AiPD: Autoinhibited Protein Database

Q9C000

Gene name	NLRP1
Protein name	NACHT, LRR and PYD domains-containing protein 1
Names	Caspase recruitment domain-containing protein 7, Death effector filament-forming ced-4-like apoptosis protein, Nucleotide-binding domain and caspase recruitment domain
Species	Homo sapiens (Human)
KEGG Pathway	hsa:22861
EC number
Protein Class	NACHT, LRR AND PYD DOMAINS-CONTAINING PROTEIN 1 (PTHR46985)

Descriptions

NLRPs are a family of cytosolic sensors involved in the initiation of the host innate immune response. Upon activation, NLRPs form a multiprotein immune effector complex known as the inflammasome. Assembly of the inflammasome leads to caspase-1 activation, the secretion of proinflammatory cytokines such as interleukin-1b (IL-1b) and IL-18, and gasdermin D-dependent pyroptotic cell death. During infection by HRV, a HRV component known as 3C protease (HRC-3Cpro) cleaves NLRP1 specifically between Q130 and G131. The fragment (131-1212) containing an autoinhibitory region is degraded by the N-terminal glycine degron pathway and liberates NLRP1 C-terminal fragment (1213-1474) capable of activating caspase-1. Since the leucine-rich repeat (LRR) mediates autoinhibition in mouse NLRP1b, the LRR in human NLRP1 may be also involved in autoinhibition.

Autoinhibitory domains (AIDs)

Target domain	1213-1473 (C-terminal fragment)
Relief mechanism	Cleavage
Assay

AID

809-973 (Leucine-rich repeat)

Target domain

1213-1473 (C-terminal fragment)

Relief mechanism

Cleavage (Cleavage between Q130 and G131 by HRC-3Cpro and cleavage by the N-terminal glycine degron pathway)

Assay

Accessory elements

No accessory elements

References

Robinson KS et al. (2020) "Enteroviral 3C protease activates the human NLRP1 inflammasome in airway epithelia", Science (New York, N.Y.), 370,

Autoinhibited structure

Activated structure

10 structures for Q9C000

Entry ID	Method	Resolution	Chain	Position	Source
1PN5	NMR	-	A	1-93	PDB
3KAT	X-ray	310 A	A	1371-1467	PDB
4IFP	X-ray	199 A	A/B/C	1379-1462	PDB
4IM6	X-ray	165 A	A	791-990	PDB
5Y3S	X-ray	245 A	A/B/C/D	790-990	PDB
6K7V	EM	370 A	A/B/C/D/E/F/G/H/I/J/K/L	1379-1466	PDB
6X6C	EM	290 A	E/F	1-1473	PDB
6XKK	EM	360 A	A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R/S/T/U/V/a/b/c/d/e/f/g/h	1379-1473	PDB
7WGE	EM	340 A	A	95-994	PDB
AF-Q9C000-F1	Predicted				AlphaFoldDB

