AiPD: Autoinhibited Protein Database

Q8IWV8

Gene name	UBR2 (C6orf133, KIAA0349)
Protein name	E3 ubiquitin-protein ligase UBR2
Names	EC 2.3.2.27 , N-recognin-2 , RING-type E3 ubiquitin transferase UBR2 , Ubiquitin-protein ligase E3-alpha-2 , Ubiquitin-protein ligase E3-alpha-II
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23304
EC number	2.3.2.27: Aminoacyltransferases
Protein Class

Descriptions

In Saccharomyces cerevisiae, RING domain-containing Ub ligase UBR1 recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation. Binding of dipeptides with destabilizing N-terminal residues to two substrate-binding sites of UBR1 causes dissociation of the C-terminal autoinhibitory domain of UBR1 from its N-terminal region that contains all three substrate-binding sites. This dissociation allows the interaction between UBR1 and CUP9, a transcriptional repressor of the peptide transporter PTR2, thereby accelerating the UBR1-dependent degradation of CUP9 and increasing the cell's capacity to import peptides. An aspect of autoinhibition characteristic of yeast UBR1 also is observed with mouse UBR1.

Autoinhibitory domains (AIDs)

1498-1755 (C-terminal fragment) SS

Target domain	1-1040 (N-terminal region containing three substrate-binding sites)
Relief mechanism	Ligand binding
Assay

AID

1498-1755 (C-terminal fragment)

Target domain

1-1040 (N-terminal region containing three substrate-binding sites)

Relief mechanism

Ligand binding (Binding of dipeptides with destabilizing N-terminal residues)

Assay

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

Du F et al. (2002) "Pairs of dipeptides synergistically activate the binding of substrate by ubiquitin ligase through dissociation of its autoinhibitory domain", Proceedings of the National Academy of Sciences of the United States of America, 99, 14110-5

Autoinhibited structure

Activated structure

7 structures for Q8IWV8

Entry ID	Method	Resolution	Chain	Position	Source
3NY2	X-ray	261 A	A/B/C/D/E/F/G/H	98-167	PDB
3NY3	X-ray	160 A	A	98-167	PDB
5TDA	X-ray	079 A	A	98-168	PDB
5TDB	X-ray	110 A	A	98-168	PDB
5TDD	X-ray	155 A	A	98-168	PDB
5UM3	X-ray	120 A	A	98-167	PDB
AF-Q8IWV8-F1	Predicted				AlphaFoldDB

