AiPD: Autoinhibited Protein Database

Q5JZY3

Gene name	EPHA10
Protein name	Ephrin type-A receptor 10
Names	EC 2.7.10.1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:284656
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)

619-645 (Juxtamembrane domain) SS

Target domain	645-904 (Protein kinase domain)
Relief mechanism	PTM
Assay

AID

619-645 (Juxtamembrane domain)

Target domain

645-904 (Protein kinase domain)

Relief mechanism

PTM (Phosphorylation of juxtamembrane domain)

Assay

Accessory elements

787-811 (Activation loop from InterPro)

Target domain	645-900 (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

1 structures for Q5JZY3

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q5JZY3-F1	Predicted				AlphaFoldDB

1344 variants for Q5JZY3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs775871085	2	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs775871085	2	E>V		No	ExAC gnomAD
rs772175881	3	T>A		No	ExAC TOPMed gnomAD
rs746011474	3	T>N		No	ExAC gnomAD
TCGA novel	5	A>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs779517653	5	A>S		No	TOPMed
rs749534188	6	G>C		No	ExAC gnomAD
rs749534188	6	G>R		No	ExAC gnomAD
rs749534188	6	G>S		No	ExAC gnomAD
rs372544277	7	P>Q		No	ESP ExAC TOPMed gnomAD
rs1646463438	8	H>L		No	Ensembl
rs555036470	8	H>Q		No	1000Genomes TOPMed gnomAD
rs746908859	9	P>Q		No	ExAC TOPMed gnomAD
rs1298076906	10	L>P		No	gnomAD
rs757981050	11	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs749996640	11	R>H		No	ExAC TOPMed gnomAD
rs749996640	11	R>L		No	ExAC TOPMed gnomAD
rs1383147752	12	L>H		No	gnomAD
rs139950312	14	L>F		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM4917079 COSM4917078	14	L>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs139950312	14	L>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1424316428	16	R>G		No	TOPMed gnomAD
rs1385929986	16	R>L		No	TOPMed gnomAD
rs1385929986	16	R>Q		No	TOPMed gnomAD
rs1424316428	16	R>W		No	TOPMed gnomAD
rs1474348338	17	M>I		No	gnomAD
rs1165624177	17	M>V		No	gnomAD
rs1372446284	18	Q>*		No	TOPMed gnomAD
rs1193574885	19	L>F		No	gnomAD
rs200509228	21	L>F		No	1000Genomes ExAC TOPMed gnomAD
COSM4869094 COSM909051	21	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1490429639	22	A>S		No	TOPMed gnomAD
rs764457119	22	A>V		No	ExAC gnomAD
rs538724455	24	L>P		No	1000Genomes ExAC gnomAD
rs1373813902	25	L>W		No	TOPMed
rs2148373309 COSM3489261 COSM3489260	26	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs1304025251	26	G>R		No	gnomAD
rs768050906	27	P>L		No	ExAC TOPMed gnomAD
rs768050906	27	P>R		No	ExAC TOPMed gnomAD
rs776056929	27	P>S		No	ExAC gnomAD
COSM6126331 COSM6126332	28	W>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs571530457	28	W>L		No	1000Genomes TOPMed
rs774365813	29	R>L		No	ExAC TOPMed gnomAD
rs1646462675	31	G>E		No	Ensembl
rs2148373289	32	T>A		No	1000Genomes
rs1404564122	32	T>I		No	gnomAD
rs771029938	33	A>T		No	ExAC TOPMed gnomAD
rs749446552	34	E>*		No	ExAC TOPMed gnomAD
rs749446552	34	E>K		No	ExAC TOPMed gnomAD
rs1395638752	35	E>K		No	gnomAD
rs981070753	37	I>F		No	TOPMed gnomAD
rs1350231063	41	S>Y		No	gnomAD
rs1439895929	43	A>P		No	TOPMed gnomAD
TCGA novel	43	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs766388173	46	A>T		No	ExAC gnomAD
COSM909050 COSM4874627	46	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1453346098	47	E>D		No	TOPMed gnomAD
rs773480694	47	E>K		No	ExAC TOPMed gnomAD
rs769952811	49	G>A		No	ExAC TOPMed gnomAD
rs1569775551	49	G>C		No	Ensembl
rs769952811	49	G>D		No	ExAC TOPMed gnomAD
rs2148372000	50	W>C		No	Ensembl
rs1399691031	50	W>S		No	gnomAD
rs760498851	51	T>I		No	ExAC gnomAD
TCGA novel	52	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1646444575	53	L>V		No	TOPMed
rs775380990	54	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
COSM4865208 COSM909049	55	S>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1646444486	55	S>N		No	TOPMed
rs1242035696	55	S>R		No	gnomAD
rs1463905553	55	S>R		No	TOPMed
rs1646444426	56	N>K		No	TOPMed
rs1183497010	56	N>S		No	gnomAD
rs1208567802	57	G>A		No	gnomAD
rs772027154	57	G>R		No	ExAC gnomAD
rs772027154	57	G>W		No	ExAC gnomAD
COSM3865524 COSM3865523	58	W>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1362374316	59	E>K		No	gnomAD
rs1362374316	59	E>Q		No	gnomAD
rs1279925701	60	E>D		No	TOPMed gnomAD
rs867990478	60	E>K		No	Ensembl
rs1332916832	61	I>F		No	Ensembl
rs765383990	61	I>T		No	ExAC TOPMed gnomAD
rs1303175260	63	G>C		No	TOPMed gnomAD
rs1303175260	63	G>S		No	TOPMed gnomAD
rs771975739	64	V>L		No	ExAC TOPMed gnomAD
rs771975739	64	V>M		No	ExAC TOPMed gnomAD
rs1317017413	65	D>Y		No	TOPMed gnomAD
COSM3966560 COSM3966561	67	H>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1646438108	67	H>Y		No	TOPMed gnomAD
rs1646438051	68	D>E		No	Ensembl
rs1428500200	68	D>H		No	gnomAD
TCGA novel	68	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs139705028	69	R>C		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM4838045 rs770820031 COSM4838044	69	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
COSM239716 COSM5901029 rs1268474857	72	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
COSM5083833 rs1200186933 COSM5083834	72	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs1200186933	72	R>P		No	gnomAD
rs1489489572	73	T>A		No	gnomAD
COSM1342418 COSM4783773	73	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1249742783	73	T>R		No	gnomAD
rs529427986	75	Q>E		No	1000Genomes ExAC TOPMed gnomAD
rs1646437737	76	V>A		No	gnomAD
rs751086322	76	V>L		No	TOPMed gnomAD
rs751086322	76	V>M		No	TOPMed gnomAD
rs769349980	78	N>S		No	ExAC gnomAD
rs1283488094	79	V>L		No	gnomAD
rs1283488094	79	V>M		No	gnomAD
rs1646437589	81	E>K		No	TOPMed
rs1557561350	82	P>H		No	Ensembl
rs1646437556	83	N>D		No	Ensembl
rs1646437541	83	N>S		No	Ensembl
rs780881616	84	Q>*		No	ExAC TOPMed gnomAD
rs780881616	84	Q>K		No	ExAC TOPMed gnomAD
rs1646437481	85	D>G		No	TOPMed gnomAD
rs1370520570	85	D>N		No	gnomAD
rs755333973	88	L>V		No	ExAC TOPMed gnomAD
rs1401679262	91	G>D		No	gnomAD
rs1173211997	92	W>*		No	gnomAD
rs202202407	93	I>V		No	ExAC gnomAD
rs780519736	94	S>N		No	ExAC
rs1569774137	94	S>R		No	Ensembl
rs1429076548	95	R>C		No	gnomAD