1173 variants for Q9C000

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1057519492 CA16044249 RCV000416558	54	A>T	Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000416502 RCV000479210 CA16044250 rs1057519493	66	A>V	Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA018443 RCV000043505 rs397514692	77	M>T	Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs12150220 RCV000004380 CA018555	155	L>H	Vitiligo-associated multiple autoimmune disease susceptibility 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1597460588 RCV000996468 RCV001198015	264	C>missing	Autoinflammation with arthritis and dyskeratosis [ClinVar]	Yes	ClinVar dbSNP
rs758319723 COSM1679432 COSM1679433 COSM1679431 RCV000490416 CA8327463	308	R>*	haematopoietic_and_lymphoid_tissue Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
RCV001333384 RCV001871848 rs1914443247	527	C>Y	Autoinflammation with arthritis and dyskeratosis [ClinVar]	Yes	ClinVar dbSNP
RCV001197219 CA397382939 rs1347045059	724	E>K	Autoinflammation with arthritis and dyskeratosis [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001865408 rs776245016 CA8327238 RCV000445355	726	R>W	Autoinflammation with arthritis and dyskeratosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001027400 CA397382576 rs1597458411	755	T>N	Respiratory papillomatosis, juvenile recurrent, congenital [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
COSM1179294 CA018471 rs193920788 RCV001850023 COSM1179292 COSM1179293 RCV000149322	940	R>*	Malignant tumor of prostate large_intestine prostate [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD
rs1057524876 CA16609235 RCV000445359	1214	P>R	Autoinflammation with arthritis and dyskeratosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA397387242 rs1597390369 RCV000989683	1394	T>K	Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_083844	755	T>N	JRRP; gain-of-function variant resulting in spontaneous inflammasome activation; increased NLRP1-inflammasome complex assembly [UniProt]	Yes	UniProt
VAR_078801	787	F>-	MSPC; increased NLRP1-inflammasome complex assembly [UniProt]	Yes	UniProt
rs201312429 CA8327663	4	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1357536300 CA397391382	5	A>S		No	ClinGen gnomAD
rs1382774965 CA397391370	6	W>C		No	ClinGen gnomAD
rs1451113448 CA397391377	6	W>R		No	ClinGen gnomAD
CA397391378 rs1451113448	6	W>R		No	ClinGen gnomAD
rs771011373 CA287293763	8	R>C		No	ClinGen gnomAD
COSM3742335 CA8327662 COSM3742334 COSM3742333 rs200371400	8	R>H	liver [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs771011373 CA397391363	8	R>S		No	ClinGen gnomAD
CA397391356 rs1597494293	9	L>P		No	ClinGen Ensembl
CA397391344 rs1317931422	11	C>S		No	ClinGen gnomAD
rs1414256114 CA397391325	14	E>K		No	ClinGen gnomAD
CA397391295 rs1165171576	18	K>E		No	ClinGen gnomAD
CA8327660 rs754678021	19	E>K		No	ClinGen ExAC gnomAD
CA397391270 rs1189115179	21	L>P		No	ClinGen gnomAD
rs868216905 CA287293731	23	E>K		No	ClinGen Ensembl
CA287293723 rs980793433	28	L>F		No	ClinGen gnomAD
CA397391220 rs971095282	29	A>S		No	ClinGen TOPMed gnomAD
CA287293717 rs971095282	29	A>T		No	ClinGen TOPMed gnomAD
rs1451762722 CA397391217	29	A>V		No	ClinGen gnomAD
CA8327658 rs565040043	30	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1388671158 CA397391213	30	N>S		No	ClinGen gnomAD
CA397391206 rs1246421974	31	K>T		No	ClinGen TOPMed
CA8327657 rs201338083	32	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs757234714 CA8327654	33	H>Q		No	ClinGen ExAC gnomAD
CA8327653 rs201788309	35	R>G		No	ClinGen 1000Genomes ExAC gnomAD
rs200961349 CA287293676	36	S>G		No	ClinGen Ensembl
CA397391175 rs1359989730	36	S>N		No	ClinGen gnomAD
CA287293673 rs200166812	36	S>R		No	ClinGen Ensembl
CA397391162 rs1269596817	38	S>W		No	ClinGen gnomAD
rs774564239 CA8327650	39	G>S		No	ClinGen ExAC TOPMed gnomAD
CA8327649 rs766538219	40	E>K		No	ClinGen ExAC gnomAD
rs200920244 CA287293621	41	T>A		No	ClinGen gnomAD
rs200014469 CA287293613	42	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1430167977 CA397391140	42	P>L		No	ClinGen TOPMed gnomAD
rs200014469 CA8327648	42	P>S		No	ClinGen ExAC TOPMed gnomAD
CA8327647 rs200014469	42	P>T		No	ClinGen ExAC TOPMed gnomAD
CA8327645 rs145709003	43	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA287293579 rs971122274	45	P>S		No	ClinGen TOPMed
rs368786124 CA8327643	48	T>M		No	ClinGen ExAC gnomAD
rs199880477 CA287293523	49	S>G		No	ClinGen TOPMed
rs1006424370 CA287293518	51	M>I		No	ClinGen TOPMed
rs1275742245 CA397391079	52	E>K		No	ClinGen gnomAD
CA397391078 rs1275742245	52	E>Q		No	ClinGen gnomAD
rs1555550348 RCV000627473	53	V>missing		No	ClinVar dbSNP
rs1597494035 CA397391065	53	V>G		No	ClinGen Ensembl
rs953605073 CA397391070	53	V>L		No	ClinGen TOPMed
CA287293514 rs953605073	53	V>M		No	ClinGen TOPMed
rs201750573 CA8327641	55	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1295474859 CA397391024	57	L>M		No	ClinGen gnomAD
CA287293486 rs769494128	58	V>M		No	ClinGen TOPMed
CA287293450 rs564787076	63	E>K		No	ClinGen 1000Genomes gnomAD
rs564787076 CA397390948	63	E>Q		No	ClinGen 1000Genomes gnomAD
rs541027765 CA8327638	64	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
rs200739115 CA287293426	65	R>Q		No	ClinGen TOPMed gnomAD
rs1369797155 CA397390920	65	R>W		No	ClinGen gnomAD
CA397390913 rs1397680252	66	A>S		No	ClinGen TOPMed
rs1404528106 CA397390898	67	W>*		No	ClinGen gnomAD
CA397390840 rs1463320467	72	H>D		No	ClinGen gnomAD
rs997782187 CA287293423	74	W>R		No	ClinGen Ensembl
CA397390794 rs1352759412	75	E>*		No	ClinGen gnomAD
rs1169617829 CA397390774	76	Q>R		No	ClinGen gnomAD
CA8327637 rs757173231	82	L>Q		No	ClinGen ExAC gnomAD
CA397390691 rs1196873238	83	C>Y		No	ClinGen gnomAD
CA8327635 rs202167110	84	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200633502 CA287293387	85	Q>*		No	ClinGen Ensembl
rs1041395934 CA287293381	85	Q>H		No	ClinGen Ensembl
CA8327634 COSM561653 COSM1141210 rs755043231 COSM1141211	86	A>T	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs562032379 CA8327633	88	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1325799078 CA397390624	89	G>R		No	ClinGen gnomAD
rs766597944 CA8327632	89	G>V		No	ClinGen ExAC gnomAD
rs1330146972 CA397390609	90	A>V		No	ClinGen gnomAD
CA8327615 rs777635766	94	P>S		No	ClinGen ExAC gnomAD
rs1380432561 CA397390301	95	S>T		No	ClinGen TOPMed
CA397390289 rs1290300693	96	F>L		No	ClinGen gnomAD
CA8327614 rs200363173	97	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200363173 CA8327613	97	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8327612 rs780060988	98	Y>C		No	ClinGen ExAC gnomAD
rs750620188 CA8327610	99	S>R		No	ClinGen ExAC gnomAD
CA8327609 rs765564675	99	S>R		No	ClinGen ExAC gnomAD
rs1247446949 CA397390245	103	P>R		No	ClinGen TOPMed
CA287292529 rs202194750	103	P>S		No	ClinGen Ensembl
rs1597492429 CA397390241	104	H>P		No	ClinGen Ensembl
rs762231366 CA8327608	104	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs775062733 CA8327604	106	G>A		No	ClinGen ExAC TOPMed gnomAD
rs72827640 RCV000949999 CA8327606	106	G>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs775062733 CA8327605	106	G>V		No	ClinGen ExAC TOPMed gnomAD
rs200126507 CA8327603	107	S>F		No	ClinGen ExAC TOPMed gnomAD
CA397390227 rs1567675373	107	S>P		No	ClinGen Ensembl
rs141118572 CA8327602	108	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs979764619 CA397390210	110	Q>*		No	ClinGen gnomAD
rs979764619 CA287292470	110	Q>E		No	ClinGen gnomAD
rs201858694 CA287292454	113	S>F		No	ClinGen Ensembl
CA8327598 rs200012608	115	A>S		No	ClinGen ESP ExAC TOPMed
COSM1736959 COSM1736961 rs200012608 COSM1736960 CA8327597	115	A>T	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed
rs748096457 CA397390163	118	M>K		No	ClinGen ExAC gnomAD
CA8327596 rs748096457	118	M>T		No	ClinGen ExAC gnomAD
CA287292408 rs1014425352	118	M>V		No	ClinGen Ensembl
rs1426999385 CA397390145	120	W>C		No	ClinGen gnomAD
CA287292376 rs867864593 COSM1709673 COSM1709672 COSM1709674	123	E>K	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA8327595 rs200978321	124	L>F		No	ClinGen ExAC TOPMed gnomAD
rs375872650 CA8327594	125	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
COSM981627 rs779228750 CA8327592 COSM1384857 COSM1384856	126	A>V	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1597492238 CA397390097	128	C>G		No	ClinGen Ensembl
rs150929926 CA8327590	130	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764434953 CA8327588	133	E>Q		No	ClinGen ExAC gnomAD
CA397390056 rs1221678333	134	R>T		No	ClinGen gnomAD
CA397390041 rs1597492218	136	V>G		No	ClinGen Ensembl
CA8327587 rs142484301	136	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753076278 CA8327585	139	Q>L		No	ClinGen ExAC gnomAD
rs113651705 CA8327584	140	L>M		No	ClinGen ExAC TOPMed gnomAD
rs113651705 CA287292307	140	L>V		No	ClinGen ExAC TOPMed gnomAD
CA287292304 rs888389061	142	D>H		No	ClinGen Ensembl
rs1283551358 CA397390003	143	T>P		No	ClinGen gnomAD
rs199706211 CA8327582	144	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1597492185 CA397389992	145	G>R		No	ClinGen Ensembl
COSM981626 CA8327581 COSM1589012 rs139463149 COSM1589013	146	R>C	endometrium bone [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs202196998 CA287292273	146	R>H		No	ClinGen Ensembl
CA8327580 rs139463149	146	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8327579 rs147371989	147	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs200634854 CA8327578	147	R>H		No	ClinGen ExAC TOPMed gnomAD
rs200634854 CA397389980	147	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8327577 rs144338088	149	R>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1365282831 CA397389935	152	S>F		No	ClinGen gnomAD
rs200469965 CA287291696	152	S>P		No	ClinGen Ensembl
rs1363959983 CA397389903	158	Q>K		No	ClinGen TOPMed
CA8327563 rs764977115	159	A>P		No	ClinGen ExAC gnomAD
CA8327562 rs761470266	159	A>V		No	ClinGen ExAC gnomAD
CA397389885 rs1470749082	161	P>S		No	ClinGen TOPMed
rs1459563515 CA397389876	162	S>N		No	ClinGen gnomAD
rs200972481 CA8327561	167	E>D		No	ClinGen ExAC gnomAD
rs1262169938 CA397389843	167	E>K		No	ClinGen gnomAD
rs1353298186 CA397389821	170	S>N		No	ClinGen TOPMed gnomAD
CA397389820 rs1353298186	170	S>T		No	ClinGen TOPMed gnomAD
CA287291616 rs144081440	175	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768684442 CA8327560	175	N>S		No	ClinGen ExAC gnomAD
CA8327558 rs200333162	176	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8327557 rs771066401	176	A>V		No	ClinGen ExAC TOPMed gnomAD
CA397389767 rs1405381450	178	T>I		No	ClinGen gnomAD
CA8327556 rs749416063	179	S>F		No	ClinGen ExAC gnomAD
CA8327555 rs374598238	180	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756406438 CA8327554	180	T>I		No	ClinGen ExAC gnomAD
CA287291582 rs199715204	184	G>E		No	ClinGen TOPMed gnomAD
CA287291578 rs896086642	185	S>N		No	ClinGen TOPMed gnomAD
rs748426500 CA8327553	185	S>R		No	ClinGen ExAC gnomAD
rs866381776 CA287291540	186	W>*		No	ClinGen Ensembl
CA8327552 rs370863238	186	W>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs201496500 CA287291536	187	G>E		No	ClinGen gnomAD
rs201496500 CA397389716	187	G>V		No	ClinGen gnomAD
CA397389704 rs1442259587	189	P>L		No	ClinGen TOPMed gnomAD
CA287291534 rs762889502	190	P>R		No	ClinGen Ensembl
rs755462721 CA8327551	193	S>N		No	ClinGen ExAC TOPMed gnomAD
rs200226723 CA287291514	197	R>K		No	ClinGen Ensembl
rs1250876717 CA397389644	199	Q>*		No	ClinGen TOPMed
rs1360591769 CA397389633	200	E>D		No	ClinGen gnomAD
CA8327548 rs757866341	200	E>K		No	ClinGen ExAC gnomAD
CA8327547 rs749975060	201	A>V		No	ClinGen ExAC gnomAD
rs202055517 CA397389625	202	P>A		No	ClinGen gnomAD
CA397389622 rs1439160376	202	P>L		No	ClinGen TOPMed
rs202055517 COSM1723620 CA287291498 COSM1723621 COSM1723619	202	P>S	NS [Cosmic]	No	ClinGen cosmic curated gnomAD
CA397389621 rs1382131822	203	G>R		No	ClinGen gnomAD
CA397389589 rs1250088617	207	P>R		No	ClinGen TOPMed
rs753571228 CA287291476	208	L>M		No	ClinGen ExAC TOPMed gnomAD
CA397389584 rs1317862135	208	L>P		No	ClinGen gnomAD
rs983843078 CA287291456	209	D>G		No	ClinGen Ensembl
CA397389582 rs1567674567	209	D>N		No	ClinGen Ensembl
rs149535960 CA8327542	211	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs149535960 CA8327541	211	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1567674530 CA397389562	212	S>P		No	ClinGen Ensembl
CA8327537 rs769899247	215	Y>D		No	ClinGen ExAC TOPMed gnomAD
CA397389544 rs769899247	215	Y>N		No	ClinGen ExAC TOPMed gnomAD
rs748458090 CA8327536	217	T>I		No	ClinGen ExAC gnomAD
CA397388318 rs1261578117	218	E>G		No	ClinGen TOPMed
rs757650018 CA8327515	222	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8327514 rs780440267	223	E>Q		No	ClinGen ExAC gnomAD
rs1270575989 CA397388276	224	R>T		No	ClinGen gnomAD
rs1209928979 CA397388271	225	E>Q		No	ClinGen gnomAD
CA8327511 rs772454679	228	E>D		No	ClinGen ExAC gnomAD
CA397388240 rs1488341622	229	K>T		No	ClinGen gnomAD
CA8327510 rs746445016	230	G>D		No	ClinGen ExAC gnomAD
CA397388235 rs1597460808	230	G>S		No	ClinGen Ensembl
CA397388219 rs1280920953	232	P>R		No	ClinGen TOPMed gnomAD
rs868274423 COSM561654 CA287269224 COSM1141208 COSM1141209	234	W>*	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs756721639 CA8327507	234	W>C		No	ClinGen ExAC gnomAD
rs1257425750 CA397388209	234	W>G		No	ClinGen gnomAD
CA397388202 rs1326006320	235	A>E		No	ClinGen gnomAD
rs200696391 CA287269210	235	A>S		No	ClinGen TOPMed
rs200696391 CA287269215	235	A>T		No	ClinGen TOPMed
rs777543444 CA8327505	236	A>S		No	ClinGen ExAC
CA8327504 rs755871217	236	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1597460735 CA397388185	238	V>G		No	ClinGen Ensembl
CA397388178 rs1444214471	240	T>A		No	ClinGen gnomAD
rs754740745 CA8327501	240	T>M		No	ClinGen ExAC gnomAD
rs761907181 CA8327498	242	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1173780449 CA397388164	242	P>Q		No	ClinGen TOPMed gnomAD
rs1409120323 CA397388154	244	A>T		No	ClinGen gnomAD
rs199648641 CA287269168	244	A>V		No	ClinGen TOPMed gnomAD
CA397388146 rs1238103295	245	H>P		No	ClinGen gnomAD
CA8327495 rs61754792	246	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA287269159 rs61754792	246	T>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8327494 rs11651595	246	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8327493 rs772425139	247	S>G		No	ClinGen ExAC TOPMed gnomAD
rs958976063 CA287269138	248	L>Q		No	ClinGen Ensembl
rs1232758223 CA397388125	249	Q>*		No	ClinGen TOPMed gnomAD
rs1307373915 CA397388116	250	P>H		No	ClinGen gnomAD
CA397388117 rs1311395994	250	P>T		No	ClinGen gnomAD
rs1238949349 CA397388093	253	H>L		No	ClinGen TOPMed
rs746225128 CA8327492	253	H>Y		No	ClinGen ExAC gnomAD
rs748774718 CA8327489	254	P>L		No	ClinGen ExAC gnomAD
