AiPD: Autoinhibited Protein Database

Q14146

Gene name	URB2 (KIAA0133)
Protein name	Unhealthy ribosome biogenesis protein 2 homolog
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9816
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1003-1076 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1003-1076 (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

1 structures for Q14146

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q14146-F1	Predicted				AlphaFoldDB

1322 variants for Q14146

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs193921013 CA174596 RCV000149221	458	Q>E	Malignant tumor of prostate [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1665832767 RCV001253682	650	G>missing	Epilepsy [ClinVar]	Yes	ClinVar dbSNP
rs1358001550 CA345185137	3	A>D		No	ClinGen TOPMed gnomAD
rs749083603 CA1444951	5	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA38831336 rs779299168	7	G>D		No	ClinGen ExAC gnomAD
rs779299168 CA1444952	7	G>V		No	ClinGen ExAC gnomAD
CA38831339 rs374458592	8	I>V		No	ClinGen gnomAD
CA38831348 rs1042237468	10	L>R		No	ClinGen Ensembl
CA1444953 rs774493618	10	L>V		No	ClinGen ExAC gnomAD
rs759546499 CA1444954	11	K>E		No	ClinGen ExAC gnomAD
COSM278018 CA345185244 rs1217911810	14	S>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1278555946 CA345185262	15	K>N		No	ClinGen gnomAD
CA38831354 rs1012911967	17	T>A		No	ClinGen TOPMed
CA345185278 rs1179164719	17	T>S		No	ClinGen gnomAD
CA345185382 rs1420931506	23	L>V		No	ClinGen TOPMed
CA1444956 rs775458375	25	L>V		No	ClinGen ExAC gnomAD
CA345185436 rs1464595071	26	A>V		No	ClinGen gnomAD
rs770404874 CA38831369	27	H>R		No	ClinGen Ensembl
CA1444957 rs760914797	28	F>L		No	ClinGen ExAC gnomAD
CA345185467 rs971741255	29	A>P		No	ClinGen TOPMed gnomAD
rs971741255 CA38831385	29	A>S		No	ClinGen TOPMed gnomAD
rs971741255 CA38831382	29	A>T		No	ClinGen TOPMed gnomAD
CA345185538 rs1198150425	34	Q>*		No	ClinGen TOPMed
rs762224252 CA1444960	36	F>Y		No	ClinGen ExAC gnomAD
TCGA novel	38	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1444961 rs765730755	39	N>D		No	ClinGen ExAC gnomAD
CA1444962 rs750871944	39	N>S		No	ClinGen ExAC gnomAD
CA345186346 rs1306515523	43	V>L		No	ClinGen gnomAD
CA345186358 rs750817049	45	L>F		No	ClinGen ExAC gnomAD
CA345186357 rs750817049	45	L>I		No	ClinGen ExAC gnomAD
CA1444981 rs750817049	45	L>V		No	ClinGen ExAC gnomAD
CA345186364 rs1286091094	46	D>H		No	ClinGen TOPMed gnomAD
CA345186363 rs1286091094	46	D>N		No	ClinGen TOPMed gnomAD
rs766842130 CA1444983	47	W>*		No	ClinGen ExAC gnomAD
CA345186372 rs1311566103	47	W>G		No	ClinGen TOPMed
CA1444984 rs752234577	48	A>T		No	ClinGen ExAC gnomAD
rs369973606 CA1444986	53	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	54	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345186436 rs1461867633	56	Y>*		No	ClinGen TOPMed
CA345186434 rs753479798	56	Y>C		No	ClinGen ExAC gnomAD
rs753479798 CA1444987	56	Y>F		No	ClinGen ExAC gnomAD
CA38834840 rs1025052011	58	K>*		No	ClinGen TOPMed
CA1444988 rs756996367	61	E>G		No	ClinGen ExAC TOPMed gnomAD
CA345186482 rs1471577010	63	K>R		No	ClinGen gnomAD
CA1444989 rs778815468	64	E>K		No	ClinGen ExAC gnomAD
rs745701082 CA1444990	64	E>V		No	ClinGen ExAC gnomAD
rs202134097 CA1444992	66	I>N		No	ClinGen ExAC gnomAD
CA1444991 rs113623578	66	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs747109664 CA345186508	67	V>A		No	ClinGen ExAC TOPMed gnomAD
rs747109664 CA1444993	67	V>D		No	ClinGen ExAC TOPMed gnomAD
rs1571867240 CA345186505	67	V>I		No	ClinGen Ensembl
TCGA novel	68	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1444995 rs776786877	70	L>F		No	ClinGen ExAC gnomAD
rs1251795159 CA345186533	71	W>*		No	ClinGen TOPMed
CA38834852 rs775935915	72	I>S		No	ClinGen TOPMed
rs748329820 CA1444996	73	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA345186557 rs1317762205	74	I>M		No	ClinGen TOPMed
rs371401600 CA1444998	74	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1367693894 CA345186560	75	D>N		No	ClinGen gnomAD
rs1288373129 CA345186569	76	N>T		No	ClinGen TOPMed
CA1444999 rs773542596	77	I>L		No	ClinGen ExAC TOPMed gnomAD
rs773542596 CA1445000	77	I>V		No	ClinGen ExAC TOPMed gnomAD
CA1445001 rs769402409	79	H>R		No	ClinGen ExAC TOPMed gnomAD
CA345186587 rs1347294417	79	H>Y		No	ClinGen TOPMed
rs116495095 CA1445002	80	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1445003 rs375929018	80	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs763466456 CA345186617	83	L>S		No	ClinGen ExAC TOPMed gnomAD
rs763466456 CA1445004	83	L>W		No	ClinGen ExAC TOPMed gnomAD
rs1248241573 CA345186626	84	Q>H		No	ClinGen TOPMed gnomAD
rs1186330091 CA345186625	84	Q>L		No	ClinGen gnomAD
rs138540419 CA38834883	88	K>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA1445006 rs138540419	88	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA1445008 rs369255316	89	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA345186675 rs1201220291	92	T>P		No	ClinGen gnomAD
CA1445009 rs758196309	93	I>V		No	ClinGen ExAC TOPMed gnomAD
CA345186693 rs1571867369	94	N>K		No	ClinGen Ensembl
rs1400091839 CA345186691	94	N>S		No	ClinGen gnomAD
CA1445011 rs779904873	95	L>F		No	ClinGen ExAC TOPMed gnomAD
rs746864859 CA345186701	96	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs754973924 CA1445013	96	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA1445012 rs746864859	96	Q>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	96	Q>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345186718 rs1171245598	98	S>F		No	ClinGen gnomAD
rs1390955773	102	I>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA345187048 rs1159975508	102	I>F		No	ClinGen TOPMed gnomAD
rs776260888 CA1445024	103	I>M		No	ClinGen ExAC TOPMed gnomAD
rs539877753 CA1445025	104	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs370683324 CA38836031	106	R>T		No	ClinGen Ensembl
CA1445026 rs373405367 CA1445027	110	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA345187110 rs1387122305	111	S>C		No	ClinGen TOPMed gnomAD
CA345187111 rs1387122305	111	S>F		No	ClinGen TOPMed gnomAD
CA345187113 rs1329241507	112	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs564888164 CA1445029	113	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA38836045 rs1030327705	114	G>V		No	ClinGen TOPMed
CA1445032 rs528861549	115	S>Y		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	116	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1488643805 CA345187163	120	C>S		No	ClinGen TOPMed gnomAD
rs1211972433 CA345187176	121	A>V		No	ClinGen TOPMed gnomAD
CA345187185 rs1265767877	123	L>F		No	ClinGen gnomAD
rs756117158 CA1445034	124	R>*		No	ClinGen ExAC TOPMed gnomAD
CA1445035 rs777840008	124	R>Q		No	ClinGen ExAC gnomAD
rs1028518204 CA38836093	125	C>F		No	ClinGen TOPMed
CA345187204 rs1414188707	126	C>F		No	ClinGen gnomAD
CA38836096 rs950732439	128	G>V		No	ClinGen Ensembl
rs201313825 CA1445037	131	S>L		No	ClinGen ExAC TOPMed gnomAD
rs779121001 CA1445039	132	T>I		No	ClinGen ExAC gnomAD
rs114308095 CA1445042	134	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs114308095 CA1445041	134	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs369601457 CA1445043	134	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA345187252 rs1352326084	135	L>V		No	ClinGen gnomAD
CA1445044 rs769371382	136	A>S		No	ClinGen ExAC gnomAD
rs1463781642 CA345187262	137	V>L		No	ClinGen TOPMed
CA345187275 rs1571868973	139	Y>H		No	ClinGen Ensembl
CA1445046 rs150755656	140	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA1445045 rs772871801	140	T>P		No	ClinGen ExAC gnomAD
rs751296844 CA1445048	141	A>T		No	ClinGen ExAC gnomAD
rs759440781 CA1445049	143	Q>*		No	ClinGen ExAC gnomAD
CA1445050 rs767302100	143	Q>R		No	ClinGen ExAC gnomAD
CA345187324 rs1306282722	146	M>I		No	ClinGen gnomAD
rs1482398731 CA345187322	146	M>T		No	ClinGen gnomAD
rs1176657549 CA345187339	149	L>M		No	ClinGen TOPMed gnomAD
rs756063954 CA1445052	151	S>G		No	ClinGen ExAC gnomAD
CA345187375 rs1366443269	154	C>Y		No	ClinGen gnomAD
rs916292935 CA38836138	155	W>C		No	ClinGen Ensembl
CA1445054 rs753994270	155	W>R		No	ClinGen ExAC gnomAD
CA345187383 rs1372301073	155	W>S		No	ClinGen gnomAD
rs115641620 CA1445055	156	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA345187387 rs1366144119	156	S>T		No	ClinGen TOPMed
CA1445057 rs746217109	158	C>F		No	ClinGen ExAC gnomAD
CA345187402 rs746217109	158	C>S		No	ClinGen ExAC gnomAD
CA38836163 rs141044756	159	R>G		No	ClinGen ESP TOPMed gnomAD
TCGA novel	159	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1310153065 CA345187418	160	Q>H		No	ClinGen TOPMed gnomAD
rs780581627 CA1445059 COSM905302	162	E>K	Variant assessed as Somatic; 0.0002774 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1340624356 CA345187450	166	V>I		No	ClinGen gnomAD
CA1445060 rs747470407	167	A>T		No	ClinGen ExAC TOPMed gnomAD
CA1445061 rs769320005	168	Q>*		No	ClinGen ExAC gnomAD
rs377351410 CA1445062	170	F>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA345187500 rs1450372009	173	I>T		No	ClinGen gnomAD
CA345187507 rs1571869108	174	H>P		No	ClinGen Ensembl
rs956410947 CA345187512	175	L>V		No	ClinGen TOPMed gnomAD
TCGA novel	176	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1426624392 CA345187526	177	L>P		No	ClinGen gnomAD
rs1224226458 CA345187539	179	H>R		No	ClinGen gnomAD
CA345187551 rs1353659442	181	L>V		No	ClinGen TOPMed
CA1445064 rs770484883	185	Q>*		No	ClinGen ExAC
rs990249461 CA38836239	186	Q>*		No	ClinGen TOPMed gnomAD
rs1558163044 CA345187587	186	Q>H		No	ClinGen Ensembl
CA1445065 rs571696943	186	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA1445066 rs759119835	187	Q>R		No	ClinGen ExAC gnomAD
CA345187596 rs1404863243	188	V>I		No	ClinGen gnomAD
rs752517101 CA1445068	192	R>C		No	ClinGen ExAC gnomAD
CA1445069 rs760578029	192	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1302574445 CA345187631	193	A>V		No	ClinGen gnomAD
rs1314537107 CA345187643	195	G>E		No	ClinGen gnomAD
rs1208076759 CA345187646	196	D>N		No	ClinGen gnomAD
rs377724531 CA1445071	196	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA345187659 rs1465474562	198	T>A		No	ClinGen gnomAD
rs1571869213 CA345187668	199	A>G		No	ClinGen Ensembl
CA1445072 rs142870295	199	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1571869218 CA345187675	200	H>P		No	ClinGen Ensembl
CA1445073 rs769482838	200	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1571869224 CA345187680	201	L>P		No	ClinGen Ensembl
rs1571869239 CA345187691	203	Q>P		No	ClinGen Ensembl
CA1445074 rs750601302	204	P>L		No	ClinGen ExAC TOPMed gnomAD
CA345187700 rs750601302	204	P>R		No	ClinGen ExAC TOPMed gnomAD
rs780528343 CA1445076	205	C>Y		No	ClinGen ExAC gnomAD
CA345187709 rs1457403315	206	L>V		No	ClinGen TOPMed gnomAD
CA38836335 rs1017787235	208	L>P		No	ClinGen gnomAD
rs1343741061 CA345187741	211	L>S		No	ClinGen gnomAD
rs781756634 CA1445079	212	L>F		No	ClinGen ExAC TOPMed gnomAD
CA345187748 rs1279919731	212	L>P		No	ClinGen TOPMed
TCGA novel	213	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM39191 rs770413665 CA1445081	214	G>E	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
CA38836354 rs374546741	215	G>D		No	ClinGen Ensembl
CA1445082 rs201737311	215	G>S		No	ClinGen 1000Genomes ExAC gnomAD
CA1445083 rs745480191	216	T>A		No	ClinGen ExAC TOPMed
CA1445084 rs771749464	217	W>G		No	ClinGen ExAC TOPMed gnomAD
rs771749464 CA345187770	217	W>R		No	ClinGen ExAC TOPMed gnomAD
CA1445085 rs775246393	218	T>A		No	ClinGen ExAC gnomAD
rs146508738 CA1445086	218	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761670602 CA1445089	220	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1157395183 CA345187794	220	A>V		No	ClinGen TOPMed
CA345187805 rs1400564281	222	Q>R		No	ClinGen TOPMed