rs758785213	95	R>H		No	ExAC TOPMed
rs758785213	95	R>P		No	ExAC TOPMed
rs750974879	96	G>A		No	ExAC TOPMed gnomAD
rs750974879	96	G>D		No	ExAC TOPMed gnomAD
COSM5189157 rs757411529	97	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
COSM4007624 rs764448343 COSM4007623	97	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs764448343	97	R>L		No	ExAC TOPMed gnomAD
rs865882659	98	G>E		No	TOPMed
rs762731131	98	G>R		No	ExAC gnomAD
rs972379828	100	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs773214665	100	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs773214665	100	R>L		No	ExAC gnomAD
rs972379828	100	R>S		No	TOPMed gnomAD
rs1646436849	103	V>A		No	Ensembl
rs34557762 VAR_055992	103	V>L		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs34557762	103	V>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1646436783	104	E>G		No	Ensembl
rs762597189	104	E>K		No	Ensembl
rs1646436731	105	L>P		No	TOPMed gnomAD
rs1305600481	105	L>V		No	TOPMed gnomAD
rs780244767	110	R>C		No	ExAC gnomAD
rs780244767	110	R>G		No	ExAC gnomAD
rs758798642	110	R>H		No	ExAC gnomAD
rs746306885	114	S>C		No	ExAC gnomAD
rs779536651	115	I>F		No	ExAC TOPMed gnomAD
rs779536651	115	I>V		No	ExAC TOPMed gnomAD
rs1158422168	116	P>L		No	gnomAD
rs1646436516	116	P>S		No	TOPMed
rs764288910	118	A>T		No	ExAC TOPMed gnomAD
rs1646436407	119	A>T		No	gnomAD
rs2148371399	119	A>V		No	Ensembl
rs756362822	120	G>S		No	ExAC TOPMed gnomAD
rs148837341	121	T>A		No	ESP ExAC TOPMed gnomAD
rs1646436329	122	C>G		No	TOPMed
rs766029059	122	C>W		No	ExAC gnomAD
rs1646436307	122	C>Y		No	Ensembl
rs267598587	124	E>*		No	1000Genomes ExAC gnomAD
COSM131739 rs267598587 COSM4545119	124	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA gnomAD
rs575794155	124	E>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1239371637	126	F>I		No	gnomAD
rs369053522	126	F>L		No	Ensembl
rs765261354	127	N>H		No	ExAC TOPMed gnomAD
rs761293236	127	N>K		No	ExAC TOPMed gnomAD
rs776072652	128	V>I		No	ExAC TOPMed gnomAD
rs776072652	128	V>L		No	ExAC TOPMed gnomAD
rs1382706600	129	Y>C		No	gnomAD
rs376467656	130	Y>D		No	ESP ExAC TOPMed gnomAD
rs376467656	130	Y>H		No	ESP ExAC TOPMed gnomAD
rs1569773727	131	L>P		No	Ensembl
COSM2167504 COSM3489256	132	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs964464777	133	T>I		No	TOPMed gnomAD
rs1646435958	133	T>S		No	TOPMed gnomAD
rs964464777	133	T>S		No	TOPMed gnomAD
rs1398183871	134	E>G		No	TOPMed gnomAD
rs1398183871	134	E>V		No	TOPMed gnomAD
rs564667286	135	A>T		No	1000Genomes ExAC gnomAD
rs1569773665	136	D>A		No	Ensembl
TCGA novel rs1646435821	136	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs1569773643	137	L>R		No	Ensembl
rs746281094	137	L>V		No	ExAC gnomAD
rs757787089	138	G>D		No	ExAC TOPMed gnomAD
rs779262786	138	G>S		No	ExAC gnomAD
rs893080687	139	R>C		No	TOPMed gnomAD
COSM909047 rs370045860 COSM3400743	139	R>H	Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs996728029	140	G>E		No	TOPMed gnomAD
COSM3377174 rs752849185 COSM3377173	141	R>C	Variant assessed as Somatic; MODERATE impact. pancreas [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM2167502 rs781544726	141	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs752849185	141	R>S		No	ExAC TOPMed gnomAD
COSM5380900 COSM5380901	142	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1288881141	142	P>T		No	TOPMed gnomAD
rs45567442	143	R>C		No	ESP ExAC TOPMed gnomAD
rs1285265207	143	R>H		No	gnomAD
rs1285265207	143	R>L		No	gnomAD
rs1285265207	143	R>P		No	gnomAD
rs750283398	145	G>D		No	ExAC TOPMed gnomAD
rs750283398	145	G>V		No	ExAC TOPMed gnomAD
rs146430998	146	G>C		No	ESP ExAC TOPMed gnomAD
TCGA novel	146	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM2149179 rs146430998 COSM3400742	146	G>S	Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1213421564	147	S>G		No	TOPMed gnomAD
rs139460043	148	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD
rs377655424	148	R>P		No	ESP ExAC TOPMed gnomAD
rs377655424	148	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs139460043	148	R>W		No	1000Genomes ESP ExAC TOPMed gnomAD
rs191434177	150	R>C		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM20624 rs771803475 VAR_042159 COSM4237599	150	R>H	Variant assessed as Somatic; MODERATE impact. a gastric adenocarcinoma sample; somatic mutation [NCI-TCGA, UniProt]	No	NCI-TCGA Cosmic UniProt 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs191434177	150	R>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1055490536	151	K>T		No	TOPMed gnomAD
rs755693718	152	I>L		No	ExAC gnomAD
rs774735737	152	I>M		No	ExAC gnomAD
rs575993574	153	D>H		No	1000Genomes ExAC TOPMed gnomAD
rs575993574 COSM1317531	153	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
COSM1321098	154	T>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs370728811	154	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs370728811	154	T>R		No	ESP ExAC TOPMed gnomAD
rs1646434472	156	A>V		No	TOPMed
rs1646434414 COSM393973 COSM4681265	157	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs1557561061	159	E>A		No	Ensembl
rs544224803	159	E>K		No	1000Genomes ExAC TOPMed gnomAD
rs1338093214	160	S>N		No	gnomAD
rs1257810563	162	T>M		No	TOPMed gnomAD
rs1646434097	165	D>Y		No	gnomAD
rs61742354	166	L>M		No	ExAC TOPMed gnomAD
rs753765935	167	G>D		No	ExAC gnomAD
rs1646433921	168	E>K		No	Ensembl
COSM4007618 COSM4007617	169	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1646433880	169	R>L		No	gnomAD
rs1646433896	169	R>S		No	TOPMed
rs764054816	170	K>R		No	ExAC gnomAD
rs1395755275	171	M>T		No	gnomAD
rs1171092854	174	N>K		No	gnomAD
rs1646433761	174	N>S		No	TOPMed gnomAD
TCGA novel	174	N>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM4007616 rs1467024250 COSM4007615	175	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs760078587	176	E>K		No	ExAC gnomAD
rs1646433580	177	V>A		No	TOPMed
rs1175198331	177	V>L		No	TOPMed gnomAD
rs1175198331	177	V>M		No	TOPMed gnomAD
rs752199599	178	R>C		No	ExAC TOPMed gnomAD
rs752199599	178	R>G		No	ExAC TOPMed gnomAD
rs759159930	179	E>D		No	ExAC TOPMed gnomAD
rs1179124778	179	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1179124778	179	E>Q		No	gnomAD