rs374662800 CA8327490	254	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8327488 COSM981622 COSM1589014 COSM1589015 rs777492180	255	W>R	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA8327487 rs755811313	256	E>K		No	ClinGen ExAC TOPMed gnomAD
rs142728498 CA8327485	258	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8327484 rs754760235	261	E>D		No	ClinGen ExAC gnomAD
CA287269100 rs767562109	261	E>K		No	ClinGen Ensembl
RCV001172110 rs1914533218	264	C>R		No	ClinVar dbSNP
CA397388024 rs1190644649	264	C>S		No	ClinGen Ensembl
rs1241282733 CA397388014	265	S>F		No	ClinGen gnomAD
CA397388018 rs1446553860	265	S>P		No	ClinGen gnomAD
CA397387993 rs1200108016	268	P>L		No	ClinGen gnomAD
CA8327481 rs148499417	274	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA287269081 rs1046817157	275	N>S		No	ClinGen TOPMed gnomAD
rs369457449 CA287269063	278	F>L		No	ClinGen ExAC gnomAD
CA397387890 rs1378916976	279	T>A		No	ClinGen TOPMed
rs1308468630 CA397387856	282	L>Q		No	ClinGen gnomAD
CA8327478 rs112113585	283	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA397387833 rs1309885048	285	Q>*		No	ClinGen gnomAD
rs1394944058 CA397387830	285	Q>R		No	ClinGen gnomAD
CA397387808 rs1331142466	287	P>R		No	ClinGen TOPMed
rs17854712 CA8327476	287	P>S		No	ClinGen ExAC gnomAD
rs17854712 CA287269042	287	P>T		No	ClinGen ExAC gnomAD
CA397387800 rs942499255	288	H>P		No	ClinGen Ensembl
rs532511732 CA8327474	288	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA287269028 rs942499255	288	H>R		No	ClinGen Ensembl
rs201548869 CA8327473	290	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8327472 rs771464318	290	R>K		No	ClinGen ExAC TOPMed gnomAD
CA397387779 rs771464318	290	R>T		No	ClinGen ExAC TOPMed gnomAD
CA8327471 rs200219121	291	S>N		No	ClinGen ExAC TOPMed gnomAD
CA397387764 rs1383914987	291	S>R		No	ClinGen gnomAD
CA8327470 rs773866014	294	P>L		No	ClinGen ExAC gnomAD
CA8327468 rs747688853	298	R>S		No	ClinGen ExAC gnomAD
rs1284957637 CA397387688	299	S>R		No	ClinGen gnomAD
rs1487201547 CA397387695	299	S>R		No	ClinGen gnomAD
rs1284957637 CA397387689	299	S>R		No	ClinGen gnomAD
rs199601420 CA8327466	300	W>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199601420 CA8327465	300	W>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780850679 CA8327467	300	W>R		No	ClinGen ExAC gnomAD
rs1263580003 CA397387681	301	P>T		No	ClinGen gnomAD
rs779784861 CA8327464	303	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1307519474 CA397387660	304	V>M		No	ClinGen TOPMed gnomAD
rs140628502 CA8327462	308	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1171363573 CA397387611	309	G>*		No	ClinGen TOPMed
CA397387551 rs1407143238	314	I>M		No	ClinGen gnomAD
rs778828361 CA8327461	314	I>S		No	ClinGen ExAC TOPMed gnomAD
rs778828361 CA397387554	314	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1387938907 CA397387515	317	L>F		No	ClinGen TOPMed
rs374999246 CA8327458	318	F>L		No	ClinGen ExAC TOPMed gnomAD
rs374999246 CA397387509	318	F>V		No	ClinGen ExAC TOPMed gnomAD
CA8327456 rs767746997	324	T>I		No	ClinGen ExAC gnomAD
rs1477583359 CA397387414	326	E>G		No	ClinGen gnomAD
rs200160045 CA8327454	328	R>C		No	ClinGen ExAC TOPMed gnomAD
rs202119862 CA8327453	328	R>H		No	ClinGen ExAC TOPMed gnomAD
CA287268887 rs202119862	328	R>L		No	ClinGen ExAC TOPMed gnomAD
CA397387384 rs1490773833	329	I>M		No	ClinGen gnomAD
rs929131717 CA287268881	329	I>T		No	ClinGen TOPMed
CA397387365 rs1265214361	331	I>T		No	ClinGen gnomAD
rs549362482 CA8327452	332	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766600990 CA287268859	333	Q>R		No	ClinGen Ensembl
rs761387178 CA8327449	334	G>E		No	ClinGen ExAC gnomAD
CA8327448 rs776048890	335	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1250910758 CA397387323	335	A>V		No	ClinGen TOPMed
rs768354442 CA8327447	342	T>A		No	ClinGen ExAC gnomAD
rs1597460301 CA397387253	342	T>I		No	ClinGen Ensembl
CA397387246 rs1225786061	343	L>Q		No	ClinGen gnomAD
CA8327445 rs201743343	347	V>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs771788517 CA8327444	348	K>E		No	ClinGen ExAC TOPMed gnomAD
CA8327442 rs148348032	348	K>N		No	ClinGen ESP ExAC TOPMed
rs745695683 CA8327443	348	K>R		No	ClinGen ExAC gnomAD
CA397387167 rs1169492155	350	A>T		No	ClinGen TOPMed
CA8327441 rs199927877	351	W>C		No	ClinGen ExAC TOPMed gnomAD
rs1034576250 CA287268810	351	W>L		No	ClinGen Ensembl
rs781185876 CA8327439	352	G>E		No	ClinGen ExAC TOPMed gnomAD
rs752816859 CA8327440	352	G>R		No	ClinGen ExAC TOPMed gnomAD
CA397387139 rs752816859	352	G>W		No	ClinGen ExAC TOPMed gnomAD
rs115872694 CA8327438	354	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8327436 rs766735694	359	D>N		No	ClinGen ExAC gnomAD
CA8327435 rs763358431	359	D>V		No	ClinGen ExAC gnomAD
CA8327434 rs750869483	360	R>C		No	ClinGen ExAC gnomAD
CA8327433 rs765811215	360	R>H		No	ClinGen ExAC TOPMed gnomAD
CA397387047 rs765811215	360	R>P		No	ClinGen ExAC TOPMed gnomAD
rs371699654 CA287268774	362	Q>H		No	ClinGen ESP TOPMed gnomAD
rs149191782 CA397387012	363	H>L		No	ClinGen ESP gnomAD
rs149191782 CA287268755	363	H>P		No	ClinGen ESP gnomAD
rs149191782 CA287268753	363	H>R		No	ClinGen ESP gnomAD
CA8327432 rs762298014	363	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1322753173 CA397386958	367	F>L		No	ClinGen TOPMed
CA8327431 rs145383615	368	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8327430 rs767993237	369	C>F		No	ClinGen ExAC gnomAD
rs1318141124 CA397386943	369	C>R		No	ClinGen gnomAD
CA397386929 rs1446162413	370	R>K		No	ClinGen TOPMed gnomAD
CA397386893 rs1412930118	373	A>S		No	ClinGen gnomAD
CA397386886 rs1006748102	374	Q>*		No	ClinGen gnomAD
CA287268727 rs1006748102	374	Q>E		No	ClinGen gnomAD
CA287268721 rs199907919	374	Q>H		No	ClinGen gnomAD
CA397386883 rs1171858462	374	Q>R		No	ClinGen gnomAD
rs1382147181 CA397386863	376	K>E		No	ClinGen gnomAD
rs1217453959 CA397386846	377	V>A		No	ClinGen TOPMed
rs1597460146 CA397386852	377	V>M		No	ClinGen Ensembl
rs551349608 CA8327424	381	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs551349608 COSM1736695 COSM1736697 CA8327423 COSM1736696	381	A>T	central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1277470601 CA397386789	382	E>G		No	ClinGen gnomAD
CA397386771 rs1206131048	384	I>V		No	ClinGen gnomAD
rs147120596 CA8327421	385	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs902420046 CA287268672	386	K>N		No	ClinGen Ensembl
rs1161237983 CA397386745	386	K>R		No	ClinGen TOPMed
CA397386730 rs199681358	387	D>E		No	ClinGen TOPMed gnomAD
rs375268676 CA8327420	387	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs375268676 CA287268659	387	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1030907263 CA287268664	387	D>Y		No	ClinGen TOPMed gnomAD
CA8327419 rs200474943	388	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765758207 CA8327416	389	T>P		No	ClinGen ExAC gnomAD
CA8327415 rs757659033	389	T>R		No	ClinGen ExAC gnomAD
rs1362172236 CA397386708	390	A>T		No	ClinGen gnomAD
CA287268633 rs764006486	391	T>S		No	ClinGen Ensembl
CA8327413 rs764693405	391	T>S		No	ClinGen ExAC gnomAD
rs1385770451 CA397386685	392	P>A		No	ClinGen TOPMed gnomAD
CA8327411 rs200691997	392	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8327410 rs200691997	392	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1385770451 CA397386683	392	P>S		No	ClinGen TOPMed gnomAD
CA8327408 rs374275318	393	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA8327407 rs141104382	397	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA397386625 rs1463918557	397	Q>H		No	ClinGen Ensembl
CA397386627 rs200397188	397	Q>L		No	ClinGen gnomAD
rs200397188 CA287268611	397	Q>P		No	ClinGen gnomAD
CA8327406 rs749135685	398	I>F		No	ClinGen ExAC gnomAD
CA287268599 rs887880084	401	R>K		No	ClinGen TOPMed
rs3744718 CA8327402	404	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747030614 CA8327403	404	R>W		No	ClinGen ExAC TOPMed gnomAD
CA8327399 rs779285980	406	L>P		No	ClinGen ExAC gnomAD
rs746030331 CA8327400	406	L>V		No	ClinGen ExAC gnomAD
rs1319898474 CA397386497	408	I>T		No	ClinGen gnomAD
CA287268566 rs889627229	410	D>G		No	ClinGen Ensembl
rs199904472 CA287268568 RCV000996466	410	D>N		No	ClinGen ClinVar dbSNP gnomAD
rs1399651856 CA397386458	412	V>A		No	ClinGen TOPMed
rs202050733 CA8327397	412	V>I		No	ClinGen ExAC TOPMed gnomAD
CA287268550 rs937967520	414	E>K		No	ClinGen TOPMed
rs1467841794 CA397386422	415	P>R		No	ClinGen TOPMed
rs764488446 CA8327396	418	V>I		No	ClinGen ExAC TOPMed gnomAD
CA397386375 rs1447765148	419	L>F		No	ClinGen TOPMed
rs1597459898 CA397386370	420	Q>R		No	ClinGen Ensembl
rs144297582 CA287268535	422	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8327395 rs144297582	422	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs201861834 CA8327392	423	S>I		No	ClinGen ExAC TOPMed gnomAD
rs1362009716 CA397386281	427	C>W		No	ClinGen gnomAD
rs1273727617 CA397386276	428	L>P		No	ClinGen gnomAD
rs1451112324 CA397386277	428	L>V		No	ClinGen gnomAD
CA397386259 rs1555547444	429	H>Q		No	ClinGen Ensembl
CA397386265 rs1262259811	429	H>R		No	ClinGen TOPMed
rs987876577 CA287268508	430	W>G		No	ClinGen TOPMed
CA8327391 rs745391030	435	P>L		No	ClinGen ExAC gnomAD
rs1054470381 CA287268503	435	P>S		No	ClinGen Ensembl
rs150958602 CA397386175	436	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs150958602 CA8327389	436	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs199566558 CA287268487	437	D>H		No	ClinGen Ensembl
CA8327387 rs769616540	438	A>V		No	ClinGen ExAC gnomAD
CA287268481 rs376885817	442	S>N		No	ClinGen ESP TOPMed gnomAD
CA8327386 rs761901892	443	L>W		No	ClinGen ExAC TOPMed gnomAD
RCV000497388 rs142594927 CA8327384	447	T>I		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA8327383 rs75791559	448	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1169457871 CA397386045	450	P>S		No	ClinGen TOPMed gnomAD
CA8327382 rs199708697	451	E>K		No	ClinGen ExAC TOPMed gnomAD
CA397386019 rs1478019083	453	S>F		No	ClinGen gnomAD
CA8327379 rs778255342	457	T>M		No	ClinGen ExAC gnomAD
rs753132266 CA8327377	459	R>P		No	ClinGen ExAC gnomAD
CA397385986 rs753132266	459	R>Q		No	ClinGen ExAC gnomAD
CA287268431 rs202141327	459	R>W		No	ClinGen TOPMed gnomAD
CA8327375 rs754435383	461	T>A		No	ClinGen ExAC TOPMed
CA397385973 rs1312572209	462	A>T		No	ClinGen gnomAD
CA397385963 rs1303214094	463	L>R		No	ClinGen gnomAD
CA397385950 rs1220256014	465	N>S		No	ClinGen TOPMed
CA287268405 rs985122657	466	L>F		No	ClinGen Ensembl
rs765915741 CA8327373	466	L>R		No	ClinGen ExAC gnomAD
COSM1153110 rs1436858589 COSM1153109 COSM981617 CA397385941	467	I>V	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
CA397385930 rs1280048617	468	P>L		No	ClinGen gnomAD
rs1189615339 CA397385935	468	P>T		No	ClinGen gnomAD
CA8327372 rs762736310	470	L>S		No	ClinGen ExAC gnomAD
rs750173523 CA8327371	471	E>D		No	ClinGen ExAC gnomAD
CA287268388 rs201708860	472	Q>*		No	ClinGen gnomAD
CA397385909 rs201708860	472	Q>E		No	ClinGen gnomAD
CA287268384 rs200567716	473	A>T		No	ClinGen Ensembl
rs202231072 CA8327370	474	R>C		No	ClinGen ExAC TOPMed gnomAD
rs139498137 CA8327369	474	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA397385888 rs1270876139	475	W>C		No	ClinGen gnomAD
rs1223172032 CA397385885	476	V>I		No	ClinGen gnomAD
CA8327368 rs776674639	477	E>D		No	ClinGen ExAC TOPMed gnomAD
CA397385858 rs1478320178	480	G>E		No	ClinGen TOPMed
rs1597459641 CA397385853	481	F>V		No	ClinGen Ensembl
rs146314527 CA8327365	481	F>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1341134661 CA397385847	482	S>P		No	ClinGen gnomAD
rs1484398935 CA397385829	484	S>F		No	ClinGen TOPMed gnomAD
CA287268351 rs1056329192	487	K>R		No	ClinGen TOPMed
rs200847934 CA8327363	488	E>D		No	ClinGen ExAC gnomAD
rs1254455800 CA397385806	488	E>K		No	ClinGen gnomAD
rs953804728 CA397385695	496	D>E		No	ClinGen TOPMed
rs777990475 CA287268333	496	D>N		No	ClinGen Ensembl
CA8327361 rs777859040	497	E>K		No	ClinGen ExAC TOPMed gnomAD
rs200270341 CA287268320	499	Q>K		No	ClinGen Ensembl
rs1242145488 CA397385646	501	I>V		No	ClinGen gnomAD
CA287268317 rs796970246	503	A>V		No	ClinGen gnomAD
rs1302411337 CA397385582	505	R>K		No	ClinGen TOPMed
CA8327359 rs748534434	507	V>A		No	ClinGen ExAC gnomAD
CA287268306 rs867923720	508	K>Q		No	ClinGen Ensembl
CA397385512 rs1341063354	510	N>S		No	ClinGen TOPMed
RCV000762197 CA8327358 rs202109570	511	K>E		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA287268298 rs201206257	512	E>D		No	ClinGen TOPMed gnomAD
CA8327356 rs755517635	514	W>L		No	ClinGen ExAC TOPMed gnomAD
CA397385415 rs1380221036	516	L>P		No	ClinGen gnomAD
rs199897977 CA287268292	516	L>V		No	ClinGen Ensembl
rs1164341143 CA397385408	517	C>G		No	ClinGen gnomAD
rs1425612532 CA397385378	519	V>M		No	ClinGen gnomAD
CA397385327 rs1482809648	522	V>G		No	ClinGen gnomAD
CA397385319 rs756551531	523	S>C		No	ClinGen gnomAD
rs756551531 CA287268278	523	S>F		No	ClinGen gnomAD
CA8327354 rs779675944	526	A>T		No	ClinGen ExAC gnomAD
CA397385209 rs1268713181 COSM131446	531	M>I	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
CA397385202 rs1244944356	532	Q>E		No	ClinGen gnomAD
CA397385194 rs1322947463	532	Q>R		No	ClinGen gnomAD
rs112191372 CA8327353 RCV000762196	533	Q>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM1610511 COSM1610510 COSM1610512 rs138756363 CA8327351	536	R>Q	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA8327352 rs201070268	536	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA397385105 rs1398509141	538	E>G		No	ClinGen gnomAD
CA287268257 rs893719134	538	E>K		No	ClinGen Ensembl
rs761656607 CA8327350	539	K>E		No	ClinGen ExAC TOPMed gnomAD
CA287268248 rs200472397	539	K>R		No	ClinGen Ensembl
CA8327348 rs764094924	543	T>I		No	ClinGen ExAC TOPMed gnomAD
rs764094924 CA397385038	543	T>S		No	ClinGen ExAC TOPMed gnomAD
CA8327346 rs775300927	545	K>R		No	ClinGen ExAC TOPMed gnomAD
CA397385003 rs1597459408	546	T>P		No	ClinGen Ensembl
CA8327345 rs766412162	553	H>R		No	ClinGen ExAC TOPMed gnomAD
CA8327344 rs762970976	556	A>D		No	ClinGen ExAC TOPMed gnomAD
rs1017820157 CA287268218	556	A>T		No	ClinGen TOPMed
rs1262413583 CA397384859	557	Q>E		No	ClinGen gnomAD
rs1597459365 CA397384853	557	Q>R		No	ClinGen Ensembl
rs1210315640 CA397384842	558	A>D		No	ClinGen TOPMed gnomAD
rs1325595629 CA397384846	558	A>P		No	ClinGen TOPMed
rs1210315640 CA397384838	558	A>V		No	ClinGen TOPMed gnomAD
CA8327343 rs201536173	559	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000520367 rs201536173 CA8327342	559	L>V		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1263231439 CA397384807	561	A>P		No	ClinGen gnomAD
rs1243429523 CA397384792	562	Q>*		No	ClinGen gnomAD
rs748480974 CA8327341	562	Q>R		No	ClinGen ExAC gnomAD
rs1211479233 CA397384753	564	L>F		No	ClinGen Ensembl