rs1247118198 COSM1473585 CA345187812	223	G>D	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA345187811 rs1214769074	223	G>S		No	ClinGen TOPMed gnomAD
CA345187848 rs1558163203	228	V>G		No	ClinGen Ensembl
rs758663513 CA345187849	229	L>M		No	ClinGen ExAC TOPMed gnomAD
rs758663513 CA1445093	229	L>V		No	ClinGen ExAC TOPMed gnomAD
CA1445097 rs751965770	231	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs766764236 CA1445096	231	R>W		No	ClinGen ExAC TOPMed
rs755327033 CA1445098	232	D>A		No	ClinGen ExAC
rs1571869400 CA345187890	235	S>I		No	ClinGen Ensembl
CA345187892 rs1405310644	235	S>R		No	ClinGen TOPMed gnomAD
rs570321211 CA1445100	237	I>F		No	ClinGen 1000Genomes ExAC gnomAD
CA1445102 rs756607327	239	A>S		No	ClinGen ExAC gnomAD
CA1445105 rs148010009	240	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1445104 rs148836187	240	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs771663196 CA38836470	240	M>V		No	ClinGen gnomAD
CA345187933 rs147293351	241	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1445107 rs775195109	242	R>*		No	ClinGen ExAC TOPMed gnomAD
CA1445108 rs773874122	242	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs776313298 CA1445110	243	G>E		No	ClinGen ExAC gnomAD
CA1445109 rs768440562	243	G>R		No	ClinGen ExAC
rs1290926823 CA345187943	244	G>E		No	ClinGen gnomAD
CA1445111 rs761772272	244	G>R		No	ClinGen ExAC gnomAD
rs1183691020 CA345187956	246	F>Y		No	ClinGen gnomAD
rs773412127 CA1445113	247	Q>K		No	ClinGen ExAC gnomAD
CA1445114 rs763189498	248	P>R		No	ClinGen ExAC gnomAD
TCGA novel	249	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345187989 rs1413148087	251	L>P		No	ClinGen TOPMed
rs1571869493 CA345187995	252	S>L		No	ClinGen Ensembl
CA1445115 rs761199151	254	Y>C		No	ClinGen ExAC gnomAD
CA1445117 rs373645510	255	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA345188029 rs1371678549	256	E>G		No	ClinGen TOPMed gnomAD
CA38836575 rs923725536	259	L>S		No	ClinGen Ensembl
rs934962835 CA38836579	261	Q>*		No	ClinGen Ensembl
CA1445120 rs756618979	264	G>E		No	ClinGen ExAC gnomAD
rs1053385324 CA38836586	265	D>G		No	ClinGen Ensembl
rs1161456197 CA345188158	267	K>E		No	ClinGen gnomAD
rs114879838 CA1445121	268	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs114879838 CA38836589	268	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757841631 CA1445123	271	M>R		No	ClinGen ExAC gnomAD
rs914782919 CA38836599	271	M>V		No	ClinGen TOPMed
CA345188220 rs1342726833	272	K>N		No	ClinGen gnomAD
CA345188215 rs1290827348	272	K>R		No	ClinGen gnomAD
rs1242663392 CA1445125	273	N>K		No	ClinGen TOPMed
CA1445124 rs779556327	273	N>S		No	ClinGen ExAC gnomAD
rs746616928 CA1445127	276	A>S		No	ClinGen ExAC gnomAD
rs781011859 CA1445130	278	M>K		No	ClinGen ExAC gnomAD
rs768224238 CA38836608	278	M>L		No	ClinGen ExAC TOPMed gnomAD
rs781011859 CA1445129	278	M>T		No	ClinGen ExAC gnomAD
CA1445128 rs768224238	278	M>V		No	ClinGen ExAC TOPMed gnomAD
CA345188292 rs1238842885	279	D>G		No	ClinGen TOPMed gnomAD
CA345188300 rs1442436024	280	T>A		No	ClinGen gnomAD
rs1183342670 CA345188303	280	T>N		No	ClinGen gnomAD
CA1445132 rs116505905	281	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	283	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1445133 rs762997234	286	V>F		No	ClinGen ExAC TOPMed gnomAD
rs1571869636 CA345188370	286	V>G		No	ClinGen Ensembl
CA345188381 rs1571869639	287	D>G		No	ClinGen Ensembl
rs771084876 CA1445134	288	A>V		No	ClinGen ExAC TOPMed gnomAD
CA1445137 rs192698342	290	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1445136 rs759771017	290	Y>D		No	ClinGen ExAC TOPMed gnomAD
rs1404157660 CA345188421	291	C>R		No	ClinGen gnomAD
rs761014400 CA1445139	295	L>F		No	ClinGen ExAC
CA345188477 rs1223968918	296	H>P		No	ClinGen TOPMed gnomAD
CA1445141 rs754288368	298	S>P		No	ClinGen ExAC gnomAD
CA1445142 rs757784403	300	V>A		No	ClinGen ExAC gnomAD
rs751111779 CA1445144	304	V>L		No	ClinGen ExAC TOPMed gnomAD
CA345188545 rs1264509279	305	A>S		No	ClinGen gnomAD
rs754637823 CA1445145	305	A>V		No	ClinGen ExAC gnomAD
CA345188555 rs780772531	307	L>M		No	ClinGen ExAC gnomAD
CA1445146 rs780772531	307	L>V		No	ClinGen ExAC gnomAD
TCGA novel	308	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	309	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747838556 CA1445147	310	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1445148 rs531628488	312	L>I		No	ClinGen 1000Genomes ExAC gnomAD
rs750801691 CA1445149	313	D>*		No	ClinGen ESP ExAC gnomAD
CA1445151 rs749194032	313	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1442690703 CA345188597	313	D>V		No	ClinGen TOPMed
CA1445152 rs374763136	315	Y>*		No	ClinGen ESP ExAC gnomAD
rs774548639 CA1445153	316	F>S		No	ClinGen ExAC gnomAD
CA1445154 rs759590108	321	Q>*		No	ClinGen ExAC gnomAD
rs1004863619 CA38836721	321	Q>H		No	ClinGen gnomAD
rs1383704616 CA345188659	322	L>P		No	ClinGen gnomAD
rs772337257 CA1445155	323	L>F		No	ClinGen ExAC gnomAD
CA1445156 rs775511450 COSM3741092	325	F>L	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA345188678 rs1204029919	325	F>S		No	ClinGen TOPMed
rs1233904264 CA345188683	326	Q>*		No	ClinGen gnomAD
CA345188689 rs1284597606	327	V>I		No	ClinGen TOPMed gnomAD
rs1320797622 CA345188701	329	P>S		No	ClinGen gnomAD
CA345188750 rs1222460058	336	K>Q		No	ClinGen gnomAD
CA345188762 rs1268355020	337	I>T		No	ClinGen gnomAD
CA1445157 rs760969910	339	H>Y		No	ClinGen ExAC gnomAD
rs1261501487 CA345188780	340	L>P		No	ClinGen gnomAD
rs1203721931 CA345188779	340	L>V		No	ClinGen TOPMed gnomAD
rs1452653754 CA345188785	341	Q>*		No	ClinGen gnomAD
rs1452653754 CA345188784	341	Q>E		No	ClinGen gnomAD
CA1445158 rs764396868	343	E>K		No	ClinGen ExAC gnomAD
CA1445159 rs777012745	343	E>V		No	ClinGen ExAC gnomAD
rs1307574519 CA345188814	345	S>G		No	ClinGen TOPMed
CA38836744 rs1016279601	346	K>E		No	ClinGen Ensembl
CA345188837 rs1297092825	348	L>P		No	ClinGen TOPMed
CA1445162 rs751069335	350	T>I		No	ClinGen ExAC gnomAD
CA345188858 rs1384008626	352	D>Y		No	ClinGen gnomAD
CA345188871 rs1324183582	353	W>C		No	ClinGen Ensembl
CA345188869 rs1461113502	353	W>L		No	ClinGen Ensembl
rs1304893198 CA345188878	354	T>I		No	ClinGen gnomAD
rs1242271844 CA345188883	355	T>R		No	ClinGen TOPMed gnomAD
CA1445164 rs767066194	356	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA1445165 rs752242034	357	L>V		No	ClinGen ExAC gnomAD
rs1397114069 CA345188903	358	L>F		No	ClinGen Ensembl
rs777676028 CA1445167	359	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1179119872 CA345188911	360	V>L		No	ClinGen TOPMed gnomAD
CA1445168 rs749141418	362	Q>*		No	ClinGen ExAC gnomAD
rs1356416825 CA345188950	366	S>A		No	ClinGen TOPMed
TCGA novel	367	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345188963 rs1571869907	368	A>D		No	ClinGen Ensembl
CA345188973 rs1357511967	369	N>K		No	ClinGen gnomAD
CA345188970 rs1162753578	369	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1225265967 CA345188974	370	N>D		No	ClinGen TOPMed gnomAD
CA1445171 rs745825550	370	N>K		No	ClinGen ExAC gnomAD
rs1400127416 CA345188994	372	I>M		No	ClinGen gnomAD
rs771991334 CA1445172	372	I>V		No	ClinGen ExAC gnomAD
rs1387657478 CA345189006	374	N>S		No	ClinGen TOPMed
TCGA novel	374	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747159360 CA1445175	375	I>M		No	ClinGen ExAC TOPMed gnomAD
CA1445173 rs775666293	375	I>V		No	ClinGen ExAC TOPMed gnomAD
rs776959754 CA1445176	376	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1408467353 CA345189020	376	A>V		No	ClinGen gnomAD
rs989520559 CA38836790	378	D>E		No	ClinGen TOPMed gnomAD
rs765588103 CA1445178 COSM264582	378	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA345189028 rs765588103	378	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs773533297 CA1445179	379	R>G		No	ClinGen ExAC TOPMed
rs914896000 CA38836799	381	R>Q		No	ClinGen TOPMed gnomAD
CA1445180 rs763537395	381	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1445182 rs752287632	382	H>L		No	ClinGen ExAC gnomAD
CA1445184 rs763894401 COSM272059	383	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA1445185 rs763894401	383	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs757047802 CA345189087	385	A>S		No	ClinGen ExAC gnomAD
rs757047802 CA1445186	385	A>T		No	ClinGen ExAC gnomAD
rs1305835873 CA345189098	386	Q>E		No	ClinGen gnomAD
rs778866963 CA1445187	387	F>L		No	ClinGen ExAC
CA1445188 rs745747342	388	R>C		No	ClinGen ExAC TOPMed gnomAD
CA1445189 rs371904819	388	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA345189134 rs1313440060	389	F>L		No	ClinGen gnomAD
rs1359285423 CA345189153	390	Y>C		No	ClinGen gnomAD
rs1359285423 CA345189152	390	Y>S		No	ClinGen gnomAD
CA1445190 rs759840542	391	R>C		No	ClinGen ExAC TOPMed gnomAD
CA1445192 rs747162812	391	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1445191 rs747162812	391	R>L		No	ClinGen ExAC TOPMed gnomAD
CA345189182 rs142048372	393	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1445194 rs142048372	393	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs770093927 CA1445195	394	A>T		No	ClinGen ExAC gnomAD
CA38836851 rs1051952853	398	I>K		No	ClinGen Ensembl
CA345189236 rs1222910926	398	I>V		No	ClinGen gnomAD
CA345189246 rs1558163856	399	N>Y		No	ClinGen Ensembl
rs1185176290 CA345189259	400	H>D		No	ClinGen gnomAD
CA345189274 rs1383189435	401	A>S		No	ClinGen gnomAD
rs763337476 CA1445197	401	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1169157077 CA345189285	402	Q>R		No	ClinGen gnomAD
rs886495130 CA38836863	403	A>T		No	ClinGen TOPMed
CA345189301 rs1356268479	404	P>A		No	ClinGen gnomAD
CA345189309 rs1460024875	404	P>L		No	ClinGen gnomAD
CA1445199 rs777872623	405	I>V		No	ClinGen ExAC gnomAD
rs565074872 CA38836874	406	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs565074872 CA1445201	406	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760325729 CA1445200	406	P>S		No	ClinGen ExAC gnomAD
CA345189350 rs753486076	408	W>*		No	ClinGen ExAC TOPMed gnomAD
rs753486076 CA1445203 CA38836879	408	W>C		No	ClinGen ExAC TOPMed gnomAD
rs1349140717 CA345189371	410	R>C		No	ClinGen TOPMed
rs139241970 CA1445204	410	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1240166058 CA345189396	412	L>P		No	ClinGen TOPMed
CA1445205 rs527459306	412	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs147526365 CA1445207	416	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1202016329 CA345189474	419	N>S		No	ClinGen gnomAD
rs751635755 CA1445210	425	P>S		No	ClinGen ExAC gnomAD
rs751635755 CA1445209	425	P>T		No	ClinGen ExAC gnomAD
CA345189544 rs1421537778	426	D>E		No	ClinGen TOPMed gnomAD
CA1445211 rs781270491	426	D>N		No	ClinGen ExAC gnomAD
rs1169077369 CA345189550	428	D>N		No	ClinGen gnomAD
rs770042472 CA1445213	433	S>A		No	ClinGen ExAC TOPMed gnomAD
CA1445214 rs567382344	433	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA1445215 rs114407584	434	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1445217 rs774852378	435	W>C		No	ClinGen ExAC gnomAD
TCGA novel	436	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345189606 rs1301990321	437	D>N		No	ClinGen TOPMed gnomAD
rs970619337 CA38836922	439	E>D		No	ClinGen gnomAD
CA1445219 COSM533291 rs764093845	439	E>K	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA1445221 rs776315929	442	E>A		No	ClinGen ExAC gnomAD
CA1445222 CA345189643 rs761530242	442	E>D		No	ClinGen ExAC TOPMed gnomAD
CA1445223 rs764989649	444	R>*		No	ClinGen ExAC TOPMed gnomAD
CA1445224 rs139709224	444	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA345189662 rs146345968	446	K>*		No	ClinGen ESP TOPMed gnomAD
rs146345968 CA38836936	446	K>E		No	ClinGen ESP TOPMed gnomAD
CA345189661 rs146345968	446	K>Q		No	ClinGen ESP TOPMed gnomAD
CA38836960 rs543194500	447	K>N		No	ClinGen Ensembl
CA38836950 rs935095826	447	K>T		No	ClinGen TOPMed gnomAD
