AiPD: Autoinhibited Protein Database

P29322

Gene name	EPHA8 (EEK, HEK3, KIAA1459)
Protein name	Ephrin type-A receptor 8
Names	EC 2.7.10.1 , EPH- and ELK-related kinase , EPH-like kinase 3 , EK3 , hEK3 , Tyrosine-protein kinase receptor EEK
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2046
EC number	2.7.10.1: Protein-tyrosine kinases
Protein Class

Descriptions

Ephrin type-B receptor 2 is a membrane-associated protein that mediates axon guidance, cell migration and morphogenesis. The Eph receptor tyrosine kinase family is regulated by autophosphorylation within the juxtamembrane region and the kinase activation segment. The structure, supported by mutagenesis data, reveals that the juxtamembrane segment adopts a helical conformation that distorts the small lobe of the kinase domain, and blocks the activation segment from attaining an activated conformation. Phosphorylation of the conserved juxtamembrane tyrosines would relieve this autoinhibition by disturbing the association of the juxtamembrane segment with the kinase domain, while liberating phosphotyrosine sites for binding SH2 domains of target proteins.

Autoinhibitory domains (AIDs)

609-635 (Juxtamembrane domain) SS

Target domain	635-896 (Protein kinase domain)
Relief mechanism	PTM
Assay

AID

609-635 (Juxtamembrane domain)

Target domain

635-896 (Protein kinase domain)

Relief mechanism

PTM (Phosphorylation of juxtamembrane domain)

Assay

Accessory elements

777-803 (Activation loop from InterPro)

Target domain	635-896 (Protein kinase domain)
Relief mechanism
Assay

References

Hubbard SR (2004) "Juxtamembrane autoinhibition in receptor tyrosine kinases", Nature reviews. Molecular cell biology, 5, 464-71

Wybenga-Groot LE et al. (2001) "Structural basis for autoinhibition of the Ephb2 receptor tyrosine kinase by the unphosphorylated juxtamembrane region", Cell, 106, 745-57

Autoinhibited structure

Activated structure

4 structures for P29322

Entry ID	Method	Resolution	Chain	Position	Source
1UCV	NMR	-	A	933-1000	PDB
1X5L	NMR	-	A	437-534	PDB
3KUL	X-ray	215 A	A/B	602-909	PDB
AF-P29322-F1	Predicted				AlphaFoldDB