rs371994894 CA8327339	565	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs199562946 CA287268200	567	Q>*		No	ClinGen Ensembl
CA8327337 rs780430904	567	Q>H		No	ClinGen ExAC gnomAD
CA397384695 rs1377343191	569	R>G		No	ClinGen gnomAD
CA8327336 rs757886032	571	L>F		No	ClinGen ExAC gnomAD
CA397384670 rs1207376091	571	L>R		No	ClinGen TOPMed
CA8327335 rs150220855	573	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA397384651 rs1446729781	575	A>T		No	ClinGen TOPMed
CA8327333 rs115799546	578	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8327332 RCV000522815 rs115799546	578	G>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8327331 rs763921064	578	G>V		No	ClinGen ExAC TOPMed gnomAD
rs199672615 CA287268172	579	I>V		No	ClinGen Ensembl
rs1434906509 CA397384616	580	W>*		No	ClinGen TOPMed gnomAD
rs1434906509 CA397384615	580	W>C		No	ClinGen TOPMed gnomAD
rs767373476 CA8327328	585	L>F		No	ClinGen ExAC gnomAD
rs542002959 CA287268166	587	S>G		No	ClinGen gnomAD
rs1567660588 CA397384565	587	S>R		No	ClinGen Ensembl
rs1196296062 CA397384558	588	P>L		No	ClinGen gnomAD
rs1338445712 CA397384517	594	H>R		No	ClinGen TOPMed
rs773203911 CA8327326	594	H>Y		No	ClinGen ExAC gnomAD
rs765440067 CA8327325	597	D>V		No	ClinGen ExAC gnomAD
rs776853587 CA8327323	598	G>E		No	ClinGen ExAC gnomAD
rs1379155100 CA397384487	599	A>T		No	ClinGen gnomAD
rs73973843 CA8327321	601	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201128344 CA287268135	602	S>F		No	ClinGen TOPMed
rs1403177370 CA397384459	603	T>I		No	ClinGen gnomAD
CA287268131 rs985147027	604	F>L		No	ClinGen gnomAD
rs772509197 CA8327319	605	L>S		No	ClinGen ExAC gnomAD
rs1375881719 CA397384440	606	K>R		No	ClinGen gnomAD
rs1198037478 CA397384436	607	M>V		No	ClinGen gnomAD
CA287268122 rs1052118337	608	G>C		No	ClinGen TOPMed gnomAD
CA397384423 rs1597459148	609	I>V		No	ClinGen Ensembl
CA8327318 rs745355942	610	L>V		No	ClinGen ExAC gnomAD
rs1336968493 CA397384393	613	H>Y		No	ClinGen TOPMed
CA8327316 rs202072495	616	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA397384365 rs1283426699	617	L>R		No	ClinGen gnomAD
rs1350590729 CA397384368	617	L>V		No	ClinGen TOPMed
rs1228288012 CA397384357	618	S>R		No	ClinGen gnomAD
CA8327314 rs777596549	619	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs202229698 CA287268104	625	C>R		No	ClinGen Ensembl
CA397384301 rs1241421772	626	F>S		No	ClinGen TOPMed gnomAD
CA8327311 rs149035689 COSM1589023 COSM1589022 COSM257530	629	F>L	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA397384270 rs201519972	630	F>C		No	ClinGen TOPMed gnomAD
rs201519972 CA287268090	630	F>S		No	ClinGen TOPMed gnomAD
CA8327310 rs144930253	631	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8327308 rs200548358	634	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs761886465 CA287268068	635	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA287268072 rs910759719	635	Y>C		No	ClinGen TOPMed gnomAD
CA397384239 rs910759719	635	Y>F		No	ClinGen TOPMed gnomAD
rs765241865 CA8327307	635	Y>H		No	ClinGen ExAC gnomAD
rs1597459032 CA397384224	638	E>K		No	ClinGen Ensembl
RCV000089275 CA018436 rs199475701	639	D>V		No	ClinGen ClinVar Ensembl dbSNP
rs754020347 CA8327305	639	D>Y		No	ClinGen ExAC gnomAD
CA8327304 rs764323302	641	K>N		No	ClinGen ExAC gnomAD
CA8327302 rs201014156	643	R>S		No	ClinGen ExAC TOPMed gnomAD
CA8327300 rs750702976	644	G>C		No	ClinGen ExAC TOPMed gnomAD
rs750702976 CA8327301	644	G>S		No	ClinGen ExAC TOPMed gnomAD
CA397384178 rs1597458997	645	K>E		No	ClinGen Ensembl
rs199953162 CA287268035	646	H>Y		No	ClinGen Ensembl
rs1189142093 CA397384154	648	N>S		No	ClinGen gnomAD
CA8327299 rs149910442	649	C>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs770522747 CA8327298	651	I>M		No	ClinGen ExAC gnomAD
CA397384136 rs1255839116	651	I>V		No	ClinGen TOPMed gnomAD
rs748825605 CA8327297	654	E>K		No	ClinGen ExAC gnomAD
CA397384101 rs1327592387	655	K>N		No	ClinGen TOPMed
COSM1563740 COSM1563739 COSM1563741 rs1389388603 CA397384104	655	K>R	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs769370941 CA8327294	656	T>M		No	ClinGen ExAC TOPMed gnomAD
rs769370941 CA8327295	656	T>R		No	ClinGen ExAC TOPMed gnomAD
CA8327292 rs780905238	659	A>T		No	ClinGen ExAC gnomAD
rs1340087143 CA397384079	659	A>V		No	ClinGen gnomAD
CA397384073 rs200051740	660	Y>*		No	ClinGen gnomAD
CA287267986 rs200051740	660	Y>*		No	ClinGen gnomAD
CA8327290 rs751432847	660	Y>C		No	ClinGen ExAC gnomAD
CA8327289 rs780000177	662	I>L		No	ClinGen ExAC gnomAD
CA8327288 rs757279356	664	G>A		No	ClinGen ExAC gnomAD
rs202057812 CA8327284	666	F>L		No	ClinGen ExAC TOPMed gnomAD
CA287267949 rs1014302762	667	G>A		No	ClinGen gnomAD
rs767718915 CA8327283	667	G>R		No	ClinGen ExAC gnomAD
rs200638674 CA8327282	668	A>S		No	ClinGen ExAC TOPMed gnomAD
CA397384025 rs1261697451	669	S>T		No	ClinGen gnomAD
rs61753139 CA8327281	670	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771610244 CA8327280	672	R>C		No	ClinGen ExAC TOPMed
rs201428106 CA8327279	672	R>H		No	ClinGen ExAC TOPMed gnomAD
CA8327277 rs769474487	675	L>F		No	ClinGen ExAC gnomAD
rs200830914 CA8327276	676	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1037236890 CA287267917	678	L>V		No	ClinGen Ensembl
CA8327275 rs199567688	679	S>I		No	ClinGen ExAC TOPMed gnomAD
CA8327274 RCV001200110 rs199567688	679	S>N		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs146030920 CA287267904	681	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA287267901 rs146030920	681	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs779945177 CA397383950	682	G>R		No	ClinGen ExAC gnomAD
CA8327272 rs779945177	682	G>W		No	ClinGen ExAC gnomAD
CA287267887 rs200362116	685	E>K		No	ClinGen Ensembl
CA8327270 rs61753138	686	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1393307277 CA397383915	687	E>K		No	ClinGen gnomAD
rs752820328 CA8327266	693	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8327267 rs201734090	693	R>W		No	ClinGen ExAC TOPMed gnomAD
rs564484112 CA8327262	695	S>P		No	ClinGen 1000Genomes ExAC gnomAD
rs763611997 CA8327261	696	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA287267838 rs878923386	697	G>R		No	ClinGen Ensembl
CA8327259 rs773781138	698	R>K		No	ClinGen ExAC TOPMed gnomAD
CA397383092 rs1597458759	699	N>T		No	ClinGen Ensembl
rs200289958 CA287267823	702	Q>H		No	ClinGen Ensembl
CA8327258 rs764582510	702	Q>R		No	ClinGen ExAC gnomAD
rs761418703 CA8327257	703	W>R		No	ClinGen ExAC gnomAD
CA397383059 rs1255981063	704	V>I		No	ClinGen gnomAD
CA8327256 rs776100273	705	P>L		No	ClinGen ExAC TOPMed gnomAD
CA287267808 rs201795199	706	S>P		No	ClinGen TOPMed
CA397383040 rs1597458704	707	L>P		No	ClinGen Ensembl
rs775334695 CA8327253	708	Q>*		No	ClinGen ExAC gnomAD
CA397383032 rs1331631284	708	Q>H		No	ClinGen gnomAD
rs375135349 CA8327252	709	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1397672716 CA397383019	711	L>P		No	ClinGen gnomAD
rs201871435 CA8327248	713	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs756095934 CA8327249	713	P>S		No	ClinGen ExAC gnomAD
rs1597458645 CA397383000	714	H>P		No	ClinGen Ensembl
CA8327247 rs147100948	714	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs755314780 CA8327246	715	S>P		No	ClinGen ExAC gnomAD
CA8327244 rs201817755	716	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1597458612 CA397382989	717	E>K		No	ClinGen Ensembl
rs1597458606 CA397382980	718	S>P		No	ClinGen Ensembl
rs1250939556 CA397382974	719	L>F		No	ClinGen gnomAD
rs1364469424 CA397382971	719	L>P		No	ClinGen TOPMed
rs200978743 CA287267756	720	H>R		No	ClinGen gnomAD
CA397382949 rs1280657159	722	L>F		No	ClinGen gnomAD
CA8327240 rs765797431	725	T>N		No	ClinGen ExAC gnomAD
CA8327237 rs201736619	726	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1383796387 CA397382883	728	K>I		No	ClinGen TOPMed
COSM1259195 COSM1259194 rs972692630 COSM179188 CA287267737	729	T>M	oesophagus large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1597458524 CA397382856	730	F>S		No	ClinGen Ensembl
rs199674811 CA8327234	733	Q>*		No	ClinGen ExAC gnomAD
rs199674811 CA8327233	733	Q>E		No	ClinGen ExAC gnomAD
CA287267713 rs980622996	733	Q>R		No	ClinGen Ensembl
CA287267709 rs201740123	734	V>L		No	ClinGen Ensembl
CA8327232 rs774130453	735	M>V		No	ClinGen ExAC gnomAD
CA397382774 rs1182598668	737	H>P		No	ClinGen gnomAD
CA397382754 rs199601083	738	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1239048973 CA397382759	738	F>Y		No	ClinGen TOPMed gnomAD
CA8327230 rs373530609	739	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747159744 CA8327227	739	E>D		No	ClinGen ExAC gnomAD
CA8327229 COSM228193 rs373530609	739	E>K	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs755122506 CA8327228	739	E>V		No	ClinGen ExAC gnomAD
CA8327226 rs780452954	741	M>R		No	ClinGen ExAC gnomAD
rs780452954 CA397382724	741	M>T		No	ClinGen ExAC gnomAD
CA287267662 rs200627043	743	M>I		No	ClinGen Ensembl
rs758788129 CA287267668	743	M>L		No	ClinGen ExAC TOPMed gnomAD
CA8327225 rs758788129	743	M>V		No	ClinGen ExAC TOPMed gnomAD
rs750850333 CA8327224	744	C>R		No	ClinGen ExAC gnomAD
rs1301524540 CA397382673	749	M>V		No	ClinGen TOPMed gnomAD
rs779256831 CA397382637	751	L>H		No	ClinGen ExAC gnomAD
rs779256831 CA8327223	751	L>R		No	ClinGen ExAC gnomAD
rs1446066517 CA397382605	753	V>A		No	ClinGen TOPMed
CA397382533 rs1300542743	758	I>V		No	ClinGen gnomAD
CA397382513 rs1597458398	759	K>T		No	ClinGen Ensembl
CA8327221 rs146908613	762	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8327220 rs201522159	762	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1347475072 CA397382458	763	H>N		No	ClinGen TOPMed
CA397382448 rs200629933	763	H>Q		No	ClinGen ESP ExAC gnomAD
CA8327218 rs140677797	764	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8327217 rs140677797	764	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1454754669 CA397382418	765	K>N		No	ClinGen TOPMed
rs1485196879 CA397382381	768	Q>R		No	ClinGen gnomAD
CA8327216 rs759218321	770	I>T		No	ClinGen ExAC TOPMed gnomAD
CA397382346 rs1308980020	771	E>A		No	ClinGen TOPMed
rs147988553 CA8327215 RCV000788945	771	E>K		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA8327214 rs770756924	773	R>K		No	ClinGen ExAC gnomAD
CA397382309 rs570619445	773	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA397382289 rs1291032953	775	H>Y		No	ClinGen gnomAD
CA8327210 rs747106702	777	S>P		No	ClinGen ExAC TOPMed gnomAD
CA287267592 rs867951807	778	T>A		No	ClinGen Ensembl
CA397382240 rs1242167718	779	W>S		No	ClinGen TOPMed
rs780401839 CA8327209	780	S>G		No	ClinGen ExAC gnomAD
CA287267586 rs555859403	780	S>N		No	ClinGen gnomAD
rs1459491673 CA397382210	781	P>L		No	ClinGen gnomAD
CA287267576 rs201368394	781	P>S		No	ClinGen ExAC TOPMed gnomAD
CA8327208 rs201368394	781	P>T		No	ClinGen ExAC TOPMed gnomAD
CA8327207 rs52795654	782	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA397382188 rs1423995866	783	M>I		No	ClinGen gnomAD
CA8327205 rs757578881	783	M>T		No	ClinGen ExAC gnomAD
CA8327206 rs779392816	783	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1417831349 CA397382186	784	V>I		No	ClinGen TOPMed
CA397381898 rs1236000617	787	F>L		No	ClinGen gnomAD
rs201242109 CA287264856	788	R>S		No	ClinGen Ensembl
CA397381874 rs1399652608	788	R>T		No	ClinGen TOPMed
CA287264853 rs904878313	789	W>L		No	ClinGen TOPMed
CA8327176 rs765969191	790	V>A		No	ClinGen ExAC gnomAD
CA397381832 rs1301174577	791	P>A		No	ClinGen gnomAD
CA8327174 rs750284811	792	V>L		No	ClinGen ExAC gnomAD
COSM1384790 rs1365929872 COSM1384789 COSM1384788 CA397381744	797	W>*	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs143323772 CA8327168	803	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8327165 rs773622274	805	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1381809100 CA397381634	806	V>D		No	ClinGen gnomAD
CA397381589 rs1276968953	810	L>P		No	ClinGen Ensembl
rs371730973 CA8327164	810	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA397381526 rs1188238250	816	S>R		No	ClinGen TOPMed
CA8327161 rs201036847	821	S>R		No	ClinGen ExAC gnomAD
CA8327162 rs781578724	821	S>T		No	ClinGen ExAC gnomAD
CA397381391 rs1471513430	823	S>A		No	ClinGen TOPMed
CA8327159 rs200269854	823	S>F		No	ClinGen ExAC TOPMed gnomAD
CA287264786 rs1029503944	824	A>V		No	ClinGen gnomAD
CA397381349 rs1479798998	825	V>A		No	ClinGen TOPMed gnomAD
rs758053344 CA8327157	825	V>M		No	ClinGen ExAC gnomAD
rs201210992 CA8327156	826	K>N		No	ClinGen ExAC gnomAD
CA287264754 rs997478663	828	L>F		No	ClinGen gnomAD
rs199880662 CA287264750	829	C>S		No	ClinGen Ensembl
CA287264726 rs201965456	830	K>E		No	ClinGen Ensembl
rs1426615819 CA397381239	831	T>N		No	ClinGen gnomAD
CA287264719 rs201035886	833	R>K		No	ClinGen Ensembl
rs1440878131 CA397381204	833	R>S		No	ClinGen TOPMed
CA8327154 rs200045571	834	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8327153 rs757124919	834	R>H		No	ClinGen ExAC TOPMed gnomAD
CA397381164 rs1416367311	836	R>C		No	ClinGen gnomAD
CA8327152 rs201879763	836	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200457047 CA8327151	837	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs934802760 CA287264682	839	L>P		No	ClinGen TOPMed
rs1377504129 CA397381044	842	L>V		No	ClinGen TOPMed
CA8327147 rs201380144 RCV000996464	843	R>Q		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA8327148 rs199682508	843	R>W		No	ClinGen ExAC gnomAD
rs1183044351 CA397379578	844	L>F		No	ClinGen TOPMed
CA8327129 rs752690433	845	A>V		No	ClinGen ExAC gnomAD
rs1476696919 CA397379551	847	C>Y		No	ClinGen gnomAD
CA397379536 rs1455899757	848	G>V		No	ClinGen TOPMed
rs763049518 CA8327127	849	L>V		No	ClinGen ExAC gnomAD
rs750592708 CA8327126	850	T>A		No	ClinGen ExAC gnomAD
rs1292294705 CA397379508	851	A>D		No	ClinGen TOPMed gnomAD
CA287256442 rs202054310	854	C>Y		No	ClinGen Ensembl
CA397379436 rs1272394836	856	D>G		No	ClinGen gnomAD
CA8327123 rs200459692	858	A>P		No	ClinGen ExAC gnomAD
CA287256427 rs200459692	858	A>T		No	ClinGen ExAC gnomAD
rs769192656 CA8327122	859	F>Y		No	ClinGen ExAC gnomAD
CA397379375 rs1401475960	860	G>R		No	ClinGen TOPMed
rs771671431 CA8327120	862	R>S		No	ClinGen ExAC gnomAD
rs1327517597 CA397379328	863	A>T		No	ClinGen gnomAD
rs1438342107 CA397379307	864	N>S		No	ClinGen gnomAD
CA8327117 rs146505967	869	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA397379158 rs1597432361	871	D>E		No	ClinGen Ensembl
rs770751448 CA8327116	873	S>G		No	ClinGen ExAC gnomAD
CA8327115 rs749092805	874	F>V		No	ClinGen ExAC gnomAD
rs777369219 CA8327114	875	N>D		No	ClinGen ExAC TOPMed gnomAD
rs777369219 CA287256388	875	N>H		No	ClinGen ExAC TOPMed gnomAD
rs202218652 CA8327113	875	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs11657747 CA8327111	878	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765440345 CA8327108	880	A>T		No	ClinGen ExAC gnomAD
