AiPD: Autoinhibited Protein Database

O14727

Gene name	APAF1 (KIAA0413)
Protein name	Apoptotic protease-activating factor 1
Names	APAF-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:317
EC number
Protein Class	APOPTOTIC PROTEASE-ACTIVATING FACTOR 1 (PTHR22845)

Descriptions

Apoptotic protease-activating factor 1 (Apaf-1) is a key player in the mitochondrial pathway of apoptosis and composed of three main domains: the N-terminal caspase recruitment domain (CARD), the nucleotide-binding and oligomerization domain (NOD), and the C-terminal WD40-repeat domain (two b-propellers, WD1 and WD2). The NOD is subdivided into the NB-ARC domain and the helical domain. Apaf-1 forms fully inhibited conformation in the absence of cytochrome c with ADP bound in the nucleotide binding site. The NB-ARC domain is held in place through interactions with the b-propeller WD1 and with the helical domain of the NOD, respectively. The presence of a gamma-phosphate in the nucleotide binding site leads to the formation of a salt bridge between R265 and ATP, which is a prerequisite for subsequent rotation of the NB-ARC domain. Binding of cytochrome c between the b-propellers causes propeller WD1 to swing out of its resting position, thereby releasing the attachment of the NB-ARC domain to the regulatory domain. Rotation of the NB-ARC domain exposes the contact areas for oligomerization and relocates the CARD. Apoptotic oligomerization of open Apaf-1 monomers arranges the flexibly tethered CARDs in the central hub of the apoptosomal wheel, where they bind procaspase-9 molecules for activation of the death cascade.

Autoinhibitory domains (AIDs)

Target domain	130-374 (NB-ARC domain)
Relief mechanism	Ligand binding, Partner binding
Assay	Deletion assay, Mutagenesis experiment, Structural analysis

AID

593-1245 (WD40 repeats)

Target domain

130-374 (NB-ARC domain)

Relief mechanism

Ligand binding (Exchange of ADP for ATP), Partner binding (Binding of cytochrome c)

Assay

Deletion assay, Mutagenesis experiment, Structural analysis

Accessory elements

No accessory elements

References

Bao Q et al. (2007) "Calcium blocks formation of apoptosome by preventing nucleotide exchange in Apaf-1", Molecular cell, 25, 181-92

Shakeri R et al. (2015) "Role of the salt bridge between glutamate 546 and arginine 907 in preservation of autoinhibited form of Apaf-1", International journal of biological macromolecules, 81, 370-4

Autoinhibited structure

Activated structure

14 structures for O14727

Entry ID	Method	Resolution	Chain	Position	Source
1C15	NMR	-	A	1-97	PDB
1CWW	NMR	-	A	1-97	PDB
1CY5	X-ray	130 A	A	1-97	PDB
1Z6T	X-ray	221 A	A/B/C/D	1-591	PDB
2P1H	X-ray	159 A	A	1-92	PDB
2YGS	X-ray	160 A	A	1-92	PDB
3J2T	EM	950 A	A/B/C/D/E/F/G	1-1248	PDB
3JBT	EM	380 A	A/C/E/G/I/K/M	1-1248	PDB
3YGS	X-ray	250 A	C	1-95	PDB
4RHW	X-ray	210 A	A/B/C/D	1-97	PDB
5JUY	EM	410 A	A/B/C/D/E/F/G	1-1248	PDB
5WVC	X-ray	299 A	A/C/E	1-95	PDB
5WVE	EM	440 A			PDB
AF-O14727-F1	Predicted				AlphaFoldDB

