AiPD: Autoinhibited Protein Database

Q149M9

Gene name	NWD1
Protein name	NACHT domain- and WD repeat-containing protein 1
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:284434
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

96-167 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

96-167 (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 Q149M9

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q149M9-F1	Predicted				AlphaFoldDB

1435 variants for Q149M9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
COSM1179712 rs193920843 CA174124 RCV000149022	1223	N>S	Malignant tumor of prostate prostate [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ESP ExAC dbSNP gnomAD
rs1268150126 CA404605929	3	R>K		No	ClinGen TOPMed gnomAD
CA404605934 rs1341254199	3	R>S		No	ClinGen gnomAD
rs1006994805 CA305977316	6	P>A		No	ClinGen TOPMed gnomAD
rs1468339064 CA404605962	6	P>H		No	ClinGen TOPMed
rs1006994805 CA404605959	6	P>T		No	ClinGen TOPMed gnomAD
CA9281385 rs756944083	8	R>K		No	ClinGen ExAC TOPMed gnomAD
rs1253719733 CA404606153	12	T>I		No	ClinGen gnomAD
CA305977336 rs545716947	13	L>R		No	ClinGen 1000Genomes gnomAD
TCGA novel	14	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404606176 rs1599425314	14	K>Q		No	ClinGen Ensembl
rs8107776 CA9281386	15	C>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA404606416 rs1463482764	20	Q>H		No	ClinGen gnomAD
rs547758581 CA9281387	20	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780075830 CA9281389	23	G>S		No	ClinGen ExAC TOPMed gnomAD
CA404606553 rs1315841167	25	M>I		No	ClinGen TOPMed gnomAD
CA404606587 rs1291337456	26	F>S		No	ClinGen TOPMed
rs530483947 CA9281390	27	E>A		No	ClinGen 1000Genomes ExAC gnomAD
CA305985662 rs571098200	29	V>I		No	ClinGen 1000Genomes TOPMed gnomAD
rs769471592 CA9281400	30	D>V		No	ClinGen ExAC gnomAD
rs967780896 CA305985675	31	L>Q		No	ClinGen TOPMed gnomAD
rs1281358411 CA404608305	34	G>D		No	ClinGen gnomAD
CA305985682 rs866532965	36	R>Q		No	ClinGen TOPMed gnomAD
CA305985679 rs188048122	36	R>W		No	ClinGen 1000Genomes TOPMed gnomAD
CA9281401 rs117353506	38	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs868743490 CA305985706	39	E>K		No	ClinGen gnomAD
rs1212205206 CA404608378	40	A>T		No	ClinGen gnomAD
rs1250515756 CA404608426	43	H>R		No	ClinGen gnomAD
rs1178974162 CA404608455	45	T>I		No	ClinGen gnomAD
CA9281402 rs762324791	48	L>F		No	ClinGen ExAC gnomAD
rs1460543246 CA404608491	48	L>P		No	ClinGen Ensembl
CA404608533 rs1219062500	51	E>D		No	ClinGen TOPMed
rs764106454 CA9281403	51	E>K		No	ClinGen ExAC gnomAD
CA404608524 rs764106454	51	E>Q		No	ClinGen ExAC gnomAD
rs1319544249 CA404608543	52	E>*		No	ClinGen TOPMed
CA404608547 rs1172668968	52	E>A		No	ClinGen gnomAD
CA404608580 rs1436420817	54	D>H		No	ClinGen gnomAD
CA9281405 rs761665270	55	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs139873139 CA9281404	55	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1309175535 CA404608627	57	W>*		No	ClinGen gnomAD
rs1568338335 CA404608632	58	K>Q		No	ClinGen Ensembl
CA305985769 rs1027454909	59	T>I		No	ClinGen gnomAD
CA404608660 rs1233806449	60	S>C		No	ClinGen gnomAD
CA9281406 rs767288209	61	I>T		No	ClinGen ExAC gnomAD
TCGA novel	63	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1234334640 CA404608697	64	A>D		No	ClinGen TOPMed gnomAD
rs1234334640 CA404608700	64	A>V		No	ClinGen TOPMed gnomAD
CA9281413 rs77826648	69	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA404610825 rs1355320694	69	I>V		No	ClinGen gnomAD
rs1004762754 CA305993091	70	G>S		No	ClinGen TOPMed gnomAD
CA404610848 rs1434730044	71	D>G		No	ClinGen TOPMed
rs1192298623 CA404610866	72	Q>H		No	ClinGen TOPMed
CA404610864 rs1396434560	72	Q>P		No	ClinGen TOPMed
CA9281415 rs778255360	73	Y>C		No	ClinGen ExAC gnomAD
CA404610871 rs1454258391	73	Y>H		No	ClinGen TOPMed
rs1179274131 CA404610886	74	G>S		No	ClinGen TOPMed
rs966066433 CA305993110	75	P>S		No	ClinGen TOPMed
rs812847 CA305993114	78	I>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs812847 CA9281417	78	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA404610926 rs1484689245	79	P>L		No	ClinGen gnomAD
CA9281418 rs540916512	80	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs529246893 CA404610933	81	R>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs529246893 CA305993162	81	R>Q		No	ClinGen 1000Genomes TOPMed gnomAD
CA9281420 rs145594463	81	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA404610942 rs1158651452	83	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1455553270 CA404610966	86	E>*		No	ClinGen gnomAD
CA9281422 rs549380452	86	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs957181734 CA305993175	87	W>L		No	ClinGen TOPMed
CA404610994 rs1599450894	89	V>G		No	ClinGen Ensembl
rs1413444806 CA404610991	89	V>L		No	ClinGen gnomAD
rs1380694479 CA404611001	90	L>F		No	ClinGen gnomAD
CA305993193 rs935330509	93	H>D		No	ClinGen TOPMed gnomAD
CA404611018 rs935330509	93	H>Y		No	ClinGen TOPMed gnomAD
rs1218373847 CA404611029	95	T>P		No	ClinGen TOPMed gnomAD
rs1485249588 CA404611038	96	A>D		No	ClinGen gnomAD
CA404611036 rs1286426764	96	A>S		No	ClinGen TOPMed gnomAD
rs1485249588 CA404611040	96	A>V		No	ClinGen gnomAD
CA404611044 rs1208623247	97	R>M		No	ClinGen gnomAD
rs773012636 CA9281424	99	S>T		No	ClinGen ExAC gnomAD
rs1599450976 CA404611079	102	E>G		No	ClinGen Ensembl
CA305993220 rs553798426	105	A>E		No	ClinGen gnomAD
rs1161929289 CA404611093	105	A>T		No	ClinGen TOPMed
CA9281427 rs201479203	106	R>*		No	ClinGen ExAC TOPMed gnomAD
CA9281428 rs771904053	106	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA404611101 rs1255710812	107	Y>N		No	ClinGen TOPMed
CA9281429 rs765205938	108	F>Y		No	ClinGen ExAC gnomAD
CA404611117 rs1433317848	109	Q>*		No	ClinGen TOPMed gnomAD
rs893718209 CA305993277	109	Q>L		No	ClinGen TOPMed gnomAD
CA9281430 rs55976634	110	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA404611129 rs1241181285	111	D>H		No	ClinGen TOPMed
CA404611138 rs531841943	112	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9281431 rs531841943	112	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1241836467 CA404611153	113	N>K		No	ClinGen TOPMed gnomAD
CA305993311 rs773225871	113	N>S		No	ClinGen gnomAD
CA305993326 rs778376303	114	A>E		No	ClinGen ExAC TOPMed gnomAD
rs778376303 CA9281432	114	A>V		No	ClinGen ExAC TOPMed gnomAD
rs951143232 CA305993346	115	F>L		No	ClinGen Ensembl
CA9281433 rs747392538	116	P>H		No	ClinGen ExAC gnomAD
CA305993377 rs1015625340	117	P>S		No	ClinGen TOPMed gnomAD
CA9281435 rs779827293	120	V>I		No	ClinGen ExAC TOPMed gnomAD
rs768264428 CA9281437	122	Q>*		No	ClinGen ExAC gnomAD
CA9281438 rs778315696	122	Q>L		No	ClinGen ExAC gnomAD
CA404611221 rs778315696	122	Q>R		No	ClinGen ExAC gnomAD
CA404611225 rs1394782632	123	A>T		No	ClinGen gnomAD
rs1479921367 CA404611233	124	P>S		No	ClinGen gnomAD
rs1452818967 CA404611242	125	G>V		No	ClinGen gnomAD
rs948137493 CA305993453	126	T>A		No	ClinGen gnomAD
CA404611246 rs1426347263	126	T>N		No	ClinGen gnomAD
rs948137493 CA404611245	126	T>S		No	ClinGen gnomAD
CA305993470 rs982217232	128	E>K		No	ClinGen Ensembl
rs1447654884 CA404611268	128	E>V		No	ClinGen TOPMed
rs1169013862 CA404611293	130	C>Y		No	ClinGen gnomAD
rs113728633 CA9281440	134	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA404611361 rs113728633	134	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs968133662 CA305993474	135	A>P		No	ClinGen TOPMed
rs968133662 CA404611383	135	A>S		No	ClinGen TOPMed
CA305993478 rs770561579	136	T>A		No	ClinGen TOPMed gnomAD
CA305993488 rs935365792	138	T>I		No	ClinGen gnomAD
CA404611434 rs935365792	138	T>N		No	ClinGen gnomAD
CA305993490 rs539289114	139	S>F		No	ClinGen 1000Genomes TOPMed gnomAD
rs552832669 CA9281442	141	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs75226566 CA9281443	142	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs75226566 CA404611490	142	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA404611493 rs1320095043	142	R>H		No	ClinGen TOPMed gnomAD
rs75226566 CA404611488	142	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs899651480 CA305993534	143	S>P		No	ClinGen Ensembl
rs1252472442 CA404611516	143	S>Y		No	ClinGen gnomAD
CA404611537 rs1443306623	144	G>E		No	ClinGen gnomAD
CA404611551 rs535080534	145	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs535080534 CA9281444	145	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs555360685 CA9281445	147	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1004324957 CA305993567 COSM1630746	149	R>Q	liver [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs886853526 CA305993560	149	R>W		No	ClinGen TOPMed gnomAD
CA404611655 rs1568345079	150	R>M		No	ClinGen Ensembl
CA305993572 rs926920404	150	R>S		No	ClinGen TOPMed
rs1016560194 CA305993573	152	G>E		No	ClinGen Ensembl
CA404611675 rs1170715932	152	G>R		No	ClinGen TOPMed gnomAD
rs759643635 CA9281446	154	I>V		No	ClinGen ExAC gnomAD
rs1403216320 CA404611732	155	T>I		No	ClinGen gnomAD
rs1599451597 CA404611726	155	T>P		No	ClinGen Ensembl
CA305993594 rs963979597	156	Q>H		No	ClinGen gnomAD
CA404611766 rs1331463451	156	Q>R		No	ClinGen gnomAD
CA404611864 rs1342237342	159	W>*		No	ClinGen TOPMed gnomAD
CA404611900 rs1219202758	161	H>Y		No	ClinGen gnomAD
rs1347287466 CA404611947	162	Y>C		No	ClinGen gnomAD
rs868195008 CA305993616	164	R>Q	Variant assessed as Somatic; 0.0001857 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA9281448 rs752846876	164	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA305998520 rs1049093895	167	I>M		No	ClinGen TOPMed gnomAD
CA404614196 rs1244039698	168	E>*		No	ClinGen TOPMed
rs752332980 CA9281476	169	W>*		No	ClinGen ExAC TOPMed gnomAD
rs1220390218 CA404614226	169	W>C		No	ClinGen gnomAD
CA9281477 rs757951904	170	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1210268692 CA404614260	171	I>T		No	ClinGen gnomAD
CA9281478 rs190135809	171	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA305998569 rs373811297	172	E>D		No	ClinGen gnomAD
CA404614275 rs1354363232	172	E>K		No	ClinGen TOPMed
rs1354363232 CA404614273	172	E>Q		No	ClinGen TOPMed
CA9281480 rs375602441	173	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs73928631 CA9281479	173	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9281481 VAR_036769 rs3888834	174	S>G		No	ClinGen UniProt ExAC dbSNP gnomAD
CA9281482 rs745655453	174	S>N		No	ClinGen ExAC TOPMed gnomAD
rs548101014 CA9281483	177	S>N		No	ClinGen ExAC TOPMed gnomAD
rs866694761 CA305998631	178	S>L		No	ClinGen Ensembl
TCGA novel	179	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9281488 rs141232322	181	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9281487 rs140045971	181	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1227306789 CA404614418	182	E>D		No	ClinGen gnomAD
CA305998672 rs996467382	183	Q>*		No	ClinGen TOPMed
RCV000963701 rs76739123 CA9281489	183	Q>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA305998695 rs868503603	184	G>E		No	ClinGen Ensembl
rs769232322 CA9281493	187	V>A		No	ClinGen ExAC gnomAD
CA9281492 rs142661674	187	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1471945465 CA404614479	188	F>L		No	ClinGen TOPMed
rs968369076 CA305998741	190	R>K		No	ClinGen TOPMed gnomAD
rs752386089 CA9281494	191	E>D		No	ClinGen ExAC TOPMed gnomAD
CA404614544 rs1180242575	192	I>F		No	ClinGen gnomAD
CA404614560 rs1599460574	194	D>A		No	ClinGen Ensembl
rs1568348736 CA404614564	194	D>E		No	ClinGen Ensembl
rs758076539 CA9281495	195	L>F		No	ClinGen ExAC TOPMed gnomAD
CA9281497 rs369850508	196	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1214168842 CA404614594	199	I>V		No	ClinGen TOPMed
TCGA novel	201	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1487860372 CA404614619	202	D>V		No	ClinGen TOPMed
CA9281498 rs368201346	203	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs372464599 CA9281501	204	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9281500 COSM992508 rs372464599	204	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA9281503 rs749054403	205	L>R		No	ClinGen ExAC gnomAD
rs1446427605 CA404614635	205	L>V		No	ClinGen gnomAD
rs1599460688 CA404614663	209	D>A		No	ClinGen Ensembl
rs1228551314 CA404614667	209	D>E		No	ClinGen gnomAD
CA305998832 rs867793000	210	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs144808399 CA9281505	210	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs11668502 VAR_036770 CA9281507	211	L>F		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA9281509 rs61750949	212	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9281510 rs61750949 RCV000963702	212	A>T		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs777000586 CA9281511	212	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9281516 rs767035716	213	D>E		No	ClinGen ExAC
CA9281515 rs61750950	213	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA404614682 rs1483586082	213	D>H		No	ClinGen gnomAD
rs1483586082 CA404614681	213	D>N		No	ClinGen gnomAD
CA9281514 rs61750950	213	D>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9281517 rs750371778	214	G>S		No	ClinGen ExAC gnomAD