1062 variants for Q8IWV8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA364355610 rs1318437730	3	S>A		No	ClinGen gnomAD
CA3806925 rs575726174	3	S>L		No	ClinGen 1000Genomes ExAC gnomAD
rs748574936 CA3806927	4	E>*		No	ClinGen ExAC gnomAD
rs1233015850 CA364355623	5	L>V		No	ClinGen TOPMed
CA364355637 rs1277640742	7	P>S		No	ClinGen gnomAD
CA3806929 rs148157364	8	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA364355648 rs1204601715	9	V>M		No	ClinGen gnomAD
CA3806930 rs747496721	11	A>T		No	ClinGen ExAC gnomAD
CA3806932 rs141950094	13	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA364355681 rs146664765	14	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA138404463 rs3749897	15	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA138404464 rs374585527	16	L>F		No	ClinGen ESP TOPMed gnomAD
CA364355697 rs1362521956	16	L>S		No	ClinGen TOPMed gnomAD
CA364355705 rs1158614151	18	E>K		No	ClinGen gnomAD
rs1324722956 CA364355748	23	E>D		No	ClinGen TOPMed gnomAD
CA138404468 rs954152095	23	E>K		No	ClinGen TOPMed
TCGA novel	25	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3806940 rs767462564 CA138404476	26	G>R		No	ClinGen ExAC gnomAD
CA138404480 rs767462564	26	G>W		No	ClinGen ExAC gnomAD
rs767414424 CA3806959	29	L>Q		No	ClinGen ExAC gnomAD
rs1386996741 CA364355834	34	L>H		No	ClinGen TOPMed
TCGA novel	34	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760543251 CA3806961	38	V>A		No	ClinGen ExAC TOPMed gnomAD
CA3806962 rs765901338	40	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1186577422 CA364355880	41	H>L		No	ClinGen gnomAD
rs753291880 CA3806963	41	H>Y		No	ClinGen ExAC gnomAD
rs139450403 CA138407967	43	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs147148792 CA3806964	43	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs139450403 CA3806965	43	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1372156450 CA364355897	44	H>R		No	ClinGen gnomAD
rs201171840 CA138407974	45	Y>C		No	ClinGen 1000Genomes
CA364355901 rs1223306995	45	Y>H		No	ClinGen TOPMed
CA3806969 rs746409490	46	V>I		No	ClinGen ExAC gnomAD
CA3806970 rs770375618	48	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1380068579 CA364355932	49	I>M		No	ClinGen gnomAD
rs1312341208 CA364355931	49	I>T		No	ClinGen TOPMed gnomAD
rs780332282 CA3806971	50	Y>H		No	ClinGen ExAC gnomAD
CA3806972 rs749357262	51	C>R		No	ClinGen ExAC TOPMed gnomAD
CA138407983 rs974875387	51	C>Y		No	ClinGen TOPMed
CA364355952 rs1228563410	52	R>S		No	ClinGen gnomAD
CA138407989 COSM1329680 rs923068120	53	G>S	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs774621498 CA3806974	55	N>S		No	ClinGen ExAC TOPMed gnomAD
rs540943211 CA138407999	62	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3806977 rs540943211	62	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759080429 CA3806981	73	M>T		No	ClinGen ExAC TOPMed gnomAD
rs148562323 CA3806980	73	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1042960342 CA138408012	74	E>D		No	ClinGen TOPMed gnomAD
CA364356114 rs1467606886	76	Y>H		No	ClinGen gnomAD
rs764853763 CA3806982	78	C>R		No	ClinGen ExAC gnomAD
CA364356138 rs1384498726	79	G>D		No	ClinGen gnomAD
CA3806984 rs757920556	80	E>D		No	ClinGen ExAC gnomAD
CA364356151 rs1562274900	81	D>A		No	ClinGen Ensembl
rs1562274900 CA364356152	81	D>G		No	ClinGen Ensembl
CA364356156 rs1369147038	82	P>A		No	ClinGen gnomAD
rs1302520707 CA364356164	83	A>G		No	ClinGen gnomAD
CA138408039 rs1014391153	83	A>P		No	ClinGen TOPMed gnomAD
CA364356161 rs1014391153	83	A>T		No	ClinGen TOPMed gnomAD
TCGA novel	83	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1314494263 CA364356177	85	G>E		No	ClinGen gnomAD
rs1212991370 CA364356183	86	F>S		No	ClinGen gnomAD
rs1490849132 CA364356182	86	F>V		No	ClinGen TOPMed
TCGA novel	90	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA138408050 rs1034160120	92	A>E		No	ClinGen TOPMed
CA3806986 rs750795870	92	A>T		No	ClinGen ExAC gnomAD
CA364356236 rs1287032278	94	K>Q		No	ClinGen TOPMed
rs1210285091 CA364356249	95	P>L		No	ClinGen gnomAD
rs1210285091 CA364356248	95	P>R		No	ClinGen gnomAD
rs1250760448 CA364356255	96	S>F		No	ClinGen gnomAD
rs149236559 CA3806987	97	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3806988 rs574156822	98	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA364356284 rs1417286282	101	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3806990 rs768797917	101	R>H		No	ClinGen ExAC TOPMed gnomAD
CA364356282 rs1417286282	101	R>S		No	ClinGen TOPMed gnomAD
CA364356298 rs1457839550	103	F>C		No	ClinGen gnomAD
rs778796266 CA3806992	104	K>*		No	ClinGen ExAC gnomAD
rs1309115245 CA364356312	105	V>A		No	ClinGen gnomAD
CA3806993 rs748437697	109	T>A		No	ClinGen ExAC gnomAD
rs1294525152 CA364356364	113	R>K		No	ClinGen gnomAD
rs1351673199 CA364356386	113	R>S		No	ClinGen gnomAD
rs766794979 CA3807014	114	D>E		No	ClinGen ExAC gnomAD
CA138412444 rs1056619457	115	C>G		No	ClinGen Ensembl
CA364356401 rs1226604406	116	A>T		No	ClinGen TOPMed
CA138412447 rs896667859	117	V>I		No	ClinGen TOPMed gnomAD
CA364356420 rs1228597903	119	P>T		No	ClinGen gnomAD
rs1171809193 CA364356428	120	T>A		No	ClinGen gnomAD
CA364356442 rs1291584320	122	V>I		No	ClinGen gnomAD
rs1305491206 CA364356447	123	L>V		No	ClinGen gnomAD
CA364356465 rs1275213373	125	M>T		No	ClinGen TOPMed gnomAD
rs1203584671 CA364356461	125	M>V		No	ClinGen TOPMed gnomAD
CA3807016 rs62414610	126	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs62414610 CA3807017	126	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA364356499 rs1402787631	130	G>R		No	ClinGen TOPMed
rs1255562398 CA364356518	132	I>S		No	ClinGen gnomAD
rs1314603897 CA364356522	133	H>Y		No	ClinGen TOPMed
rs777965219 CA3807020	135	D>G		No	ClinGen ExAC TOPMed gnomAD
CA3807019 rs148470130	135	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3807021 rs377008233	136	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs770725312 COSM1444563 CA3807022	137	R>Q	Variant assessed as Somatic; 4.858e-05 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA364356556 rs1582473442	138	Y>C		No	ClinGen Ensembl
rs754173243 CA138412802	141	T>A		No	ClinGen Ensembl
rs1298050333 CA364356593	141	T>R		No	ClinGen gnomAD
CA364356629 rs1367014897	147	G>V		No	ClinGen gnomAD
CA3807045 rs375367928	148	F>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	151	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA138412808 rs9381199	154	T>I		No	ClinGen Ensembl
CA3807049 rs768288745	159	E>A		No	ClinGen ExAC gnomAD
rs768288745 CA3807050	159	E>G		No	ClinGen ExAC gnomAD
rs868622883 CA138412814	161	P>S		No	ClinGen Ensembl
CA3807051 rs761585052	166	H>R		No	ClinGen ExAC gnomAD
CA364356777 rs1582478005	168	L>V		No	ClinGen Ensembl
CA364356782 rs1562292567	169	N>H		No	ClinGen Ensembl
CA138412820 rs755221180	170	T>A		No	ClinGen Ensembl
rs6905054 VAR_052117 CA3807053	172	E>D		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs771598586 CA3807052	172	E>K		No	ClinGen ExAC gnomAD
CA138412825 rs987682833	174	E>K		No	ClinGen Ensembl
CA3807055 rs529165970	175	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA364356834 rs1405244462	176	E>D		No	ClinGen TOPMed gnomAD
TCGA novel	180	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3807074 rs201992278	182	H>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs865790078 CA138414907	185	E>K		No	ClinGen TOPMed
rs1315042915 CA364357338	186	D>N		No	ClinGen TOPMed
CA3807076 rs760314944	189	A>T		No	ClinGen ExAC gnomAD
CA364357397 rs1306280957	190	R>K		No	ClinGen TOPMed
rs1240563624 CA824852927	192	Y>*		No	ClinGen TOPMed
rs765577824 CA138414912	193	N>K		No	ClinGen Ensembl
CA138414915 rs924055151	194	I>M		No	ClinGen TOPMed
rs1409250098 CA364357476	196	A>G		No	ClinGen gnomAD
CA364357482 rs1289116485	197	I>V		No	ClinGen gnomAD
CA3807078 rs775790637	198	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs140096365 CA3807080 COSM3430677 COSM3430676	200	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs763472946 CA3807079 COSM1231612	200	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA138414923 rs916254065	202	A>T		No	ClinGen TOPMed gnomAD
CA3807081 rs751705215 COSM324163	203	V>A	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA138414926 rs916702000	203	V>I		No	ClinGen TOPMed
rs757206043 CA138414930	206	L>F		No	ClinGen Ensembl
rs1271457638 CA364357621	208	W>C		No	ClinGen gnomAD
CA3807082 rs529742509	208	W>G		No	ClinGen 1000Genomes ExAC gnomAD
rs767400271 CA138414934	212	S>N		No	ClinGen gnomAD
CA364357664 rs1483039947	212	S>R		No	ClinGen gnomAD
CA3807085 rs200262422	215	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750616773 CA3807084	215	P>S		No	ClinGen ExAC gnomAD
rs1459212300 CA364357752	218	L>I		No	ClinGen gnomAD
rs1160526267 CA364357777	220	M>V		No	ClinGen TOPMed
rs143672999 CA3807086	221	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1369850302 CA364357785	221	V>L		No	ClinGen gnomAD
CA364358198 rs1582510263	224	S>G		No	ClinGen Ensembl
rs1412923255 CA364358200	224	S>N		No	ClinGen TOPMed
rs1582510263 CA364358197	224	S>R		No	ClinGen Ensembl
rs770567208 CA364358209	225	D>G		No	ClinGen ExAC TOPMed gnomAD
CA3807096 rs770567208	225	D>V		No	ClinGen ExAC TOPMed gnomAD
CA364358253 rs1481483258	231	L>Q		No	ClinGen TOPMed
rs1464577061 CA364358312	239	Y>C		No	ClinGen gnomAD
rs762315692 CA3807101	243	I>M		No	ClinGen ExAC gnomAD
TCGA novel	244	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1439516375 CA364358368	247	Q>R		No	ClinGen gnomAD
rs1175097312 CA364358386	250	V>I		No	ClinGen gnomAD
CA364358415 rs1229621183	254	Q>E		No	ClinGen gnomAD
rs1229621183 CA364358414	254	Q>K		No	ClinGen gnomAD
rs760858763 CA3807105	258	I>T		No	ClinGen ExAC gnomAD
CA364358477 rs1231861635	263	T>A		No	ClinGen gnomAD
rs1163384120 CA364358482	264	V>I		No	ClinGen TOPMed gnomAD
rs1163384120 CA364358483	264	V>L		No	ClinGen TOPMed gnomAD
CA3807107 rs370472321	266	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA364358506 rs1465139355	267	D>E		No	ClinGen gnomAD
CA3807110 rs752583497	267	D>H		No	ClinGen ExAC TOPMed gnomAD
CA364358500 rs752583497	267	D>N		No	ClinGen ExAC TOPMed gnomAD
CA3807129 rs759768133	268	G>V		No	ClinGen ExAC gnomAD
CA364358525 rs1488115048	269	R>C		No	ClinGen gnomAD
CA364358527 rs1425114693	269	R>H		No	ClinGen TOPMed
CA3807130 rs765157553	272	V>I		No	ClinGen ExAC
rs752489829 CA3807131	273	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA364358556 rs758317060	274	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA3807132 rs758317060	274	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA364358553 rs1434932970	274	Y>H		No	ClinGen gnomAD
CA3807133 rs764061601	276	D>H		No	ClinGen ExAC gnomAD
TCGA novel	276	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1457727667 CA364358647	287	I>L		No	ClinGen gnomAD