936 variants for O14727

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1565850856 RCV000709688	35	L>missing	Neural tube defect [ClinVar]	Yes	ClinVar dbSNP
CA386192044 rs1555218231 RCV000624564	750	R>K	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000623514 rs181546874 CA6734245	795	E>Q	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA386187767 rs1300153351	2	D>N		No	ClinGen TOPMed
CA386187778 rs1216860579	3	A>T		No	ClinGen gnomAD
CA386187800 rs1593011438	5	A>G		No	ClinGen Ensembl
rs776606994 CA6733610	6	R>G		No	ClinGen ExAC gnomAD
rs745436384 CA242274750	6	R>L		No	ClinGen Ensembl
COSM3813291	6	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs765077795 CA386187816	8	C>F		No	ClinGen ExAC gnomAD
CA6733611 rs761730145	8	C>R		No	ClinGen ExAC gnomAD
rs765077795 CA6733612	8	C>Y		No	ClinGen ExAC gnomAD
CA242274761 rs1019334573	12	H>L		No	ClinGen Ensembl
CA242274774 rs966090697	13	R>G		No	ClinGen gnomAD
CA6733613 rs373035647	13	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1250804010 CA386187856	14	E>G		No	ClinGen gnomAD
CA386187900 rs1363526414	20	I>M		No	ClinGen gnomAD
CA6733615 rs368174559	20	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA242274788 rs868444063	21	K>E		No	ClinGen Ensembl
rs1016681790 CA242274795	23	S>C		No	ClinGen TOPMed
rs751071524 CA6733616	23	S>P		No	ClinGen ExAC gnomAD
rs150457288 CA6733617	24	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA386187919 rs1254715652	24	Y>H		No	ClinGen gnomAD
CA6733619 rs753165073	26	M>V		No	ClinGen ExAC TOPMed gnomAD
CA386187969 rs1323939935	30	I>T		No	ClinGen gnomAD
CA6733620 rs756482718	31	S>N		No	ClinGen ExAC TOPMed gnomAD
CA6733621 rs756482718	31	S>T		No	ClinGen ExAC TOPMed gnomAD
rs778908657 CA6733624	33	G>A		No	ClinGen ExAC TOPMed gnomAD
rs778908657 CA386187988	33	G>E		No	ClinGen ExAC TOPMed gnomAD
CA6733623 rs771167842	33	G>R		No	ClinGen ExAC gnomAD
rs1427063067 CA386188003	35	L>F		No	ClinGen Ensembl
CA386188006 rs1269887018	36	T>A		No	ClinGen gnomAD
rs372259373 CA6733626	37	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1270717462 CA386188017	38	S>T		No	ClinGen gnomAD
rs776731061 CA6733627	39	E>A		No	ClinGen ExAC gnomAD
CA386188039 rs1268751626	41	E>K		No	ClinGen TOPMed
CA386188052 rs1209995584	42	K>N		No	ClinGen gnomAD
CA386188063 rs1417655916	44	R>T		No	ClinGen gnomAD
rs145226502 CA6733628	45	N>S		No	ClinGen 1000Genomes ExAC TOPMed
CA6733629 rs199944569	46	E>K		No	ClinGen 1000Genomes ExAC
CA386188095 rs1239771247	47	P>S		No	ClinGen gnomAD
COSM6138715	50	Q>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA6733651 rs770595178	51	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA386188144 rs1186070944	54	A>V		No	ClinGen gnomAD
rs1259676865 CA386188152	55	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs781466059 CA242274962	55	M>V		No	ClinGen Ensembl
CA242274968 rs915308331	58	K>E		No	ClinGen TOPMed gnomAD
COSM944885	59	M>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs889297282 CA242274973	59	M>V		No	ClinGen TOPMed gnomAD
rs200621810 CA6733653	60	I>M		No	ClinGen ExAC TOPMed gnomAD
CA6733652 rs774078486	60	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1008033306 CA242274993	60	I>V		No	ClinGen Ensembl
rs1448656182 CA386188227	63	K>N		No	ClinGen gnomAD
CA242275004 rs966408324	65	N>I		No	ClinGen gnomAD
CA386188251 rs966408324	65	N>S		No	ClinGen gnomAD
CA6733654 rs767077671	67	S>Y		No	ClinGen ExAC gnomAD
CA386188291 rs1297807608	68	Y>C		No	ClinGen gnomAD
CA386188293 rs1297807608	68	Y>S		No	ClinGen gnomAD
CA242275035 rs745962333	69	V>I		No	ClinGen gnomAD
CA386188302 rs745962333	69	V>L		No	ClinGen gnomAD
CA242275058 rs373040331	72	Y>*		No	ClinGen ESP ExAC gnomAD
CA6733659 rs757661181	73	N>H		No	ClinGen ExAC gnomAD
rs1225484862 CA386188358	73	N>S		No	ClinGen TOPMed gnomAD
CA386188377 rs1466271656	75	L>V		No	ClinGen gnomAD
rs376597105 CA6733661	76	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA386188395 rs1189314792	77	H>N		No	ClinGen gnomAD
rs561566651 CA6733663	77	H>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1414974149 CA386188430 COSM696226	79	G>V	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs756164693 CA6733665	81	K>E		No	ClinGen ExAC gnomAD
CA386188473 rs1320603249	82	D>E		No	ClinGen gnomAD
CA6733666 rs777800292	82	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM432038	83	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs749134752 CA6733667	84	A>S		No	ClinGen ExAC TOPMed gnomAD
CA242275127 rs978576647	86	L>F		No	ClinGen Ensembl
CA242275132 rs925746508	88	H>D		No	ClinGen TOPMed
CA386188551 rs1433835580	89	D>V		No	ClinGen gnomAD
rs1276979489 CA386188561	90	G>D		No	ClinGen gnomAD
CA6733670 rs139951279	91	I>F		No	ClinGen ESP ExAC gnomAD
rs139951279 CA6733669	91	I>L		No	ClinGen ESP ExAC gnomAD
rs139951279 CA386188569	91	I>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA6733671 rs141352935	92	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	94	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs150823984 COSM4822807 CA6733673	96	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
CA242275149 rs941494231	98	S>G		No	ClinGen TOPMed
TCGA novel	99	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1249831203 CA386188690	100	K>R		No	ClinGen TOPMed
CA386188702 rs1272614161	101	D>N		No	ClinGen gnomAD
COSM4045591	102	S>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA386188802 rs1189918216	105	G>A		No	ClinGen TOPMed
CA242275154 rs917012585	107	T>A		No	ClinGen TOPMed gnomAD
CA6733674 rs768104025	108	S>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	109	Y>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs993896526 CA242275171	109	Y>C		No	ClinGen TOPMed gnomAD
TCGA novel	111	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1166292661 CA386189164	112	T>A		No	ClinGen TOPMed gnomAD
CA386189174 rs1381680519	113	V>A		No	ClinGen TOPMed
CA6733712 rs780803533	115	C>F		No	ClinGen ExAC gnomAD
TCGA novel	120	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	120	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1416640980 CA386189221	121	Q>*		No	ClinGen gnomAD
CA6733713 rs150005477	122	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA386189243 rs1334942986	124	V>A		No	ClinGen TOPMed gnomAD
rs147700706 CA6733715	128	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6733714 rs769311146	128	T>S		No	ClinGen ExAC gnomAD
CA6733716 rs749757628	129	R>G		No	ClinGen ExAC
CA386189299 rs1366166319	133	V>E		No	ClinGen gnomAD
rs771430171 CA6733717	135	A>T		No	ClinGen ExAC gnomAD
CA6733718 rs774840943	135	A>V		No	ClinGen ExAC gnomAD
CA6733719 rs759884217	137	Q>*		No	ClinGen ExAC gnomAD
CA386189324 rs1565851816	137	Q>R		No	ClinGen Ensembl
rs1387312393 CA386189330	138	Q>*		No	ClinGen TOPMed
rs767600058 CA6733720	142	K>R		No	ClinGen ExAC gnomAD
rs200533513 CA6733721	144	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs985473565 CA242275516	145	G>V		No	ClinGen TOPMed
COSM69683	146	E>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs760691992 CA6733722	147	P>T		No	ClinGen ExAC gnomAD
TCGA novel	149	W>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1449689942 CA386189426	152	I>T		No	ClinGen gnomAD
rs377171914 CA6733723	153	H>R		No	ClinGen ESP ExAC gnomAD
rs1376222776 CA386189436	154	G>R		No	ClinGen gnomAD
CA386189466 rs1173629827	158	C>Y		No	ClinGen gnomAD
CA242275548 rs76680641	160	K>E		No	ClinGen Ensembl
rs766220748 CA6733726	162	V>I		No	ClinGen ExAC TOPMed gnomAD
rs766220748 CA6733727	162	V>L		No	ClinGen ExAC TOPMed gnomAD
CA6733728 rs754700839	166	E>G		No	ClinGen ExAC TOPMed gnomAD
CA386189513 rs1211159304	166	E>K		No	ClinGen TOPMed
rs113035658 CA6733729	167	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA242275558 rs144787055	170	D>E		No	ClinGen ESP TOPMed gnomAD
COSM944886	170	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1128437	171	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs147932236 CA6733730	172	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1235361025 CA386189560	173	L>F		No	ClinGen TOPMed gnomAD
CA6733749 rs755789982	180	G>R		No	ClinGen ExAC gnomAD
CA242238297 rs865933949	181	G>E		No	ClinGen TOPMed
rs1388767708 CA386183645	181	G>R		No	ClinGen TOPMed
rs200830441 CA6733751	183	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6733754 rs746326392	187	V>A		No	ClinGen ExAC gnomAD
CA6733753 rs370928764	187	V>F		No	ClinGen ESP ExAC gnomAD
rs370928764 CA6733752	187	V>L		No	ClinGen ESP ExAC gnomAD
TCGA novel	189	K>N	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
COSM944887	192	K>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1370484839 CA386183721	192	K>I		No	ClinGen gnomAD
rs1370484839 CA386183720	192	K>R		No	ClinGen gnomAD
CA386183722 rs1370484839 COSM944888	192	K>T	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
CA386183736 rs1477170972	194	G>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA6733759 rs768844558	197	M>T		No	ClinGen ExAC gnomAD
CA242238381 rs573202813	198	K>R		No	ClinGen Ensembl
COSM4662308	200	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA6733760 rs374500915	201	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1366413214 CA386183781	201	N>K		No	ClinGen gnomAD
CA386183785 rs1426727139	202	L>V		No	ClinGen gnomAD
rs1292010768 CA386183802	204	T>I		No	ClinGen gnomAD
CA386183804 rs1309940307 COSM944889	205	R>Q	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs769817820 CA6733762	205	R>W		No	ClinGen ExAC TOPMed gnomAD
COSM3466778	208	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs759455114 CA242238411	208	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA6733764 rs759455114	208	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1274413198 CA386183833	209	D>V		No	ClinGen gnomAD