rs149592897 CA9281518	215	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA404614698 rs1191474483	216	L>Q		No	ClinGen TOPMed
rs144261429 CA9281519	216	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA9281520 rs753689045	217	D>N		No	ClinGen ExAC gnomAD
CA404614709 rs706764	218	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs706764 CA404614708	218	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9281521 rs706764 VAR_036771	218	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA404614717 rs1223514448	219	D>G		No	ClinGen TOPMed
rs1568349022 CA404614734	221	Q>H		No	ClinGen Ensembl
CA404614743 rs1449504076	223	L>F		No	ClinGen TOPMed
CA404614747 rs1330078383	223	L>P		No	ClinGen gnomAD
rs1448494673 CA404614765	226	S>C		No	ClinGen gnomAD
TCGA novel	227	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9281524 rs779057858	228	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1366584234 CA404614787	229	S>N		No	ClinGen gnomAD
CA404614795 rs1319447189	230	H>P		No	ClinGen TOPMed
rs546626324 CA305998988	234	M>I		No	ClinGen 1000Genomes
rs748378703 CA9281525	234	M>V		No	ClinGen ExAC gnomAD
rs772083264 CA9281526	235	H>D		No	ClinGen ExAC gnomAD
CA404614831 rs1218519172	235	H>L		No	ClinGen TOPMed
rs375113440 CA9281527	236	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs865980303 CA305999058	239	L>F		No	ClinGen Ensembl
CA404614861 rs1256208691	240	K>R		No	ClinGen TOPMed gnomAD
CA9281529 rs771442973	241	T>I		No	ClinGen ExAC gnomAD
rs141437037 CA9281532	243	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs201116385 CA9281533	243	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA9281535 rs761500318	245	P>L	Variant assessed as Somatic; 0.0002312 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA305999109 rs761500318	245	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1169391212 CA404614889	245	P>S		No	ClinGen gnomAD
CA9281537 rs749974742	246	W>G		No	ClinGen ExAC TOPMed gnomAD
CA305999142 rs749974742 CA404614891	246	W>R		No	ClinGen ExAC TOPMed gnomAD
rs575435644 CA9281539	248	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA9281540 COSM2157128 rs753810178	248	R>H	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs202142885 CA9281542 COSM992510	249	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA404614920 rs1217901240	250	L>W		No	ClinGen gnomAD
CA404614928 rs1320025938	251	V>A		No	ClinGen gnomAD
rs1450073058 CA404614957	254	K>Q		No	ClinGen gnomAD
rs199631115 CA9281545	255	N>I		No	ClinGen ExAC gnomAD
CA305999219 rs1005062953	255	N>K		No	ClinGen TOPMed gnomAD
rs199631115 CA9281544	255	N>S		No	ClinGen ExAC gnomAD
rs375965910 CA9281546	256	K>R		No	ClinGen ESP ExAC gnomAD
CA305999229 rs1023920624	257	T>S		No	ClinGen TOPMed
CA9281548 rs140218429	259	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1420857366 CA404615040	260	C>Y		No	ClinGen TOPMed gnomAD
rs1478478121 CA404615076	262	L>V		No	ClinGen gnomAD
CA404615086 rs1389637372	263	K>Q		No	ClinGen gnomAD
rs373334984 CA9281552	264	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA9281553 rs375494759	264	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs77784582 CA305999279	266	G>A		No	ClinGen gnomAD
CA9281554 rs376481084	266	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs760317350 CA9281555	271	V>L		No	ClinGen ExAC gnomAD
CA9281557 rs370922918	273	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9281558 rs759548962	273	A>V		No	ClinGen ExAC TOPMed gnomAD
rs765034013 CA9281559	274	N>D		No	ClinGen ExAC TOPMed gnomAD
CA9281560 rs752549089	275	H>Y		No	ClinGen ExAC
rs372544628 CA9281565	280	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA9281566 rs372480386	280	R>H		No	ClinGen ESP TOPMed gnomAD
CA404615430 rs1488896147	281	L>P		No	ClinGen gnomAD
CA9281569 COSM992512 rs757377319	282	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA9281570 rs200643172	282	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA404615472 rs1471622332	283	E>*		No	ClinGen gnomAD
rs1599461618 CA404615500	284	L>P		No	ClinGen Ensembl
CA404615503 rs1164588300	285	D>N		No	ClinGen gnomAD
CA9281571 rs745912469	286	T>A		No	ClinGen ExAC TOPMed gnomAD
COSM271041 CA9281572 rs375674809	286	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs868061090 CA305999504	288	G>E		No	ClinGen Ensembl
CA9281575 rs145641467	288	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA404615684 rs1228941725	290	E>*		No	ClinGen TOPMed
CA9281576 rs773043988	291	L>V		No	ClinGen ExAC gnomAD
rs1338727774 CA404615740	292	A>T		No	ClinGen gnomAD
CA9281577 COSM1391300 rs746626131	292	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA404615787 rs1353251828	293	W>C		No	ClinGen gnomAD
CA404615865 rs1355093566	296	Q>R		No	ClinGen gnomAD
rs775286731 CA9281582	299	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM276424 rs61737596 CA9281583	299	R>H	Variant assessed as Somatic; 4.624e-05 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs775286731 CA404615960	299	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs139849705 CA9281585	300	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs890724504 CA305999588	301	H>N		No	ClinGen TOPMed
rs376005618 CA9281586	301	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1438675497 CA404616175	303	W>*		No	ClinGen gnomAD
rs767682389 CA9281587	304	Q>*		No	ClinGen ExAC gnomAD
rs1599461854 CA404616196	304	Q>P		No	ClinGen Ensembl
COSM1259755 rs149694092 CA9281588	306	S>L	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA404616352 rs1599461880	308	V>G		No	ClinGen Ensembl
rs765090731 CA305999609	310	Q>*		No	ClinGen Ensembl
CA9281590 rs780666332	311	T>I		No	ClinGen ExAC gnomAD
CA404616411 rs1179608845	311	T>S		No	ClinGen TOPMed
CA9281592 rs706763	313	C>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9281593 rs779448254	314	G>R		No	ClinGen ExAC TOPMed gnomAD
rs148848880 CA9281596	315	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA9281595 rs148848880	315	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9281598 rs143471757 COSM992514	315	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs148848880 CA9281597	315	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1568349896 CA404616644	317	E>D		No	ClinGen Ensembl
COSM283453 rs775547674 CA9281599	317	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs763983237 CA9281601	321	R>P		No	ClinGen ExAC gnomAD
CA404616745 rs763983237	321	R>Q		No	ClinGen ExAC gnomAD
rs576950895 CA9281600	321	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1254700372 CA404616772	323	G>R		No	ClinGen gnomAD
rs774157498 CA9281602	324	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs75948938 CA9281603	325	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA404616854 rs1457068184	326	L>F		No	ClinGen gnomAD
rs1176348066 CA404616891	327	R>S		No	ClinGen TOPMed gnomAD
rs767733729 CA9281604	328	H>Y		No	ClinGen ExAC gnomAD
rs760855501 CA9281606	329	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1458033690 CA404617023	330	D>G		No	ClinGen TOPMed
CA305999706 rs988045793	330	D>H		No	ClinGen gnomAD
rs1387950165 CA404617062	331	S>R		No	ClinGen TOPMed gnomAD
CA9281607 rs144849244	332	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA404617120 rs1568350000	333	Q>E		No	ClinGen Ensembl
CA9281608 rs753911477	334	H>D		No	ClinGen ExAC
rs367623956 CA9281610	335	T>S		No	ClinGen ESP ExAC gnomAD
CA9281611 rs779505296	338	V>A		No	ClinGen ExAC gnomAD
CA404617247 rs1306235578	338	V>I		No	ClinGen TOPMed gnomAD
rs1306235578 CA404617250	338	V>L		No	ClinGen TOPMed gnomAD
CA305999727 rs975614890	339	L>F		No	ClinGen TOPMed
CA9281614 rs535403809	340	F>S		No	ClinGen 1000Genomes ExAC gnomAD
CA404617396 rs1477146348	341	G>E		No	ClinGen TOPMed
TCGA novel	341	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	342	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404617415 rs1261391509	342	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA9281616 rs769386699	343	P>S		No	ClinGen ExAC TOPMed gnomAD
CA404617490 rs1224624017	344	G>V		No	ClinGen gnomAD
rs1489579914 CA404617546	346	G>A		No	ClinGen TOPMed
rs138694867 CA9281618	348	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9281619 rs371338220	349	A>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	349	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404617704 rs1480747812	350	L>P		No	ClinGen gnomAD
rs141235836 CA9281623	353	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9281622 rs771829279	353	K>R		No	ClinGen ExAC gnomAD
rs771829279 CA404617839	353	K>T		No	ClinGen ExAC gnomAD
CA305999808 rs1036654624	355	A>S		No	ClinGen TOPMed
rs1036654624 CA404617868	355	A>T		No	ClinGen TOPMed
CA9281624 rs760834194	356	E>K		No	ClinGen ExAC gnomAD
rs766571456 CA404617977	358	M>R		No	ClinGen ExAC TOPMed gnomAD
rs766571456 CA9281625	358	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1423021159 CA404617956	358	M>V		No	ClinGen gnomAD
CA404617987 rs753875281	359	P>S		No	ClinGen ExAC gnomAD
CA9281626 rs753875281	359	P>T		No	ClinGen ExAC gnomAD
rs1369250196 CA404618050	362	L>M		No	ClinGen TOPMed
rs369969017 CA305999878	362	L>P		No	ClinGen ESP TOPMed gnomAD
CA9281632 rs777971744	366	T>A		No	ClinGen ExAC gnomAD
CA9281634 rs61733271	369	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9281638 rs778867325	371	R>Q		No	ClinGen ExAC gnomAD
CA9281636 rs748757446	371	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1200019305 CA404618295	374	G>E		No	ClinGen TOPMed
CA404618305 rs1599462561	375	T>A		No	ClinGen Ensembl
CA9281639 rs748043520	375	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1350064434 CA404618353	378	M>L		No	ClinGen gnomAD
CA9281641 rs772901986	379	S>N		No	ClinGen ExAC gnomAD
CA404618402 rs369248613	379	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	381	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1162879668 CA404618446	382	A>V		No	ClinGen gnomAD
rs771061212 CA9281645	383	R>C		No	ClinGen ExAC gnomAD
rs771061212 CA9281644	383	R>G		No	ClinGen ExAC gnomAD
CA9281646 rs759747477	383	R>H		No	ClinGen ExAC gnomAD
CA9281648 rs776180574	385	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1290147805 CA404618497	388	S>N		No	ClinGen TOPMed gnomAD
CA404618508 rs1361978446	389	I>L		No	ClinGen gnomAD
rs1286585651 CA404618510	389	I>N		No	ClinGen TOPMed gnomAD
rs764614448 CA9281651	391	F>L		No	ClinGen ExAC gnomAD
CA9281652 rs751886416	392	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs766016710 CA9281654	394	C>G		No	ClinGen ExAC TOPMed gnomAD
rs1242794124 CA404618600	396	A>D		No	ClinGen TOPMed gnomAD
rs373604184 CA9281657	396	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA306000102 rs139831363	398	G>A		No	ClinGen ESP
rs1367989282 CA404618658	400	P>S		No	ClinGen TOPMed gnomAD
CA9281658 rs778421704	402	P>S		No	ClinGen ExAC TOPMed gnomAD
CA9281659 rs778421704	402	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1178453539 CA404618698	403	P>L		No	ClinGen gnomAD
rs1468048892 CA404618727	405	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1378809269 CA404618755	406	V>A		No	ClinGen TOPMed gnomAD
rs1173406870 CA404618762	407	L>P		No	ClinGen TOPMed
CA9281662 rs754193428	408	D>E		No	ClinGen ExAC TOPMed gnomAD
CA9281660 rs534156745	408	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770745124 CA404618798	409	A>S		No	ClinGen ExAC TOPMed
rs770745124 COSM313432 CA9281664	409	A>T	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
rs1345270888 CA404618816	410	H>D		No	ClinGen TOPMed gnomAD
CA9281666 RCV000963703 rs61998161	411	T>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs776767700 CA9281665	411	T>S		No	ClinGen ExAC gnomAD
rs770103468 CA9281667	412	R>G		No	ClinGen ExAC TOPMed gnomAD
CA404619545 rs1599462981	413	V>G		No	ClinGen Ensembl
CA306003017 rs961858858	413	V>M		No	ClinGen TOPMed
CA404619546 rs1452866130	414	V>I		No	ClinGen gnomAD
TCGA novel	415	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376841816 CA9281669	416	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1322523887 CA404619588	417	F>S		No	ClinGen gnomAD
CA9281671 rs370661839	418	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA9281670 rs574266944	418	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1334609342 CA404619609	419	T>I		No	ClinGen TOPMed
rs1599463057 CA404619601	419	T>P		No	ClinGen Ensembl
CA306003053 rs953279990	420	L>P		No	ClinGen TOPMed gnomAD
CA404619622 rs1265049700	421	L>F		No	ClinGen gnomAD
CA404619667 rs1198192237	423	T>S		No	ClinGen gnomAD
CA404619680 rs1471323531	424	V>A		No	ClinGen gnomAD
CA404619672 rs1236745916	424	V>L		No	ClinGen gnomAD
rs908287249 CA306003066	426	C>*		No	ClinGen gnomAD
rs762146683 CA9281673	426	C>R		No	ClinGen ExAC gnomAD
rs1173681537 CA404619731	427	R>S		No	ClinGen gnomAD
CA404619742 rs1568350773	428	N>S		No	ClinGen Ensembl
CA9281675 rs372894087	429	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9281676 rs754646171	430	E>K		No	ClinGen ExAC TOPMed gnomAD
rs764809637 CA9281678	431	S>A		No	ClinGen ExAC gnomAD
CA9281679 rs752206353	431	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA404619801 rs150877756	433	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9281682 rs150877756	433	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1285298947 CA404619897	439	M>T		No	ClinGen gnomAD