CA397378955 rs1196739756	882	A>G		No	ClinGen TOPMed
rs747885414 CA287256337	882	A>P		No	ClinGen Ensembl
CA8327107 rs139685583	883	K>R		No	ClinGen ExAC TOPMed gnomAD
CA397378912 rs1597432293	884	H>P		No	ClinGen Ensembl
CA397378903 rs1270805419	884	H>Q		No	ClinGen gnomAD
rs754104720 CA8327106	885	L>F		No	ClinGen ExAC gnomAD
CA287256323 rs373301396	889	L>P		No	ClinGen ESP TOPMed gnomAD
rs1288149640 CA397378786 COSM21805	890	R>K	breast [Cosmic]	No	ClinGen cosmic curated Ensembl
CA8327104 rs761134494	892	P>L		No	ClinGen ExAC gnomAD
rs768190470 CA8327102	893	S>R		No	ClinGen ExAC gnomAD
CA8327100 rs774057957	896	L>V		No	ClinGen ExAC gnomAD
CA397378653 rs1328582258	897	Q>K		No	ClinGen TOPMed gnomAD
CA8327098 rs748822870	898	R>*		No	ClinGen ExAC gnomAD
rs149831544 CA8327097	898	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM981606 COSM1153107 rs1171910404 COSM1153108 CA397378618	900	Q>*	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA8327072 rs200956448	902	V>D		No	ClinGen 1000Genomes ExAC gnomAD
rs779999981 CA8327073	902	V>F		No	ClinGen ExAC gnomAD
CA8327071 rs200956448	902	V>G		No	ClinGen 1000Genomes ExAC gnomAD
CA397377556 rs1451659614	903	S>C		No	ClinGen gnomAD
CA397377555 rs1451659614	903	S>G		No	ClinGen gnomAD
rs1451659614 CA397377554	903	S>R		No	ClinGen gnomAD
CA287254743 rs200042020	904	C>S		No	ClinGen gnomAD
rs201871866 CA397377514	904	C>W		No	ClinGen ExAC gnomAD
CA8327068 rs753102272	907	T>M		No	ClinGen ExAC TOPMed gnomAD
CA397377464 rs1474860713	908	S>P		No	ClinGen gnomAD
rs755422854 CA8327066	910	C>Y		No	ClinGen ExAC gnomAD
CA397377422 rs1427571381	911	C>R		No	ClinGen TOPMed
rs1164789391 CA397377407	912	Q>*		No	ClinGen TOPMed
CA397377393 rs1419431079	913	D>Y		No	ClinGen TOPMed
rs148522172 CA8327065	915	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs924790686 CA287254724	916	S>P		No	ClinGen TOPMed
CA397377347 rs1259793010	917	V>M		No	ClinGen gnomAD
rs750015659 CA8327062	919	S>N		No	ClinGen ExAC gnomAD
rs762337004 CA8327063	919	S>R		No	ClinGen ExAC gnomAD
CA397377281 rs1308621637	922	P>A		No	ClinGen gnomAD
rs897017157 CA397377274	922	P>L		No	ClinGen gnomAD
CA287254712 rs897017157	922	P>R		No	ClinGen gnomAD
rs1308621637 CA397377279	922	P>S		No	ClinGen gnomAD
rs202024178 CA287254707	925	K>N		No	ClinGen gnomAD
rs1049068157 CA287254683	928	D>H		No	ClinGen Ensembl
rs1326643634 CA397377172	931	Q>*		No	ClinGen gnomAD
rs977556317 CA287254675	933	N>D		No	ClinGen TOPMed gnomAD
rs1162582137 CA397377115	934	L>P		No	ClinGen gnomAD
CA8327058 rs748437256	934	L>P		No	ClinGen ExAC
CA8327057 rs200875871	935	D>N		No	ClinGen ExAC TOPMed gnomAD
CA8327054 rs201740824	937	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA397377076 rs201740824	937	V>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs760487890 CA8327055 COSM179181	937	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA397377065 rs1193709046	938	G>A		No	ClinGen gnomAD
rs1260504045 CA397377070	938	G>R		No	ClinGen gnomAD
rs61754791 CA8327052	939	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs61754791 CA8327051	939	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8327050 rs769764122	940	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA397377014 rs1253608844	943	C>Y		No	ClinGen gnomAD
rs201494607 CA287254597	944	E>D		No	ClinGen TOPMed
CA8327048 rs143175019	947	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1304303159 CA397376947	948	H>L		No	ClinGen gnomAD
rs200723981 CA8327047	948	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA8327046 rs752010162	949	P>T		No	ClinGen ExAC TOPMed gnomAD
CA8327045 rs780418911	951	C>Y		No	ClinGen ExAC gnomAD
CA397376891 rs1325431899	953	L>I		No	ClinGen TOPMed gnomAD
CA8327044 rs759000815	954	I>V		No	ClinGen ExAC gnomAD
rs1597427910 RCV000788796	955	R>missing		No	ClinVar dbSNP
CA8327042 rs139267837	955	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147319843 CA8327040	955	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA8327041 rs147319843	955	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs753441449 CA8327039	956	L>P		No	ClinGen ExAC gnomAD
CA8327037 rs377182366	957	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs377182366 CA397376843	957	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA287252525 rs201888199	960	Q>H		No	ClinGen Ensembl
CA8327012 rs761973445	962	T>I		No	ClinGen ExAC gnomAD
rs1353447223 CA397375905	963	L>P		No	ClinGen gnomAD
CA397375894 rs1486245506	964	S>N		No	ClinGen TOPMed gnomAD
CA397375899 rs1597422671	964	S>R		No	ClinGen Ensembl
rs776919667 CA8327011	966	E>G		No	ClinGen ExAC gnomAD
COSM3795836 COSM3795834 rs1214557504 COSM3795835 CA397375842	967	M>I	urinary_tract [Cosmic]	No	ClinGen cosmic curated TOPMed
rs747195699 CA8327009	967	M>K		No	ClinGen ExAC gnomAD
rs768862341 CA8327010	967	M>L		No	ClinGen ExAC gnomAD
rs768862341 CA397375852	967	M>L		No	ClinGen ExAC gnomAD
rs1156384511 CA397375834	968	R>K		No	ClinGen gnomAD
rs937049237 CA287252480	972	R>S		No	ClinGen TOPMed gnomAD
CA8327007 rs772441405	973	A>V		No	ClinGen ExAC gnomAD
CA287252475 rs201808181	975	E>K		No	ClinGen TOPMed
CA8327006 rs746257606	976	Q>E		No	ClinGen ExAC gnomAD
CA287252468 rs200909159	976	Q>H		No	ClinGen gnomAD
CA397375699 rs1194021561	977	E>*		No	ClinGen gnomAD
CA397375674 rs7215856	978	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779450893 CA8327005	978	K>R		No	ClinGen ExAC gnomAD
rs201629736 CA287252435	979	P>L		No	ClinGen Ensembl
rs1204833684 CA397375652	980	Q>L		No	ClinGen gnomAD
CA287252428 rs199805407	982	L>F		No	ClinGen 1000Genomes
rs1567644048 CA397375597	985	S>G		No	ClinGen Ensembl
rs539953884 CA8326999	987	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA8327000 COSM179180 rs199748129	987	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8326977 rs750346142	988	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA8326976 rs765304818	988	K>R		No	ClinGen ExAC TOPMed gnomAD
CA8326973 rs200746858	992	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA397392135 rs1272326044	994	P>L		No	ClinGen gnomAD
CA397392133 rs1347891113	995	T>A		No	ClinGen TOPMed gnomAD
rs34733791 CA8326971	995	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA397392132 rs1347891113	995	T>S		No	ClinGen TOPMed gnomAD
rs1411738827 CA397392127 COSM383890	996	E>*	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA397392118 rs1466723181	997	G>A		No	ClinGen TOPMed
CA397392112 rs1280557455	998	L>P		No	ClinGen TOPMed gnomAD
CA8326968 rs202125502	999	D>G		No	ClinGen ExAC TOPMed gnomAD
COSM246051 rs140976022 CA8326967	1000	T>M	prostate [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA287287527 rs994779944	1001	G>A		No	ClinGen TOPMed
rs780502565 CA8326964	1002	E>*		No	ClinGen ExAC gnomAD
COSM460285 rs1407966471 CA397392081 COSM1134485 COSM1134484	1003	M>I	cervix [Cosmic]	No	ClinGen cosmic curated TOPMed
rs962300215 CA397392085	1003	M>L		No	ClinGen TOPMed gnomAD
CA287287525 rs962300215	1003	M>V		No	ClinGen TOPMed gnomAD
CA397392074 rs1414163601	1004	S>T		No	ClinGen gnomAD
CA287287517 rs201648915	1006	S>C		No	ClinGen 1000Genomes
CA287287520 rs201648915	1006	S>G		No	ClinGen 1000Genomes
CA8326963 rs768225901	1006	S>N		No	ClinGen ExAC gnomAD
rs970326050 CA287287514	1007	T>A		No	ClinGen Ensembl
CA8326962 rs746611814	1008	S>F		No	ClinGen ExAC gnomAD
rs1345979491 CA397392045	1009	S>A		No	ClinGen TOPMed
rs201719364 CA8326960	1012	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1589026 COSM1589027 RCV000788933 rs779883990 COSM981601 CA8326961	1012	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
CA397392012 rs1272719133	1014	R>I		No	ClinGen TOPMed
rs750291127 CA8326959	1015	L>P		No	ClinGen ExAC gnomAD
rs1284466715 CA397392002	1016	G>E		No	ClinGen gnomAD
CA8326957 rs757205574	1016	G>R		No	ClinGen ExAC gnomAD
rs1284466715 CA397392000	1016	G>V		No	ClinGen gnomAD
rs757086251 CA8326939	1019	R>K		No	ClinGen ExAC gnomAD
CA287286958 rs35728399	1020	A>P		No	ClinGen ExAC gnomAD
CA8326938 rs35728399	1020	A>S		No	ClinGen ExAC gnomAD
CA8326937 rs777794047	1020	A>V		No	ClinGen ExAC TOPMed gnomAD
rs200731752 CA287286923	1023	H>R		No	ClinGen gnomAD
CA397391944 rs1470053384	1024	V>I		No	ClinGen gnomAD
CA397391905 rs1264219239	1029	L>R		No	ClinGen gnomAD
rs1308564087 CA397391904	1030	K>E		No	ClinGen gnomAD
CA397391900 rs1248273800	1030	K>R		No	ClinGen TOPMed
CA287286871 rs755610793	1031	L>F		No	ClinGen Ensembl
rs1391118983 CA397391882	1033	D>G		No	ClinGen gnomAD
CA287286856 rs199590252	1034	V>M		No	ClinGen TOPMed gnomAD
rs1241064729 CA397391870	1035	S>N		No	ClinGen TOPMed
CA287286853 rs903368904	1038	F>L		No	ClinGen TOPMed gnomAD
CA397391817 rs1183023066	1042	E>D		No	ClinGen TOPMed
rs376030014 CA8326933	1043	I>T		No	ClinGen ESP ExAC TOPMed
CA287286844 rs751581231	1043	I>V		No	ClinGen Ensembl
CA397391760 rs1375519037	1045	E>G		No	ClinGen gnomAD
rs373414808 CA8326932	1045	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs780053090 CA8326916	1047	S>I		No	ClinGen ExAC gnomAD
rs750571630 CA8326914	1049	P>R		No	ClinGen ExAC gnomAD
COSM347067 rs758498070 CA8326915	1049	P>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA397391720 rs1281176543	1051	V>A		No	ClinGen TOPMed gnomAD
CA397391722 rs757538360	1051	V>I		No	ClinGen ExAC TOPMed gnomAD
rs757538360 CA8326912	1051	V>L		No	ClinGen ExAC TOPMed gnomAD
rs771994934 CA287286551	1052	V>I		No	ClinGen Ensembl
rs200967626 CA8326909	1053	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1255587881 CA397391711	1053	P>S		No	ClinGen gnomAD
rs767084177 CA8326907	1055	E>D		No	ClinGen ExAC gnomAD
rs371934404 CA8326906	1056	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1031810744 CA287286519	1056	L>R		No	ClinGen Ensembl
CA8326905 rs201818260	1057	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs2301582 CA8326904	1059	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1453984205 CA397391668	1060	P>L		No	ClinGen TOPMed gnomAD
rs190250281 CA8326901	1063	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA397391648 rs1472580695	1064	S>P		No	ClinGen gnomAD
CA397391640 rs1201367991	1065	Q>P		No	ClinGen TOPMed
CA397391629 rs1258773668	1067	D>Y		No	ClinGen gnomAD
rs199953452 CA287286494	1068	L>V		No	ClinGen Ensembl
CA397391612 rs1447791785	1069	H>Q		No	ClinGen gnomAD
CA8326900 rs9907167	1069	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA397391605 rs1440706030	1070	T>M		No	ClinGen gnomAD
rs149973177 CA8326897	1072	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1141203 COSM1141202 rs149973177 COSM561666 CA397391596	1072	P>S	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs149973177 CA8326898	1072	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8326895 rs367794265	1073	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1406951984 CA397391564	1077	D>A		No	ClinGen gnomAD
CA8326893 COSM131197 rs754009366	1077	D>N	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA397391538 rs1293757516	1080	W>S		No	ClinGen gnomAD
CA397391521 rs1173064381	1083	T>A		No	ClinGen TOPMed gnomAD
CA8326891 rs756567220	1083	T>M		No	ClinGen ExAC TOPMed gnomAD
CA8326889 rs768175977	1087	A>V		No	ClinGen ExAC gnomAD
CA8326888 rs758960121	1088	T>I		No	ClinGen ExAC gnomAD
rs758960121 CA397391491	1088	T>N		No	ClinGen ExAC gnomAD
CA397391476 rs1597413745	1090	V>G		No	ClinGen Ensembl
rs147476143 CA8326886	1092	D>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA397391461 rs1165447064	1093	K>E		No	ClinGen gnomAD
rs868584445 CA287286435	1094	E>*		No	ClinGen Ensembl
CA8326884 rs762611914	1095	K>E		No	ClinGen ExAC gnomAD
rs1597413723 CA397391445	1095	K>T		No	ClinGen Ensembl
rs1369534046 CA397391440	1096	N>D		No	ClinGen TOPMed
CA8326883 rs772763055	1097	L>F		No	ClinGen ExAC gnomAD
rs769539719 CA8326882	1099	R>*		No	ClinGen ExAC TOPMed gnomAD
rs199505053 CA8326881	1099	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs769475535 CA8326857	1102	F>L		No	ClinGen ExAC TOPMed gnomAD
CA287284850 rs201764159	1103	P>L		No	ClinGen Ensembl
rs749363631 CA8326856	1103	P>S		No	ClinGen ExAC gnomAD
CA287284831 rs200247722	1104	V>I		No	ClinGen Ensembl
CA287284826 rs754379466	1106	G>S		No	ClinGen Ensembl
rs773542915 COSM3378261 CA8326855 COSM3378259 COSM3378260	1109	R>C	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8326854 rs532221052	1109	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748390216 CA8326853	1110	W>*		No	ClinGen ExAC gnomAD
rs781643980 CA8326852	1111	P>R		No	ClinGen ExAC gnomAD
CA287284808 rs202204276	1112	N>I		No	ClinGen ExAC TOPMed gnomAD
CA8326851 rs202204276	1112	N>S		No	ClinGen ExAC TOPMed gnomAD
CA8326850 rs761505501	1113	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1330070805 CA397390897	1113	T>S		No	ClinGen gnomAD
rs757904290 CA8326848	1114	G>C		No	ClinGen ExAC TOPMed gnomAD
CA8326847 rs566415343	1116	C>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1435625265 CA397390864	1116	C>R		No	ClinGen gnomAD
CA8326846 rs35596958	1119	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8326845 rs756836106	1121	E>D		No	ClinGen ExAC
rs530274359 CA8326844	1122	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA8326843 rs763899886	1123	V>M		No	ClinGen ExAC TOPMed gnomAD
rs201871081 CA8326842 COSM259062	1125	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs368992059 CA8326841	1126	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs767399891 CA8326840	1127	I>T		No	ClinGen ExAC gnomAD
COSM1589031 COSM981599 CA8326839 COSM1589030 rs763107742	1129	F>L	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8326838 rs773363198	1130	C>R		No	ClinGen ExAC gnomAD
CA397390650 rs1280496006	1132	W>R		No	ClinGen gnomAD
CA287284747 rs200758471	1133	D>N		No	ClinGen Ensembl
rs200029168 CA8326837	1134	Q>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1381565910 CA397390576	1137	G>D		No	ClinGen gnomAD
COSM1166829 CA397390567 COSM1166830 rs201803660 COSM1166828	1138	E>D	ovary [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
COSM1166829 CA8326835 COSM1166830 rs201803660 COSM1166828	1138	E>D	ovary [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1361119748 CA397390543	1142	Q>*		No	ClinGen gnomAD
CA397390537 rs1189864662	1143	H>N		No	ClinGen Ensembl
rs1597409147 CA397390525	1144	S>T		No	ClinGen Ensembl
rs747384144 CA8326833	1145	W>*		No	ClinGen ExAC TOPMed gnomAD
rs780598824 CA8326832	1147	V>M		No	ClinGen ExAC gnomAD
rs201003290 CA397390498	1148	A>S		No	ClinGen gnomAD
rs201003290 CA287284700	1148	A>T		No	ClinGen gnomAD
CA397390495 rs1159592280	1148	A>V		No	ClinGen gnomAD
CA8326829 rs778334036	1155	K>R		No	ClinGen ExAC gnomAD
rs756780801 CA8326828	1156	A>P		No	ClinGen ExAC gnomAD
rs1207663827 CA397390427	1159	G>E		No	ClinGen gnomAD
rs181119217 CA8326824	1163	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1567639011 CA397390393	1165	H>D		No	ClinGen Ensembl