rs767285611 CA6733765	211	S>C		No	ClinGen ExAC gnomAD
rs1199843033 CA386183863	213	S>C		No	ClinGen TOPMed
rs1207717759 CA386183878	215	R>S		No	ClinGen gnomAD
rs752512193 CA6733766	216	L>P		No	ClinGen ExAC gnomAD
CA6733769 rs753489861	218	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1309746107 CA386183905	220	I>V		No	ClinGen TOPMed gnomAD
CA6733771 rs778498609	223	A>D		No	ClinGen ExAC gnomAD
rs778498609 CA386183930	223	A>G		No	ClinGen ExAC gnomAD
CA386183929 rs1188121391	223	A>S		No	ClinGen TOPMed gnomAD
CA386183933 rs1427636277	224	K>E		No	ClinGen gnomAD
CA6733773 rs758924156	225	D>Y		No	ClinGen ExAC gnomAD
CA386183947 rs1465434660 COSM3688509	226	R>C	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
CA6733774 rs780332778	226	R>H		No	ClinGen ExAC gnomAD
rs747369160 COSM944890 CA6733775	228	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1452948462 CA386183962	228	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA386183964 rs1296482581	229	I>V		No	ClinGen gnomAD
CA6733776 rs768971192	233	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs141157255 CA6733777	233	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA242238546 rs951830657	234	K>N		No	ClinGen TOPMed
rs1593029265 CA386183994	234	K>Q		No	ClinGen Ensembl
CA6733778 rs748315424	234	K>R		No	ClinGen ExAC TOPMed gnomAD
CA242238551 rs773148827	235	H>R		No	ClinGen Ensembl
CA6733779 rs368744142	235	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA6733802 rs756319379	237	R>S		No	ClinGen ExAC gnomAD
rs537644742 CA242241223	239	L>V		No	ClinGen 1000Genomes TOPMed gnomAD
rs1248641437 CA386184484	242	L>S		No	ClinGen TOPMed
COSM4894202	244	D>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA386184521 rs1318514424	245	V>L		No	ClinGen gnomAD
CA6733805 rs770864896	248	S>C		No	ClinGen ExAC gnomAD
rs770864896 CA386184587	248	S>F		No	ClinGen ExAC gnomAD
CA6733806 rs775507125	249	W>S		No	ClinGen ExAC gnomAD
rs1162889828 CA386184653	253	A>V		No	ClinGen TOPMed gnomAD
CA6733808 rs746875464	258	C>S		No	ClinGen ExAC TOPMed gnomAD
CA6733809 rs768637465	258	C>Y		No	ClinGen ExAC gnomAD
rs1593034505 CA386184747	259	Q>R		No	ClinGen Ensembl
CA386184753 rs1224389708	260	I>V		No	ClinGen gnomAD
rs145270473 CA6733810	261	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA386184771 rs145270473	261	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA242241280 rs950176672	263	T>K		No	ClinGen TOPMed
rs1320141890 CA386184796	264	T>I		No	ClinGen gnomAD
CA242241299 rs773664804	264	T>P		No	ClinGen Ensembl
rs1299014329 CA386184798	265	R>*		No	ClinGen TOPMed
COSM278895	266	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA386184815 rs1434407100	267	K>R		No	ClinGen TOPMed
rs199783677 CA6733811	269	V>I		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	270	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA386184865 rs1270700267	274	M>T		No	ClinGen gnomAD
rs1385450553 CA386185178	276	P>L		No	ClinGen TOPMed gnomAD
rs1429561405 CA386185186	277	K>N		No	ClinGen TOPMed gnomAD
rs1565861409 CA386185184	277	K>T		No	ClinGen Ensembl
CA242241533 rs898651129	278	Y>F		No	ClinGen TOPMed gnomAD
TCGA novel	282	V>C	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1410958872 CA386185230	284	S>T		No	ClinGen gnomAD
CA386185243 rs1228272710	286	L>S		No	ClinGen TOPMed
CA242241557 rs144728788	287	G>R		No	ClinGen ESP TOPMed
rs138616141 CA386185257	288	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA6733834 rs760089515	288	K>R		No	ClinGen ExAC gnomAD
CA386185273 rs1316056871	290	K>N		No	ClinGen gnomAD
rs753148886 CA6733836	291	G>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	291	G>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
CA386185282 rs1227479916	292	L>F		No	ClinGen gnomAD
rs1046826037 CA242241577	293	E>Q		No	ClinGen TOPMed gnomAD
CA386185299 rs1228957932	294	I>M		No	ClinGen gnomAD
rs1392873920 CA386185306	295	L>F		No	ClinGen TOPMed
rs1321851268 CA386185301	295	L>V		No	ClinGen TOPMed
TCGA novel	297	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA6733838 rs201562861	300	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA6733839 rs769974597	301	M>K		No	ClinGen ExAC TOPMed gnomAD
CA386185357 rs1440244009	303	K>E		No	ClinGen gnomAD
TCGA novel	304	A>Q	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
CA6733840 rs149321598	304	A>T		No	ClinGen ESP ExAC gnomAD
CA6733841 rs189237320	304	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1375077279 CA386185379	306	L>S		No	ClinGen gnomAD
rs1476046923 CA386185396	308	E>D		No	ClinGen gnomAD
CA6733843 rs750499402	309	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA6733844 rs192898520	313	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM696225	315	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3738620	316	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1483201943 CA386185473	316	E>Q		No	ClinGen TOPMed
rs369909924 CA242241651	316	E>V		No	ClinGen gnomAD
CA6733847 rs769637846	318	K>N		No	ClinGen ExAC gnomAD
rs777675629 CA6733871	319	G>A		No	ClinGen ExAC gnomAD
rs777675629 CA386186388	319	G>D		No	ClinGen ExAC gnomAD
CA386186401 rs1209681193	320	S>F		No	ClinGen gnomAD
rs749009060 CA6733872	321	P>H		No	ClinGen ExAC gnomAD
CA6733874 rs778546488	324	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1045431523 CA242243994	325	S>C		No	ClinGen Ensembl
CA6733876 rs771635032	327	I>V		No	ClinGen ExAC gnomAD
rs995869705 CA242243999	329	A>T		No	ClinGen TOPMed
rs1162432784 CA386186536	332	R>C		No	ClinGen gnomAD
CA386186537 rs769012939	332	R>H		No	ClinGen ExAC TOPMed gnomAD
rs769012939 CA6733879	332	R>L		No	ClinGen ExAC TOPMed gnomAD
rs765641337 CA6733882	336	N>S		No	ClinGen ExAC TOPMed gnomAD
rs765641337 CA386186564	336	N>T		No	ClinGen ExAC TOPMed gnomAD
CA6733883 rs773574010	337	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM3417305 CA242244053 rs1006261171	337	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed
CA386186584 rs1407535320	339	E>A		No	ClinGen TOPMed gnomAD
rs1308504401 CA386186589	340	Y>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs906541967 CA242244068	341	Y>C		No	ClinGen Ensembl
CA6733884 rs763265874	347	N>D		No	ClinGen ExAC TOPMed gnomAD
rs766627138 CA6733885	349	Q>H		No	ClinGen ExAC gnomAD
rs1223644343 CA386186668	350	F>L		No	ClinGen gnomAD
COSM944891	352	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA6733887 rs756120322	353	I>V		No	ClinGen ExAC gnomAD
rs763974517 CA6733888	355	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1227317636 CA386186708	356	S>F		No	ClinGen TOPMed
rs753747121 CA6733889	357	S>L		No	ClinGen ExAC gnomAD
rs758021604 CA386186734	360	D>G		No	ClinGen ExAC gnomAD
CA6733893 rs758021604	360	D>V		No	ClinGen ExAC gnomAD
CA242244207 rs980221719	361	Y>*		No	ClinGen TOPMed
rs779653660 CA6733894	361	Y>N		No	ClinGen ExAC gnomAD
rs1369939464 CA386186758	364	L>V		No	ClinGen gnomAD
rs201932795 CA6733895	365	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	369	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA6733897 rs768162508	370	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1264896516 CA386186806	371	S>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs748600489 CA6733899	374	M>T		No	ClinGen ExAC gnomAD
rs141824871 CA242244237	376	R>G		No	ClinGen ESP gnomAD
CA6733900 rs770350894	376	R>T		No	ClinGen ExAC gnomAD
TCGA novel	377	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs773700554 CA6733901	377	E>Q		No	ClinGen ExAC gnomAD
CA242244243 rs201629052	378	D>A		No	ClinGen 1000Genomes ExAC gnomAD
rs201629052 CA6733902	378	D>G		No	ClinGen 1000Genomes ExAC gnomAD
COSM944892	378	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	381	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1251992214 CA386186883	382	Y>D		No	ClinGen gnomAD
rs927344084 CA242244246	382	Y>S		No	ClinGen TOPMed gnomAD
CA6733903 rs766680485	384	T>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	384	T>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1245274488 CA386186899	384	T>R		No	ClinGen gnomAD
rs1164373366 CA386186903	385	D>N		No	ClinGen TOPMed
CA386186911 rs1445453802	386	L>F		No	ClinGen gnomAD
rs1310426717 CA386186920	387	S>C		No	ClinGen TOPMed gnomAD
TCGA novel	387	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1389249015 CA386186938	390	Q>R		No	ClinGen gnomAD
rs570250043 CA6733906	393	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1172506101 CA386186967	394	K>R		No	ClinGen gnomAD
CA386186978 rs1261022174	396	P>A		No	ClinGen TOPMed gnomAD
rs1261022174 CA386186979	396	P>S		No	ClinGen TOPMed gnomAD
rs753782480 CA6733908	397	T>A		No	ClinGen ExAC gnomAD
CA6733933 rs371118366	401	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6733935 rs766131635	402	I>F		No	ClinGen ExAC gnomAD
CA6733934 rs766131635	402	I>V		No	ClinGen ExAC gnomAD
rs1421932898 CA386187036	403	L>P		No	ClinGen gnomAD
rs867926766 CA242244630	405	D>N		No	ClinGen Ensembl
CA242244650 rs941756431	406	M>I		No	ClinGen TOPMed
rs1295941185 CA386187064	407	E>Q		No	ClinGen TOPMed gnomAD
rs754647777 CA6733936	408	T>A		No	ClinGen ExAC gnomAD
CA6733937 rs780618856	410	E>K		No	ClinGen ExAC gnomAD
CA386187083 rs780618856	410	E>Q		No	ClinGen ExAC gnomAD
COSM3466779	411	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel CA386187098 rs1593040276	412	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
rs752227133 CA6733938	413	D>Y		No	ClinGen ExAC gnomAD
CA6733939 rs755648185	414	I>T		No	ClinGen ExAC gnomAD
rs1593040289 CA386187112	414	I>V		No	ClinGen Ensembl