CA9281683 rs757043963	440	D>G		No	ClinGen ExAC TOPMed gnomAD
CA404619940 rs1599463258	441	D>A		No	ClinGen Ensembl
rs913960492 CA306003108	443	D>G		No	ClinGen TOPMed
CA404619977 rs1439759606	444	S>P		No	ClinGen gnomAD
CA9281686 rs770154919	446	R>C		No	ClinGen ExAC gnomAD
CA9281687 rs562546617	446	R>H		No	ClinGen 1000Genomes ExAC TOPMed
rs1599463338 CA404620028	447	H>R		No	ClinGen Ensembl
rs1202156099 CA404620023	447	H>Y		No	ClinGen gnomAD
rs749398259 CA9281688	448	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9281691 rs139108504	449	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9281690 rs139108504	449	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA9281689 rs373258516	449	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA9281692 rs772405740	450	R>K		No	ClinGen ExAC gnomAD
CA404620083 rs576075443 CA9281693	450	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1599463407 CA404620092	451	V>G		No	ClinGen Ensembl
CA404620109 rs1329332557	453	W>*		No	ClinGen gnomAD
CA404620158 rs1349038938	456	L>V		No	ClinGen gnomAD
CA9281695 rs760960238	457	N>D		No	ClinGen ExAC gnomAD
rs760960238 CA9281694	457	N>H		No	ClinGen ExAC gnomAD
rs752331132 CA9281696	457	N>S		No	ClinGen ExAC gnomAD
CA9281698 rs762418805	459	P>S		No	ClinGen ExAC TOPMed gnomAD
CA404620223 rs762418805	459	P>T		No	ClinGen ExAC TOPMed gnomAD
rs545091256 CA9281699	460	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	460	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs905451838 CA306003220	461	R>K		No	ClinGen TOPMed gnomAD
rs1568351075 CA404620280	462	V>E		No	ClinGen Ensembl
rs1568351075 CA404620285	462	V>G		No	ClinGen Ensembl
CA404620299 rs1320226324	463	H>D		No	ClinGen gnomAD
rs1391799808 CA404620305	463	H>L		No	ClinGen TOPMed
TCGA novel	464	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404620333 rs1568351115	465	I>N		No	ClinGen Ensembl
TCGA novel	466	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9281702 rs781219768	466	L>V		No	ClinGen ExAC TOPMed gnomAD
rs755971373 CA9281704	469	C>F		No	ClinGen ExAC gnomAD
rs1415552035 CA404620399	470	S>A		No	ClinGen TOPMed
rs377718201 CA9281705	470	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1457255861 CA404620417	471	G>A		No	ClinGen gnomAD
rs1457255861 CA404620416	471	G>E		No	ClinGen gnomAD
CA9281707 rs768716824	471	G>R		No	ClinGen ExAC gnomAD
rs374207879 CA9281709	472	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs200735264 CA9281710	472	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775162552 CA9281714	474	G>E		No	ClinGen ExAC TOPMed gnomAD
rs771263113 CA9281713	474	G>R		No	ClinGen ExAC gnomAD
CA404620449 rs1568351213	475	V>A		No	ClinGen Ensembl
CA404620445 rs1331972755	475	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	476	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs61746179 CA9281715	477	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763604438 CA9281716	478	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1357540370 CA404620474	478	T>I		No	ClinGen TOPMed gnomAD
rs1357540370 CA404620469	478	T>N		No	ClinGen TOPMed gnomAD
rs1430549419 CA404620493	480	Q>*		No	ClinGen TOPMed
rs560363206 CA9281718	481	R>G		No	ClinGen 1000Genomes ExAC TOPMed
CA9281719 rs76563274 COSM1750708	481	R>Q	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs560363206 CA9281717	481	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed
CA9281720 rs750375059	482	V>E		No	ClinGen ExAC gnomAD
TCGA novel	483	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404620521 rs1460091017	483	L>H		No	ClinGen TOPMed
CA9281722 rs779967968	484	L>Q		No	ClinGen ExAC gnomAD
CA404620538 rs1171481537	485	D>G		No	ClinGen TOPMed
CA9281724 rs755237671	486	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9281726 rs748323464	487	E>K		No	ClinGen ExAC gnomAD
CA9281727 rs758457446	488	A>D		No	ClinGen ExAC TOPMed gnomAD
CA404620567 rs1185236013	488	A>S		No	ClinGen gnomAD
CA9281728 rs140771991	489	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA9281729 rs747481835	490	W>*		No	ClinGen ExAC gnomAD
rs771387563 CA9281730	492	V>A		No	ClinGen ExAC TOPMed gnomAD
rs771387563 CA404620642	492	V>G		No	ClinGen ExAC TOPMed gnomAD
rs531367180 CA9281732	494	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs267605334 CA306003415	495	L>F		No	ClinGen TOPMed gnomAD
rs768362430 CA9281733	496	S>C		No	ClinGen ExAC gnomAD
CA9281735 rs571275303	497	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1198789989 CA404620748	500	G>S		No	ClinGen TOPMed
CA404620775 rs1320619844	501	Q>*		No	ClinGen TOPMed
rs1237527625 CA404620792	502	Q>*		No	ClinGen TOPMed gnomAD
CA404620789 rs1237527625	502	Q>K		No	ClinGen TOPMed gnomAD
CA9281738 CA9281737 rs554081215	503	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs534367849 CA9281736	503	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1205251981 CA404620822	504	I>M		No	ClinGen gnomAD
CA9281739 rs766358315	506	L>P		No	ClinGen ExAC gnomAD
rs368064624 CA9281740	508	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA404620894 rs1438930010	510	A>S		No	ClinGen gnomAD
CA9281743 rs752839067	511	A>V		No	ClinGen ExAC gnomAD
rs1470454304 CA404620964	513	R>T		No	ClinGen gnomAD
rs371297297 CA9281745	514	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs371297297 CA9281744	514	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	516	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9281748 rs373869121	517	P>L		No	ClinGen ESP ExAC gnomAD
rs774105212 CA9281751	518	V>A		No	ClinGen ExAC gnomAD
CA404621054 rs1175279668	519	H>L		No	ClinGen TOPMed gnomAD
rs747774584 CA9281752	520	T>P		No	ClinGen ExAC gnomAD
CA9281753 rs771814409	520	T>R		No	ClinGen ExAC TOPMed gnomAD
CA306003572 rs752545076	522	L>W		No	ClinGen Ensembl
rs772857517 CA9281754	524	W>C		No	ClinGen ExAC gnomAD
CA306003577 rs986592517	525	A>T		No	ClinGen Ensembl
rs1282113670 CA404621150	526	S>R		No	ClinGen gnomAD
rs1320723091 CA404621168	527	L>V		No	ClinGen gnomAD
rs760192740 CA9281755	529	E>G		No	ClinGen ExAC
CA306003601 rs961086772	530	C>S		No	ClinGen Ensembl
rs143565675 CA9281758	535	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs202056350 CA9281759	535	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs143565675 CA9281757	535	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758642170 CA9281761	537	R>T		No	ClinGen ExAC
CA9281762 rs373274342	539	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1443501260 CA404621393	540	F>L		No	ClinGen TOPMed
rs371938960 CA404621469	544	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9281765 rs148029259	544	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371938960 CA9281764	544	R>W		No	ClinGen ExAC TOPMed gnomAD
CA404621479 rs1334161744	545	K>Q		No	ClinGen TOPMed gnomAD
CA9281766 rs750875351	546	W>R		No	ClinGen ExAC TOPMed gnomAD
rs371674563 CA9281767	547	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs371674563 CA404621528	547	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs780318414 CA9281768	547	A>V		No	ClinGen ExAC gnomAD
CA404621625 rs1599464446	550	T>N		No	ClinGen Ensembl
TCGA novel	551	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA306003665 rs62118247	552	P>L		No	ClinGen Ensembl
CA404621655 rs1441323906	552	P>S		No	ClinGen TOPMed
CA404621672 rs1301910802	553	V>I		No	ClinGen gnomAD
rs746573085 CA9281773	554	P>L		No	ClinGen ExAC TOPMed gnomAD
CA9281774 rs746573085	554	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA9281772 rs746573085	554	P>R		No	ClinGen ExAC TOPMed gnomAD
CA9281778 rs762670499	556	A>D		No	ClinGen ExAC gnomAD
TCGA novel	556	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1252871363 CA404621735	558	T>I		No	ClinGen TOPMed gnomAD
rs560096144 CA404621742	559	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs560096144 CA9281780	559	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	562	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9281781 rs141300843	563	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9281782 rs141300843	563	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA404621863 rs780539784	564	H>Q		No	ClinGen ExAC gnomAD
rs756605287 CA9281784	564	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1426984336 CA404621880	565	Q>R		No	ClinGen gnomAD
TCGA novel	566	L>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404621917 rs1485576071	567	C>R		No	ClinGen TOPMed
rs1279168048 CA404621937	568	T>A		No	ClinGen gnomAD
CA404621930 rs1279168048	568	T>P		No	ClinGen gnomAD
CA9281786 rs754318208	569	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9281787 rs147054413	569	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA404621995 rs147054413	569	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA404622087 rs1315370280	574	H>Y		No	ClinGen TOPMed
TCGA novel	575	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770575519 CA404622123 CA9281791	575	G>R		No	ClinGen ExAC TOPMed gnomAD
CA9281790 rs770575519	575	G>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	578	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404622235 CA404622240 rs138297508	579	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9281793 rs138297508	579	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1326638570 CA404622282	580	A>V		No	ClinGen gnomAD
CA404622328 rs1223069719	582	V>G		No	ClinGen gnomAD
rs143795871 CA9281798 CA404622325	582	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9281797 rs143795871 COSM271865	582	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs767734483 CA9281799	584	G>V		No	ClinGen ExAC gnomAD
CA9281800 rs150379147	585	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760800433 CA9281801	586	I>V		No	ClinGen ExAC TOPMed
CA306003881 rs970825122	588	S>F		No	ClinGen TOPMed gnomAD
CA404622474 rs865915852	589	S>F		No	ClinGen TOPMed
CA306003883 rs865915852	589	S>Y		No	ClinGen TOPMed
CA9281803 rs754371654	590	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA404622482 rs754371654	590	R>G		No	ClinGen ExAC TOPMed gnomAD
rs562796972 CA9281805	590	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs562796972 CA9281804	590	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA306008831 rs548526933	591	H>D		No	ClinGen Ensembl
rs776805006 CA306008836	592	G>R		No	ClinGen ExAC TOPMed gnomAD
rs776805006 CA9281821	592	G>S		No	ClinGen ExAC TOPMed gnomAD
CA9281823 rs376731145	593	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9281822 rs376731145	593	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs534272877 CA9281824	594	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs534272877 CA404625202	594	S>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA306008907 rs201427361	596	A>G		No	ClinGen TOPMed gnomAD
CA306008911 rs201427361	596	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs779559959 CA9281829	600	D>G		No	ClinGen ExAC TOPMed gnomAD
rs755667098 CA9281828	600	D>N		No	ClinGen ExAC gnomAD
rs748753039 CA9281830	601	V>I		No	ClinGen ExAC gnomAD
CA404625510 rs1449745448	603	S>C		No	ClinGen TOPMed
CA404625507 rs1371133692	603	S>T		No	ClinGen gnomAD
rs1322833510 CA404625577	606	D>E		No	ClinGen gnomAD
rs138983442 CA9281832	606	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1205565152 CA404625588	607	E>Q		No	ClinGen TOPMed
rs1017138202 CA306008988	608	V>A		No	ClinGen Ensembl
rs771873115 CA9281834	608	V>L		No	ClinGen ExAC
TCGA novel CA9281836 rs773357780	610	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
CA9281837 rs747279362	611	D>N		No	ClinGen ExAC gnomAD
CA9281838 rs771239999	612	V>M		No	ClinGen ExAC gnomAD
rs1481917443 CA404625805	613	Y>H		No	ClinGen gnomAD
rs776856455 CA306009005	614	R>*		No	ClinGen ExAC gnomAD
rs1412070963 CA404625888	615	D>V		No	ClinGen gnomAD
CA9281841 rs143485522	616	W>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	616	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs576856479 CA306009011	617	T>A		No	ClinGen Ensembl
TCGA novel	617	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs576856479 CA404625973	617	T>P		No	ClinGen Ensembl
rs776060633 CA9281842	618	P>L		No	ClinGen ExAC gnomAD
CA404626025 rs763266746	619	P>H		No	ClinGen ExAC gnomAD
rs763266746 CA9281843	619	P>R		No	ClinGen ExAC gnomAD
rs1227142680 CA404626020	619	P>S		No	ClinGen TOPMed
CA404626068 rs1169511993	620	S>R		No	ClinGen gnomAD
CA404626234 rs1352487269	625	R>C		No	ClinGen TOPMed gnomAD
CA9281845 rs764495804	625	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs764495804 CA9281844	625	R>L		No	ClinGen ExAC TOPMed gnomAD
CA404626282 rs61736006	626	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1599479971 CA404626271	626	F>S		No	ClinGen Ensembl
rs556816698 CA9281848	627	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9281847 rs556816698	627	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA404626338 rs1214149662	631	W>C		No	ClinGen gnomAD
rs1017314653 CA306009096	632	V>A		No	ClinGen Ensembl
rs752661454 CA9281852	633	R>Q		No	ClinGen ExAC gnomAD
rs577336005 CA9281851 COSM3772533	633	R>W	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