1269 variants for P29322

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001572900 RCV002569063 rs150553424	93	G>S	Inborn genetic diseases [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1640264975	2	A>V		No	TOPMed
rs1640265044	3	P>A		No	Ensembl
rs1640265107	4	A>T		No	Ensembl
rs1166883643	5	R>W		No	TOPMed gnomAD
rs2124501802	6	G>A		No	Ensembl
rs1042555143	7	R>C		No	gnomAD
rs902613029	7	R>H		No	TOPMed gnomAD
rs902613029	7	R>P		No	TOPMed gnomAD
rs1309912365	9	P>L		No	Ensembl
rs1309912365	9	P>R		No	Ensembl
rs1640266007	9	P>S		No	gnomAD
rs1640266268	10	P>A		No	gnomAD
rs1640266390	10	P>R		No	TOPMed
rs1640266268	10	P>T		No	gnomAD
rs1311276052	11	A>E		No	gnomAD
rs1209020245	11	A>P		No	TOPMed
rs1209020245	11	A>T		No	TOPMed
rs1640267152	13	W>*		No	TOPMed
rs1640267415	16	T>K		No	TOPMed
rs1640268110	19	A>V		No	Ensembl
rs2124501904	20	A>G		No	Ensembl
rs2124501912	21	A>G		No	Ensembl
rs1640268336	21	A>S		No	1000Genomes
rs1640268396	23	T>P		No	TOPMed
rs1234772137	25	V>L		No	gnomAD
rs1483495299	28	A>E		No	TOPMed
rs1483495299	28	A>V		No	TOPMed
rs1640268864	29	R>P		No	Ensembl
TCGA novel	30	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1557546661	30	G>S		No	Ensembl
rs765990373	34	L>F		No	ExAC TOPMed gnomAD
rs773672647	35	L>V		No	ExAC TOPMed gnomAD
COSM464094 COSM464093	36	D>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs200476235	37	T>K		No	ExAC TOPMed gnomAD
rs200476235	37	T>M		No	ExAC TOPMed gnomAD
COSM464098 COSM464097	37	T>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs767316353	38	S>L		No	ExAC TOPMed gnomAD
rs1052037972	38	S>P		No	TOPMed
rs767316353	38	S>W		No	ExAC TOPMed gnomAD
rs1383954348	39	T>A		No	TOPMed gnomAD
rs1383954348	39	T>P		No	TOPMed gnomAD
rs147107186	40	I>T		No	ESP ExAC TOPMed gnomAD
rs763862668	41	H>Y		No	ExAC gnomAD
rs1329533785	42	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs370205666	45	G>D		No	ESP ExAC TOPMed gnomAD
VAR_042153 rs45498698	45	G>S		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs370205666	45	G>V		No	ESP ExAC TOPMed gnomAD
COSM266468 COSM266467	46	W>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1242022682	47	L>P		No	gnomAD
rs367682437	48	T>K		No	ESP ExAC TOPMed gnomAD
rs367682437	48	T>M		No	ESP ExAC TOPMed gnomAD
rs367682437	48	T>R		No	ESP ExAC TOPMed gnomAD
rs777065034	50	P>L		No	ExAC TOPMed gnomAD
rs1480515620	51	A>S		No	TOPMed gnomAD
rs1640457971 TCGA novel	53	G>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
COSM3484869 COSM3484868	54	W>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs745520846	54	W>G		No	ExAC TOPMed gnomAD
rs1419113927	54	W>L		No	gnomAD
rs1290026909	55	D>A		No	TOPMed gnomAD
rs1429380962	55	D>E		No	gnomAD
rs1640686975	55	D>N		No	TOPMed
rs1290026909	55	D>V		No	TOPMed gnomAD
rs2124519825	57	I>M		No	Ensembl
rs1172776048	57	I>S		No	gnomAD
rs771547728	58	N>S		No	ExAC TOPMed gnomAD
rs771547728	58	N>T		No	ExAC TOPMed gnomAD
rs925019483	59	E>A		No	TOPMed
rs768533785	59	E>D		No	ExAC gnomAD
rs760621090	59	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs56402644 VAR_042154	60	V>L		No	UniProt Ensembl dbSNP
rs1557555588	61	D>N		No	Ensembl
rs142067038	62	E>*		No	ESP ExAC TOPMed gnomAD
rs142067038 COSM3484871 COSM3484870	62	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs750672863 COSM3864712 COSM3864713	63	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs1569962417	63	S>P		No	Ensembl
rs766378509	65	Q>*		No	ExAC gnomAD
rs1233938022	65	Q>R		No	gnomAD
rs751639041	66	P>A		No	ExAC TOPMed gnomAD
rs1640689096	66	P>R		No	gnomAD
rs751639041	66	P>S		No	ExAC TOPMed gnomAD
rs2124519914	68	H>R		No	Ensembl
rs755571143	68	H>Y		No	ExAC gnomAD
rs1359234020 COSM305914 COSM305915	69	T>M	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated TOPMed gnomAD
rs753231159	73	C>S		No	ExAC gnomAD
rs2124519930	74	N>S		No	Ensembl
rs778195570	75	V>I		No	ExAC gnomAD
rs1484910204	76	M>I		No	TOPMed gnomAD
rs1204795436	77	S>R		No	TOPMed
rs577503096	77	S>R		No	1000Genomes ExAC gnomAD
rs1257051181	78	P>A		No	TOPMed
rs771697649	78	P>L		No	ExAC gnomAD
rs1640690627	79	N>D		No	Ensembl
COSM1687168 rs372331897 COSM1687169	79	N>S	skin [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs1436544769	80	Q>E		No	gnomAD
rs376900516	80	Q>R		No	ESP ExAC TOPMed gnomAD
rs1344147370	81	N>H		No	TOPMed gnomAD
rs544912245	81	N>K		No	1000Genomes ExAC TOPMed gnomAD
rs1344147370	81	N>Y		No	TOPMed gnomAD
TCGA novel	84	L>P	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs567786868 COSM905204	85	R>C	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs763102049	85	R>H		No	ExAC TOPMed gnomAD
rs763102049	85	R>P		No	ExAC TOPMed gnomAD
TCGA novel	86	T>E	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs200156030	86	T>M		No	1000Genomes ExAC gnomAD
rs759737535	87	S>N		No	ExAC gnomAD
rs1402471074	88	W>*		No	TOPMed gnomAD
rs1402471074	88	W>C		No	TOPMed gnomAD
rs767689378	90	P>S		No	ExAC gnomAD
rs767689378	90	P>T		No	ExAC gnomAD
rs753322537	91	R>*		No	ExAC TOPMed gnomAD
rs753322537	91	R>G		No	ExAC TOPMed gnomAD
rs756576145	91	R>P		No	ExAC gnomAD
COSM1997277 COSM1997278 rs756576145	91	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs145476843	92	D>E		No	1000Genomes ESP ExAC TOPMed gnomAD
rs150553424	93	G>C		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1455408456	93	G>D		No	gnomAD
rs1455408456	93	G>V		No	gnomAD
COSM2154345 COSM2154346 rs758018689	94	A>T	Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs148846897	95	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
COSM464100 rs751977374 COSM464099	95	R>W	kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1391875727 COSM905206	96	R>C	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs1391875727	96	R>G		No	gnomAD
rs754544338	96	R>H		No	ExAC TOPMed gnomAD
rs562198376 COSM42640 COSM1559280	97	V>I	Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs748046093	98	Y>H		No	ExAC gnomAD
rs951196362	99	A>G		No	TOPMed
rs769718758	100	E>*		No	ExAC TOPMed gnomAD
rs1374620571	100	E>D		No	TOPMed gnomAD
COSM3721646 rs769718758 COSM3721645	100	E>K	upper_aerodigestive_tract Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC TOPMed gnomAD
rs1177727145	101	I>T		No	Ensembl
rs148164803	102	K>E		No	1000Genomes ESP ExAC TOPMed gnomAD
rs148164803	102	K>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs749144133	102	K>R		No	ExAC TOPMed gnomAD
rs749144133	102	K>T		No	ExAC TOPMed gnomAD
rs1557555997	105	L>Q		No	TOPMed
TCGA novel	105	L>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM1339948 COSM1339949	106	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs770825298	106	R>S		No	ExAC TOPMed gnomAD
COSM3484872 rs774769663 COSM3484873	107	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs774769663	107	D>Y		No	ExAC gnomAD
rs1470735573	109	N>S		No	TOPMed gnomAD
rs1232257889	111	M>I		No	TOPMed gnomAD
rs1179328822	111	M>V		No	gnomAD
rs1569963170	112	P>L		No	Ensembl
rs759833113	113	G>D		No	ExAC gnomAD
rs1640696690	113	G>R		No	TOPMed gnomAD
rs767709429	114	V>A		No	ExAC gnomAD
rs1640697111	115	L>P		No	gnomAD
rs150187218	115	L>V		No	ESP ExAC TOPMed gnomAD
rs1640697178	116	G>S		No	Ensembl
rs1165199164	116	G>V		No	gnomAD
rs764624482	117	T>A		No	ExAC TOPMed gnomAD
rs1408592467	117	T>I		No	TOPMed gnomAD
rs1408592467	117	T>N		No	TOPMed gnomAD
rs1302045042	118	C>Y		No	TOPMed
rs1569963294	122	F>C		No	Ensembl
VAR_042155	123	N>K	a breast infiltrating ductal carcinoma sample; somatic mutation [UniProt]	No	UniProt
rs757692138	125	Y>C		No	ExAC gnomAD
rs905212002	126	Y>C		No	TOPMed
rs1640698322	126	Y>D		No	Ensembl
rs369145872	128	E>A		No	ESP ExAC TOPMed gnomAD
rs1019479070	129	S>A		No	Ensembl
rs751283643	129	S>L		No	ExAC TOPMed gnomAD
rs754562491	130	D>V		No	ExAC gnomAD
rs757672919 COSM3984809 COSM3984810	131	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs2124520469	131	R>S		No	Ensembl
TCGA novel	132	D>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs780699593	132	D>N		No	ExAC gnomAD
rs138738837	133	L>M		No	ESP ExAC TOPMed gnomAD
COSM3484879 rs1479607175 COSM3484878	134	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs146324097	134	G>R		No	ESP TOPMed gnomAD
TCGA novel	135	A>G	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs777812539	135	A>S		No	ExAC TOPMed gnomAD
COSM94206 rs777812539	135	A>T	breast [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
COSM3360728 COSM3360729	135	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs975474573	138	Q>P		No	Ensembl
rs1474243277 COSM1997287 COSM1997286	139	E>Q	urinary_tract [Cosmic]	No	cosmic curated gnomAD
rs1166941280	141	Q>R		No	gnomAD
rs1333715861	143	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs774222703	143	L>R		No	ExAC TOPMed gnomAD
rs1411998753	144	K>R		No	TOPMed gnomAD
rs746101749	145	I>S		No	ExAC TOPMed gnomAD
rs775464367	146	D>N		No	ExAC TOPMed gnomAD
rs775464367	146	D>Y		No	ExAC TOPMed gnomAD
rs768600015	148	I>T		No	ExAC gnomAD
rs760851429	148	I>V		No	ExAC TOPMed gnomAD
rs777255535	149	A>E		No	ExAC TOPMed gnomAD
rs777255535	149	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1025510947	150	A>T		No	TOPMed
rs750733199	151	D>E		No	ExAC gnomAD
COSM905209 COSM905210	151	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1278129338	151	D>N		No	TOPMed gnomAD
rs1278129338	151	D>Y		No	TOPMed gnomAD
COSM5966986 rs1640702577 COSM5966985	152	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic TOPMed gnomAD
rs1247192999	153	S>N		No	gnomAD
rs199987810	154	F>L		No	1000Genomes ExAC TOPMed gnomAD
rs199987810	154	F>V		No	1000Genomes ExAC TOPMed gnomAD
rs767194142	155	T>A		No	ExAC TOPMed gnomAD
rs1640702971	155	T>R		No	Ensembl
rs752266814	156	G>D		No	ExAC gnomAD
rs1214998987	157	A>T		No	TOPMed gnomAD
rs1640703306	158	D>N		No	TOPMed
rs1640703969	159	L>V		No	gnomAD
rs370843084	160	G>C		No	1000Genomes ESP ExAC TOPMed gnomAD
rs370843084	160	G>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1451737171	161	V>L		No	gnomAD
rs1395045322	162	R>P		No	TOPMed gnomAD
rs1395045322	162	R>Q		No	TOPMed gnomAD
rs796756543	162	R>W		No	TOPMed gnomAD