COSM944893	417	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA386187143 rs1444871075	418	F>S		No	ClinGen TOPMed
rs771263499 CA6733942	420	N>D		No	ClinGen ExAC gnomAD
CA6733943 rs140772800	420	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3872755	422	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	423	L>F	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
COSM5078964	424	L>I	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA386187225 rs1482550096	426	C>G		No	ClinGen TOPMed
CA386187251 rs1263053370	428	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	428	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA386187256 rs1180826003	429	N>H		No	ClinGen gnomAD
rs552032520 CA6733944	430	G>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	432	S>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA6733946 rs775647653	432	S>L		No	ClinGen ExAC gnomAD
rs775647653 CA6733947	432	S>W		No	ClinGen ExAC gnomAD
CA6733950 rs773139246	433	F>L		No	ClinGen ExAC gnomAD
rs368429786 CA6733951	434	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201872620 CA6733952 COSM278896	434	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs759154322 CA6733953	436	Y>F		No	ClinGen ExAC gnomAD
rs1409349806 CA386187365	436	Y>H		No	ClinGen gnomAD
rs767233730 CA6733954	438	H>R		No	ClinGen ExAC TOPMed gnomAD
rs752354073 CA6733955	439	D>G		No	ClinGen ExAC gnomAD
CA386187431 rs1394117838	440	L>P		No	ClinGen TOPMed
CA6733957 rs144721573	443	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA6733958 RCV000969079 rs75622772	446	T>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1180490017 CA386187528	447	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1022878589 CA242244782	449	N>T		No	ClinGen TOPMed
rs139378273 CA6733959	450	C>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA6733962 rs371633206	453	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
COSM4929243	453	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs780260260 CA6733963	454	Q>*		No	ClinGen ExAC gnomAD
CA6733964 rs150056794	454	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs755160411 CA6733984	458	K>E		No	ClinGen ExAC gnomAD
rs1475413327 CA386188253	458	K>N		No	ClinGen TOPMed
rs1454723746 CA386188292	461	I>F		No	ClinGen gnomAD
CA386188310 rs1338493851	462	T>I		No	ClinGen gnomAD
TCGA novel	465	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs76732147 CA6733986	465	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs913728516 CA386188370	466	R>S		No	ClinGen TOPMed gnomAD
CA6733987 rs553425177	467	Y>D		No	ClinGen 1000Genomes ExAC gnomAD
CA386188397 rs774346140	468	H>P		No	ClinGen ExAC gnomAD
CA6733988 rs774346140	468	H>R		No	ClinGen ExAC gnomAD
CA386188416 rs1261895310	469	Q>H		No	ClinGen gnomAD
rs145393515 CA6733989	470	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs979627151 CA242246268	472	T>A		No	ClinGen Ensembl
CA6733990 rs369544125	475	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA386188496 rs1446824707	476	D>H		No	ClinGen gnomAD
rs1038164796 CA242246325	477	Q>R		No	ClinGen TOPMed
rs775397727 CA6733991	478	E>K		No	ClinGen ExAC gnomAD
rs149223130 CA386188552 CA6733993	479	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1365082 CA6733992 rs373209321	479	D>G	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA6733995 rs563990765	481	M>K		No	ClinGen 1000Genomes ExAC gnomAD
rs776110169 CA6733994	481	M>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	482	Y>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM696224	485	N>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs750996873 CA6733997	488	A>T		No	ClinGen ExAC gnomAD
CA242246378 rs1056152480	489	Y>C		No	ClinGen TOPMed gnomAD
CA386188765 rs1565865083	491	M>I		No	ClinGen Ensembl
CA386188758 rs1320859195	491	M>K		No	ClinGen gnomAD
rs758901927 CA6733998	491	M>V		No	ClinGen ExAC gnomAD
CA6733999 rs747796064	492	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	492	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA386188793 rs1349490636	493	S>N		No	ClinGen gnomAD
rs143963802 CA6734000	494	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed
rs906775719 CA242246399	495	K>E		No	ClinGen TOPMed
CA6734001 rs755284995	496	M>V		No	ClinGen ExAC TOPMed gnomAD
CA6734002 rs781420888	497	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	498	K>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM944895	502	A>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA6734018 rs759895384	502	A>V		No	ClinGen ExAC TOPMed gnomAD
rs753017289 CA6734020	504	M>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	507	L>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1363656906 CA386189682	511	K>R		No	ClinGen TOPMed gnomAD
CA6734021 rs756263592	512	A>T		No	ClinGen ExAC gnomAD
COSM274001	513	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA386189730 rs1336415243	518	G>V		No	ClinGen TOPMed
CA242248992 rs544766657	519	P>S		No	ClinGen gnomAD
rs1396327023 CA386189738	520	A>P		No	ClinGen TOPMed
rs146424586 CA6734025	521	H>R		No	ClinGen ESP ExAC gnomAD
CA6734024 rs757373827	521	H>Y		No	ClinGen ExAC
TCGA novel	525	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1170726364 CA386189777	526	F>I		No	ClinGen TOPMed
CA6734026 rs746887648	529	Y>C		No	ClinGen ExAC gnomAD
rs780845725 CA6734028	530	R>K		No	ClinGen ExAC gnomAD
CA6734030 rs769307688	531	H>R		No	ClinGen ExAC gnomAD
CA242249013 rs977189648	532	I>T		No	ClinGen Ensembl
rs955423331 CA242249012	532	I>V		No	ClinGen TOPMed gnomAD
rs772870332 CA6734031	533	L>Q		No	ClinGen ExAC gnomAD
rs762479508 CA6734032	534	D>G		No	ClinGen ExAC gnomAD
TCGA novel	535	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA386189835 rs1565866982	535	E>K		No	ClinGen Ensembl
TCGA novel	537	D>G	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
CA6734052 rs777293241	538	C>R		No	ClinGen ExAC TOPMed gnomAD
rs748879722 CA6734053	538	C>S		No	ClinGen ExAC gnomAD
rs1261028134 CA386189885	540	V>F		No	ClinGen gnomAD
CA386189883 rs1261028134	540	V>I		No	ClinGen gnomAD
rs921384110 CA242249552	541	S>T		No	ClinGen TOPMed gnomAD
CA386189896 rs1171939618	542	E>K		No	ClinGen gnomAD
rs372400613 CA6734054	544	F>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs969747561 CA242249564	545	Q>*		No	ClinGen Ensembl
CA242249598 rs567830028	546	E>*		No	ClinGen Ensembl
rs376175905 CA6734055	547	F>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs746426956 CA6734056	548	L>*		No	ClinGen ExAC gnomAD
TCGA novel	548	L>Y	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
CA386189948 rs1407835062	549	S>P		No	ClinGen gnomAD
COSM268673	552	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA386189975 rs1593047221	553	H>P		No	ClinGen Ensembl
CA6734057 rs772482875	553	H>Y		No	ClinGen ExAC gnomAD
rs776028107 CA6734058	555	L>P		No	ClinGen ExAC TOPMed gnomAD
CA6734059 rs760954769	556	G>R		No	ClinGen ExAC TOPMed gnomAD
CA6734060 rs764463198	557	R>*		No	ClinGen ExAC TOPMed gnomAD
rs1221735162 CA386189997	557	R>Q		No	ClinGen gnomAD
rs1265305842 CA386190007	558	Q>H		No	ClinGen gnomAD
CA242249639 rs202243082	559	P>T		No	ClinGen Ensembl
rs777052879 CA386190020	560	F>L		No	ClinGen ExAC gnomAD
rs1188259366 CA386190025	561	P>R		No	ClinGen gnomAD
rs1484864510 CA386190021	561	P>T		No	ClinGen gnomAD
rs762122714 CA6734062	562	N>D		No	ClinGen ExAC TOPMed gnomAD
CA386190030 rs1401863373	562	N>S		No	ClinGen gnomAD
CA386190041 rs1196625693	564	V>I		No	ClinGen gnomAD
rs1335438800 CA386190047	565	Q>*		No	ClinGen TOPMed
CA386190052 rs1343756322	565	Q>H		No	ClinGen TOPMed gnomAD
CA6734065 rs758454889	565	Q>R		No	ClinGen ExAC gnomAD
rs983997538 CA242249655	566	L>M		No	ClinGen Ensembl
rs767385385 CA6734066	569	C>Y		No	ClinGen ExAC gnomAD
rs752612461 CA6734067 COSM304642	571	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA386190096 rs1472965121	572	E>D		No	ClinGen TOPMed
rs1285208826 COSM1365083 CA386190131	577	Y>*	large_intestine Variant assessed as Somatic; HIGH impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated TOPMed gnomAD NCI-TCGA Cosmic
CA386190129 rs1411422739	577	Y>C		No	ClinGen TOPMed
rs11613534 CA242249679	580	A>D		No	ClinGen Ensembl
rs1484102400 CA386190177	584	A>S		No	ClinGen TOPMed
rs199975148 CA6734073 COSM1638096	585	K>R	bone [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC
CA242249720 rs939965305	586	Q>E		No	ClinGen TOPMed gnomAD
rs1490148284 CA386190212	589	D>G		No	ClinGen gnomAD
CA6734076 rs745404599	589	D>N		No	ClinGen ExAC gnomAD
CA242249748 rs900501912	590	N>D		No	ClinGen Ensembl
CA386190239 rs1459892805	593	L>V		No	ClinGen TOPMed
CA386190248 rs61758870	594	Y>C		No	ClinGen ExAC gnomAD
CA6734078 rs61758870	594	Y>F		No	ClinGen ExAC gnomAD
CA386190257 rs1478166133	596	E>K		No	ClinGen gnomAD
CA6734080 rs768970288	598	I>L		No	ClinGen ExAC gnomAD
CA386190599 rs1285958255	599	N>T		No	ClinGen gnomAD
rs924831760 CA242254655	600	K>N		No	ClinGen Ensembl
CA386190624 rs1565870589	602	N>I		No	ClinGen Ensembl
COSM2047232 rs758129366	602	N>K	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
COSM1365084 rs758129366	602	N>T	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs1356953024 CA386190629	603	I>F		No	ClinGen gnomAD
rs1593054566 CA386190632	603	I>T		No	ClinGen Ensembl
CA6734103 rs771761157	604	T>M		No	ClinGen ExAC TOPMed gnomAD
CA242254680 rs916104396	608	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA6734105 rs554955493	608	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA386190672 rs1242106810	610	V>L		No	ClinGen gnomAD
rs371897242 CA6734107	612	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA6734108 rs375182344	612	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	613	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1166261150 CA386190691	613	P>R		No	ClinGen gnomAD