TCGA novel	634	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758222699 CA9281853	634	L>V		No	ClinGen ExAC gnomAD
CA404626368 rs1369036825	635	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1023197497 CA306009115	635	R>H		No	ClinGen TOPMed
CA404626384 rs777657124	636	R>G		No	ClinGen ExAC TOPMed gnomAD
CA404626398 rs1196694107	636	R>P		No	ClinGen TOPMed gnomAD
CA404626393 rs777657124	636	R>W		No	ClinGen ExAC TOPMed gnomAD
CA404626433 rs1270353216	637	D>G		No	ClinGen gnomAD
rs1568358964 CA404626530	640	Y>C		No	ClinGen Ensembl
rs1416948309 CA404626556	641	Y>C		No	ClinGen gnomAD
rs1023072328 CA306009132	643	A>G		No	ClinGen Ensembl
rs144804746 CA9281860	644	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA9281859 rs746011876	644	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1268084522 CA404626671	645	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA404626709 rs1305050881	646	P>S		No	ClinGen gnomAD
rs1430283107 CA404626745	647	V>A		No	ClinGen gnomAD
rs775908322 CA9281861	648	D>G		No	ClinGen ExAC gnomAD
rs1215571714 CA404626845	651	T>I		No	ClinGen gnomAD
CA404626836 rs1599480246	651	T>P		No	ClinGen Ensembl
rs1203601054 CA404626905	654	A>P		No	ClinGen TOPMed
rs969461260 CA306009172	655	I>V		No	ClinGen TOPMed gnomAD
CA404626949 rs1451747483	656	A>T		No	ClinGen gnomAD
rs1191834333 CA404626982	658	R>G		No	ClinGen gnomAD
rs1237451438 CA404627295	659	Q>K		No	ClinGen gnomAD
rs769216804 CA9281881	662	E>K		No	ClinGen ExAC gnomAD
CA9281882 rs144054207	663	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147856994 CA9281883	665	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772407281 CA9281884	665	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM3284931 rs773520131 CA9281885	667	R>C	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs759220842 CA9281886 COSM1391306	667	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs775081121 CA9281888	670	S>*		No	ClinGen ExAC gnomAD
rs1365861797 CA404627445	671	G>R		No	ClinGen TOPMed gnomAD
rs536327337 CA9281891	672	S>F		No	ClinGen 1000Genomes ExAC gnomAD
rs764158829 CA9281890	672	S>T		No	ClinGen ExAC gnomAD
rs74887865 CA9281892	673	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA404627493 rs1204176689	674	R>T		No	ClinGen TOPMed
rs767441760 CA9281893	675	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1390168894 CA404627517	676	K>R		No	ClinGen gnomAD
rs575310279 CA9281895	680	V>F		No	ClinGen 1000Genomes ExAC gnomAD
rs575310279 CA9281894	680	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA306011162 rs890827581	681	L>P		No	ClinGen Ensembl
rs564613896 CA9281897	683	D>N		No	ClinGen ExAC TOPMed gnomAD
rs564613896 CA9281898	683	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1207569452 CA404627626	684	F>Y		No	ClinGen gnomAD
CA404627691 rs1256372112	689	W>*		No	ClinGen TOPMed gnomAD
CA404627698 rs1455008359	689	W>*		No	ClinGen TOPMed
CA9281901 rs748679433	690	S>N		No	ClinGen ExAC gnomAD
rs772531165 CA9281903	691	Q>*		No	ClinGen ExAC gnomAD
CA404627739 rs773573154	692	G>C		No	ClinGen ExAC TOPMed gnomAD
CA9281904 rs773573154	692	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1190873117 CA404627756	693	T>S		No	ClinGen gnomAD
rs775001902 CA9281909	694	K>E		No	ClinGen ExAC gnomAD
CA404627774 rs1481547600	694	K>N		No	ClinGen gnomAD
rs762564679 CA9281911	695	K>E		No	ClinGen ExAC gnomAD
rs762564679 CA9281910	695	K>Q		No	ClinGen ExAC gnomAD
rs761871402 CA9281914	696	L>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	700	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767493015 CA9281917	701	L>F		No	ClinGen ExAC TOPMed gnomAD
CA9281916 rs767493015	701	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9281920 rs766686156	702	V>A		No	ClinGen ExAC gnomAD
rs766686156 CA9281919	702	V>G		No	ClinGen ExAC gnomAD
rs755844911 CA9281918	702	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1185551934 CA404627834	703	G>W		No	ClinGen TOPMed
rs755182529 CA9281921	704	K>E		No	ClinGen ExAC gnomAD
CA9281923 rs139860160	707	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9281925 rs151137165	709	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	709	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404627870 rs1276470089	709	D>N		No	ClinGen gnomAD
rs777897918 CA9281926	710	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9281927 rs140411452	710	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1352561326 CA404627880	711	K>Q		No	ClinGen TOPMed
rs1306401394 CA404628202	712	V>E		No	ClinGen gnomAD
CA404628210 rs1268256415	713	A>T		No	ClinGen gnomAD
rs1315275018 CA404628221	713	A>V		No	ClinGen gnomAD
CA9281954 rs149947650	714	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1254507084 CA404628236	715	Q>*		No	ClinGen gnomAD
CA9281955 rs770837045	715	Q>L		No	ClinGen ExAC gnomAD
CA404628261 rs1483875042	716	P>L		No	ClinGen gnomAD
rs776307020 CA9281956	718	W>*		No	ClinGen ExAC gnomAD
rs1442138841 CA404628333	721	H>R		No	ClinGen gnomAD
CA9281957 rs763311682	721	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA306012388 rs145011343	722	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs145011343 CA9281959	722	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
RCV000964056 CA9281961 rs141835953	723	V>F		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs757707682 CA9281963	725	N>S		No	ClinGen ExAC gnomAD
CA9281966 rs756540559	727	R>L		No	ClinGen ExAC TOPMed gnomAD
rs756540559 CA404628406	727	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM992524 CA9281965 rs373800351	727	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs778744141 CA9281967	729	L>R		No	ClinGen ExAC gnomAD
rs567440214 CA404628462	732	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA306012445 rs1055645238	732	L>S		No	ClinGen TOPMed
rs777154627 CA9281970	733	P>A		No	ClinGen ExAC TOPMed gnomAD
CA306012474 rs1014052892	734	Y>C		No	ClinGen Ensembl
rs111332125 CA306012475 COSM3284953	738	H>R	Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs746473346 CA404628536	739	S>*		No	ClinGen ExAC TOPMed gnomAD
CA9281971 rs746473346	739	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1420577465 CA404628533	739	S>P		No	ClinGen TOPMed
CA9281974 rs745703708	741	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9281975 rs769555044	741	R>H		No	ClinGen ExAC TOPMed gnomAD
COSM1524471 CA404628557 rs769555044	741	R>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA404628555 rs769555044	741	R>P		No	ClinGen ExAC TOPMed gnomAD
CA9281976 rs775215662	743	E>K		No	ClinGen ExAC gnomAD
rs1599487901 CA404628573	743	E>V		No	ClinGen Ensembl
rs946572489 CA306012522	744	E>K		No	ClinGen TOPMed
CA9281977 rs147064227	747	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM992526 rs1488435497 CA404628625	748	E>G	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA306012537 rs868285101	748	E>K		No	ClinGen Ensembl
CA9281979 rs774306265	749	V>A		No	ClinGen ExAC gnomAD
TCGA novel	753	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779952892 CA9282014	753	M>V		No	ClinGen ExAC gnomAD
rs368195388 CA9282016	759	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs767479697 CA9282015	759	R>W		No	ClinGen ExAC gnomAD
rs532707038 CA306013508	760	G>S		No	ClinGen TOPMed gnomAD
CA9282017 rs779049529	761	I>T		No	ClinGen ExAC gnomAD
CA9282018 rs201801544	763	G>E		No	ClinGen ExAC TOPMed gnomAD
CA306013512 rs1051808273	764	G>D		No	ClinGen Ensembl
rs772122055 CA9282019	765	I>T		No	ClinGen ExAC gnomAD
CA9282020 rs773441169	766	E>G		No	ClinGen ExAC gnomAD
CA9282021 rs760828435	767	D>E		No	ClinGen ExAC gnomAD
CA9282022 rs771636545	768	L>M		No	ClinGen ExAC gnomAD
CA306013540 rs371795378	769	L>P		No	ClinGen ESP TOPMed gnomAD
rs777247010 CA9282023	770	D>G		No	ClinGen ExAC gnomAD
CA9282024 rs759868052	772	F>V		No	ClinGen ExAC gnomAD
CA9282026 rs752965700	773	D>E		No	ClinGen ExAC gnomAD
CA9282025 rs765658420	773	D>H		No	ClinGen ExAC gnomAD
CA404629033 rs765658420	773	D>Y		No	ClinGen ExAC gnomAD
CA306013552 rs767023525	774	L>M		No	ClinGen Ensembl
rs1568363634 CA404629059	775	C>W		No	ClinGen Ensembl
rs1196870681 CA404629072	777	P>T		No	ClinGen TOPMed gnomAD
CA9282028 rs552018804	778	H>N		No	ClinGen 1000Genomes ExAC gnomAD
CA404629090 CA404629091 rs1440641790	778	H>Q		No	ClinGen gnomAD
CA404629099 rs1259682855	779	L>P		No	ClinGen TOPMed
CA404629117 rs1208907266	781	S>F		No	ClinGen TOPMed
TCGA novel	783	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749993476 CA9282031	785	G>D		No	ClinGen ExAC gnomAD
rs1414505911 CA404629160	786	L>M		No	ClinGen gnomAD
rs565659374 CA9282034	787	V>A		No	ClinGen 1000Genomes ExAC gnomAD
CA9282033 rs780003997	787	V>I		No	ClinGen ExAC gnomAD
rs138432345 CA9282036	788	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs138432345 CA404629178	788	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs369799191 COSM992528 CA9282037	788	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs373324211 CA9282038	791	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	792	Q>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1227386199 CA404629226	793	L>F		No	ClinGen TOPMed
rs1394139832 CA404629235	794	C>R		No	ClinGen TOPMed gnomAD
CA306013617 rs908445978	794	C>Y		No	ClinGen TOPMed
rs142432549 CA9282040	795	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9282039 rs142432549	795	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM3284966 CA9282041 rs771113312	795	R>H	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1255196419 CA404629253	796	P>A		No	ClinGen gnomAD
CA9282042 rs776805099	796	P>L		No	ClinGen ExAC gnomAD
rs1279306785 CA404629286	799	E>G		No	ClinGen gnomAD
rs760122543 CA9282044	799	E>Q		No	ClinGen ExAC gnomAD
rs146432139 CA9282046	801	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9282047 rs763214334	801	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1568363855 CA404629332	803	M>I		No	ClinGen Ensembl
CA404629320 rs1475653441	803	M>V		No	ClinGen TOPMed
CA404611273 rs749701483	805	R>G		No	ClinGen ExAC TOPMed gnomAD
rs768983348 CA9282066	806	S>N		No	ClinGen ExAC gnomAD
rs760349128 CA9282068	809	Y>H		No	ClinGen ExAC gnomAD
CA404611404 rs1323972844	811	E>G		No	ClinGen gnomAD
rs939037294 CA305981962	811	E>Q		No	ClinGen Ensembl
CA404611429 rs1364275370	812	L>Q		No	ClinGen gnomAD
CA9282069 rs765946181	813	L>P		No	ClinGen ExAC TOPMed gnomAD
CA9282070 rs776265398	814	A>S		No	ClinGen ExAC gnomAD
rs187115150 CA9282071	815	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1056026261 CA305981964	816	L>P		No	ClinGen TOPMed gnomAD
rs374029844 CA404611568	818	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA404611600 rs1568368837	819	F>V		No	ClinGen Ensembl
COSM3403894 rs139109286 CA9282074	820	A>T	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA gnomAD
rs1200995384 CA404611636	820	A>V		No	ClinGen gnomAD
rs141584843 CA305981976	821	T>I		No	ClinGen ESP
rs764013265 CA9282075	822	S>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	824	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751334113 CA9282076	824	P>T		No	ClinGen ExAC gnomAD
rs1352839008 CA404611778	825	A>T		No	ClinGen TOPMed
CA9282077 COSM353992 rs757566024	828	G>*	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA9282078 rs149897388	828	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA404611910 rs1163475818	829	Q>E		No	ClinGen gnomAD
rs1366134003 CA404612151	834	A>T		No	ClinGen gnomAD
TCGA novel	836	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1163537370 CA404612361	841	C>S		No	ClinGen gnomAD
CA404612392 rs144961672	841	C>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	842	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9282081 rs780656197 COSM1564637	842	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA9282082 rs191976059	843	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1338352583 CA404612452	843	H>Y		No	ClinGen TOPMed
CA9282083 rs142997351	847	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA404612577 rs1395330421	848	P>T		No	ClinGen TOPMed gnomAD
rs1456106036 CA404612600	849	L>F		No	ClinGen gnomAD
rs148765608 CA9282085 COSM4138205	850	G>R	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs770639641 CA9282086	851	G>R		No	ClinGen ExAC gnomAD
CA9282087 rs776120610	853	L>F		No	ClinGen ExAC
rs1568368986 CA404612762	854	Q>H		No	ClinGen Ensembl
rs759139370 CA9282088	855	P>S		No	ClinGen ExAC gnomAD
CA9282090 rs775026034	856	P>A		No	ClinGen ExAC gnomAD
rs556747373 COSM1259753 CA9282091	856	P>L	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
CA9282092 rs556747373	856	P>R		No	ClinGen ExAC TOPMed
CA9282096 rs534080341	857	G>A		No	ClinGen 1000Genomes ExAC gnomAD
CA9282095 rs534080341	857	G>E		No	ClinGen 1000Genomes ExAC gnomAD
CA404612887 rs1599503393	857	G>R		No	ClinGen Ensembl
TCGA novel	858	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1425087153 CA404612921	858	G>V		No	ClinGen gnomAD
CA404612936 rs1448942093	859	P>L		No	ClinGen TOPMed
rs750588008 CA9282097	859	P>S		No	ClinGen ExAC TOPMed gnomAD
CA9282100 rs371438099	861	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs780024373 CA9282099	861	R>W		No	ClinGen ExAC TOPMed gnomAD