COSM414581 COSM414580 rs757202575	163	R>H	urinary_tract [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs757202575	163	R>P		No	ExAC TOPMed gnomAD
rs1382969559	165	K>E		No	TOPMed gnomAD
rs142239276	168	T>K		No	1000Genomes ESP ExAC TOPMed gnomAD
rs142239276	168	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs142239276	168	T>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1557556550	170	V>M		No	Ensembl
COSM183246 COSM183245 rs768851018	171	R>C	large_intestine [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs768851018	171	R>G		No	ExAC TOPMed gnomAD
rs776511588 COSM905211 COSM905212	171	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs768851018	171	R>S		No	ExAC TOPMed gnomAD
rs1241219559	172	S>G		No	TOPMed gnomAD
rs1241219559	172	S>R		No	TOPMed gnomAD
rs570237058	172	S>R		No	1000Genomes ExAC TOPMed gnomAD
rs1640706090	174	G>S		No	Ensembl
rs773673708	175	P>L		No	ExAC TOPMed gnomAD
rs773673708	175	P>R		No	ExAC TOPMed gnomAD
rs1257688669	175	P>S		No	gnomAD
rs766636647	176	L>F		No	ExAC TOPMed gnomAD
rs1188000635	177	S>C		No	gnomAD
rs1557556639 COSM1639746 COSM20619 VAR_042156	179	R>C	urinary_tract stomach a gastric adenocarcinoma sample; somatic mutation [Cosmic, UniProt]	No	cosmic curated UniProt TOPMed dbSNP gnomAD
rs760177071	179	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs187814118	180	G>C		No	1000Genomes ESP ExAC gnomAD
rs187814118	180	G>S		No	1000Genomes ESP ExAC gnomAD
rs145031815	181	F>Y		No	ESP TOPMed
rs1569964107	182	Y>S		No	Ensembl
rs1370039670	183	L>V		No	gnomAD
rs753237688	184	A>V		No	ExAC TOPMed gnomAD
rs1227307074	186	Q>R		No	TOPMed gnomAD
rs1453171448	187	D>N		No	gnomAD
rs1387189639	188	I>M		No	gnomAD
rs1640709348	188	I>R		No	TOPMed gnomAD
rs1640709348	188	I>T		No	TOPMed gnomAD
rs779034408	188	I>V		No	ExAC TOPMed gnomAD
rs1361482584	189	G>R		No	TOPMed
rs768686298	190	A>S		No	ExAC gnomAD
rs768686298	190	A>T		No	ExAC gnomAD
rs1325451914	191	C>R		No	gnomAD
rs1400353622	192	L>M		No	TOPMed gnomAD
rs1640710151	192	L>R		No	TOPMed
rs1400353622	192	L>V		No	TOPMed gnomAD
rs758328561	194	I>V		No	ExAC
COSM4896507 COSM4896506 rs1466759802	196	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs1333861109	198	R>C		No	TOPMed gnomAD
rs370576065 COSM905213 COSM905214	198	R>H	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
VAR_042157	198	R>L	a lung adenocarcinoma sample; somatic mutation [UniProt]	No	UniProt
TCGA novel	198	R>S	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1330578538	199	I>M		No	TOPMed gnomAD
rs1260845914	199	I>V		No	gnomAD
rs1640711322	201	Y>*		No	Ensembl
rs747263088	201	Y>C		No	ExAC TOPMed gnomAD
rs781359092	204	C>R		No	ExAC gnomAD
rs769840240	205	P>H		No	ExAC gnomAD
rs1640712160	206	A>T		No	Ensembl
rs749789776	207	M>T		No	ExAC TOPMed gnomAD
rs1640712587	209	R>C		No	gnomAD
rs62642541	209	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1640712821	210	N>D		No	TOPMed
rs1640712921	210	N>S		No	TOPMed gnomAD
COSM1743270 rs56193119 COSM1743269	211	L>M	biliary_tract [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs776392628	215	S>L		No	ExAC TOPMed gnomAD
COSM1718751 COSM1718752	216	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs759801337	217	A>T		No	ExAC gnomAD
rs764828706	218	V>A		No	ExAC gnomAD
TCGA novel	219	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1394031937 COSM4029295 COSM4029294	219	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
COSM3484882 COSM3484883	220	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1390798586	221	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1640713975	221	A>V		No	TOPMed
COSM905215 rs1351802924 COSM905216	222	D>N	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs758347205	223	S>L		No	ExAC TOPMed gnomAD
rs779712228	224	S>F		No	ExAC TOPMed gnomAD
TCGA novel	224	S>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs544874360	227	V>M		No	1000Genomes
TCGA novel	230	R>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1640715462	231	G>S		No	Ensembl
rs1223268633	232	Q>R		No	TOPMed gnomAD
rs1384956238	233	C>F		No	TOPMed
rs556852015	234	V>L		No	1000Genomes ExAC TOPMed gnomAD
COSM1733943 COSM1733944 rs556852015	234	V>M	pancreas [Cosmic]	No	cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs374015787	235	R>P		No	ESP ExAC TOPMed gnomAD
rs374015787	235	R>Q		No	ESP ExAC TOPMed gnomAD
rs748354273 COSM1997309 COSM1997310	235	R>W	ovary [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs372232524	236	H>D		No	ESP ExAC TOPMed gnomAD
rs201777623	239	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs746259616	240	R>Q		No	ExAC gnomAD
rs202149500 COSM5443170 COSM5443169	240	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1423915318	241	D>A		No	TOPMed gnomAD
COSM905218 COSM905217	241	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM4404882 COSM4404883	243	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1308574178	243	P>S		No	gnomAD
rs776485975	245	M>I		No	ExAC gnomAD
rs975314947	245	M>R		No	TOPMed gnomAD
rs761554734	248	S>G		No	ExAC TOPMed gnomAD
COSM425540 rs202015824 COSM425541	249	A>T	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed
rs768374859 COSM2156533 COSM2156534	249	A>V	Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1173631731	250	E>D		No	gnomAD
rs1640719004	250	E>G		No	TOPMed
rs1569965022	250	E>K		No	Ensembl
COSM4823159 COSM4823158	250	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs766263755	251	G>S		No	ExAC TOPMed gnomAD
rs1640719498	253	W>*		No	Ensembl
rs368167619	254	L>F		No	ESP ExAC TOPMed gnomAD
rs368167619	254	L>I		No	ESP ExAC TOPMed gnomAD
rs368167619	254	L>V		No	ESP ExAC TOPMed gnomAD
rs752919461	255	V>L		No	ExAC TOPMed gnomAD
rs752919461	255	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1210758652	256	P>S		No	TOPMed gnomAD
rs1210758652	256	P>T		No	TOPMed gnomAD
TCGA novel	257	I>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs756270156	258	G>S		No	ExAC gnomAD
rs1484269942	259	K>I		No	TOPMed gnomAD
rs1484269942	259	K>R		No	TOPMed gnomAD
COSM6124676 COSM6124677	260	C>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs749326341	260	C>W		No	ExAC TOPMed gnomAD
rs757329498	261	V>A		No	ExAC gnomAD
rs1640721034	261	V>M		No	TOPMed
TCGA novel	262	C>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs746375082	263	S>G		No	ExAC gnomAD
rs1172918635	263	S>R		No	gnomAD
rs772385874	265	G>C		No	ExAC TOPMed gnomAD
rs772385874	265	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs138569134	267	E>K		No	ESP ExAC TOPMed gnomAD
COSM3484884 COSM3484885	268	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3984814 COSM3984813	269	R>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs139777546	269	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs747819394	269	R>W		No	ExAC TOPMed gnomAD
COSM3484887 rs201689882 COSM3484886	270	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA gnomAD
rs1640722621	271	D>E		No	TOPMed
rs76874545	271	D>G		No	Ensembl
rs762414738	273	C>R		No	ExAC TOPMed gnomAD
rs762414738	273	C>S		No	ExAC TOPMed gnomAD
COSM3484889 COSM3484888	274	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs770458620	274	V>G		No	ExAC gnomAD
rs754009354	275	A>D		No	ExAC gnomAD
COSM4029297 COSM4029296	275	A>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1279480547	277	E>D		No	gnomAD
rs1440723185	277	E>K		No	gnomAD
rs762088600	279	G>A		No	ExAC gnomAD
rs1641211110	280	F>L		No	TOPMed
rs1641211200	281	Y>C		No	TOPMed
rs147152756	282	K>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs750491008	283	S>A		No	ExAC gnomAD
COSM459554 COSM459555	283	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1641211553	284	A>G		No	gnomAD
rs759009996	285	P>S		No	ExAC TOPMed gnomAD
rs1405311325	287	D>N		No	TOPMed gnomAD
rs1405311325	287	D>Y		No	TOPMed gnomAD
rs368255315	288	Q>R		No	ESP TOPMed gnomAD
COSM533327 COSM6061499 rs920922969 COSM6061500 COSM533328	289	L>R	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic Ensembl NCI-TCGA
rs752059573	292	R>C		No	ExAC TOPMed gnomAD
rs752059573	292	R>G		No	ExAC TOPMed gnomAD
rs755402558	292	R>H		No	ExAC TOPMed gnomAD
rs752059573	292	R>S		No	ExAC TOPMed gnomAD
rs1641212677	293	C>R		No	TOPMed
rs1641212762	293	C>Y		No	TOPMed
rs1641212841	294	P>H		No	Ensembl
COSM3484892 COSM3484893	294	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs557217944	295	P>S		No	1000Genomes ExAC TOPMed gnomAD
rs557217944	295	P>T		No	1000Genomes ExAC TOPMed gnomAD
rs748953848	296	H>N		No	ExAC TOPMed gnomAD
rs1474704377	296	H>P		No	gnomAD
rs748953848	296	H>Y		No	ExAC TOPMed gnomAD
TCGA novel	297	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs141028919	300	A>S		No	ESP ExAC TOPMed gnomAD
rs141028919	300	A>T		No	ESP ExAC TOPMed gnomAD
rs947558247	301	A>T		No	Ensembl
rs638524	301	A>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs903455856	302	P>L		No	TOPMed gnomAD
rs903455856	302	P>R		No	TOPMed gnomAD
rs746880859	304	A>S		No	ExAC TOPMed gnomAD
rs746880859 COSM679210 COSM679211	304	A>T	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1246802459	305	Q>H		No	TOPMed
rs1641214671	306	A>G		No	TOPMed gnomAD
rs1354882287	306	A>P		No	gnomAD
rs1245880814	311	L>F		No	gnomAD
rs768504842	312	S>C		No	ExAC TOPMed gnomAD
TCGA novel	313	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs776470892	315	R>C		No	ExAC gnomAD
rs761987517 COSM1748207 COSM1748208	315	R>H	urinary_tract [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs1273858169	317	A>T		No	TOPMed gnomAD
rs1570001321	319	D>A		No	Ensembl
COSM1559281 rs765465256 COSM1559282	320	P>L	central_nervous_system [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
COSM679209	320	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1207181815	320	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs56656925 VAR_061292	321	P>L		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1557569561	325	C>S		No	Ensembl
rs1641216854	326	T>N		No	Ensembl
rs929755154 COSM6124674 COSM1501234 COSM1501235 COSM6124675	327	R>W	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs1268297144	330	S>L		No	gnomAD
