AiPD: Autoinhibited Protein Database

Q9H1A4

Gene name	ANAPC1 (TSG24)
Protein name	Anaphase-promoting complex subunit 1
Names	APC1, Cyclosome subunit 1, Mitotic checkpoint regulator, Testis-specific gene 24 protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:64682
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

336-413 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

336-413 (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

20 structures for Q9H1A4

Entry ID	Method	Resolution	Chain	Position	Source
4UI9	EM	360 A	A	1-1944	PDB
5A31	EM	430 A	A	11-1897	PDB
5G04	EM	400 A	A	1-1943	PDB
5G05	EM	340 A	A	1-1944	PDB
5KHR	EM	610 A	A	1-1944	PDB
5KHU	EM	480 A	A	1-1944	PDB
5L9T	EM	640 A	A	1-1944	PDB
5L9U	EM	640 A	A	1-1944	PDB
5LCW	EM	400 A	A	1-1944	PDB
5LGG	X-ray	215 A			PDB
6Q6G	EM	320 A			PDB
6Q6H	EM	320 A	A	1-1944	PDB
6TLJ	EM	380 A	A	1-1944	PDB
6TM5	EM	390 A	A	1-1944	PDB
6TNT	EM	378 A	A	1-1944	PDB
7QE7	EM	290 A	A	1-1944	PDB
8PKP	EM	320 A	A	1-1944	PDB
8TAR	EM	400 A	A	1-1944	PDB
8TAU	EM	350 A	A	1-1944	PDB
AF-Q9H1A4-F1	Predicted				AlphaFoldDB