CA9282101 rs755485664	863	T>A		No	ClinGen ExAC TOPMed gnomAD
rs755485664 CA9282102	863	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1465357407 CA404613020	864	L>V		No	ClinGen gnomAD
CA9282103 CA9282105 rs748554817	865	S>R		No	ClinGen ExAC TOPMed gnomAD
CA9282106 rs146121969	866	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769423399 CA9282107	867	C>F		No	ClinGen ExAC gnomAD
rs1287761066 CA404613100	867	C>R		No	ClinGen gnomAD
CA404613094 rs1287761066	867	C>S		No	ClinGen gnomAD
rs1599503534 CA404613136	867	C>W		No	ClinGen Ensembl
rs775155663 CA9282108	868	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA9282109 rs762537699	869	K>R		No	ClinGen ExAC gnomAD
CA404615558 rs1206656027	870	G>D		No	ClinGen TOPMed gnomAD
CA404615577 rs1206656027	870	G>V		No	ClinGen TOPMed gnomAD
CA404615640 rs1599517944	872	T>P		No	ClinGen Ensembl
rs368633239 CA9282125	873	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA9282124 rs374502216	873	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA
CA9282127 rs768257960	874	M>T		No	ClinGen ExAC TOPMed
TCGA novel	877	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	877	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9282129 rs1555727853	878	V>E		No	ClinGen Ensembl
CA9282128 rs773949805	878	V>L		No	ClinGen ExAC TOPMed gnomAD
CA404615909 rs773949805	878	V>M		No	ClinGen ExAC TOPMed gnomAD
CA404615976 rs1388223251	880	E>V		No	ClinGen gnomAD
CA9282134 rs761682934	881	K>E		No	ClinGen ExAC gnomAD
CA9282136 rs772893531	882	L>M		No	ClinGen ExAC gnomAD
rs760502887 CA9282138	883	L>P		No	ClinGen ExAC TOPMed gnomAD
rs766630044 CA9282139	884	V>A		No	ClinGen ExAC TOPMed gnomAD
rs766630044 CA404616223	884	V>G		No	ClinGen ExAC TOPMed gnomAD
CA305987079 rs891416280	887	T>N		No	ClinGen Ensembl
rs1488886729 CA404616385	889	D>N		No	ClinGen TOPMed gnomAD
CA9282141 rs139880000	892	M>V		No	ClinGen ESP TOPMed gnomAD
rs765336006 CA9282144	894	V>A		No	ClinGen ExAC gnomAD
CA9282143 rs759709330	894	V>L		No	ClinGen ExAC gnomAD
CA9282145 rs752708944	895	W>*		No	ClinGen ExAC gnomAD
rs1228232548 CA404616686	896	D>G		No	ClinGen TOPMed
CA404616817 rs1327026522	898	E>*		No	ClinGen TOPMed
CA9282147 rs372313482	899	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA9282146 rs758844189	899	E>K		No	ClinGen ExAC gnomAD
VAR_036772 rs773930 CA9282148	900	Q>E		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA9282149 rs757609952	901	H>R		No	ClinGen ExAC gnomAD
rs748970752 CA9282151	902	V>E		No	ClinGen ExAC
CA305987142 rs144449044	905	M>I		No	ClinGen ESP TOPMed
CA9282154 rs200792163	908	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9282153 rs778568082	908	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs377642593 CA305987154	909	H>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9282155 rs377642593	909	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA404621848 rs1212367029	912	E>V		No	ClinGen TOPMed gnomAD
rs1454803792 CA404621884	913	V>G		No	ClinGen TOPMed
CA9282175 rs373158027	914	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	914	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9282176 rs770792857	915	C>Y		No	ClinGen ExAC gnomAD
CA305995115 rs780170961	916	V>E		No	ClinGen Ensembl
rs1414438508 CA404621992	918	I>V		No	ClinGen gnomAD
CA404622099 rs1283462801	921	K>*		No	ClinGen TOPMed
CA9282177 rs377158506	921	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA404622165 rs1416596882	924	L>F		No	ClinGen TOPMed gnomAD
rs112298174 COSM1391315 CA9282180	925	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA9282181 VAR_036773 rs2608737	926	N>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2608737 CA404622223	926	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA404622222 rs2608737	926	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs542807546 CA9282182	930	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA9282183 rs140602425	931	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA9282184 rs144463947	933	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA404622449 rs1342805623	934	L>P		No	ClinGen gnomAD
CA9282186 rs114371613	935	H>N		No	ClinGen 1000Genomes TOPMed gnomAD
VAR_036774 rs2608738 CA9282189	935	H>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA9282187 rs114371613	935	H>Y		No	ClinGen 1000Genomes TOPMed gnomAD
rs1381034011 CA404622546	937	W>G		No	ClinGen TOPMed
rs1280950594 CA404622621	940	L>P		No	ClinGen gnomAD
rs1272162308 CA404622642	942	G>S		No	ClinGen Ensembl
rs1039406542 CA305995166	944	E>K		No	ClinGen Ensembl
rs899509287 CA305995175	945	K>R		No	ClinGen Ensembl
CA404622770 rs1203071450	946	F>L		No	ClinGen gnomAD
CA9282190 rs761113256	947	T>A		No	ClinGen ExAC gnomAD
rs201205274 CA305995197	948	I>V		No	ClinGen Ensembl
CA305995212 rs138995280	949	W>*		No	ClinGen Ensembl
rs564513398 CA9282192	950	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs747814937 CA305995227	955	N>S		No	ClinGen TOPMed gnomAD
CA9282193 rs757951080	956	P>L		No	ClinGen ExAC gnomAD
CA305995232 rs867405069	956	P>T		No	ClinGen Ensembl
rs145720941 CA9282195	957	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1390082796 CA404623121	960	Q>H		No	ClinGen TOPMed gnomAD
CA404623147 rs757244606	961	I>M		No	ClinGen ExAC TOPMed gnomAD
CA404623141 rs1428592512	961	I>T		No	ClinGen gnomAD
rs781104485 CA9282198	962	W>*		No	ClinGen ExAC gnomAD
CA404623193 rs1383094348	963	N>H		No	ClinGen TOPMed
rs1322660465 CA404623215	964	L>F		No	ClinGen TOPMed gnomAD
rs1322660465 CA404623210	964	L>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1329202161 CA404623278	966	V>G		No	ClinGen gnomAD
rs1442797881 CA404623301	967	D>V		No	ClinGen gnomAD
rs148917048 CA9282199	968	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1568382136 CA404623354	970	H>Y		No	ClinGen Ensembl
CA305995308 rs1001053642	971	K>I		No	ClinGen TOPMed
CA404623407 rs1568382155	973	V>A		No	ClinGen Ensembl
CA9282200 rs769552848	977	S>C		No	ClinGen ExAC TOPMed gnomAD
CA404623485 rs1293229705	978	G>D		No	ClinGen TOPMed
rs201105182 CA9282202	979	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1005074310 CA305995343	979	S>P		No	ClinGen Ensembl
CA404623517 rs1470150365	980	K>E		No	ClinGen gnomAD
rs1269998353 CA404624543	982	N>D		No	ClinGen gnomAD
rs1568383741 CA404624624	984	W>*		No	ClinGen Ensembl
CA9282221 rs778996786	984	W>C		No	ClinGen ExAC gnomAD
rs866251525 CA305997236	987	E>K		No	ClinGen Ensembl
CA404624787 rs1462640052	988	T>P		No	ClinGen gnomAD
CA9282224 rs138501905	990	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA9282223 rs772302956	990	E>Q		No	ClinGen ExAC gnomAD
CA9282225 rs199821486	991	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs199821486 CA404624860	991	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA404625020 rs777116424	994	H>L		No	ClinGen ExAC TOPMed gnomAD
rs777116424 CA9282227	994	H>R		No	ClinGen ExAC TOPMed gnomAD
CA404624982 rs1385545037	994	H>Y		No	ClinGen gnomAD
CA9282228 rs759818736	995	I>N		No	ClinGen ExAC gnomAD
CA404625100 rs1234059380	997	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA404625413 rs1179487465	1003	W>*		No	ClinGen TOPMed gnomAD
rs773973753 CA9282230	1003	W>L		No	ClinGen ExAC gnomAD
rs1056916270 CA305997277	1004	M>I		No	ClinGen gnomAD
CA404625487 rs1472666203	1005	C>F		No	ClinGen gnomAD
rs1261856691 CA404625532	1006	M>T		No	ClinGen gnomAD
CA404625501 rs1443061316	1006	M>V		No	ClinGen TOPMed
CA305997301 rs866100367	1007	A>V		No	ClinGen TOPMed gnomAD
rs574827018 CA9282233	1008	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9282234 rs749865035	1009	L>V		No	ClinGen ExAC TOPMed gnomAD
rs766213010 CA9282236	1010	A>D		No	ClinGen ExAC gnomAD
CA9282235 rs756087708	1010	A>T		No	ClinGen ExAC TOPMed gnomAD
CA404625687 rs766213010	1010	A>V		No	ClinGen ExAC gnomAD
rs367939338 CA9282237	1013	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA9282238 rs754696189	1014	T>I		No	ClinGen ExAC gnomAD
CA9282239 rs779324661	1017	T>K		No	ClinGen ExAC gnomAD
CA404625922 rs1599539906	1017	T>S		No	ClinGen Ensembl
CA9282240 rs748414583	1019	S>F		No	ClinGen ExAC gnomAD
TCGA novel	1020	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9282241 rs758628488	1022	G>C		No	ClinGen ExAC gnomAD
CA9282242 rs778014209	1023	V>A		No	ClinGen ExAC gnomAD
rs747072077 CA9282243	1024	V>F		No	ClinGen ExAC TOPMed gnomAD
rs771539822 CA9282244	1025	S>G		No	ClinGen ExAC gnomAD
CA9282245 rs776976497	1026	L>M		No	ClinGen ExAC gnomAD
rs759322511 CA305997356	1027	W>C		No	ClinGen Ensembl
rs746295724 CA9282246	1028	S>T		No	ClinGen ExAC
CA404626506 rs1312126633	1030	A>T		No	ClinGen gnomAD
COSM438848 CA9282247 rs770074174	1031	T>M	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA305997365 rs866682805	1032	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs914988566 CA305997386	1036	G>E		No	ClinGen TOPMed
CA404626698 rs1375347206	1036	G>R		No	ClinGen TOPMed
TCGA novel	1041	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9282250 rs145127193	1041	S>Y		No	ClinGen ESP ExAC gnomAD
CA305997408 rs867664250	1045	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA404627049 rs1479427232	1046	E>G		No	ClinGen gnomAD
CA404627063 rs1178746397	1047	T>A		No	ClinGen gnomAD
rs1250894082 CA404627067	1047	T>I		No	ClinGen gnomAD
rs954247599 CA305997415	1049	T>P		No	ClinGen Ensembl
CA9282251 rs772766542	1050	C>R		No	ClinGen ExAC gnomAD
CA404627137 rs1410562918	1052	V>A		No	ClinGen gnomAD
CA9282253 rs181694927	1052	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765130872 CA9282256	1054	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1055	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1444550255 CA404627177	1057	Q>K		No	ClinGen gnomAD
rs758751443 CA404627188	1058	G>A		No	ClinGen ExAC TOPMed gnomAD
rs758751443 CA9282258	1058	G>E		No	ClinGen ExAC TOPMed gnomAD
CA9282259 rs377014055	1059	K>N		No	ClinGen ExAC gnomAD
CA404627194 rs1256684409	1059	K>R		No	ClinGen TOPMed
CA9282260 rs374823996	1062	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9282262 rs367619006 CA404627214	1063	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA9282263 rs367619006	1063	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA404627229 rs1273213632	1065	S>N		No	ClinGen TOPMed gnomAD
CA404627231 rs1273213632	1065	S>T		No	ClinGen TOPMed gnomAD
CA9282264 rs770216491	1067	G>D		No	ClinGen ExAC gnomAD
CA9282265 rs184832335	1069	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1070	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9282266 rs749636336	1071	L>S		No	ClinGen ExAC gnomAD
rs1395765680 CA404627900	1072	V>F		No	ClinGen gnomAD
rs1457035474 CA404627909	1073	S>F		No	ClinGen gnomAD
rs1347432789 CA404627925	1075	K>N		No	ClinGen TOPMed gnomAD
rs529201209 CA9282284	1075	K>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA404627932 rs1432326413	1076	G>E		No	ClinGen gnomAD
CA404627938 rs1340084206	1077	D>N		No	ClinGen TOPMed
CA9282287 rs746648153	1079	L>F		No	ClinGen ExAC TOPMed gnomAD
rs779286249 CA9282286	1079	L>S		No	ClinGen ExAC gnomAD
rs1335286041 CA404628054	1084	P>S		No	ClinGen TOPMed gnomAD
CA404628062 rs1391232640	1085	D>N		No	ClinGen TOPMed
CA9282289 rs776063380	1086	A>G		No	ClinGen ExAC
CA404628076 rs1207840827	1086	A>T		No	ClinGen gnomAD
CA404628094 rs1282099190	1087	V>A		No	ClinGen TOPMed gnomAD
CA404628087 rs1164754745	1087	V>M		No	ClinGen TOPMed
CA404628099 rs998282072	1088	R>G		No	ClinGen TOPMed
CA404628111 rs1448610129	1088	R>S		No	ClinGen gnomAD
rs998282072 CA306000285	1088	R>W		No	ClinGen TOPMed
rs759082341 CA9282290	1089	F>V		No	ClinGen ExAC TOPMed gnomAD
rs1484731472 CA404628142	1090	L>P		No	ClinGen TOPMed gnomAD
CA9282291 rs769896278	1091	V>E		No	ClinGen ExAC gnomAD
rs1157153172 CA404628174	1093	S>A		No	ClinGen gnomAD
rs1188531473 CA404628182	1093	S>F		No	ClinGen TOPMed
rs762938287 CA9282293	1097	S>F		No	ClinGen ExAC gnomAD
CA306000304 rs1046605418	1098	L>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA9282295 rs375297656	1099	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs191339575 CA404628339	1100	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA9282298 rs191339575	1100	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA306000394 rs780587163	1101	A>S		No	ClinGen ExAC TOPMed gnomAD
COSM992544 CA9282300 rs780587163	1101	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA9282302 rs551065697	1102	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9282301 rs551065697	1102	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9282324 rs777955571	1104	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1398147593 CA404629381	1105	R>I		No	ClinGen TOPMed gnomAD
rs1398147593 CA404629379	1105	R>K		No	ClinGen TOPMed gnomAD
CA9282326 rs745549948	1106	S>*		No	ClinGen ExAC TOPMed gnomAD
COSM1611753 CA9282327 rs745549948	1106	S>L	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA9282330 rs536305657	1108	R>Q	Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs779720780 CA9282329	1108	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs139043759 CA9282331	1109	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9282332 rs774310950	1110	F>Y		No	ClinGen ExAC gnomAD