TCGA novel	448	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1428126342 CA345189684	449	Q>R		No	ClinGen gnomAD
CA38836963 rs1052506937	450	E>V		No	ClinGen TOPMed
CA1445226 rs570285230	451	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1445227 rs751447190	452	L>F		No	ClinGen ExAC TOPMed gnomAD
CA345189700 rs751447190	452	L>I		No	ClinGen ExAC TOPMed gnomAD
CA345189703 rs1453606316	452	L>P		No	ClinGen gnomAD
CA38836975 rs989244915	453	I>L		No	ClinGen gnomAD
rs115399585 CA1445228	454	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs781217311 CA1445229 COSM1339968	454	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs752823556 CA1445230	455	T>S		No	ClinGen ExAC
CA38836994 rs915010117	457	F>L		No	ClinGen Ensembl
rs193921013 CA345189734	458	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1382645671 CA345189736	458	Q>R		No	ClinGen TOPMed
rs148908662 CA38837001	460	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1225718391 CA345189751	460	Y>F		No	ClinGen gnomAD
rs1351292141 CA345189747	460	Y>H		No	ClinGen gnomAD
TCGA novel	463	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201884349 CA1445233	464	R>*		No	ClinGen 1000Genomes ExAC gnomAD
CA345189774 rs535176841	464	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs535176841 CA1445234	464	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1445235 rs746340236	465	Q>R		No	ClinGen ExAC gnomAD
CA1445236 rs368576349	466	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1267581977 CA345189788	467	P>T		No	ClinGen gnomAD
CA1445238 COSM3377025 rs747719182	468	R>Q	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs776258757 CA1445237 COSM905306	468	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA345189806 rs1371931886	470	F>L		No	ClinGen TOPMed
CA1445243 rs766156241	472	E>D		No	ClinGen ExAC TOPMed gnomAD
rs772855980 CA1445240	472	E>K		No	ClinGen ExAC TOPMed gnomAD
CA1445241 rs772855980	472	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs763473884	474	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA38837041 rs147800865 CA345189838	475	G>R		No	ClinGen ESP TOPMed gnomAD
CA38837046 rs759447537 CA1445244	476	V>L		No	ClinGen ExAC TOPMed gnomAD
CA345189853 rs1302586098	477	I>M		No	ClinGen gnomAD
CA345189859 rs1355193670	478	C>F		No	ClinGen gnomAD
COSM1339969 CA1445245 rs767496560	479	R>C	large_intestine Variant assessed as Somatic; 0.0004625 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA1445246 rs752766281	479	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA345189865 rs752766281	479	R>L		No	ClinGen ExAC TOPMed gnomAD
CA38837053 rs150462724	480	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA1445248 rs764091387	480	P>L		No	ClinGen ExAC TOPMed gnomAD
CA345189868 rs764091387	480	P>R		No	ClinGen ExAC TOPMed gnomAD
rs150462724 CA1445247	480	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA345189873 rs1558164139	481	A>V		No	ClinGen Ensembl
CA1445249 rs754045407	488	P>S		No	ClinGen ExAC gnomAD
rs757455689 CA1445250	489	V>L		No	ClinGen ExAC gnomAD
CA345189927 rs1437893985	490	L>P		No	ClinGen TOPMed gnomAD
rs779393959 CA1445251	490	L>V		No	ClinGen ExAC TOPMed gnomAD
rs116617673 CA1445254	492	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1045488868 CA38837092	493	G>D		No	ClinGen Ensembl
CA1445257 rs772626014	494	P>H		No	ClinGen ExAC gnomAD
rs1003400097 CA38837130	496	T>A		No	ClinGen Ensembl
rs770535693 CA1445260	496	T>M		No	ClinGen ExAC TOPMed gnomAD
CA1445264 rs775347048	497	V>G		No	ClinGen ExAC gnomAD
rs115607184 CA1445263	497	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs115607184 CA1445262	497	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA345190272 rs1243574398	499	S>C		No	ClinGen gnomAD
CA1445266 rs764195455	499	S>P		No	ClinGen ExAC gnomAD
rs1340039158 CA345190291	502	L>R		No	ClinGen gnomAD
rs1558164213 CA345190297	503	L>P		No	ClinGen Ensembl
rs1215791374 CA345190299	504	E>K		No	ClinGen TOPMed gnomAD
CA1445269 rs765617129	506	P>L		No	ClinGen ExAC gnomAD
CA345190320 rs1436825951	507	P>L		No	ClinGen gnomAD
rs1203913715 CA345190331	509	Q>K		No	ClinGen TOPMed gnomAD
rs750816550 CA1445270	509	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	511	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1445273 rs747507860	513	T>M		No	ClinGen ExAC TOPMed gnomAD
CA345190365 rs1166179877	514	W>*		No	ClinGen gnomAD
CA345190370 rs1418931668	514	W>C		No	ClinGen gnomAD
CA38837161 rs946444483	514	W>R		No	ClinGen TOPMed
rs777312576 CA1445275	516	L>F		No	ClinGen ExAC gnomAD
CA1445276 rs748802716	517	V>A		No	ClinGen ExAC gnomAD
rs1285720933 CA345190382	517	V>M		No	ClinGen TOPMed
CA345190388 rs1404271312	518	L>V		No	ClinGen gnomAD
CA345190392 rs1439634843	519	E>Q		No	ClinGen TOPMed
CA345190420 rs1334775272	522	Q>R		No	ClinGen TOPMed
CA345190438 rs1333321579	525	V>I		No	ClinGen TOPMed gnomAD
CA1445278 rs770566065	526	L>F		No	ClinGen ExAC gnomAD
rs1432848272 CA345190454	527	P>L		No	ClinGen gnomAD
rs778470559 CA1445279	528	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA345190475 rs1363099301	530	Q>H		No	ClinGen TOPMed
CA1445280 rs745532173	531	S>I		No	ClinGen ExAC gnomAD
rs771804484 CA1445281	532	D>E		No	ClinGen ExAC
rs372899890 CA1445283	534	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA345190497 rs372899890	534	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1445285 rs776758551	535	M>T		No	ClinGen ExAC TOPMed gnomAD
rs761869050 CA1445286	536	A>V		No	ClinGen ExAC gnomAD
CA1445287 rs561094179	537	L>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1241532717 CA345190545	541	S>L		No	ClinGen gnomAD
CA1445290 rs374836506	542	L>P		No	ClinGen ESP ExAC gnomAD
rs751915154 CA1445291	543	S>I		No	ClinGen ExAC TOPMed gnomAD
CA345190554 rs751915154	543	S>N		No	ClinGen ExAC TOPMed gnomAD
CA345190555 rs1489882397	543	S>R		No	ClinGen TOPMed
CA345190564 rs1469503711	545	L>M		No	ClinGen gnomAD
rs202155723 CA1445293	547	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs377291192 CA1445294	549	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756697639 CA1445295	550	M>V		No	ClinGen ExAC gnomAD
rs371575042 CA1445296	552	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs745481389 CA1445297	553	M>L		No	ClinGen ExAC gnomAD
CA345190636 rs1353305184	555	S>I		No	ClinGen gnomAD
rs201438858 CA1445301	559	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768638606 CA345190664	559	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1445302 rs768638606	559	S>T		No	ClinGen ExAC TOPMed gnomAD
CA1445304 rs779203345	560	T>K		No	ClinGen ExAC TOPMed gnomAD
CA1445303 COSM3385882 rs779203345	560	T>M	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA345190684 rs552839312	563	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1445305 rs552839312	563	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1445306 rs773463411	564	I>V		No	ClinGen ExAC TOPMed gnomAD
rs763241595 CA1445307	565	V>L		No	ClinGen ExAC gnomAD
CA345190709 rs1425245693	567	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs777419343 CA1445308	567	R>W		No	ClinGen ExAC TOPMed gnomAD
CA345190720 rs1304388450	569	Q>R		No	ClinGen gnomAD
CA345190728 rs1385819720	570	C>F		No	ClinGen gnomAD
rs751944625 CA1445309	570	C>R		No	ClinGen ExAC gnomAD
CA345190736 CA1445312 rs753094510	571	M>I		No	ClinGen ExAC TOPMed gnomAD
CA1445311 rs369400580	571	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1309017558 CA345190746	572	M>I		No	ClinGen gnomAD
CA1445313 rs202053429	574	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1200200158 CA345190768	575	M>I		No	ClinGen TOPMed
rs150767483 CA1445316	576	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1445315 rs749985663	576	M>T		No	ClinGen ExAC gnomAD
CA1445314 rs778364626	576	M>V		No	ClinGen ExAC gnomAD
rs779639611 CA1445317	577	R>K		No	ClinGen ExAC TOPMed gnomAD
rs781066930 CA345190797	580	V>L		No	ClinGen ExAC gnomAD
rs781066930 CA1445320	580	V>M		No	ClinGen ExAC gnomAD
CA38837271 rs1028964619	581	Q>*		No	ClinGen TOPMed gnomAD
rs1165407586 CA345190813	582	P>R		No	ClinGen gnomAD
rs139168122 CA1445322	583	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140253441 CA1445323	585	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA345190824 rs140253441	585	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs771043392 CA1445325	588	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA345190842 rs1389354466	588	P>S		No	ClinGen TOPMed gnomAD
rs759826319 CA1445327	589	D>G		No	ClinGen ExAC gnomAD
CA1445326 rs377673575	589	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA345190859 rs1228213252	591	P>S		No	ClinGen gnomAD
rs1228213252 CA345190857	591	P>T		No	ClinGen gnomAD
rs1253167764 CA345190866	592	G>D	Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1253167764 CA345190868	592	G>V		No	ClinGen gnomAD
rs147789751 CA1445330	593	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1445332 rs749930507	594	E>D		No	ClinGen ExAC gnomAD
rs1571871023 CA345190874	594	E>K		No	ClinGen Ensembl
rs141203811 CA1445331	594	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	595	P>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1022562386 CA38837298	595	P>R		No	ClinGen TOPMed gnomAD
CA1445333 rs757841534	595	P>T		No	ClinGen ExAC gnomAD
CA38837302 rs988295359	600	Q>L		No	ClinGen TOPMed gnomAD
CA345190915 rs988295359	600	Q>R		No	ClinGen TOPMed gnomAD
CA1445335 rs751127003	601	K>N		No	ClinGen ExAC TOPMed gnomAD
rs113111317 CA38837305	601	K>R		No	ClinGen Ensembl
CA345190926 rs1374300736	602	V>F		No	ClinGen gnomAD
rs1571871067 CA345190929	602	V>G		No	ClinGen Ensembl
CA345190931 rs1405667388	603	S>G		No	ClinGen TOPMed
rs1571871077 CA345190937	603	S>R		No	ClinGen Ensembl
CA1445336 rs754692814	604	D>N		No	ClinGen ExAC gnomAD
CA1445337 rs151088064	606	V>M		No	ClinGen ESP ExAC
CA1445338 rs748010278	607	L>F		No	ClinGen ExAC TOPMed gnomAD
CA1445339 rs756113264	609	L>F		No	ClinGen ExAC TOPMed gnomAD
CA1445340 rs777782385	609	L>P		No	ClinGen ExAC gnomAD
rs1383296715 CA345190973	610	S>F		No	ClinGen gnomAD
CA345190982 COSM905307 rs1305849413	611	Y>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA1445343 rs141922636	611	Y>C		No	ClinGen ESP ExAC gnomAD
rs746045082 CA1445344	612	T>I		No	ClinGen ExAC gnomAD
CA1445345 rs369789421	614	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1475035188 CA345191006	615	Q>R		No	ClinGen TOPMed
CA345191015 rs1571871142	616	V>G		No	ClinGen Ensembl
CA345191018 rs1482849461	617	D>Y		No	ClinGen gnomAD
rs764447714 CA1445348	618	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA38837360 rs555951507	619	M>L		No	ClinGen 1000Genomes gnomAD
CA38837363 rs552443163	619	M>T		No	ClinGen TOPMed gnomAD
rs555951507 CA345191029	619	M>V		No	ClinGen 1000Genomes gnomAD
CA345191045 rs1470762518	621	S>G		No	ClinGen gnomAD
rs1174345150 CA345191054	622	L>*		No	ClinGen TOPMed gnomAD
CA38837366 rs777153451	623	N>H		No	ClinGen Ensembl
rs762409378 CA1445350	624	C>F		No	ClinGen ExAC gnomAD
CA1445349 rs144310036	624	C>R		No	ClinGen ESP ExAC gnomAD
CA1445351 rs765769342	625	S>R		No	ClinGen ExAC gnomAD
TCGA novel	626	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767343484 CA1445354	627	Y>*		No	ClinGen ExAC gnomAD
CA1445353 rs754571115	627	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1422359884 CA345191106	627	Y>H		No	ClinGen TOPMed gnomAD
CA38837384 rs771540972	628	H>P		No	ClinGen TOPMed
rs1270259976 CA345191120	628	H>Y		No	ClinGen TOPMed
CA38837390 rs746237231	629	S>C		No	ClinGen Ensembl
CA345191151 rs1347574815	630	M>I		No	ClinGen gnomAD
CA1445355 rs111686160	630	M>V		No	ClinGen Ensembl
rs373990671 CA1445358	632	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA38837405 rs895964108	634	L>V		No	ClinGen TOPMed
CA38837407 rs982450875	635	I>M		No	ClinGen TOPMed gnomAD
rs1311378957 CA345191204	635	I>T		No	ClinGen gnomAD
rs1015144628 CA38837412	638	A>V		No	ClinGen Ensembl