CA386190703 rs1421676580	615	T>S		No	ClinGen gnomAD
rs61758871 CA242254700	619	Y>S		No	ClinGen Ensembl
CA386190738 rs1176032182	620	H>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1404180192 CA386190745	621	A>D		No	ClinGen gnomAD
rs1404180192 CA386190746	621	A>G		No	ClinGen gnomAD
CA386190768 rs1429891882	624	S>C		No	ClinGen TOPMed gnomAD
CA6734110 RCV000884070 rs73142307	625	E>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA386190773 rs73142307	625	E>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753712744 CA6734112	626	D>N		No	ClinGen ExAC TOPMed gnomAD
COSM1283445	627	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1312856356 CA386190784	627	G>S		No	ClinGen TOPMed
CA386190791 rs1262178451	628	Q>*		No	ClinGen gnomAD
rs907304304 CA242254724	628	Q>R		No	ClinGen Ensembl
TCGA novel	629	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1320897192 CA386190799	629	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA386190810 rs1202548008	630	I>M		No	ClinGen gnomAD
CA386190811 rs1387174506	631	A>T		No	ClinGen TOPMed
CA6734113 rs761612379	632	S>F		No	ClinGen ExAC TOPMed gnomAD
rs765006856 COSM3872756 CA386190870	639	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs140327382 CA6734115	640	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6734132 rs761736799	642	F>S		No	ClinGen ExAC
TCGA novel	644	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs765058180 CA6734133	644	A>V		No	ClinGen ExAC gnomAD
CA6734134 rs773038605	646	T>I		No	ClinGen ExAC gnomAD
COSM944898	647	G>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA386191055 rs1205407334	648	E>Q		No	ClinGen TOPMed
CA386191070 rs1387975195	649	K>E		No	ClinGen gnomAD
rs995082570 CA242257477	651	L>V		No	ClinGen TOPMed gnomAD
rs1334793867 CA386191142	654	K>M		No	ClinGen gnomAD
rs762608144 CA6734135	655	A>G		No	ClinGen ExAC TOPMed gnomAD
rs762608144 CA386191159	655	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1311834024 COSM3813296 CA386191165	656	H>Y	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs1355090223 CA386191202	658	D>G		No	ClinGen TOPMed gnomAD
rs1355090223 CA386191203	658	D>V		No	ClinGen TOPMed gnomAD
COSM1477023	659	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA6734136 rs545873173	662	C>F		No	ClinGen 1000Genomes ExAC gnomAD
CA6734137 rs751106475	663	C>*		No	ClinGen ExAC gnomAD
CA386191289 rs1210494090	665	F>L		No	ClinGen gnomAD
COSM1477024	666	S>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs753320288 CA6734140	668	D>V		No	ClinGen ExAC gnomAD
rs1343656146 CA386191341	669	D>N		No	ClinGen TOPMed
CA6734141 rs756655231	669	D>V		No	ClinGen ExAC TOPMed gnomAD
rs914658027 CA242257500	670	R>K		No	ClinGen TOPMed gnomAD
CA6734142 COSM550295 rs778044060	672	I>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1192389390 CA386191393	673	A>T		No	ClinGen TOPMed gnomAD
CA386191407 rs1429896032	674	T>A		No	ClinGen gnomAD
rs757500870 CA6734144	677	V>L		No	ClinGen ExAC TOPMed gnomAD
rs757500870 CA386191447	677	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1163276261 CA386191480	679	K>R		No	ClinGen TOPMed gnomAD
CA242257509 rs988423435	680	K>N		No	ClinGen TOPMed gnomAD
COSM944899	680	K>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA242259583 rs200295459	683	I>V		No	ClinGen Ensembl
rs764355213 CA242259599	685	N>S		No	ClinGen TOPMed gnomAD
CA6734162 rs757702293	686	S>T		No	ClinGen ExAC gnomAD
COSM3813297	686	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA6734163 rs779144426	687	M>V		No	ClinGen ExAC TOPMed gnomAD
CA386191615 rs1214032614	689	G>E		No	ClinGen TOPMed
rs780203359 CA6734166	690	E>D		No	ClinGen ExAC gnomAD
COSM6138714	690	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA6734165 rs758597432	690	E>Q		No	ClinGen ExAC gnomAD
CA386191625 rs1331761793	691	L>V		No	ClinGen gnomAD
rs768551064 CA6734168	692	V>A		No	ClinGen ExAC gnomAD
rs955542323 CA242259630	692	V>L		No	ClinGen Ensembl
CA242259644 rs978003611	693	H>R		No	ClinGen Ensembl
rs1292515698 CA386191633	693	H>Y		No	ClinGen TOPMed
rs1484208059 CA386191644	694	T>S		No	ClinGen gnomAD
rs773212660 CA386191650	695	Y>C		No	ClinGen ExAC gnomAD
rs773212660 CA6734169	695	Y>F		No	ClinGen ExAC gnomAD
CA6734171 rs547042610	696	D>H		No	ClinGen 1000Genomes ExAC gnomAD
CA6734172 rs774252639	697	E>K		No	ClinGen ExAC gnomAD
rs1479880814 CA386191671	698	H>R		No	ClinGen gnomAD
TCGA novel	701	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs771871531 CA6734174	701	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA386191703 rs1565874054	703	N>D		No	ClinGen Ensembl
CA6734175 rs375497407	703	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1277747453 CA386191713	704	C>S		No	ClinGen TOPMed
CA386191712 rs1277747453 COSM4045594	704	C>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed
rs760249414 CA6734176	705	C>*		No	ClinGen ExAC TOPMed gnomAD
CA242259699 rs757675000	711	S>I		No	ClinGen ExAC gnomAD
CA6734177 rs757675000	711	S>N		No	ClinGen ExAC gnomAD
CA6734179 rs762198187	712	H>Q		No	ClinGen ExAC gnomAD
rs1345151023 CA386191771 COSM696222	712	H>R	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs754439819 CA6734178	712	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs765639224 CA6734180	713	H>Q		No	ClinGen ExAC gnomAD
CA386191786 rs1273605038	714	L>P		No	ClinGen TOPMed gnomAD
CA6734181 rs750808870	718	T>S		No	ClinGen ExAC TOPMed gnomAD
COSM4045596	719	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA242259718 rs936109471	721	S>G		No	ClinGen Ensembl
CA6734182 rs758724237	723	C>Y		No	ClinGen ExAC gnomAD
TCGA novel	726	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA6734184 rs751721415	726	K>R		No	ClinGen ExAC gnomAD
rs1236679061 CA386191887	728	W>R		No	ClinGen gnomAD
CA386191913 rs1159830268	731	N>S		No	ClinGen gnomAD
COSM3813298	734	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs371385003 CA6734201	734	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs150355642 CA6734203	736	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs150355642 CA386191948	736	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs751875283 CA386191950	736	R>L		No	ClinGen ExAC TOPMed gnomAD
CA6734204 rs751875283 COSM3376420	736	R>Q	Variant assessed as Somatic; MODERATE impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1349514649 CA386191954	737	N>T		No	ClinGen TOPMed
rs1441682462 CA386191962	738	T>N		No	ClinGen gnomAD
rs1196634330 CA386191970	739	M>I		No	ClinGen TOPMed gnomAD
rs1329531937 CA386191965	739	M>L		No	ClinGen TOPMed gnomAD
CA6734205 rs138068283	739	M>T		No	ClinGen ESP ExAC
CA386191966 rs1329531937	739	M>V		No	ClinGen TOPMed gnomAD
CA386191998 rs1377038331	743	T>I		No	ClinGen gnomAD
rs372234984 CA6734206	745	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs752738676 CA6734207	747	N>S		No	ClinGen ExAC gnomAD
rs756177170 CA6734208	748	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1565876108 CA386192043 COSM1628956	750	R>G	liver [Cosmic]	No	ClinGen cosmic curated Ensembl
rs745791119 CA6734211	756	K>M		No	ClinGen ExAC gnomAD
rs751896428 CA242269587	760	S>G		No	ClinGen Ensembl
CA6734214 rs746728734	765	G>A		No	ClinGen ExAC gnomAD
rs949895875 CA242269603	766	T>I		No	ClinGen gnomAD
CA386192154 rs949895875	766	T>N		No	ClinGen gnomAD
CA386192151 rs1459426851	766	T>P		No	ClinGen gnomAD
rs1351972494 CA386192528	771	D>N		No	ClinGen TOPMed gnomAD
rs758392274 CA6734230	772	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6734232 rs746811712	773	T>A		No	ClinGen ExAC gnomAD
CA386192558 rs1426054825	776	N>H		No	ClinGen TOPMed gnomAD
CA386192571 rs1265709632	777	E>D		No	ClinGen TOPMed gnomAD
rs138526583 CA6734233	777	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6734234 rs780723168	779	K>R		No	ClinGen ExAC gnomAD
rs747821940 CA6734235	781	I>V		No	ClinGen ExAC gnomAD
CA6734238 rs772678360	782	N>K		No	ClinGen ExAC gnomAD
CA6734236 rs117235991	782	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	783	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA242278195 rs1049129508	784	K>T		No	ClinGen Ensembl
rs774877020 CA6734240	785	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	785	Q>V	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs889240648 CA242278198	786	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
COSM1365087	787	F>S	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs528458271 CA6734241	788	L>V		No	ClinGen 1000Genomes ExAC gnomAD
COSM1365088	789	N>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA242278222 rs943472496	793	P>L		No	ClinGen TOPMed gnomAD
CA386192680 rs943472496	793	P>R		No	ClinGen TOPMed gnomAD
CA6734243 rs767861971	793	P>T		No	ClinGen ExAC TOPMed gnomAD
rs942746028 CA242278234	797	M>T		No	ClinGen TOPMed
rs764323516 CA6734246	797	M>V		No	ClinGen ExAC gnomAD
CA242278237 rs139083690	800	I>L		No	ClinGen ESP
CA6734247 rs372032284	800	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA386192734 rs1265368365	801	V>A		No	ClinGen gnomAD
CA6734249 rs375207439	805	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	805	S>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA6734248 rs375207439	805	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6734251 rs754789767	806	W>R		No	ClinGen ExAC gnomAD
rs755740436 CA6734254	808	A>D		No	ClinGen ExAC gnomAD
rs747836791 CA6734253	808	A>P		No	ClinGen ExAC gnomAD
CA242278289 rs1020237817	810	G>R		No	ClinGen Ensembl
CA6734256 rs777352704	812	R>S		No	ClinGen ExAC TOPMed gnomAD
CA386192821 rs1361940729 CA386192822	814	M>I		No	ClinGen TOPMed gnomAD
CA386192815 rs1438877391	814	M>V		No	ClinGen gnomAD