1281 variants for Q9H1A4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000853403 RCV000855788 rs1573454278	593	N>missing	Rothmund-Thomson syndrome type 1 [ClinVar]	Yes	ClinVar dbSNP
rs147457004 RCV001420682 CA1830137 RCV000958877	838	T>M	Rothmund-Thomson syndrome type 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs548028803 RCV000973228 CA1830015 RCV001355438	1034	V>M	Rothmund-Thomson syndrome type 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1573318834 RCV000856565	1628	T>missing	Rothmund-Thomson syndrome type 1 [ClinVar]	Yes	ClinVar dbSNP
rs755717995 CA1830926	2	S>L		No	ClinGen ExAC gnomAD
CA1830927 rs34652745	2	S>T		No	ClinGen ExAC TOPMed gnomAD
CA1830924 rs147312815	4	F>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs368970063 CA1830922	5	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA348229783 rs368970063	5	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1273809492 CA348229786	5	Y>H		No	ClinGen gnomAD
CA348229756 rs1283170707	9	T>A		No	ClinGen gnomAD
rs765558487 CA1830921	10	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA53568587 rs763837876	13	A>V		No	ClinGen Ensembl
rs559818654 CA1830918	15	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA348229686 rs1202874824	19	E>G		No	ClinGen TOPMed
CA348229690 rs1321300844	19	E>K		No	ClinGen TOPMed
rs1250957605 CA348229676	20	F>L		No	ClinGen TOPMed
CA1830916 rs374517803	22	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1184169806 CA348229656	23	F>L		No	ClinGen TOPMed
rs13023605 CA1830915	25	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs13023605 CA1830914	25	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1830913 rs577658362	25	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1428560212 CA348229635	27	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA348229637 rs1200193438	27	H>Y		No	ClinGen TOPMed
CA348229627 rs140979946	28	C>F		No	ClinGen ESP ExAC gnomAD
CA1830912 rs140979946	28	C>Y		No	ClinGen ESP ExAC gnomAD
rs557261994 CA1830911	29	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1176342010 CA348229597	32	P>R		No	ClinGen gnomAD
rs772955621 CA1830910	33	N>S		No	ClinGen ExAC TOPMed gnomAD
CA53568542 rs935280274	35	L>V		No	ClinGen TOPMed gnomAD
CA348229573 rs1573530545	36	N>T		No	ClinGen Ensembl
CA1830909 rs769445618	39	L>F		No	ClinGen ExAC gnomAD
TCGA novel	40	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1830908 rs747819794	41	Q>R		No	ClinGen ExAC gnomAD
rs1373673101 CA348229515	45	A>P		No	ClinGen gnomAD
rs376155237 CA1830902	49	W>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA1830900 rs756463150	50	S>A		No	ClinGen ExAC gnomAD
rs756463150 CA1830901	50	S>T		No	ClinGen ExAC gnomAD
CA1830899 rs752960301	52	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs759641128 CA1830897	54	A>V		No	ClinGen ExAC gnomAD
CA348229453 rs1158176861	55	A>T		No	ClinGen gnomAD
CA348229436 rs1409838727	57	L>F		No	ClinGen gnomAD
CA348229432 rs1180771440	58	V>L		No	ClinGen gnomAD
rs751548055 CA1830895	59	G>R		No	ClinGen ExAC gnomAD
rs762815507 CA1830893	61	L>P		No	ClinGen ExAC gnomAD
rs1573530349 CA348229384	64	V>G		No	ClinGen Ensembl
CA1830892 rs370108083	64	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA348229354 rs574935033	67	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1288534326 CA348229353	68	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA348229329 rs1271194375	70	Q>E		No	ClinGen TOPMed
CA1830889 rs554619780	70	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1342290624 CA348228923	73	S>N		No	ClinGen gnomAD
CA53567732 rs929401264	76	L>F		No	ClinGen TOPMed
CA348228888 rs1232720424	78	K>Q		No	ClinGen gnomAD
rs1326989014 CA348228884	78	K>R		No	ClinGen TOPMed gnomAD
rs375937187 CA1830872	79	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA348228871 rs1320153735	80	V>A		No	ClinGen gnomAD
CA348228852 rs1365235792	83	I>L		No	ClinGen gnomAD
CA1830869 rs776248018	83	I>T		No	ClinGen ExAC TOPMed gnomAD
CA1830868 rs763805242	85	E>D		No	ClinGen ExAC gnomAD
rs760187220 CA1830866	87	V>A		No	ClinGen ExAC TOPMed gnomAD
rs760187220 CA348228822	87	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1171687172 CA348228826	87	V>M		No	ClinGen TOPMed
rs1478471672 CA348228811	89	Y>D		No	ClinGen gnomAD
CA1830865 rs368291779	90	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1197774666 CA348228772	94	Y>C		No	ClinGen gnomAD
CA1830864 rs375002312	96	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	98	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1268445103 CA348228747	98	N>S		No	ClinGen gnomAD
CA348228739 rs1250339377	99	M>R		No	ClinGen TOPMed gnomAD
rs1250339377 CA348228740	99	M>T		No	ClinGen TOPMed gnomAD
rs562493599 CA1830863	99	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs971454544 CA53567704	101	I>M		No	ClinGen TOPMed
CA1830862 rs773835452	101	I>V		No	ClinGen ExAC gnomAD
CA348228703 rs1329092533	104	K>R		No	ClinGen TOPMed
CA53567702 rs1023372836	108	S>N		No	ClinGen TOPMed gnomAD
rs202043794 CA53567698	110	A>T		No	ClinGen TOPMed gnomAD
rs748580726 CA1830860	110	A>V		No	ClinGen ExAC gnomAD
CA348228649 rs1558747837	112	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs781349469 CA1830859	114	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1394596697 CA348228624	116	A>T		No	ClinGen gnomAD
rs1573526254 CA348228619	116	A>V		No	ClinGen Ensembl
rs1466185968 CA348228596	120	D>Y		No	ClinGen gnomAD
rs1033189905 CA53567692	121	S>G		No	ClinGen TOPMed gnomAD
rs747223677 CA1830857	122	P>L		No	ClinGen ExAC gnomAD
rs1378580442 CA348228559	125	Q>R		No	ClinGen TOPMed gnomAD
CA348228302 rs1349729532	128	W>R		No	ClinGen gnomAD
CA1830837 rs768902527	129	C>R		No	ClinGen ExAC gnomAD
rs1489797649 CA348228292	129	C>Y		No	ClinGen TOPMed
rs747292920 CA1830836	130	D>Y		No	ClinGen ExAC gnomAD
rs1379390054 CA348228278	131	F>I		No	ClinGen TOPMed gnomAD
rs1379390054 CA348228279	131	F>L		No	ClinGen TOPMed gnomAD
TCGA novel	132	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348228271 rs1313081310	132	I>V		No	ClinGen gnomAD
rs780270541 CA1830835	134	S>L		No	ClinGen ExAC gnomAD
rs1268380218 CA348228248	135	Q>L		No	ClinGen TOPMed
CA1830833 rs745980648	136	D>G		No	ClinGen ExAC gnomAD
CA348228243 rs1336750923	136	D>N		No	ClinGen TOPMed gnomAD
CA1830832 rs778810480	137	K>E		No	ClinGen ExAC gnomAD
CA1830831 rs757268323	138	S>T		No	ClinGen ExAC gnomAD
rs777689895 CA1830829	141	A>G		No	ClinGen ExAC TOPMed gnomAD
rs777689895 CA348228206	141	A>V		No	ClinGen ExAC TOPMed gnomAD
CA1830813 rs746068671	145	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs989794333 CA53564693	147	V>L		No	ClinGen TOPMed
TCGA novel	149	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	149	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1830811 rs538590866	150	C>F		No	ClinGen 1000Genomes ExAC
CA1830810 rs749304749	151	I>T		No	ClinGen ExAC TOPMed gnomAD
CA1830809 rs777583199	153	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1195628180 CA348228110	153	I>V		No	ClinGen gnomAD
rs1443372319 CA348228101	154	L>W		No	ClinGen TOPMed
rs1558743116 CA348228074	158	C>R		No	ClinGen Ensembl
CA1830808 rs756046931	159	I>V		No	ClinGen ExAC TOPMed gnomAD
CA348228061 rs1221123925	160	N>D		No	ClinGen TOPMed gnomAD
TCGA novel	161	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348228054 rs1452329125	161	M>V		No	ClinGen TOPMed gnomAD
CA1830807 rs752568610	164	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1338176500 CA348228010	166	G>V		No	ClinGen TOPMed
rs754722990 CA1830805	167	K>R		No	ClinGen ExAC gnomAD
CA1830804 rs751171994	171	A>V		No	ClinGen ExAC TOPMed gnomAD
CA1830802 rs762386104	174	P>Q		No	ClinGen ExAC gnomAD
rs373335710 CA1830786	177	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1369334390 CA348227907	179	N>S		No	ClinGen gnomAD
CA1830785 rs748073269	180	V>I		No	ClinGen ExAC gnomAD
rs781168837 CA1830784	182	P>A		No	ClinGen ExAC TOPMed gnomAD
CA1830783 rs183401861	182	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781168837 CA348227885	182	P>S		No	ClinGen ExAC TOPMed gnomAD
CA348227875 rs746763872	183	T>I		No	ClinGen ExAC gnomAD
rs746763872 COSM1244921 CA1830782	183	T>S	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA348227867 rs1468225350	184	K>R		No	ClinGen gnomAD
CA1830779 rs749924785	189	F>L		No	ClinGen ExAC gnomAD
CA348227819 rs1415933638 COSM1005453	191	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA348227814 rs1405474348	192	S>N		No	ClinGen gnomAD
rs368190060 CA348227808	193	A>P		No	ClinGen ExAC TOPMed gnomAD
rs368190060 CA1830777	193	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA53564105 rs140453667	196	H>R		No	ClinGen ESP gnomAD
rs1211391065 CA348227774	198	V>G		No	ClinGen gnomAD
rs971546753 CA53564085	198	V>I		No	ClinGen TOPMed gnomAD
CA1830775 rs767926278	199	P>L		No	ClinGen ExAC TOPMed gnomAD
CA348227766 rs1282520021	200	P>A		No	ClinGen gnomAD
CA348227761 rs1308050622	201	G>R		No	ClinGen TOPMed
rs1212283135 CA348227697	209	T>A		No	ClinGen TOPMed
CA348227693 rs1362175949	209	T>N		No	ClinGen gnomAD
rs368125499 CA1830757	210	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA1830759 rs372091222	210	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs768015954 CA1830758	210	M>T		No	ClinGen ExAC gnomAD
CA348227690 rs372091222	210	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1558738643 CA348227676	212	S>G		No	ClinGen Ensembl
CA1830756 rs751890333	213	M>V		No	ClinGen ExAC gnomAD
CA1830755 rs766741167	214	L>M		No	ClinGen ExAC gnomAD
CA1830752 rs765501802	220	I>M		No	ClinGen ExAC gnomAD
rs773559651 CA1830753	220	I>V		No	ClinGen ExAC gnomAD
COSM242933 rs1265736798 CA348227610	222	P>A	lung central_nervous_system prostate [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	222	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM248762 CA348227598 rs1219818947	224	V>L	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
rs998313088 CA53560799	227	S>C		No	ClinGen TOPMed gnomAD
CA1830751 rs761992217	227	S>P		No	ClinGen ExAC gnomAD
CA348227572 rs1305746045	228	G>R		No	ClinGen gnomAD
CA348227568 rs1456213158	228	G>V		No	ClinGen TOPMed
CA53558825 rs910503463	230	L>R		No	ClinGen TOPMed
CA348227537 rs1302288037	231	F>C		No	ClinGen gnomAD
TCGA novel	231	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1830731 rs762081847	234	S>P		No	ClinGen ExAC gnomAD
TCGA novel	235	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348227516 rs1374787635	235	R>W		No	ClinGen gnomAD
CA348227509 rs1330685208	236	V>A		No	ClinGen gnomAD
CA348227502 rs1466665361	237	Q>R		No	ClinGen gnomAD
rs1171242374 CA348227486	239	V>A		No	ClinGen gnomAD
CA1830728 rs760596102	241	D>G		No	ClinGen ExAC gnomAD
rs1177809324 CA348227467	242	H>R		No	ClinGen TOPMed gnomAD
CA348227463 rs1347398800	243	A>T		No	ClinGen TOPMed
rs771846049 CA1830726	244	M>R		No	ClinGen ExAC gnomAD
CA1830727 rs573730367	244	M>V		No	ClinGen 1000Genomes ExAC gnomAD
rs759331049 CA1830725	245	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA348227426 rs1459073483	248	F>C		No	ClinGen TOPMed gnomAD
CA348227427 rs1459073483	248	F>S		No	ClinGen TOPMed gnomAD
TCGA novel	249	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA53558762 rs553979491	250	N>D		No	ClinGen 1000Genomes gnomAD
CA1830723 rs770590750	250	N>S		No	ClinGen ExAC TOPMed gnomAD
CA348227405 rs1258152747	251	T>I		No	ClinGen TOPMed gnomAD
rs1553434902 CA348227395	253	P>A		No	ClinGen Ensembl
rs1553434902 CA1830720	253	P>S		No	ClinGen Ensembl
rs1308696130 CA348227387	254	S>C		No	ClinGen gnomAD
CA348227391 rs1200595238	254	S>P		No	ClinGen TOPMed
CA348227390 rs1200595238	254	S>T		No	ClinGen TOPMed
rs1447580837 CA348227384	255	I>V		No	ClinGen gnomAD
CA348227368 rs1248153633	257	M>T		No	ClinGen TOPMed
CA348227359 rs1345635115	258	T>S		No	ClinGen gnomAD
CA348227336 rs1395898147	261	A>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA348227339 rs1332797012	261	A>S		No	ClinGen gnomAD
CA348227338 rs1395898147	261	A>V		No	ClinGen gnomAD
CA348227335 rs1403358834	262	V>I		No	ClinGen TOPMed gnomAD
rs1277713553 CA348227309	265	V>A		No	ClinGen gnomAD
RCV000785679 rs1277713553 CA348227311	265	V>G		No	ClinGen ClinVar dbSNP gnomAD
CA1830718 rs769337843	265	V>M		No	ClinGen ExAC gnomAD
CA348227290 rs1441033050	268	V>A		No	ClinGen gnomAD
rs1158763364 CA348227294	268	V>L		No	ClinGen TOPMed gnomAD
TCGA novel	270	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1366155895 CA348227268	271	L>R		No	ClinGen TOPMed gnomAD
rs780619350 CA1830716	272	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs747524926 CA1830717	272	R>W		No	ClinGen ExAC TOPMed gnomAD
CA348227262 rs1274447051	273	R>K		No	ClinGen TOPMed
CA348227253 rs1258095186	274	V>D		No	ClinGen gnomAD
rs758795280 CA348227248	275	K>R		No	ClinGen ExAC TOPMed gnomAD
CA1830715 rs758795280	275	K>T		No	ClinGen ExAC TOPMed gnomAD
rs762656369 CA1830694	280	N>D		No	ClinGen ExAC gnomAD
CA53557857 rs200506240	281	V>I		No	ClinGen Ensembl
CA348227170 rs1195556622	284	K>N		No	ClinGen gnomAD
rs1351939555 CA348227177	284	K>Q		No	ClinGen TOPMed