rs1557571697	331	A>T		No	Ensembl
rs200917073	331	A>V		No	1000Genomes ExAC TOPMed gnomAD
COSM3864715 rs1641291735 COSM3864714	332	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs117363297	334	N>K		No	1000Genomes ExAC TOPMed gnomAD
rs1374109535	336	I>V		No	TOPMed
rs201043307	337	S>C		No	ExAC TOPMed gnomAD
rs201043307	337	S>F		No	ExAC TOPMed gnomAD
rs1641292392	338	S>N		No	Ensembl
rs781208596	338	S>R		No	ExAC gnomAD
rs1362201512	339	V>M		No	TOPMed gnomAD
rs2148252704	340	N>S		No	Ensembl
rs769701249	341	G>W		No	ExAC TOPMed gnomAD
rs1323688249	342	T>A		No	TOPMed gnomAD
rs375912312	342	T>I		No	ESP ExAC TOPMed gnomAD
rs202187898	344	V>L		No	1000Genomes ExAC TOPMed gnomAD
rs774675715	345	T>I		No	ExAC TOPMed gnomAD
rs1641293298	345	T>S		No	gnomAD
rs1333485762	346	L>Q		No	TOPMed gnomAD
rs1227183854	347	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1227183854	347	E>K		No	TOPMed gnomAD
rs571199591	347	E>V		No	1000Genomes ExAC gnomAD
rs1641293774	348	W>G		No	gnomAD
rs1641293856	349	A>P		No	gnomAD
COSM1251355 COSM1251354 rs184229539	349	A>V	oesophagus [Cosmic]	No	cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1641294154	350	P>R		No	TOPMed
rs2148252794	350	P>S		No	Ensembl
rs1052416939	351	P>T		No	Ensembl
rs1238316284	352	L>P		No	gnomAD
rs1641294635	353	D>N		No	gnomAD
rs2148252827	353	D>V		No	Ensembl
rs1641294716	354	P>S		No	Ensembl
rs1009368131	355	G>A		No	TOPMed
rs761081783	356	G>D		No	ExAC TOPMed gnomAD
rs1248963963	357	R>C		No	TOPMed gnomAD
rs373378884	357	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
COSM168754 COSM168753 rs373378884	357	R>L	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1248963963	357	R>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1414232134	359	D>N		No	TOPMed gnomAD
rs1414232134	359	D>Y		No	TOPMed gnomAD
rs762631777	360	I>V		No	ExAC TOPMed gnomAD
rs1641295491	362	Y>C		No	Ensembl
COSM6124673 COSM6124672	362	Y>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs766048193	363	N>D		No	ExAC TOPMed gnomAD
TCGA novel	363	N>K	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs766048193	363	N>Y		No	ExAC TOPMed gnomAD
rs866837685	364	A>V		No	Ensembl
rs369589341	365	V>M		No	ESP ExAC TOPMed gnomAD
rs1408724603	366	C>R		No	TOPMed gnomAD
COSM1559283 COSM42641 rs373048699	367	R>C	central_nervous_system [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs755985438	367	R>H		No	ExAC TOPMed gnomAD
rs777753788	368	R>C		No	ExAC TOPMed gnomAD
rs1311483721	368	R>H		No	TOPMed gnomAD
rs1322711881	369	C>*		No	gnomAD
rs1641297624	371	W>*		No	gnomAD
rs749128937	371	W>R		No	ExAC TOPMed gnomAD
TCGA novel	372	A>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1277844699	372	A>G		No	Ensembl
TCGA novel	372	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1250156610	372	A>T		No	TOPMed gnomAD
rs770802540	373	L>P		No	ExAC gnomAD
rs779291992	374	S>I		No	ExAC gnomAD
rs752982112	375	R>C		No	TOPMed gnomAD
rs201818748	375	R>H		No	ESP ExAC TOPMed gnomAD
rs201818748	375	R>L		No	ESP ExAC TOPMed gnomAD
rs1257057563	377	E>*		No	TOPMed gnomAD
rs1257057563	377	E>K		No	TOPMed gnomAD
rs918958008	378	A>V		No	Ensembl
rs1641298817	380	G>R		No	TOPMed
rs1388058227	382	G>A		No	TOPMed gnomAD
rs1388058227	382	G>D		No	TOPMed gnomAD
rs769118581 COSM166548 COSM166547	382	G>S	Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs372845574	383	T>N		No	ESP ExAC TOPMed gnomAD
rs1172302228	384	R>C		No	TOPMed gnomAD
rs762185124	384	R>H		No	ExAC TOPMed gnomAD
rs571969130	388	Q>L		No	1000Genomes ExAC TOPMed gnomAD
rs759101185	390	T>A		No	ExAC TOPMed gnomAD
rs767106998	391	S>R		No	ExAC TOPMed gnomAD
rs1379388674	391	S>T		No	gnomAD
rs755612112	393	V>G		No	ExAC gnomAD
COSM679207	393	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1328150773	393	V>M		No	TOPMed gnomAD
rs1557572182	396	S>I		No	Ensembl
COSM4401205 COSM4401204	399	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs757122925	400	A>D		No	ExAC TOPMed gnomAD
rs1350698742	401	N>K		No	gnomAD
rs2148253193	402	L>M		No	Ensembl
rs751900514	404	A>T		No	TOPMed gnomAD
rs1459701561	404	A>V		No	gnomAD
rs1641301722	405	H>Y		No	TOPMed
rs377088112	408	Y>*		No	ESP ExAC TOPMed gnomAD
rs1553147565	408	Y>F		No	Ensembl
rs778846333	408	Y>H		No	ExAC TOPMed gnomAD
rs1039875189	409	S>Y		No	Ensembl
rs1189153117	410	F>I		No	TOPMed gnomAD
rs1189153117	410	F>L		No	TOPMed gnomAD
rs1391885924	412	I>F		No	gnomAD
rs758525658	412	I>M		No	ExAC TOPMed gnomAD
rs780221031	413	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs780221031	413	E>Q		No	ExAC TOPMed gnomAD
rs1274680269	414	A>V		No	TOPMed gnomAD
rs539448650	415	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs768670915	416	N>K		No	ExAC TOPMed gnomAD
rs1467309835	416	N>S		No	TOPMed gnomAD
COSM1205488 rs557614302 COSM1205487	418	V>M	large_intestine [Cosmic]	No	cosmic curated 1000Genomes TOPMed gnomAD
rs543209822	420	D>H		No	1000Genomes ExAC TOPMed gnomAD
rs543209822	420	D>N		No	1000Genomes ExAC TOPMed gnomAD
rs1557572372	421	L>P		No	Ensembl
rs1641304960	422	S>G		No	TOPMed
rs1219125096	423	P>R		No	gnomAD
rs879209686	424	E>A		No	Ensembl
rs759275181	424	E>K		No	ExAC TOPMed gnomAD
rs759275181	424	E>Q		No	ExAC TOPMed gnomAD
rs1326774605	426	R>C		No	TOPMed gnomAD
rs1326774605	426	R>G		No	TOPMed gnomAD
rs767109730	426	R>H		No	ExAC TOPMed gnomAD
rs767109730	426	R>L		No	ExAC TOPMed gnomAD
rs775160955	427	R>G		No	ExAC TOPMed gnomAD
rs370118102	427	R>L		No	ESP ExAC TOPMed gnomAD
rs370118102	427	R>Q		No	ESP ExAC TOPMed gnomAD
rs775160955	427	R>W		No	ExAC TOPMed gnomAD
rs2148253472	428	A>S		No	Ensembl
rs765172041	429	A>T		No	ExAC TOPMed gnomAD
rs758170369	430	V>G		No	ExAC gnomAD
rs1458128053	431	V>A		No	gnomAD
rs1458128053	431	V>G		No	gnomAD
rs1208835088	431	V>I		No	TOPMed
rs150196251	432	N>D		No	ESP ExAC TOPMed gnomAD
rs1436470617	433	I>N		No	gnomAD
rs1436470617	433	I>T		No	gnomAD
rs755050279	433	I>V		No	ExAC TOPMed gnomAD
COSM4927537 COSM4927536	434	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs201286524	435	T>M		No	1000Genomes ExAC TOPMed gnomAD
rs1019481620	436	N>S		No	TOPMed gnomAD
rs1019481620	436	N>T		No	TOPMed gnomAD
rs1016134236	437	Q>H		No	Ensembl
rs1330123469	438	A>S		No	TOPMed gnomAD
rs1330123469	438	A>T		No	TOPMed gnomAD
rs780557192	439	A>G		No	ExAC TOPMed gnomAD
rs780557192	439	A>V		No	ExAC TOPMed gnomAD
rs970788472	440	P>L		No	TOPMed gnomAD
rs970788472	440	P>R		No	TOPMed gnomAD
rs1233277139	440	P>S		No	gnomAD
rs1227374950	441	S>F		No	gnomAD
rs1641423318	442	Q>E		No	TOPMed
rs1269226681	442	Q>R		No	gnomAD
rs1641423636	444	V>A		No	TOPMed
rs2295021 VAR_022107	444	V>M		No	UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs770292834	447	R>C		No	ExAC gnomAD
rs770292834	447	R>G		No	ExAC gnomAD
rs774280016	447	R>H		No	ExAC TOPMed gnomAD
rs1641424230	448	Q>R		No	TOPMed
rs1364164366	450	R>G		No	gnomAD
rs374661974	450	R>Q		No	ESP ExAC TOPMed gnomAD
COSM905219 rs1364164366	450	R>W	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs1641424777	451	A>T		No	TOPMed gnomAD
rs775244487	451	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1641425184	453	Q>E		No	Ensembl
rs1570018365	454	T>A		No	Ensembl
rs1570018365	454	T>P		No	Ensembl
rs1304483173	455	S>G		No	gnomAD
rs1557576133	455	S>I		No	Ensembl
rs374046323	456	V>I		No	1000Genomes ESP ExAC TOPMed gnomAD
rs374046323	456	V>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1288519265	457	S>L		No	TOPMed gnomAD
rs1288519265	457	S>W		No	TOPMed gnomAD
rs867788111	459	L>M		No	gnomAD
rs761966259	461	Q>H		No	ExAC TOPMed
rs1243010815	461	Q>R		No	TOPMed gnomAD
rs77608596	462	E>G		No	ExAC gnomAD
rs765337661	462	E>K		No	ExAC
rs758958503	463	P>A		No	ExAC gnomAD
rs1641426812	463	P>L		No	Ensembl
rs758958503	463	P>S		No	ExAC gnomAD
rs777499719	464	E>G		No	ExAC
rs755252711	464	E>K		No	ExAC TOPMed gnomAD
rs755252711	464	E>Q		No	ExAC TOPMed gnomAD
rs748829132	465	Q>H		No	ExAC TOPMed gnomAD
rs778380990	466	P>L		No	ExAC gnomAD
rs778380990	466	P>Q		No	ExAC gnomAD
rs778380990	466	P>R		No	ExAC gnomAD
rs756827993	466	P>S		No	ExAC TOPMed gnomAD
rs771968074	467	N>S		No	ExAC gnomAD
rs932518395	468	G>S		No	Ensembl
rs746841294	469	I>V		No	ExAC TOPMed gnomAD
rs1425666628	470	I>T		No	gnomAD
TCGA novel	472	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1425283677	472	E>Q		No	gnomAD
rs768277316	473	Y>*		No	ExAC gnomAD
rs1641428976	474	E>*		No	TOPMed gnomAD
rs1641429067	474	E>V		No	TOPMed gnomAD
rs1641429204	475	I>N		No	TOPMed
rs1641429272	476	K>M		No	TOPMed
TCGA novel	478	Y>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs761932406	479	E>K		No	ExAC TOPMed gnomAD
COSM905220	483	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	483	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1409847300	483	E>K		No	TOPMed gnomAD
rs1289866171	483	E>V		No	TOPMed gnomAD
rs751569232	484	M>I		No	ExAC gnomAD
rs779424856	484	M>R		No	ExAC gnomAD
rs199567884	485	Q>E		No	1000Genomes
rs754845150	485	Q>H		No	ExAC TOPMed gnomAD
rs781079148	486	S>R		No	ExAC gnomAD
rs142120877	486	S>T		No	ESP ExAC TOPMed gnomAD
rs1641433435	487	Y>*		No	TOPMed
rs1641433315	487	Y>H		No	gnomAD
rs1302396548	489	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs563025239	489	T>S		No	1000Genomes ExAC TOPMed gnomAD
rs1641433783	490	L>F		No	TOPMed
rs149335835	491	K>R		No	ESP ExAC
rs1557576512	492	A>T		No	Ensembl
TCGA novel rs1641434044	492	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs143432921	493	V>I		No	ESP ExAC TOPMed gnomAD
rs2148259984	494	T>I		No	Ensembl
rs962345382	499	V>I		No	TOPMed gnomAD
TCGA novel	500	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs746428281	501	G>R		No	ExAC TOPMed gnomAD
rs746428281	501	G>S		No	ExAC TOPMed gnomAD
rs772488857	503	K>R		No	ExAC TOPMed gnomAD
rs772488857	503	K>T		No	ExAC TOPMed gnomAD
rs761039847	504	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1365604075	504	P>S		No	gnomAD
rs1325977423	505	G>S		No	gnomAD
rs1641435042	506	T>I		No	Ensembl
rs182997024 COSM4029300	507	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs182997024	507	R>G		No	1000Genomes ExAC TOPMed gnomAD