rs767352453 CA8326823	1166	L>F		No	ClinGen ExAC gnomAD
CA8326822 rs759491315	1167	P>A		No	ClinGen ExAC gnomAD
rs774456855 CA8326821	1168	H>R		No	ClinGen ExAC gnomAD
CA397390360 rs1351532055	1170	V>L		No	ClinGen TOPMed
rs765372140 CA8326820	1171	A>P		No	ClinGen ExAC gnomAD
CA397390348 rs1420045454	1172	L>F		No	ClinGen gnomAD
rs762024829 CA8326819	1173	Q>*		No	ClinGen ExAC gnomAD
rs150677537 CA8326818	1173	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA397390338 rs1458584477	1174	G>R		No	ClinGen gnomAD
CA287278971 rs868163916	1175	G>C		No	ClinGen Ensembl
COSM349383 CA397389502 rs1207603298	1175	G>V	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs369786267 CA8326792	1176	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA397389499 rs1364699559	1176	H>Y		No	ClinGen gnomAD
CA287278951 rs375128266	1178	D>N		No	ClinGen ESP TOPMed
CA397389457 rs1172745213	1182	F>L		No	ClinGen gnomAD
CA397389461 rs1395335732	1182	F>Y		No	ClinGen gnomAD
rs146932154 CA8326788 RCV000455449	1184	M>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8326789 RCV000455985 rs11651270	1184	M>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1474111916 CA397389437	1185	A>D		No	ClinGen TOPMed gnomAD
CA8326786 rs754897099	1186	H>N		No	ClinGen ExAC gnomAD
CA397389421 rs1414781435	1187	F>L		No	ClinGen gnomAD
rs1194992996 CA397389394	1191	G>W		No	ClinGen gnomAD
rs1369332483 CA397389384	1192	M>I		No	ClinGen TOPMed
rs200259296 CA8326785	1193	L>I		No	ClinGen ExAC TOPMed gnomAD
CA397389357 rs758345242	1196	K>N		No	ClinGen ExAC gnomAD
CA8326782 rs764029749	1197	P>A		No	ClinGen ExAC gnomAD
rs764029749 CA8326783	1197	P>T		No	ClinGen ExAC gnomAD
rs760839301 CA8326781	1198	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1597397715 CA397389334	1200	V>G		No	ClinGen Ensembl
CA397389339 rs1225106726	1200	V>M		No	ClinGen gnomAD
CA8326777 rs774761887	1203	H>R		No	ClinGen ExAC gnomAD
CA8326776 rs144843601	1205	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs866602691 CA397389292	1207	L>V		No	ClinGen TOPMed
rs971660228 CA287278903	1209	N>I		No	ClinGen TOPMed gnomAD
CA287278902 rs371498600	1209	N>K		No	ClinGen ESP TOPMed gnomAD
rs763323189 CA8326775	1211	S>G		No	ClinGen ExAC gnomAD
CA287278892 rs79551629	1211	S>N		No	ClinGen Ensembl
CA8326773 COSM271422 rs769160254	1213	S>F	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs958676690 CA287278869	1216	G>E		No	ClinGen TOPMed
rs747746452 CA8326772	1218	L>P		No	ClinGen ExAC gnomAD
CA397389190 rs1157661743	1223	H>Y		No	ClinGen gnomAD
CA8326770 rs768490704	1224	N>K		No	ClinGen ExAC gnomAD
rs202200247 CA8326769	1227	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8326768 rs201034105	1227	R>H		No	ClinGen ExAC TOPMed gnomAD
rs201034105 CA397389163	1227	R>P		No	ClinGen ExAC TOPMed gnomAD
CA8326767 rs758233707	1228	F>S		No	ClinGen ExAC gnomAD
CA8326766 rs114529583	1231	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs908019945 CA287278818	1240	R>C		No	ClinGen TOPMed gnomAD
CA8326764 rs199948263	1240	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs11653832 CA8326762	1241	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs11653832 CA8326761	1241	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs11653832 CA8326760	1241	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA397389067 rs1160365712	1243	P>L		No	ClinGen TOPMed
rs766692973 CA8326759	1243	P>S		No	ClinGen ExAC gnomAD
rs763418835 CA8326758	1244	E>Q		No	ClinGen ExAC gnomAD
CA397389060 rs1331493206	1244	E>V		No	ClinGen gnomAD
rs1597397567 CA397389039	1247	T>I		No	ClinGen Ensembl
CA287278738 rs201007063	1247	T>P		No	ClinGen gnomAD
rs201815724 CA287278727	1248	F>L		No	ClinGen gnomAD
RCV000089285 CA018506 rs199475704	1249	H>Q		No	ClinGen ClinVar Ensembl dbSNP
CA397389024 rs1367877468	1250	L>V		No	ClinGen gnomAD
CA287278709 rs200659907	1256	D>N		No	ClinGen gnomAD
rs776215822 CA8326754	1260	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1153101 COSM1153102 rs747487022 COSM981595 CA287278696	1260	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA287278676 COSM332299 rs539856705	1261	K>N	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes
rs937489690 CA287278166	1262	A>S		No	ClinGen TOPMed gnomAD
rs140309319 CA8326728	1263	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1271959892 CA397388914	1265	D>Y		No	ClinGen gnomAD
CA397388885 rs1346227688	1269	K>Q		No	ClinGen gnomAD
CA397388866 rs1404233127	1271	Q>R		No	ClinGen TOPMed
rs773583431 CA397388861	1272	F>I		No	ClinGen gnomAD
CA287278156 rs773583431	1272	F>V		No	ClinGen gnomAD
CA397388859 rs1231761838	1272	F>Y		No	ClinGen gnomAD
CA397388852 rs1439549129	1273	V>A		No	ClinGen TOPMed gnomAD
rs770642427 CA8326727	1273	V>M		No	ClinGen ExAC gnomAD
rs866926418 CA287278153	1274	R>*		No	ClinGen gnomAD
CA8326726 rs749187188	1274	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1331612700 CA397388814	1279	P>H		No	ClinGen gnomAD
rs768703621 CA8326724	1280	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8326722 rs780135559	1281	L>P		No	ClinGen ExAC TOPMed gnomAD
CA8326720 rs750625021	1286	M>I		No	ClinGen ExAC TOPMed gnomAD
CA397388772 rs1174086293	1286	M>T		No	ClinGen gnomAD
COSM1147816 rs1407715631 CA397388764 COSM706777 COSM1147815	1287	G>D	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1157252244 CA397388760	1288	C>G		No	ClinGen gnomAD
COSM981594 COSM1384682 CA8326718 rs757725753 COSM1384681	1289	R>C	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs151213275 CA8326717	1289	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs151213275 CA287278076	1289	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8326716 rs764746695	1290	Y>*		No	ClinGen ExAC gnomAD
rs1442614925 CA397388742	1291	T>N		No	ClinGen gnomAD
rs760248054 CA8326715	1291	T>P		No	ClinGen ExAC gnomAD
rs760248054 CA397388743	1291	T>S		No	ClinGen ExAC gnomAD
rs1238951606 CA397388731	1293	S>P		No	ClinGen gnomAD
rs370329115 CA8326714	1294	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs370329115 CA397388724	1294	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs772537562 CA287278048	1296	G>S		No	ClinGen Ensembl
rs1323454450 CA397388706	1297	S>L		No	ClinGen gnomAD
rs766937839 CA8326713	1298	G>A		No	ClinGen ExAC TOPMed gnomAD
rs766937839 CA397388702	1298	G>E		No	ClinGen ExAC TOPMed gnomAD
rs759166412 CA8326712	1299	M>K		No	ClinGen ExAC gnomAD
rs1230759442 CA397388698	1299	M>L		No	ClinGen gnomAD
rs200731183 CA287278028	1300	L>V		No	ClinGen Ensembl
rs1279000950 CA397388679	1302	I>V		No	ClinGen gnomAD
rs1467979441 CA397388656	1305	K>N		No	ClinGen gnomAD
CA8326710 rs143196732	1305	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA397388659 rs1335969869 COSM294619	1305	K>R	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs200713360 CA8326697	1308	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA397388618 rs1597393708	1309	L>P		No	ClinGen Ensembl
rs141522655 CA8326696	1310	C>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA8326695 COSM1589034 COSM1589035 COSM981593 rs754489472	1312	R>*	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA8326694 rs765377790	1312	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8326693 rs766081243	1313	S>G		No	ClinGen ExAC
CA8326690 rs765031318	1316	E>K		No	ClinGen ExAC gnomAD
rs761691866 CA8326689	1317	D>E		No	ClinGen ExAC TOPMed gnomAD
CA397388567 rs1485196498	1317	D>V		No	ClinGen gnomAD
CA397388539 COSM1589037 COSM981592 COSM1589036 rs1289681813	1321	S>L	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA397388543 rs1323644222	1321	S>P		No	ClinGen gnomAD
CA397388537 rs1343117709	1322	E>Q		No	ClinGen gnomAD
CA8326687 rs772159137	1323	F>L		No	ClinGen ExAC gnomAD
CA8326686 rs147885770	1324	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1521639 COSM1521640 COSM1521638 rs199687052 CA287275550	1325	V>A	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs144711602 CA8326685	1325	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774689496 CA397388503	1327	H>P		No	ClinGen gnomAD
rs774689496 CA287275543	1327	H>R		No	ClinGen gnomAD
rs1288838258 CA397388483	1330	S>*		No	ClinGen TOPMed
CA8326683 rs749521716	1332	I>M		No	ClinGen ExAC gnomAD
rs1020897098 CA287275499	1333	R>S		No	ClinGen TOPMed
CA397388467 rs1161106446	1333	R>W		No	ClinGen gnomAD
CA397388448 RCV000996462 rs1597393606	1336	V>L		No	ClinGen ClinVar Ensembl dbSNP
RCV001090633 rs1908351072	1338	D>E		No	ClinVar dbSNP
rs1398108018 CA397388431	1338	D>G		No	ClinGen TOPMed
rs1010853454 CA287275481	1340	K>E		No	ClinGen Ensembl
CA287275478 rs1054019727	1340	K>R		No	ClinGen TOPMed
rs756567141 CA8326681	1342	E>D		No	ClinGen ExAC gnomAD
rs1354987616 CA397388394	1343	T>S		No	ClinGen TOPMed
rs1290273696 CA397388392	1344	L>M		No	ClinGen TOPMed
CA397388376 rs1261454751	1346	W>*		No	ClinGen gnomAD
CA287275473 rs201583715	1348	A>S		No	ClinGen Ensembl
CA8326679 rs781601159	1353	G>*		No	ClinGen ExAC gnomAD
rs1480416489 CA397387922	1353	G>E		No	ClinGen gnomAD
rs1421866913 CA397387863	1357	P>S		No	ClinGen gnomAD
rs748522471 CA8326663	1358	A>T		No	ClinGen ExAC gnomAD
rs1314175535 CA397387843	1358	A>V		No	ClinGen TOPMed
rs781721844 CA8326662	1359	T>A		No	ClinGen ExAC gnomAD
CA287274078 rs199928158	1359	T>I		No	ClinGen ExAC TOPMed gnomAD
CA8326661 rs199928158	1359	T>S		No	ClinGen ExAC TOPMed gnomAD
CA8326660 rs747564908	1360	T>A		No	ClinGen ExAC gnomAD
CA397387815 rs779490855	1361	L>M		No	ClinGen ExAC gnomAD
rs750048791 CA8326657	1362	I>T		No	ClinGen ExAC gnomAD
CA8326658 rs548653334	1362	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA287274051 rs1050507981	1363	P>L		No	ClinGen TOPMed
rs1395243781 CA397387790	1363	P>S		No	ClinGen gnomAD
rs202216377 CA287274026	1364	P>L		No	ClinGen Ensembl
CA8326654 rs2137722	1366	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs367981968 CA8326653	1366	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA8326652 rs760467296	1367	I>T		No	ClinGen ExAC gnomAD
CA397387739 rs1235346480	1367	I>V		No	ClinGen TOPMed
rs181358292 CA8326625	1369	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775960305 CA8326624	1371	S>T		No	ClinGen ExAC TOPMed gnomAD
rs925924700 CA287273666	1373	L>V		No	ClinGen TOPMed
CA8326622 rs188604617	1375	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201238497 CA287273665	1376	P>L		No	ClinGen gnomAD
rs1223989759 CA397387501	1377	Q>*		No	ClinGen TOPMed gnomAD
rs1332061695 CA397387490	1377	Q>H		No	ClinGen TOPMed
rs770497368 CA8326620	1378	L>F		No	ClinGen ExAC gnomAD
CA397387472 rs1290522675	1379	L>M		No	ClinGen gnomAD
rs1228653997 CA397387454	1380	H>P		No	ClinGen gnomAD
CA287273639 rs868641158	1386	R>*		No	ClinGen gnomAD
rs777520241 CA8326618	1386	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs755841500 CA8326617	1387	E>V		No	ClinGen ExAC TOPMed gnomAD
CA8326616 rs748024457	1388	Q>*		No	ClinGen ExAC gnomAD
rs539985574 CA8326613	1391	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs202212177 CA8326612	1392	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs201588311 CA397387268	1392	R>L		No	ClinGen ExAC TOPMed gnomAD
rs201588311 CA8326611	1392	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM981590 COSM1589038 CA8326610 rs200352367	1395	S>L	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA8326609 rs202032721	1396	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA397387223 rs1200986452	1396	V>M		No	ClinGen gnomAD
CA287273569 rs200833136	1397	E>D		No	ClinGen TOPMed
CA397387179 rs1267518539	1399	V>A		No	ClinGen TOPMed gnomAD
CA8326608 rs761021425	1400	L>W		No	ClinGen ExAC TOPMed gnomAD
rs1271338402 CA397387130	1403	L>M		No	ClinGen gnomAD
CA8326607 rs775762000	1403	L>P		No	ClinGen ExAC gnomAD
rs767877420 CA397387106	1404	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1438037809 CA397387111	1404	H>R		No	ClinGen TOPMed
CA8326604 rs774952719	1407	V>E		No	ClinGen ExAC gnomAD
rs759983224 CA8326605	1407	V>M		No	ClinGen ExAC TOPMed gnomAD
CA8326602 rs748877010	1414	E>K		No	ClinGen ExAC gnomAD
CA397386897 rs1409106743	1418	A>S		No	ClinGen gnomAD
rs377020538 CA8326600	1418	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs769506154 CA8326599	1419	E>K		No	ClinGen ExAC gnomAD
CA8326596 rs201878224	1420	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA8326598 rs747817334	1420	N>Y		No	ClinGen ExAC TOPMed gnomAD
rs746893493 CA8326595	1421	T>M		No	ClinGen ExAC TOPMed gnomAD
rs368481005 CA397386832	1422	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA397386803 rs1567628592	1424	S>R		No	ClinGen Ensembl
CA287273528 rs376646251	1426	M>R		No	ClinGen ESP TOPMed gnomAD
rs184023870 CA8326591	1427	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1384654 CA8326592 rs754014640	1427	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
CA8326590 rs756268082	1431	S>G		No	ClinGen ExAC gnomAD
rs752934168 CA8326589	1431	S>I		No	ClinGen ExAC TOPMed gnomAD
CA397386704 rs200001042	1431	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA397386692 rs1567628564	1432	L>F		No	ClinGen Ensembl
rs1266807769 CA397386687	1433	S>G		No	ClinGen gnomAD
rs368144465 CA287273514	1434	Q>H		No	ClinGen ESP TOPMed
rs374010584 CA8326587	1435	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA8326586 RCV000591977 rs201167590	1438	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA397386593 rs1225503288	1439	K>R		No	ClinGen TOPMed gnomAD
rs766966104 CA8326585	1442	D>G		No	ClinGen ExAC gnomAD
rs1398068407 CA397386537	1443	G>R		No	ClinGen TOPMed
rs763376368 CA8326584	1444	L>F		No	ClinGen ExAC gnomAD
rs200917086 CA287273486	1446	Q>R		No	ClinGen Ensembl
CA8326582 rs769452970	1451	T>N		No	ClinGen ExAC gnomAD
CA8326581 rs761517839	1452	H>R		No	ClinGen ExAC gnomAD
CA287273481 rs960340837	1453	P>L		No	ClinGen gnomAD
CA287273480 COSM344558 rs201632316	1454	H>Y	lung [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
rs1401886697 CA397386355	1455	L>F		No	ClinGen gnomAD
rs1405128517 CA397386345	1455	L>P		No	ClinGen gnomAD
rs201638843 CA8326579	1457	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8326578 rs746882465	1460	W>L		No	ClinGen ExAC gnomAD
CA397386250 rs1384787628	1461	E>G		No	ClinGen TOPMed
CA287273454 rs200582191	1462	K>*		No	ClinGen TOPMed
CA397386232 rs1245374106	1462	K>R		No	ClinGen gnomAD
rs1220984818 CA397386214	1463	G>D		No	ClinGen gnomAD
CA8326576 rs771975610	1464	S>N		No	ClinGen ExAC gnomAD
CA8326575 rs745804367	1464	S>R		No	ClinGen ExAC gnomAD
CA8326574 rs777777050	1466	K>R		No	ClinGen ExAC gnomAD
rs752885010 CA8326572	1467	G>A		No	ClinGen ExAC gnomAD
CA8326573 rs756213182	1467	G>R		No	ClinGen ExAC TOPMed gnomAD
rs201882873 CA287273408	1468	L>H		No	ClinGen ExAC gnomAD
rs201882873 CA8326569	1468	L>P		No	ClinGen ExAC gnomAD
CA397386114 rs1316605358	1470	P>L		No	ClinGen TOPMed