CA348227157 rs1476540728	286	S>C		No	ClinGen gnomAD
rs13029913 CA53557821	288	Q>H		No	ClinGen ExAC
rs747729870 CA1830691	288	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA348227140 rs1452275753	289	G>E		No	ClinGen gnomAD
CA1830687 rs746348058	289	G>R		No	ClinGen ExAC TOPMed gnomAD
CA1830688 rs746348058	289	G>W		No	ClinGen ExAC TOPMed gnomAD
rs1573492321 CA348227133	290	G>E		No	ClinGen Ensembl
CA1830684 rs201139467	291	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	291	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201139467 CA348227131	291	T>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201139467 CA1830683	291	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA348227126 rs1259178705	292	P>A		No	ClinGen gnomAD
CA53557747 rs13011359	293	Q>R		No	ClinGen TOPMed
rs1365100725 CA348227103	295	V>A		No	ClinGen gnomAD
rs181230944 CA1830681	296	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed
rs181230944 CA53557708	296	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed
rs767471509 CA1830680	297	T>A		No	ClinGen ExAC gnomAD
rs1573492220 CA348227089	298	S>C		No	ClinGen Ensembl
rs754945773 CA1830678	299	S>N		No	ClinGen ExAC gnomAD
rs140170511 CA348227061	302	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140170511 CA1830677	302	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA348227047 rs762746379	304	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1573492143 CA348227037	306	R>K		No	ClinGen Ensembl
rs370635958 CA53557651	307	S>R		No	ClinGen ExAC gnomAD
CA1830670 rs768278432	313	S>C		No	ClinGen ExAC TOPMed gnomAD
CA1830671 rs768278432	313	S>F		No	ClinGen ExAC TOPMed gnomAD
rs768278432 CA348226988	313	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs375588038 CA1830668 COSM1005447	314	P>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs746437990 CA1830669	314	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	315	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA53557605 rs13028389	316	T>I		No	ClinGen ExAC TOPMed gnomAD
CA1830667 rs13028389	316	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1573492055 CA348226944	318	P>L		No	ClinGen Ensembl
rs13011167 CA53557599	320	Q>R		No	ClinGen gnomAD
rs749693409 CA1830666	324	S>F		No	ClinGen ExAC gnomAD
CA1830665 rs368359389	327	S>G		No	ClinGen ESP ExAC TOPMed
CA53557572 COSM109340 rs143582872	328	Q>*	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs868008388 COSM714755 CA53557558	330	R>C	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA1830663 rs748283556	330	R>H	Variant assessed as Somatic; 9.239e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs748283556 CA348226736	330	R>L		No	ClinGen ExAC TOPMed gnomAD
CA1830661 rs374394520	332	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA1830660 rs751576469	332	T>N		No	ClinGen ExAC TOPMed gnomAD
rs189273795 CA53557523	335	P>L		No	ClinGen 1000Genomes
CA348226656 rs1558733827	336	S>N		No	ClinGen Ensembl
CA1830657 rs750283615	339	S>A		No	ClinGen ExAC
rs137965758 CA1830656	340	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs761594514 CA1830655	340	R>H		No	ClinGen ExAC TOPMed gnomAD
CA348226576 rs1435638489 COSM1305549	341	S>L	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1397097984 CA348226563	342	P>L		No	ClinGen gnomAD
rs776136873 CA1830654	344	I>V		No	ClinGen ExAC TOPMed
CA53557496 COSM1182713 rs947394918	347	M>T	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA1830652 rs141781908	349	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA348225824 rs1261403300	352	R>H		No	ClinGen gnomAD
rs542785785 CA1830637	354	H>N		No	ClinGen 1000Genomes ExAC gnomAD
CA1830636 rs750326887	355	S>C		No	ClinGen ExAC TOPMed gnomAD
rs750326887 CA53589889	355	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs188527988 CA1830635	357	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1262038649 CA348225798	357	A>T		No	ClinGen gnomAD
rs188527988 CA53589884	357	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1485128795 CA348225791	358	L>S		No	ClinGen TOPMed
rs1235011193 CA348225777	360	V>A		No	ClinGen gnomAD
CA1830633 rs753622705	362	S>A		No	ClinGen ExAC TOPMed gnomAD
rs1476001166 CA348225744	365	G>E		No	ClinGen TOPMed
CA348225739 rs1416542736	366	V>A		No	ClinGen TOPMed
rs1290750030 CA348225740	366	V>L		No	ClinGen gnomAD
rs1573488587 CA348225736	367	Q>K		No	ClinGen Ensembl
TCGA novel	368	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760353998 CA348225717	369	F>C		No	ClinGen ExAC gnomAD
CA348225716 rs752304842 CA1830630	369	F>L		No	ClinGen ExAC gnomAD
rs760353998 CA1830631	369	F>S		No	ClinGen ExAC gnomAD
CA1830629 rs767104536	371	I>F		No	ClinGen ExAC
CA1830626 rs770275039	372	S>*		No	ClinGen ExAC gnomAD
rs773574543 CA1830628	372	S>P		No	ClinGen ExAC gnomAD
CA1830627 rs773574543	372	S>T		No	ClinGen ExAC gnomAD
CA348225695 rs1193382797	373	S>N		No	ClinGen gnomAD
CA1830623 rs768918037	374	H>Y		No	ClinGen ExAC gnomAD
rs1189063930 CA348225679	375	N>S		No	ClinGen TOPMed gnomAD
rs1487886140 CA348225674	376	Q>E		No	ClinGen gnomAD
CA348225671 rs1265457237	376	Q>R		No	ClinGen gnomAD
rs1215493860 CA348225664	377	S>F		No	ClinGen TOPMed gnomAD
CA1830622 rs184915599	378	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780177685 CA1830621	378	P>L		No	ClinGen ExAC gnomAD
CA348225656 rs1313232991	379	K>E		No	ClinGen TOPMed
TCGA novel	380	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1830619 rs745903153	381	H>R		No	ClinGen ExAC gnomAD
CA1830620 rs772032284	381	H>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	382	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1385244325 CA348225612	385	H>P		No	ClinGen gnomAD
rs757180381 CA1830616	387	P>T		No	ClinGen ExAC gnomAD
CA1830615 rs753707513	388	N>D		No	ClinGen ExAC gnomAD
CA1830614 rs777686481	388	N>K		No	ClinGen ExAC gnomAD
rs755871116 CA1830613	389	S>N		No	ClinGen ExAC TOPMed gnomAD
CA1830612 rs752392782	389	S>R		No	ClinGen ExAC gnomAD
CA53589707 rs4089745	390	N>K		No	ClinGen ExAC gnomAD
rs754454961 CA1830610	391	S>T		No	ClinGen ExAC TOPMed gnomAD
CA1830608 COSM3673459 rs540910667	392	N>D	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs192870063 CA53589679	393	G>D		No	ClinGen 1000Genomes
CA53589682 rs1008692811	393	G>S		No	ClinGen TOPMed
CA348225559 rs1194933787	394	S>A		No	ClinGen gnomAD
CA53589657 rs4089744	394	S>F		No	ClinGen gnomAD
CA1830605 rs777023029	395	F>L		No	ClinGen ExAC TOPMed gnomAD
rs764441858 CA1830604	395	F>Y		No	ClinGen ExAC gnomAD
TCGA novel	396	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	396	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348225545 rs1253951514	396	L>P		No	ClinGen gnomAD
rs775702856 CA1830602	397	A>V		No	ClinGen ExAC gnomAD
CA348225531 rs1304323108	399	E>*		No	ClinGen gnomAD
CA1830601 rs148916142	400	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA1830600 rs368906308	400	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs368906308 CA348225522	400	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA348225510 rs1399088892	402	P>L		No	ClinGen gnomAD
CA1830598 rs770821898	402	P>S		No	ClinGen ExAC gnomAD
rs749206386 CA1830597	403	I>V		No	ClinGen ExAC gnomAD
CA348225474 rs1395276480	408	C>Y		No	ClinGen gnomAD
CA1830596 rs142430919	409	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1178411846 CA348225453	411	H>Y		No	ClinGen TOPMed
rs755956970 CA1830595	412	L>F		No	ClinGen ExAC TOPMed gnomAD
CA53589565 rs1028367169	414	T>R		No	ClinGen TOPMed gnomAD
rs201128090 CA1830593	416	T>M		No	ClinGen ExAC TOPMed gnomAD
CA1830592 rs754615450	420	I>M		No	ClinGen ExAC gnomAD
rs780989311 CA1830575	422	E>G		No	ClinGen ExAC
rs779492275 CA1830571	425	S>A		No	ClinGen ExAC gnomAD
TCGA novel	425	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1830570 rs757921276	426	Q>K		No	ClinGen ExAC gnomAD
CA1830569 rs749869223	426	Q>P		No	ClinGen ExAC gnomAD
TCGA novel	427	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1830568 rs778284606	427	A>T		No	ClinGen ExAC gnomAD
TCGA novel	427	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs896239864 CA53587016	428	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs896239864 CA348225327	428	S>L		No	ClinGen TOPMed gnomAD
rs767890670 CA1830565	429	K>E		No	ClinGen ExAC TOPMed gnomAD
CA1830564 rs759741274	430	V>G		No	ClinGen ExAC gnomAD
CA348225302 rs1241773484	432	I>T		No	ClinGen gnomAD
CA348225305 rs1476994211	432	I>V		No	ClinGen gnomAD
CA348225291 rs1403078113	434	S>F		No	ClinGen TOPMed
CA1830562 rs766647587	434	S>P		No	ClinGen ExAC TOPMed
CA348225280 rs763125767	436	L>I		No	ClinGen ExAC gnomAD
CA1830561 rs763125767	436	L>V		No	ClinGen ExAC gnomAD
rs903785735 CA53586938	437	C>R		No	ClinGen TOPMed
CA348225268 rs1265270029	438	G>R		No	ClinGen gnomAD
rs769871554 CA1830559	439	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs776359232 CA1830557	441	F>L		No	ClinGen ExAC gnomAD
CA1830556 rs768489176	443	C>R		No	ClinGen ExAC gnomAD
rs746727798 CA1830555	445	L>S		No	ClinGen ExAC
CA348225214 rs1364187984	446	V>L		No	ClinGen TOPMed
rs779762087 CA1830553	447	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1315967145 CA348225198	448	S>C		No	ClinGen TOPMed
rs1432385689 CA348225194	449	Q>*		No	ClinGen gnomAD
rs1328852683 CA348225191	449	Q>L		No	ClinGen TOPMed gnomAD
CA1830552 rs771673684	450	L>F		No	ClinGen ExAC gnomAD
CA1830551 CA1830550 rs79100806	451	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs567800751 COSM1005443 CA1830548	453	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed
CA1830547 rs753241990	453	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs567800751 CA348225170	453	R>S		No	ClinGen ExAC TOPMed
CA1830514 rs759243361	456	K>N		No	ClinGen ExAC gnomAD
rs774005890 CA1830513	457	F>L		No	ClinGen ExAC gnomAD
rs770423470 CA1830512	459	E>D		No	ClinGen ExAC gnomAD
rs748856823 CA1830511	460	S>N		No	ClinGen ExAC gnomAD
rs1223201508 CA348225111	460	S>R		No	ClinGen gnomAD
CA1830510 rs772544240	461	N>S		No	ClinGen ExAC gnomAD
rs747484770 CA1830508	462	D>G		No	ClinGen ExAC gnomAD
rs769251816 CA1830509	462	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA348225078 rs1374571079	464	T>I		No	ClinGen gnomAD
CA1830505 rs72936240 RCV000454938	465	Q>*		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs4067733 CA53585592	469	G>V		No	ClinGen Ensembl
CA348225023 rs1409319886	473	N>S		No	ClinGen gnomAD
rs756144817 CA1830500	474	I>V		No	ClinGen ExAC gnomAD
rs1188295268 CA348225009	475	P>L		No	ClinGen gnomAD
rs1257168691 CA348225010	475	P>S		No	ClinGen gnomAD
CA348225002 rs1486439265	476	A>G		No	ClinGen gnomAD
rs141604036 CA1830497	480	A>P		No	ClinGen TOPMed gnomAD
rs752615275 CA1830496	481	P>S		No	ClinGen ExAC gnomAD
rs767383936 CA53585559	482	V>A		No	ClinGen ExAC TOPMed gnomAD
CA1830495 rs767383936	482	V>E		No	ClinGen ExAC TOPMed gnomAD
CA348224965 rs767383936	482	V>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	483	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1830471 rs762732205	484	K>E		No	ClinGen ExAC gnomAD
rs146218010 CA1830470	484	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs761444525 CA1830468	485	I>M		No	ClinGen ExAC gnomAD
CA1830469 rs764880663	485	I>V		No	ClinGen ExAC TOPMed gnomAD
CA348224928 rs1428744579	486	D>V		No	ClinGen TOPMed gnomAD
CA53585403 rs201323726	487	T>I		No	ClinGen Ensembl
rs1191182770 CA348224906	490	V>L		No	ClinGen gnomAD
rs772755271 CA1830466	492	E>G		No	ClinGen ExAC gnomAD
CA348224883 rs760090422	493	G>D		No	ClinGen ExAC gnomAD
CA1830465 rs760090422	493	G>V		No	ClinGen ExAC gnomAD
rs1215436700 CA348224880	494	S>G		No	ClinGen TOPMed gnomAD
rs1177005065 CA348224878	494	S>N		No	ClinGen TOPMed
CA348224881 rs1215436700	494	S>R		No	ClinGen TOPMed gnomAD
rs1456290417 CA348224870	495	G>E		No	ClinGen gnomAD
rs774848078 CA1830464	496	N>K		No	ClinGen ExAC gnomAD
CA348224843 rs1232222342	500	Y>N		No	ClinGen gnomAD
CA1830461 rs777861117	501	T>A		No	ClinGen ExAC gnomAD
CA348224832 rs1394048500	501	T>I		No	ClinGen TOPMed
TCGA novel	502	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1830459 rs748250001	505	R>Q		No	ClinGen ExAC gnomAD
rs769962757 CA1830460	505	R>W		No	ClinGen ExAC gnomAD
CA53581737 rs921825461	506	V>M		No	ClinGen TOPMed gnomAD
rs770047304 CA1830439	509	V>F		No	ClinGen ExAC gnomAD
CA348224753 rs1362942152	513	G>R		No	ClinGen TOPMed
CA348224720 rs547376429	518	S>C		No	ClinGen 1000Genomes TOPMed gnomAD
CA53581683 rs547376429	518	S>F		No	ClinGen 1000Genomes TOPMed gnomAD
rs141781154 CA1830435	520	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA53581654 rs766811613	521	M>*		No	ClinGen Ensembl
CA348224707 rs1260680190	521	M>L		No	ClinGen gnomAD
TCGA novel	522	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745700093 CA1830432	523	N>K		No	ClinGen ExAC gnomAD
rs146328036 CA1830431	524	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA348224682 rs1250503796	525	M>V		No	ClinGen TOPMed
rs1463943988 CA348224669	526	P>R		No	ClinGen TOPMed
CA1830427 rs147684628	527	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs551412961 CA1830428	527	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs111521289 CA53581562	528	P>H		No	ClinGen Ensembl