CA242278300 rs903003824	815	V>G		No	ClinGen TOPMed gnomAD
rs1322540971 CA386192830	816	A>E		No	ClinGen gnomAD
CA6734257 rs770359398	816	A>S		No	ClinGen ExAC gnomAD
CA6734258 rs779299447	818	K>E		No	ClinGen ExAC gnomAD
rs746385368 CA6734259	818	K>R		No	ClinGen ExAC TOPMed gnomAD
CA6734260 rs772365446	819	N>I		No	ClinGen ExAC gnomAD
rs1446559673 CA386193142	824	F>L		No	ClinGen gnomAD
CA242280487 rs986611316	824	F>Y		No	ClinGen TOPMed
CA6734277 rs746413382	826	I>V		No	ClinGen ExAC gnomAD
CA386193157 rs988787535	827	H>N		No	ClinGen TOPMed
rs988787535 CA242280496	827	H>Y		No	ClinGen TOPMed
COSM6074174	829	S>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA386193197 rs772659675	831	L>V		No	ClinGen ExAC gnomAD
rs1358771338 CA386193234	833	G>A		No	ClinGen gnomAD
CA6734284 rs1370612608	836	H>R		No	ClinGen TOPMed
CA6734283 rs748739981	836	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs200461221 COSM271106 CA6734287	837	T>M	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs200461221 CA386193268	837	T>R		No	ClinGen ExAC gnomAD
rs1366254921 CA386193280	839	H>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA386193294 rs1473476431	841	S>N		No	ClinGen gnomAD
CA6734291 rs760473774	842	T>I		No	ClinGen ExAC gnomAD
CA386193299 rs1593088817	842	T>P		No	ClinGen Ensembl
TCGA novel	844	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA386193325 rs61742041	845	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6734292 rs763860807	845	Y>H		No	ClinGen ExAC gnomAD
CA6734295 rs552696308	847	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs577187794 CA6734296	848	F>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA386193342 rs577187794	848	F>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757781136 CA6734297	849	S>F		No	ClinGen ExAC TOPMed gnomAD
rs757781136 CA386193351	849	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA386193355 rs1277817599	850	P>A		No	ClinGen TOPMed gnomAD
CA386193354 rs1277817599	850	P>S		No	ClinGen TOPMed gnomAD
rs1593088913 CA386193359	851	Q>K		No	ClinGen Ensembl
CA242280580 rs74485890	859	L>F		No	ClinGen Ensembl
CA386193423 rs1330866440	860	S>F		No	ClinGen TOPMed
rs1046589664 CA386193443	863	C>G		No	ClinGen TOPMed gnomAD
CA242280581 rs1046589664	863	C>R		No	ClinGen TOPMed gnomAD
CA386193444 rs1314286419	863	C>Y		No	ClinGen TOPMed
rs1480823721	865	E>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
CA242281794 rs935330987	868	N>H		No	ClinGen TOPMed
rs769663040 CA242281798	868	N>S		No	ClinGen Ensembl
CA6734309 RCV000908205 rs145807191	871	S>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs763928339 CA386193516	872	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6734310 rs763928339	872	R>G		No	ClinGen ExAC TOPMed gnomAD
COSM1365089 rs139940389 CA6734311	872	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1211021082 CA386193523	873	S>*		No	ClinGen gnomAD
rs761477565 CA6734312	878	C>R		No	ClinGen ExAC gnomAD
TCGA novel	878	C>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs764952058 CA6734313	880	G>R		No	ClinGen ExAC gnomAD
rs749986237 CA6734314	881	H>R		No	ClinGen ExAC gnomAD
CA386193601 rs1185700637	884	W>C		No	ClinGen gnomAD
TCGA novel	885	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA6734316 rs765984453	888	V>G		No	ClinGen ExAC gnomAD
rs1387271877 CA386193648	891	S>F		No	ClinGen Ensembl
rs752153806 CA6734317	892	P>S		No	ClinGen ExAC TOPMed gnomAD
CA6734318 rs61757705	894	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	895	S>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA6734320 rs199525775	898	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1158549284 CA386193701	900	S>T		No	ClinGen gnomAD
rs1565886402 CA386193710	901	S>F		No	ClinGen Ensembl
CA386193717 rs1401919701	902	D>G		No	ClinGen gnomAD
rs1358745830 CA386193713	902	D>N		No	ClinGen gnomAD
rs1358745830 CA386193715	902	D>Y		No	ClinGen gnomAD
CA6734338 rs751135737	912	K>E		No	ClinGen ExAC gnomAD
TCGA novel	912	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs759075433 CA6734339	914	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA386193858 rs1300938565	920	V>A		No	ClinGen TOPMed
rs1037139719 CA242282902	921	M>T		No	ClinGen TOPMed gnomAD
rs1236890095 CA386193901	926	V>L		No	ClinGen gnomAD
rs527785409 CA6734345	928	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1177878843 CA386193913	928	V>I		No	ClinGen TOPMed gnomAD
CA6734348 rs779069813	931	Q>H		No	ClinGen ExAC gnomAD
rs757495661 CA6734347	931	Q>L		No	ClinGen ExAC TOPMed gnomAD
COSM944903	932	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs745954515 CA6734349	936	M>I		No	ClinGen ExAC gnomAD
rs1593096095 CA386193969	936	M>V		No	ClinGen Ensembl
CA6734350 rs772086661	937	V>A		No	ClinGen ExAC gnomAD
CA6734351 rs772086661	937	V>D		No	ClinGen ExAC gnomAD
rs1403684533 CA386193982	938	L>F		No	ClinGen TOPMed
CA386194017 rs1280035474	943	I>K		No	ClinGen TOPMed gnomAD
rs762784665 CA6734355	943	I>M		No	ClinGen ExAC gnomAD
rs1280035474 CA386194019	943	I>R		No	ClinGen TOPMed gnomAD
TCGA novel	944	R>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM4045602 CA6734357 rs774076296	945	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs146420669 CA6734359	945	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146420669 CA6734358	945	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA386194031 rs1210750547	946	L>V		No	ClinGen gnomAD
TCGA novel	947	Q>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1198449155 CA386194039	947	Q>R		No	ClinGen gnomAD
rs771652223 CA6734378	948	L>F		No	ClinGen ExAC gnomAD
CA386194061 rs1244055611	949	I>V		No	ClinGen TOPMed gnomAD
CA6734379 rs201911170	951	G>E		No	ClinGen ExAC TOPMed gnomAD
CA386194075 rs1476273292	951	G>R		No	ClinGen gnomAD
rs763464521 CA6734381	953	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA386194091 rs777065914	953	T>I		No	ClinGen ExAC TOPMed gnomAD
rs777065914 CA6734382	953	T>R		No	ClinGen ExAC TOPMed gnomAD
CA386194094 rs1398831485	954	G>C		No	ClinGen gnomAD
rs140836008 CA386194095	954	G>D		No	ClinGen TOPMed gnomAD
rs140836008 CA242284822	954	G>V		No	ClinGen TOPMed gnomAD
CA386194103 rs1431964456	955	Q>H		No	ClinGen gnomAD
rs762223867 CA6734383	958	Y>D		No	ClinGen ExAC TOPMed gnomAD
rs762223867 CA386194121	958	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA386194151 rs1565889138	962	A>D		No	ClinGen Ensembl
rs1429607769 CA386194160	964	V>I		No	ClinGen TOPMed
rs1237211013 CA386194169	965	S>N		No	ClinGen gnomAD
CA6734385 rs750688002	966	C>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	974	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
CA386194258 rs1214460415	976	I>L		No	ClinGen gnomAD
CA242284867 rs1018371388	981	E>G		No	ClinGen Ensembl
CA6734389 rs751620088	984	A>G		No	ClinGen ExAC TOPMed gnomAD
CA386194346 rs1447748369	984	A>T		No	ClinGen gnomAD
rs751620088 CA6734388	984	A>V		No	ClinGen ExAC TOPMed gnomAD
rs977436429 CA242284875	985	I>T		No	ClinGen Ensembl
CA6734396 rs771655993	987	I>V		No	ClinGen ExAC TOPMed gnomAD
rs746515411 CA6734398	989	E>*		No	ClinGen ExAC gnomAD
CA6734400 rs768199255	989	E>D		No	ClinGen ExAC gnomAD
TCGA novel	989	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	991	V>E	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
CA386194662 rs1179538281	991	V>I		No	ClinGen gnomAD
CA386194666 rs1179538281	991	V>L		No	ClinGen gnomAD
TCGA novel	992	N>T	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1365089266 CA386194685	993	N>D		No	ClinGen gnomAD
rs201541593 CA6734401	993	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6734402 rs765642913	995	I>F		No	ClinGen ExAC gnomAD
rs1391745806 CA386194727	996	F>L		No	ClinGen gnomAD
CA6734403 rs773591717	999	R>G		No	ClinGen ExAC TOPMed gnomAD
CA6734404 rs763334786	1001	Q>R		No	ClinGen ExAC gnomAD
CA6734405 rs201122276	1002	H>R		No	ClinGen 1000Genomes ExAC
rs367942061 CA6734406	1003	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1003	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA386194804 rs1309756637	1004	K>E		No	ClinGen gnomAD
rs753865642 CA6734409	1007	W>R		No	ClinGen ExAC gnomAD
rs1294233498 CA386194878	1010	Q>H		No	ClinGen TOPMed
rs865856278 CA242286575	1011	F>L		No	ClinGen gnomAD
CA386194898 rs1337144915	1012	T>I		No	ClinGen gnomAD
CA386194918 rs1457139942	1014	D>E		No	ClinGen gnomAD
COSM1365090 rs745664662 CA6734412	1014	D>N	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA386194924 rs1310365747	1015	E>K		No	ClinGen TOPMed
rs566445624 CA6734414	1016	K>N		No	ClinGen ExAC gnomAD
rs560213908 CA6734417	1018	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs749487254 CA242286616	1019	I>T		No	ClinGen TOPMed
CA242286621 rs1041072160	1021	S>N		No	ClinGen TOPMed
CA6734418 rs527314665	1022	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs372125027 CA6734419	1023	D>Y		No	ClinGen ESP ExAC gnomAD
CA386194983 rs1423412865	1024	D>A		No	ClinGen gnomAD
CA6734420 RCV000880862 rs77127123	1025	A>D		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA386194991 rs77127123	1025	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6734421 rs77127123	1025	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1565890896 CA386194999	1026	E>D		No	ClinGen Ensembl
rs1488705546 CA386195006	1027	I>M		No	ClinGen TOPMed gnomAD
CA242286632 rs950931915	1028	Q>P		No	ClinGen Ensembl
rs1172295929 CA386184030	1029	V>I		No	ClinGen gnomAD
rs769232906 CA6734440	1030	W>C		No	ClinGen ExAC gnomAD
CA386184037 rs1377417508	1030	W>R		No	ClinGen TOPMed gnomAD
rs1297826286 CA386184045	1031	N>D		No	ClinGen gnomAD
TCGA novel	1032	W>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1297404420 CA386184075	1034	L>F		No	ClinGen gnomAD