rs1472939529	181	G>*		No	TOPMed gnomAD
rs1472939529 COSM3489249 COSM2167495	181	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	TOPMed gnomAD NCI-TCGA Cosmic
rs1199858859	181	G>V		No	gnomAD
COSM3400741 COSM3400740	182	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs763477588	182	P>Q		No	ExAC TOPMed gnomAD
rs763477588	182	P>R		No	ExAC TOPMed gnomAD
rs1320390986 COSM6126339 COSM6126340	182	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
TCGA novel	183	L>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1218799400	184	S>G		No	gnomAD
rs1646433124	184	S>R		No	Ensembl
rs773825064	184	S>T		No	ExAC TOPMed gnomAD
rs770473569	185	R>P		No	ExAC TOPMed gnomAD
rs770473569	185	R>Q		No	ExAC TOPMed gnomAD
TCGA novel rs1646433093	185	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs373175313	186	R>L		No	ESP
rs373175313	186	R>Q		No	ESP
rs1376015481	186	R>W		No	TOPMed gnomAD
rs866576085	187	G>A		No	gnomAD
rs866576085	187	G>D		No	gnomAD
rs912259721	187	G>R		No	TOPMed gnomAD
rs866576085	187	G>V		No	gnomAD
rs922797569	190	L>V		No	TOPMed gnomAD
rs1426891813	193	Q>R		No	TOPMed gnomAD
rs781264026	194	D>E		No	ExAC gnomAD
rs1156274502	194	D>N		No	TOPMed gnomAD
COSM6126342 COSM6126341	194	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs769104939	195	V>L		No	Ensembl
rs769104939	195	V>M		No	Ensembl
rs533853183	197	A>S		No	1000Genomes ExAC TOPMed gnomAD
rs1474832799	197	A>V		No	TOPMed gnomAD
rs1281039637	199	V>L		No	TOPMed gnomAD
COSM4872194 rs1281039637 COSM909045	199	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
TCGA novel	200	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs368938819	201	L>F		No	ESP TOPMed gnomAD
rs1168550358	202	V>A		No	TOPMed gnomAD
rs138944258	202	V>I		No	1000Genomes ESP ExAC TOPMed gnomAD
rs756015441	203	S>L		No	ExAC gnomAD
rs1299950846	204	V>L		No	TOPMed
rs1380569555	205	R>C		No	gnomAD
COSM4865653 COSM909044	205	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1380569555	205	R>S		No	gnomAD
rs1448534073	206	V>I		No	gnomAD
rs1414630275	207	Y>C		No	TOPMed gnomAD
rs989550815	208	Y>*		No	TOPMed
rs751225962	208	Y>H		No	ExAC gnomAD
rs766201187	209	K>*		No	ExAC TOPMed gnomAD
rs766201187	209	K>E		No	ExAC TOPMed gnomAD
TCGA novel	209	K>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM4007613 COSM4007612	209	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs766201187	209	K>Q		No	ExAC TOPMed gnomAD
rs1271903679	209	K>R		No	TOPMed gnomAD
rs1557560843	210	Q>H		No	Ensembl
rs1360531153	211	C>Y		No	gnomAD
rs1160002328	212	R>C		No	TOPMed gnomAD
rs1442071068	212	R>H		No	gnomAD
COSM4861685 COSM680835	213	A>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs762339788	213	A>S		No	1000Genomes ExAC TOPMed gnomAD
rs762339788	213	A>T		No	1000Genomes ExAC TOPMed gnomAD
rs1473305589	213	A>V		No	gnomAD
rs1485307064	215	V>E		No	TOPMed gnomAD
rs1485307064	215	V>G		No	TOPMed gnomAD
rs1213831538	215	V>M		No	gnomAD
rs1557560815	216	R>W		No	Ensembl
rs1259391651	217	G>R		No	TOPMed gnomAD
rs1646431562	217	G>V		No	Ensembl
TCGA novel	219	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
VAR_042160 rs56276182	220	T>K		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1646431407	223	A>D		No	TOPMed
rs1311871447	223	A>T		No	TOPMed gnomAD
rs373392803	224	T>N		No	ESP ExAC TOPMed gnomAD
rs373392803	224	T>S		No	ESP ExAC TOPMed gnomAD
rs1557560788	225	A>T		No	Ensembl
rs1399006350	226	A>G		No	gnomAD
rs1268204836	226	A>T		No	gnomAD
rs1399006350	226	A>V		No	gnomAD
rs777507004	227	E>D		No	ExAC TOPMed gnomAD
COSM2167487 COSM4237589 rs868136274	227	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl NCI-TCGA
rs61747465	228	S>G		No	Ensembl
rs750504151	228	S>N		No	ExAC TOPMed gnomAD
rs750504151	228	S>T		No	ExAC TOPMed gnomAD
rs879055562	230	F>L		No	Ensembl
rs781032115	230	F>S		No	ExAC TOPMed gnomAD
rs781032115	230	F>Y		No	ExAC TOPMed gnomAD
rs1646430998	231	S>T		No	TOPMed gnomAD
rs754507288	231	S>Y		No	ExAC TOPMed gnomAD
rs1646430899	232	T>I		No	TOPMed
rs1416410562	234	V>M		No	gnomAD
rs1192027150	235	E>Q		No	gnomAD
rs1477607054	237	A>D		No	gnomAD
rs1477607054	237	A>G		No	gnomAD
rs766000675	238	G>*		No	ExAC gnomAD
COSM1205438	238	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs766000675 COSM4872306 COSM909043	238	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC gnomAD NCI-TCGA Cosmic NCI-TCGA
rs1489866196	239	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1222128985	240	C>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs765586186	241	V>G		No	ExAC gnomAD
rs1210938892	241	V>M		No	TOPMed gnomAD
rs1270605314	242	A>V		No	gnomAD
rs777161413	243	H>P		No	ExAC gnomAD
rs2148370986 COSM4007609 COSM4007608	244	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
COSM3400739 COSM3400738	245	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3489246 COSM3489245	246	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs568800596	247	E>*		No	1000Genomes ExAC gnomAD
rs568800596	247	E>K		No	1000Genomes ExAC gnomAD
rs1437795635	248	P>A		No	gnomAD
rs1465395542	250	S>I		No	gnomAD
rs1465395542	250	S>N		No	gnomAD
TCGA novel	250	S>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs746044086	252	P>L		No	ExAC TOPMed gnomAD
rs746044086	252	P>Q		No	ExAC TOPMed gnomAD
rs746044086	252	P>R		No	ExAC TOPMed gnomAD
COSM3400737 rs1431663148 COSM3400736	253	R>C	Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs1266755753	253	R>L		No	gnomAD
rs2148370936	255	H>Y		No	Ensembl
rs1231144183	256	C>*		No	TOPMed gnomAD
rs1489408880	256	C>Y		No	gnomAD
rs1399463322	257	G>D		No	TOPMed
rs769601385	257	G>R		No	ExAC gnomAD
rs769601385	257	G>S		No	ExAC gnomAD
rs1259763638	258	A>T		No	gnomAD
rs1301336645	259	D>A		No	TOPMed gnomAD
rs1041243769	259	D>E		No	gnomAD
rs1301336645	259	D>G		No	TOPMed gnomAD
rs781176065	259	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs768420213	261	E>*		No	ExAC TOPMed gnomAD
rs1646429583	262	W>*		No	gnomAD
rs1646429559	263	L>P		No	Ensembl
rs199745246	264	V>G		No	ExAC gnomAD
rs1446714162	264	V>M		No	gnomAD
rs779669590	265	P>L		No	ExAC TOPMed gnomAD
rs1333865903	265	P>S		No	gnomAD
rs1333865903	265	P>T		No	gnomAD
rs911369182	266	V>L		No	Ensembl
rs750074662	267	G>D		No	ExAC TOPMed gnomAD