CA1445360 rs755911945	639	L>M		No	ClinGen ExAC TOPMed gnomAD
rs755911945 CA1445359	639	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1036836271 CA38837416	641	I>M		No	ClinGen TOPMed
rs115230066 CA1445361	642	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1169797554 CA345191291	644	L>F		No	ClinGen TOPMed
CA345191298 rs1189109688	645	P>A		No	ClinGen TOPMed gnomAD
CA1445363 rs144542349	645	P>R		No	ClinGen ESP ExAC gnomAD
CA345191299 rs1189109688	645	P>S		No	ClinGen TOPMed gnomAD
CA1445365 rs535197034	646	S>L	Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs115626805 CA1445367	648	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1445368 rs768964936	649	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1367545921 CA345191358	650	G>D		No	ClinGen gnomAD
CA1445370 rs200567566	652	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA345191392 rs1203246730	653	T>K		No	ClinGen TOPMed
CA345191415 rs1352880987	655	H>L		No	ClinGen gnomAD
CA345191413 rs1558164823	655	H>Y		No	ClinGen Ensembl
rs1203475250 CA345191438	656	W>*		No	ClinGen gnomAD
COSM905308 CA345191486 rs1291792536	659	I>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA1445375 rs752347993	659	I>T		No	ClinGen ExAC TOPMed
CA345191474 rs1239339656	659	I>V		No	ClinGen gnomAD
CA345191538 rs1372421431	663	T>K		No	ClinGen TOPMed
TCGA novel	666	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1245737123 CA345191582	667	S>C		No	ClinGen TOPMed gnomAD
TCGA novel	669	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763949413 CA1445378	671	T>A		No	ClinGen ExAC TOPMed gnomAD
rs753714425 CA1445379	671	T>I		No	ClinGen ExAC
CA345191645 rs1179278162	672	Y>C		No	ClinGen gnomAD
CA1445380 rs757129969	673	C>G		No	ClinGen ExAC gnomAD
CA1445381 rs142412875	675	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs750332993 CA1445382	676	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs750332993 CA38837503	676	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1176214685 CA345191688	678	Y>F		No	ClinGen TOPMed
CA1445387 rs78745401	681	K>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1253342311 CA345191717	682	M>I		No	ClinGen TOPMed
TCGA novel	684	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA38837508 rs960394614	686	L>S		No	ClinGen TOPMed
rs1186346583 CA345191758	688	Q>*		No	ClinGen gnomAD
rs1571871453 CA345191771	690	S>C		No	ClinGen Ensembl
CA345191770 rs1571871453	690	S>G		No	ClinGen Ensembl
rs1490322548 CA345191782	691	F>S		No	ClinGen TOPMed
rs770055647 CA1445391	692	R>Q		No	ClinGen ExAC gnomAD
rs540856421 CA1445390 COSM3710637	692	R>W	upper_aerodigestive_tract breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA1445392 rs773705894	693	S>P		No	ClinGen ExAC gnomAD
CA345191800 rs1361551986	694	E>D		No	ClinGen gnomAD
rs1226094302 CA345191815	697	I>V		No	ClinGen gnomAD
CA345191827 rs373850787	698	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs771667340 CA1445394	699	S>N		No	ClinGen ExAC gnomAD
CA345191840 rs1206200721	700	L>W		No	ClinGen gnomAD
CA1445395 rs775180318	701	R>M		No	ClinGen ExAC gnomAD
rs760379000 CA1445396 COSM220342	702	C>R	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA1445398 rs574261258 COSM1231887	703	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA1445399 rs761604564	704	A>T		No	ClinGen ExAC gnomAD
CA1445400 rs201484207	706	F>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1445401 rs750326524	707	I>L		No	ClinGen ExAC gnomAD
CA345191898 rs1168781859	709	G>A		No	ClinGen gnomAD
rs1411813591 CA345191896	709	G>C		No	ClinGen gnomAD
CA345191895 rs1411813591	709	G>R		No	ClinGen gnomAD
CA345191897 rs1168781859	709	G>V		No	ClinGen gnomAD
rs751690667 CA1445404	711	G>A		No	ClinGen ExAC TOPMed gnomAD
rs766418598 CA1445403	711	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	712	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345191915 rs1338675371	712	R>S		No	ClinGen gnomAD
TCGA novel	713	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA38837540 rs201480017	714	S>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	714	S>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1445406 rs201480017	714	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs889115650 CA38837542	716	N>H		No	ClinGen TOPMed gnomAD
rs1362022413 CA345191941	716	N>S		No	ClinGen gnomAD
CA38837544 rs1015280416	717	Q>R		No	ClinGen gnomAD
rs370534738 CA1445408	719	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA1445411 rs778029637	720	T>A		No	ClinGen ExAC gnomAD
CA1445412 rs116499130	720	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778029637 CA1445410	720	T>S		No	ClinGen ExAC gnomAD
rs760647671 CA1445415	722	S>C		No	ClinGen ExAC TOPMed
rs760647671 CA38837571	722	S>F		No	ClinGen ExAC TOPMed
rs1571871613 CA345191978	723	W>R		No	ClinGen Ensembl
CA345191990 rs1571871623	724	D>G		No	ClinGen Ensembl
rs1324418546 CA345191997	725	G>D		No	ClinGen TOPMed gnomAD
rs761394804 CA1445417	726	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA345192007 rs1260500240	727	V>I		No	ClinGen TOPMed
rs1191650947 CA345192013	728	G>R		No	ClinGen gnomAD
TCGA novel	728	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148570104 CA1445418	730	V>L		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	732	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772925660 CA1445420	734	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1206103643 CA345192059	735	Y>H		No	ClinGen TOPMed gnomAD
rs751500106 CA1445423	736	P>L		No	ClinGen ExAC gnomAD
rs766365463 CA345192067	736	P>S		No	ClinGen ExAC TOPMed gnomAD
rs766365463 CA1445422	736	P>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	740	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1445424 rs754990859	741	H>P		No	ClinGen ExAC
rs1223748485 CA345192115	743	I>N		No	ClinGen gnomAD
CA1445425 rs181237749	743	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1276918853 CA345192120	744	V>L		No	ClinGen gnomAD
rs752921090 CA345192132	746	N>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs752921090 CA345192131	746	N>H		No	ClinGen ExAC TOPMed gnomAD
rs1200310790 CA345192136	746	N>K		No	ClinGen gnomAD
rs752921090 CA1445426	746	N>Y		No	ClinGen ExAC TOPMed gnomAD
CA1445427 rs560133961	747	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	749	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs528769721 CA1445429	749	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1359680563 CA345192154	749	I>T		No	ClinGen TOPMed
CA345192161 rs1214482584	750	L>F		No	ClinGen gnomAD
CA1445430 rs757833983	751	I>V		No	ClinGen ExAC TOPMed gnomAD
rs779497345 CA1445431	752	S>T		No	ClinGen ExAC TOPMed gnomAD
CA1445434 rs768164250	753	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs368390658 CA1445436	755	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA345192197 rs1295730249	756	P>L		No	ClinGen gnomAD
rs1421471222 CA345192193	756	P>S		No	ClinGen gnomAD
rs115404211 CA1445437	757	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1405092095 CA345192207	758	D>N		No	ClinGen gnomAD
CA345192206 rs1405092095	758	D>Y		No	ClinGen gnomAD
rs1558165123 CA345192216	759	V>G		No	ClinGen Ensembl
rs773049123 CA1445438	759	V>L		No	ClinGen ExAC TOPMed gnomAD
CA1445439 rs773049123	759	V>M		No	ClinGen ExAC TOPMed gnomAD
CA345192225 rs1466491287	761	Y>D		No	ClinGen TOPMed
TCGA novel	764	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1334431992 CA345192251	765	V>F		No	ClinGen Ensembl
CA345192261 rs1232963872	767	L>M		No	ClinGen gnomAD
rs774220802 CA1445441	767	L>R		No	ClinGen ExAC gnomAD
CA1445442 rs759496922	768	R>*		No	ClinGen ExAC gnomAD
rs1257822906 CA345192275	769	T>I		No	ClinGen TOPMed
rs767601896 CA1445443	769	T>S		No	ClinGen ExAC gnomAD
rs568685264 CA345192286	771	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1445445 rs568685264	771	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752767670 CA1445444	771	P>S		No	ClinGen ExAC TOPMed gnomAD
CA345192283 rs752767670	771	P>T		No	ClinGen ExAC TOPMed gnomAD
CA1445447 rs754118189	773	G>D		No	ClinGen ExAC gnomAD
TCGA novel	776	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1445448 rs757639897	777	E>K		No	ClinGen ExAC gnomAD
CA1445449 VAR_034031 rs3811473	778	V>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs750922501 CA1445450	779	S>*		No	ClinGen ExAC TOPMed gnomAD
CA345192339 rs750922501	779	S>L		No	ClinGen ExAC TOPMed gnomAD
rs114432076 CA38837690	780	I>T		No	ClinGen 1000Genomes
rs1156762841 CA345192361	782	E>D		No	ClinGen TOPMed gnomAD
CA345192386 rs1334288352	786	I>V		No	ClinGen TOPMed
CA1445452 rs780733911	787	T>R		No	ClinGen ExAC gnomAD
CA1445453 rs747674189	788	L>V		No	ClinGen ExAC gnomAD
CA345192400 rs753761279	789	E>K		No	ClinGen TOPMed gnomAD
rs753761279 CA38837715	789	E>Q		No	ClinGen TOPMed gnomAD
CA345192420 rs777345928	791	I>M		No	ClinGen ExAC TOPMed gnomAD
CA38837720 rs1003949639	791	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	791	I>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA38837727 rs930854380	792	S>P		No	ClinGen TOPMed gnomAD
rs1459992599 CA345192433	793	K>N		No	ClinGen TOPMed
CA345192437 rs1309131287	794	A>G		No	ClinGen TOPMed gnomAD
CA1445456 rs538675658	794	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1445458 rs199984745	797	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1445460 rs771958746	798	S>R		No	ClinGen ExAC gnomAD
rs898150227 CA38837741	798	S>R		No	ClinGen Ensembl
rs1241683893 CA345192468	799	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA1445461 rs775635453	800	L>F		No	ClinGen ExAC gnomAD
rs1240328743 CA345192475	800	L>P		No	ClinGen gnomAD
CA1445462 rs760604126	801	F>L		No	ClinGen ExAC TOPMed gnomAD
rs754064819 CA1445464	804	M>L		No	ClinGen ExAC TOPMed gnomAD
CA1445465 rs762159600	804	M>T		No	ClinGen ExAC gnomAD
rs765667904 CA1445466	805	Q>*		No	ClinGen ExAC gnomAD
CA1445467 rs750869607	805	Q>H		No	ClinGen ExAC gnomAD
CA345192516 rs1168131394	806	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1445469 rs780496424	807	L>F		No	ClinGen ExAC TOPMed gnomAD
CA1445471 rs752117755	810	A>T		No	ClinGen ExAC gnomAD
CA38837768 rs1028285002	810	A>V		No	ClinGen Ensembl
CA1445472 rs754746904	811	F>C		No	ClinGen ExAC TOPMed gnomAD
rs754746904 CA345192544	811	F>S		No	ClinGen ExAC TOPMed gnomAD
rs372149013 CA1445474	812	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1310585294 CA345192558	813	T>M		No	ClinGen TOPMed gnomAD
CA1445476 rs778664697	814	C>S		No	ClinGen ExAC gnomAD
rs368807322 CA1445478	815	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA1445481 rs752466623	818	S>G		No	ClinGen ExAC gnomAD
CA1445482 rs776893100	822	I>V		No	ClinGen ExAC gnomAD
CA1445484 rs765615188	823	L>P		No	ClinGen ExAC gnomAD
CA345192634 rs1432159454	825	S>F		No	ClinGen TOPMed
rs554418897 CA1445486	825	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1170326233 CA345192639	826	G>A		No	ClinGen gnomAD
CA1445488 rs751966226	827	A>S		No	ClinGen ExAC gnomAD
CA345192648 rs1467951003	828	Q>*		No	ClinGen gnomAD
rs755547065 CA1445489	829	R>C		No	ClinGen ExAC gnomAD
CA1445490 rs763569076	829	R>H		No	ClinGen ExAC gnomAD
CA345192661 rs1382829680	830	D>A		No	ClinGen gnomAD
rs979457853 CA38837830	831	S>A		No	ClinGen TOPMed
rs753402625 CA1445491	831	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1445492 rs756897164	832	G>S		No	ClinGen ExAC gnomAD
CA345192698 rs1218254357	836	Q>R		No	ClinGen gnomAD
CA345192705 rs1277270961	837	Q>*		No	ClinGen gnomAD
TCGA novel	840	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1445493 rs778470642	840	W>C		No	ClinGen ExAC gnomAD
CA345192732 rs1212023054	841	L>V		No	ClinGen gnomAD
rs1254151663 CA345192754	844	K>E		No	ClinGen gnomAD
CA1445494 rs745547316	845	D>G		No	ClinGen ExAC TOPMed gnomAD
CA1445495 rs758079967	846	H>D		No	ClinGen ExAC gnomAD
CA1445497 rs758079967	846	H>N		No	ClinGen ExAC gnomAD