rs771239250 CA6734443	1035	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1326772970 CA386184076	1035	D>N		No	ClinGen gnomAD
TCGA novel	1037	C>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1593115041 CA386184092	1037	C>R		No	ClinGen Ensembl
rs891427283 CA242240324	1037	C>Y		No	ClinGen TOPMed gnomAD
CA6734444 rs146238655	1038	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA6734445 rs139016212	1041	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA386184118 rs1284880203	1041	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA386184122 rs1593115083	1042	G>S		No	ClinGen Ensembl
rs1484658397 CA386184128	1043	H>D		No	ClinGen gnomAD
rs1188686896 CA386184134	1043	H>Q		No	ClinGen gnomAD
COSM4911163	1043	H>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1174338455 CA386184163	1048	K>Q		No	ClinGen TOPMed
rs1365471845 CA386184179	1050	F>I		No	ClinGen gnomAD
rs1192380601 CA386184229	1057	R>G		No	ClinGen gnomAD
COSM944908	1062	S>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM469122	1064	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA6734447 rs775798433	1068	K>E		No	ClinGen ExAC gnomAD
CA6734473 rs772552908	1069	V>L		No	ClinGen ExAC gnomAD
CA386184330 rs1324796082	1070	W>L		No	ClinGen TOPMed
CA6734474 rs775922661	1071	N>T		No	ClinGen ExAC TOPMed gnomAD
CA386184343 rs1370631738	1072	I>F		No	ClinGen gnomAD
CA242240781 rs945612121	1073	I>F		No	ClinGen TOPMed gnomAD
CA386184348 rs945612121	1073	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	1075	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1333644746 CA386184368	1076	N>Y		No	ClinGen gnomAD
CA242240814 rs1031502313	1077	K>R		No	ClinGen Ensembl
TCGA novel	1080	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs776799189 CA6734479	1085	Q>*		No	ClinGen ExAC gnomAD
rs761762347 CA6734480	1085	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs956766556 CA242240828	1086	G>R		No	ClinGen Ensembl
CA386184498 rs1481331123	1088	V>E		No	ClinGen TOPMed
CA6734482 rs774095537	1089	L>I		No	ClinGen ExAC TOPMed gnomAD
rs1010899516 CA242240848	1089	L>P		No	ClinGen Ensembl
rs1198087424 CA386184528	1091	C>Y		No	ClinGen TOPMed
rs759382270 CA6734483	1095	H>D		No	ClinGen ExAC gnomAD
CA6734485 rs538479133	1096	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1099	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA386184660 rs1166212907	1101	S>A		No	ClinGen gnomAD
CA6734489 rs753417958	1101	S>L		No	ClinGen ExAC TOPMed gnomAD
CA6734490 rs756653729	1102	S>F		No	ClinGen ExAC gnomAD
CA386184715 rs1354234840	1106	D>G		No	ClinGen gnomAD
CA6734493 rs758874019	1107	K>E		No	ClinGen ExAC gnomAD
rs780544831 CA6734494	1108	T>A		No	ClinGen ExAC gnomAD
rs1347613927 CA386184754	1109	A>E		No	ClinGen gnomAD
CA6734495 rs747331633	1109	A>T		No	ClinGen ExAC gnomAD
TCGA novel	1109	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1110	K>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1215717956 CA386184890	1111	I>M		No	ClinGen gnomAD
CA6734513 rs747384651	1113	S>N		No	ClinGen ExAC gnomAD
CA386184900 rs1280241646	1113	S>R		No	ClinGen TOPMed gnomAD
rs755242803 CA386184924	1116	L>F		No	ClinGen ExAC gnomAD
CA6734515 rs138188210 RCV000892513	1116	L>P		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA386184926 rs138188210	1116	L>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6734514 rs755242803	1116	L>V		No	ClinGen ExAC gnomAD
CA6734516 rs748311911	1120	L>I		No	ClinGen ExAC gnomAD
rs1342072892 CA386184973	1123	L>F		No	ClinGen TOPMed
CA6734517 rs769952075	1124	R>T		No	ClinGen ExAC TOPMed gnomAD
CA6734518 rs777805227	1125	G>R		No	ClinGen ExAC gnomAD
rs1394330327 CA386184989	1126	H>R		No	ClinGen gnomAD
rs772027707 CA6734520	1128	G>S		No	ClinGen ExAC TOPMed gnomAD
CA6734521 rs775336955	1129	C>W		No	ClinGen ExAC gnomAD
CA386185009 rs1375709252	1129	C>Y		No	ClinGen gnomAD
rs760531403 CA6734522	1131	R>C		No	ClinGen ExAC TOPMed gnomAD
rs753741775 CA6734523	1131	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1303333746 CA386185029	1132	C>W		No	ClinGen gnomAD
CA242242112 rs963014137	1133	S>F		No	ClinGen TOPMed
CA386185065 rs1236634608	1138	D>V		No	ClinGen gnomAD
rs776387511 CA6734525	1138	D>Y		No	ClinGen ExAC gnomAD
CA6734526 rs761349739	1139	S>G		No	ClinGen ExAC gnomAD
rs764895219 CA6734527	1139	S>R		No	ClinGen ExAC gnomAD
CA386185080 rs1286606399	1140	T>I		No	ClinGen TOPMed gnomAD
CA386185091 rs1252321441	1143	A>T		No	ClinGen gnomAD
CA6734530 rs762490601	1144	T>A		No	ClinGen ExAC TOPMed gnomAD
rs767010301 CA6734531	1144	T>M		No	ClinGen ExAC gnomAD
rs1183266400 CA386185126	1148	N>S		No	ClinGen TOPMed gnomAD
CA386185134 rs1322402178	1149	G>E		No	ClinGen TOPMed
TCGA novel	1150	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
CA6734533 rs547672538	1151	I>F		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	1154	W>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs777981927 CA6734558 CA386185767	1154	W>R		No	ClinGen ExAC gnomAD
COSM4847904	1157	S>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA6734561 rs778943117	1159	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
CA386185850 rs1389765950	1160	E>D		No	ClinGen gnomAD
CA6734562 rs184890158	1160	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6734563 rs754904382	1161	L>P		No	ClinGen ExAC gnomAD
COSM5225400	1162	L>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA386185876 rs1336392953	1163	H>Y		No	ClinGen TOPMed gnomAD
CA6734564 rs781120511	1166	A>G		No	ClinGen ExAC TOPMed gnomAD
rs761865771 COSM1299991 CA6734565	1167	P>L	Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA6734567 rs769703045	1170	E>Q		No	ClinGen ExAC gnomAD
rs773070279 CA6734568	1171	E>G		No	ClinGen ExAC gnomAD
CA6734569 rs748915330	1175	T>I		No	ClinGen ExAC TOPMed gnomAD
rs773754048 CA6734571	1176	H>L		No	ClinGen ExAC TOPMed gnomAD
CA386186019 rs773754048	1176	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1254876484 CA386186032	1177	G>E		No	ClinGen gnomAD
CA6734573 rs767913331	1177	G>R		No	ClinGen ExAC gnomAD
CA6734574 rs776005626	1178	G>D		No	ClinGen ExAC gnomAD
CA386186071 rs1593119842	1180	V>G		No	ClinGen Ensembl
CA386186114 rs1460953634	1183	L>R		No	ClinGen TOPMed gnomAD
CA6734577 rs754108532	1184	C>Y		No	ClinGen ExAC gnomAD
CA386186135 rs1469574620	1185	F>L		No	ClinGen TOPMed
rs757493517 CA6734578	1185	F>Y		No	ClinGen ExAC gnomAD
CA386186162 rs1434177122	1187	P>S		No	ClinGen gnomAD
rs1311292979 CA386186178	1188	D>G		No	ClinGen gnomAD
CA386186174 rs1273410681	1188	D>H		No	ClinGen TOPMed
TCGA novel	1188	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs765405502 CA6734579	1189	G>D		No	ClinGen ExAC gnomAD
rs1451070468 CA386186211	1190	K>N		No	ClinGen Ensembl
CA386186225 rs1313217387	1191	M>I		No	ClinGen gnomAD
TCGA novel	1192	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA242243674 rs775537135	1192	L>P		No	ClinGen Ensembl
CA242243678 rs928100789	1193	I>L		No	ClinGen TOPMed gnomAD
CA386186250 rs1264214781	1193	I>T		No	ClinGen TOPMed
CA386186268 rs1211761456	1195	A>P		No	ClinGen gnomAD
rs1225227362 CA386186287	1196	G>A		No	ClinGen gnomAD
rs1271853699 CA386186311	1198	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	1199	I>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1200	K>S	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
CA242247467 rs1007216250	1204	V>I		No	ClinGen TOPMed
CA386187259 rs1593143345	1205	V>A		No	ClinGen Ensembl
CA6734599 rs758478742	1205	V>F		No	ClinGen ExAC
CA386187272 rs1221336265	1206	T>N		No	ClinGen TOPMed
CA242247469 rs914781090	1206	T>P		No	ClinGen TOPMed
TCGA novel	1208	E>G	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
CA386187345 rs1593143394	1211	Q>R		No	ClinGen Ensembl
CA386187395 rs1167283390	1214	Y>C		No	ClinGen TOPMed gnomAD
CA242247479 rs201917086	1216	N>K		No	ClinGen Ensembl
COSM944909	1217	G>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA386187490 rs1199884610	1220	L>F		No	ClinGen TOPMed
rs752622248 CA6734601	1222	K>E		No	ClinGen ExAC gnomAD
rs756138161 CA6734602	1223	I>L		No	ClinGen ExAC gnomAD
rs1397034513 CA386187542	1223	I>T		No	ClinGen gnomAD
rs777810915 CA6734603	1224	H>N		No	ClinGen ExAC gnomAD
CA6734606 rs778485671	1225	V>A		No	ClinGen ExAC gnomAD
CA6734605 rs201029707	1225	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs201029707 COSM1365091 CA6734604	1225	V>M	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs745529226 CA386187575	1226	S>C		No	ClinGen ExAC TOPMed gnomAD
CA6734607 rs745529226	1226	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA386187581 rs1440143134	1227	P>A		No	ClinGen gnomAD
rs142230441 CA6734609	1228	D>H		No	ClinGen ESP ExAC gnomAD
CA242247568 rs902945001	1229	F>C		No	ClinGen TOPMed
CA6734610 rs746482334	1230	K>E		No	ClinGen ExAC TOPMed gnomAD
rs769157410 CA386187625	1230	K>I		No	ClinGen ExAC gnomAD
rs769157410 CA6734611	1230	K>R		No	ClinGen ExAC gnomAD
rs1565901817 CA386187637	1231	T>I		No	ClinGen Ensembl
rs762226148 CA6734613	1236	D>A		No	ClinGen ExAC
TCGA novel	1236	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1336372390 CA386187669	1236	D>N		No	ClinGen gnomAD
TCGA novel	1239	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA386187693 rs1269220874	1239	G>V		No	ClinGen gnomAD
rs1433218417 CA386187706	1241	L>*		No	ClinGen TOPMed
TCGA novel	1242	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs763208735 CA6734616	1242	Y>H		No	ClinGen ExAC gnomAD
CA386187730 rs1176645020	1245	Q>*		No	ClinGen gnomAD
rs1189146612 CA386187734	1245	Q>R		No	ClinGen TOPMed
rs369724536 CA6734617	1247	L>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1160150643 CA386187757	1248	E>Q		No	ClinGen TOPMed gnomAD