rs778467077 COSM3489242 COSM3489241	268	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1378567936	268	R>H		No	TOPMed gnomAD
rs1378567936	268	R>L		No	TOPMed gnomAD
rs757632733	270	S>C		No	ExAC TOPMed gnomAD
rs754097241	270	S>N		No	ExAC TOPMed gnomAD
rs757632733	270	S>R		No	ExAC TOPMed gnomAD
rs1239763298	271	C>R		No	gnomAD
rs764526793	272	S>R		No	ExAC TOPMed gnomAD
rs958081409	273	A>T		No	gnomAD
COSM3400734 COSM3400735 rs761133986	273	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
rs1468195476	274	G>*		No	TOPMed gnomAD
rs1468195476	274	G>R		No	TOPMed gnomAD
TCGA novel	276	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1314556118	277	E>G		No	gnomAD
rs759654083	278	R>H		No	ExAC TOPMed gnomAD
rs1240052436	278	R>S		No	gnomAD
rs774629431	280	D>E		No	ExAC
rs932277556	280	D>N		No	TOPMed
rs4653328 VAR_042161	281	F>I		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1553141187	281	F>S		No	Ensembl
rs776221319	282	C>R		No	ExAC gnomAD
rs776221319	282	C>S		No	ExAC gnomAD
rs768526069	283	E>*		No	1000Genomes ExAC gnomAD
rs768526069 COSM297568	283	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA gnomAD
rs768526069	283	E>Q		No	1000Genomes ExAC gnomAD
rs1341350430	286	P>L		No	TOPMed gnomAD
rs756468429	286	P>S		No	ExAC gnomAD
rs756468429	286	P>T		No	ExAC gnomAD
rs1386131313	290	Y>H		No	TOPMed gnomAD
COSM1342417	291	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1198621913	292	V>L		No	TOPMed gnomAD
rs748571018	294	P>L		No	ExAC TOPMed gnomAD
rs1047729382	294	P>S		No	TOPMed gnomAD
rs781549720	295	R>Q		No	ExAC TOPMed gnomAD
rs1176914413	295	R>W		No	Ensembl
rs371877850	296	R>L		No	ESP ExAC gnomAD
rs371877850	296	R>Q		No	ESP ExAC gnomAD
rs529538143	296	R>W		No	TOPMed gnomAD
rs1646374802	297	P>H		No	TOPMed
rs1646374711	300	S>L		No	Ensembl
rs901316316	301	P>Q		No	TOPMed
rs942775977	302	C>S		No	Ensembl
rs201089676	304	E>*		No	1000Genomes
rs1171285132	307	R>Q		No	TOPMed gnomAD
rs750577605	307	R>W		No	ExAC TOPMed gnomAD
rs1415334458	308	A>S		No	TOPMed
rs890818345	308	A>V		No	TOPMed
rs1646374167	310	E>D		No	TOPMed
rs1257828163	310	E>G		No	gnomAD
rs760529783	310	E>K		No	ExAC TOPMed gnomAD
rs2148366847	311	N>H		No	Ensembl
COSM1560634 rs2148366842	312	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs1569761131	312	A>V		No	Ensembl
rs1646373751	313	S>F		No	TOPMed
rs1646373725	314	T>I		No	gnomAD
rs1646373633	317	V>A		No	TOPMed gnomAD
rs1646373670	317	V>M		No	gnomAD
TCGA novel	319	Q>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs555318790	321	S>G		No	1000Genomes
rs1327630496	322	Y>C		No	TOPMed gnomAD
rs1646373447	323	A>S		No	Ensembl
rs1646373447	323	A>T		No	Ensembl
rs767455915	323	A>V		No	ExAC TOPMed gnomAD
rs759347073	324	R>L		No	ExAC TOPMed gnomAD
rs759347073	324	R>P		No	ExAC TOPMed gnomAD
rs1373580014	325	S>L		No	gnomAD
rs1646373246	325	S>P		No	gnomAD
rs1487411575	326	P>L		No	TOPMed
rs1646373130	327	T>A		No	Ensembl
TCGA novel	328	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs868346239	329	P>L		No	Ensembl
rs868346239	329	P>Q		No	Ensembl
rs1327780610	329	P>S		No	gnomAD
rs774398881	330	P>H		No	ExAC gnomAD
rs770319282	331	S>P		No	ExAC gnomAD
rs1646372805	332	A>V		No	gnomAD
rs371271261	334	C>G		No	ESP ExAC TOPMed gnomAD
rs533739382	335	T>I		No	1000Genomes gnomAD
COSM3685949	336	R>G	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs767400879	336	R>Q		No	ExAC gnomAD
rs2148365443	338	P>L		No	1000Genomes
rs1357329420	338	P>S		No	TOPMed gnomAD
rs1357329420	338	P>T		No	TOPMed gnomAD
rs1413117824	339	S>P		No	TOPMed gnomAD
rs1646357692	340	A>G		No	Ensembl
rs1312372217	341	P>L		No	TOPMed gnomAD
rs1646357629	341	P>S		No	TOPMed
rs1283622139	342	R>Q		No	gnomAD
rs1356101624	343	D>H		No	TOPMed gnomAD
rs1294049237	344	L>P		No	Ensembl
rs1021989948	345	Q>E		No	TOPMed gnomAD
rs1021989948	345	Q>K		No	TOPMed gnomAD
TCGA novel	346	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1236100013	347	S>N		No	TOPMed gnomAD
rs1187024019	347	S>R		No	TOPMed gnomAD
rs1236100013	347	S>T		No	TOPMed gnomAD
rs956488876	348	L>M		No	TOPMed gnomAD
rs1352446982	349	S>I		No	TOPMed gnomAD
rs1260930675	350	R>G		No	TOPMed
rs1260930675	350	R>S		No	TOPMed
rs1646357024	351	S>L		No	TOPMed
rs1172308746	352	P>L		No	TOPMed gnomAD
rs2148365346	354	V>A		No	Ensembl
rs575487178	356	R>*		No	1000Genomes ExAC TOPMed gnomAD
rs1376618546	357	L>Q		No	gnomAD
rs1448282878	358	R>C		No	gnomAD
rs1357031470	358	R>H		No	gnomAD
rs1357031470	358	R>L		No	gnomAD
rs1295780109	359	W>*		No	gnomAD
rs2148365311	359	W>R		No	1000Genomes
rs1418516841	361	P>Q		No	gnomAD
rs1646356285	362	P>L		No	TOPMed gnomAD
rs1300296374	363	A>P		No	1000Genomes TOPMed gnomAD
rs1300296374	363	A>S		No	1000Genomes TOPMed gnomAD
rs1300296374	363	A>T		No	1000Genomes TOPMed gnomAD
rs1013132429	364	D>N		No	TOPMed gnomAD
rs1013132429	364	D>Y		No	TOPMed gnomAD
rs1406697861	365	S>*		No	TOPMed gnomAD
rs1406697861	365	S>L		No	TOPMed gnomAD
rs1412066389	366	G>A		No	TOPMed gnomAD
rs1412066389	366	G>E		No	TOPMed gnomAD
rs1646355987	366	G>R		No	TOPMed
rs1351419598	367	G>D		No	TOPMed gnomAD
rs1351419598	367	G>V		No	TOPMed gnomAD
rs1163094308	368	R>L		No	TOPMed gnomAD
rs1188137218	368	R>S		No	TOPMed gnomAD
rs1473234571	369	S>L		No	TOPMed gnomAD
rs1416286277	371	V>I		No	TOPMed
rs1006002423	372	T>I		No	1000Genomes TOPMed gnomAD
rs1006002423	372	T>S		No	1000Genomes TOPMed gnomAD
rs1473922262	373	Y>*		No	gnomAD
rs1646355358	374	S>*		No	TOPMed
rs774152803	376	L>P		No	ExAC gnomAD
rs1344638874	377	C>Y		No	TOPMed gnomAD
rs557124744	379	R>C		No	1000Genomes TOPMed gnomAD
rs1047615977	379	R>L		No	1000Genomes TOPMed gnomAD
rs557124744	379	R>S		No	1000Genomes TOPMed gnomAD
rs1217863101	381	G>C		No	TOPMed gnomAD
rs1319916607	381	G>V		No	TOPMed gnomAD
rs1288853342	382	R>C		No	1000Genomes gnomAD
rs1440615241	382	R>P		No	TOPMed gnomAD
rs1646354886	383	E>*		No	TOPMed gnomAD
rs1646354886	383	E>K		No	TOPMed gnomAD
rs1646354849	384	G>C		No	gnomAD
rs1646354849	384	G>R		No	gnomAD
rs1303743379	384	G>V		No	TOPMed gnomAD
rs766399824	385	P>Q		No	ExAC TOPMed gnomAD
rs766399824	385	P>R		No	ExAC TOPMed gnomAD
rs1557556473	385	P>S		No	Ensembl
TCGA novel rs1646354686	386	A>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs1646354711	386	A>S		No	TOPMed