rs1425870355 CA348224655	529	S>N		No	ClinGen TOPMed
CA348224650 rs1380049378	530	T>A		No	ClinGen gnomAD
rs752207972 CA1830426	530	T>I		No	ClinGen ExAC gnomAD
CA348224649 rs1380049378	530	T>S		No	ClinGen gnomAD
rs763490262 CA1830425	533	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1290106352 CA348224620	535	V>D		No	ClinGen TOPMed
CA1830422 rs765581526	535	V>I		No	ClinGen ExAC TOPMed gnomAD
CA348224616 rs1434290731	536	S>G		No	ClinGen TOPMed
CA348224613 rs1475027538	536	S>N		No	ClinGen gnomAD
CA348224611 rs1258528702	536	S>R		No	ClinGen gnomAD
CA348224614 rs1475027538	536	S>T		No	ClinGen gnomAD
CA1830420 COSM475768 rs776845218	537	T>A	lung kidney NS oesophagus endometrium central_nervous_system prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1445368090 CA348224606	537	T>S		No	ClinGen gnomAD
rs148969655 CA1830419 COSM459676	538	P>A	cervix [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs148969655 CA1830418	538	P>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA348224599 rs1331806996	539	K>E		No	ClinGen gnomAD
CA53581512 rs765283113	540	P>L		No	ClinGen Ensembl
CA1830416 rs771948220	540	P>S		No	ClinGen ExAC gnomAD
CA1830415 rs745817374	541	L>V		No	ClinGen ExAC TOPMed gnomAD
rs371874916 CA53581508	543	K>I		No	ClinGen ESP
CA1830412 rs200151639	547	S>L		No	ClinGen ExAC gnomAD
rs767023132 CA1830408	550	E>K		No	ClinGen ExAC gnomAD
CA1830385 rs764518569	551	V>I		No	ClinGen ExAC gnomAD
rs574164616 CA53579491	552	V>L		No	ClinGen Ensembl
TCGA novel	555	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1278988865 CA348224481	556	P>S		No	ClinGen TOPMed gnomAD
rs1558717534 CA348224457	560	L>M		No	ClinGen Ensembl
rs760868573 CA1830384	562	D>Y		No	ClinGen ExAC gnomAD
rs368798290 CA53579459	564	S>*		No	ClinGen ESP TOPMed gnomAD
CA1830382 rs767571503	565	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1160754732 CA348224419	566	L>I		No	ClinGen gnomAD
CA348224411 rs1431854590	567	H>R		No	ClinGen gnomAD
rs759717910 CA1830381	567	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1373769614 CA348224400	568	D>E		No	ClinGen gnomAD
CA1830380 rs774520284	570	L>I		No	ClinGen ExAC gnomAD
CA1830378 rs773207491	571	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA1830377 rs773207491	571	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA348224375 rs1175944249	572	N>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA1830374 rs769617579	577	F>S		No	ClinGen ExAC gnomAD
CA1830373 rs747839128	579	Q>*		No	ClinGen ExAC gnomAD
rs1263387971 CA348224318	580	L>P		No	ClinGen TOPMed
CA348224309 rs768146615	582	T>A		No	ClinGen ExAC gnomAD
rs768146615 CA1830371	582	T>S		No	ClinGen ExAC gnomAD
CA53579406 rs970986578	584	I>V		No	ClinGen TOPMed gnomAD
rs1192302181 CA348224272	587	I>M		No	ClinGen TOPMed
rs564749148 CA1830370	587	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA1830369 rs757829170	592	H>P		No	ClinGen ExAC TOPMed gnomAD
CA1830368 rs757829170	592	H>R		No	ClinGen ExAC TOPMed gnomAD
CA348224212 rs1351214585	596	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1830349 rs778377758	598	E>K		No	ClinGen ExAC gnomAD
rs1165122626 CA348224180	600	S>N		No	ClinGen TOPMed gnomAD
CA1830347 rs748591228	602	G>R		No	ClinGen ExAC gnomAD
CA1830348 rs748591228	602	G>S		No	ClinGen ExAC gnomAD
CA1830345 rs755314589	604	M>T		No	ClinGen ExAC gnomAD
CA1830344 rs751817199	607	I>N		No	ClinGen ExAC gnomAD
CA348224129 rs1467873331	608	T>A		No	ClinGen gnomAD
rs767794909 CA53579148	609	I>V		No	ClinGen Ensembl
rs1222663960 CA348224117	610	P>S		No	ClinGen gnomAD
CA53579143 rs546975863	611	E>K		No	ClinGen 1000Genomes
CA348224103 rs1295832895	612	I>V		No	ClinGen TOPMed
rs143278866 CA1830340	613	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1214097414 CA348224090	614	T>I		No	ClinGen gnomAD
CA348224086 rs370589531	615	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs370589531 CA1830338	615	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA1830316 COSM1398785 rs144034109	620	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA1830314 rs377754657	621	C>G		No	ClinGen ESP ExAC gnomAD
rs928647556 CA53576820	621	C>Y		No	ClinGen TOPMed gnomAD
rs777281770 CA1830311	624	A>T		No	ClinGen ExAC gnomAD
CA348224010 rs1249548681	625	I>L		No	ClinGen gnomAD
rs780536707 CA348223974	630	P>S		No	ClinGen ExAC TOPMed gnomAD
CA1830308 rs780536707	630	P>T		No	ClinGen ExAC TOPMed gnomAD
CA348223970 rs1254120584	631	K>Q		No	ClinGen gnomAD
rs1206948436 CA348223953	633	I>V		No	ClinGen TOPMed
CA1830307 rs772406854	634	A>G		No	ClinGen ExAC gnomAD
CA1830305 rs779139146	635	V>L		No	ClinGen ExAC gnomAD
CA348223931 rs1315574984	636	Q>H		No	ClinGen gnomAD
CA53576742 rs1045079489	636	Q>K		No	ClinGen TOPMed gnomAD
rs138079387 CA1830304	637	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA53576730 rs914769203	639	V>D		No	ClinGen TOPMed gnomAD
CA53576719 rs374328343	640	K>R		No	ClinGen ESP TOPMed
rs1558712640 CA348223888	642	Y>*		No	ClinGen Ensembl
CA348223891 rs1351919698	642	Y>C		No	ClinGen TOPMed gnomAD
CA348223890 rs1351919698	642	Y>F		No	ClinGen TOPMed gnomAD
CA1830302 rs201732791	643	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs143806345 CA53576697	643	N>S		No	ClinGen ESP TOPMed gnomAD
rs752525363 CA1830300	645	H>L		No	ClinGen ExAC gnomAD
rs756026937 CA1830301	645	H>Y		No	ClinGen ExAC gnomAD
rs1319374708 CA348223868	646	S>G		No	ClinGen TOPMed
TCGA novel	650	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	652	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348223830 rs1397200904	652	S>G		No	ClinGen TOPMed
CA348223828 rs1451520547	652	S>I		No	ClinGen gnomAD
rs1363058855 CA348223825	652	S>R		No	ClinGen gnomAD
CA1830299 rs767292299	653	Y>C		No	ClinGen ExAC gnomAD
CA1830298 rs759287185	657	W>R		No	ClinGen ExAC gnomAD
rs751180515 CA1830297	658	N>K		No	ClinGen ExAC gnomAD
CA348223766 rs1339755223	660	F>L		No	ClinGen TOPMed
CA53576644 rs957801172	660	F>L		No	ClinGen TOPMed gnomAD
rs1297505326 CA348223744	664	L>V		No	ClinGen TOPMed gnomAD
rs765989849 CA1830296	667	M>V		No	ClinGen ExAC gnomAD
CA1830294 rs772798021	668	M>I		No	ClinGen ExAC TOPMed gnomAD
rs182422795 CA1830295	668	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1485167188 CA348223702	669	G>V		No	ClinGen gnomAD
CA348223696 rs1267941411	670	Y>F		No	ClinGen gnomAD
CA348223692 rs1229433596	671	N>D		No	ClinGen gnomAD
CA1830293 rs769334568	671	N>K		No	ClinGen ExAC gnomAD
rs530034706 CA53576596	672	T>I		No	ClinGen 1000Genomes
CA348223686 rs1267668584	672	T>P		No	ClinGen TOPMed
rs1483626535 CA348223674	673	D>E		No	ClinGen TOPMed
CA1830291 rs776057720	674	R>C		No	ClinGen ExAC TOPMed gnomAD
CA1830290 COSM1005428 rs772338494	674	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA1830292 rs776057720	674	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1340627447 CA348223663	676	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1335587302 CA348223658	676	A>V		No	ClinGen gnomAD
CA1830288 rs779039406	678	T>P		No	ClinGen ExAC gnomAD
rs771137582 CA1830287	679	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs560902039 CA1830286	680	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	680	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761349994 CA1830271	683	F>L		No	ClinGen ExAC gnomAD
CA1830269 rs768031706	684	E>V		No	ClinGen ExAC gnomAD
TCGA novel	687	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1830267 rs774758310	687	L>V		No	ClinGen ExAC gnomAD
rs771102040 CA1830266	688	S>C		No	ClinGen ExAC gnomAD
rs1368667372 CA348223561	689	P>L		No	ClinGen gnomAD
CA348223549 rs1181626034	691	I>M		No	ClinGen Ensembl
CA53573752 rs1017129366	691	I>V		No	ClinGen TOPMed
rs372889521 CA1830264	692	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs748156140 CA1830262	693	P>A		No	ClinGen ExAC gnomAD
CA348223539 rs1240940944	693	P>L		No	ClinGen TOPMed
rs748156140 CA348223542	693	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1389889584 CA348223522	696	A>T		No	ClinGen gnomAD
rs754895291 CA1830260	700	E>K		No	ClinGen ExAC gnomAD
CA348223489 rs1393841167	701	T>A		No	ClinGen gnomAD
CA348223485 rs1172437420	701	T>I		No	ClinGen gnomAD
CA1830258 rs779866371	703	S>C		No	ClinGen ExAC gnomAD
CA348223473 rs1248805927	704	D>Y		No	ClinGen gnomAD
rs553049930 CA348223463	705	D>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1830256 rs553049930	705	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758183683 CA1830257	705	D>Y		No	ClinGen ExAC gnomAD
rs769962580 CA1830246	707	W>*		No	ClinGen ExAC
rs748248059 CA1830245	708	E>D		No	ClinGen ExAC TOPMed gnomAD
CA348223386 rs1256368013	714	D>G		No	ClinGen TOPMed
rs1237982964 CA348223390	714	D>N		No	ClinGen TOPMed
CA348223378 rs1558704448	715	Y>S		No	ClinGen Ensembl
rs1558704441 CA348223371	716	H>P		No	ClinGen Ensembl
rs768514607 CA1830243	717	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs746954116 CA1830242	717	Q>R		No	ClinGen ExAC gnomAD
CA348223354 rs1209280966	718	N>K		No	ClinGen TOPMed gnomAD
rs4019122 CA53571689	718	N>S		No	ClinGen Ensembl
rs1444048243 CA348223343	720	E>G		No	ClinGen gnomAD
rs1024198931 CA53571684	721	S>P		No	ClinGen TOPMed
CA1830241 rs779799094	722	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1252948049 CA348223325	723	L>F		No	ClinGen TOPMed gnomAD
CA348223327 rs1252948049	723	L>I		No	ClinGen TOPMed gnomAD
rs758275293 CA1830240	724	L>S		No	ClinGen ExAC TOPMed gnomAD
rs745619711 CA1830239	725	N>D		No	ClinGen ExAC gnomAD
rs778733815 CA1830238	726	R>G		No	ClinGen ExAC gnomAD
TCGA novel	726	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1830237 rs756949702	727	S>A		No	ClinGen ExAC TOPMed gnomAD
rs753333515 CA1830236	727	S>C		No	ClinGen ExAC TOPMed gnomAD
CA1830235 rs777335520	728	L>V		No	ClinGen ExAC gnomAD
CA1830233 rs752116033	731	S>R		No	ClinGen ExAC gnomAD
CA348223269 rs1172280612	732	P>R		No	ClinGen TOPMed
CA1830232 rs766801785	732	P>T		No	ClinGen ExAC gnomAD
rs1375403921 CA348223253	735	A>T		No	ClinGen TOPMed
CA348223234 rs1389766494	737	Q>H		No	ClinGen gnomAD
rs763336336 CA348223233	738	M>L		No	ClinGen ExAC gnomAD
rs763336336 CA1830231	738	M>V		No	ClinGen ExAC gnomAD
TCGA novel	739	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA53571637 rs1055606193	739	K>N		No	ClinGen TOPMed
CA348223216 rs1412511408	740	D>G		No	ClinGen gnomAD
CA1830229 rs199794368	740	D>N		No	ClinGen ExAC TOPMed gnomAD
CA1830230 rs199794368	740	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs904571616 CA53571626	744	S>L		No	ClinGen TOPMed gnomAD
rs1313722906 CA348223170	746	N>T		No	ClinGen TOPMed
CA348223165 rs1473472305	747	L>F		No	ClinGen gnomAD
CA1830228 rs531936327	748	S>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776640838 CA1830227	748	S>R		No	ClinGen ExAC TOPMed gnomAD
CA1830226 rs768795828	753	T>A		No	ClinGen ExAC gnomAD
rs1320117347 CA348223120	754	L>R		No	ClinGen TOPMed gnomAD
CA348223113 rs1480064144	756	F>L		No	ClinGen TOPMed
rs760605922 CA1830224	759	I>L		No	ClinGen ExAC gnomAD
CA348223082 rs181246140	760	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1830222 rs181246140	760	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs549320657 CA1830221	761	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs549320657 CA1830220	761	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	762	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770778062 CA1830218	762	I>T		No	ClinGen ExAC gnomAD
rs199872902 CA1830219	762	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1830217 rs368590852	763	F>I		No	ClinGen ExAC TOPMed gnomAD
rs143332543 CA1830216	765	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1352821732 CA348223049	766	L>F		No	ClinGen TOPMed
rs1553426605 CA348223041	767	H>R		No	ClinGen Ensembl
rs1449972808 CA348223043	767	H>Y		No	ClinGen gnomAD
rs755651196 CA1830215	768	L>V		No	ClinGen ExAC gnomAD
CA1830213 rs375259023	769	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs752105245 CA1830214	769	V>L		No	ClinGen ExAC gnomAD
rs758879369 CA1830212	770	Y>C		No	ClinGen ExAC gnomAD
rs1222507369 CA348223027	770	Y>N		No	ClinGen TOPMed gnomAD
CA348223017 rs1302431645	771	E>A		No	ClinGen TOPMed
CA1830211 rs750827131	772	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs762026438 CA1830209	773	L>R		No	ClinGen ExAC gnomAD
CA348222978 rs1230516563	776	N>H		No	ClinGen TOPMed
CA1830208 rs754096349	779	M>T		No	ClinGen ExAC gnomAD
rs371417707 CA348222922	781	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs760832974 CA1830206	781	E>V		No	ClinGen ExAC TOPMed gnomAD
CA1830204 rs369489022	784	C>Y		No	ClinGen ESP ExAC gnomAD
rs1167391368 CA348222879	786	L>V		No	ClinGen gnomAD
CA348222853 rs1173783875	788	E>G		No	ClinGen TOPMed gnomAD
rs1391983641 CA348222858	788	E>K		No	ClinGen TOPMed gnomAD
CA348222852 rs1173783875	788	E>V		No	ClinGen TOPMed gnomAD
rs1191029496 CA348222840	789	L>P		No	ClinGen TOPMed
rs1450541530 CA348222845	789	L>V		No	ClinGen TOPMed
CA348222836 rs1432397733	790	L>I		No	ClinGen TOPMed gnomAD
rs1192059009 CA348222828	791	V>I		No	ClinGen gnomAD