rs777454339 CA138415592	288	V>M		No	ClinGen gnomAD
CA364359254 rs1282015880	289	R>G		No	ClinGen gnomAD
CA3807147 rs747464306	290	N>S		No	ClinGen ExAC gnomAD
TCGA novel	294	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749011972 CA364359417	296	K>N		No	ClinGen TOPMed gnomAD
TCGA novel	297	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3807149 rs776815056	302	V>A		No	ClinGen ExAC TOPMed gnomAD
CA3807150 rs759861695	303	M>T		No	ClinGen ExAC gnomAD
rs770119982 CA3807151	305	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs201227063 CA3807152	307	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs926681071 CA138416898	308	V>I		No	ClinGen TOPMed
CA3807154 rs763737305	309	A>T		No	ClinGen ExAC gnomAD
rs751518855 CA3807155	309	A>V		No	ClinGen ExAC gnomAD
rs761696332 CA3807156	310	H>Q		No	ClinGen ExAC gnomAD
CA3807157 rs767034442	312	N>D		No	ClinGen ExAC
CA364359560 rs1168444161	318	L>S		No	ClinGen gnomAD
rs755799890 CA3807159	320	W>C		No	ClinGen ExAC TOPMed gnomAD
rs749909917 CA3807158	320	W>R		No	ClinGen ExAC gnomAD
CA364359597 rs1448384738	324	I>F		No	ClinGen gnomAD
CA364359601 rs1365397467	324	I>S		No	ClinGen Ensembl
CA3807160 rs779747963	327	Y>*		No	ClinGen ExAC gnomAD
rs1367255326 CA364359659	331	L>F		No	ClinGen gnomAD
CA364359660 rs1434303713	331	L>R		No	ClinGen gnomAD
CA3807177 rs145408774	332	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA3807178 rs142632674	332	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146847025 CA3807180	333	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs146847025 COSM1079326 CA3807181	333	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs765753135 CA3807179	333	R>W		No	ClinGen ExAC TOPMed gnomAD
CA364359674 rs1208475129	334	I>T		No	ClinGen gnomAD
CA3807183 rs751951621	336	C>G		No	ClinGen ExAC gnomAD
CA3807185 rs781763681	341	Q>R		No	ClinGen ExAC gnomAD
rs779956608 CA3807188	345	D>H		No	ClinGen ExAC TOPMed gnomAD
rs779956608 CA364359744	345	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1353621663 CA364359753	346	G>D		No	ClinGen gnomAD
rs749545129 CA3807189	346	G>S		No	ClinGen ExAC gnomAD
rs1310762019 CA364359774	349	S>P		No	ClinGen Ensembl
rs1221371624 CA364359783	350	S>F		No	ClinGen TOPMed
rs1338033984 CA364359797	353	D>N		No	ClinGen TOPMed
TCGA novel	354	R>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3807192 rs747929654	356	M>V		No	ClinGen ExAC gnomAD
CA364359824 rs1582541429	357	L>V		No	ClinGen Ensembl
rs1351026631 CA364359830	358	S>G		No	ClinGen Ensembl
rs1436319579 CA364359832	358	S>N		No	ClinGen TOPMed
CA364359850 rs1331642056	360	S>F		No	ClinGen gnomAD
rs201526792 CA138417665	361	K>R		No	ClinGen 1000Genomes
CA364359899 rs1582543693	365	G>V		No	ClinGen Ensembl
CA138417845 rs372178257	366	A>G		No	ClinGen ESP
rs375252418 CA3807217	368	S>G		No	ClinGen ESP ExAC gnomAD
CA3807218 rs147232836	369	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1440389553 CA364359961	374	F>L		No	ClinGen gnomAD
CA364359969 rs1245597449	375	M>I		No	ClinGen TOPMed
rs139226008 CA364359963	375	M>L		No	ClinGen ESP TOPMed gnomAD
CA364359966 rs1368757547	375	M>T		No	ClinGen gnomAD
rs139226008 CA138417854	375	M>V		No	ClinGen ESP TOPMed gnomAD
CA364360011 rs1286536544	381	D>G		No	ClinGen TOPMed
rs761281772 CA3807222	384	Y>C		No	ClinGen ExAC
CA3807223 rs766789700	387	L>P		No	ClinGen ExAC gnomAD
TCGA novel	387	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364360074 rs1298868441	390	V>D		No	ClinGen gnomAD
CA3807227 rs752952371	391	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA364360082 rs1582543946	392	F>L		No	ClinGen Ensembl
rs759999690 CA3807244	397	Q>R		No	ClinGen ExAC gnomAD
CA138150802 rs1005543011	399	L>F		No	ClinGen gnomAD
rs1328797494 CA364121091	404	M>T		No	ClinGen gnomAD
rs1231926101 CA364121105	405	E>A		No	ClinGen TOPMed gnomAD
rs79140595 CA364121161	408	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1325305909 CA364121167	409	E>K		No	ClinGen gnomAD
rs758662839 CA3807247	410	R>*		No	ClinGen ExAC TOPMed gnomAD
rs777854965 CA3807248	411	A>V		No	ClinGen ExAC gnomAD
CA364121231 CA3807250 rs757015626	414	V>L		No	ClinGen ExAC TOPMed gnomAD
CA364121230 rs757015626	414	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1431472683 CA364121257	416	A>S		No	ClinGen gnomAD
CA3807251 rs780975035	417	L>V		No	ClinGen ExAC gnomAD
rs373359192 CA3807253	420	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779749153 CA3807254	423	T>A		No	ClinGen ExAC gnomAD
rs543956612 CA3807257	424	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3807256 rs543956612	424	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3807259 rs200506490	425	P>R		No	ClinGen 1000Genomes ExAC gnomAD
CA3807258 rs761457735	425	P>S		No	ClinGen ExAC TOPMed gnomAD
rs986111784 CA138150887	426	T>I		No	ClinGen TOPMed
CA364121396 rs986111784	426	T>S		No	ClinGen TOPMed
CA3807260 rs777010133	427	L>P		No	ClinGen ExAC TOPMed gnomAD
rs747665207 CA3807310	429	R>P		No	ClinGen ExAC TOPMed gnomAD
rs747665207 CA3807311	429	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs770149016 CA3807314	432	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1243225000 CA364122316	433	T>A		No	ClinGen gnomAD
rs369485599 CA3807315	433	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs769174334 CA3807317	434	E>K		No	ClinGen ExAC gnomAD
CA138160634 rs939264314	435	E>D		No	ClinGen TOPMed
rs1178147743 CA364122341	436	N>K		No	ClinGen gnomAD
CA364122336 rs1480595652	436	N>Y		No	ClinGen gnomAD
CA364122348 rs5014584 CA364122347	437	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA364122355 rs1456526205	438	M>I		No	ClinGen TOPMed gnomAD
rs1562334337 CA364122350	438	M>V		No	ClinGen Ensembl
CA364122361 rs1474297497	439	S>N		No	ClinGen TOPMed
rs1318843150 CA364122394	443	K>N		No	ClinGen TOPMed gnomAD
rs1217589494 CA364122398	444	T>N		No	ClinGen TOPMed
CA3807319 rs761937951	445	F>L		No	ClinGen ExAC gnomAD
rs1432952275 CA364122412	446	M>T		No	ClinGen TOPMed gnomAD
CA364122430 rs1274916002	448	H>R		No	ClinGen gnomAD
CA138160668 rs1024856174	450	R>T		No	ClinGen TOPMed gnomAD
TCGA novel	454	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760934968 CA3807322	455	Q>R		No	ClinGen ExAC gnomAD
rs1327468080 CA364122489	457	R>K		No	ClinGen gnomAD
rs371117571 CA3807323	458	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1285545095 CA364122516	460	F>L		No	ClinGen gnomAD
CA3807324 rs753666783	461	E>V		No	ClinGen ExAC gnomAD
rs141153760 CA138160683	462	R>*		No	ClinGen ESP TOPMed gnomAD
rs373757140 CA3807325	462	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs747219265 CA3807327	466	L>V		No	ClinGen ExAC TOPMed gnomAD
CA138160688 rs969288596	467	Q>*		No	ClinGen Ensembl
CA3807328 rs553782837	467	Q>P		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	471	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1248163792 CA364122607	474	V>A		No	ClinGen gnomAD
CA364122614 rs1417541818	475	Q>R		No	ClinGen gnomAD
CA3807330 rs751244888	481	L>V		No	ClinGen ExAC gnomAD
CA364122683 rs1291719001	483	Y>C		No	ClinGen gnomAD
rs1490358516 CA364122701	486	I>V		No	ClinGen gnomAD
rs759366791 CA3807343	487	S>G		No	ClinGen ExAC gnomAD
rs764884230 CA3807344	488	K>T		No	ClinGen ExAC gnomAD
CA3807346 rs762761523	490	T>N		No	ClinGen ExAC gnomAD
TCGA novel	490	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs575746343 CA3807348	494	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3807347 rs139222400	494	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3807351 rs749985901	498	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs142649149 CA3807350	498	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	499	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1165609952 CA364122801	500	F>L		No	ClinGen gnomAD
rs1202997924 CA364122799	500	F>S		No	ClinGen TOPMed
CA3807352 rs755370685	501	L>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	502	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364122815 rs1390967718	503	G>R		No	ClinGen gnomAD
rs779102948 CA3807353	506	A>T		No	ClinGen ExAC gnomAD
TCGA novel	509	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1297907429 CA364122860	509	E>V		No	ClinGen gnomAD
TCGA novel	510	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3807355 rs758948458	514	M>V		No	ClinGen ExAC gnomAD
CA3807382 rs781092991	517	M>V		No	ClinGen ExAC TOPMed gnomAD
CA138162429 rs867787029 COSM742953	519	P>S	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1283549034 CA364122948	520	I>V		No	ClinGen gnomAD
rs1325367060 CA364122955	521	T>A		No	ClinGen gnomAD
CA3807383 rs746125994	521	T>R		No	ClinGen ExAC gnomAD
rs769886858 CA3807384	522	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA364122960 rs769886858	522	R>G		No	ClinGen ExAC TOPMed gnomAD
COSM1231614 CA3807385 rs775421046	522	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1205787158 CA364122975	524	V>A		No	ClinGen gnomAD
rs1402544668 CA364122977	525	G>R		No	ClinGen TOPMed
rs1198910861 CA364122996	527	H>R		No	ClinGen gnomAD
rs761694296 CA3807389	528	I>M		No	ClinGen ExAC gnomAD
rs1157444481 CA364123067	537	A>T		No	ClinGen gnomAD
CA138162509 rs951661465	538	F>C		No	ClinGen TOPMed gnomAD
CA138162506 rs1026329926	538	F>L		No	ClinGen TOPMed gnomAD
rs1291153039 CA364123091	541	Q>E		No	ClinGen gnomAD
CA3807393 rs765946648	542	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1490198248 CA364123131	546	H>R		No	ClinGen TOPMed
CA364123141 rs1225311569	548	I>L		No	ClinGen TOPMed
CA364123155 rs1221847109	550	M>V		No	ClinGen TOPMed gnomAD
CA138162555 rs1018606506	551	M>T		No	ClinGen TOPMed
rs764491075 CA3807396	553	D>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	555	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769519935 COSM1178670 CA138162573	558	D>H	prostate [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA138163663 rs145765824	563	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1079334 CA3807413 rs764575218	564	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA
CA364123277 rs1292684447	565	A>T		No	ClinGen gnomAD
TCGA novel	565	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751951573 CA3807414	566	Y>*		No	ClinGen ExAC
rs1323592947 CA364123296	567	K>N		No	ClinGen gnomAD
CA3807416 rs200955656	571	A>T		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs768207875 CA3807417	572	V>I		No	ClinGen ExAC gnomAD
rs768207875 CA138163706	572	V>L		No	ClinGen ExAC gnomAD
CA364123334 rs1186426387	574	M>V		No	ClinGen TOPMed gnomAD
CA364123343 rs1241820645	575	Q>E		No	ClinGen gnomAD
CA138163716 rs965424995	575	Q>R		No	ClinGen Ensembl
rs756153091 CA3807419	577	H>P		No	ClinGen ExAC
TCGA novel	577	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3807420 rs780141170	578	G>D		No	ClinGen ExAC gnomAD