rs1646354626	387	G>S		No	TOPMed
rs922442986	388	A>T		No	TOPMed gnomAD
rs1646354551	388	A>V		No	TOPMed gnomAD
rs535845844	389	C>W		No	1000Genomes ExAC TOPMed gnomAD
rs1646354410	390	E>A		No	TOPMed
rs1646354472	390	E>Q		No	TOPMed
rs1271175950	391	P>L		No	TOPMed gnomAD
rs942597118	392	C>R		No	TOPMed gnomAD
rs915110152	393	G>R		No	TOPMed gnomAD
rs1479143228	394	P>Q		No	TOPMed gnomAD
rs1479143228	394	P>R		No	TOPMed gnomAD
rs1646354121	394	P>S		No	TOPMed
rs989404128	396	V>L		No	TOPMed gnomAD
rs1646353836	399	L>P		No	TOPMed
rs2148365079	399	L>V		No	Ensembl
rs1289081385	400	P>L		No	TOPMed gnomAD
rs1289081385	400	P>Q		No	TOPMed gnomAD
rs1289081385	400	P>R		No	TOPMed gnomAD
rs1646353799	400	P>S		No	Ensembl
rs1646353701	401	R>C		No	gnomAD
rs1646353657	401	R>H		No	1000Genomes gnomAD
rs1646353657	401	R>P		No	1000Genomes gnomAD
rs1646353590	402	Q>P		No	TOPMed
rs1646353590	402	Q>R		No	TOPMed
rs769324781	403	A>E		No	1000Genomes ExAC TOPMed gnomAD
rs769324781	403	A>G		No	1000Genomes ExAC TOPMed gnomAD
rs1646353531	403	A>S		No	TOPMed
rs769324781	403	A>V		No	1000Genomes ExAC TOPMed gnomAD
rs113276903	404	G>A		No	Ensembl
rs1477659343	406	R>W		No	gnomAD
rs1424410827	407	E>D		No	gnomAD
rs1646353325	407	E>K		No	TOPMed gnomAD
rs1188409252	408	R>G		No	gnomAD
rs981853448	408	R>L		No	TOPMed gnomAD
rs981853448	408	R>Q		No	TOPMed gnomAD
rs1646353168	409	A>P		No	TOPMed
rs1646353168	409	A>S		No	TOPMed
rs1487448010	409	A>V		No	TOPMed gnomAD
rs1646353056	411	T>A		No	Ensembl
rs1646353030	411	T>M		No	Ensembl
rs958858480	413	L>V		No	Ensembl
rs2148364965	414	H>P		No	Ensembl
rs1646352930	414	H>Y		No	gnomAD
rs1222244450	415	L>P		No	gnomAD
rs1255923126	416	R>L		No	gnomAD
rs1469602008	416	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1646352774	417	P>A		No	TOPMed
rs1291411602	417	P>H		No	TOPMed gnomAD
rs1291411602	417	P>L		No	TOPMed gnomAD
rs1017646002	418	G>D		No	1000Genomes TOPMed gnomAD
rs1291782718	420	R>C		No	TOPMed gnomAD
rs1232506188	422	T>I		No	TOPMed gnomAD
rs1232506188	422	T>N		No	TOPMed gnomAD
rs1646352417	424	R>C		No	gnomAD
rs1217006487	424	R>L		No	TOPMed gnomAD
rs1217006487	424	R>P		No	TOPMed gnomAD
rs1390133325	425	V>A		No	gnomAD
rs1366326043	426	A>T		No	gnomAD
rs1646352251	426	A>V		No	Ensembl
rs887139019	427	A>E		No	TOPMed gnomAD
rs1159268568	428	L>P		No	TOPMed gnomAD
rs1166197479	431	V>A		No	TOPMed gnomAD
rs1408557528	432	S>W		No	TOPMed
rs1354718410	434	P>L		No	gnomAD
rs1354718410	434	P>R		No	gnomAD
rs1169363529	434	P>S		No	TOPMed gnomAD
rs1397140690	435	A>T		No	TOPMed gnomAD
rs2148364822	436	A>P		No	Ensembl
rs1329810040	437	A>T		No	TOPMed gnomAD
rs1415331689	438	A>P		No	1000Genomes TOPMed gnomAD
rs1415331689	438	A>T		No	1000Genomes TOPMed gnomAD
rs901220364	439	G>A		No	1000Genomes TOPMed gnomAD
rs901220364	439	G>E		No	1000Genomes TOPMed gnomAD
rs1646351529	440	T>A		No	Ensembl
rs1272615913	440	T>I		No	TOPMed
rs1355379555	441	T>N		No	TOPMed gnomAD
rs1478556450	443	A>T		No	TOPMed gnomAD
rs1039566530	443	A>V		No	TOPMed gnomAD
rs942543418	444	Q>H		No	1000Genomes TOPMed
rs1431463440	444	Q>R		No	1000Genomes TOPMed gnomAD
rs1646350415	446	T>N		No	TOPMed
rs1194109259	447	V>I		No	gnomAD
rs1646350054	448	S>P		No	Ensembl
rs1267725820	450	G>R		No	TOPMed
rs768870093	450	G>V		No	ExAC TOPMed gnomAD
rs935249093	451	P>L		No	TOPMed gnomAD
rs1646349728	452	G>E		No	TOPMed
rs1457907826	452	G>R		No	gnomAD
rs754083509	453	A>E		No	ExAC TOPMed gnomAD
rs754083509	453	A>V		No	ExAC TOPMed gnomAD
rs1350905397	455	W>C		No	gnomAD
rs778989256	455	W>R		No	TOPMed gnomAD
rs1646052697	456	E>V		No	TOPMed gnomAD
rs1284442840	457	E>*		No	gnomAD
TCGA novel	457	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1646052503	458	D>E		No	Ensembl
rs570567265	458	D>N		No	1000Genomes ExAC TOPMed gnomAD
rs570567265	458	D>Y		No	1000Genomes ExAC TOPMed gnomAD
rs868511809	459	E>*		No	Ensembl
rs1387034193	460	I>T		No	TOPMed gnomAD
rs1309688408	461	R>G		No	gnomAD
rs1427714145	461	R>P		No	TOPMed gnomAD
rs1646052254	463	D>N		No	Ensembl
rs762908730	464	R>*		No	ExAC gnomAD
rs866726907	464	R>L		No	TOPMed
rs866726907	464	R>Q		No	TOPMed
rs1358722782	467	P>L		No	TOPMed gnomAD
rs1370934967	468	Q>R		No	TOPMed
rs750382364	469	S>N		No	ExAC gnomAD
rs1365314901	469	S>R		No	TOPMed gnomAD
rs1422849096	470	V>A		No	gnomAD
rs372867751	470	V>L		No	ESP ExAC TOPMed gnomAD
rs372867751	470	V>M		No	ESP ExAC TOPMed gnomAD
rs1569692235	472	L>R		No	Ensembl
rs1569692206	473	S>A		No	Ensembl
rs997662623	473	S>L		No	TOPMed gnomAD
rs1646051310	475	R>Q		No	Ensembl
rs776259772	475	R>W		No	ExAC TOPMed gnomAD
rs969004578	476	E>G		No	gnomAD
rs80347083	478	I>L		No	ExAC TOPMed gnomAD
rs2148336303	479	P>S		No	Ensembl
rs2148336303	479	P>T		No	Ensembl
rs1646051113	480	A>S		No	TOPMed
rs775852618	480	A>V		No	ExAC TOPMed gnomAD
rs1243115705	482	A>D		No	gnomAD
rs1646050984	482	A>T		No	Ensembl
rs1243115705	482	A>V		No	gnomAD
rs2148336261	483	P>S		No	Ensembl
rs558648861	484	G>A		No	1000Genomes ExAC TOPMed gnomAD
TCGA novel	484	G>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1235382574	485	A>P		No	TOPMed gnomAD
rs1235382574	485	A>T		No	TOPMed gnomAD
rs771133694	486	N>S		No	ExAC TOPMed gnomAD
rs1646050681	486	N>Y		No	TOPMed
rs1297730927	487	D>N		No	TOPMed gnomAD
rs1646050549	487	D>V		No	Ensembl
rs1382693841	488	T>A		No	gnomAD
rs1387105396	488	T>M		No	gnomAD
rs1382693841	488	T>P		No	gnomAD
rs1646050333	489	E>Q		No	gnomAD
rs187675371	490	Y>*		No	1000Genomes ExAC TOPMed gnomAD
rs756293739	491	E>D		No	ExAC TOPMed gnomAD
rs777730326	491	E>Q		No	ExAC TOPMed gnomAD
rs1646050068	492	I>V		No	TOPMed
rs1166568200	493	R>*		No	gnomAD
rs201931535	493	R>P		No	1000Genomes ExAC gnomAD
rs201931535	493	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA gnomAD
rs138998381	495	Y>*		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1465713593	496	E>G		No	TOPMed
rs548534668	496	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs548534668	496	E>Q		No	1000Genomes ExAC TOPMed gnomAD
COSM4007605	498	G>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1569674223	498	G>V		No	Ensembl
rs781309020	499	Q>E		No	ExAC gnomAD
rs758183105	499	Q>R		No	ExAC TOPMed gnomAD