rs1490892065 CA348222822	792	Q>K		No	ClinGen gnomAD
CA348222819 rs1249834947	792	Q>R		No	ClinGen gnomAD
CA348222565 rs1483196620	797	L>F		No	ClinGen gnomAD
rs1257052005 CA348222563	798	K>Q		No	ClinGen gnomAD
CA1830183 rs756261861	798	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1228606951 CA348222476	804	D>G		No	ClinGen gnomAD
CA1830180 rs759628009	805	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs774430369 CA1830179	807	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA1830178 rs371982707	808	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs762826752 CA1830177	809	D>E		No	ClinGen ExAC gnomAD
rs1468786431 CA348222386	810	Y>H		No	ClinGen TOPMed
rs769523865 CA1830175	812	T>A		No	ClinGen ExAC TOPMed gnomAD
rs139503565 CA1830174	812	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs769523865 CA1830176	812	T>P		No	ClinGen ExAC TOPMed gnomAD
CA348222344 rs1558702467	813	L>F		No	ClinGen Ensembl
CA348222294 rs1365657336	817	T>A		No	ClinGen gnomAD
rs1423276957 CA348222275	818	G>A		No	ClinGen gnomAD
rs1423276957 CA348222276	818	G>E		No	ClinGen gnomAD
CA348222280 rs746482293 CA1830171	818	G>R		No	ClinGen ExAC gnomAD
rs757683496 CA348222250	820	V>L		No	ClinGen ExAC TOPMed gnomAD
rs757683496 CA1830169	820	V>M		No	ClinGen ExAC TOPMed gnomAD
rs749705480 CA1830168	822	T>I		No	ClinGen ExAC TOPMed gnomAD
CA348222213 rs1209004934	823	I>L		No	ClinGen TOPMed gnomAD
rs1209004934 CA348222211	823	I>V		No	ClinGen TOPMed gnomAD
CA348222187 rs777998472	825	P>A		No	ClinGen ExAC TOPMed gnomAD
CA1830167 rs777998472	825	P>S		No	ClinGen ExAC TOPMed gnomAD
CA1830143 rs751727151	827	Q>E		No	ClinGen ExAC gnomAD
rs758418162 CA1830141	828	T>A		No	ClinGen ExAC gnomAD
rs750341130 CA1830140	829	G>E		No	ClinGen ExAC TOPMed gnomAD
CA53569856 rs765181720	831	M>L		No	ClinGen ExAC TOPMed gnomAD
CA1830139 rs765181720	831	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1553425621 CA348221997	832	H>Y		No	ClinGen Ensembl
CA1830138 rs761620293	834	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs760318520 CA1830135	841	P>S		No	ClinGen ExAC gnomAD
CA348221823 rs1451799127	847	W>R		No	ClinGen gnomAD
CA348221794 rs1227198718	849	S>T		No	ClinGen gnomAD
TCGA novel	850	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1270533368 CA348221769	851	C>F		No	ClinGen gnomAD
CA348221746 rs141017524 CA1830133	853	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1830134 rs138768312	853	K>R		No	ClinGen ESP ExAC TOPMed
CA1830130 rs145838393	856	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1527759 CA1830129 rs149309834	857	M>I	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1558700221 CA348221710	857	M>V		No	ClinGen Ensembl
rs1273997025 CA348221690	858	P>L		No	ClinGen gnomAD
CA1830128 rs781660125	858	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1830127 COSM110227 rs141167389	859	P>L	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs1302169601 CA348221661	861	P>S		No	ClinGen TOPMed
rs747219169 CA1830126	862	Y>H		No	ClinGen ExAC gnomAD
rs201476913 CA1830125	864	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs201476913 CA348221625	864	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs146886563 CA1830124	865	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs146886563 CA348221619	865	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1830123 rs750467117	870	S>G		No	ClinGen ExAC TOPMed
CA1830122 rs778765663	871	R>G		No	ClinGen ExAC gnomAD
rs757156864 CA1830121 COSM3836582	871	R>K	breast [Cosmic]	No	ClinGen cosmic curated ExAC
TCGA novel	873	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348220115 rs1558695367	876	S>N		No	ClinGen Ensembl
rs778961446 CA1830105	877	I>T		No	ClinGen ExAC gnomAD
rs1360390875 CA348220102	878	A>S		No	ClinGen TOPMed
CA348220099 rs1178449941	878	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1830104 rs367603648	879	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA348220085 rs1462541410	881	I>V		No	ClinGen gnomAD
rs755939105 CA1830101	883	G>A		No	ClinGen ExAC gnomAD
rs755939105 CA1830102	883	G>V		No	ClinGen ExAC gnomAD
CA348220067 rs1207119203	884	D>N		No	ClinGen TOPMed gnomAD
TCGA novel	885	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1334845011 CA348220049	886	S>N		No	ClinGen TOPMed gnomAD
rs1334845011 CA348220047	886	S>T		No	ClinGen TOPMed gnomAD
CA1830100 rs752483759	887	L>V		No	ClinGen ExAC gnomAD
rs1280357798 CA348220016	888	V>A		No	ClinGen TOPMed
rs1225546172 CA348220023	888	V>F		No	ClinGen gnomAD
CA1830099 rs767121801	890	D>N		No	ClinGen ExAC TOPMed gnomAD
CA1830098 rs754625369	892	S>C		No	ClinGen ExAC gnomAD
CA1830096 rs540685853	895	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA348219919 rs540685853	895	Y>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1434757172 CA348219896	897	T>A		No	ClinGen gnomAD
rs578152172 CA1830095	898	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	898	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777281623 CA1830094	900	T>S		No	ClinGen ExAC gnomAD
rs1412441801 CA348219843	901	I>V		No	ClinGen gnomAD
CA348219828 rs1163815631	902	A>S		No	ClinGen gnomAD
CA1830072 COSM1005424 rs201447717	902	A>V	endometrium Variant assessed as Somatic; 4.625e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1223357335 CA348219734	903	P>L		No	ClinGen TOPMed gnomAD
rs1228292215 CA348219714	904	Q>H		No	ClinGen gnomAD
TCGA novel	904	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1412927396 CA348219707	905	K>E		No	ClinGen gnomAD
CA1830068 rs774590349	905	K>M		No	ClinGen ExAC gnomAD
CA1830066 rs373767122 CA1830067	906	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA1830065 rs773241652	911	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs748100620 CA1830063	913	N>S		No	ClinGen ExAC gnomAD
rs746840821 CA1830041	920	S>F		No	ClinGen ExAC gnomAD
CA1830038 rs373471129	922	S>C		No	ClinGen ESP ExAC gnomAD
CA1830039 rs528718391	922	S>T		No	ClinGen ExAC TOPMed gnomAD
CA348219326 rs1267053906	927	A>P		No	ClinGen gnomAD
CA1830036 rs370220917	927	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1830035 rs189604622	930	L>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1220605664 CA348219234	933	W>C		No	ClinGen TOPMed
TCGA novel	937	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA53561481 rs992863533	940	T>I		No	ClinGen TOPMed gnomAD
rs1487840395 CA348219020	942	R>K		No	ClinGen TOPMed gnomAD
TCGA novel	943	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1573394192 CA348218957	947	L>V		No	ClinGen Ensembl
rs1448111749 CA348218909	950	G>V		No	ClinGen gnomAD
CA348218856 rs1573394146	954	P>L		No	ClinGen Ensembl
rs1300357270 CA348218866	954	P>S		No	ClinGen TOPMed
rs1307907576 CA348218820	957	D>V		No	ClinGen TOPMed
rs1193502979 CA348218804	958	A>V		No	ClinGen gnomAD
CA348218799 rs1573394105	959	I>V		No	ClinGen Ensembl
rs1573394095 CA348218769	961	H>P		No	ClinGen Ensembl
CA348218741 rs1246645700	963	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	968	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	969	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1448348045 CA348218636	971	P>S		No	ClinGen gnomAD
rs958699080 CA53561480	978	I>V		No	ClinGen TOPMed
TCGA novel	979	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1229476530 CA348218543	980	R>C		No	ClinGen TOPMed
CA348218537 rs1272471354	980	R>H		No	ClinGen TOPMed
CA348218469 rs1340773789	985	K>T		No	ClinGen TOPMed
CA348218455 rs1270543754	986	Q>*		No	ClinGen TOPMed
rs1489733149 CA348218450	986	Q>H		No	ClinGen TOPMed
CA348218418 rs1267075110	989	E>K		No	ClinGen TOPMed
CA348218394 rs1429553411	990	G>R		No	ClinGen TOPMed
rs1173144412 CA348218373	991	N>D		No	ClinGen TOPMed
rs1388870702 CA348218351	992	L>S		No	ClinGen TOPMed
rs1429108952 CA348218320	994	K>T		No	ClinGen TOPMed
CA348217394 rs1267218406	1001	S>L		No	ClinGen TOPMed
CA348217392 rs1404421318	1002	D>H		No	ClinGen gnomAD
CA348217385 rs1366261351	1003	V>I		No	ClinGen gnomAD
rs1305559066 CA348217377	1004	P>S	Variant assessed as Somatic; 0.0002719 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1191100493 CA348217347	1009	T>A		No	ClinGen TOPMed
rs1014868260 CA53560938	1010	E>Q		No	ClinGen TOPMed
rs2944550 CA53560917	1012	E>K		No	ClinGen Ensembl
rs748865128 CA1830017	1013	D>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1016	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348217254 rs1292750900	1021	H>Y		No	ClinGen TOPMed
TCGA novel	1022	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA53560894 rs937171051	1024	M>I		No	ClinGen TOPMed gnomAD
CA53560895 rs1056990255	1024	M>T		No	ClinGen TOPMed gnomAD
rs200181614 CA53560893	1025	S>P		No	ClinGen Ensembl
rs905983604 CA53560888	1026	L>S		No	ClinGen TOPMed gnomAD
CA348217198 rs1228402497	1029	S>G		No	ClinGen TOPMed
CA348217196 rs1368601038	1029	S>N		No	ClinGen TOPMed gnomAD
CA348217166 rs1319579848	1033	R>K		No	ClinGen TOPMed
rs1272914988 CA348217154	1035	Q>*		No	ClinGen TOPMed
CA348217145 rs1270380955	1036	D>G		No	ClinGen TOPMed gnomAD
rs1270380955 CA348217144	1036	D>V		No	ClinGen TOPMed gnomAD
CA348217136 rs1179990180	1037	V>A		No	ClinGen TOPMed gnomAD
CA348217133 rs1437191682	1038	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1485544572 CA348217131	1038	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA348217129 rs1273579465	1039	R>G		No	ClinGen TOPMed gnomAD
rs1197338150 CA348217123	1039	R>S		No	ClinGen gnomAD
rs1342539747 CA348217089	1044	A>G		No	ClinGen TOPMed gnomAD
rs1173436286 CA348217094	1044	A>T		No	ClinGen gnomAD
CA348217091 rs1342539747	1044	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA348217083 rs1458630202	1045	H>L		No	ClinGen TOPMed
CA1830014 rs747530702	1047	V>L		No	ClinGen ExAC TOPMed gnomAD
CA53560880 rs913209273	1048	R>C		No	ClinGen TOPMed gnomAD
rs1285246821 CA348217056	1048	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	1050	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348217022 rs1330075728	1051	V>I		No	ClinGen gnomAD
rs1400512050 CA348217004	1052	V>A		No	ClinGen gnomAD
CA348217010 rs1412053988	1052	V>M		No	ClinGen TOPMed gnomAD
CA53560874 rs989034244	1053	Q>P		No	ClinGen TOPMed gnomAD
rs1179428209 CA348216970	1054	Y>C		No	ClinGen gnomAD
rs1430914989 CA348216979	1054	Y>H		No	ClinGen gnomAD
CA348216952 rs1233398075	1055	P>A		No	ClinGen gnomAD
rs750705552 CA348216941	1055	P>L		No	ClinGen ExAC TOPMed gnomAD
rs750705552 CA1830011	1055	P>R		No	ClinGen ExAC TOPMed gnomAD
CA348216949 rs1233398075	1055	P>S		No	ClinGen gnomAD
CA348216890 rs1381219060	1058	S>G		No	ClinGen Ensembl
TCGA novel	1059	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs985685010 CA53560840	1060	H>L		No	ClinGen TOPMed
TCGA novel	1061	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1065	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1069	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1829991 rs754009412	1071	L>F		No	ClinGen ExAC TOPMed gnomAD
rs536676351 CA1829990	1072	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1167755631 CA348216392	1074	C>R		No	ClinGen TOPMed
rs1385414087 CA348216372	1075	Q>K		No	ClinGen gnomAD
rs1573387067 CA348216271	1082	V>L		No	ClinGen Ensembl
CA348216252 rs1345320267	1084	R>*		No	ClinGen gnomAD
CA348216248 rs1319740590	1084	R>Q		No	ClinGen TOPMed gnomAD
rs940176415 CA53559830	1088	T>A		No	ClinGen TOPMed
rs1164119992 CA348216155	1089	L>F		No	ClinGen gnomAD
CA348216113 rs1446290608	1091	S>L		No	ClinGen TOPMed gnomAD
CA348216107 rs1573386980	1092	Y>S		No	ClinGen Ensembl
CA348216081 rs1355917532	1094	P>T		No	ClinGen TOPMed
rs1047524521 CA53559823	1102	I>F		No	ClinGen TOPMed gnomAD
CA348215995 rs1047524521	1102	I>V		No	ClinGen TOPMed gnomAD
rs1223876355 CA348215908	1108	T>S		No	ClinGen TOPMed
CA348215829 rs1223868345	1110	R>C		No	ClinGen TOPMed gnomAD
CA348215825 rs1362086812	1110	R>H		No	ClinGen TOPMed gnomAD
rs1293853413 CA348215796	1114	R>Q		No	ClinGen TOPMed gnomAD
rs1281390725 CA348215797	1114	R>W		No	ClinGen TOPMed
rs1272113069 CA348215755	1120	L>P		No	ClinGen TOPMed
CA348215664 rs1292309197	1127	V>M		No	ClinGen TOPMed
CA348215562 rs1271505235	1134	W>C		No	ClinGen TOPMed gnomAD
CA348215446 rs1573380676	1143	A>G		No	ClinGen Ensembl
CA348215394 rs1364404840	1148	A>V		No	ClinGen TOPMed gnomAD
rs1426450680 CA348215348	1151	S>F		No	ClinGen gnomAD
CA348215330 rs1352646956	1153	I>V		No	ClinGen gnomAD
CA348215233 rs1410260856	1158	I>T		No	ClinGen TOPMed gnomAD
CA348215245 rs1573380603	1158	I>V		No	ClinGen Ensembl
CA348215152 rs1573380543	1164	K>Q		No	ClinGen Ensembl
rs1479533744 CA348215072	1170	N>S		No	ClinGen TOPMed gnomAD
rs1268226665 CA348215055	1171	E>K		No	ClinGen gnomAD
CA348214843 rs1200840594	1185	L>F		No	ClinGen gnomAD
CA348214779 rs1490990119	1189	A>V		No	ClinGen gnomAD
CA53558916 rs534193972	1198	T>P		No	ClinGen 1000Genomes TOPMed gnomAD
CA348213892 rs1407477893	1203	M>V		No	ClinGen TOPMed
CA348213851 rs1415227648	1206	I>T		No	ClinGen TOPMed
rs1178569989 CA348213815	1210	L>F		No	ClinGen TOPMed
CA348213760 rs1468407881	1214	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1428797372 CA348213746	1216	K>E		No	ClinGen gnomAD