rs747941945 CA9282333	1112	A>V		No	ClinGen ExAC gnomAD
rs772949434 CA9282335	1113	D>G		No	ClinGen ExAC gnomAD
CA9282336 COSM3822228 rs548514304	1114	S>L	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA404629436 rs1470104928	1115	R>K		No	ClinGen gnomAD
CA404629441 rs1214925408	1116	G>S		No	ClinGen gnomAD
rs568405169 CA9282338	1118	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA9282339 rs143111258	1118	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9282340 rs143872492	1119	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs576850705 CA9282342	1119	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs576850705 CA9282341	1119	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200366855 CA306002897	1120	F>Y		No	ClinGen Ensembl
CA9282345 rs755885608	1121	M>I		No	ClinGen ExAC gnomAD
rs762110086 CA404629471	1121	M>R		No	ClinGen ExAC gnomAD
rs762110086 CA9282344	1121	M>T		No	ClinGen ExAC gnomAD
CA9282343 rs539537559	1121	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA306002944 rs867626283	1122	A>D		No	ClinGen Ensembl
rs1326539499 CA404629479	1123	M>V		No	ClinGen gnomAD
CA306002948 rs960532629	1125	L>P		No	ClinGen TOPMed
CA404629511 rs1472271827	1127	H>P		No	ClinGen TOPMed
rs866274829 CA306002950	1129	D>G		No	ClinGen TOPMed gnomAD
CA404629536 CA9282348 rs754488841	1130	M>I		No	ClinGen ExAC TOPMed gnomAD
rs553266612 CA9282347	1130	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA404629532 rs1297740416	1130	M>V		No	ClinGen TOPMed gnomAD
rs778237979 CA9282349	1131	V>A		No	ClinGen ExAC gnomAD
rs1291656502 CA404629540	1131	V>L		No	ClinGen gnomAD
CA9282352 rs140641936	1133	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA9282351 rs140641936	1133	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA9282353 rs73008597	1134	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1263143547 CA404629565	1135	V>G		No	ClinGen gnomAD
rs771183303 CA9282354	1138	T>S		No	ClinGen ExAC
rs147828282 CA9282356	1139	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1415167277 CA404629590	1139	E>D		No	ClinGen gnomAD
CA9282355 rs147828282	1139	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9282357 rs769952019	1141	N>I		No	ClinGen ExAC gnomAD
CA9282358 CA306002997 rs775368397	1141	N>K		No	ClinGen ExAC TOPMed
CA9282361 rs1437122573	1145	T>M		No	ClinGen TOPMed
rs752035008 CA9282364	1146	G>A		No	ClinGen ExAC gnomAD
COSM1711997 CA9282365 rs762233189	1147	S>F	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1385837435 CA404629633	1147	S>T		No	ClinGen TOPMed gnomAD
CA404629638 rs1404590022	1148	L>I		No	ClinGen TOPMed
CA404629660 rs1357564656	1149	D>E		No	ClinGen gnomAD
rs544183011 CA9282368	1150	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1315667767 CA404629679	1151	L>F		No	ClinGen gnomAD
CA404629715 rs752088956	1153	Q>H		No	ClinGen ExAC gnomAD
rs1365570149 CA404629709	1153	Q>P		No	ClinGen gnomAD
rs1300910760 CA404630028	1155	W>*		No	ClinGen TOPMed
CA404630048 rs1397042105	1158	S>*		No	ClinGen gnomAD
rs112894669 CA306007582	1160	Q>H		No	ClinGen Ensembl
rs1447997828 CA404630083	1164	L>M		No	ClinGen gnomAD
rs1195752945 CA404630086	1164	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs891923152 CA306007586	1166	I>T		No	ClinGen gnomAD
CA306007584 rs746146063	1166	I>V		No	ClinGen Ensembl
rs950173956 CA306007590	1167	L>M		No	ClinGen TOPMed gnomAD
CA9282389 rs757882385	1169	G>S		No	ClinGen ExAC gnomAD
rs1314099569 CA404630121	1170	V>A		No	ClinGen TOPMed
rs751532845 CA404630118	1170	V>F		No	ClinGen ExAC TOPMed gnomAD
rs751532845 CA9282391	1170	V>I		No	ClinGen ExAC TOPMed gnomAD
CA9282393 rs780981698 COSM992550	1171	G>R	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1173354323 CA404630128	1172	A>T		No	ClinGen TOPMed
rs1219275594 CA404630131	1172	A>V		No	ClinGen gnomAD
CA404630145 rs1568390776	1174	V>G		No	ClinGen Ensembl
CA404630141 rs1305351556	1174	V>L		No	ClinGen TOPMed gnomAD
rs1305351556 CA404630140	1174	V>M		No	ClinGen TOPMed gnomAD
rs375958432 CA9282395	1175	S>G		No	ClinGen ESP ExAC TOPMed
rs151264009 CA9282396	1175	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749430523 CA9282397	1176	L>V		No	ClinGen ExAC gnomAD
rs768876499 CA9282398	1178	A>V		No	ClinGen ExAC gnomAD
CA9282399 rs140495987	1179	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
COSM3722840 rs150409927 CA9282400	1179	R>H	upper_aerodigestive_tract Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs150409927 CA9282401	1179	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9282404 rs150477676	1180	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9282403 RCV000964058 rs150477676	1180	G>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA9282406 rs199771656 COSM1680780	1181	G>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA404630213 rs751016845	1187	A>D		No	ClinGen ExAC gnomAD
CA9282408 rs751016845	1187	A>V		No	ClinGen ExAC gnomAD
CA404630226 rs1349346791	1190	Q>*		No	ClinGen TOPMed
CA404630232 rs1293309654	1190	Q>H		No	ClinGen TOPMed
rs1350937619 CA404630229	1190	Q>P		No	ClinGen gnomAD
rs1436601563 CA404630252	1194	F>I		No	ClinGen TOPMed gnomAD
CA404630281 rs1280121262	1197	W>*		No	ClinGen Ensembl
rs767355009 CA9282412	1200	S>G		No	ClinGen ExAC gnomAD
CA9282414 rs755839382	1201	D>N	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA404630331 rs1568390932	1202	A>V		No	ClinGen Ensembl
rs779847692 CA9282415	1203	H>N		No	ClinGen ExAC gnomAD
CA306007689 rs999967691	1204	R>K		No	ClinGen TOPMed gnomAD
rs779146966 CA9282418	1206	R>Q	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs755182156 CA9282417	1206	R>W		No	ClinGen ExAC TOPMed gnomAD
rs141442968 CA306007700	1207	V>L		No	ClinGen ESP gnomAD
CA404630404 rs1417376869	1209	A>E		No	ClinGen gnomAD
rs1194712361 CA404630398	1209	A>P		No	ClinGen gnomAD
rs1474450017 CA404630414	1210	P>R		No	ClinGen gnomAD
CA9282421 rs773570393	1211	F>L		No	ClinGen ExAC gnomAD
CA9282422 rs377129066	1211	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9282423 rs138347233	1212	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA404630442 rs1401285992	1213	D>Y		No	ClinGen gnomAD
rs762609492 CA9282425	1214	R>C		No	ClinGen ExAC TOPMed gnomAD
rs762609492 CA404630454	1214	R>G		No	ClinGen ExAC TOPMed gnomAD
rs149137114 CA9282426	1214	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9282427 rs149137114	1214	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761277348 CA9282428	1215	T>I		No	ClinGen ExAC gnomAD
rs750347429 CA9282430	1216	G>S		No	ClinGen ExAC TOPMed gnomAD
rs779271725 CA404630504	1219	A>E		No	ClinGen ExAC TOPMed gnomAD
rs568003801 CA9282434	1219	A>P		No	ClinGen 1000Genomes ExAC gnomAD
rs568003801 CA9282433	1219	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs568003801 COSM992552 CA9282432	1219	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs779271725 CA9282435	1219	A>V		No	ClinGen ExAC TOPMed gnomAD
rs758429944 CA9282437	1220	V>A		No	ClinGen ExAC gnomAD
CA9282438 rs777871733	1222	H>Y		No	ClinGen ExAC gnomAD
CA9282439 rs747476193	1223	N>D		No	ClinGen ExAC TOPMed gnomAD
rs747476193 CA9282440	1223	N>H		No	ClinGen ExAC TOPMed gnomAD
CA306007754 rs866335058	1224	G>R		No	ClinGen Ensembl
rs768341227 CA9282442	1227	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA404630604 rs1374474405	1228	Y>*		No	ClinGen gnomAD
rs773967592 CA9282443	1228	Y>C		No	ClinGen ExAC gnomAD
CA404630598 rs1421007771	1228	Y>H		No	ClinGen gnomAD
rs1432547715 CA404630623	1230	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	1231	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs138963732 CA9282444	1232	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1340895334 COSM1711999 CA404630658	1233	G>E	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA9282446 rs771510921 CA404630676	1234	D>E		No	ClinGen ExAC TOPMed gnomAD
CA9282447 rs772708758	1236	N>H		No	ClinGen ExAC TOPMed gnomAD
rs867997538 CA306007798	1236	N>K		No	ClinGen Ensembl
CA9282448 rs536623553	1239	T>I		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	1241	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs113245603	1246	G>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1186757679 CA404630809	1246	G>S		No	ClinGen TOPMed
CA306011188 rs781315143	1247	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA404631040 rs1456604221	1250	D>G		No	ClinGen TOPMed
CA404631048 rs1458481909	1251	S>C		No	ClinGen gnomAD
CA404631056 rs1336892753	1253	D>H		No	ClinGen gnomAD
CA9282466 rs771695581	1254	T>N		No	ClinGen ExAC gnomAD
rs772654304 CA9282467	1255	S>P		No	ClinGen ExAC TOPMed gnomAD
rs772654304 COSM992556 CA306011192	1255	S>T	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA9282468 rs533773529	1256	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs770813803 CA9282469	1256	S>R		No	ClinGen ExAC gnomAD
CA9282470 rs776733321	1258	I>V		No	ClinGen ExAC gnomAD
CA9282471 rs759507440	1259	R>T		No	ClinGen ExAC gnomAD
TCGA novel	1260	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764375391 CA9282475	1262	E>G		No	ClinGen ExAC gnomAD
CA404631111 rs1392155703	1262	E>K		No	ClinGen gnomAD
rs757341864 CA9282477	1263	V>A		No	ClinGen ExAC gnomAD
rs1225591584 CA404631128	1264	A>V		No	ClinGen gnomAD
rs200763762 CA306011215	1265	E>K		No	ClinGen Ensembl
rs78570914 CA9282479	1267	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1159059 CA9282480 rs148020552	1267	R>H	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs780407394 CA9282481	1268	K>*		No	ClinGen ExAC TOPMed gnomAD
CA404631148 rs780407394	1268	K>E		No	ClinGen ExAC TOPMed gnomAD
CA404631150 rs1568396891	1268	K>T		No	ClinGen Ensembl
rs997625947 CA306011228	1269	L>V		No	ClinGen TOPMed
CA306011237 rs187843138	1271	F>Y		No	ClinGen 1000Genomes
rs749650303 CA9282482	1272	T>A		No	ClinGen ExAC gnomAD
rs758051323 CA404631174	1272	T>K		No	ClinGen ExAC TOPMed gnomAD
COSM992558 rs758051323 CA9282483	1272	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1264844726 CA404631184	1274	L>F		No	ClinGen gnomAD
rs1247814616 CA404631190	1275	V>M		No	ClinGen Ensembl
CA9282488 rs368859469	1276	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1304140 CA404631204 rs1163756950	1277	G>E	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs762781688 CA404631206	1278	V>F		No	ClinGen ExAC gnomAD
rs925009244 CA306011277	1278	V>G		No	ClinGen Ensembl
CA9282491 rs762781688	1278	V>I		No	ClinGen ExAC gnomAD
CA306011291 rs989923224	1279	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA9282493 rs774652029	1279	V>I		No	ClinGen ExAC TOPMed gnomAD
CA404631214 rs1414563977	1280	L>F		No	ClinGen TOPMed gnomAD
CA404631220 rs1020033834	1281	V>L		No	ClinGen TOPMed gnomAD
rs1020033834 CA306011294	1281	V>M		No	ClinGen TOPMed gnomAD
CA306011295 CA404631230 rs761897363	1282	F>L		No	ClinGen ExAC TOPMed gnomAD
CA404631232 rs1246246983	1283	P>A		No	ClinGen gnomAD
rs267605336 CA306011296	1283	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1455135459 CA404631240	1284	L>P		No	ClinGen TOPMed
CA9282495 rs191463357	1289	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9282498 rs142915346	1290	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9282497 rs142915346	1290	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA9282500 rs755347777	1292	C>*		No	ClinGen ExAC TOPMed gnomAD
rs1213778766 CA404631289	1292	C>R		No	ClinGen TOPMed gnomAD
CA9282501 rs554104547	1293	I>T		No	ClinGen ExAC TOPMed gnomAD
rs3745320 CA306011311	1293	I>V		No	ClinGen gnomAD
rs746678087 CA9282502	1294	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs147419023 CA9282503	1295	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs147419023 CA404631309	1295	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs147419023 CA404631308	1295	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9282506 rs370224393	1296	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9282505 rs745370637	1296	P>S		No	ClinGen ExAC gnomAD
CA9282509 rs144013868	1297	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1434409484 CA404631324	1298	A>D		No	ClinGen gnomAD
TCGA novel	1298	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148542774 CA404631329	1299	R>L		No	ClinGen ESP TOPMed gnomAD
CA306011340 rs148542774	1299	R>Q		No	ClinGen ESP TOPMed gnomAD
CA9282510 rs530434388	1299	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9282511 rs142852841	1301	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA9282514 rs760712988	1303	N>H		No	ClinGen ExAC gnomAD
rs766919970 CA9282515	1305	M>T		No	ClinGen ExAC TOPMed gnomAD
rs759894842 CA306011357	1310	C>*		No	ClinGen ExAC TOPMed gnomAD
CA9282519 rs146553378	1311	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9282518 rs376294522	1311	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1599563770 CA404631495	1312	D>A		No	ClinGen Ensembl
rs757039549 CA9282520	1313	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs757039549 CA404631505	1313	R>G		No	ClinGen ExAC TOPMed gnomAD
rs747635658 CA9282521	1313	R>H		No	ClinGen ExAC TOPMed gnomAD
CA9282522 rs747635658	1313	R>P		No	ClinGen ExAC TOPMed gnomAD