rs1328139113	507	R>H		No	TOPMed gnomAD
rs182997024	507	R>S		No	1000Genomes ExAC TOPMed gnomAD
rs55964751	508	Y>*		No	1000Genomes ESP ExAC TOPMed gnomAD
rs955485235	508	Y>C		No	Ensembl
rs767371482	509	V>L		No	ExAC TOPMed gnomAD
rs767371482	509	V>M		No	ExAC TOPMed gnomAD
rs1368378008	510	F>L		No	TOPMed
rs2148260104	511	Q>H		No	1000Genomes
rs756044795	512	V>I		No	ExAC TOPMed gnomAD
rs777700778	513	R>*		No	ExAC TOPMed gnomAD
rs552762462	513	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs1481247681	514	A>T		No	gnomAD
rs1156503379	514	A>V		No	gnomAD
rs757390422	515	R>C		No	ExAC TOPMed gnomAD
rs757390422	515	R>G		No	ExAC TOPMed gnomAD
rs779157641	515	R>H		No	ExAC gnomAD
rs1176745302	516	T>A		No	gnomAD
rs1436355220	517	S>L		No	gnomAD
rs1303892334	519	G>D		No	TOPMed gnomAD
rs1303892334	519	G>V		No	TOPMed gnomAD
rs772130793	520	C>Y		No	ExAC TOPMed gnomAD
rs1408235070	522	R>C		No	TOPMed gnomAD
rs1408235070	522	R>G		No	TOPMed gnomAD
COSM1205485 rs148500309	522	R>H	large_intestine [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs1408235070	522	R>S		No	TOPMed gnomAD
rs1272570562	525	Q>*		No	TOPMed gnomAD
rs769067119	525	Q>H		No	ExAC TOPMed gnomAD
rs149084883	525	Q>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1641438176	526	A>T		No	TOPMed
rs1319904657	526	A>V		No	gnomAD
TCGA novel rs762703677	527	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA ExAC TOPMed gnomAD
rs776953716	527	M>T		No	ExAC gnomAD
rs1220724691	527	M>V		No	gnomAD
rs1641438599	529	V>L		No	Ensembl
rs560791662	532	G>R		No	1000Genomes ExAC TOPMed gnomAD
rs771134902	533	K>I		No	ExAC TOPMed gnomAD
rs1053441876	534	P>T		No	TOPMed gnomAD
rs1327893763	535	R>Q		No	TOPMed gnomAD
rs753717948	535	R>W		No	ExAC TOPMed gnomAD
rs139374448	536	P>A		No	1000Genomes ExAC TOPMed gnomAD
rs946665358	536	P>H		No	TOPMed gnomAD
rs764034102	537	R>C		No	ExAC TOPMed gnomAD
rs61751024	537	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs61751024	537	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs893984706	538	Y>C		No	TOPMed gnomAD
rs780142938	538	Y>D		No	ExAC TOPMed gnomAD
rs780142938	538	Y>H		No	ExAC TOPMed gnomAD
TCGA novel	539	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1641484851	540	T>I		No	TOPMed
rs1641484922	541	R>G		No	TOPMed
TCGA novel	542	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1223729255	542	T>I		No	TOPMed gnomAD
rs1223729255	542	T>N		No	TOPMed gnomAD
rs939191026	542	T>S		No	TOPMed gnomAD
rs751666192	543	I>M		No	ExAC TOPMed gnomAD
rs1401461753	543	I>V		No	TOPMed gnomAD
rs754998997 COSM1667238	545	W>*	large_intestine [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs754998997	545	W>C		No	ExAC TOPMed gnomAD
rs1009706519	546	I>M		No	TOPMed gnomAD
rs1557578304	548	L>P		No	gnomAD
rs138090615	549	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs1196903163	550	L>F		No	TOPMed gnomAD
rs1196903163	550	L>V		No	TOPMed gnomAD
rs770117043	552	T>A		No	ExAC gnomAD
rs778181369	552	T>K		No	ExAC TOPMed gnomAD
rs778181369	552	T>M		No	ExAC TOPMed gnomAD
rs745551161	553	G>S		No	ExAC TOPMed gnomAD
rs202042511	555	V>L		No	1000Genomes ExAC TOPMed gnomAD
rs202042511	555	V>M		No	1000Genomes ExAC TOPMed gnomAD
rs760276645	556	V>L		No	ExAC gnomAD
rs1321075335	557	L>I		No	gnomAD
rs1641487298	557	L>P		No	TOPMed
rs1641487456	558	L>P		No	TOPMed
rs200214765	559	L>F		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1641487714	560	L>P		No	Ensembl
rs973512254	562	I>V		No	TOPMed
rs1641488103	563	C>F		No	gnomAD
rs776497408	563	C>G		No	ExAC TOPMed gnomAD
TCGA novel	563	C>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1641488269	564	K>E		No	Ensembl
rs1641488348	564	K>R		No	TOPMed
TCGA novel	566	R>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
rs759735882	567	H>R		No	ExAC TOPMed gnomAD
rs774616715	567	H>Y		No	ExAC gnomAD
COSM3789612	568	C>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs767538683	568	C>Y		No	ExAC gnomAD
rs1164990116	571	S>N		No	gnomAD
COSM4029301	573	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1298332967	574	F>C		No	TOPMed gnomAD
rs756098365	574	F>V		No	ExAC TOPMed gnomAD
rs764676638	576	D>N		No	ExAC gnomAD
rs754330833	577	S>L		No	ExAC gnomAD
rs1641511092	577	S>P		No	Ensembl
rs370682222	578	D>E		No	ESP ExAC gnomAD
rs531926893	579	E>K		No	ExAC gnomAD
rs531926893	579	E>Q		No	ExAC gnomAD
rs754645453	581	K>Q		No	ExAC gnomAD
rs138590921	581	K>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs138590921	581	K>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs374833210	582	M>L		No	ESP ExAC TOPMed gnomAD
rs769125415	582	M>T		No	ExAC
rs901903397	583	H>Q		No	TOPMed gnomAD
rs773202551	583	H>Y		No	ExAC TOPMed gnomAD
rs2148263800	584	Y>C		No	Ensembl
rs749212078	585	Q>H		No	ExAC gnomAD
rs376737470	585	Q>P		No	TOPMed gnomAD
rs376737470	585	Q>R		No	TOPMed gnomAD
COSM3864716	587	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1200501191	588	Q>E		No	gnomAD
rs774104397	589	A>T		No	ExAC gnomAD
rs761940802	589	A>V		No	ExAC gnomAD
rs1472161891	590	P>H		No	TOPMed
rs765867803	590	P>T		No	ExAC TOPMed gnomAD
rs1221309032	591	P>Q		No	gnomAD
rs1221309032	591	P>R		No	gnomAD
rs1641545402	595	L>R		No	TOPMed
TCGA novel	597	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs763379733	598	H>R		No	ExAC gnomAD
rs766646724	599	H>L		No	ExAC TOPMed
rs766646724	599	H>R		No	ExAC TOPMed
rs202243952	600	P>A		No	ExAC TOPMed gnomAD
TCGA novel	600	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs202243952	600	P>S		No	ExAC TOPMed gnomAD
rs753369755	601	P>L		No	ExAC TOPMed gnomAD
TCGA novel	601	P>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs753369755	601	P>R		No	ExAC TOPMed gnomAD
rs1396986101	602	G>E		No	gnomAD
COSM3864717	603	K>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs745792239	603	K>N		No	ExAC TOPMed gnomAD
rs1641546750	604	L>F		No	Ensembl
rs1367739182	604	L>P		No	gnomAD
rs1641547055	606	E>D		No	Ensembl
rs1641546990	606	E>G		No	Ensembl
rs144329757	607	P>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs144329757	607	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs771963113	607	P>T		No	ExAC TOPMed gnomAD
rs1339995453	608	Q>*		No	TOPMed
rs1311825398	608	Q>H		No	TOPMed
rs141532503	608	Q>L		No	ESP ExAC TOPMed gnomAD
TCGA novel rs768788331	609	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC gnomAD NCI-TCGA
rs1015313398	610	Y>C		No	gnomAD
rs776940252	611	A>E		No	ExAC TOPMed gnomAD
rs776940252	611	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
VAR_024514 rs999765	612	E>Q		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1483434281	613	P>L		No	Ensembl
rs763353844	613	P>S		No	ExAC TOPMed gnomAD
rs766808717	614	H>Q		No	ExAC TOPMed gnomAD
rs1570028542	615	T>A		No	Ensembl
rs2148265421	615	T>N		No	Ensembl
rs1232730345	616	Y>H		No	gnomAD
rs371894783	617	E>K		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1641549355	618	E>D		No	TOPMed
rs866840934	618	E>K		No	Ensembl
rs934020406	619	P>L		No	TOPMed
rs753426993	620	G>V		No	ExAC TOPMed gnomAD
COSM1284757	621	R>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs756831723	621	R>P		No	ExAC TOPMed gnomAD
rs756831723	621	R>Q		No	ExAC TOPMed gnomAD
rs1164315190	621	R>W		No	TOPMed gnomAD
rs758235140	622	A>T		No	ExAC TOPMed gnomAD
rs1641550115	622	A>V		No	TOPMed gnomAD
rs1333072744	624	R>C		No	TOPMed gnomAD
COSM239722 rs746799254	624	R>H	Variant assessed as Somatic; MODERATE impact. prostate [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs754761927	625	S>G		No	ExAC gnomAD
rs1357841927	627	T>A		No	TOPMed gnomAD
rs781568823	628	R>G		No	ExAC TOPMed gnomAD
rs748375751	628	R>Q		No	ExAC TOPMed gnomAD
rs781568823	628	R>W		No	ExAC TOPMed gnomAD
TCGA novel	629	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs376201963	629	E>K		No	ESP ExAC TOPMed gnomAD
rs376201963	629	E>Q		No	ESP ExAC TOPMed gnomAD
rs369284774	630	I>M		No	ESP ExAC TOPMed gnomAD
rs1197301453	630	I>S		No	TOPMed gnomAD
rs771365576	631	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1461270305	632	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1239494708	633	S>C		No	TOPMed
COSM905221	634	R>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1641551876	636	H>P		No	TOPMed
rs774864430	637	I>M		No	ExAC TOPMed gnomAD
rs1184750288	637	I>V		No	gnomAD
rs567750244	638	E>*		No	ExAC TOPMed gnomAD
rs567750244	638	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs373638442	641	I>V		No	ESP ExAC TOPMed gnomAD
rs536702821	642	G>S		No	ExAC TOPMed gnomAD
rs1641552595	643	S>C		No	Ensembl
rs1172572081	643	S>P		No	gnomAD
rs533721836	645	D>N		No	1000Genomes ExAC TOPMed gnomAD
rs533721836	645	D>Y		No	1000Genomes ExAC TOPMed gnomAD
rs1641559376	646	S>A		No	Ensembl
rs1468602131	647	G>R		No	TOPMed gnomAD
rs199682979	649	V>F		No	Ensembl
rs757343485	650	C>G		No	ExAC TOPMed gnomAD
rs757343485	650	C>R		No	ExAC TOPMed gnomAD
rs1021905173	651	Y>*		No	TOPMed gnomAD
rs779031605	652	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs200774719	655	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs746416885	655	R>W		No	ExAC TOPMed gnomAD
rs1641560789	656	V>L		No	TOPMed
rs1334346160	657	P>L		No	gnomAD
rs1641560977	657	P>S		No	gnomAD
rs747383112	660	R>P		No	ExAC TOPMed gnomAD
rs747383112	660	R>Q		No	ExAC TOPMed gnomAD
rs1239030664	660	R>W		No	TOPMed gnomAD
COSM3750977	661	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs772805814	661	D>H		No	ExAC gnomAD
rs762652898	661	D>V		No	ExAC TOPMed gnomAD
rs770394863	662	V>L		No	ExAC TOPMed gnomAD
rs770394863	662	V>M		No	ExAC TOPMed gnomAD
rs960442770	664	V>L		No	TOPMed gnomAD
rs960442770	664	V>M		No	TOPMed gnomAD
rs368786183	666	I>L		No	ESP ExAC TOPMed gnomAD
rs752615573	666	I>M		No	ExAC gnomAD
rs2148266081	667	K>E		No	Ensembl
rs760614050	667	K>T		No	ExAC gnomAD
rs1387248062	669	L>F		No	gnomAD
COSM4029303	671	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs757472636	672	G>C		No	ExAC TOPMed gnomAD
rs757472636	672	G>S		No	ExAC TOPMed gnomAD
rs1641562733	672	G>V		No	Ensembl
rs1458154418	673	Y>*		No	gnomAD