rs768764374 CA1445498	846	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs758079967 CA1445496	846	H>Y		No	ClinGen ExAC gnomAD
RCV000894532 CA1445499 rs116500601	847	M>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1445500 rs116500601	847	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA345192789 rs1192459279	849	V>A		No	ClinGen gnomAD
CA1445502 rs773255042	850	G>R		No	ClinGen ExAC gnomAD
rs1482770567 CA345192800	851	H>R		No	ClinGen TOPMed
rs1250655619 CA345192804	852	W>R		No	ClinGen TOPMed gnomAD
CA345192828 rs1174463507	854	N>K		No	ClinGen gnomAD
rs1377514107 CA345192832	855	R>T		No	ClinGen gnomAD
rs896207550 CA345192839	856	F>S		No	ClinGen TOPMed gnomAD
CA38837857 rs896207550	856	F>Y		No	ClinGen TOPMed gnomAD
rs763262565 CA1445503	857	A>G		No	ClinGen ExAC gnomAD
CA38837864 rs3811474	858	K>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1445504 rs3811474	858	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA38837870 rs3811474	858	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA345192849 rs1399540457	858	K>R		No	ClinGen gnomAD
rs1285599714 CA345192875	862	E>A		No	ClinGen TOPMed
CA1445506 rs759945900 COSM414576	862	E>K	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1298962057 CA345192880	863	G>S		No	ClinGen TOPMed gnomAD
CA345192884 rs768077441 CA1445507	864	I>L		No	ClinGen ExAC TOPMed gnomAD
rs768077441 CA1445508	864	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1266224257 CA345192891	865	E>K		No	ClinGen TOPMed gnomAD
rs1364289604 CA345192906	867	R>K		No	ClinGen TOPMed
TCGA novel	868	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA38837908 rs1015227164	870	I>V		No	ClinGen TOPMed gnomAD
rs1240800931 CA345192933	871	A>V		No	ClinGen TOPMed gnomAD
CA1445510 rs557468587	872	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1558165491 CA345192950	873	N>K		No	ClinGen Ensembl
CA345192947 rs1393237975	873	N>S		No	ClinGen TOPMed
CA1445511 rs577261788	874	L>F		No	ClinGen 1000Genomes ExAC
rs376650301 CA1445512	875	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1445513 rs546204425	876	S>P		No	ClinGen 1000Genomes ExAC
CA1445515 rs746882360	878	V>G		No	ClinGen ExAC gnomAD
CA1445514 rs779692970	878	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	881	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1445517 rs781213604	884	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1440788461 CA345193022	885	Q>R		No	ClinGen gnomAD
rs748112444 CA1445518	886	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA1445519 rs367940734	892	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs773378386 CA1445520	893	S>R		No	ClinGen ExAC gnomAD
CA1445522 rs771239613	895	L>V		No	ClinGen ExAC gnomAD
rs952203023 CA38837954	897	L>V		No	ClinGen TOPMed
rs1291513075 CA345193114	899	E>A		No	ClinGen TOPMed gnomAD
CA345193152 rs114156610	905	Q>*		No	ClinGen 1000Genomes ExAC TOPMed
rs114156610 CA1445524	905	Q>E		No	ClinGen 1000Genomes ExAC TOPMed
CA345193151 rs114156610	905	Q>K		No	ClinGen 1000Genomes ExAC TOPMed
rs542562128 CA345193161	906	L>P		No	ClinGen 1000Genomes gnomAD
CA38837974 rs542562128	906	L>R		No	ClinGen 1000Genomes gnomAD
CA345193159 rs1168160548	906	L>V		No	ClinGen TOPMed gnomAD
TCGA novel	907	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345193174 rs1437797919 COSM1501203	908	S>I	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA345193179 rs772439778	909	L>F		No	ClinGen ExAC TOPMed gnomAD
rs772439778 CA1445525	909	L>V		No	ClinGen ExAC TOPMed gnomAD
CA1445527 rs150527379	913	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1445529 rs761203373	914	H>R		No	ClinGen ExAC gnomAD
rs1407052760 CA345193234	917	Y>C		No	ClinGen gnomAD
CA345193252 rs372919968	920	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1445531 rs372919968	920	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA38837986 rs945408064	921	L>F		No	ClinGen TOPMed
CA1445532 rs762500681	924	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1439655196 CA345193275	924	M>V		No	ClinGen gnomAD
CA1445535 rs751178377	926	V>F		No	ClinGen ExAC TOPMed gnomAD
CA1445534 rs751178377	926	V>I		No	ClinGen ExAC TOPMed gnomAD
CA345193292 rs1164334802	927	T>P		No	ClinGen TOPMed gnomAD
CA345193299 rs1268382298	928	K>E		No	ClinGen TOPMed
CA38838019 rs1043631049	928	K>R		No	ClinGen TOPMed gnomAD
CA345193313 rs1441399847	930	G>E		No	ClinGen gnomAD
rs752646352 CA1445537	931	C>S		No	ClinGen ExAC gnomAD
rs1306087097 CA345193331	933	C>G		No	ClinGen TOPMed gnomAD
rs531177299 CA1445538	935	S>F		No	ClinGen 1000Genomes ExAC gnomAD
CA38838028 rs1002393606	937	L>P		No	ClinGen Ensembl
rs1558165684 CA345193360	938	A>S		No	ClinGen Ensembl
TCGA novel	938	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345193366 rs1288663443	939	L>F		No	ClinGen TOPMed gnomAD
CA345193374 rs1366296955	940	K>R		No	ClinGen TOPMed
CA345193382 rs1318181069	941	F>S		No	ClinGen TOPMed gnomAD
CA345193390 rs1358708814	942	L>W		No	ClinGen TOPMed
CA345193396 rs749450816	943	T>K		No	ClinGen ExAC TOPMed gnomAD
CA1445541 rs749450816	943	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1558165727 CA345193405	945	C>S		No	ClinGen Ensembl
rs746110112 CA1445544	945	C>W		No	ClinGen ExAC gnomAD
CA1445545 rs772386752	948	L>I		No	ClinGen ExAC
rs1013329097 CA38838046	950	G>R		No	ClinGen TOPMed
rs149700427 CA1445546	951	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA345193454 rs1190170371	952	L>W		No	ClinGen TOPMed
CA345193467 rs1487903200	954	K>E		No	ClinGen TOPMed gnomAD
rs1210244657 CA345193476	955	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
COSM73210 rs1397869452 CA345193473	955	G>R	ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA1445548 rs769266055	956	K>E		No	ClinGen ExAC gnomAD
CA345193487 rs1443591241	957	S>G		No	ClinGen TOPMed
TCGA novel	957	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1360868280 CA345193496	958	A>T		No	ClinGen gnomAD
CA38838080 rs866307697	959	R>C		No	ClinGen TOPMed gnomAD
rs1445145419 CA345193502	959	R>H		No	ClinGen TOPMed gnomAD
CA345193509 rs1553274488	960	S>C		No	ClinGen Ensembl
rs762460805 CA1445550	960	S>P		No	ClinGen ExAC gnomAD
rs765824411 CA1445551	962	F>L		No	ClinGen ExAC
CA345193518 rs1275972661	962	F>V		No	ClinGen gnomAD
rs1553274491 CA345193525	963	K>*		No	ClinGen Ensembl
CA38838098 rs896802842	965	M>R		No	ClinGen TOPMed
rs1339129680 CA345193539	965	M>V		No	ClinGen gnomAD
TCGA novel	967	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1445553 rs759298857	969	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1445552 rs202024489	969	D>H		No	ClinGen ExAC gnomAD
rs1303597382 CA345193613	975	L>P		No	ClinGen TOPMed
CA345193622 rs1450317261	977	S>A		No	ClinGen TOPMed
CA1445557 rs755999299	982	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1423265548 CA345193662	983	S>G		No	ClinGen gnomAD
CA1445559 rs753731601	983	S>N		No	ClinGen ExAC gnomAD
CA345193670 rs1429008634	984	R>K		No	ClinGen TOPMed
CA345193693 rs1427128517	987	I>T		No	ClinGen gnomAD
rs778890308 CA1445561	989	M>I		No	ClinGen ExAC gnomAD
rs1558165843 CA345193707	989	M>K		No	ClinGen Ensembl
CA345193716 rs1360587954	990	D>G		No	ClinGen TOPMed gnomAD
rs1412646663 CA345193729	992	P>A		No	ClinGen TOPMed
rs143248552 CA1445563	993	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1248973208 CA345193744	994	W>*		No	ClinGen TOPMed
rs1205139253 CA345193750	995	L>Q		No	ClinGen TOPMed
TCGA novel	998	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1483652021 CA345193791	1001	I>V		No	ClinGen TOPMed
CA1445566 rs747442347	1002	G>V		No	ClinGen ExAC TOPMed gnomAD
CA38838154 rs913997929	1003	T>A		No	ClinGen TOPMed
CA1445568 rs148305729	1003	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1214594648 CA345193821	1006	E>Q		No	ClinGen gnomAD
rs1349322693 CA345193831	1007	E>A		No	ClinGen gnomAD
CA345193839 rs1262718990	1008	L>P		No	ClinGen gnomAD
CA1445571 rs774049550	1009	M>V		No	ClinGen ExAC gnomAD
CA345193857 rs1553274522	1011	M>L		No	ClinGen Ensembl
CA345193882 rs1248253972	1014	Q>P		No	ClinGen gnomAD
CA1445572 rs759247481	1015	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1476952075 CA345193889	1015	M>V		No	ClinGen gnomAD
CA38838185 rs939798245	1016	K>M		No	ClinGen TOPMed gnomAD
rs939798245 CA345193899	1016	K>R		No	ClinGen TOPMed gnomAD
TCGA novel	1018	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs147072129 CA1445574	1018	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs760459899 CA1445575	1022	N>S		No	ClinGen ExAC gnomAD
CA345193935 rs1371119567	1022	N>Y		No	ClinGen TOPMed
TCGA novel	1023	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345193977 rs1329701280	1026	I>L		No	ClinGen TOPMed gnomAD
rs937878560 CA38838195	1027	T>A		No	ClinGen TOPMed
rs749560704 CA1445577	1028	A>S		No	ClinGen ExAC TOPMed gnomAD
CA38838209 rs749560704	1028	A>T		No	ClinGen ExAC TOPMed gnomAD
CA1445579 rs765278975	1029	F>L		No	ClinGen ExAC gnomAD
TCGA novel	1029	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs931067154 CA38838219	1030	L>F		No	ClinGen gnomAD
rs750561805 CA1445580	1030	L>H		No	ClinGen ExAC gnomAD
CA1445581 rs758617723	1031	S>F		No	ClinGen ExAC TOPMed gnomAD
rs780185806 CA1445582	1032	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1472606622 CA345194027	1032	S>R		No	ClinGen TOPMed
CA1445583 rs747248291	1033	S>F		No	ClinGen ExAC gnomAD
rs199817676 CA1445584	1035	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs781445818 CA1445585	1036	Y>N		No	ClinGen ExAC gnomAD
CA38838228 rs748662594	1037	T>K		No	ClinGen ExAC TOPMed gnomAD
CA1445586 rs748662594	1037	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1267697769 CA345194109	1040	A>G		No	ClinGen TOPMed
CA1445588 rs370047007	1040	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1040	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1571872937 CA345194139	1043	K>R		No	ClinGen Ensembl
TCGA novel	1046	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372465680 CA1445591	1049	N>S		No	ClinGen ESP ExAC gnomAD
rs1352351664 CA345194231	1051	Q>L		No	ClinGen TOPMed
TCGA novel	1051	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1403036354 CA345194258	1054	Q>*		No	ClinGen gnomAD
CA38838234 rs111515714	1058	V>A		No	ClinGen Ensembl
CA345194295 CA345194296 rs1445230558	1058	V>L		No	ClinGen gnomAD
CA38838238 rs375788834	1059	S>A		No	ClinGen ESP TOPMed gnomAD
rs1366707805 CA345194309	1059	S>C		No	ClinGen TOPMed
CA345194323 rs1293867828	1061	T>A		No	ClinGen TOPMed
rs763918387 CA1445593	1061	T>I		No	ClinGen ExAC gnomAD
CA1445594 rs763918387	1061	T>S		No	ClinGen ExAC gnomAD
CA38838257 rs766210522	1063	L>F		No	ClinGen TOPMed
CA345194368 rs1282618620	1065	H>L		No	ClinGen TOPMed gnomAD
rs1282618620 CA345194366 COSM326826	1065	H>R	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
TCGA novel	1067	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1334464495 CA345194391	1068	G>*		No	ClinGen gnomAD
CA1445595 rs761798616	1068	G>E		No	ClinGen ExAC gnomAD
CA1445597 rs750366489	1069	P>S		No	ClinGen ExAC gnomAD
COSM1339972 rs758418401 CA345194410	1070	F>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1010124627 COSM1339973 CA38838266	1070	F>S	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs766471616 CA1445599	1071	L>H		No	ClinGen ExAC gnomAD
CA1445601 rs143266468	1078	Q>*		No	ClinGen ESP ExAC
CA345194487 rs1558166056	1078	Q>P		No	ClinGen Ensembl
rs199600020 CA1445602	1079	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1366302765 CA345194506	1080	A>T		No	ClinGen gnomAD
rs1474694785 CA345194511	1080	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1445603 rs753066037	1082	A>V		No	ClinGen ExAC gnomAD
CA345194545 rs1174640882	1084	L>P		No	ClinGen TOPMed
rs139656109 CA1445604	1085	S>P		No	ClinGen ESP ExAC gnomAD
CA345194585 rs1298075946	1089	Q>*		No	ClinGen gnomAD