4 associated diseases with Q9C000

[MIM: 606579]: Vitiligo-associated multiple autoimmune disease 1 (VAMAS1)

A disorder characterized by the association of vitiligo with several autoimmune and autoinflammatory diseases including autoimmune thyroid disease, rheumatoid arthritis and systemic lupus erythematosus. {ECO:0000269|PubMed:17377159}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

[MIM: 615225]: Palmoplantar carcinoma, multiple self-healing (MSPC)

An autosomal dominant disease characterized by keratopathy with neovascularization, bilateral corneal opacification, palmoplantar hyperkeratosis, dyshidrosis, dystrophic nails, and recurrent keratoacanthomas in palmoplantar skin as well as in conjunctival and corneal epithelia. In addition, patients experience a high susceptibility to malignant squamous cell carcinoma. {ECO:0000269|PubMed:23349227, ECO:0000269|PubMed:27662089, ECO:0000269|PubMed:33093214}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 617388]: Autoinflammation with arthritis and dyskeratosis (AIADK)

A disorder characterized by recurrent fever, diffuse skin dyskeratosis, autoinflammation, autoimmunity, arthritis and high transitional B-cell level. Inheritance can be autosomal dominant or autosomal recessive. {ECO:0000269|PubMed:27965258, ECO:0000269|PubMed:30291141, ECO:0000269|PubMed:33731932}. Note=The disease may be caused by variants affecting the gene represented in this entry.