rs750521094	674	T>K		No	ExAC TOPMed gnomAD
rs750521094	674	T>M		No	ExAC TOPMed gnomAD
rs373953943	675	E>D		No	ESP ExAC TOPMed gnomAD
COSM1339980	675	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs562829959	679	R>L		No	1000Genomes ExAC TOPMed gnomAD
rs562829959	679	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs557674245	679	R>W		No	ExAC TOPMed gnomAD
rs1570030034	680	D>G		No	Ensembl
rs770640699	684	E>K		No	ExAC TOPMed gnomAD
rs1360246232	685	A>S		No	TOPMed gnomAD
TCGA novel	685	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs201485535	685	A>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1570030099	686	S>A		No	Ensembl
rs1570030099	686	S>P		No	Ensembl
rs1641564346	687	I>T		No	TOPMed
rs775630538	688	M>L		No	ExAC TOPMed gnomAD
rs775630538	688	M>V		No	ExAC TOPMed gnomAD
rs760643869 COSM905222	689	G>R	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs2148266209	689	G>V		No	Ensembl
rs763837839	692	D>N		No	ExAC TOPMed gnomAD
rs763837839	692	D>Y		No	ExAC TOPMed gnomAD
rs1166522062	693	H>R		No	gnomAD
rs542047673	694	P>S		No	1000Genomes ExAC gnomAD
rs77067006	696	I>T		No	Ensembl
rs765456520	696	I>V		No	ExAC gnomAD
rs1641565476	697	I>S		No	gnomAD
rs141165537	698	R>C		No	1000Genomes ESP ExAC TOPMed gnomAD
rs141165537	698	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM3400446 rs758537106	698	R>H	Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs758537106	698	R>L		No	ExAC TOPMed gnomAD
rs758537106	698	R>P		No	ExAC TOPMed gnomAD
rs766433025	700	E>K		No	ExAC TOPMed gnomAD
rs766433025	700	E>Q		No	ExAC TOPMed gnomAD
rs1383674516	702	V>F		No	gnomAD
rs1383674516	702	V>I		No	gnomAD
rs755476945	703	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs528574353	705	R>C		No	1000Genomes ExAC TOPMed gnomAD
rs528574353	705	R>G		No	1000Genomes ExAC TOPMed gnomAD
rs140243523	705	R>H		No	ESP ExAC TOPMed gnomAD
rs140243523	705	R>L		No	ESP ExAC TOPMed gnomAD
rs769570525	706	G>D		No	ExAC TOPMed gnomAD
rs1258547318	706	G>S		No	gnomAD
rs62642537 RCV000964803	707	R>C		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs769624500 COSM3400447	707	R>H	Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1300070575	709	A>T		No	gnomAD
rs1363969002	709	A>V		No	gnomAD
rs1641576315	711	I>F		No	Ensembl
rs541620093	711	I>T		No	1000Genomes ExAC TOPMed gnomAD
rs149392840	712	V>M		No	ESP ExAC TOPMed gnomAD
rs771163012	714	E>G		No	ExAC gnomAD
rs1220926809	715	Y>C		No	TOPMed gnomAD
rs1220926809	715	Y>F		No	TOPMed gnomAD
rs1641576932	716	M>V		No	TOPMed
TCGA novel	717	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs146955063	719	G>C		No	1000Genomes ExAC TOPMed gnomAD
rs146955063	719	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1641577428	720	S>F		No	TOPMed
rs1641577347	720	S>P		No	TOPMed gnomAD
rs753297349	721	L>P		No	ExAC
COSM679200	722	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1570031346	723	T>A		No	Ensembl
rs1641577690	723	T>I		No	Ensembl
rs1570031346	723	T>P		No	Ensembl
rs1641577823	725	L>P		No	TOPMed
rs755562643	727	T>A		No	ExAC TOPMed gnomAD
rs971991308	729	D>N		No	gnomAD
rs778542762	730	G>R		No	ExAC TOPMed gnomAD
rs1442302244	731	Q>*		No	gnomAD
rs1442302244	731	Q>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1210934249	734	I>M		No	gnomAD
rs1231061944	734	I>S		No	TOPMed
rs1641595652	734	I>V		No	TOPMed
rs1641595988	735	M>I		No	TOPMed
rs200018942	735	M>V		No	1000Genomes ExAC TOPMed gnomAD
rs980221016	736	Q>E		No	gnomAD
rs1641596386	736	Q>H		No	TOPMed
rs2148267710	736	Q>P		No	Ensembl
rs1570032915	738	V>M		No	Ensembl
rs1641596564	739	G>S		No	TOPMed gnomAD
rs371556187	740	M>I		No	ESP TOPMed gnomAD
rs1469581961	740	M>T		No	TOPMed
rs936854890	742	R>K		No	TOPMed gnomAD
rs138538362	743	G>R		No	ESP TOPMed gnomAD
rs1403843416	744	V>A		No	gnomAD
rs1175240210	744	V>M		No	TOPMed
TCGA novel rs1641597315	746	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs200648943	747	G>S		No	ExAC gnomAD
rs1360380857	748	M>T		No	gnomAD
rs147240669	749	R>C		No	ESP ExAC TOPMed gnomAD
rs201964877	749	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1341561708	750	Y>C		No	gnomAD
rs552850440	751	L>F		No	1000Genomes ExAC gnomAD
TCGA novel	751	L>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs552850440	751	L>V		No	1000Genomes ExAC gnomAD
rs1051630007	752	S>L		No	Ensembl
rs763326604	753	D>E		No	ExAC gnomAD
rs767089293	754	L>M		No	ExAC TOPMed gnomAD
rs1570033099	754	L>P		No	Ensembl
rs767089293	754	L>V		No	ExAC TOPMed gnomAD
rs1641599161	755	G>D		No	TOPMed gnomAD
rs752279731	756	Y>C		No	ExAC gnomAD
rs1641599587 COSM4029306	759	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs757176752	759	R>Q		No	ExAC TOPMed gnomAD
rs2148267857	760	D>H		No	Ensembl
TCGA novel	760	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1641599810	761	L>P		No	Ensembl
rs1641599886	762	A>T		No	TOPMed
rs149930866	763	A>S		No	ESP ExAC TOPMed gnomAD
rs149930866	763	A>T		No	ESP ExAC TOPMed gnomAD
rs2148267884	763	A>V		No	Ensembl
rs531451396	764	R>C		No	1000Genomes ExAC TOPMed gnomAD
rs747216998	764	R>H		No	ExAC TOPMed gnomAD
rs747216998	764	R>L		No	ExAC TOPMed gnomAD
rs768903431	765	N>I		No	ExAC gnomAD
rs768903431	765	N>S		No	ExAC gnomAD
rs370473123	766	V>F		No	ESP ExAC TOPMed gnomAD
rs370473123	766	V>I		No	ESP ExAC TOPMed gnomAD
rs568027987	768	V>A		No	1000Genomes ExAC TOPMed gnomAD
rs568027987	768	V>G		No	1000Genomes ExAC TOPMed gnomAD
rs147123754	768	V>I		No	1000Genomes ExAC gnomAD
rs1641601177	769	D>G		No	gnomAD
rs1277091018	770	S>N		No	gnomAD
rs1257012529	771	N>K		No	gnomAD
TCGA novel	771	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1641601631	775	K>N		No	TOPMed
rs1239542886	776	V>M		No	gnomAD
rs1165586714	777	S>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1165586714	777	S>F		No	TOPMed gnomAD
rs1557582337	779	F>I		No	Ensembl
rs1641602497	780	G>E		No	Ensembl
rs753371979	780	G>R		No	ExAC TOPMed gnomAD
rs750373572	783	R>P		No	ExAC TOPMed gnomAD
COSM1339981 rs750373572	783	R>Q	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs202070589	783	R>W		No	ESP ExAC TOPMed gnomAD
rs1641603118	784	V>M		No	TOPMed
rs779969785	787	D>A		No	ExAC
rs779969785	787	D>G		No	ExAC
rs758182002	787	D>Y		No	ExAC gnomAD
rs1641603648	788	D>G		No	TOPMed
rs755279880	788	D>N		No	ExAC TOPMed gnomAD
rs1641603782	789	P>A		No	gnomAD
rs369475595	789	P>L		No	ESP ExAC TOPMed gnomAD
TCGA novel rs2148268075	790	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs1334522181	792	A>S		No	TOPMed gnomAD
TCGA novel	793	Y>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1436163411	794	T>A		No	gnomAD
TCGA novel	794	T>G	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1641604711	794	T>I		No	gnomAD
rs771326608	795	T>A		No	ExAC gnomAD
rs774731033	796	T>K		No	ExAC TOPMed gnomAD
rs774731033	796	T>M		No	ExAC TOPMed gnomAD
rs537363813	797	G>D		No	1000Genomes ExAC TOPMed gnomAD
rs150954894	797	G>S		No	ESP ExAC TOPMed gnomAD
rs758807841	798	G>R		No	ExAC TOPMed gnomAD
rs780431554	799	K>E		No	ExAC gnomAD
rs1570039820	800	I>N		No	TOPMed
rs1570039820	800	I>T		No	TOPMed
rs769507116	803	R>C		No	ExAC TOPMed gnomAD
rs368283503	803	R>H		No	ESP ExAC TOPMed gnomAD
rs368283503	803	R>L		No	ESP ExAC TOPMed gnomAD
rs372280342 COSM1339982	805	T>M	large_intestine [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs1175953678	809	A>T		No	gnomAD
rs915112154	810	I>F		No	TOPMed gnomAD
rs555665976	811	A>T		No	1000Genomes ExAC TOPMed gnomAD
rs1047491791	811	A>V		No	Ensembl
rs775378376	813	R>C		No	1000Genomes ExAC TOPMed gnomAD
rs760332050	813	R>H		No	ExAC TOPMed gnomAD
rs760332050	813	R>L		No	ExAC TOPMed gnomAD
rs1390787117	815	F>L		No	TOPMed gnomAD
rs1300462328	816	S>F		No	gnomAD
rs757340105	817	S>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs755230170	817	S>L		No	ExAC TOPMed gnomAD
rs374741939	817	S>P		No	ESP ExAC TOPMed gnomAD
COSM3484900 rs939029576	818	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed
rs750964170	820	D>N		No	ExAC TOPMed gnomAD
rs758930799	820	D>V		No	ExAC TOPMed gnomAD
rs1041225432	821	V>A		No	Ensembl
rs747411921	821	V>L		No	ExAC TOPMed gnomAD
rs747411921	821	V>M		No	ExAC TOPMed gnomAD
rs1641699890	822	W>C		No	TOPMed
COSM3400448 rs1641699821	822	W>R	Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated TOPMed
rs1641700202	825	G>D		No	TOPMed
rs369148933	825	G>S		No	ESP ExAC TOPMed gnomAD
rs72651352	826	V>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1346788152	828	M>I		No	gnomAD
rs1160657874	828	M>T		No	TOPMed gnomAD
rs1641700702	829	W>*		No	TOPMed
rs1456223293 COSM1756864	830	E>K	urinary_tract [Cosmic]	No	cosmic curated gnomAD
rs1368228241	831	V>M		No	gnomAD
rs1426560003	833	A>G		No	TOPMed
COSM4029308	833	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1570040341	834	Y>C		No	Ensembl
rs144705335	837	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs201817606	837	R>W		No	1000Genomes ExAC TOPMed gnomAD
rs372238663	838	P>L		No	ESP TOPMed gnomAD
rs1162167276	839	Y>H		No	TOPMed gnomAD
rs1162167276	839	Y>N		No	TOPMed gnomAD
TCGA novel rs768326430	840	W>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA ExAC gnomAD
rs2148272592	844	N>Y		No	Ensembl
rs761988321	845	R>L		No	ExAC TOPMed gnomAD
rs761988321	845	R>Q		No	ExAC TOPMed gnomAD
rs569320402 COSM905225	845	R>W	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1641706026	848	I>V		No	gnomAD
rs1009623594	849	S>T		No	TOPMed gnomAD
rs1570040780	850	S>F		No	TOPMed
rs1216823619	851	V>M		No	gnomAD
rs1441885608	853	E>D		No	gnomAD
COSM679199	855	Y>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1570040814	855	Y>D		No	TOPMed
rs1570040814 COSM1559284	855	Y>N	central_nervous_system [Cosmic]	No	cosmic curated TOPMed
rs146743212	856	R>C		No	ESP ExAC TOPMed gnomAD
RCV000785719 rs149877319	856	R>H		No	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs149877319	856	R>L		No	ESP ExAC TOPMed gnomAD
rs2148272841	857	L>M		No	Ensembl
rs1336826933	857	L>Q		No	gnomAD
rs1191247338 COSM3864718	858	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs749447607	858	P>S		No	ExAC TOPMed gnomAD