rs889262435 CA306011372	1316	I>V		No	ClinGen TOPMed
CA9282526 rs768416508	1317	A>T		No	ClinGen ExAC TOPMed gnomAD
rs778823432 CA9282527	1319	D>N		No	ClinGen ExAC TOPMed gnomAD
CA9282528 rs747931175	1320	N>S		No	ClinGen ExAC gnomAD
rs1297909953 CA404631635	1321	I>F		No	ClinGen gnomAD
rs772319757 CA9282529	1321	I>T		No	ClinGen ExAC TOPMed gnomAD
CA404631633 rs1297909953	1321	I>V		No	ClinGen gnomAD
rs141165642 CA9282531	1322	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs186775916 CA9282532	1323	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1376768403 CA404631754	1328	T>I		No	ClinGen TOPMed
rs1376768403 CA404631755	1328	T>S		No	ClinGen TOPMed
rs1233710758 CA404631773	1329	S>F		No	ClinGen gnomAD
rs146889704 CA9282538	1330	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA9282539 rs750135719	1331	D>N		No	ClinGen ExAC gnomAD
CA404631808 rs1238681770	1331	D>V		No	ClinGen gnomAD
rs1189503192 CA404631823	1332	P>L		No	ClinGen gnomAD
CA9282541 rs755756403	1334	P>L		No	ClinGen ExAC TOPMed gnomAD
CA9282540 rs755756403	1334	P>R		No	ClinGen ExAC TOPMed gnomAD
CA9282543 rs755006819	1335	V>A		No	ClinGen ExAC gnomAD
CA404631888 rs1455974080	1336	I>V		No	ClinGen gnomAD
CA9282545 rs200127031	1337	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs758211491 CA9282546	1338	G>R		No	ClinGen ExAC gnomAD
CA404631936 rs1394325921	1338	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA404631950 rs1035943481	1339	P>L		No	ClinGen TOPMed gnomAD
CA306011428 rs1035943481	1339	P>R		No	ClinGen TOPMed gnomAD
rs1369095916 CA404631983	1341	Y>C		No	ClinGen gnomAD
CA9282548 rs747246183	1342	T>A		No	ClinGen ExAC gnomAD
rs533733383 CA306011431	1342	T>N		No	ClinGen 1000Genomes
CA404631995 rs747246183	1342	T>P		No	ClinGen ExAC gnomAD
CA404632055 rs1284840701	1346	Q>R		No	ClinGen TOPMed
rs776838776 CA9282550	1348	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9282552 rs770385137	1349	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1599564185 CA404632084	1350	T>P		No	ClinGen Ensembl
CA404632100 rs1488833073	1351	L>V		No	ClinGen gnomAD
rs138264504 CA9282554	1354	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA404632188 rs1479018583	1358	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs145845607 CA9282555	1358	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA9282558 rs751633850	1359	D>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs375906944 CA9282559	1361	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs377735797 CA9282560	1361	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA404632207 rs375906944	1361	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1337902260 CA404632215	1362	V>E		No	ClinGen gnomAD
rs142675754 CA9282562	1362	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs752662123 CA9282563	1363	V>F		No	ClinGen ExAC TOPMed gnomAD
CA404632238 rs1055159122	1366	M>L		No	ClinGen gnomAD
CA306011494 rs1055159122	1366	M>V		No	ClinGen gnomAD
CA9282565 rs184839069	1368	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs190339086 CA9282567	1370	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA404632274 rs1284163608	1371	L>H		No	ClinGen gnomAD
rs746057769 CA9282570	1375	E>K		No	ClinGen ExAC gnomAD
rs746057769 CA404632299	1375	E>Q		No	ClinGen ExAC gnomAD
CA9282571 rs769799189	1376	C>R		No	ClinGen ExAC gnomAD
rs558685317 CA9282573	1376	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9282575 rs371894240	1378	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA306011523 rs778757672	1379	S>F		No	ClinGen gnomAD
rs1568397873 CA404632333	1380	K>I		No	ClinGen Ensembl
rs572212780 CA9282576	1381	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA306011532 rs966617821	1382	F>S		No	ClinGen Ensembl
CA404632350 rs1215413217	1383	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA404632371 rs1599564512	1386	T>P		No	ClinGen Ensembl
CA9282579 rs776169591	1386	T>S		No	ClinGen ExAC gnomAD
rs759188419 CA9282580	1387	H>Y		No	ClinGen ExAC gnomAD
CA404632382 rs1379726402	1388	R>W		No	ClinGen gnomAD
rs1223295573 CA404632394	1389	S>R		No	ClinGen gnomAD
CA9282581 rs199995129 COSM250141	1390	R>*	breast [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs752190172 CA9282582	1390	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9282583 rs561471557	1391	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1279843556 CA404632404	1392	A>T		No	ClinGen TOPMed gnomAD
rs763989600 CA9282584	1393	C>G		No	ClinGen ExAC TOPMed gnomAD
rs763989600 CA404632410	1393	C>S		No	ClinGen ExAC TOPMed gnomAD
CA404632413 rs1164386981	1393	C>S		No	ClinGen TOPMed
rs1212628489 CA404632422	1394	V>A		No	ClinGen gnomAD
rs1177313350 CA404632429	1395	E>D		No	ClinGen gnomAD
rs1470016635 CA404632423	1395	E>K		No	ClinGen gnomAD
CA404632435 rs1599564621	1396	V>A		No	ClinGen Ensembl
rs1378013412 CA404632441	1397	S>T		No	ClinGen gnomAD
CA404632454 rs1158900313	1399	K>E		No	ClinGen TOPMed gnomAD
CA404632453 rs1158900313	1399	K>Q		No	ClinGen TOPMed gnomAD
CA404632457 rs1400987280	1399	K>R		No	ClinGen gnomAD
rs757027729 CA9282588	1400	E>G		No	ClinGen ExAC gnomAD
rs1412556702 CA404632461	1400	E>K		No	ClinGen gnomAD
CA9282589 rs781003819	1403	V>A		No	ClinGen ExAC TOPMed gnomAD
rs781003819 CA404632485	1403	V>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1405	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148067405 CA306011549	1405	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs200282926 CA9282591	1406	G>R		No	ClinGen ExAC TOPMed gnomAD
CA404632505 rs1379261615	1407	S>P		No	ClinGen gnomAD
CA9282592 rs371321948	1409	D>N		No	ClinGen ESP ExAC gnomAD
CA404632525 rs1274509111	1410	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs749372142 CA9282593	1411	L>R		No	ClinGen ExAC gnomAD
CA9282595 rs779538269	1413	C>*		No	ClinGen ExAC gnomAD
rs1469628602 CA404632559	1415	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA9282597 rs772353153	1418	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs773558577 CA9282598	1418	Q>H		No	ClinGen ExAC gnomAD
CA9282599 rs759168956	1419	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9282600 rs147984852	1420	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9282601 rs375293723 COSM992564	1420	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA404632586 rs147984852	1420	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762430334 CA9282602	1421	K>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1422	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9282604 rs150565947	1425	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA9282603 rs150565947	1425	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA404632631 rs1304764835	1426	M>T		No	ClinGen TOPMed
rs181621417 CA9282605	1429	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs181621417 CA404632657	1429	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767489367 CA9282627	1431	S>C		No	ClinGen ExAC gnomAD
CA404632684 rs1180995439	1431	S>P		No	ClinGen TOPMed gnomAD
CA404632696 rs1423586142	1432	Y>S		No	ClinGen TOPMed
CA306013518 rs993412600	1437	Q>R		No	ClinGen gnomAD
rs1280558138 CA404632782	1438	C>F		No	ClinGen gnomAD
CA306013521 rs1055850758	1438	C>R		No	ClinGen TOPMed gnomAD
rs1055850758 CA404632775	1438	C>S		No	ClinGen TOPMed gnomAD
rs750228780 CA9282628	1442	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1260182813 CA404632938	1448	V>A		No	ClinGen TOPMed
rs766229748 CA404632952	1449	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA404632967 rs1487723806	1450	V>A		No	ClinGen gnomAD
CA306013534 rs111676200	1450	V>L		No	ClinGen ExAC TOPMed gnomAD
CA9282631 rs111676200	1450	V>M		No	ClinGen ExAC TOPMed gnomAD
rs765246509 CA9282633	1451	G>S		No	ClinGen ExAC TOPMed gnomAD
CA9282634 rs752817167	1452	L>S		No	ClinGen ExAC gnomAD
CA404633033 rs1366608799	1454	D>V		No	ClinGen gnomAD
CA9282635 rs758868707	1455	R>C		No	ClinGen ExAC TOPMed gnomAD
rs139552917 CA9282636	1455	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA306013554 rs961057035	1456	S>F		No	ClinGen TOPMed
rs747463381 CA9282637	1457	I>T		No	ClinGen ExAC gnomAD
CA404633078 rs1359967153	1457	I>V		No	ClinGen gnomAD
rs757647445 CA9282638	1460	W>C		No	ClinGen ExAC gnomAD
TCGA novel	1461	S>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA306013563 rs536086726	1462	V>M		No	ClinGen gnomAD
rs1463612466 CA404633176	1463	L>V		No	ClinGen TOPMed
CA404633838 rs547313811	1465	G>D		No	ClinGen 1000Genomes ExAC gnomAD
CA9282655 rs547313811	1465	G>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	1466	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9282656 rs757700506	1466	T>N		No	ClinGen ExAC TOPMed gnomAD
rs754630479 CA9282659	1469	T>I		No	ClinGen ExAC TOPMed gnomAD
rs140072242 CA9282663	1471	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA9282666 rs770978643	1473	V>A		No	ClinGen ExAC TOPMed gnomAD
rs770978643 CA9282665	1473	V>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1473	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1317031420 CA404633895	1474	H>N		No	ClinGen TOPMed
CA306014390 rs143637677	1474	H>P		No	ClinGen ESP TOPMed gnomAD
rs1332864732 CA404633902	1475	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1221528142 CA404633938	1480	I>T		No	ClinGen TOPMed
rs764890433 CA9282669	1481	I>M		No	ClinGen ExAC
rs1480780410 CA404633956	1483	T>P		No	ClinGen TOPMed
rs976587308 CA306014395	1484	T>I		No	ClinGen Ensembl
TCGA novel	1485	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1385915459 CA404633998	1486	G>D		No	ClinGen gnomAD
rs775811280 CA404634021	1488	I>F		No	ClinGen ExAC gnomAD
CA9282671 rs763016140	1488	I>T		No	ClinGen ExAC gnomAD
CA9282670 rs775811280	1488	I>V		No	ClinGen ExAC gnomAD
rs978345101 CA306014401	1489	A>V		No	ClinGen TOPMed gnomAD
TCGA novel	1490	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9282673 rs751621465	1490	P>S		No	ClinGen ExAC gnomAD
CA9282674 rs376518628	1492	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1488179580 CA404634092	1494	G>S		No	ClinGen TOPMed gnomAD
CA9282676 rs149016205	1498	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA9282677 rs756526921	1498	R>P		No	ClinGen ExAC TOPMed gnomAD
rs756526921 CA9282678	1498	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs368694270 CA9282679	1499	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA9282680 rs569654279	1500	N>H		No	ClinGen 1000Genomes ExAC gnomAD
CA9282681 rs777484146	1502	Q>*		No	ClinGen ExAC gnomAD
rs538667480 CA9282682	1504	L>F		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	1505	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9282683 rs771041627	1505	S>L		No	ClinGen ExAC gnomAD
rs942293237 CA306014444	1506	A>V		No	ClinGen Ensembl
TCGA novel	1508	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781299366 CA9282684	1508	A>V		No	ClinGen ExAC gnomAD
rs558683385 CA9282685	1510	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs79307399 CA9282686	1510	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs79307399 CA9282687	1510	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1515	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774459640 CA9282690	1517	F>L		No	ClinGen ExAC gnomAD
CA9282689 rs768751641	1517	F>V		No	ClinGen ExAC TOPMed gnomAD
CA9282691 rs761863491	1518	K>N		No	ClinGen ExAC gnomAD
rs767539396 CA9282692	1520	A>T		No	ClinGen ExAC TOPMed gnomAD
CA306014463 rs267605337	1522	W>*		No	ClinGen Ensembl
CA9282694 rs535181124	1531	E>*		No	ClinGen 1000Genomes ExAC gnomAD
CA9282695 rs766781920	1531	E>G		No	ClinGen ExAC gnomAD
rs201665040 CA9282696	1535	A>G		No	ClinGen ExAC TOPMed gnomAD
CA404634518 rs1413657457	1536	A>T		No	ClinGen gnomAD
CA404634523 rs1422733637	1536	A>V		No	ClinGen TOPMed gnomAD
CA404634526 rs1162022997	1537	G>R		No	ClinGen TOPMed gnomAD
CA9282697 rs758137418	1538	A>V		No	ClinGen ExAC gnomAD
CA404634537 rs1424978079	1539	P>S		No	ClinGen TOPMed gnomAD
VAR_036775 CA9282699 rs11671361	1541	D>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA404634551 rs1432574218	1541	D>Y		No	ClinGen TOPMed gnomAD
rs780780047 CA9282701	1543	E>K		No	ClinGen ExAC gnomAD
CA9282703 rs769602461	1545	E>V		No	ClinGen ExAC gnomAD
rs1312485635 CA404634590	1546	S>R		No	ClinGen TOPMed
CA404634591 rs1239762570	1547	A>T		No	ClinGen gnomAD
CA9282704 rs779962217	1549	G>E		No	ClinGen ExAC gnomAD
rs1364355707 CA404634605	1549	G>R		No	ClinGen TOPMed
rs749002654 CA9282705	1551	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA306014479 rs1018623718	1552	T>I		No	ClinGen Ensembl
TCGA novel	1553	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404634643 rs1482595865	1554	S>L		No	ClinGen gnomAD
rs768918294 CA404634644	1555	N>D		No	ClinGen ExAC gnomAD
CA9282707 rs768918294	1555	N>H		No	ClinGen ExAC gnomAD
CA404634649 rs1444692214	1555	N>K		No	ClinGen gnomAD
rs1157695665 CA404634651	1556	K>Q		No	ClinGen gnomAD
rs761986164 CA9282709	1561	C>R		No	ClinGen ExAC gnomAD
rs1395304653 CA404634704	1563	I>R		No	ClinGen TOPMed
rs1445790012 CA404634710	1564	V>A		No	ClinGen gnomAD
CA404634716 rs1326543889	1565	V>L		No	ClinGen TOPMed
rs769034213 CA306014483	1565	V>Y		No	ClinGen Ensembl