CA364123372 rs1407735892	579	G>D		No	ClinGen gnomAD
CA364123380 rs1169262352	580	Y>C		No	ClinGen gnomAD
rs1463313337 CA364123394	582	D>G		No	ClinGen TOPMed gnomAD
CA364123389 rs1289528608	582	D>N		No	ClinGen TOPMed
rs1260202268 CA364123400	583	G>D		No	ClinGen gnomAD
CA364123409 rs1334513915	584	E>D		No	ClinGen gnomAD
CA364123427 rs1381945817	587	I>V		No	ClinGen gnomAD
CA3807422 rs189769442	589	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs778717950 CA3807423	591	I>T		No	ClinGen ExAC gnomAD
CA364123467 rs976812784	593	G>A		No	ClinGen gnomAD
CA138163747 rs976812784	593	G>E		No	ClinGen gnomAD
rs1364239164 CA364123470	594	H>D		No	ClinGen TOPMed
CA364123481 rs1295096028	595	S>*		No	ClinGen gnomAD
CA3807427 rs746900823	599	I>M		No	ClinGen ExAC gnomAD
CA3807426 rs777589024	599	I>V		No	ClinGen ExAC TOPMed gnomAD
CA364123508 rs1430809921	600	R>G		No	ClinGen TOPMed gnomAD
CA364123548 rs1171491033	605	Q>R		No	ClinGen gnomAD
TCGA novel	606	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364123560 rs1350162135	607	K>E		No	ClinGen TOPMed
TCGA novel	608	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3807428 rs770382783	609	S>R		No	ClinGen ExAC gnomAD
rs1166413607 CA364123607	614	V>I		No	ClinGen TOPMed
rs181358769 CA3807430	615	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1474124662 CA364123620	616	R>C		No	ClinGen TOPMed gnomAD
rs1185482536 CA364123621	616	R>H		No	ClinGen gnomAD
rs1562340786 CA364123633	618	L>F		No	ClinGen Ensembl
rs745368802 CA3807449	620	G>V		No	ClinGen ExAC TOPMed gnomAD
CA364123675 rs1301491935	623	V>I		No	ClinGen TOPMed gnomAD
rs769369327 CA3807450	626	S>N		No	ClinGen ExAC gnomAD
CA364123716 rs775285181	628	S>R		No	ClinGen ExAC gnomAD
CA364123733 rs754820721	631	A>S		No	ClinGen ExAC TOPMed gnomAD
rs754820721 CA3807452	631	A>T		No	ClinGen ExAC TOPMed gnomAD
CA364123741 rs1582617811	632	Y>C		No	ClinGen Ensembl
rs772345065 CA3807453	634	F>C		No	ClinGen ExAC
TCGA novel	635	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1223665193 CA364123768	636	E>K		No	ClinGen gnomAD
rs778709876 CA138165900	637	L>F		No	ClinGen Ensembl
rs1313023593 CA364123778	637	L>P		No	ClinGen gnomAD
CA3807485 rs777129534	644	S>G		No	ClinGen ExAC gnomAD
rs759999753 CA3807486	644	S>N		No	ClinGen ExAC gnomAD
CA364123844 rs1238674658	646	P>L		No	ClinGen TOPMed
CA3807488 rs765327719	648	L>M		No	ClinGen ExAC gnomAD
rs1239923487 CA364123877	651	H>N		No	ClinGen gnomAD
CA3807489 rs148521882	651	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA364123880 rs1195918041	651	H>R		No	ClinGen gnomAD
rs1354059497 CA364123889	652	P>L		No	ClinGen TOPMed
CA364123892 rs1182919818	653	L>F		No	ClinGen gnomAD
CA364123893 rs1399759371	653	L>R		No	ClinGen gnomAD
rs534407503 CA3807490	658	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1156245145 CA364123924	658	L>V		No	ClinGen gnomAD
CA364123932 rs1394662154	659	C>Y		No	ClinGen gnomAD
CA364123950 rs1409732968	662	V>L		No	ClinGen gnomAD
COSM316339 CA364123968 rs1245883209	664	A>V	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA3807491 rs751370444	665	G>R		No	ClinGen ExAC TOPMed gnomAD
rs761703653 CA3807492	666	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1451173090 CA364124000	669	R>K		No	ClinGen gnomAD
TCGA novel	669	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1314939107 CA364124007	670	N>D		No	ClinGen gnomAD
rs1325187821 CA364124013	671	G>R		No	ClinGen gnomAD
CA3807493 rs767380259	672	F>L		No	ClinGen ExAC gnomAD
TCGA novel	674	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364124033 rs1246302646	674	L>V		No	ClinGen TOPMed gnomAD
CA364124039 rs1268068073	675	V>I		No	ClinGen gnomAD
rs1303924647 CA364124043	676	N>H		No	ClinGen gnomAD
rs1203313694 CA364124073	678	I>F		No	ClinGen gnomAD
CA364124076 rs775501192	678	I>M		No	ClinGen ExAC TOPMed gnomAD
rs367666230 CA138167184	678	I>T		No	ClinGen ESP gnomAD
rs1194705297 CA364124082	679	Y>F		No	ClinGen gnomAD
TCGA novel	679	Y>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763076397 CA3807512	680	Y>F		No	ClinGen ExAC gnomAD
CA138167201 rs928767184	681	Y>C		No	ClinGen Ensembl
CA3807513 rs768563438	682	H>R		No	ClinGen ExAC gnomAD
CA364124110 rs1378722565	683	N>S		No	ClinGen gnomAD
rs1480996180 CA364124114	684	V>M		No	ClinGen TOPMed
rs200703864 CA3807514	688	R>C		No	ClinGen ExAC TOPMed gnomAD
CA3807515 rs762077600	688	R>H		No	ClinGen ExAC gnomAD
TCGA novel	689	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867892323 CA138167234	692	D>E		No	ClinGen Ensembl
CA3807517 rs750211615	695	V>I		No	ClinGen ExAC gnomAD
TCGA novel	696	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364124202 rs1404118949	696	V>L		No	ClinGen gnomAD
CA364124214 rs1313730282	697	M>I		No	ClinGen gnomAD
rs762165844 CA3807542	700	T>K		No	ClinGen ExAC TOPMed gnomAD
CA364124242 rs1375824828	700	T>S		No	ClinGen gnomAD
TCGA novel	701	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1229040411 CA364124264	704	M>V		No	ClinGen TOPMed gnomAD
rs1222086226 CA364124280	705	M>I		No	ClinGen gnomAD
rs773195242 CA3807544	706	D>G		No	ClinGen ExAC gnomAD
rs1292753655 CA364124312	710	F>I		No	ClinGen gnomAD
TCGA novel	710	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364124331 rs1175795389	712	M>I		No	ClinGen gnomAD
CA364124333 rs1250445712	713	I>V		No	ClinGen TOPMed gnomAD
rs1440923761 CA364124340	714	M>V		No	ClinGen TOPMed gnomAD
CA364124355 rs1412452673	716	S>G		No	ClinGen TOPMed
rs924846559 CA138168401	717	R>C		No	ClinGen TOPMed gnomAD
rs766020481 CA3807546	717	R>H		No	ClinGen ExAC gnomAD
rs866160219 CA138168408	718	F>L		No	ClinGen Ensembl
CA3807547 rs201243495	723	I>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA364124419 rs1351210964	725	S>G		No	ClinGen gnomAD
rs759344895 COSM229727 CA3807548	725	S>N	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs764852145 CA3807549	727	P>S		No	ClinGen ExAC TOPMed gnomAD
CA138168433 rs34284300	732	R>I		No	ClinGen TOPMed
rs1222024860 CA364124528	740	K>N		No	ClinGen TOPMed
CA3807569 rs763530191	742	V>I		No	ClinGen ExAC TOPMed gnomAD
rs751232457 CA364124561	744	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs751232457 CA3807570	744	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA364124581 rs1238759240	746	N>K		No	ClinGen gnomAD
rs993931543 CA138168661	746	N>S		No	ClinGen TOPMed gnomAD
CA3807571 rs756833707	747	N>D		No	ClinGen ExAC gnomAD
CA364124586 rs1407953678	747	N>S		No	ClinGen gnomAD
CA364124593 rs1192532281	748	T>S		No	ClinGen gnomAD
TCGA novel	754	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	756	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1416389959 CA364124685	761	V>A		No	ClinGen TOPMed
rs1173910891 CA364124683	761	V>F		No	ClinGen gnomAD
rs754144193 CA3807573	762	G>*		No	ClinGen ExAC gnomAD
rs761590207 CA364124715	764	R>K		No	ClinGen ExAC gnomAD
rs761590207 CA3807589	764	R>T		No	ClinGen ExAC gnomAD
rs767058792 CA3807590	767	P>S		No	ClinGen ExAC TOPMed gnomAD
rs759822938 CA3807592	771	Q>K		No	ClinGen ExAC gnomAD
rs765655910 CA3807593	773	N>D		No	ClinGen ExAC gnomAD
rs767342164 CA138169310	775	T>I		No	ClinGen Ensembl
rs753277687 CA3807594	776	D>H		No	ClinGen ExAC gnomAD
rs1318432147 CA364124802	777	E>D		No	ClinGen TOPMed
rs765593609 CA3807595	780	R>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	782	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364124861 rs1275562561	786	L>V		No	ClinGen gnomAD
CA138169354 rs151033437	790	P>L		No	ClinGen ESP TOPMed
rs1039072020 CA138169359	791	M>V		No	ClinGen TOPMed gnomAD
CA3807598 rs757557248	792	A>V		No	ClinGen ExAC gnomAD
rs1238791440 CA364124909	793	H>Y		No	ClinGen gnomAD
rs1219850886 CA364124962	800	L>S		No	ClinGen gnomAD
TCGA novel	801	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1239889321 CA364125013	805	N>I		No	ClinGen gnomAD
rs1185435908 CA364125036	808	T>I		No	ClinGen gnomAD
CA3807614 rs201169230	810	M>V		No	ClinGen ExAC gnomAD
rs115685369 CA3807615	812	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3807616 rs781295477	813	V>L		No	ClinGen ExAC gnomAD
CA3807618 rs578045798	815	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA3807620 rs749065769	817	V>A		No	ClinGen ExAC TOPMed gnomAD
rs768378018 CA3807621	818	A>T		No	ClinGen ExAC gnomAD
rs970514593 CA138171059	819	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3807622 rs778720546	821	K>R		No	ClinGen ExAC TOPMed gnomAD
rs746505467 CA3807644	822	K>N		No	ClinGen ExAC gnomAD
rs776431356 CA3807645	825	L>I		No	ClinGen ExAC TOPMed gnomAD
CA3807646 rs745482391	826	T>A		No	ClinGen ExAC gnomAD
CA3807647 rs369521301	828	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs774758430 CA3807648	828	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA364125188 rs1378669225	830	M>I		No	ClinGen gnomAD
CA364125182 rs1277686837	830	M>V		No	ClinGen gnomAD
CA364125193 rs1349637931	831	Y>S		No	ClinGen gnomAD
rs191660936 CA3807650	834	K>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA364125236 rs1263086056	837	C>F		No	ClinGen TOPMed
rs139889031 CA3807651	837	C>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA138175809 rs986018066	839	K>R		No	ClinGen TOPMed
CA364125252 rs1419990923	840	E>K		No	ClinGen gnomAD
CA3807652 rs760745486	844	Y>C		No	ClinGen ExAC gnomAD
rs766406281 CA3807653	846	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	846	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755202968 CA3807655	849	S>P		No	ClinGen ExAC gnomAD
rs1332692355 CA364125331	850	R>S		No	ClinGen gnomAD
TCGA novel	853	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1390040912 CA364125399	858	E>A		No	ClinGen gnomAD
rs751573844 CA3807681	859	A>P		No	ClinGen ExAC gnomAD
CA3807682 rs757241280	859	A>V		No	ClinGen ExAC TOPMed gnomAD
rs376113044 CA3807685	861	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3807684 rs749931973	861	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs779757707 CA3807686	864	K>R		No	ClinGen ExAC TOPMed gnomAD
CA364125479 rs748849434	870	D>N		No	ClinGen ExAC TOPMed gnomAD
CA3807688 rs748849434	870	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1582649620 CA364125491	871	T>I		No	ClinGen Ensembl
CA364125509 rs1278035392	872	A>V		No	ClinGen gnomAD
CA3807706 rs200837255	874	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200837255 CA364125516	874	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA364125523 rs1311127971	875	P>S		No	ClinGen gnomAD
rs754591447 CA3807707	876	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1158133190 CA364125532	877	V>M		No	ClinGen TOPMed
rs1263689681 CA364125547	879	P>S		No	ClinGen gnomAD
TCGA novel	882	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA138178041 rs75635618	889	V>A		No	ClinGen 1000Genomes