rs200957898	500	S>N		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1645983810	502	Q>*		No	Ensembl
COSM6126345	502	Q>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs778691242	503	T>I		No	ExAC gnomAD
rs757117912	505	S>Y		No	ExAC gnomAD
rs1645983626	506	M>I		No	TOPMed
rs987008398	506	M>K		No	Ensembl
rs1645983712	506	M>V		No	TOPMed
rs376288247	507	V>M		No	ESP ExAC TOPMed gnomAD
rs763641442	509	T>R		No	ExAC TOPMed gnomAD
rs1645983540	509	T>S		No	Ensembl
TCGA novel rs1645983320	510	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs141193695	511	A>E		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2148330187	511	A>T		No	Ensembl
rs141193695	511	A>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1471261165	512	P>L		No	gnomAD
rs201305517	512	P>T		No	TOPMed gnomAD
rs766881731	513	T>S		No	ExAC gnomAD
rs1645982869	515	T>N		No	Ensembl
rs375016026	516	V>I		No	ESP ExAC TOPMed gnomAD
rs375016026	516	V>L		No	ESP ExAC TOPMed gnomAD
rs1233339105	517	T>A		No	gnomAD
rs1197651332	517	T>S		No	Ensembl
rs1376299779	518	N>S		No	TOPMed gnomAD
COSM4007604	519	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1645982486	520	K>N		No	TOPMed
rs747231922	521	P>L		No	ExAC TOPMed gnomAD
rs1292229916	522	A>T		No	gnomAD
rs1645982333	522	A>V		No	gnomAD
rs1645982298	523	T>A		No	TOPMed
rs1397642131	523	T>S		No	TOPMed
rs182568246	524	R>C		No	1000Genomes ExAC TOPMed gnomAD
rs749221168 COSM2152965	524	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1216259906	525	Y>C		No	TOPMed
rs1645981857	526	V>D		No	TOPMed
rs55796784	526	V>I		No	1000Genomes ESP TOPMed gnomAD
rs1645981749	527	F>L		No	gnomAD
rs752094749	527	F>L		No	ExAC gnomAD
rs780855379	528	Q>H		No	ExAC TOPMed gnomAD
rs546366373	530	R>P		No	1000Genomes ExAC TOPMed gnomAD
rs546366373	530	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs145892280	530	R>W		No	1000Genomes ExAC TOPMed gnomAD
rs199986671	531	A>D		No	TOPMed gnomAD
rs1460625996	531	A>S		No	gnomAD
RCV000955699 rs35063879	532	A>T		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs368330975 COSM680837	533	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs574950075	534	P>L		No	1000Genomes ExAC TOPMed gnomAD
rs574950075	534	P>R		No	1000Genomes ExAC TOPMed gnomAD
rs770711134	535	G>V		No	ExAC gnomAD
rs1557539863	537	S>F		No	Ensembl
rs1336562475	538	W>*		No	gnomAD
rs749099942	540	A>D		No	ExAC TOPMed gnomAD
rs1362067500	541	Q>R		No	gnomAD
rs1433509249	543	F>L		No	TOPMed gnomAD
rs1392730477	544	N>K		No	gnomAD
rs1645980535	544	N>S		No	gnomAD
rs769553076	546	S>I		No	ExAC gnomAD
rs1645980346	547	I>V		No	TOPMed gnomAD
rs1396913554	548	E>A		No	gnomAD
COSM3489239	548	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1569672963	550	Q>*		No	Ensembl
rs1645980171	550	Q>R		No	Ensembl
rs1305357945	551	T>A		No	TOPMed
rs1305357945	551	T>P		No	TOPMed
rs1569672887	552	L>P		No	Ensembl
rs939662589	553	G>E		No	TOPMed gnomAD
rs1645979876	553	G>R		No	Ensembl
rs768276239	555	A>D		No	ExAC TOPMed gnomAD
COSM4007603	555	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs768276239	555	A>V		No	ExAC TOPMed gnomAD
rs1645907892	556	A>S		No	TOPMed
rs1645907892 TCGA novel	556	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs1428655781	557	S>*		No	Ensembl
rs1207460653	557	S>P		No	gnomAD
rs1645907602	558	G>E		No	TOPMed
rs55935760	559	S>C		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1645907431	560	R>G		No	TOPMed gnomAD
rs1235674830	560	R>T		No	gnomAD
rs779724541	561	D>E		No	ExAC TOPMed gnomAD
rs561711280	561	D>N		No	Ensembl
rs757920546	562	Q>H		No	ExAC gnomAD
rs745562020	563	S>I		No	ExAC gnomAD
rs779094564	564	P>R		No	ExAC gnomAD
rs927383446	564	P>S		No	Ensembl
rs754308771	565	A>P		No	ExAC TOPMed gnomAD
COSM3789977 rs754308771	565	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1374935340	565	A>V		No	TOPMed gnomAD
rs1174107544	566	I>V		No	TOPMed gnomAD
rs577409241	567	V>I		No	1000Genomes TOPMed gnomAD
COSM909040 rs562741164	568	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1158166135	569	T>I		No	gnomAD
rs200982956	570	V>I		No	ESP ExAC TOPMed gnomAD
rs1481991561	571	V>M		No	TOPMed
rs1364287256	573	I>V		No	TOPMed gnomAD
RCV000955698 rs34409053	574	S>L		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1249342095	575	A>T		No	Ensembl
rs1645905886	575	A>V		No	TOPMed
rs202093389	578	V>F		No	1000Genomes ExAC TOPMed gnomAD
rs202093389	578	V>I		No	1000Genomes ExAC TOPMed gnomAD
rs1304346716	579	L>V		No	TOPMed gnomAD
rs746947009	580	G>C		No	ExAC TOPMed gnomAD
rs775096565	580	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs746947009	580	G>R		No	ExAC TOPMed gnomAD
rs532043523	582	V>M		No	1000Genomes TOPMed gnomAD
rs1313622250	583	M>I		No	gnomAD
rs1354891880	583	M>L		No	TOPMed gnomAD
rs1354891880	583	M>V		No	TOPMed gnomAD
rs745483856	585	V>L		No	ExAC gnomAD
rs1645905017	586	L>P		No	gnomAD
rs1010802245	587	A>V		No	TOPMed gnomAD
rs778664060	588	I>V		No	ExAC gnomAD
rs1310108699	589	W>*		No	gnomAD
rs189994728	591	R>S		No	1000Genomes ExAC gnomAD
rs1228038415	592	P>H		No	TOPMed gnomAD
rs1228038415	592	P>L		No	TOPMed gnomAD
rs1250888947	592	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1460758304	594	S>N		No	TOPMed
rs1367321020	596	G>S		No	TOPMed gnomAD
rs1301202293	597	K>E		No	gnomAD
rs1439835554	598	G>A		No	gnomAD
rs1645833814	598	G>R		No	Ensembl
rs1439835554	598	G>V		No	gnomAD
rs1371480531	599	G>R		No	gnomAD
rs763955833	600	G>E		No	ExAC gnomAD
rs373952318	601	D>G		No	ESP ExAC TOPMed gnomAD
rs558829854	603	H>R		No	TOPMed gnomAD
rs752570966	603	H>Y		No	ExAC gnomAD
rs370292139	606	E>*		No	ESP ExAC TOPMed gnomAD
rs370292139	606	E>K		No	ESP ExAC TOPMed gnomAD
rs1172339669	607	E>K		No	gnomAD
rs949588047	610	F>V		No	TOPMed gnomAD
TCGA novel	611	H>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs773875357	611	H>N		No	ExAC gnomAD
rs553845364	611	H>R		No	1000Genomes ExAC TOPMed gnomAD
rs762572465	612	F>L		No	ExAC gnomAD
rs762572465	612	F>V		No	ExAC gnomAD
rs1569638637	613	K>R		No	Ensembl
rs779140862	614	V>G		No	ExAC gnomAD
rs1026352154	614	V>I		No	TOPMed gnomAD
rs1393116815	615	P>A		No	gnomAD
rs564699683	617	R>C		No	1000Genomes ExAC TOPMed gnomAD
rs376591568	617	R>H		No	ESP ExAC TOPMed gnomAD
rs564699683	617	R>S		No	1000Genomes ExAC TOPMed gnomAD