No associated diseases with Q149M9

11 regional properties for Q149M9

Type	Name	Position	InterPro Accession
repeat	WD40 repeat	857 - 985	IPR001680-1
repeat	WD40 repeat	988 - 1028	IPR001680-2
repeat	WD40 repeat	1036 - 1073	IPR001680-3
repeat	WD40 repeat	1118 - 1198	IPR001680-4
repeat	WD40 repeat	1245 - 1283	IPR001680-5
repeat	WD40 repeat	1286 - 1326	IPR001680-6
repeat	WD40 repeat	1377 - 1418	IPR001680-7
repeat	WD40 repeat	1421 - 1461	IPR001680-8
domain	NACHT nucleoside triphosphatase	337 - 505	IPR007111
conserved_site	WD40 repeat, conserved site	883 - 897	IPR019775-1
conserved_site	WD40 repeat, conserved site	1403 - 1417	IPR019775-2

Functions

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

2 GO annotations of cellular component

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

1 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.

2 GO annotations of biological process

Name	Definition
negative regulation of NF-kappaB transcription factor activity	Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of the transcription factor NF-kappaB.
positive regulation of gene expression	Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A6H603	Nwd1	NACHT domain- and WD repeat-containing protein 1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MQRGKPCRAL	PTLKCQTFCQ	RHGLMFEVVD	LRWGIRNIEA	TDHLTTELCL	EEVDRCWKTS
70	80	90	100	110	120
IGPAFVALIG	DQYGPCLIPS	RIDEKEWEVL	RDHLTARPSD	LELVARYFQR	DENAFPPTYV
130	140	150	160	170	180
LQAPGTGEAC	EPEEATLTSV	LRSGAQEARR	LGLITQEQWQ	HYHRSVIEWE	IERSLLSSED
190	200	210	220	230	240
REQGATVFLR	EIQDLHKHIL	EDCALRMVDR	LADGCLDADA	QNLLSSLKSH	ITDMHPGVLK
250	260	270	280	290	300
THRLPWSRDL	VNPKNKTHAC	YLKELGEQFV	VRANHQVLTR	LRELDTAGQE	LAWLYQEIRH
310	320	330	340	350	360
HLWQSSEVIQ	TFCGRQELLA	RLGQQLRHDD	SKQHTPLVLF	GPPGIGKTAL	MCKLAEQMPR
370	380	390	400	410	420
LLGHKTVTVL	RLLGTSQMSS	DARGLLKSIC	FQVCLAYGLP	LPPAQVLDAH	TRVVQFFHTL
430	440	450	460	470	480
LHTVSCRNFE	SLVLLLDAMD	DLDSVRHARR	VPWLPLNCPP	RVHLILSACS	GALGVLDTLQ
490	500	510	520	530	540
RVLLDPEAYW	EVKPLSGNQG	QQMIQLLLAA	ARRTLSPVHT	DLLWASLPEC	GNPGRLRLAF
550	560	570	580	590	600
EEARKWASFT	VPVPLATTAE	EATHQLCTRL	EQTHGQLLVA	HVLGYIVSSR	HGLSEAELKD
610	620	630	640	650	660
VLSLDDEVLQ	DVYRDWTPPS	KELLRFPPLL	WVRLRRDLGY	YLARRPVDGF	TLLAIAHRQL
670	680	690	700	710	720
VEVVRERYLS	GSERAKRHGV	LADFFSGTWS	QGTKKLITLP	LVGKPLNLDR	KVAPQPLWFS
730	740	750	760	770	780
HTVANLRKLK	ELPYHLLHSG	RLEELKQEVL	GSMSWISCRG	ISGGIEDLLD	DFDLCAPHLD
790	800	810	820	830	840
SPEVGLVREA	LQLCRPAVEL	RGMERSLLYT	ELLARLHFFA	TSHPALVGQL	CQQAQSWFQL
850	860	870	880	890	900
CAHPVLVPLG	GFLQPPGGPL	RATLSGCHKG	ITAMAWGVEE	KLLVIGTQDG	IMAVWDMEEQ
910	920	930	940	950	960
HVIHMLTGHT	GEVRCVKIFA	KGTLANSASK	DYTLHLWNLL	SGQEKFTIWD	GGSKNPAEPQ
970	980	990	1000	1010	1020
IWNLHVDEAH	KVVYSASGSK	INAWNLETAE	PVFHILGDAS	DPWMCMAVLA	SQATLLTVSR
1030	1040	1050	1060	1070	1080
DGVVSLWSSA	TGKLQGKQHM	SSIKEETPTC	AVSVQKQGKL	VTGFSNGSIS	LVSSKGDRLL
1090	1100	1110	1120	1130	1140
EKLPDAVRFL	VVSEDESLLA	AGFGRSVRIF	LADSRGFRRF	MAMDLEHEDM	VETAVFGTEN
1150	1160	1170	1180	1190	1200
NLIITGSLDA	LIQVWSLSEQ	GTLLDILEGV	GAPVSLLARG	GALVASASPQ	SSSFKVWDLS
1210	1220	1230	1240	1250	1260
DAHRSRVPAP	FLDRTGLTAV	SHNGSYVYFP	KIGDKNKVTI	WDLAEGEEQD	SLDTSSEIRC
1270	1280	1290	1300	1310	1320
LEVAEQRKLL	FTGLVSGVVL	VFPLNSRQDV	ICIPPPEARK	AINCMSLSKC	EDRLAIAYDN
1330	1340	1350	1360	1370	1380
IVLVLDITSG	DPCPVIDGPR	YTFYTQLPET	LSSVAILTDY	RVVYSMTNGD	LFLYECATSK
1390	1400	1410	1420	1430	1440
AFPLETHRSR	VACVEVSHKE	QLVVSGSEDA	LLCLWDLQAR	KWKFEMSYTS	SYCRGVQCAC
1450	1460	1470	1480	1490	1500
FSKDDKYVYV	GLKDRSILVW	SVLDGTLLTV	QFVHAVVNRI	IPTTSGFIAP	TRHGYLIREN
1510	1520	1530	1540	1550	1560
FQCLSAKASP	QDPLKNFKKA	MWMVKSRQRE	ELVAAAGAPQ	DLESESAQGN	ETKSNKCSQV

CLIV