No associated diseases with O14727

No regional properties for O14727

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for O14727

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm
PANTHER Family	PTHR22845	APOPTOTIC PROTEASE-ACTIVATING FACTOR 1
PANTHER Subfamily	PTHR22845:SF5	APOPTOTIC PROTEASE-ACTIVATING FACTOR 1
PANTHER Protein Class
PANTHER Pathway Category	p53 pathway Apaf Apoptosis signaling pathway Apaf-1 FAS signaling pathway Apaf1 Huntington disease Apaf-1

8 GO annotations of cellular component

Name	Definition
apoptosome	A multisubunit protein complex involved in the signaling phase of the apoptotic process. In mammals it is typically composed of seven Apaf-1 subunits bound to cytochrome c and caspase-9. A similar complex to promote apoptosis is formed from homologous gene products in other eukaryotic organisms.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
ficolin-1-rich granule lumen	Any membrane-enclosed lumen that is part of a ficolin-1-rich granule.
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.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.
secretory granule lumen	The volume enclosed by the membrane of a secretory granule.

6 GO annotations of molecular function

Name	Definition
ADP binding	Binding to ADP, adenosine 5'-diphosphate.
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
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.
heat shock protein binding	Binding to a heat shock protein, a protein synthesized or activated in response to heat shock.
identical protein binding	Binding to an identical protein or proteins.
nucleotide binding	Binding to a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose.

21 GO annotations of biological process

Name	Definition
activation of cysteine-type endopeptidase activity	Any process that initiates the activity of the inactive enzyme cysteine-type endopeptidase.
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.
activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c	Any process that initiates the activity of the inactive enzyme cysteine-type endopeptidase in the context of an apoptotic process and is mediated by cytochrome c.
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.
cardiac muscle cell apoptotic process	A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle a cardiac muscle cell and result in its death. Cardiac muscle cells are striated muscle cells that are responsible for heart contraction.
cell differentiation	The cellular developmental process in which a relatively unspecialized cell, e.g. embryonic or regenerative cell, acquires specialized structural and/or functional features that characterize a specific cell. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
cellular response to transforming growth factor beta stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a transforming growth factor beta stimulus.
forebrain development	The process whose specific outcome is the progression of the forebrain over time, from its formation to the mature structure. The forebrain is the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions).
intrinsic apoptotic signaling pathway	The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway starts with reception of an intracellular signal (e.g. DNA damage, endoplasmic reticulum stress, oxidative stress etc.), and ends when the execution phase of apoptosis is triggered. The intrinsic apoptotic signaling pathway is crucially regulated by permeabilization of the mitochondrial outer membrane (MOMP).
intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced in response to a stimulus indicating endoplasmic reticulum (ER) stress, and ends when the execution phase of apoptosis is triggered. ER stress usually results from the accumulation of unfolded or misfolded proteins in the ER lumen.
kidney development	The process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and/or excretes the end products of body metabolism in the form of urine.
nervous system development	The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.
neural tube closure	The last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline.
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.
positive regulation of apoptotic process	Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process.
positive regulation of apoptotic signaling pathway	Any process that activates or increases the frequency, rate or extent of apoptotic signaling pathway.
regulation of apoptotic DNA fragmentation	Any process that modulates the frequency, rate or extent of apoptotic DNA fragmentation.
regulation of apoptotic process	Any process that modulates the occurrence or rate of cell death by apoptotic process.
response to G1 DNA damage checkpoint signaling	A process that occurs in response to signals generated as a result of G1/S transition DNA damage checkpoint signaling.
response to hypoxia	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level.
response to nutrient	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nutrient stimulus.

19 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3MJ13	WDR72	WD repeat-containing protein 72	Homo sapiens (Human)	PR
O88879	Apaf1	Apoptotic protease-activating factor 1	Mus musculus (Mouse)	EV
Q9EPV5	Apaf1	Apoptotic protease-activating factor 1	Rattus norvegicus (Rat)	SS
O64973	RPS5	Disease resistance protein RPS5	Arabidopsis thaliana (Mouse-ear cress)	PR
P60838	SUMM2	Disease resistance protein SUMM2	Arabidopsis thaliana (Mouse-ear cress)	PR
P0C8S1	RPP8L2	Probable disease resistance RPP8-like protein 2	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8W3K3	At1g58400	Putative disease resistance protein At1g58400	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9C646	RXW24L	Probable disease resistance protein RXW24L	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9XIF0	At1g59780	Putative disease resistance protein At1g59780	Arabidopsis thaliana (Mouse-ear cress)	PR
Q940K0	UNI	Disease resistance protein UNI	Arabidopsis thaliana (Mouse-ear cress)	PR
O22727	At1g61190	Probable disease resistance protein At1g61190	Arabidopsis thaliana (Mouse-ear cress)	PR
O64790	At1g61300	Probable disease resistance protein At1g61300	Arabidopsis thaliana (Mouse-ear cress)	PR
O64789	At1g61310	Probable disease resistance protein At1g61310	Arabidopsis thaliana (Mouse-ear cress)	PR
Q39214	RPM1	Disease resistance protein RPM1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LRR4	RPPL1	Putative disease resistance RPP13-like protein 1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q38834	RPP13L4	Disease resistance RPP13-like protein 4	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9T048	At4g27190	Disease resistance protein At4g27190	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FJB5	RPP8L3	Disease resistance RPP8-like protein 3	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9I9H8	apaf1	Apoptotic protease-activating factor 1	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MDAKARNCLL	QHREALEKDI	KTSYIMDHMI	SDGFLTISEE	EKVRNEPTQQ	QRAAMLIKMI
70	80	90	100	110	120
LKKDNDSYVS	FYNALLHEGY	KDLAALLHDG	IPVVSSSSGK	DSVSGITSYV	RTVLCEGGVP
130	140	150	160	170	180
QRPVVFVTRK	KLVNAIQQKL	SKLKGEPGWV	TIHGMAGCGK	SVLAAEAVRD	HSLLEGCFPG
190	200	210	220	230	240
GVHWVSVGKQ	DKSGLLMKLQ	NLCTRLDQDE	SFSQRLPLNI	EEAKDRLRIL	MLRKHPRSLL
250	260	270	280	290	300
ILDDVWDSWV	LKAFDSQCQI	LLTTRDKSVT	DSVMGPKYVV	PVESSLGKEK	GLEILSLFVN
310	320	330	340	350	360
MKKADLPEQA	HSIIKECKGS	PLVVSLIGAL	LRDFPNRWEY	YLKQLQNKQF	KRIRKSSSYD
370	380	390	400	410	420
YEALDEAMSI	SVEMLREDIK	DYYTDLSILQ	KDVKVPTKVL	CILWDMETEE	VEDILQEFVN
430	440	450	460	470	480
KSLLFCDRNG	KSFRYYLHDL	QVDFLTEKNC	SQLQDLHKKI	ITQFQRYHQP	HTLSPDQEDC
490	500	510	520	530	540
MYWYNFLAYH	MASAKMHKEL	CALMFSLDWI	KAKTELVGPA	HLIHEFVEYR	HILDEKDCAV
550	560	570	580	590	600
SENFQEFLSL	NGHLLGRQPF	PNIVQLGLCE	PETSEVYQQA	KLQAKQEVDN	GMLYLEWINK
610	620	630	640	650	660
KNITNLSRLV	VRPHTDAVYH	ACFSEDGQRI	ASCGADKTLQ	VFKAETGEKL	LEIKAHEDEV
670	680	690	700	710	720
LCCAFSTDDR	FIATCSVDKK	VKIWNSMTGE	LVHTYDEHSE	QVNCCHFTNS	SHHLLLATGS
730	740	750	760	770	780
SDCFLKLWDL	NQKECRNTMF	GHTNSVNHCR	FSPDDKLLAS	CSADGTLKLW	DATSANERKS
790	800	810	820	830	840
INVKQFFLNL	EDPQEDMEVI	VKCCSWSADG	ARIMVAAKNK	IFLFDIHTSG	LLGEIHTGHH
850	860	870	880	890	900
STIQYCDFSP	QNHLAVVALS	QYCVELWNTD	SRSKVADCRG	HLSWVHGVMF	SPDGSSFLTS
910	920	930	940	950	960
SDDQTIRLWE	TKKVCKNSAV	MLKQEVDVVF	QENEVMVLAV	DHIRRLQLIN	GRTGQIDYLT
970	980	990	1000	1010	1020
EAQVSCCCLS	PHLQYIAFGD	ENGAIEILEL	VNNRIFQSRF	QHKKTVWHIQ	FTADEKTLIS
1030	1040	1050	1060	1070	1080
SSDDAEIQVW	NWQLDKCIFL	RGHQETVKDF	RLLKNSRLLS	WSFDGTVKVW	NIITGNKEKD
1090	1100	1110	1120	1130	1140
FVCHQGTVLS	CDISHDATKF	SSTSADKTAK	IWSFDLLLPL	HELRGHNGCV	RCSAFSVDST
1150	1160	1170	1180	1190	1200
LLATGDDNGE	IRIWNVSNGE	LLHLCAPLSE	EGAATHGGWV	TDLCFSPDGK	MLISAGGYIK
1210	1220	1230	1240
WWNVVTGESS	QTFYTNGTNL	KKIHVSPDFK	TYVTVDNLGI	LYILQTLE