rs201937473	618	R>C		No	1000Genomes ExAC gnomAD
rs185125532	618	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs185125532	618	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs966546313	619	T>I		No	TOPMed gnomAD
rs966546313	619	T>R		No	TOPMed gnomAD
rs1361228605	620	F>S		No	TOPMed
rs2148314282	622	D>H		No	Ensembl
rs1055735572	623	P>T		No	TOPMed gnomAD
rs1645828150	624	Q>*		No	TOPMed gnomAD
rs1645828112	624	Q>P		No	TOPMed
rs1569638324	625	S>N		No	Ensembl
rs560853522	625	S>R		No	1000Genomes ExAC TOPMed gnomAD
rs1210187322	626	C>F		No	gnomAD
rs1645827896	627	G>A		No	TOPMed
COSM6063195	627	G>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs17511304 VAR_055993	629	L>P		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs17511304	629	L>R		No	1000Genomes ESP ExAC TOPMed gnomAD
VAR_042162 rs1645827659	630	L>P		No	gnomAD UniProt
rs764483834	630	L>V		No	ExAC gnomAD
rs1569638180	631	Q>*		No	Ensembl
rs761008366	631	Q>P		No	ExAC gnomAD
rs761008366	631	Q>R		No	ExAC gnomAD
rs199802058	632	A>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs772646925	633	V>M		No	ExAC TOPMed gnomAD
rs372083125	634	H>R		No	ESP ExAC TOPMed gnomAD
rs774526528	635	L>P		No	ExAC gnomAD
rs375035003	636	F>L		No	ESP ExAC TOPMed gnomAD
rs759710427	637	A>S		No	ExAC TOPMed gnomAD
rs759710427	637	A>T		No	ExAC TOPMed gnomAD
rs1454363845	639	E>*		No	Ensembl
TCGA novel	639	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1405968092	640	L>V		No	gnomAD
rs746750052	641	D>E		No	ExAC TOPMed gnomAD
rs55698593	642	A>G		No	1000Genomes ExAC TOPMed gnomAD
rs55698593	642	A>V		No	1000Genomes ExAC TOPMed gnomAD
rs1645826469	644	S>G		No	TOPMed
rs764781255	644	S>N		No	ExAC TOPMed gnomAD
rs12405650 VAR_055994	645	V>I		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs146568133	646	T>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs775959657	648	E>K		No	ExAC TOPMed gnomAD
rs2148313970	649	R>S		No	Ensembl
rs1339349634	650	S>N		No	gnomAD
rs966432285	650	S>R		No	TOPMed gnomAD
rs1645825708 COSM6063196	651	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic gnomAD
rs760101016	652	G>V		No	ExAC gnomAD
rs1645825491	653	G>E		No	Ensembl
rs1645825537	653	G>R		No	TOPMed
rs1330670829	654	G>R		No	TOPMed gnomAD
rs1344019973	654	G>V		No	gnomAD
rs377504714	655	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs377504714	655	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs542105309	655	R>W		No	1000Genomes TOPMed gnomAD
rs1325148729	656	F>S		No	gnomAD
rs760788864	658	E>G		No	ExAC gnomAD
rs1395153566	658	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1431013632	660	C>F		No	TOPMed gnomAD
rs1435209910	660	C>G		No	TOPMed
rs1431013632	660	C>Y		No	TOPMed gnomAD
rs1645803044	662	G>A		No	TOPMed gnomAD
rs1645803044	662	G>D		No	TOPMed gnomAD
rs775823628	663	C>R		No	ExAC TOPMed gnomAD
rs1378363831	663	C>W		No	gnomAD
rs766084127	665	Q>R		No	ExAC gnomAD
TCGA novel	666	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs904751334	667	P>A		No	TOPMed gnomAD
rs1645802659	667	P>L		No	TOPMed
rs904751334	667	P>S		No	TOPMed gnomAD
rs748130584	668	G>C		No	ExAC TOPMed gnomAD
rs748130584	668	G>R		No	ExAC TOPMed gnomAD
rs748130584	668	G>S		No	ExAC TOPMed gnomAD
rs562166943	669	R>C		No	1000Genomes ExAC TOPMed gnomAD
rs372692877	669	R>H		No	ESP ExAC TOPMed gnomAD
rs372692877	669	R>L		No	ESP ExAC TOPMed gnomAD
rs1464445614	670	Q>*		No	TOPMed gnomAD
rs1276188345	670	Q>H		No	gnomAD
rs2148311090	670	Q>L		No	Ensembl
rs779819381	673	L>F		No	ExAC gnomAD
rs2148311054	673	L>P		No	Ensembl
rs1372906845	674	V>I		No	TOPMed gnomAD
rs779253922	676	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1174520499	677	H>R		No	gnomAD
rs1403434891	677	H>Y		No	gnomAD
rs2148310971	678	M>T		No	Ensembl
rs2148310975	678	M>V		No	1000Genomes
rs764130831	681	D>A		No	ExAC gnomAD
rs2148310954 TCGA novel	681	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs756285645	682	S>N		No	ExAC
rs866947489	683	A>T		No	TOPMed gnomAD
rs765149449	685	D>A		No	ExAC gnomAD
rs750207231	685	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs911528899	686	S>T		No	gnomAD
rs575869458	687	Q>K		No	1000Genomes
rs1385848066	688	R>K		No	TOPMed gnomAD
rs1385848066	688	R>T		No	TOPMed gnomAD
COSM4405483	689	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs988143294	690	G>C		No	TOPMed
rs988143294	690	G>S		No	TOPMed
rs1353027371	691	F>L		No	gnomAD
rs768044067	691	F>S		No	ExAC TOPMed gnomAD
rs760286248	693	A>T		No	ExAC gnomAD
TCGA novel rs779197036	694	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA ExAC
rs200657467	694	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	695	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1456001428	696	L>F		No	TOPMed gnomAD
rs1456001428	696	L>I		No	TOPMed gnomAD
rs183615811	697	T>M		No	1000Genomes ExAC TOPMed gnomAD
rs183615811	697	T>R		No	1000Genomes ExAC TOPMed gnomAD
rs1453053073	699	G>A		No	TOPMed gnomAD
rs778311280	701	F>S		No	ExAC gnomAD
rs756592816	705	H>N		No	ExAC TOPMed gnomAD
rs752759776	706	I>V		No	ExAC gnomAD
rs755182243	707	V>L		No	ExAC TOPMed gnomAD
rs755182243	707	V>M		No	ExAC TOPMed gnomAD
rs765090396	708	R>Q		No	ExAC TOPMed gnomAD
rs751881827	708	R>W		No	ExAC TOPMed gnomAD
COSM680838	710	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1332015944	712	V>A		No	gnomAD
COSM5146569 rs753810317	712	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1288586656	713	V>I		No	gnomAD
rs764030792	715	R>*		No	ExAC TOPMed gnomAD
rs764030792	715	R>G		No	ExAC TOPMed gnomAD
rs779809100	715	R>Q		No	ExAC gnomAD
TCGA novel	716	G>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1290774457	716	G>R		No	TOPMed
rs2148308282	719	L>*		No	Ensembl
rs913419992 COSM1317532	721	I>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs1645780912	722	V>I		No	TOPMed
rs1569626485	723	T>P		No	Ensembl
rs1645780714	724	E>G		No	TOPMed gnomAD
rs777068617	724	E>K		No	ExAC TOPMed gnomAD
rs1645780658	725	Y>C		No	Ensembl
COSM3865519 rs1203607038	726	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs747022989	726	M>T		No	ExAC TOPMed gnomAD
rs200100438	726	M>V		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM464554	727	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1295634168	727	S>R		No	gnomAD