CA348213741 rs1177284619	1216	K>T		No	ClinGen TOPMed gnomAD
rs759383718 CA1829985	1221	D>H		No	ClinGen ExAC TOPMed
rs1481188926 CA348213681	1221	D>V		No	ClinGen TOPMed gnomAD
rs1307941564 CA348213671	1222	M>L		No	ClinGen TOPMed
rs1202114204 CA348213637	1224	I>T		No	ClinGen TOPMed gnomAD
rs751433263 COSM371382 CA1829984	1224	I>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA348213622 rs1263309315	1226	R>Q		No	ClinGen gnomAD
rs1322440253 CA348213624	1226	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1276145935 CA348213601	1228	L>V		No	ClinGen TOPMed
CA53557082 rs2686027	1231	H>R		No	ClinGen Ensembl
CA348213534 rs1203446802	1233	P>L		No	ClinGen TOPMed
CA53557078 rs147822390	1234	A>S		No	ClinGen ESP TOPMed
CA53557074 rs1036816528	1237	P>A		No	ClinGen TOPMed
CA1829981 rs772884902	1237	P>L		No	ClinGen ExAC
rs769388456 CA1829980	1238	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1423331478 CA348213483	1238	P>L		No	ClinGen TOPMed
rs769388456 CA348213485	1238	P>S		No	ClinGen ExAC TOPMed gnomAD
CA348213488 rs769388456	1238	P>T		No	ClinGen ExAC TOPMed gnomAD
CA1829979 rs761362878	1239	T>A		No	ClinGen ExAC TOPMed gnomAD
CA348213473 rs776088773	1239	T>K		No	ClinGen ExAC TOPMed gnomAD
CA1829978 rs776088773	1239	T>M		No	ClinGen ExAC TOPMed gnomAD
CA53557044 rs937632916	1242	E>K		No	ClinGen TOPMed
TCGA novel	1243	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348213419 rs1337570163	1244	D>A		No	ClinGen gnomAD
CA348213416 rs1467708235	1245	V>I		No	ClinGen gnomAD
rs1467708235 CA348213415	1245	V>L		No	ClinGen gnomAD
CA1829977 rs772625284	1246	P>L		No	ClinGen ExAC gnomAD
rs1328162879 CA348213402	1247	H>P		No	ClinGen TOPMed
CA348213393 rs1159080391	1248	N>S		No	ClinGen gnomAD
CA348213363 rs1382663922	1253	A>S		No	ClinGen gnomAD
CA348213352 rs1573368888	1254	V>G		No	ClinGen Ensembl
CA348213346 rs1573368883	1255	V>G		No	ClinGen Ensembl
CA53557022 rs927539848	1256	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1573368835 CA348213323	1259	L>P		No	ClinGen Ensembl
CA348213321 rs978905940	1260	V>I		No	ClinGen TOPMed gnomAD
rs978905940 CA53557009	1260	V>L		No	ClinGen TOPMed gnomAD
CA348213312 rs1279200658	1261	Y>C		No	ClinGen TOPMed
CA348213301 rs1484628673	1262	Q>H		No	ClinGen gnomAD
CA348213293 rs1573368780	1264	T>A		No	ClinGen Ensembl
TCGA novel	1264	T>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1239075020 CA348213185	1273	L>V		No	ClinGen TOPMed gnomAD
rs1318689701 CA348213167	1274	L>F		No	ClinGen TOPMed gnomAD
TCGA novel	1275	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348213133 rs1573368721	1277	I>T		No	ClinGen Ensembl
rs1359949880 CA348213033	1279	R>P		No	ClinGen gnomAD
rs1326425273 CA348213037	1279	R>W		No	ClinGen TOPMed
rs534883527 CA53555992	1285	M>V		No	ClinGen 1000Genomes TOPMed gnomAD
CA348212940 rs1352805248	1287	Y>C		No	ClinGen Ensembl
CA348212902 rs1324917659	1289	T>A		No	ClinGen TOPMed gnomAD
rs1295056534 CA348212888	1289	T>I		No	ClinGen gnomAD
rs1342450134 CA348212850	1292	E>K		No	ClinGen gnomAD
rs1301877373 CA348212799	1295	S>A		No	ClinGen gnomAD
CA1829970 rs752887546	1297	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1303	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348212173 rs1165392011	1308	G>W		No	ClinGen gnomAD
TCGA novel	1313	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1387553147 CA348211997	1317	S>C		No	ClinGen TOPMed
CA348211992 rs1553418304	1318	D>N		No	ClinGen Ensembl
CA348211958 rs1305948219	1320	N>S		No	ClinGen TOPMed
rs1404365467 CA348211900	1325	L>I		No	ClinGen TOPMed gnomAD
rs1299525076 CA348211882	1326	Y>C		No	ClinGen gnomAD
rs1326042110 CA348211810	1332	G>A		No	ClinGen gnomAD
TCGA novel	1332	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348211783 rs1396217652	1334	R>T		No	ClinGen gnomAD
CA53555640 rs924737409	1335	R>C		No	ClinGen TOPMed
CA348211771 rs1159635391	1335	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA348211746 rs1168188888	1337	Q>P		No	ClinGen TOPMed gnomAD
CA348211700 rs1553418278	1341	H>Y		No	ClinGen Ensembl
TCGA novel	1342	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1488552196 CA348211677	1342	R>S		No	ClinGen TOPMed
TCGA novel	1343	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348211671 rs1466883805	1343	E>G		No	ClinGen gnomAD
CA348211591 rs1175096066	1351	Q>K		No	ClinGen gnomAD
rs1461103514 CA348211425	1362	V>M		No	ClinGen TOPMed
rs1319281424 CA348211385	1365	P>S		No	ClinGen TOPMed
rs1428343836 CA348211272	1373	M>V		No	ClinGen TOPMed
CA348211250 rs1355952007	1375	Y>H		No	ClinGen TOPMed
rs1235069407 CA348211227	1378	T>A		No	ClinGen TOPMed
rs1333592797 CA348211216	1379	N>K		No	ClinGen TOPMed
CA348211219 rs1179573821	1379	N>S		No	ClinGen TOPMed gnomAD
CA348211174 rs1374224455	1381	R>S		No	ClinGen TOPMed
CA348211159 rs761450519	1383	I>F		No	ClinGen ExAC TOPMed gnomAD
rs761450519 CA1829961	1383	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1341051678 CA348211150	1384	A>T		No	ClinGen TOPMed gnomAD
CA348211098 rs1241593086	1388	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs776208488 CA1829960	1388	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1345562824 CA348211090	1389	A>T		No	ClinGen TOPMed
CA348211085 rs1443115782	1389	A>V		No	ClinGen TOPMed gnomAD
rs1203424946 CA348211065	1391	D>A		No	ClinGen gnomAD
CA348211073 rs1280855233	1391	D>N		No	ClinGen gnomAD
rs1350598741 CA348211051	1392	T>I		No	ClinGen gnomAD
CA348211053 rs1350598741	1392	T>S		No	ClinGen gnomAD
rs1558677439 CA348211037	1393	M>I		No	ClinGen Ensembl
CA348211039 rs1251360703	1393	M>T		No	ClinGen TOPMed
TCGA novel	1398	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348210953 rs1454455551	1399	V>L		No	ClinGen TOPMed
CA348210932 rs1313983774	1401	P>A		No	ClinGen gnomAD
CA348210930 rs1313983774	1401	P>S		No	ClinGen gnomAD
rs1194580902 CA348210914	1402	E>D		No	ClinGen TOPMed
rs1376040686 CA348210764	1408	T>A		No	ClinGen TOPMed gnomAD
CA348210751 rs1279433110	1409	L>I		No	ClinGen TOPMed
CA348210729 rs1267982576	1411	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA348210659 rs1220952048	1417	D>G		No	ClinGen TOPMed
CA348210637 rs1429484711	1418	D>G		No	ClinGen gnomAD
rs1340590284 CA348210612	1419	I>T		No	ClinGen gnomAD
CA348210630 rs1472893824	1419	I>V		No	ClinGen gnomAD
rs1276670481 CA348210594	1421	P>A		No	ClinGen TOPMed
rs1300005945 CA348210560	1424	K>E		No	ClinGen TOPMed gnomAD
rs562484721 CA1829950	1429	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA348222776 rs1438429274	1434	I>V		No	ClinGen gnomAD
rs1209904828 CA348222769	1435	R>G		No	ClinGen TOPMed
CA348222742 rs1352516951	1438	S>I		No	ClinGen gnomAD
CA348222677 rs1424560770	1447	P>L		No	ClinGen gnomAD
CA53568523 rs980475078	1455	E>D		No	ClinGen TOPMed
CA348222614 rs1479462043	1456	T>N		No	ClinGen gnomAD
CA53568519 rs552916372	1458	S>F		No	ClinGen 1000Genomes TOPMed
CA348222562 rs1374741282	1459	Q>*		No	ClinGen TOPMed
rs747100125 CA1829931	1459	Q>P		No	ClinGen ExAC gnomAD
CA348222559 rs747100125	1459	Q>R		No	ClinGen ExAC gnomAD
rs780177993 CA1829930	1460	A>T		No	ClinGen ExAC gnomAD
rs1256102928 CA348222508	1463	Y>C		No	ClinGen gnomAD
rs745808341 CA1829928	1464	I>V		No	ClinGen ExAC gnomAD
CA348222464 rs1446224048	1466	A>V		No	ClinGen TOPMed
rs778781510 CA1829927	1468	A>G		No	ClinGen ExAC gnomAD
rs994678202 CA53568299	1468	A>S		No	ClinGen Ensembl
CA1829926 rs757064812	1469	C>Y		No	ClinGen ExAC gnomAD
rs1378828311 CA348222368	1475	R>L		No	ClinGen gnomAD
rs1378828311 CA348222365	1475	R>Q		No	ClinGen gnomAD
CA348222349 rs1304406090	1477	A>P		No	ClinGen TOPMed
rs1440368405 CA348222332	1478	G>A		No	ClinGen TOPMed gnomAD
rs763690278 CA348222274	1483	S>A		No	ClinGen ExAC TOPMed gnomAD
CA1829925 rs763690278	1483	S>P		No	ClinGen ExAC TOPMed gnomAD
CA1829924 rs763690278	1483	S>T		No	ClinGen ExAC TOPMed gnomAD
CA53568274 rs1006128802	1484	A>V		No	ClinGen TOPMed
rs752203127 CA1829922	1485	F>S		No	ClinGen ExAC TOPMed gnomAD
rs767064143 CA1829921	1486	N>S		No	ClinGen ExAC TOPMed gnomAD
CA1829894 rs762407020	1489	H>R		No	ClinGen ExAC gnomAD
CA348222129 rs1276202079	1494	D>Y		No	ClinGen TOPMed
CA53568141 CA348222108 rs1044904541	1496	M>I		No	ClinGen TOPMed gnomAD
CA1829893 rs754213702	1497	T>I		No	ClinGen ExAC gnomAD
CA348222088 rs1368745140	1499	L>F		No	ClinGen TOPMed gnomAD
rs1338942211 CA348222082	1500	S>F		No	ClinGen gnomAD
CA348222081 rs1426264481	1501	A>T		No	ClinGen gnomAD
CA348222068 rs1193698216	1503	N>D		No	ClinGen gnomAD
rs1262069974 CA348222064	1503	N>I		No	ClinGen TOPMed
CA348222061 rs1489248962	1504	A>P		No	ClinGen TOPMed gnomAD
rs1489248962 CA348222059	1504	A>S		No	ClinGen TOPMed gnomAD
CA53568124 rs554736311	1506	V>I		No	ClinGen 1000Genomes gnomAD
CA1829874 rs754399096	1513	E>D		No	ClinGen ExAC gnomAD
rs757789549 CA1829875	1513	E>Q		No	ClinGen ExAC gnomAD
rs761148732 CA1829872	1517	S>G		No	ClinGen ExAC TOPMed gnomAD
CA1829871 rs752971771	1517	S>I		No	ClinGen ExAC gnomAD
CA348221269 rs370295733	1518	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1829869 rs370295733	1518	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA348221228 rs762905195	1522	S>A		No	ClinGen ExAC TOPMed gnomAD
rs773227100 CA1829865	1522	S>F		No	ClinGen ExAC gnomAD
rs762905195 CA1829866	1522	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1332134282 CA348221219	1523	L>F		No	ClinGen gnomAD
CA348221204 rs1219992367	1524	A>G		No	ClinGen TOPMed
rs148071783 CA53567622	1524	A>P		No	ClinGen 1000Genomes
CA348221191 rs1389964946	1525	M>T		No	ClinGen gnomAD
CA53567616 rs537157408	1525	M>V		No	ClinGen 1000Genomes
CA1829863 rs748018684	1529	G>A		No	ClinGen ExAC gnomAD
rs1399112012 CA348221143	1529	G>S		No	ClinGen gnomAD
COSM1305547 rs1446951650 CA348221123	1530	S>L	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs371253262 CA1829861	1530	S>T		No	ClinGen ESP ExAC gnomAD
rs971060655 CA53567605	1532	N>H		No	ClinGen TOPMed gnomAD
rs149586183 CA1829860	1533	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1534	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757947467 CA1829858	1535	V>G		No	ClinGen ExAC gnomAD
rs779786301 CA1829859	1535	V>I		No	ClinGen ExAC gnomAD
rs1237878656 CA348220993	1540	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1573334903 CA348220962	1544	M>K		No	ClinGen Ensembl
CA1829857 rs745347333	1544	M>L		No	ClinGen ExAC gnomAD
CA1829856 rs778382016	1546	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1346334012 CA348220910	1551	N>S		No	ClinGen gnomAD
COSM3836578 rs1573334839 CA348220902	1552	Y>C	breast [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1277062691 CA348220892	1554	F>V		No	ClinGen gnomAD
CA348220880 rs1238501675	1555	H>R		No	ClinGen gnomAD
CA348220864 rs1376585743	1557	A>V		No	ClinGen gnomAD
CA1829853 rs767877268	1558	H>Y		No	ClinGen ExAC gnomAD
rs1332933658 CA348220847	1560	M>V		No	ClinGen gnomAD
TCGA novel	1571	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751901403 CA1829831	1574	L>S		No	ClinGen ExAC gnomAD
TCGA novel	1574	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348220342 rs1320283843	1575	S>N		No	ClinGen gnomAD
CA1829830 rs766667840	1576	T>I		No	ClinGen ExAC gnomAD
CA348220333 rs1387883406	1576	T>P		No	ClinGen gnomAD
rs142179264 CA1829829	1578	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1829828 rs750574891	1578	N>K		No	ClinGen ExAC gnomAD
rs765246504 CA1829827	1579	S>P		No	ClinGen ExAC gnomAD
CA348220265 rs1573325489	1581	I>V		No	ClinGen Ensembl
CA1829826 rs368093626	1582	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1224505277 CA348220239	1583	A>G		No	ClinGen gnomAD
CA1829824 rs760585060	1583	A>S		No	ClinGen ExAC TOPMed gnomAD
COSM1005407 rs760585060 CA1829823	1583	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA53566301 rs112272775	1584	L>P		No	ClinGen Ensembl
rs775420197 CA1829822	1587	A>S		No	ClinGen ExAC gnomAD
CA1829821 rs771814003	1588	L>R		No	ClinGen ExAC gnomAD
CA348220204 rs1406204019	1589	Y>*		No	ClinGen gnomAD
rs370250588 CA1829820	1589	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs370250588 CA1829819	1589	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA1829817 rs748744660	1590	P>L		No	ClinGen ExAC TOPMed gnomAD
rs748744660 CA1829818	1590	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA1829814 rs747444495	1591	H>N		No	ClinGen ExAC gnomAD
CA348220196 rs1425052045	1591	H>P		No	ClinGen gnomAD
CA348220193 rs1573325344	1591	H>Q		No	ClinGen Ensembl
rs1372670428 CA348220190	1592	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1558665611 CA348220180	1593	P>L		No	ClinGen Ensembl
CA348220170 rs1246518077	1595	H>D		No	ClinGen gnomAD
CA348220167 rs1222725607	1595	H>R		No	ClinGen gnomAD
rs1206268498 CA348220150	1597	T>I		No	ClinGen gnomAD
CA348220151 rs1206268498	1597	T>S		No	ClinGen gnomAD
CA348220144 rs1317997199	1598	D>V		No	ClinGen gnomAD
COSM201322 CA1829808 rs371127987	1600	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed
CA1829809 rs779157640 COSM1527760	1600	R>W	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs374211993 CA1829790	1601	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1606	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1607	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1177423698 CA348219961	1607	R>W		No	ClinGen TOPMed gnomAD
CA1829787 rs756193157	1610	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs778012344 CA1829788	1610	Y>H		No	ClinGen ExAC gnomAD
rs767438191 CA1829785	1614	A>S		No	ClinGen ExAC gnomAD
CA348219875 rs1179664762	1614	A>V		No	ClinGen TOPMed gnomAD
CA348219810 rs1212119460	1620	V>E		No	ClinGen gnomAD
rs1558663505 CA348219802	1621	P>L		No	ClinGen Ensembl
CA348219801 rs1480321417	1622	V>M		No	ClinGen TOPMed
rs1573318871 CA348219778	1625	D>A		No	ClinGen Ensembl
CA348219773 rs1351348349	1626	T>A		No	ClinGen gnomAD
rs1285086057 CA348219768	1626	T>I		No	ClinGen gnomAD
rs1240524433 CA348219765	1627	N>D		No	ClinGen TOPMed gnomAD
rs751341287 CA348219749	1628	T>K		No	ClinGen ExAC TOPMed gnomAD
rs751341287 CA1829783	1628	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA348219743 rs1198406374	1629	P>S		No	ClinGen TOPMed
CA348219715 rs1478683440	1631	Y>H		No	ClinGen TOPMed
CA348219682 rs1367755834	1632	A>D		No	ClinGen TOPMed gnomAD
rs762584841 CA1829781	1636	V>A		No	ClinGen ExAC TOPMed gnomAD
rs533459247 CA1829763	1640	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs761280155 CA1829761	1642	Q>P		No	ClinGen ExAC gnomAD
rs1457119730 CA348218964	1643	W>*		No	ClinGen gnomAD
rs1457119730 CA348218962	1643	W>C		No	ClinGen gnomAD
rs776199700 CA1829760	1643	W>R		No	ClinGen ExAC TOPMed gnomAD
rs1573316907 CA348218954	1644	Y>D		No	ClinGen Ensembl
rs767964702 CA1829759	1645	E>K		No	ClinGen ExAC TOPMed gnomAD
CA1829758 rs760102215	1646	Q>*		No	ClinGen ExAC gnomAD
CA348218915 rs1476549596	1646	Q>H		No	ClinGen gnomAD
rs774931240 CA1829757	1648	K>E		No	ClinGen ExAC gnomAD
CA348218893 rs1194259228	1648	K>R		No	ClinGen gnomAD
CA1829755 rs749616796	1650	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1829753 rs773614684	1652	M>L		No	ClinGen ExAC gnomAD
CA348218824 rs770023587	1653	A>S		No	ClinGen ExAC TOPMed gnomAD
rs770023587 CA1829752	1653	A>T		No	ClinGen ExAC TOPMed gnomAD
CA348218805 rs1215705304	1654	P>L		No	ClinGen TOPMed gnomAD
rs1228816968 CA348218790	1656	L>I		No	ClinGen gnomAD
CA1829749 rs754958568	1658	P>L		No	ClinGen ExAC gnomAD
rs1299654211 CA348218764	1658	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs779926620 CA1829747	1659	E>D		No	ClinGen ExAC gnomAD
CA1829748 rs746974740	1659	E>Q		No	ClinGen ExAC gnomAD
CA1829746 rs758211866	1660	L>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1661	H>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs77591803 CA348218670	1664	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1312958980 CA348218678	1664	K>R		No	ClinGen gnomAD
rs1318457747 CA348218514	1672	R>G		No	ClinGen TOPMed
CA1829731 rs747043648	1673	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1182698316 CA348218471	1675	E>K		No	ClinGen gnomAD
CA348218409 rs1200363934	1678	I>T		No	ClinGen gnomAD
TCGA novel	1679	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348218378 rs1349169274	1680	L>I		No	ClinGen gnomAD
CA348218328 rs1282953661	1682	K>R		No	ClinGen gnomAD
CA348218312 rs745718417	1683	G>A		No	ClinGen ExAC TOPMed gnomAD
CA1829728 rs745718417	1683	G>E		No	ClinGen ExAC TOPMed gnomAD
CA348218306 rs1352600290	1684	T>A		No	ClinGen TOPMed gnomAD
CA348218291 rs1205494637	1684	T>I		No	ClinGen TOPMed
CA348218236 rs1240651795	1687	L>S		No	ClinGen TOPMed
rs865848448 CA348218138	1688	K>N		No	ClinGen gnomAD
TCGA novel	1689	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1829710 rs200960920	1690	I>M		No	ClinGen ExAC TOPMed gnomAD
CA1829709 rs745808233	1692	S>P		No	ClinGen ExAC gnomAD
rs532221957 CA348218072	1694	D>H		No	ClinGen 1000Genomes ExAC gnomAD
rs532221957 CA53564219	1694	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs532221957 CA1829707	1694	D>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs199539393 CA1829706	1695	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs755821664 CA1829704	1696	V>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs755821664 CA348218048	1696	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1829703 rs747721182	1700	K>E		No	ClinGen ExAC gnomAD
CA1829702 rs780865763	1701	L>F		No	ClinGen ExAC gnomAD
CA1829701 rs141227917	1702	R>G		No	ClinGen ESP ExAC gnomAD
CA1829699 rs757689989	1702	R>L		No	ClinGen ExAC gnomAD
CA1829698 rs757689989	1702	R>Q		No	ClinGen ExAC gnomAD
CA1829700 rs141227917	1702	R>W		No	ClinGen ESP ExAC gnomAD
CA1829697 rs764445007	1703	A>G		No	ClinGen ExAC TOPMed gnomAD
CA1829696 rs764445007	1703	A>V		No	ClinGen ExAC TOPMed gnomAD
CA1829694 rs775621054	1704	G>S		No	ClinGen ExAC
rs140525866 CA1829693	1704	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA348217948 rs1213848741	1705	Q>H		No	ClinGen gnomAD
CA348217917 rs1380912426	1708	Y>H		No	ClinGen gnomAD
rs549713775 CA1829691	1709	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749171831 CA1829689	1717	S>N		No	ClinGen ExAC gnomAD
rs772867160 CA1829688	1718	L>W		No	ClinGen ExAC TOPMed gnomAD
CA1829687 rs769657910	1722	T>A		No	ClinGen ExAC gnomAD
rs1325435144 CA348217711	1723	V>I		No	ClinGen gnomAD
rs1396811097 CA348217638	1728	S>P		No	ClinGen gnomAD
TCGA novel	1729	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1829684 rs746480356	1731	R>G		No	ClinGen ExAC TOPMed gnomAD
rs779516102 CA1829682	1731	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs746480356 CA1829683	1731	R>W		No	ClinGen ExAC TOPMed gnomAD
rs529953256 CA1829681	1732	A>D		No	ClinGen 1000Genomes ExAC gnomAD
rs187208725 CA1829680	1734	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA348216875 rs1356586869	1739	S>L		No	ClinGen TOPMed
rs1235918458 CA348216730	1748	L>P		No	ClinGen gnomAD
CA348216657 rs1176183866	1752	E>K		No	ClinGen gnomAD
rs1480672264 CA348216611	1753	Y>C		No	ClinGen gnomAD
CA348216598 rs1235691128	1754	F>I		No	ClinGen TOPMed
CA348216544 rs1234578234	1757	P>L		No	ClinGen gnomAD
rs1207962629 CA348216540	1758	T>A		No	ClinGen gnomAD
CA348216525 rs1311492927	1759	V>L		No	ClinGen gnomAD
CA348216478 rs1334314990	1762	G>D		No	ClinGen TOPMed
TCGA novel	1763	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348216290 rs1226620093	1764	K>Q		No	ClinGen gnomAD
rs755140560 CA1829656	1764	K>R		No	ClinGen ExAC gnomAD
CA348216267 rs1573304134	1765	Q>E		No	ClinGen Ensembl
CA1829655 rs751744521	1766	E>D		No	ClinGen ExAC gnomAD
CA348216238 rs1417055822	1766	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA348216153 rs1288862675	1770	L>H		No	ClinGen gnomAD
CA1829654 rs766376275	1771	F>L		No	ClinGen ExAC gnomAD
CA348216125 rs763049847	1772	S>A		No	ClinGen ExAC gnomAD
rs763049847 CA1829653	1772	S>P		No	ClinGen ExAC gnomAD
rs1162153256 CA348216096	1773	S>L		No	ClinGen gnomAD
CA348216085 rs1474589976	1775	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1376691721 CA348216083	1775	L>P		No	ClinGen TOPMed
CA1829651 rs765243742	1776	Y>C		No	ClinGen ExAC gnomAD
rs369779938 CA1829649	1777	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs149959069 CA1829647	1780	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA1829646 rs775165229	1783	T>I		No	ClinGen ExAC gnomAD
CA1829645 rs771500894	1784	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1293930009 CA348215937	1785	E>G		No	ClinGen gnomAD
CA1829644 rs745357859	1786	M>I		No	ClinGen ExAC gnomAD
CA1829643 rs778288700	1788	P>L		No	ClinGen ExAC gnomAD
rs1033981354 CA53562677	1788	P>S		No	ClinGen TOPMed gnomAD
CA348215900 rs1033981354	1788	P>T		No	ClinGen TOPMed gnomAD
TCGA novel	1789	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348215879 rs1363718526	1790	Y>D		No	ClinGen gnomAD
CA348215867 rs939797	1791	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA348215868 rs1197024833	1791	I>S		No	ClinGen TOPMed
CA1829640 rs781549280	1792	A>E		No	ClinGen ExAC TOPMed gnomAD
CA348215854 rs1422897069	1793	M>I		No	ClinGen TOPMed
CA348215857 rs1192848891	1793	M>T		No	ClinGen TOPMed
CA348215860 rs1394613362	1793	M>V		No	ClinGen gnomAD
rs755305148 CA1829639	1794	D>H		No	ClinGen ExAC gnomAD
TCGA novel	1795	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1037000982 CA53562149	1797	I>V		No	ClinGen TOPMed gnomAD
rs1172706634 CA348215555	1808	T>N		No	ClinGen gnomAD
rs1172706634 CA348215553	1808	T>S		No	ClinGen gnomAD
CA53562138 rs949630079	1812	W>R		No	ClinGen TOPMed
CA348215475 rs1253848922	1814	I>V		No	ClinGen TOPMed gnomAD
rs918151370 CA53562122	1820	F>V		No	ClinGen TOPMed
CA348215349 rs1436122218	1822	S>G		No	ClinGen TOPMed gnomAD
rs1316209129 CA348215319	1824	R>Q		No	ClinGen TOPMed
rs1055765887 CA53562117	1826	H>R		No	ClinGen TOPMed
CA348215255 rs1250498501	1829	R>Q		No	ClinGen gnomAD
rs1573300112 CA348215242	1831	Q>E		No	ClinGen Ensembl
rs1291114525 CA348215166	1836	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA348215168 rs1196906347	1836	R>W		No	ClinGen TOPMed gnomAD
rs1488697709 CA348215149	1838	L>F		No	ClinGen TOPMed
rs1446660541 CA348215091	1841	N>S		No	ClinGen TOPMed
CA348215006 rs1244791838	1848	V>L		No	ClinGen TOPMed
CA53562105 rs112868017	1849	K>E		No	ClinGen Ensembl
CA348214979 rs1387901479	1850	C>R		No	ClinGen gnomAD
CA348214908 rs1442678761	1856	L>V		No	ClinGen TOPMed
CA1829616 CA1829617 rs757342710	1863	G>R		No	ClinGen ExAC TOPMed gnomAD
CA348214060 rs1167069000	1864	G>V		No	ClinGen TOPMed
rs753847050 CA1829615	1865	D>N		No	ClinGen ExAC TOPMed gnomAD
CA348214039 rs1198426927	1866	M>I		No	ClinGen gnomAD
rs1349420577 CA348214043	1866	M>T		No	ClinGen gnomAD
rs911886927 CA53560722	1868	V>A		No	ClinGen TOPMed
rs755898705 CA1829613	1869	H>R		No	ClinGen ExAC gnomAD
rs541940832 CA348213977	1870	A>P		No	ClinGen 1000Genomes ExAC gnomAD
rs541940832 CA1829611	1870	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA1829610 rs759200169	1870	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1573290974 CA348213955	1871	Y>S		No	ClinGen Ensembl
CA1829609 rs773924819	1872	L>F		No	ClinGen ExAC gnomAD
rs1315911234 CA348213926	1873	S>R		No	ClinGen gnomAD
CA1829607 rs762401944	1874	G>E		No	ClinGen ExAC gnomAD
CA1829608 rs146337624	1874	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA348213855 rs1573290903	1877	L>W		No	ClinGen Ensembl
CA53560666 rs201237594	1878	E>D		No	ClinGen Ensembl
CA53560675 rs987459683	1878	E>K		No	ClinGen TOPMed gnomAD
rs1475794365 CA348213816	1879	E>D		No	ClinGen gnomAD
rs769175984 CA1829605	1879	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1880	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747402678 CA1829604	1882	L>V		No	ClinGen ExAC TOPMed gnomAD
rs775913747 CA1829603	1884	M>V		No	ClinGen ExAC gnomAD
CA348213688 rs1573290809	1888	F>S		No	ClinGen Ensembl
rs1332002633 CA348213680	1889	L>V		No	ClinGen gnomAD
CA1829601 rs746095622	1890	V>I		No	ClinGen ExAC TOPMed gnomAD
rs746095622 CA348213668	1890	V>L		No	ClinGen ExAC TOPMed gnomAD
CA1829600 rs779226295	1891	Y>C		No	ClinGen ExAC gnomAD
rs757457615 CA1829599	1892	H>Q		No	ClinGen ExAC gnomAD
rs749343807 CA1829598	1894	V>L		No	ClinGen ExAC gnomAD
rs963572665 CA53560596	1897	P>A		No	ClinGen TOPMed
CA348213506 rs1392407653	1902	P>S		No	ClinGen gnomAD
rs138965586 CA1829595	1903	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1907	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1908	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs547319583 CA348213260	1908	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs547319583 CA1829581	1908	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA348213251 rs1217098959	1909	T>P		No	ClinGen TOPMed
TCGA novel	1909	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1829580 rs749433563	1910	S>G		No	ClinGen ExAC gnomAD
rs1325372015 CA348213231	1910	S>N		No	ClinGen gnomAD
TCGA novel	1912	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs533809340 CA1829579	1912	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1352155647 CA348213182	1913	E>D		No	ClinGen gnomAD
CA348213162 rs1168920619	1915	L>I		No	ClinGen gnomAD
rs1409846422 CA348213127	1917	K>T		No	ClinGen gnomAD
rs769696162 CA1829578	1920	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	1923	M>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1186168238 CA348213070	1923	M>I		No	ClinGen TOPMed
rs748147430 CA1829577	1924	P>S		No	ClinGen ExAC gnomAD
rs780944055 CA1829576	1925	V>L		No	ClinGen ExAC
CA348213045 rs1394088830	1927	A>G		No	ClinGen gnomAD
CA1829575 rs571435533	1928	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs901515682 CA53559300	1932	A>S		No	ClinGen TOPMed gnomAD
rs758036080 CA1829572	1938	N>D		No	ClinGen ExAC gnomAD
CA1829571 rs551247468	1938	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA1829570 rs764811136	1939	P>R		No	ClinGen ExAC TOPMed gnomAD
CA348212800 rs1369847904	1940	Q>*		No	ClinGen TOPMed gnomAD
CA53559226 rs943288472	1940	Q>R		No	ClinGen TOPMed
rs753293375 CA1829568	1942	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1336126326 CA348212736	1944	M>L		No	ClinGen TOPMed gnomAD