rs535570214 CA3807714	895	D>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1197837056 CA364125661	896	V>I		No	ClinGen TOPMed
CA3807716 rs768999132	897	M>I		No	ClinGen ExAC gnomAD
rs749567456 CA3807715	897	M>T		No	ClinGen ExAC gnomAD
CA3807717 rs774654956	898	L>F		No	ClinGen ExAC TOPMed gnomAD
CA3807718 rs761703553	899	C>Y		No	ClinGen ExAC gnomAD
CA3807719 rs150443989	901	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1030092844 CA138178078	909	V>L		No	ClinGen gnomAD
TCGA novel	910	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765953412 CA3807722	910	E>Q		No	ClinGen ExAC gnomAD
CA364125761 rs1281694313	911	H>P		No	ClinGen TOPMed
CA3807723 rs753282282	911	H>Y		No	ClinGen ExAC
rs1453517476 CA364125784	914	Y>C		No	ClinGen gnomAD
rs867495258 CA138178107	915	A>V		No	ClinGen Ensembl
CA3807724 COSM3830535 rs754681331	917	S>L	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA364125824 rs1350828918	920	M>K		No	ClinGen gnomAD
CA364125822 rs1204048108	920	M>V		No	ClinGen TOPMed
rs867866972 CA138178116	923	R>K		No	ClinGen TOPMed gnomAD
rs867866972 CA364125846	923	R>M		No	ClinGen TOPMed gnomAD
TCGA novel	927	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3807742 rs764688689	928	I>V		No	ClinGen ExAC gnomAD
rs752370038 CA3807743	931	A>T		No	ClinGen ExAC gnomAD
CA3807744 rs762574743	936	K>N		No	ClinGen ExAC TOPMed gnomAD
CA364125966 rs1233518985	938	H>Q		No	ClinGen TOPMed gnomAD
TCGA novel	940	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3807745 rs767968002	941	N>I		No	ClinGen ExAC gnomAD
CA3807746 rs750752736	942	V>D		No	ClinGen ExAC gnomAD
CA3807748 rs780426733	943	T>M		No	ClinGen ExAC TOPMed gnomAD
rs754352995 CA3807749	944	E>K		No	ClinGen ExAC gnomAD
CA3807751 rs779110141	946	H>Q		No	ClinGen ExAC
rs755128721 CA3807750	946	H>R		No	ClinGen ExAC gnomAD
CA3807754 rs777681637	952	F>L		No	ClinGen ExAC gnomAD
rs1158288000 CA364126069	954	Q>R		No	ClinGen TOPMed
CA3807755 rs746793129	958	K>E		No	ClinGen ExAC gnomAD
CA3807773 rs777863222	959	P>A		No	ClinGen ExAC gnomAD
rs1173261993 CA364126124	961	E>K		No	ClinGen TOPMed
rs747215709 CA3807774	962	A>V		No	ClinGen ExAC TOPMed gnomAD
CA3807776 rs780944898	964	K>E		No	ClinGen ExAC gnomAD
rs939501493 CA138181299	964	K>N		No	ClinGen TOPMed
CA364126162 rs1485791970	966	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3807778 rs745849060	967	P>L		No	ClinGen ExAC TOPMed gnomAD
CA364126165 rs1257590432	967	P>S		No	ClinGen TOPMed
COSM742950 rs138557643 CA3807779	969	I>M	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA364126192 rs1562368051	971	A>V		No	ClinGen Ensembl
CA3807783 rs768168632	972	M>L		No	ClinGen ExAC TOPMed gnomAD
rs768168632 CA138181345	972	M>V		No	ClinGen ExAC TOPMed gnomAD
rs910106292 CA138181349	975	T>A		No	ClinGen Ensembl
rs1359695308 CA364126224	977	Q>E		No	ClinGen gnomAD
CA138181371 rs994182728	979	A>D		No	ClinGen TOPMed gnomAD
CA364126243 rs994182728	979	A>V		No	ClinGen TOPMed gnomAD
rs1582664871 CA364126248	980	P>L		No	ClinGen Ensembl
rs1297652966 CA364126254	981	Y>C		No	ClinGen gnomAD
CA364126265 rs1232432638	983	E>*		No	ClinGen gnomAD
CA3807786 rs766691559	986	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1562368212 CA364126288	986	K>R		No	ClinGen Ensembl
CA3807789 rs765852315	988	M>I		No	ClinGen ExAC gnomAD
CA3807788 rs760176522	988	M>K		No	ClinGen ExAC gnomAD
rs777130264 CA3807787	988	M>V		No	ClinGen ExAC TOPMed gnomAD
rs753187944 CA3807790	990	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA138181398 rs369490670	990	R>W		No	ClinGen ESP gnomAD
rs758440034 CA3807791	993	L>V		No	ClinGen ExAC gnomAD
CA364126360 rs1308085086	995	T>S		No	ClinGen gnomAD
rs200458609 CA3807815	997	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200458609 CA364126375	997	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA138181505 rs1042891567	999	V>I		No	ClinGen Ensembl
rs757480628 CA3807816	1002	M>V		No	ClinGen ExAC gnomAD
CA364126415 rs1160396821	1003	R>W		No	ClinGen TOPMed
rs1372670123 CA364126431	1005	S>C		No	ClinGen TOPMed gnomAD
CA364126433 rs765100741	1005	S>I		No	ClinGen gnomAD
rs765100741 CA138181511	1005	S>N		No	ClinGen gnomAD
rs1339095886 CA364126444	1007	P>S		No	ClinGen gnomAD
CA364126452 rs1314711192	1008	T>I		No	ClinGen gnomAD
rs573327030 CA3807818	1009	S>N		No	ClinGen ExAC TOPMed gnomAD
CA3807819 rs143463594	1009	S>R		No	ClinGen ESP ExAC TOPMed
rs147976047 CA3807820	1011	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147976047 CA3807821	1011	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747705416 CA3807824	1018	I>T		No	ClinGen ExAC gnomAD
CA3807823 rs778344334	1018	I>V		No	ClinGen ExAC gnomAD
rs1423037175 CA364126520	1019	M>I		No	ClinGen gnomAD
rs373678527 CA3807825	1019	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1582665758 CA364126525	1020	E>Q		No	ClinGen Ensembl
rs756920996 CA3807840	1022	S>G		No	ClinGen ExAC TOPMed gnomAD
CA3807841 rs778913383	1023	S>T		No	ClinGen ExAC gnomAD
rs752536633 CA3807842	1024	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1192857815 CA364126564	1024	R>K		No	ClinGen gnomAD
rs1284204710 CA364126572	1025	D>G		No	ClinGen TOPMed
CA364126569 rs762350996	1025	D>N		No	ClinGen gnomAD
rs762350996 CA138181727	1025	D>Y		No	ClinGen gnomAD
rs758005554 CA3807843	1029	A>G		No	ClinGen ExAC TOPMed gnomAD
CA364126649 rs1313673004	1036	E>K		No	ClinGen gnomAD
rs1377677873 CA364126657	1037	I>L		No	ClinGen gnomAD
CA138181745 rs904347706	1038	A>S		No	ClinGen Ensembl
rs1363359926 CA364126683	1041	R>C		No	ClinGen gnomAD
rs767171830 CA3807846	1041	R>H		No	ClinGen ExAC TOPMed gnomAD
CA138181757 rs370854350	1045	I>M		No	ClinGen ESP TOPMed
CA364126720 CA364126722 rs1281957242	1046	M>I		No	ClinGen gnomAD
CA3807848 rs749680750	1046	M>V		No	ClinGen ExAC TOPMed gnomAD
rs768839503 CA3807849	1049	M>I		No	ClinGen ExAC gnomAD
COSM1079338 rs773272485 CA3807853	1054	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs373974722 CA3807852	1054	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA364126799 rs1189373853	1057	I>T		No	ClinGen gnomAD
CA364126809 rs367826875	1058	D>E		No	ClinGen ESP ExAC gnomAD
rs1431218379 CA364126827	1061	K>E		No	ClinGen gnomAD
rs1438435160 CA364126844	1063	L>F		No	ClinGen TOPMed
CA3807856 rs753940529	1066	Q>H		No	ClinGen ExAC gnomAD
rs1158916441 CA364126895	1070	L>P		No	ClinGen gnomAD
CA3807857 rs759405860	1071	D>G		No	ClinGen ExAC TOPMed gnomAD
rs530102127 CA3807858	1072	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA364126914 rs1369638097	1073	S>L		No	ClinGen gnomAD
rs758380045 CA3807860	1074	T>A		No	ClinGen ExAC gnomAD
rs1179768557 CA364126946	1079	D>Y		No	ClinGen TOPMed
CA364126952 rs1168906853	1080	H>N		No	ClinGen gnomAD
CA364126958 rs1374492962	1080	H>Q		No	ClinGen TOPMed gnomAD
rs1432257217 CA364126965	1081	S>N		No	ClinGen TOPMed gnomAD
CA364126976 rs1275171914	1081	S>R		No	ClinGen gnomAD
CA364126980 rs1436116541	1082	P>S		No	ClinGen gnomAD
rs1181384596 CA364126986	1083	V>M		No	ClinGen gnomAD
TCGA novel	1085	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs370173010 CA3807886	1086	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs765122143 CA3807887	1087	M>T		No	ClinGen ExAC gnomAD
CA138182727 rs886476931	1087	M>V		No	ClinGen TOPMed gnomAD
CA364127017 rs1417575705	1088	T>A		No	ClinGen gnomAD
CA364127024 rs1167692338	1089	L>F		No	ClinGen TOPMed gnomAD
rs775422200 CA3807888	1089	L>R		No	ClinGen ExAC gnomAD
CA364127023 rs1167692338	1089	L>V		No	ClinGen TOPMed gnomAD
CA3807890 rs764143663	1090	T>I		No	ClinGen ExAC TOPMed gnomAD
rs764143663 CA3807891	1090	T>K		No	ClinGen ExAC TOPMed gnomAD
rs62414652 CA138182814	1094	P>H		No	ClinGen Ensembl
VAR_059816 rs6917033 CA138182848	1095	A>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA138182843 rs6917033 VAR_059817	1095	A>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_023283 rs6917033 CA3807896	1095	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs865930419 CA138182858	1096	Q>K		No	ClinGen Ensembl
CA364127068 rs1195232446	1097	T>I		No	ClinGen gnomAD
TCGA novel	1098	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3807899 rs778282696	1099	V>I		No	ClinGen ExAC TOPMed gnomAD
rs747465280 CA3807900	1100	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs930008852 CA138182905	1101	E>A		No	ClinGen Ensembl
rs771092273 CA3807901	1101	E>K		No	ClinGen ExAC gnomAD
rs776542776 CA3807902	1104	Q>K		No	ClinGen ExAC gnomAD
CA3807903 rs746169029	1105	F>S		No	ClinGen ExAC gnomAD
rs147922807 CA3807905	1106	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA364127130 rs1421000186	1107	T>I		No	ClinGen gnomAD
CA364127129 rs1156690754	1107	T>S		No	ClinGen TOPMed
CA3807907 rs763943768	1108	C>S		No	ClinGen ExAC gnomAD
rs1311862013 CA364127146	1109	I>M		No	ClinGen gnomAD
rs1364089645 CA364127172	1113	E>*		No	ClinGen TOPMed
rs904042177 CA138182932	1115	Q>R		No	ClinGen gnomAD
rs1562371813 CA364127219	1119	V>A		No	ClinGen Ensembl
CA364127230 rs1479569014	1121	S>G		No	ClinGen TOPMed
CA3807908 rs774456672	1123	A>T		No	ClinGen ExAC
TCGA novel	1129	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364127294 rs1228045917	1130	V>G		No	ClinGen gnomAD
CA3807909 rs761637984	1130	V>I		No	ClinGen ExAC gnomAD
TCGA novel	1134	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364127326 rs1279820056	1135	V>E		No	ClinGen gnomAD
CA364127332 rs1205001738	1136	L>S		No	ClinGen TOPMed
rs1486206603 CA364127338	1137	S>P		No	ClinGen gnomAD
CA138182964 rs761566691	1138	K>T		No	ClinGen Ensembl
CA364127361 rs1260072743	1140	R>I		No	ClinGen gnomAD
CA364127362 rs1446984473	1140	R>S		No	ClinGen gnomAD
rs766021901 CA3807913	1141	S>R		No	ClinGen ExAC gnomAD
rs1562372009 CA364127379	1143	F>V		No	ClinGen Ensembl
rs1451983448 CA364127402	1146	D>N		No	ClinGen gnomAD
rs1172644229 CA364127411	1147	P>A		No	ClinGen TOPMed gnomAD
rs1395237129 CA364127414	1147	P>L		No	ClinGen TOPMed gnomAD
rs995390029 CA138184909	1149	K>N		No	ClinGen TOPMed gnomAD
rs1335563255 CA364127451	1151	D>N		No	ClinGen gnomAD
rs760132097 CA3807936	1151	D>V		No	ClinGen ExAC gnomAD
CA364127482 rs1333405048	1155	M>K		No	ClinGen gnomAD
rs1333405048 CA364127483	1155	M>T		No	ClinGen gnomAD
CA364127494 rs1273310437	1156	H>Q		No	ClinGen gnomAD
rs1274831780 CA364127492	1156	H>R		No	ClinGen TOPMed
rs1370461681 CA364127504	1158	D>Y		No	ClinGen gnomAD
rs377264519 CA3807939	1163	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3807940 rs759157491	1165	T>S		No	ClinGen ExAC gnomAD
CA364127557 rs1183796153	1166	S>T		No	ClinGen TOPMed gnomAD
CA3807942 rs751857875	1171	I>V		No	ClinGen ExAC gnomAD
TCGA novel	1172	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3807943 rs757585624	1174	A>V		No	ClinGen ExAC gnomAD
