell apoptotic process	Any process that stops, prevents, or reduces the frequency, rate, or extent of B cell apoptotic process.
negative regulation of histone acetylation	Any process that stops, prevents, or reduces the frequency, rate or extent of the addition of an acetyl group to a histone protein.
negative regulation of intrinsic apoptotic signaling pathway	Any process that stops, prevents or reduces the frequency, rate or extent of intrinsic apoptotic signaling pathway.
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
ribosomal large subunit biogenesis	A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a large ribosomal subunit; includes transport to the sites of protein synthesis.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P39744	NOC2	Nucleolar complex protein 2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q3SYU1	NOC2L	Nucleolar complex protein 2 homolog	Bos taurus (Bovine)	PR
Q9VIF0	CG9246	Nucleolar complex protein 2 homolog	Drosophila melanogaster (Fruit fly)	PR
Q9WV70	Noc2l	Nucleolar complex protein 2 homolog	Mus musculus (Mouse)	PR
O17580	pro-2	Nucleolar complex protein 2 homolog	Caenorhabditis elegans	PR

10	20	30	40	50	60
MAAAGSRKRR	LAELTVDEFL	ASGFDSESES	ESENSPQAET	REAREAARSP	DKPGGSPSAS
70	80	90	100	110	120
RRKGRASEHK	DQLSRLKDRD	PEFYKFLQEN	DQSLLNFSDS	DSSEEEEGPF	HSLPDVLEEA
130	140	150	160	170	180
SEEEDGAEEG	EDGDRVPRGL	KGKKNSVPVT	VAMVERWKQA	AKQRLTPKLF	HEVVQAFRAA
190	200	210	220	230	240
VATTRGDQES	AEANKFQVTD	SAAFNALVTF	CIRDLIGCLQ	KLLFGKVAKD	SSRMLQPSSS
250	260	270	280	290	300
PLWGKLRVDI	KAYLGSAIQL	VSCLSETTVL	AAVLRHISVL	VPCFLTFPKQ	CRMLLKRMVI
310	320	330	340	350	360
VWSTGEESLR	VLAFLVLSRV	CRHKKDTFLG	PVLKQMYITY	VRNCKFTSPG	ALPFISFMQW
370	380	390	400	410	420
TLTELLALEP	GVAYQHAFLY	IRQLAIHLRN	AMTTRKKETY	QSVYNWQYVH	CLFLWCRVLS
430	440	450	460	470	480
TAGPSEALQP	LVYPLAQVII	GCIKLIPTAR	FYPLRMHCIR	ALTLLSGSSG	AFIPVLPFIL
490	500	510	520	530	540
EMFQQVDFNR	KPGRMSSKPI	NFSVILKLSN	VNLQEKAYRD	GLVEQLYDLT	LEYLHSQAHC
550	560	570	580	590	600
IGFPELVLPV	VLQLKSFLRE	CKVANYCRQV	QQLLGKVQEN	SAYICSRRQR	VSFGVSEQQA
610	620	630	640	650	660
VEAWEKLTRE	EGTPLTLYYS	HWRKLRDREI	QLEISGKERL	EDLNFPEIKR	RKMADRKDED
670	680	690	700	710	720
RKQFKDLFDL	NSSEEDDTEG	FSERGILRPL	STRHGVEDDE	EDEEEGEEDS	SNSEDGDPDA
730	740
EAGLAPGELQ	QLAQGPEDEL	EDLQLSEDD