rs146627260 CA1445606	1091	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1445607 rs749833401	1092	V>M		No	ClinGen ExAC gnomAD
rs779751111 CA1445609	1093	L>P		No	ClinGen ExAC gnomAD
rs746651392 CA1445610	1095	T>A		No	ClinGen ExAC gnomAD
rs1247656533 CA345194664	1097	A>G		No	ClinGen TOPMed
CA1445611 rs768252570	1100	Q>H		No	ClinGen ExAC gnomAD
rs558809550 CA38838344	1100	Q>L		No	ClinGen Ensembl
rs776481660 CA1445612	1101	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1483550257 COSM414575 CA345194716	1103	S>L	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs761904538 CA1445615	1105	P>L		No	ClinGen ExAC TOPMed gnomAD
CA1445614 rs537297397	1105	P>T		No	ClinGen 1000Genomes ExAC gnomAD
CA1445618 rs766418966	1106	G>R		No	ClinGen ExAC TOPMed gnomAD
CA1445617 rs766418966	1106	G>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA345194746 rs370356535	1107	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs370356535 CA1445620	1107	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA1445621 rs370356535	1107	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA1445623 rs376646931	1108	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA1445622 rs372842677	1108	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA1445625 rs757887321	1109	G>D		No	ClinGen ExAC gnomAD
rs776441138 CA38838404	1109	G>R		No	ClinGen ExAC gnomAD
CA1445624 rs776441138	1109	G>S		No	ClinGen ExAC gnomAD
rs115286310 CA1445627	1111	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1445628 rs116064886 RCV000894533	1111	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA345194804 rs1343579375	1113	P>L		No	ClinGen TOPMed gnomAD
CA38838440 rs961333831	1114	S>L		No	ClinGen TOPMed gnomAD
rs1571873197 CA345194808	1114	S>P		No	ClinGen Ensembl
rs1312636343 CA345194816	1115	V>L		No	ClinGen gnomAD
rs1408699644 CA345194835	1117	I>F		No	ClinGen TOPMed gnomAD
CA1445637 rs770917791	1120	V>F		No	ClinGen ExAC
rs770917791 CA38838469	1120	V>I		No	ClinGen ExAC
rs774346129 CA1445638	1121	S>T		No	ClinGen ExAC TOPMed gnomAD
rs553475393 CA1445639	1122	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs553475393 CA345194887	1122	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767655144 CA1445640	1124	L>S		No	ClinGen ExAC TOPMed gnomAD
CA345194901 rs1268509299	1124	L>V		No	ClinGen gnomAD
rs147696530 CA1445642	1125	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1056742697 CA38838546	1127	D>E		No	ClinGen TOPMed gnomAD
CA345194928 rs1571873290	1127	D>G		No	ClinGen Ensembl
CA345194924 rs1160555714	1127	D>N		No	ClinGen TOPMed gnomAD
TCGA novel	1128	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754197645 CA1445644	1129	G>C		No	ClinGen ExAC gnomAD
CA345194978 rs1388337266	1134	D>E		No	ClinGen gnomAD
rs1553274626 CA345194976	1134	D>G		No	ClinGen Ensembl
rs199940400 CA1445646	1134	D>N		No	ClinGen ExAC TOPMed gnomAD
CA1445647 rs750927633	1135	G>A		No	ClinGen ExAC TOPMed gnomAD
rs754493494 CA1445648	1136	G>E		No	ClinGen ExAC gnomAD
CA1445650 COSM905316 rs747826493	1138	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1571873328 CA345195007	1139	I>S		No	ClinGen Ensembl
rs755709966 CA1445651	1140	S>T		No	ClinGen ExAC TOPMed gnomAD
CA1445652 rs777553822	1140	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs1558166252 CA345195014	1141	Q>E		No	ClinGen Ensembl
rs904016280 CA38838581	1141	Q>R		No	ClinGen Ensembl
rs1265735546 CA345195023	1142	G>E		No	ClinGen TOPMed gnomAD
CA1445655 rs774207720	1144	D>N		No	ClinGen ExAC gnomAD
rs774207720 CA345195034	1144	D>Y		No	ClinGen ExAC gnomAD
CA1445656 rs562416599	1145	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1445657 rs772077077	1145	R>M		No	ClinGen ExAC gnomAD
CA1445659 rs141779194 COSM464123	1146	T>M	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA345195050 rs141779194	1146	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA345195054 rs1462774898	1147	L>P		No	ClinGen gnomAD
CA1445660 rs764344314	1150	H>R		No	ClinGen ExAC gnomAD
TCGA novel	1150	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1405860330 CA345195075	1151	V>I		No	ClinGen gnomAD
CA345195100 rs1312965390	1154	Y>*		No	ClinGen gnomAD
rs1222751716 CA345195097	1154	Y>C		No	ClinGen gnomAD
rs1323173049 CA345195111	1156	G>C		No	ClinGen TOPMed gnomAD
TCGA novel	1156	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1323173049 CA345195110	1156	G>R		No	ClinGen TOPMed gnomAD
COSM905318 rs1323173049 CA345195109	1156	G>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA1445663 rs765611287	1156	G>V		No	ClinGen ExAC gnomAD
rs1407412023 CA345195115	1157	V>I		No	ClinGen TOPMed
CA345195139 rs1458561165	1160	Q>R		No	ClinGen gnomAD
CA345195148 rs1201060978	1161	I>M		No	ClinGen gnomAD
CA1445664 rs750930595	1167	A>P		No	ClinGen ExAC gnomAD
CA345195182 rs750930595	1167	A>T		No	ClinGen ExAC gnomAD
CA1445667 rs752140875	1169	A>E		No	ClinGen ExAC TOPMed gnomAD
CA345195195 rs752140875	1169	A>G		No	ClinGen ExAC TOPMed gnomAD
CA1445666 COSM1473587 rs766954381	1169	A>T	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA1445668 rs752140875	1169	A>V		No	ClinGen ExAC TOPMed gnomAD
rs565398741 CA1445670	1171	H>R		No	ClinGen 1000Genomes ExAC gnomAD
CA345195241 COSM414572 rs1458581018	1176	Q>*	urinary_tract [Cosmic]	No	ClinGen cosmic curated TOPMed
CA1445671 rs368759566	1178	A>G		No	ClinGen ESP ExAC gnomAD
rs1558166392 CA345337529	1178	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1420159872 CA345337534	1179	L>M		No	ClinGen TOPMed
CA1445672 rs371376380	1180	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA39229918 rs752521584	1181	F>Y		No	ClinGen Ensembl
rs1440776616 CA345337566	1183	T>S		No	ClinGen gnomAD
rs771987836 CA1445675	1185	F>L		No	ClinGen ExAC gnomAD
CA345337581 rs1231090090	1186	F>L		No	ClinGen gnomAD
rs75154981 CA39229920	1187	L>F		No	ClinGen Ensembl
CA1445677 rs747151648	1189	P>S		No	ClinGen ExAC gnomAD
rs1439412021 CA345337610	1190	E>V		No	ClinGen TOPMed
rs768842004 CA1445678	1191	L>P		No	ClinGen ExAC TOPMed gnomAD
CA345337616 rs768842004	1191	L>R		No	ClinGen ExAC TOPMed gnomAD
CA1445679 rs777040476	1192	H>Y		No	ClinGen ExAC gnomAD
rs1484764364 CA345337631	1194	K>E		No	ClinGen TOPMed gnomAD
CA345337630 rs1484764364	1194	K>Q		No	ClinGen TOPMed gnomAD
rs559308931 CA39229921	1194	K>R		No	ClinGen Ensembl
rs762062367 CA1445680	1196	D>Y		No	ClinGen ExAC gnomAD
rs765548256 CA1445681	1197	S>P		No	ClinGen ExAC gnomAD
rs367758088 CA1445683	1198	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1325563551 CA345337677	1201	S>P		No	ClinGen gnomAD
rs1289603700 CA345337684	1202	M>V		No	ClinGen TOPMed
CA345337703 rs945739471	1204	H>L		No	ClinGen TOPMed gnomAD
rs945739471 CA39229923	1204	H>R		No	ClinGen TOPMed gnomAD
rs1444978794 CA345337700	1204	H>Y		No	ClinGen TOPMed
rs1558166491 CA345337711	1205	S>F		No	ClinGen Ensembl
CA1445685 rs749549072	1208	R>M		No	ClinGen ExAC gnomAD
CA1445686 rs752052805	1209	V>I		No	ClinGen ExAC gnomAD
rs1311873364 CA345337744	1211	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1433273209 CA345337751	1212	D>N		No	ClinGen gnomAD
CA1445705 rs774882433	1213	P>T		No	ClinGen ExAC gnomAD
CA1445706 rs759999479	1216	P>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1216	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1192364682 CA345337803	1217	V>A		No	ClinGen Ensembl
CA1445707 rs763619316	1219	V>I		No	ClinGen ExAC TOPMed gnomAD
rs925149822 CA39230545	1221	Q>R		No	ClinGen TOPMed
CA39230546 rs753287753	1222	D>A		No	ClinGen ExAC gnomAD
COSM533276 CA1445708 rs753287753	1222	D>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA345337832 rs1420598186	1222	D>Y		No	ClinGen gnomAD
TCGA novel	1228	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1254768878 CA345337883	1229	A>D		No	ClinGen TOPMed gnomAD
CA39230547 rs936627863	1229	A>T		No	ClinGen TOPMed
TCGA novel	1231	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs937750503 CA39230548	1234	M>T		No	ClinGen TOPMed gnomAD
CA1445710 rs761376386	1234	M>V		No	ClinGen ExAC gnomAD
rs1050178054 CA39230549	1235	L>S		No	ClinGen Ensembl
CA345337928 rs1380362634	1236	E>K		No	ClinGen gnomAD
rs1558168461 CA345337938	1237	V>A		No	ClinGen Ensembl
rs199788278 CA39230550	1239	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA1445711 rs199788278	1239	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs199788278 CA345337949	1239	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA39230552 rs1040976257	1240	T>I		No	ClinGen TOPMed
rs1040976257 CA39230551	1240	T>R		No	ClinGen TOPMed
TCGA novel	1242	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1445714 rs142483982	1243	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA345337986 rs1328383386	1245	L>P		No	ClinGen gnomAD
CA345337993 rs1571877020	1246	V>G		No	ClinGen Ensembl
rs375636944 CA1445716	1248	Q>*		No	ClinGen ESP ExAC gnomAD
rs1310708781 CA345338029	1251	L>P		No	ClinGen gnomAD
rs1303197107 CA345338049	1254	L>P		No	ClinGen gnomAD
rs778109896 CA1445720	1255	D>G		No	ClinGen ExAC gnomAD
CA345338064 rs1312960813	1257	S>G		No	ClinGen TOPMed
rs1450360409 CA345338078	1258	N>K		No	ClinGen TOPMed
CA1445723 rs771318352 CA345338079	1259	M>L		No	ClinGen ExAC TOPMed gnomAD
CA39230553 rs993717723	1259	M>T		No	ClinGen TOPMed
rs771318352 CA345338080	1259	M>V		No	ClinGen ExAC TOPMed gnomAD
CA39230554 rs866914395	1262	A>E		No	ClinGen Ensembl
CA1445724 rs774651483	1262	A>T		No	ClinGen ExAC gnomAD
CA345338117 rs1352437767	1264	V>L		No	ClinGen TOPMed
CA39230783 rs941272612	1271	V>L		No	ClinGen TOPMed
CA345338177 rs1449955627	1272	T>A		No	ClinGen TOPMed gnomAD
CA1445755 rs759456561	1272	T>K		No	ClinGen ExAC TOPMed gnomAD
CA345338178 rs1449955627	1272	T>S		No	ClinGen TOPMed gnomAD
rs1277692894 CA345338189	1274	L>P		No	ClinGen gnomAD
CA345338198 rs1485141380	1275	R>K		No	ClinGen gnomAD
rs755958813 CA1445758	1278	L>V		No	ClinGen ExAC gnomAD
rs764248605 CA1445759	1280	C>G		No	ClinGen ExAC TOPMed gnomAD
rs753849911 CA1445760	1281	P>S		No	ClinGen ExAC gnomAD
CA345338259 rs1375007061	1285	E>G		No	ClinGen gnomAD
rs1171882566 CA345338257	1285	E>K		No	ClinGen gnomAD
rs957202256 CA39230786	1287	A>T		No	ClinGen TOPMed gnomAD
rs187075884 CA1445763	1287	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs758801934 CA1445765	1291	W>R		No	ClinGen ExAC gnomAD
rs780238926 CA1445766	1292	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs747572919 CA1445767	1292	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs747572919 CA1445768	1292	R>P		No	ClinGen ExAC TOPMed gnomAD
CA1445769 rs772780409	1293	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1352380444 CA345338319	1295	P>S		No	ClinGen TOPMed
rs368962336 CA1445771	1297	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs759227710 CA1445773	1297	I>M		No	ClinGen ExAC gnomAD
rs372634797 CA1445772	1297	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1389990804 CA345338338	1298	V>L		No	ClinGen TOPMed gnomAD
CA1445774 rs771926295	1299	T>I		No	ClinGen ExAC gnomAD
CA345338353 rs1306291673	1300	A>V		No	ClinGen TOPMed
CA345338366 rs1254130317	1302	T>I		No	ClinGen gnomAD
CA39230928 rs527634397	1305	N>S		No	ClinGen 1000Genomes
rs775206018 CA1445793	1306	R>*		No	ClinGen ExAC gnomAD
CA1445794 rs775206018	1306	R>G		No	ClinGen ExAC gnomAD
rs142409402 CA1445796	1306	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142409402 CA1445795	1306	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1445797 rs761698361	1310	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA345338427 rs761698361	1310	Q>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1311	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1445798 rs765321661	1313	P>R		No	ClinGen ExAC gnomAD
rs1317436966 CA345338457	1314	V>A		No	ClinGen gnomAD
CA1445799 rs750443899	1315	S>F		No	ClinGen ExAC gnomAD
CA1445800 rs763237961	1316	L>V		No	ClinGen ExAC gnomAD