TCGA novel	1177	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1582681507 CA364127673	1180	Y>D		No	ClinGen Ensembl
CA138185616 rs932146512	1182	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA3807960 rs150004894	1184	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs764873091 CA3807961	1187	K>E		No	ClinGen ExAC gnomAD
CA138185642 rs965988013	1188	E>Q		No	ClinGen TOPMed
TCGA novel	1190	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752334672 CA3807962	1190	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs767880366 CA3807964	1193	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA3807965 rs767880366	1193	Q>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1194	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756663218 CA3807966	1196	R>H		No	ClinGen ExAC TOPMed gnomAD
CA364127780 rs1346892496	1196	R>S		No	ClinGen gnomAD
CA3807967 rs780352647	1197	L>F		No	ClinGen ExAC gnomAD
rs370770022 CA3807968	1198	H>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs867887184 COSM380638 CA138185656	1198	H>R	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs148417150 CA3807970	1199	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148417150 CA3807969	1199	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3807972 rs373511386	1200	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA364127812 rs1393427693	1201	Y>C		No	ClinGen TOPMed gnomAD
CA364127809 rs1170729559	1201	Y>H		No	ClinGen gnomAD
rs777603875 CA3807973	1202	D>V		No	ClinGen ExAC gnomAD
CA364127823 rs1416493602	1203	V>I		No	ClinGen TOPMed
rs1021948059 CA138185675	1206	G>R		No	ClinGen TOPMed
CA364127917 rs1192635286	1216	L>V		No	ClinGen TOPMed gnomAD
rs367647856 CA138185691	1217	S>G		No	ClinGen ESP TOPMed gnomAD
CA364127930 rs1436566364	1218	N>D		No	ClinGen gnomAD
rs1425242705 CA364127940	1219	T>P		No	ClinGen gnomAD
CA364127946 rs1300625220	1220	V>F		No	ClinGen gnomAD
CA3807977 rs745393900	1221	I>T		No	ClinGen ExAC gnomAD
rs1167382214 CA364127978	1226	P>S		No	ClinGen Ensembl
CA364127992 rs1280516673	1228	R>K		No	ClinGen TOPMed gnomAD
TCGA novel	1228	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364128002 rs1314867310	1229	N>S		No	ClinGen gnomAD
CA3807979 rs775034579	1230	I>T		No	ClinGen ExAC gnomAD
rs1417942610 CA364128028	1233	N>D		No	ClinGen TOPMed gnomAD
rs1562378782 CA364128048	1234	R>W		No	ClinGen Ensembl
rs1271382510 CA364128062	1236	N>D		No	ClinGen gnomAD
rs756987225 CA3807996	1236	N>K		No	ClinGen ExAC TOPMed gnomAD
CA3807995 rs746811091	1236	N>S		No	ClinGen ExAC TOPMed gnomAD
rs746811091 CA138186645	1236	N>T		No	ClinGen ExAC TOPMed gnomAD
CA364128068 rs1352080950	1237	F>V		No	ClinGen TOPMed
rs1157374718 CA364128075	1238	S>P		No	ClinGen TOPMed
rs1248607834 CA364128085	1239	D>V		No	ClinGen gnomAD
CA364128089 rs1468796688	1240	Q>E		No	ClinGen TOPMed gnomAD
rs781128753 CA3807997	1243	L>Q		No	ClinGen ExAC gnomAD
rs1053167010 CA138186653	1245	Q>R		No	ClinGen gnomAD
rs1473878417 CA364128133	1246	W>*		No	ClinGen gnomAD
rs144580439 CA138186660	1248	R>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs144580439 CA3807999	1248	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA3808001 rs748947565	1249	T>I		No	ClinGen ExAC gnomAD
CA364128162 rs1441057164	1251	S>A		No	ClinGen TOPMed
rs1190082281 CA364128177	1253	Q>P		No	ClinGen TOPMed
rs774092520 CA3808003	1254	I>M		No	ClinGen ExAC gnomAD
CA364128196 rs1352056154	1256	A>T		No	ClinGen gnomAD
rs1014779696 CA138186664	1256	A>V		No	ClinGen TOPMed gnomAD
CA364128215 rs1334265902	1258	Q>H		No	ClinGen gnomAD
CA364128230 rs1267084171	1261	R>G		No	ClinGen TOPMed
rs1017467244 CA138186665	1262	K>R		No	ClinGen TOPMed gnomAD
rs761145894 CA3808004	1266	T>I		No	ClinGen ExAC
rs777124232 CA3808023	1268	N>S		No	ClinGen ExAC TOPMed gnomAD
CA3808024 rs777124232	1268	N>T		No	ClinGen ExAC TOPMed gnomAD
rs770338394 CA3808025	1270	A>T		No	ClinGen ExAC TOPMed gnomAD
CA138187103 rs1017332256	1271	S>A		No	ClinGen gnomAD
CA364128314 rs1353994697	1271	S>F		No	ClinGen TOPMed
rs964799716 CA138187108	1274	N>I		No	ClinGen TOPMed gnomAD
TCGA novel	1282	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3808029 rs572608478	1285	E>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1224256444 CA364128440	1287	F>S		No	ClinGen TOPMed gnomAD
rs751817396 CA3808030	1287	F>V		No	ClinGen ExAC gnomAD
rs1275418330 CA364128465	1290	D>N		No	ClinGen TOPMed
COSM188484 CA3808032 rs376653677	1292	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
COSM1621662 CA3808033 rs141857405	1292	R>H	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA364128502 rs1562380179	1294	K>E		No	ClinGen Ensembl
CA3808045 rs555549990	1296	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA3808046 rs555549990	1296	P>S	Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA3808048 rs774398485	1300	S>N		No	ClinGen ExAC gnomAD
CA364128667 rs1165262188	1301	I>V		No	ClinGen gnomAD
rs1350641702 CA364128673	1302	K>E		No	ClinGen TOPMed gnomAD
CA3808049 rs762084673	1303	E>A		No	ClinGen ExAC gnomAD
CA364128690 rs1350646348	1304	M>K		No	ClinGen gnomAD
CA3808050 rs376138925	1306	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs376138925 CA3808051	1306	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs766059507 CA3808053	1310	T>P		No	ClinGen ExAC gnomAD
rs1212701293 CA364128734	1311	A>G		No	ClinGen TOPMed gnomAD
rs1212701293 CA364128735	1311	A>V		No	ClinGen TOPMed gnomAD
rs1434542355 CA364128737	1312	T>A		No	ClinGen TOPMed gnomAD
CA364128738 rs1434542355	1312	T>P		No	ClinGen TOPMed gnomAD
rs1212265050 CA364128743	1313	Y>H		No	ClinGen TOPMed
CA3808057 rs752259969	1315	V>M		No	ClinGen ExAC TOPMed gnomAD
CA3808058 rs757924073	1320	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1582698845 CA364128798	1321	P>H		No	ClinGen Ensembl
rs1352480528 CA364128797	1321	P>S		No	ClinGen gnomAD
CA3808062 rs780257067	1322	N>K		No	ClinGen ExAC TOPMed gnomAD
CA3808061 rs756541059	1322	N>S		No	ClinGen ExAC TOPMed gnomAD
rs769143065 CA3808064	1327	R>C		No	ClinGen ExAC TOPMed gnomAD
CA364128840 rs1350207486	1327	R>H		No	ClinGen TOPMed gnomAD
rs774770022 CA3808065	1328	V>L		No	ClinGen ExAC gnomAD
CA138189262 rs936559151	1330	I>V		No	ClinGen TOPMed
rs772104954 CA3808067	1331	M>I		No	ClinGen ExAC gnomAD
rs1290696726 CA364128861	1331	M>L		No	ClinGen gnomAD
CA3808066 rs748252480	1331	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1265503240 CA364128875 COSM484079	1333	W>R	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
CA364128878 rs1489287608	1333	W>S		No	ClinGen gnomAD
rs113485763 CA138189274	1334	G>S		No	ClinGen Ensembl
CA3808069 rs760789105	1337	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1415671133 CA364128951	1343	I>M		No	ClinGen gnomAD
rs990831567 CA138189287	1343	I>T		No	ClinGen TOPMed
rs775608192 CA3808093	1348	S>N		No	ClinGen ExAC TOPMed gnomAD
rs763715089 CA3808095	1349	D>E		No	ClinGen ExAC gnomAD
rs1562385738 CA364129000	1349	D>N		No	ClinGen Ensembl
rs1170932372 CA364129033	1353	P>S		No	ClinGen gnomAD
COSM1546271 CA3808097 rs761316370	1356	G>C	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA364129052 rs761316370	1356	G>S		No	ClinGen ExAC TOPMed gnomAD
CA364129057 rs1418581489	1357	P>T		No	ClinGen gnomAD
rs750040880 CA3808099	1358	L>S		No	ClinGen ExAC TOPMed gnomAD
CA138189656 rs893135322	1359	P>L		No	ClinGen TOPMed
CA3808115 rs761247709	1363	D>G		No	ClinGen ExAC gnomAD
rs1357883533 CA364129312	1364	D>G		No	ClinGen TOPMed gnomAD
rs1582706999 CA364129308	1364	D>N		No	ClinGen Ensembl
rs1357883533 CA364129313	1364	D>V		No	ClinGen TOPMed gnomAD
CA364129317 rs1369645263	1365	C>R		No	ClinGen TOPMed
rs767027196 CA3808116	1366	L>P		No	ClinGen ExAC gnomAD
rs1418401385 CA364129353	1370	T>M		No	ClinGen TOPMed
rs151085727 CA3808118	1371	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA3808120 rs753066780	1374	A>T	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA138191534 rs772951543	1379	V>M		No	ClinGen Ensembl
CA3808122 rs778166506	1380	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1038980973 CA138191536	1380	A>V		No	ClinGen TOPMed
rs1417884010 CA364129442	1385	V>M		No	ClinGen gnomAD
rs1458294229 CA364129454	1386	Q>H		No	ClinGen gnomAD
rs377016061 CA3808123	1386	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1349006496 CA364129466	1388	H>L		No	ClinGen gnomAD
CA364129495 rs1355042344	1392	L>F		No	ClinGen TOPMed
rs1562389490 CA364129502	1393	F>S		No	ClinGen Ensembl
CA3808125 rs781399244	1393	F>V		No	ClinGen ExAC TOPMed gnomAD
rs1295112760 CA364129511	1394	A>V		No	ClinGen gnomAD
CA364129536 rs1342435096	1397	V>L		No	ClinGen TOPMed gnomAD
CA3808137 rs372212454	1402	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA138191678 rs891700219	1404	E>D		No	ClinGen TOPMed
CA3808138 rs766035913	1406	P>T		No	ClinGen ExAC TOPMed gnomAD
rs776216881 CA3808139	1407	C>S		No	ClinGen ExAC gnomAD
CA364129613 rs1308407818	1408	I>V		No	ClinGen gnomAD
rs774315506 CA138191683	1409	L>S		No	ClinGen Ensembl
CA364129626 rs1175569550	1410	D>N		No	ClinGen Ensembl
CA364129639 rs1352311090	1412	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1412825655 CA364129657	1414	F>L		No	ClinGen gnomAD
rs776802942 CA3808157	1421	V>A		No	ClinGen ExAC TOPMed gnomAD
rs200468826 CA138193177	1423	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3808159 rs112684241	1424	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1251442644 CA364129736	1424	F>S		No	ClinGen TOPMed
CA3808160 rs762016028	1426	A>V		No	ClinGen ExAC gnomAD
rs1402893522 CA364129761	1428	Q>P		No	ClinGen TOPMed gnomAD
rs761961373 CA138193218	1431	D>A		No	ClinGen Ensembl
rs756291138 CA3808163	1434	G>E		No	ClinGen ExAC gnomAD
CA3808165 rs754068464	1436	S>G		No	ClinGen ExAC gnomAD
rs1284314352 CA364129835	1439	T>A		No	ClinGen TOPMed
rs1434681460 CA364129838	1439	T>S		No	ClinGen gnomAD
CA3808167 rs778939400	1440	G>A		No	ClinGen ExAC gnomAD
rs371184591 CA3808166	1440	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1440	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1443	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1015373244 CA138193259	1444	I>V		No	ClinGen TOPMed gnomAD
CA364129876 rs1582712492	1445	F>C		No	ClinGen Ensembl
rs144563592 CA3808168	1445	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs777721526 CA3808170	1446	H>R		No	ClinGen ExAC gnomAD
CA3808169 rs758140314	1446	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA364129896 rs1464002570	1449	T>S		No	ClinGen TOPMed gnomAD
CA138193285 rs535048194	1450	M>T		No	ClinGen Ensembl
CA364129903 rs1208967020	1450	M>V		No	ClinGen TOPMed gnomAD
rs770476202 CA3808172	1451	A>V		No	ClinGen ExAC gnomAD
CA364129915 rs1260321983	1452	H>N		No	ClinGen TOPMed
CA364129917 rs1260321983	1452	H>Y		No	ClinGen TOPMed
CA364129923 rs1367280307	1453	I>L		No	ClinGen TOPMed