1 associated diseases with Q9H1A4

[MIM: 618625]: Rothmund-Thomson syndrome 1 (RTS1)

An autosomal recessive disorder characterized by sparse hair, bilateral juvenile cataracts, and poikiloderma, a genodermatosis presenting with mottled pigmentation, telangiectasia and epidermal atrophy. Additional features are short stature, dystrophic and thin nails, and genital, skeletal and dental abnormalities. RTS1 is not associated with an increased risk of cancer. {ECO:0000269|PubMed:31303264}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal recessive disorder characterized by sparse hair, bilateral juvenile cataracts, and poikiloderma, a genodermatosis presenting with mottled pigmentation, telangiectasia and epidermal atrophy. Additional features are short stature, dystrophic and thin nails, and genital, skeletal and dental abnormalities. RTS1 is not associated with an increased risk of cancer. {ECO:0000269|PubMed:31303264}. Note=The disease is caused by variants affecting the gene represented in this entry.

2 regional properties for Q9H1A4

Type	Name	Position	InterPro Accession
domain	Anaphase-promoting complex subunit 1, C-terminal	1736 - 1895	IPR041221
domain	Anaphase-promoting complex subunit 1, middle domain	615 - 985	IPR046794

Functions

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

3 GO annotations of cellular component

Name	Definition
anaphase-promoting complex	A ubiquitin ligase complex that degrades mitotic cyclins and anaphase inhibitory protein, thereby triggering sister chromatid separation and exit from mitosis. Substrate recognition by APC occurs through degradation signals, the most common of which is termed the Dbox degradation motif, originally discovered in cyclin B.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.

1 GO annotations of molecular function

Name	Definition
molecular adaptor activity	The binding activity of a molecule that brings together two or more molecules through a selective, non-covalent, often stoichiometric interaction, permitting those molecules to function in a coordinated way.

6 GO annotations of biological process

Name	Definition
anaphase-promoting complex-dependent catabolic process	The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, with ubiquitin-protein ligation catalyzed by the anaphase-promoting complex, and mediated by the proteasome.
cell division	The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells.
metaphase/anaphase transition of mitotic cell cycle	The cell cycle process in which a cell progresses from metaphase to anaphase during mitosis, triggered by the activation of the anaphase promoting complex by Cdc20/Sleepy homolog which results in the degradation of Securin.
protein K11-linked ubiquitination	A protein ubiquitination process in which ubiquitin monomers are attached to a protein, and then ubiquitin polymers are formed by linkages between lysine residues at position 11 of the ubiquitin monomers. K11-linked polyubiquitination targets the substrate protein for degradation. The anaphase-promoting complex promotes the degradation of mitotic regulators by assembling K11-linked polyubiquitin chains.
regulation of meiotic cell cycle	Any process that modulates the rate or extent of progression through the meiotic cell cycle.
regulation of mitotic cell cycle	Any process that modulates the rate or extent of progress through the mitotic cell cycle.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MSNFYEERTT	MIAARDLQEF	VPFGRDHCKH	HPNALNLQLR	QLQPASELWS	SDGAAGLVGS
70	80	90	100	110	120
LQEVTIHEKQ	KESWQLRKGV	SEIGEDVDYD	EELYVAGNMV	IWSKGSKSQA	LAVYKAFTVD
130	140	150	160	170	180
SPVQQALWCD	FIISQDKSEK	AYSSNEVEKC	ICILQSSCIN	MHSIEGKDYI	ASLPFQVANV
190	200	210	220	230	240
WPTKYGLLFE	RSASSHEVPP	GSPREPLPTM	FSMLHPLDEI	TPLVCKSGSL	FGSSRVQYVV
250	260	270	280	290	300
DHAMKIVFLN	TDPSIVMTYD	AVQNVHSVWT	LRRVKSEEEN	VVLKFSEQGG	TPQNVATSSS
310	320	330	340	350	360
LTAHLRSLSK	GDSPVTSPFQ	NYSSIHSQSR	STSSPSLHSR	SPSISNMAAL	SRAHSPALGV
370	380	390	400	410	420
HSFSGVQRFN	ISSHNQSPKR	HSISHSPNSN	SNGSFLAPET	EPIVPELCID	HLWTETITNI
430	440	450	460	470	480
REKNSQASKV	FITSDLCGQK	FLCFLVESQL	QLRCVKFQES	NDKTQLIFGS	VTNIPAKDAA
490	500	510	520	530	540
PVEKIDTMLV	LEGSGNLVLY	TGVVRVGKVF	IPGLPAPSLT	MSNTMPRPST	PLDGVSTPKP
550	560	570	580	590	600
LSKLLGSLDE	VVLLSPVPEL	RDSSKLHDSL	YNEDCTFQQL	GTYIHSIRDP	VHNRVTLELS
610	620	630	640	650	660
NGSMVRITIP	EIATSELVQT	CLQAIKFILP	KEIAVQMLVK	WYNVHSAPGG	PSYHSEWNLF
670	680	690	700	710	720
VTCLMNMMGY	NTDRLAWTRN	FDFEGSLSPV	IAPKKARPSE	TGSDDDWEYL	LNSDYHQNVE
730	740	750	760	770	780
SHLLNRSLCL	SPSEASQMKD	EDFSQNLSLD	SSTLLFTHIP	AIFFVLHLVY	EELKLNTLMG
790	800	810	820	830	840
EGICSLVELL	VQLARDLKLG	PYVDHYYRDY	PTLVRTTGQV	CTIDPGQTGF	MHHPSFFTSE
850	860	870	880	890	900
PPSIYQWVSS	CLKGEGMPPY	PYLPGICERS	RLVVLSIALY	ILGDESLVSD	ESSQYLTRIT
910	920	930	940	950	960
IAPQKLQVEQ	EENRFSFRHS	TSVSSLAERL	VVWMTNVGFT	LRDLETLPFG	IALPIRDAIY
970	980	990	1000	1010	1020
HCREQPASDW	PEAVCLLIGR	QDLSKQACEG	NLPKGKSVLS	SDVPSGTETE	EEDDGMNDMN
1030	1040	1050	1060	1070	1080
HEVMSLIWSE	DLRVQDVRRL	LQSAHPVRVN	VVQYPELSDH	EFIEEKENRL	LQLCQRTMAL
1090	1100	1110	1120	1130	1140
PVGRGMFTLF	SYHPVPTEPL	PIPKLNLTGR	APPRNTTVDL	NSGNIDVPPN	MTSWASFHNG
1150	1160	1170	1180	1190	1200
VAAGLKIAPA	SQIDSAWIVY	NKPKHAELAN	EYAGFLMALG	LNGHLTKLAT	LNIHDYLTKG
1210	1220	1230	1240	1250	1260
HEMTSIGLLL	GVSAAKLGTM	DMSITRLLSI	HIPALLPPTS	TELDVPHNVQ	VAAVVGIGLV
1270	1280	1290	1300	1310	1320
YQGTAHRHTA	EVLLAEIGRP	PGPEMEYCTD	RESYSLAAGL	ALGMVCLGHG	SNLIGMSDLN
1330	1340	1350	1360	1370	1380
VPEQLYQYMV	GGHRRFQTGM	HREKHKSPSY	QIKEGDTINV	DVTCPGATLA	LAMIYLKTNN
1390	1400	1410	1420	1430	1440
RSIADWLRAP	DTMYLLDFVK	PEFLLLRTLA	RCLILWDDIL	PNSKWVDSNV	PQIIRENSIS
1450	1460	1470	1480	1490	1500
LSEIELPCSE	DLNLETLSQA	HVYIIAGACL	SLGFRFAGSE	NLSAFNCLHK	FAKDFMTYLS
1510	1520	1530	1540	1550	1560
APNASVTGPH	NLETCLSVVL	LSLAMVMAGS	GNLKVLQLCR	FLHMKTGGEM	NYGFHLAHHM
1570	1580	1590	1600	1610	1620
ALGLLFLGGG	RYSLSTSNSS	IAALLCALYP	HFPAHSTDNR	YHLQALRHLY	VLAAEPRLLV
1630	1640	1650	1660	1670	1680
PVDVDTNTPC	YALLEVTYKG	TQWYEQTKEE	LMAPTLLPEL	HLLKQIKVKG	PRYWELLIDL
1690	1700	1710	1720	1730	1740
SKGTQHLKSI	LSKDGVLYVK	LRAGQLSYKE	DPMGWQSLLA	QTVANRNSEA	RAFKPETISA
1750	1760	1770	1780	1790	1800
FTSDPALLSF	AEYFCKPTVN	MGQKQEILDL	FSSVLYECVT	QETPEMLPAY	IAMDQAIRRL
1810	1820	1830	1840	1850	1860
GRREMSETSE	LWQIKLVLEF	FSSRSHQERL	QNHPKRGLFM	NSEFLPVVKC	TIDNTLDQWL
1870	1880	1890	1900	1910	1920
QVGGDMCVHA	YLSGQPLEES	QLSMLACFLV	YHSVPAPQHL	PPIGLEGSTS	FAELLFKFKQ
1930	1940
LKMPVRALLR	LAPLLLGNPQ	PMVM