[MIM: 618803]: Respiratory papillomatosis, juvenile recurrent, congenital (JRRP)

An autosomal recessive disease characterized by recurrent growth of papillomas in the respiratory tract, and onset in early childhood. Papillomas are most commonly found in the larynx but may occur anywhere from the mouth to the bronchi. Children typically present within the first years of life with hoarseness or, in more severe cases, respiratory distress or stridor and airway obstruction. JRRP is associated with infection of the upper airway by human papillomaviruses of the alpha genus. The infection is thought to occur by vertical transmission at birth. {ECO:0000269|PubMed:31484767}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Without disease ID

A disorder characterized by the association of vitiligo with several autoimmune and autoinflammatory diseases including autoimmune thyroid disease, rheumatoid arthritis and systemic lupus erythematosus. {ECO:0000269|PubMed:17377159}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
An autosomal dominant disease characterized by keratopathy with neovascularization, bilateral corneal opacification, palmoplantar hyperkeratosis, dyshidrosis, dystrophic nails, and recurrent keratoacanthomas in palmoplantar skin as well as in conjunctival and corneal epithelia. In addition, patients experience a high susceptibility to malignant squamous cell carcinoma. {ECO:0000269|PubMed:23349227, ECO:0000269|PubMed:27662089, ECO:0000269|PubMed:33093214}. Note=The disease is caused by variants affecting the gene represented in this entry.
A disorder characterized by recurrent fever, diffuse skin dyskeratosis, autoinflammation, autoimmunity, arthritis and high transitional B-cell level. Inheritance can be autosomal dominant or autosomal recessive. {ECO:0000269|PubMed:27965258, ECO:0000269|PubMed:30291141, ECO:0000269|PubMed:33731932}. Note=The disease may be caused by variants affecting the gene represented in this entry.
An autosomal recessive disease characterized by recurrent growth of papillomas in the respiratory tract, and onset in early childhood. Papillomas are most commonly found in the larynx but may occur anywhere from the mouth to the bronchi. Children typically present within the first years of life with hoarseness or, in more severe cases, respiratory distress or stridor and airway obstruction. JRRP is associated with infection of the upper airway by human papillomaviruses of the alpha genus. The infection is thought to occur by vertical transmission at birth. {ECO:0000269|PubMed:31484767}. Note=The disease may be caused by variants affecting the gene represented in this entry.

10 regional properties for Q9C000

Type	Name	Position	InterPro Accession
domain	CARD domain	1380 - 1463	IPR001315
repeat	Leucine-rich repeat	809 - 830	IPR001611-1
repeat	Leucine-rich repeat	864 - 886	IPR001611-2
repeat	Leucine-rich repeat	921 - 943	IPR001611-3
domain	DAPIN domain	1 - 92	IPR004020
domain	NACHT nucleoside triphosphatase	328 - 637	IPR007111
domain	FIIND domain	1079 - 1364	IPR025307
domain	CARD8/ASC/NALP1, CARD domain	1380 - 1460	IPR033516
domain	NOD2, winged helix domain	567 - 613	IPR041075
domain	NACHT, LRR and PYD domains-containing protein, helical domain HD2	623 - 733	IPR041267

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytosol Cytoplasm Nucleus	Nucleocytoplasmic distribution in lymphoid organs (probably in T-cells) and in neurons In epithelial cells, predominantly cytoplasmic
PANTHER Family	PTHR46985	NACHT, LRR AND PYD DOMAINS-CONTAINING PROTEIN 1
PANTHER Subfamily	PTHR46985:SF3	NACHT, LRR AND PYD DOMAINS-CONTAINING PROTEIN 1
PANTHER Protein Class	defense/immunity protein
PANTHER Pathway Category	No pathway information available

5 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.
inflammasome complex	A cytosolic protein complex that is capable of activating caspase-1.
NLRP1 inflammasome complex	An inflammasome complex that consists of two components, NLRP1 (NALP1) and caspase-1 or caspase-5. The exact mechanisms of NLRP1 activation remain obscure, but potassium ion efflux appears to be essential.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

10 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity	Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
cysteine-type endopeptidase activator activity	Binds to and increases the activity of a cysteine-type endopeptidase.
cysteine-type endopeptidase activator activity involved in apoptotic process	Binds to and increases the rate of proteolysis catalyzed by a cysteine-type endopeptidase involved in the apoptotic process.
double-stranded DNA binding	Binding to double-stranded DNA.
double-stranded RNA binding	Binding to double-stranded RNA.
enzyme binding	Binding to an enzyme, a protein with catalytic activity.
peptidase activity	Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid.
protein domain specific binding	Binding to a specific domain of a protein.
protein self-association	Binding to a domain within the same polypeptide.

16 GO annotations of biological process

Name	Definition
activation of cysteine-type endopeptidase activity involved in apoptotic process	Any process that initiates the activity of the inactive enzyme cysteine-type endopeptidase in the context of an apoptotic process.
antiviral innate immune response	A defense response against viruses mediated through an innate immune response. An innate immune response is mediated by germline encoded components that directly recognize components of potential pathogens.
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
defense response to bacterium	Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism.
defense response to virus	Reactions triggered in response to the presence of a virus that act to protect the cell or organism.
inflammatory response	The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
neuron apoptotic process	Any apoptotic process in a neuron, the basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system.
NLRP1 inflammasome complex assembly	The aggregation, arrangement and bonding together of a set of components to form a NLRP1 inflammasome complex.
positive regulation of inflammatory response	Any process that activates or increases the frequency, rate or extent of the inflammatory response.
positive regulation of interleukin-1 beta production	Any process that activates or increases the frequency, rate, or extent of interleukin-1 beta production.
protein homooligomerization	The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of identical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer.
pyroptosis	A caspase-1-dependent cell death subroutine that is associated with the generation of pyrogenic mediators such as IL-1beta and IL-18.
regulation of apoptotic process	Any process that modulates the occurrence or rate of cell death by apoptotic process.
regulation of inflammatory response	Any process that modulates the frequency, rate or extent of the inflammatory response, the immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents.
response to muramyl dipeptide	Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a muramyl dipeptide stimulus. Muramyl dipeptide is derived from peptidoglycan.
self proteolysis	The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their own peptide bonds.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9Y2G2	CARD8	Caspase recruitment domain-containing protein 8 [Cleaved into: Caspase recruitment domain-containing protein 8, C-terminus ; Caspase recruitment domain-containing protein 8, N-terminus ]	Homo sapiens (Human)	EV
Q96P20	NLRP3	NACHT, LRR and PYD domains-containing protein 3	Homo sapiens (Human)	EV
P59046	NLRP12	NACHT, LRR and PYD domains-containing protein 12	Homo sapiens (Human)	SS
A1Z198	Nlrp1b	NACHT, LRR and PYD domains-containing protein 1b allele 2	Mus musculus (Mouse)	SS
Q2LKU9	Nlrp1a	NACHT, LRR and PYD domains-containing protein 1a	Mus musculus (Mouse)	SS

10	20	30	40	50	60
MAGGAWGRLA	CYLEFLKKEE	LKEFQLLLAN	KAHSRSSSGE	TPAQPEKTSG	MEVASYLVAQ
70	80	90	100	110	120
YGEQRAWDLA	LHTWEQMGLR	SLCAQAQEGA	GHSPSFPYSP	SEPHLGSPSQ	PTSTAVLMPW
130	140	150	160	170	180
IHELPAGCTQ	GSERRVLRQL	PDTSGRRWRE	ISASLLYQAL	PSSPDHESPS	QESPNAPTST
190	200	210	220	230	240
AVLGSWGSPP	QPSLAPREQE	APGTQWPLDE	TSGIYYTEIR	EREREKSEKG	RPPWAAVVGT
250	260	270	280	290	300
PPQAHTSLQP	HHHPWEPSVR	ESLCSTWPWK	NEDFNQKFTQ	LLLLQRPHPR	SQDPLVKRSW
310	320	330	340	350	360
PDYVEENRGH	LIEIRDLFGP	GLDTQEPRIV	ILQGAAGIGK	STLARQVKEA	WGRGQLYGDR
370	380	390	400	410	420
FQHVFYFSCR	ELAQSKVVSL	AELIGKDGTA	TPAPIRQILS	RPERLLFILD	GVDEPGWVLQ
430	440	450	460	470	480
EPSSELCLHW	SQPQPADALL	GSLLGKTILP	EASFLITART	TALQNLIPSL	EQARWVEVLG
490	500	510	520	530	540
FSESSRKEYF	YRYFTDERQA	IRAFRLVKSN	KELWALCLVP	WVSWLACTCL	MQQMKRKEKL
550	560	570	580	590	600
TLTSKTTTTL	CLHYLAQALQ	AQPLGPQLRD	LCSLAAEGIW	QKKTLFSPDD	LRKHGLDGAI
610	620	630	640	650	660
ISTFLKMGIL	QEHPIPLSYS	FIHLCFQEFF	AAMSYVLEDE	KGRGKHSNCI	IDLEKTLEAY
670	680	690	700	710	720
GIHGLFGAST	TRFLLGLLSD	EGEREMENIF	HCRLSQGRNL	MQWVPSLQLL	LQPHSLESLH
730	740	750	760	770	780
CLYETRNKTF	LTQVMAHFEE	MGMCVETDME	LLVCTFCIKF	SRHVKKLQLI	EGRQHRSTWS
790	800	810	820	830	840
PTMVVLFRWV	PVTDAYWQIL	FSVLKVTRNL	KELDLSGNSL	SHSAVKSLCK	TLRRPRCLLE
850	860	870	880	890	900
TLRLAGCGLT	AEDCKDLAFG	LRANQTLTEL	DLSFNVLTDA	GAKHLCQRLR	QPSCKLQRLQ
910	920	930	940	950	960
LVSCGLTSDC	CQDLASVLSA	SPSLKELDLQ	QNNLDDVGVR	LLCEGLRHPA	CKLIRLGLDQ
970	980	990	1000	1010	1020
TTLSDEMRQE	LRALEQEKPQ	LLIFSRRKPS	VMTPTEGLDT	GEMSNSTSSL	KRQRLGSERA
1030	1040	1050	1060	1070	1080
ASHVAQANLK	LLDVSKIFPI	AEIAEESSPE	VVPVELLCVP	SPASQGDLHT	KPLGTDDDFW
1090	1100	1110	1120	1130	1140
GPTGPVATEV	VDKEKNLYRV	HFPVAGSYRW	PNTGLCFVMR	EAVTVEIEFC	VWDQFLGEIN
1150	1160	1170	1180	1190	1200
PQHSWMVAGP	LLDIKAEPGA	VEAVHLPHFV	ALQGGHVDTS	LFQMAHFKEE	GMLLEKPARV
1210	1220	1230	1240	1250	1260
ELHHIVLENP	SFSPLGVLLK	MIHNALRFIP	VTSVVLLYHR	VHPEEVTFHL	YLIPSDCSIR
1270	1280	1290	1300	1310	1320
KAIDDLEMKF	QFVRIHKPPP	LTPLYMGCRY	TVSGSGSGML	EILPKELELC	YRSPGEDQLF
1330	1340	1350	1360	1370	1380
SEFYVGHLGS	GIRLQVKDKK	DETLVWEALV	KPGDLMPATT	LIPPARIAVP	SPLDAPQLLH
1390	1400	1410	1420	1430	1440
FVDQYREQLI	ARVTSVEVVL	DKLHGQVLSQ	EQYERVLAEN	TRPSQMRKLF	SLSQSWDRKC
1450	1460	1470
KDGLYQALKE	THPHLIMELW	EKGSKKGLLP	LSS