rs1197961859 CA364129931	1454	I>V		No	ClinGen gnomAD
CA3808173 rs776189697	1455	Q>K		No	ClinGen ExAC gnomAD
rs138783967 CA3808175	1456	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3808176 rs774944700	1456	I>M		No	ClinGen ExAC TOPMed gnomAD
CA3808174 rs138783967	1456	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762256256 CA3808177	1457	L>I		No	ClinGen ExAC gnomAD
rs772522268 CA364129973	1461	C>R		No	ClinGen ExAC TOPMed gnomAD
rs772522268 CA3808178	1461	C>S		No	ClinGen ExAC TOPMed gnomAD
rs1321294503 CA364129974	1461	C>Y		No	ClinGen gnomAD
rs111273100 CA3808179	1462	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3808187 rs758231957	1464	E>K		No	ClinGen ExAC TOPMed gnomAD
rs758231957 CA3808188	1464	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA364130015 rs200591930	1465	N>I		No	ClinGen ExAC TOPMed gnomAD
COSM188487 CA3808190 rs200591930	1465	N>S	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs757179662 CA364130021	1466	G>D		No	ClinGen ExAC TOPMed gnomAD
CA364130020 rs1207963389	1466	G>S		No	ClinGen TOPMed
CA3808191 rs757179662	1466	G>V		No	ClinGen ExAC TOPMed gnomAD
rs780925328 CA3808192	1467	M>L		No	ClinGen ExAC gnomAD
rs1307692192 CA364130056	1471	N>D		No	ClinGen Ensembl
CA3808194 rs201635437	1472	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3808193 rs745396596	1472	P>S		No	ClinGen ExAC gnomAD
rs144565000 CA3808197	1473	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3808196 rs748915463	1473	P>S		No	ClinGen ExAC gnomAD
rs751700119 CA138193665	1474	C>S		No	ClinGen Ensembl
CA3808199 rs761058017	1476	E>K		No	ClinGen ExAC gnomAD
CA3808200 rs368126304	1477	E>K		No	ClinGen ESP ExAC gnomAD
rs776955880 CA3808201	1478	S>L		No	ClinGen ExAC gnomAD
rs759693818 CA3808202	1479	A>V		No	ClinGen ExAC gnomAD
CA3808203 rs765201709	1480	V>A		No	ClinGen ExAC gnomAD
rs564003325 CA3808204	1482	A>G		No	ClinGen 1000Genomes ExAC gnomAD
rs763147688 CA3808205	1484	Y>C		No	ClinGen ExAC gnomAD
rs763940684 CA3808207	1489	Q>R		No	ClinGen ExAC gnomAD
rs1252769502 CA364130184	1491	T>A		No	ClinGen gnomAD
CA3808209 rs756987316	1491	T>M		No	ClinGen ExAC TOPMed gnomAD
CA364130601 rs1365466904	1494	A>S		No	ClinGen gnomAD
rs1476126064 CA364130620	1497	E>K		No	ClinGen Ensembl
CA3808227 rs764313181	1498	I>M		No	ClinGen ExAC gnomAD
CA138195047 rs199921595	1498	I>T		No	ClinGen Ensembl
rs1199648772 CA364130644	1500	S>F		No	ClinGen gnomAD
TCGA novel	1501	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375384984 CA3808229 COSM1079344	1501	G>S	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
TCGA novel	1501	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1192076607 CA364130683	1506	R>K		No	ClinGen TOPMed
CA364130698 rs1263854998	1508	V>F		No	ClinGen gnomAD
CA364130709 rs1488607954	1510	A>T		No	ClinGen TOPMed
CA364130736 rs1266808928	1513	M>I		No	ClinGen TOPMed
TCGA novel	1514	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA138195074 rs973347247	1516	L>M		No	ClinGen TOPMed
CA364130797 rs1268739016	1520	A>T		No	ClinGen TOPMed
rs1486311216 CA364130810	1521	L>S		No	ClinGen gnomAD
rs1247717084 CA364130807	1521	L>V		No	ClinGen gnomAD
TCGA novel	1524	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1188709114 CA364130890	1528	G>A		No	ClinGen gnomAD
rs1423466713 CA364130908	1530	P>R		No	ClinGen gnomAD
rs1185052398 CA364130915	1531	S>F		No	ClinGen gnomAD
CA364130927 rs1177366029	1533	P>T		No	ClinGen gnomAD
CA3808234 rs750476978	1534	D>N		No	ClinGen ExAC TOPMed gnomAD
rs750476978 CA364130938	1534	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA364130955 rs371996907	1535	I>M		No	ClinGen ESP TOPMed gnomAD
rs757983850 CA3808255	1539	G>A		No	ClinGen ExAC gnomAD
CA3808254 rs376164994	1539	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1540	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1542	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3808256 rs369027678	1543	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs750764886 CA3808257	1544	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA138195638 rs910684747	1545	H>R		No	ClinGen Ensembl
CA3808258 rs756451238	1547	C>R		No	ClinGen ExAC gnomAD
rs1294364092 CA364131126	1547	C>Y		No	ClinGen gnomAD
CA364131152 rs1482376639	1549	Y>C		No	ClinGen gnomAD
CA3808259 rs780569136 COSM1697239	1551	S>F	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA364131176 rs1351683950	1552	L>I		No	ClinGen TOPMed
rs1232964989 CA364131202	1554	N>K		No	ClinGen gnomAD
CA3808260 rs749759309	1556	L>F		No	ClinGen ExAC gnomAD
rs778947113 CA3808262	1558	C>Y		No	ClinGen ExAC gnomAD
CA138195658 rs946463604	1560	F>L		No	ClinGen TOPMed gnomAD
CA3808263 rs767694157	1563	N>S		No	ClinGen ExAC gnomAD
CA3808264 rs373338945	1564	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA3808265 rs373338945	1564	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA364131326 rs1429056625	1567	M>L		No	ClinGen gnomAD
rs1184446115 CA364131350	1568	N>K		No	ClinGen gnomAD
rs760422381 CA3808266	1568	N>Y		No	ClinGen ExAC TOPMed gnomAD
CA3808269 rs759534183	1571	I>M		No	ClinGen ExAC gnomAD
rs776759758 CA3808268	1571	I>T		No	ClinGen ExAC gnomAD
CA3808293 rs554509300	1576	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA3808294 rs554509300	1576	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761770410 CA3808295	1576	R>H		No	ClinGen ExAC TOPMed gnomAD
CA364128478 rs761770410	1576	R>L		No	ClinGen ExAC TOPMed gnomAD
rs554509300 CA364128466	1576	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765190593 CA138157310	1577	N>D		No	ClinGen gnomAD
rs769865060 CA3808296	1577	N>K		No	ClinGen ExAC gnomAD
CA3808297 rs141719695	1578	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA3808298 rs574726440	1578	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1579	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1193679383 CA364128525	1579	E>D		No	ClinGen gnomAD
CA3808299 rs763629106	1581	K>R		No	ClinGen ExAC gnomAD
CA3808300 rs150644648	1583	Y>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761438122 CA3808301 COSM223087	1586	G>D	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
TCGA novel	1587	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3808303 rs754204275	1590	A>D		No	ClinGen ExAC TOPMed gnomAD
rs1386789382 CA364128600	1591	I>V		No	ClinGen gnomAD
rs1044454747 CA138158339	1599	K>T		No	ClinGen TOPMed gnomAD
CA364129166 rs1185363006	1601	I>V		No	ClinGen TOPMed
CA364129178 rs1262192724	1602	N>K		No	ClinGen TOPMed gnomAD
CA364129175 rs1582733475	1602	N>T		No	ClinGen Ensembl
CA364129181 rs759938173	1603	L>F		No	ClinGen ExAC TOPMed gnomAD
CA3808322 rs759938173	1603	L>I		No	ClinGen ExAC TOPMed gnomAD
CA364129208 rs1205301264	1607	Y>H		No	ClinGen TOPMed
rs765617427 CA3808323	1608	S>R		No	ClinGen ExAC gnomAD
TCGA novel	1609	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364129222 rs1582733547	1609	S>R		No	ClinGen Ensembl
CA138158361 rs1017000245	1615	S>T		No	ClinGen Ensembl
CA3808325 rs758941150	1616	N>S		No	ClinGen ExAC gnomAD
rs764443290 CA3808326	1618	S>L		No	ClinGen ExAC gnomAD
rs1462919304 CA364130213	1619	C>R		No	ClinGen gnomAD
rs1450965787 CA364130225	1620	P>L		No	ClinGen gnomAD
rs1216420784 CA364130243	1623	G>D		No	ClinGen TOPMed
rs1582743976 CA364130258	1625	D>E		No	ClinGen Ensembl
rs1399376016 CA364130276	1628	R>G		No	ClinGen gnomAD
rs577089593 CA3808354	1629	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3808353 rs577089593	1629	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201145148 CA3808355	1631	T>A		No	ClinGen ExAC TOPMed gnomAD
rs754691704 CA3808356	1631	T>I		No	ClinGen ExAC gnomAD
CA138160889 rs965585849	1637	G>R		No	ClinGen gnomAD
rs1306557810 CA364130344	1639	L>P		No	ClinGen TOPMed
CA3808359 rs771628880	1641	C>S		No	ClinGen ExAC gnomAD
rs1244036144 CA364130353	1641	C>Y		No	ClinGen gnomAD
CA3808360 rs777264413	1642	S>C		No	ClinGen ExAC
CA364130378 rs1462804974	1644	S>R		No	ClinGen gnomAD
CA364130407 rs1353575042	1648	Q>R		No	ClinGen TOPMed
rs776100448 CA3808363	1654	E>K		No	ClinGen ExAC gnomAD
rs1554266569 CA364130471	1658	A>T		No	ClinGen Ensembl
rs775043466 CA3808366	1660	T>A		No	ClinGen ExAC gnomAD
CA364130489 rs1468900248	1660	T>I		No	ClinGen gnomAD
rs762392554 CA3808367	1663	T>I		No	ClinGen ExAC TOPMed gnomAD
rs370358393 CA3808368	1664	Y>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs750534372 CA3808369	1665	S>C		No	ClinGen ExAC TOPMed gnomAD
CA364130529 rs1362320499	1667	G>S		No	ClinGen gnomAD
CA364130774 rs1347411364	1676	V>E		No	ClinGen gnomAD
CA364130787 rs1306646038	1677	R>Q		No	ClinGen TOPMed gnomAD
rs769197553 CA3808384	1677	R>W		No	ClinGen ExAC TOPMed gnomAD
rs762200651 CA3808386	1684	L>S		No	ClinGen ExAC gnomAD
CA138161686 rs948137431	1685	A>S		No	ClinGen TOPMed
rs1258212744 CA364130980	1686	G>D		No	ClinGen gnomAD
CA3808387 rs772718422	1689	K>R		No	ClinGen ExAC gnomAD
CA138161696 rs760477584	1690	G>D		No	ClinGen Ensembl
rs773804837 CA3808388	1690	G>S		No	ClinGen ExAC gnomAD
CA3808390 rs760851431	1696	P>A		No	ClinGen ExAC gnomAD
rs760851431 CA3808389	1696	P>S		No	ClinGen ExAC gnomAD
CA364131132 rs1407752530	1698	L>V		No	ClinGen TOPMed
CA364131181 rs1468212353	1700	D>G		No	ClinGen gnomAD
CA3808394 rs545959613	1705	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs758143971 CA3808395	1706	Q>E		No	ClinGen ExAC gnomAD
rs201209951 CA3808417	1710	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs767421828 CA3808416	1710	R>W		No	ClinGen ExAC TOPMed gnomAD
CA3808418 rs755635525	1711	G>E		No	ClinGen ExAC gnomAD
rs1309877348 CA364131414	1711	G>R		No	ClinGen TOPMed
CA3808419 rs779882044	1712	N>D		No	ClinGen ExAC gnomAD
rs1453899414 CA364131431	1713	P>L		No	ClinGen gnomAD
rs1378085605 CA364131442	1715	H>P		No	ClinGen gnomAD
CA364131474 rs1338049924	1719	E>G		No	ClinGen TOPMed gnomAD
CA364131475 rs1338049924	1719	E>V		No	ClinGen TOPMed gnomAD
CA3808421 rs758892620	1720	R>Q		No	ClinGen ExAC gnomAD
rs1364843258 CA364131498	1723	K>Q		No	ClinGen TOPMed
TCGA novel	1724	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364131547 rs1242212108	1729	H>R		No	ClinGen gnomAD
CA3808423 rs747332392	1729	H>Y		No	ClinGen ExAC gnomAD
CA138162499 rs986155117	1732	S>N		No	ClinGen TOPMed
CA3808424 rs771359674	1733	V>I		No	ClinGen ExAC gnomAD
CA3808425 rs376745750	1734	T>R		No	ClinGen ESP ExAC gnomAD
TCGA novel	1736	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369817607 CA3808426	1739	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1475057907 CA364131643	1743	A>P		No	ClinGen gnomAD
rs769836315 CA3808427	1744	N>S		No	ClinGen ExAC gnomAD
CA3808429 rs763145832	1747	L>P		No	ClinGen ExAC gnomAD
rs775735507 CA3808428	1747	L>V		No	ClinGen ExAC gnomAD
rs774017719 CA3808431	1748	V>A		No	ClinGen ExAC gnomAD