rs1163768973 CA345338471	1317	T>I		No	ClinGen TOPMed
CA345338468 rs1391967266	1317	T>P		No	ClinGen TOPMed
rs371627284 CA1445801	1318	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA345338478 rs371627284	1318	V>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1445803 rs755344705	1319	V>F		No	ClinGen ExAC gnomAD
CA1445806 rs143163378	1320	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1445807 rs778574334	1321	P>S		No	ClinGen ExAC TOPMed gnomAD
rs778574334 CA39230929	1321	P>T		No	ClinGen ExAC TOPMed gnomAD
rs376774738 CA1445808	1322	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs779622900 CA1445810	1324	D>G		No	ClinGen ExAC TOPMed gnomAD
COSM1194454 CA1445809 rs539716346	1324	D>N	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs975265207 CA39230930	1325	V>I		No	ClinGen Ensembl
rs1337369424 CA345338520	1326	L>P		No	ClinGen gnomAD
CA1445813 rs776360061	1329	L>P		No	ClinGen ExAC gnomAD
rs748090515 CA1445814	1330	L>P		No	ClinGen ExAC TOPMed gnomAD
rs553562060 CA1445816	1331	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1445815 COSM3385884 rs769649026	1331	R>W	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1558170223 CA345338548	1332	Q>R		No	ClinGen Ensembl
rs774472016 CA1445819	1333	G>E		No	ClinGen ExAC gnomAD
CA345338553 rs766456989	1333	G>R		No	ClinGen ExAC TOPMed gnomAD
rs774472016 CA345338555	1333	G>V		No	ClinGen ExAC gnomAD
rs766456989 CA1445818	1333	G>W		No	ClinGen ExAC TOPMed gnomAD
rs1351436025 CA345338556	1334	E>*		No	ClinGen TOPMed
rs759759033 CA39230931	1334	E>A		No	ClinGen ExAC TOPMed gnomAD
rs759759033 CA1445820	1334	E>G		No	ClinGen ExAC TOPMed gnomAD
CA1445821 rs768010390	1335	E>G		No	ClinGen ExAC gnomAD
CA345338572 rs1571879700	1336	A>G		No	ClinGen Ensembl
rs753047079 CA345338575	1337	I>L		No	ClinGen ExAC TOPMed gnomAD
rs753047079 CA1445822	1337	I>V		No	ClinGen ExAC TOPMed gnomAD
CA1445824 rs150547675	1338	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1445825 rs754347984	1339	N>S		No	ClinGen ExAC TOPMed
CA345338590 rs754347984	1339	N>T		No	ClinGen ExAC TOPMed
CA1445829 rs746662717	1340	P>H		No	ClinGen ExAC TOPMed gnomAD
CA1445828 rs779575587	1340	P>T		No	ClinGen ExAC gnomAD
rs149407262 CA1445830	1341	H>R		No	ClinGen ESP ExAC gnomAD
CA1445833 rs769561111	1343	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1344	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773178426 CA345338621	1344	S>N		No	ClinGen ExAC gnomAD
CA1445834 rs773178426	1344	S>T		No	ClinGen ExAC gnomAD
CA345338635 rs1282686537	1346	A>V		No	ClinGen gnomAD
CA345338641 rs1484816527	1347	F>S		No	ClinGen gnomAD
CA1445835 rs749214951	1348	S>N		No	ClinGen ExAC gnomAD
CA39230933 rs891813735	1350	L>F		No	ClinGen TOPMed
CA39230934 rs1011477537	1352	T>A		No	ClinGen TOPMed gnomAD
CA345338684 rs1188170783	1354	P>R		No	ClinGen gnomAD
rs1428490000 CA345338688	1355	L>S		No	ClinGen TOPMed gnomAD
rs140216023 CA1445836	1355	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1445837 rs774435867	1356	D>E		No	ClinGen ExAC gnomAD
CA345338694 rs1318481678	1356	D>Y		No	ClinGen TOPMed gnomAD
CA1445838 rs759684400	1357	H>N		No	ClinGen ExAC TOPMed gnomAD
rs767920784 CA1445839	1357	H>Q		No	ClinGen ExAC gnomAD
CA39230935 rs759684400	1357	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA1445840 rs116564152	1360	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1445842 rs764524068	1361	L>P		No	ClinGen ExAC gnomAD
CA39230936 rs754334241	1362	E>D		No	ClinGen ExAC TOPMed gnomAD
CA1445844 rs757732655	1365	S>N		No	ClinGen ExAC gnomAD
CA1445845 rs201344904	1366	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1369412158 CA345338766	1367	F>L		No	ClinGen TOPMed
rs751014984 CA1445846	1368	P>L		No	ClinGen ExAC TOPMed gnomAD
CA1445848 rs573834291	1369	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747773668 CA1445849	1371	H>D		No	ClinGen ExAC gnomAD
CA39230937 rs542844394	1371	H>R		No	ClinGen 1000Genomes gnomAD
rs747773668 CA345338783	1371	H>Y		No	ClinGen ExAC gnomAD
CA345338789 rs1571879880	1372	N>H		No	ClinGen Ensembl
CA1445850 rs755941015	1372	N>K		No	ClinGen ExAC TOPMed gnomAD
rs147241720 CA345338797	1373	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs147241720 CA1445851	1373	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs770839033 CA1445853	1379	Q>*		No	ClinGen ExAC gnomAD
rs746003792 CA1445855	1382	P>L		No	ClinGen ExAC gnomAD
rs892039673 CA39230939	1383	K>E		No	ClinGen gnomAD
rs1157852879 CA345338881	1384	V>I		No	ClinGen TOPMed
CA1445875 rs371809566	1385	M>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1250598757 CA345338898	1386	L>P		No	ClinGen gnomAD
rs1179532385 CA345338906	1387	K>N		No	ClinGen gnomAD
rs1439113496 CA345338904	1387	K>R		No	ClinGen gnomAD
CA345338909 rs1413490724	1388	A>T		No	ClinGen TOPMed
rs1250678050 CA345338915	1389	I>V		No	ClinGen gnomAD
CA1445876 rs780234127	1390	P>L		No	ClinGen ExAC gnomAD
rs1156812292 CA345338937	1392	F>C		No	ClinGen gnomAD
TCGA novel	1395	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1445879 rs776712500	1396	F>L		No	ClinGen ExAC gnomAD
CA1445880 rs762292901	1397	N>S		No	ClinGen ExAC gnomAD
rs770028492 CA1445881	1399	L>M		No	ClinGen ExAC gnomAD
VAR_046975 CA1445882 RCV000885967 rs12142450	1400	V>M		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs763407434 CA1445883	1401	F>S		No	ClinGen ExAC gnomAD
rs1270154946 CA345339018	1404	M>I		No	ClinGen TOPMed
rs767030556 CA1445884	1404	M>R		No	ClinGen ExAC gnomAD
rs767030556 CA39231332	1404	M>T		No	ClinGen ExAC gnomAD
rs1356370941 CA345339013	1404	M>V		No	ClinGen gnomAD
rs975284612 CA345339021	1405	R>L		No	ClinGen TOPMed gnomAD
CA39231333 rs975284612	1405	R>Q		No	ClinGen TOPMed gnomAD
COSM1501200 rs746722891 CA1445885	1405	R>W	lung Variant assessed as Somatic; 4.627e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA345339022 rs1260380876	1406	E>K		No	ClinGen TOPMed
CA1445886 rs375060891	1407	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA1445889 rs41310553	1408	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1318884599 CA1445887	1408	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA345339054 rs1485797903	1411	D>N		No	ClinGen gnomAD
CA345339066 rs1254498157	1412	K>R		No	ClinGen gnomAD
CA39231679 COSM3804283 rs895573807	1415	I>V	breast [Cosmic]	No	ClinGen cosmic curated TOPMed
CA1445911 rs750174688	1416	D>G		No	ClinGen ExAC gnomAD
rs145601598 CA1445910	1416	D>H		No	ClinGen ESP ExAC gnomAD
CA345339116 rs1298683522	1418	L>Q		No	ClinGen gnomAD
CA345339123 rs1263704421	1419	P>R		No	ClinGen TOPMed
rs766482183 CA1445913	1420	T>A		No	ClinGen ExAC gnomAD
rs144397425 CA39231680	1420	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1445914 rs144397425	1420	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1445916 rs777991072	1421	V>L		No	ClinGen ExAC gnomAD
CA1445918 rs756226914	1424	C>Y		No	ClinGen ExAC gnomAD
CA1445920 rs749714335	1426	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1161631532 CA345339163	1426	R>H		No	ClinGen gnomAD
rs774880291 CA1445922	1430	R>K		No	ClinGen ExAC gnomAD
CA345339187 rs7521953	1430	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1250838915 CA345339195	1431	M>I		No	ClinGen gnomAD
rs1437899848 CA345339193	1431	M>T		No	ClinGen gnomAD
CA39231682 rs77199367	1432	Y>S		No	ClinGen Ensembl
CA345339215 rs1291298618	1434	H>Y		No	ClinGen gnomAD
rs147338452 CA1445925	1436	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA345339233 COSM1668547 rs765047341	1437	A>P	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM367006 rs765047341 CA1445927	1437	A>T	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM165420 rs375051377 CA1445929	1438	R>*	breast [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs375051377 CA1445930	1438	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs149776019 CA345339238	1438	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs149776019 CA1445931	1438	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1219391624 CA345339242	1439	A>T		No	ClinGen gnomAD
CA1445933 rs146722378	1440	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs752789902 CA1445934	1440	E>D		No	ClinGen ExAC gnomAD
rs148528192 CA1445932	1440	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756208025 CA1445935	1441	E>G		No	ClinGen ExAC gnomAD
CA345339253 rs1249955961 COSM1668548	1441	E>K	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
CA345339268 rs1418327808	1443	A>S		No	ClinGen TOPMed
CA345339266 rs1418327808	1443	A>T		No	ClinGen TOPMed
rs1418411107 CA345339274	1444	V>M		No	ClinGen gnomAD
rs947299891 CA39231683	1445	F>L		No	ClinGen TOPMed gnomAD
CA1445937 rs778023011	1447	P>A		No	ClinGen ExAC gnomAD
rs1348759909 CA345339308	1449	M>T		No	ClinGen gnomAD
TCGA novel	1451	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1445938 rs144123664	1452	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA1445939 rs757649659	1452	Q>R		No	ClinGen ExAC gnomAD
rs369349530 CA345339340	1454	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs369349530 CA1445941	1454	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA345339352 rs1227103558	1456	E>Q		No	ClinGen gnomAD
CA345339368 rs1308133871	1458	Q>P		No	ClinGen TOPMed gnomAD
TCGA novel	1460	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA39232151 rs1029872211	1460	V>A		No	ClinGen Ensembl
CA1445965 rs748958582	1461	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1437867418 CA345339424	1464	P>R		No	ClinGen gnomAD
rs1304380357 CA345339426	1465	A>T		No	ClinGen TOPMed
CA39232153 rs1052926289	1469	L>M		No	ClinGen TOPMed
CA1445967 rs774041958	1472	E>A		No	ClinGen ExAC gnomAD
CA1445966 rs200840694	1472	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs982869273 CA39232154	1476	L>R		No	ClinGen TOPMed
CA39232155 rs140673724	1478	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771873132 CA1445969	1481	C>R		No	ClinGen ExAC gnomAD
rs760557526 CA1445971	1483	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1210506541 CA345339552	1484	P>H		No	ClinGen gnomAD
CA345339551 rs1317337075	1484	P>T		No	ClinGen gnomAD
CA1445972 rs764173815	1485	D>A		No	ClinGen ExAC TOPMed gnomAD
CA1445974 rs761878270	1486	V>I		No	ClinGen ExAC TOPMed gnomAD
rs761878270 CA345339563	1486	V>L		No	ClinGen ExAC TOPMed gnomAD
CA345339569 rs1445272532	1487	Q>*		No	ClinGen TOPMed
rs138399002 CA1445977	1490	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA1445975 rs114573548	1490	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1171681117 CA345339592	1491	A>P		No	ClinGen TOPMed gnomAD
CA345339596 rs1409172213	1491	A>V		No	ClinGen gnomAD
rs143520079 CA1445979	1492	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA39232157 rs540815059	1494	Q>*		No	ClinGen gnomAD
CA345339610 rs1441680328	1494	Q>R		No	ClinGen gnomAD
rs761646981 CA39232159	1495	P>L		No	ClinGen TOPMed
CA39232158 rs761646981	1495	P>Q		No	ClinGen TOPMed
CA1445981 rs143996284	1497	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA345339640 rs1350868444	1499	D>H		No	ClinGen TOPMed gnomAD
rs1230013584 CA345339649	1500	I>V		No	ClinGen gnomAD
CA39232160 rs947024420	1502	K>Q		No	ClinGen Ensembl
rs1266091813 CA345339664	1502	K>T		No	ClinGen gnomAD
rs1017083568 CA39232161	1505	Y>C		No	ClinGen TOPMed
CA345339687 rs1017083568	1505	Y>F		No	ClinGen TOPMed
rs1328424714 CA345339691	1506	N>D		No	ClinGen gnomAD
CA1445982 rs748868307	1508	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs962516710 CA39232163	1510	K>R		No	ClinGen TOPMed
CA345339739 rs1449443867	1512	H>Q		No	ClinGen gnomAD
CA1445983 rs756808543	1512	H>R		No	ClinGen ExAC gnomAD
TCGA novel	1518	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1445984 rs139372652	1523	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1473739213 CA345339826	1524	A>V		No	ClinGen gnomAD
CA345339828 rs1558175147	1525	A>Q		No	ClinGen Ensembl