rs200796590	859	A>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs200796590	859	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs374551936	860	P>A		No	ESP ExAC TOPMed gnomAD
VAR_042158	860	P>L	a metastatic melanoma sample; somatic mutation [UniProt]	No	UniProt
rs374551936 COSM1339983	860	P>S	large_intestine [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs374551936	860	P>T		No	ESP ExAC TOPMed gnomAD
rs35887233	861	M>I		No	ExAC TOPMed gnomAD
rs776137702	861	M>L		No	ExAC TOPMed gnomAD
rs567663699	861	M>T		No	1000Genomes ExAC TOPMed gnomAD
rs776137702	861	M>V		No	ExAC TOPMed gnomAD
rs367752791	865	H>Q		No	ESP ExAC TOPMed gnomAD
rs1183460086	865	H>Y		No	TOPMed gnomAD
rs766004176	866	A>T		No	ExAC TOPMed gnomAD
rs1235385455	866	A>V		No	TOPMed gnomAD
rs1641708541	867	L>P		No	Ensembl
COSM6124671	868	H>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs751041267	868	H>Y		No	ExAC gnomAD
rs1282486492	871	M>I		No	gnomAD
rs781170423	871	M>R		No	ExAC gnomAD
rs781170423	871	M>T		No	ExAC gnomAD
rs1641708978	872	L>V		No	TOPMed
rs1472297861	873	D>A		No	gnomAD
rs755951383	873	D>N		No	ExAC TOPMed gnomAD
rs777512975	874	C>S		No	ExAC gnomAD
rs749071269	875	W>*		No	ExAC gnomAD
rs1307708916	875	W>G		No	TOPMed
rs1164998225	876	H>P		No	gnomAD
rs950616882	877	K>E		No	TOPMed
rs1195008074	877	K>R		No	TOPMed gnomAD
rs771071426	878	D>G		No	ExAC gnomAD
TCGA novel	879	R>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs146856523	879	R>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs146856523	879	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs147803148	879	R>W		No	ESP ExAC TOPMed gnomAD
rs761229579	880	A>T		No	ExAC TOPMed gnomAD
rs764652650 COSM1743271	880	A>V	biliary_tract Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1402831345	881	Q>P		No	TOPMed gnomAD
rs765954947	882	R>Q		No	ExAC TOPMed gnomAD
rs2148273057	882	R>W		No	Ensembl
rs1331042657	883	P>R		No	gnomAD
rs751222767	884	R>C		No	ExAC TOPMed gnomAD
rs751222767	884	R>G		No	ExAC TOPMed gnomAD
rs62618734 RCV000974592 COSM1559286	884	R>H	central_nervous_system [Cosmic]	No	cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1641711401	886	S>A		No	gnomAD
rs1374737604	886	S>F		No	gnomAD
rs1641711604	887	Q>E		No	Ensembl
rs1353049777	888	I>T		No	TOPMed gnomAD
rs1287388136	892	L>F		No	gnomAD
rs1254387084	893	D>G		No	TOPMed gnomAD
rs544797559	893	D>N		No	1000Genomes ExAC TOPMed gnomAD
rs138872731	894	A>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1441761932	895	L>F		No	TOPMed
rs375664082	896	I>F		No	ESP ExAC TOPMed gnomAD
rs375664082	896	I>L		No	ESP ExAC TOPMed gnomAD
rs146256137	897	R>C		No	1000Genomes ESP ExAC TOPMed gnomAD
rs772315293	897	R>H		No	ExAC TOPMed gnomAD
rs772315293	897	R>L		No	ExAC TOPMed gnomAD
rs780307964	898	S>N		No	ExAC TOPMed gnomAD
rs1398683463	899	P>R		No	gnomAD
rs747032878	899	P>S		No	ExAC gnomAD
rs1309992168	902	L>F		No	gnomAD
rs200152015	905	T>A		No	ExAC TOPMed gnomAD
rs200152015	905	T>P		No	ExAC TOPMed gnomAD
rs142726625	906	A>S		No	ESP ExAC TOPMed gnomAD
rs142726625	906	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs1214049387	906	A>V		No	gnomAD
rs1641713845	908	V>D		No	gnomAD
rs1456340962	909	S>N		No	gnomAD
rs1197464122	909	S>R		No	gnomAD
rs1641714286	910	R>M		No	TOPMed
rs1641719763	911	C>Y		No	Ensembl
TCGA novel	912	P>H	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs748668673	912	P>L		No	ExAC gnomAD
rs199853592	913	P>H		No	ExAC TOPMed gnomAD
rs199853592	913	P>L		No	ExAC TOPMed gnomAD
rs571732433	913	P>S		No	1000Genomes ExAC TOPMed gnomAD
rs763255096	914	P>R		No	ExAC TOPMed gnomAD
rs1641720185	914	P>S		No	gnomAD
rs1190514725	915	A>T		No	TOPMed gnomAD
rs2148273587	917	V>A		No	Ensembl
rs147795823	917	V>F		No	1000Genomes ESP ExAC TOPMed gnomAD
rs147795823	917	V>I		No	1000Genomes ESP ExAC TOPMed gnomAD
rs147795823	917	V>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs141279306 COSM4029310	918	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs760234665	918	R>W		No	ExAC TOPMed gnomAD
rs753756295	922	D>G		No	ExAC gnomAD
rs1043147569	922	D>N		No	TOPMed
rs778640305	923	L>V		No	ExAC TOPMed gnomAD
rs765031953	924	R>*		No	ExAC gnomAD
rs147939357	924	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs147939357	924	R>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs147939357	924	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs201047906	925	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA gnomAD
rs200470501	925	G>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1641721848	926	G>C		No	TOPMed gnomAD
rs143804645	926	G>V		No	ESP ExAC TOPMed gnomAD
rs1641722001	927	S>I		No	TOPMed
rs1641722001	927	S>N		No	TOPMed
rs781303625	928	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1049095478	929	G>A		No	gnomAD
rs1049095478	929	G>D		No	gnomAD
COSM905226 rs756668263	930	G>S	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1488149108	931	G>E		No	gnomAD
rs142066703	932	G>D		No	ESP ExAC TOPMed gnomAD
rs778194934	932	G>R		No	ExAC TOPMed gnomAD
rs778194934	932	G>S		No	ExAC TOPMed gnomAD
rs142066703	932	G>V		No	ESP ExAC TOPMed gnomAD
rs1431878746	934	T>P		No	gnomAD
rs1198331977	934	T>S		No	gnomAD
rs1019169249	935	V>M		No	TOPMed gnomAD
rs746640832	936	G>R		No	ExAC gnomAD
rs1289170642	937	D>N		No	gnomAD
rs776224376	938	W>*		No	ExAC gnomAD
rs765228796	939	L>R		No	ExAC
rs758336010	939	L>V		No	ExAC TOPMed gnomAD
rs1641724022	940	D>A		No	Ensembl
rs1641724022	940	D>G		No	Ensembl
rs374945795 COSM331176	940	D>H	lung [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs374945795	940	D>Y		No	ESP ExAC TOPMed gnomAD
rs199559772	943	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs755260283 COSM1251353	943	R>H	oesophagus [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs755260283	943	R>L		No	ExAC TOPMed gnomAD
rs199559772	943	R>S		No	1000Genomes ExAC TOPMed gnomAD
COSM3484903	944	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM330173 rs1216966524	945	G>D	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated TOPMed gnomAD
rs146237497 COSM1205484	946	R>Q	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs752835457	946	R>W		No	ExAC TOPMed gnomAD
rs749771471	948	R>*		No	ExAC TOPMed gnomAD
rs149515751	948	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs565216451	949	D>E		No	1000Genomes ExAC TOPMed gnomAD
rs1253321212	950	H>N		No	TOPMed gnomAD
rs746166476 COSM3385877	952	A>T	pancreas [Cosmic]	No	cosmic curated ExAC TOPMed
rs1641725579	952	A>V		No	TOPMed
rs369076646	953	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP NCI-TCGA TOPMed gnomAD
rs1468847722	954	G>S		No	TOPMed
COSM293374 rs990213044	955	G>R	Variant assessed as Somatic; MODERATE impact. oesophagus large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs1325102343	956	Y>C		No	TOPMed gnomAD
rs912923867	957	S>F		No	TOPMed
COSM6124669	958	S>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1641726401	958	S>Y		No	TOPMed
TCGA novel	959	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs576952185	959	L>P		No	1000Genomes ExAC gnomAD
rs747764837	959	L>V		No	ExAC gnomAD
rs762954946	961	M>I		No	ExAC gnomAD
rs774311718	964	R>C		No	ExAC TOPMed gnomAD
rs774311718	964	R>G		No	ExAC TOPMed gnomAD
rs202016361	964	R>H		No	ExAC TOPMed gnomAD
rs202016361	964	R>P		No	ExAC TOPMed gnomAD
rs1394659148	965	M>T		No	TOPMed
rs752849070	965	M>V		No	ExAC gnomAD
rs373032976	966	N>K		No	ESP ExAC TOPMed gnomAD
rs1641728004	966	N>S		No	Ensembl
rs375902715	967	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1237632422	968	Q>L		No	gnomAD
TCGA novel	969	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs148692719	970	V>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs148692719	970	V>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs776890427	971	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs139543017	971	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs139543017	971	R>L		No	ESP ExAC TOPMed gnomAD
rs2148274373	972	A>D		No	Ensembl
TCGA novel	972	A>P	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs145095203	972	A>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs145095203	972	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1273206543	974	G>D		No	TOPMed gnomAD
rs1235063910	976	T>N		No	gnomAD
rs1305930113	977	L>H		No	gnomAD
rs766802239	978	M>I		No	ExAC gnomAD
rs536376846	978	M>L		No	1000Genomes ExAC TOPMed gnomAD
rs958885328	978	M>R		No	TOPMed gnomAD
rs536376846	978	M>V		No	1000Genomes ExAC TOPMed gnomAD
rs1447568896	979	G>S		No	gnomAD
rs1641739156	980	H>Y		No	Ensembl
rs1217829614	982	K>E		No	gnomAD
rs1250639728	982	K>N		No	TOPMed gnomAD
rs1217829614	982	K>Q		No	gnomAD
rs199735359	983	K>M		No	ExAC TOPMed gnomAD
rs1396520336	984	I>V		No	TOPMed gnomAD
rs760037386	985	L>P		No	ExAC gnomAD
rs1402994229	986	G>S		No	gnomAD
rs2148274484	987	S>R		No	Ensembl
rs1641740065	987	S>T		No	Ensembl
rs767961686	989	Q>*		No	ExAC gnomAD
rs767961686	989	Q>E		No	ExAC gnomAD
rs1434042206	990	T>S		No	TOPMed
rs1327935510	991	M>I		No	gnomAD
rs756880433	991	M>T		No	ExAC TOPMed gnomAD
rs199804540	992	R>P		No	ESP ExAC TOPMed gnomAD
rs199804540	992	R>Q		No	ESP ExAC TOPMed gnomAD
rs542943867 COSM1205489	992	R>W	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed
rs200111539	993	A>S		No	1000Genomes ExAC TOPMed gnomAD
rs200111539	993	A>T		No	1000Genomes ExAC TOPMed gnomAD
rs150038826	993	A>V		No	ESP ExAC TOPMed gnomAD
rs754811830	998	T>I		No	ExAC gnomAD
rs754811830	998	T>S		No	ExAC gnomAD
rs1570043585	999	Q>*		No	Ensembl
rs1011710043	1000	G>R		No	TOPMed gnomAD
rs1450177211	1001	P>R		No	TOPMed gnomAD
rs1275624041	1001	P>S		No	TOPMed gnomAD
rs781000303	1002	R>C		No	ExAC TOPMed gnomAD
rs566456855	1002	R>H		No	1000Genomes ExAC TOPMed gnomAD
rs370302532	1003	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD
rs374170042	1003	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs370302532 COSM1236217	1003	R>W	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1035348096	1005	L>H		No	TOPMed
rs200304246	1005	L>V		No	1000Genomes ESP ExAC TOPMed gnomAD