No associated diseases with Q8IWV8

6 regional properties for Q8IWV8

Type	Name	Position	InterPro Accession
domain	Pancreatic trypsin inhibitor Kunitz domain	51 - 105	IPR002223-1
domain	Pancreatic trypsin inhibitor Kunitz domain	123 - 176	IPR002223-2
domain	Pancreatic trypsin inhibitor Kunitz domain	215 - 268	IPR002223-3
conserved_site	Proteinase inhibitor I2, Kunitz, conserved site	82 - 100	IPR020901-1
conserved_site	Proteinase inhibitor I2, Kunitz, conserved site	153 - 171	IPR020901-2
conserved_site	Proteinase inhibitor I2, Kunitz, conserved site	245 - 263	IPR020901-3

Functions

		Description
EC Number	2.3.2.27	Aminoacyltransferases
Subcellular Localization	Nucleus Chromosome	Associated with chromatin during meiosis
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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.
ubiquitin ligase complex	A protein complex that includes a ubiquitin-protein ligase and enables ubiquitin protein ligase activity. The complex also contains other proteins that may confer substrate specificity on the complex.

4 GO annotations of molecular function

Name	Definition
histone ubiquitin ligase activity	Catalysis of the transfer of ubiquitin to a histone substrate.
leucine binding	Binding to 2-amino-4-methylpentanoic acid.
ubiquitin protein ligase activity	Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond
zinc ion binding	Binding to a zinc ion (Zn).

10 GO annotations of biological process

Name	Definition
cellular response to leucine	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 a leucine stimulus.
heterochromatin formation	An epigenetic gene silencing mechanism in which chromatin is compacted into heterochromatin, resulting in a chromatin conformation refractory to transcription. This process starts with heterochromatin nucleation, its spreading, and ends with heterochromatin boundary formation.
male meiosis I	A cell cycle process comprising the steps by which a cell progresses through male meiosis I, the first meiotic division in the male germline.
male meiotic nuclear division	A cell cycle process by which the cell nucleus divides as part of a meiotic cell cycle in the male germline.
negative regulation of TOR signaling	Any process that stops, prevents, or reduces the frequency, rate or extent of TOR signaling.
protein ubiquitination	The process in which one or more ubiquitin groups are added to a protein.
reciprocal meiotic recombination	The cell cycle process in which double strand breaks are formed and repaired through a single or double Holliday junction intermediate. This results in the equal exchange of genetic material between non-sister chromatids in a pair of homologous chromosomes. These reciprocal recombinant products ensure the proper segregation of homologous chromosomes during meiosis I and create genetic diversity.
retrotransposon silencing	Any process that decreases the frequency, rate or extent of retrotransposition. Retrotransposons are a subset of transposable elements that use an RNA intermediate and reverse transcribe themselves into the genome.
spermatogenesis	The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa.
ubiquitin-dependent protein catabolic process via the N-end rule pathway	The chemical reactions and pathways resulting in the breakdown of a protein or peptide covalently tagged with ubiquitin, via the N-end rule pathway. In the N-end rule pathway, destabilizing N-terminal residues (N-degrons) in substrates are recognized by E3 ligases (N-recognins), whereupon the substrates are linked to ubiquitin and then delivered to the proteasome for degradation.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P19812	UBR1	E3 ubiquitin-protein ligase UBR1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	EV
Q9VX91	Ubr1	E3 ubiquitin-protein ligase UBR1	Drosophila melanogaster (Fruit fly)	PR
Q8IWV7	UBR1	E3 ubiquitin-protein ligase UBR1	Homo sapiens (Human)	SS
O70481	Ubr1	E3 ubiquitin-protein ligase UBR1	Mus musculus (Mouse)	EV
Q6WKZ8	Ubr2	E3 ubiquitin-protein ligase UBR2	Mus musculus (Mouse)	SS

10	20	30	40	50	60
MASELEPEVQ	AIDRSLLECS	AEEIAGKWLQ	ATDLTREVYQ	HLAHYVPKIY	CRGPNPFPQK
70	80	90	100	110	120
EDMLAQHVLL	GPMEWYLCGE	DPAFGFPKLE	QANKPSHLCG	RVFKVGEPTY	SCRDCAVDPT
130	140	150	160	170	180
CVLCMECFLG	SIHRDHRYRM	TTSGGGGFCD	CGDTEAWKEG	PYCQKHELNT	SEIEEEEDPL
190	200	210	220	230	240
VHLSEDVIAR	TYNIFAITFR	YAVEILTWEK	ESELPADLEM	VEKSDTYYCM	LFNDEVHTYE
250	260	270	280	290	300
QVIYTLQKAV	NCTQKEAIGF	ATTVDRDGRR	SVRYGDFQYC	EQAKSVIVRN	TSRQTKPLKV
310	320	330	340	350	360
QVMHSSIVAH	QNFGLKLLSW	LGSIIGYSDG	LRRILCQVGL	QEGPDGENSS	LVDRLMLSDS
370	380	390	400	410	420
KLWKGARSVY	HQLFMSSLLM	DLKYKKLFAV	RFAKNYQQLQ	RDFMEDDHER	AVSVTALSVQ
430	440	450	460	470	480
FFTAPTLARM	LITEENLMSI	IIKTFMDHLR	HRDAQGRFQF	ERYTALQAFK	FRRVQSLILD
490	500	510	520	530	540
LKYVLISKPT	EWSDELRQKF	LEGFDAFLEL	LKCMQGMDPI	TRQVGQHIEM	EPEWEAAFTL
550	560	570	580	590	600
QMKLTHVISM	MQDWCASDEK	VLIEAYKKCL	AVLMQCHGGY	TDGEQPITLS	ICGHSVETIR
610	620	630	640	650	660
YCVSQEKVSI	HLPVSRLLAG	LHVLLSKSEV	AYKFPELLPL	SELSPPMLIE	HPLRCLVLCA
670	680	690	700	710	720
QVHAGMWRRN	GFSLVNQIYY	YHNVKCRREM	FDKDVVMLQT	GVSMMDPNHF	LMIMLSRFEL
730	740	750	760	770	780
YQIFSTPDYG	KRFSSEITHK	DVVQQNNTLI	EEMLYLIIML	VGERFSPGVG	QVNATDEIKR
790	800	810	820	830	840
EIIHQLSIKP	MAHSELVKSL	PEDENKETGM	ESVIEAVAHF	KKPGLTGRGM	YELKPECAKE
850	860	870	880	890	900
FNLYFYHFSR	AEQSKAEEAQ	RKLKRQNRED	TALPPPVLPP	FCPLFASLVN	ILQSDVMLCI
910	920	930	940	950	960
MGTILQWAVE	HNGYAWSESM	LQRVLHLIGM	ALQEEKQHLE	NVTEEHVVTF	TFTQKISKPG
970	980	990	1000	1010	1020
EAPKNSPSIL	AMLETLQNAP	YLEVHKDMIR	WILKTFNAVK	KMRESSPTSP	VAETEGTIME
1030	1040	1050	1060	1070	1080
ESSRDKDKAE	RKRKAEIARL	RREKIMAQMS	EMQRHFIDEN	KELFQQTLEL	DASTSAVLDH
1090	1100	1110	1120	1130	1140
SPVASDMTLT	ALGPAQTQVP	EQRQFVTCIL	CQEEQEVKVE	SRAMVLAAFV	QRSTVLSKNR
1150	1160	1170	1180	1190	1200
SKFIQDPEKY	DPLFMHPDLS	CGTHTSSCGH	IMHAHCWQRY	FDSVQAKEQR	RQQRLRLHTS
1210	1220	1230	1240	1250	1260
YDVENGEFLC	PLCECLSNTV	IPLLLPPRNI	FNNRLNFSDQ	PNLTQWIRTI	SQQIKALQFL
1270	1280	1290	1300	1310	1320
RKEESTPNNA	STKNSENVDE	LQLPEGFRPD	FRPKIPYSES	IKEMLTTFGT	ATYKVGLKVH
1330	1340	1350	1360	1370	1380
PNEEDPRVPI	MCWGSCAYTI	QSIERILSDE	DKPLFGPLPC	RLDDCLRSLT	RFAAAHWTVA
1390	1400	1410	1420	1430	1440
SVSVVQGHFC	KLFASLVPND	SHEELPCILD	IDMFHLLVGL	VLAFPALQCQ	DFSGISLGTG
1450	1460	1470	1480	1490	1500
DLHIFHLVTM	AHIIQILLTS	CTEENGMDQE	NPPCEEESAV	LALYKTLHQY	TGSALKEIPS
1510	1520	1530	1540	1550	1560
GWHLWRSVRA	GIMPFLKCSA	LFFHYLNGVP	SPPDIQVPGT	SHFEHLCSYL	SLPNNLICLF
1570	1580	1590	1600	1610	1620
QENSEIMNSL	IESWCRNSEV	KRYLEGERDA	IRYPRESNKL	INLPEDYSSL	INQASNFSCP
1630	1640	1650	1660	1670	1680
KSGGDKSRAP	TLCLVCGSLL	CSQSYCCQTE	LEGEDVGACT	AHTYSCGSGV	GIFLRVRECQ
1690	1700	1710	1720	1730	1740
VLFLAGKTKG	CFYSPPYLDD	YGETDQGLRR	GNPLHLCKER	FKKIQKLWHQ	HSVTEEIGHA
1750
QEANQTLVGI	DWQHL