No associated diseases with Q14146

1 regional properties for Q14146

Type	Name	Position	InterPro Accession
domain	Nucleolar 27S pre-rRNA processing, Urb2/Npa2, C-terminal	1322 - 1515	IPR018849

Functions

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

3 GO annotations of cellular component

Name	Definition
aggresome	An inclusion body formed by dynein-dependent retrograde transport of an aggregated protein on microtubules.
midbody	A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

2 GO annotations of biological process

Name	Definition
regulation of signal transduction by p53 class mediator	Any process that modulates the frequency, rate or extent of signal transduction by p53 class mediator.
ribosome biogenesis	A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of ribosome subunits; includes transport to the sites of protein synthesis.

No homologous proteins in AiPD

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

10	20	30	40	50	60
MAAVYSGISL	KLKSKTTSWE	DKLKLAHFAW	ISHQCFLPNK	EQVLLDWARQ	SLVAFYKKKL
70	80	90	100	110	120
ELKEDIVERL	WIYIDNILHS	RKLQNLLKNG	KTINLQISLV	KIINERVAEF	SLSGSQRNIC
130	140	150	160	170	180
AVLRCCQGIL	STPALAVIYT	AKQELMVALL	SQLCWSACRQ	PEGAVVAQLF	EVIHLALGHY
190	200	210	220	230	240
LLILQQQVNP	RRAFGDVTAH	LLQPCLVLRH	LLSGGTWTQA	GQGQLRQVLS	RDIRSQIEAM
250	260	270	280	290	300
FRGGIFQPEL	LSSYKEGLLD	QQQGDVKTGA	MKNLLAPMDT	VLNRLVDAGY	CAASLHTSVV
310	320	330	340	350	360
ANSVALLYKL	FLDSYFKEGN	QLLCFQVLPR	LFGCLKISHL	QEEQSKALST	SDWTTELLVV
370	380	390	400	410	420
EQLLNSVANN	NIYNIAADRI	RHEEAQFRFY	RHVAELLINH	AQAPIPAWFR	CLKTLISLNH
430	440	450	460	470	480
LILEPDLDDL	LASAWIDAEV	TEFRTKKAQE	ALIRTVFQTY	AKLRQVPRLF	EEVLGVICRP
490	500	510	520	530	540
AAEALRQPVL	ASGPSTVLSA	CLLELPPSQI	LDTWSLVLEK	FQSLVLPYLQ	SDADMALKSL
550	560	570	580	590	600
SLSLLLHCIM	FNMRSLDSST	PLPIVRRTQC	MMERMMRELV	QPLLALLPDT	PGPEPELWLQ
610	620	630	640	650	660
KVSDSVLLLS	YTWAQVDAMF	SLNCSQYHSM	SGPLIGVALE	ISNLPSLLPG	VKTQHWKKIE
670	680	690	700	710	720
KFTAQFSSLG	TYCLEQLYLQ	KMKRTLMQTS	FRSEGAIQSL	RCDAAFIIGS	GRKSLNQRTT
730	740	750	760	770	780
ASWDGQVGMV	SGLTYPVAHW	HLIVSNLTIL	ISYLCPDDVG	YLASVLLRTL	PMGKAQEVSI
790	800	810	820	830	840
DEEAYITLEK	ISKAFLHSPL	FPEMQSLHSA	FLTCVTTSCS	SILCSGAQRD	SGLVSQQLPW
850	860	870	880	890	900
LFEKDHMVVG	HWENRFAKAG	PEGIEPRGEI	AQNLLSLVKS	DFPIQLEGEQ	LESILGLLEV
910	920	930	940	950	960
ISALQLDSLL	PPYHVHYFLV	LLSMAVTKLG	CSCSSSLALK	FLTTCYQLLG	YLQKGKSARS
970	980	990	1000	1010	1020
VFKIMYGSDI	FEVVLTSLFR	ASSRFLIEMD	DPAWLEFLQV	IGTFLEELMQ	MLIQMKLSLV
1030	1040	1050	1060	1070	1080
LNFRKITAFL	SSSKPYTEAA	SSKQLENQNP	QGRQLLLVSL	TRLCHVLGPF	LKEQKLGQEA
1090	1100	1110	1120	1130	1140
PAALSELLQQ	VVLQTGAVLQ	LCSVPGARGW	RLPSVLISSV	STLLEADLGQ	HCRDGGADIS
1150	1160	1170	1180	1190	1200
QGSDRTLLSH	VALYQGVYSQ	ILLELPALAG	HDQSFQAALQ	FLTLFFLAPE	LHPKKDSVFT
1210	1220	1230	1240	1250	1260
SMFHSVRRVL	ADPEIPVQVT	QDIEPHLGAL	FTQMLEVGTT	EDLRLVMQCI	LQGLDVSNMW
1270	1280	1290	1300	1310	1320
KADVQAVVSA	VTLLRLLLNC	PLSGEKASLL	WRACPQIVTA	LTLLNREASQ	EQPVSLTVVG
1330	1340	1350	1360	1370	1380
PVLDVLAALL	RQGEEAIGNP	HHVSLAFSIL	LTVPLDHLKP	LEYGSVFPRL	HNVLFSILQC
1390	1400	1410	1420	1430	1440
HPKVMLKAIP	SFLNSFNRLV	FSVMREGRQK	DKGSIDDLPT	VLKCARLVER	MYSHIAARAE
1450	1460	1470	1480	1490	1500
EFAVFSPFMV	AQYVLEVQKV	TLYPAVKSLL	QEGIYLILDL	CIEPDVQFLR	ASLQPGMRDI
1510	1520
FKELYNDYLK	YHKAKHEGEK	RYTA