No associated diseases with P29322

6 regional properties for P29322

Type	Name	Position	InterPro Accession
domain	C2 domain	706 - 834	IPR000008
domain	Phosphatidylinositol-specific phospholipase C, X domain	315 - 467	IPR000909
domain	Phospholipase C, phosphatidylinositol-specific, Y domain	589 - 705	IPR001711
domain	Phospholipase C-beta, C-terminal domain	943 - 1200	IPR014815
domain	PLC-beta, PH domain	18 - 147	IPR037862
domain	Phosphoinositide phospholipase C beta 1-4-like, EF-hand domain	152 - 219	IPR053945

Functions

		Description
EC Number	2.7.10.1	Protein-tyrosine kinases
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein Cell projection Early endosome membrane	Undergoes clathrin-mediated endocytosis upon EFNA5-binding and is targeted to early endosomes
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
dendrite	A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
early endosome membrane	The lipid bilayer surrounding an early endosome.
neuron projection	A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

5 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ephrin receptor activity	Combining with an ephrin receptor ligand to initiate a change in cell activity.
GPI-linked ephrin receptor activity	Combining with a GPI-anchored ephrin to initiate a change in cell activity.
growth factor binding	Binding to a growth factor, proteins or polypeptides that stimulate a cell or organism to grow or proliferate.
transmembrane-ephrin receptor activity	Combining with a transmembrane ephrin to initiate a change in cell activity.

12 GO annotations of biological process

Name	Definition
axon guidance	The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues.
cell adhesion	The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.
cellular response to follicle-stimulating hormone 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 follicle-stimulating hormone stimulus.
ephrin receptor signaling pathway	The series of molecular signals initiated by ephrin binding to its receptor, and ending with the regulation of a downstream cellular process, e.g. transcription.
neuron projection development	The process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).
neuron remodeling	The developmentally regulated remodeling of neuronal projections such as pruning to eliminate the extra dendrites and axons projections set up in early stages of nervous system development.
phosphorylation	The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide.
positive regulation of MAPK cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade.
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	Any process that activates or increases the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B.
regulation of cell adhesion	Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix.
regulation of cell adhesion mediated by integrin	Any process that modulates the frequency, rate, or extent of cell adhesion mediated by integrin.
substrate-dependent cell migration	The orderly movement of a cell from one site to another along a substrate such as the extracellular matrix; the migrating cell forms a protrusion that attaches to the substrate.

49 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P28693	EPHB2	Ephrin type-B receptor 2	Gallus gallus (Chicken)	PR
Q07496	EPHA4	Ephrin type-A receptor 4	Gallus gallus (Chicken)	SS
Q07494	EPHB1	Ephrin type-B receptor 1	Gallus gallus (Chicken)	SS
Q07497	EPHB5	Ephrin type-B receptor 5	Gallus gallus (Chicken)	PR
P29318	EPHA3	Ephrin type-A receptor 3	Gallus gallus (Chicken)	SS
O42422	EPHA7	Ephrin type-A receptor 7	Gallus gallus (Chicken)	SS
P54755	EPHA5	Ephrin type-A receptor 5	Gallus gallus (Chicken)	SS
Q07498	EPHB3	Ephrin type-B receptor 3	Gallus gallus (Chicken)	SS
P0C0K6	EPHB6	Ephrin type-B receptor 6	Pan troglodytes (Chimpanzee)	SS
P21709	EPHA1	Ephrin type-A receptor 1	Homo sapiens (Human)	SS
P54760	EPHB4	Ephrin type-B receptor 4	Homo sapiens (Human)	SS
P29317	EPHA2	Ephrin type-A receptor 2	Homo sapiens (Human)	SS
Q15375	EPHA7	Ephrin type-A receptor 7	Homo sapiens (Human)	SS
P54756	EPHA5	Ephrin type-A receptor 5	Homo sapiens (Human)	SS
Q9UF33	EPHA6	Ephrin type-A receptor 6	Homo sapiens (Human)	SS
P54762	EPHB1	Ephrin type-B receptor 1	Homo sapiens (Human)	SS
P29320	EPHA3	Ephrin type-A receptor 3	Homo sapiens (Human)	PR
P54764	EPHA4	Ephrin type-A receptor 4	Homo sapiens (Human)	SS
P54753	EPHB3	Ephrin type-B receptor 3	Homo sapiens (Human)	SS
Q5JZY3	EPHA10	Ephrin type-A receptor 10	Homo sapiens (Human)	SS
O15197	EPHB6	Ephrin type-B receptor 6	Homo sapiens (Human)	SS
P29323	EPHB2	Ephrin type-B receptor 2	Homo sapiens (Human)	EV
P54754	Ephb3	Ephrin type-B receptor 3	Mus musculus (Mouse)	SS
Q03145	Epha2	Ephrin type-A receptor 2	Mus musculus (Mouse)	PR
Q03137	Epha4	Ephrin type-A receptor 4	Mus musculus (Mouse)	SS
Q61772	Epha7	Ephrin type-A receptor 7	Mus musculus (Mouse)	SS
Q8CBF3	Ephb1	Ephrin type-B receptor 1	Mus musculus (Mouse)	SS
Q8BYG9	Epha10	Ephrin type-A receptor 10	Mus musculus (Mouse)	SS
Q60629	Epha5	Ephrin type-A receptor 5	Mus musculus (Mouse)	SS
P29319	Epha3	Ephrin type-A receptor 3	Mus musculus (Mouse)	SS
Q62413	Epha6	Ephrin type-A receptor 6	Mus musculus (Mouse)	SS
Q60750	Epha1	Ephrin type-A receptor 1	Mus musculus (Mouse)	SS
P54763	Ephb2	Ephrin type-B receptor 2	Mus musculus (Mouse)	SS
P54761	Ephb4	Ephrin type-B receptor 4	Mus musculus (Mouse)	PR
O08644	Ephb6	Ephrin type-B receptor 6	Mus musculus (Mouse)	PR
O09127	Epha8	Ephrin type-A receptor 8	Mus musculus (Mouse)	SS
P54757	Epha5	Ephrin type-A receptor 5	Rattus norvegicus (Rat)	SS
P54759	Epha7	Ephrin type-A receptor 7	Rattus norvegicus (Rat)	SS
P09759	Ephb1	Ephrin type-B receptor 1	Rattus norvegicus (Rat)	SS
P0C0K7	Ephb6	Ephrin type-B receptor 6	Rattus norvegicus (Rat)	SS
O08680	Epha3	Ephrin type-A receptor 3	Rattus norvegicus (Rat)	SS
O61460	vab-1	Ephrin receptor 1	Caenorhabditis elegans	SS
Q8RWZ5	SD25	G-type lectin S-receptor-like serine/threonine-protein kinase SD2-5	Arabidopsis thaliana (Mouse-ear cress)	PR
Q94AG2	SERK1	Somatic embryogenesis receptor kinase 1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q3E991	PRK6	Pollen receptor-like kinase 6	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FXF2	RKF1	Probable LRR receptor-like serine/threonine-protein kinase RFK1	Arabidopsis thaliana (Mouse-ear cress)	PR
O13147	ephb3	Ephrin type-B receptor 3	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
O73878	ephb4b	Ephrin type-B receptor 4b	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
O13146	epha3	Ephrin type-A receptor 3	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MAPARGRLPP	ALWVVTAAAA	AATCVSAARG	EVNLLDTSTI	HGDWGWLTYP	AHGWDSINEV
70	80	90	100	110	120
DESFQPIHTY	QVCNVMSPNQ	NNWLRTSWVP	RDGARRVYAE	IKFTLRDCNS	MPGVLGTCKE
130	140	150	160	170	180
TFNLYYLESD	RDLGASTQES	QFLKIDTIAA	DESFTGADLG	VRRLKLNTEV	RSVGPLSKRG
190	200	210	220	230	240
FYLAFQDIGA	CLAILSLRIY	YKKCPAMVRN	LAAFSEAVTG	ADSSSLVEVR	GQCVRHSEER
250	260	270	280	290	300
DTPKMYCSAE	GEWLVPIGKC	VCSAGYEERR	DACVACELGF	YKSAPGDQLC	ARCPPHSHSA
310	320	330	340	350	360
APAAQACHCD	LSYYRAALDP	PSSACTRPPS	APVNLISSVN	GTSVTLEWAP	PLDPGGRSDI
370	380	390	400	410	420
TYNAVCRRCP	WALSRCEACG	SGTRFVPQQT	SLVQASLLVA	NLLAHMNYSF	WIEAVNGVSD
430	440	450	460	470	480
LSPEPRRAAV	VNITTNQAAP	SQVVVIRQER	AGQTSVSLLW	QEPEQPNGII	LEYEIKYYEK
490	500	510	520	530	540
DKEMQSYSTL	KAVTTRATVS	GLKPGTRYVF	QVRARTSAGC	GRFSQAMEVE	TGKPRPRYDT
550	560	570	580	590	600
RTIVWICLTL	ITGLVVLLLL	LICKKRHCGY	SKAFQDSDEE	KMHYQNGQAP	PPVFLPLHHP
610	620	630	640	650	660
PGKLPEPQFY	AEPHTYEEPG	RAGRSFTREI	EASRIHIEKI	IGSGDSGEVC	YGRLRVPGQR
670	680	690	700	710	720
DVPVAIKALK	AGYTERQRRD	FLSEASIMGQ	FDHPNIIRLE	GVVTRGRLAM	IVTEYMENGS
730	740	750	760	770	780
LDTFLRTHDG	QFTIMQLVGM	LRGVGAGMRY	LSDLGYVHRD	LAARNVLVDS	NLVCKVSDFG
790	800	810	820	830	840
LSRVLEDDPD	AAYTTTGGKI	PIRWTAPEAI	AFRTFSSASD	VWSFGVVMWE	VLAYGERPYW
850	860	870	880	890	900
NMTNRDVISS	VEEGYRLPAP	MGCPHALHQL	MLDCWHKDRA	QRPRFSQIVS	VLDALIRSPE
910	920	930	940	950	960
SLRATATVSR	CPPPAFVRSC	FDLRGGSGGG	GGLTVGDWLD	SIRMGRYRDH	FAAGGYSSLG
970	980	990	1000
MVLRMNAQDV	RALGITLMGH	QKKILGSIQT	MRAQLTSTQG	PRRHL