rs1645780335	727	S>R		No	Ensembl
rs1276015245	728	H>L		No	TOPMed gnomAD
TCGA novel	728	H>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1276015245	728	H>R		No	TOPMed gnomAD
rs1483039910	728	H>Y		No	gnomAD
rs758653010	729	G>E		No	ExAC gnomAD
TCGA novel	730	A>P	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1645779997	730	A>P		No	gnomAD
rs1645779997	730	A>T		No	gnomAD
rs1226530953	733	G>S		No	TOPMed gnomAD
rs2148308101	733	G>V		No	Ensembl
rs2148308093	734	F>L		No	Ensembl
rs779510962	737	R>Q		No	ExAC TOPMed gnomAD
rs202036880	737	R>W		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1645775066	739	E>G		No	Ensembl
rs200157400	739	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1645775028	740	G>R		No	gnomAD
rs1355408756	741	Q>K		No	TOPMed gnomAD
rs537583899	744	A>T		No	1000Genomes ExAC gnomAD
rs764575044	745	G>W		No	ExAC
TCGA novel	746	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs376404562	746	Q>K		No	ESP ExAC TOPMed gnomAD
TCGA novel	747	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1645774465	747	L>Q		No	Ensembl
rs759477895	748	M>T		No	ExAC TOPMed gnomAD
rs6671088	749	G>A		No	1000Genomes ESP ExAC TOPMed gnomAD
rs6671088 VAR_055995	749	G>E		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1645774302	749	G>R		No	Ensembl
rs6671088	749	G>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1319467669	752	P>L		No	gnomAD
rs1319467669	752	P>R		No	gnomAD
rs749548922	753	G>A		No	ExAC TOPMed gnomAD
rs200540751	753	G>R		No	1000Genomes ExAC TOPMed gnomAD
rs1569624657	754	L>R		No	Ensembl
rs780946985	755	A>V		No	ExAC TOPMed gnomAD
rs768484221	756	S>L		No	ExAC gnomAD
TCGA novel rs954578694	758	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs746947979	758	M>R		No	ExAC gnomAD
rs1304802230	758	M>V		No	TOPMed gnomAD
rs1569624547	759	K>R		No	Ensembl
rs1446812948	760	Y>*		No	gnomAD
rs780026931	760	Y>C		No	ExAC gnomAD
rs369517232	762	S>*		No	ESP ExAC TOPMed gnomAD
rs369517232	762	S>L		No	ESP ExAC TOPMed gnomAD
rs1388764638	762	S>T		No	TOPMed gnomAD
rs778512730	763	E>Q		No	ExAC gnomAD
rs1264164928	764	M>L		No	TOPMed gnomAD
rs1264164928	764	M>V		No	TOPMed gnomAD
rs756810758	765	G>S		No	ExAC gnomAD
rs536510485	766	Y>*		No	1000Genomes ExAC TOPMed gnomAD
rs375373367	766	Y>H		No	ESP ExAC TOPMed gnomAD
rs372127348	767	V>I		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1294463677	768	H>P		No	TOPMed
rs753126717	768	H>Q		No	ExAC gnomAD
rs1294463677	768	H>R		No	TOPMed
rs56167657	769	R>Q		No	TOPMed gnomAD
rs375914578	769	R>W		No	ESP ExAC TOPMed gnomAD
rs1021330988	770	G>D		No	Ensembl
rs1180266214	771	L>M		No	TOPMed gnomAD
TCGA novel	771	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1645771790	772	A>S		No	Ensembl
rs763058915	773	A>S		No	ExAC gnomAD
rs1427164882	774	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs201212979	774	R>H		No	1000Genomes ExAC TOPMed gnomAD
rs201212979	774	R>L		No	1000Genomes ExAC TOPMed gnomAD
VAR_042163	775	H>R	a breast infiltrating ductal carcinoma sample; somatic mutation [UniProt]	No	UniProt
rs746745788	775	H>Y		No	ExAC TOPMed gnomAD
rs1374944771	776	V>A		No	gnomAD
rs779826445	776	V>M		No	ExAC gnomAD
rs1165218012	777	L>V		No	TOPMed
rs1645771338	780	S>G		No	TOPMed
rs202083700	781	D>H		No	ExAC TOPMed gnomAD
rs202083700	781	D>N		No	ExAC TOPMed gnomAD
rs202083700	781	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs778263000	783	V>I		No	ExAC gnomAD
rs1224588627	785	K>E		No	gnomAD
rs1482008643	785	K>N		No	gnomAD
rs1645770899	786	I>T		No	TOPMed gnomAD
rs756832284	786	I>V		No	ExAC gnomAD
rs1329482824	789	F>C		No	TOPMed gnomAD
rs755834093	790	G>A		No	ExAC gnomAD
rs777625036	790	G>R		No	ExAC gnomAD
rs376037539	791	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs753073494	791	R>W		No	ExAC TOPMed gnomAD
rs755418681	792	G>A		No	ExAC TOPMed gnomAD
rs755418681	792	G>D		No	ExAC TOPMed gnomAD
rs766367997	793	P>R		No	ExAC TOPMed gnomAD
rs763155424	794	R>G		No	ExAC TOPMed gnomAD
rs757204463	794	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs763155424	794	R>W		No	ExAC TOPMed gnomAD
rs765372796	796	R>*		No	ExAC TOPMed gnomAD
rs765372796	796	R>G		No	ExAC TOPMed gnomAD
rs372556495	796	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs372556495	796	R>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs372556495	796	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1645769722	797	S>*		No	Ensembl
rs368428786	798	E>K		No	ESP ExAC TOPMed gnomAD
rs774413421	799	A>S		No	ExAC gnomAD
rs770333510	800	V>I		No	ExAC gnomAD
rs1645769258	801	Y>F		No	TOPMed
rs1645769053	803	T>A		No	TOPMed gnomAD
rs777457353	804	M>I		No	ExAC gnomAD
rs748741796	804	M>L		No	ExAC TOPMed gnomAD
rs748741796	804	M>V		No	ExAC TOPMed gnomAD
rs759432555	806	G>D		No	ExAC TOPMed gnomAD
rs1408359358	806	G>R		No	Ensembl
rs759432555	806	G>V		No	ExAC TOPMed gnomAD
rs6670599 VAR_055996	807	R>Q		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs143886883	807	R>W		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1569621531	808	S>G		No	Ensembl
rs1194037873	808	S>N		No	TOPMed gnomAD
rs1569621486	809	P>Q		No	Ensembl
rs772828546	809	P>T		No	ExAC
rs201339817	810	A>G		No	ESP ExAC TOPMed gnomAD
rs1645763273	810	A>P		No	TOPMed
rs201339817	810	A>V		No	ESP ExAC TOPMed gnomAD
rs1645762913	812	W>*		No	TOPMed
rs1569621342	812	W>G		No	TOPMed
rs1569621342	812	W>R		No	TOPMed
rs376540009	814	A>P		No	ESP ExAC TOPMed gnomAD
rs376540009	814	A>S		No	ESP ExAC TOPMed gnomAD
rs376540009	814	A>T		No	ESP ExAC TOPMed gnomAD
rs778930454	815	P>A		No	ExAC TOPMed gnomAD
rs778930454	815	P>S		No	ExAC TOPMed gnomAD
rs192256218	816	E>*		No	1000Genomes ExAC TOPMed gnomAD
COSM3489235 rs192256218	816	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1569621116	817	T>P		No	Ensembl
rs1395776806	818	L>F		No	TOPMed gnomAD
rs1392033712	819	Q>H		No	TOPMed gnomAD
rs1645762231	819	Q>R		No	Ensembl
rs760839982	822	H>R		No	ExAC TOPMed gnomAD
rs1645762135	822	H>Y		No	gnomAD
rs751320707	823	F>L		No	ExAC TOPMed gnomAD
COSM1342410	823	F>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs766327882	824	S>T		No	ExAC gnomAD
rs762954604	825	S>P		No	ExAC TOPMed gnomAD
rs376831140	826	A>S		No	ESP ExAC TOPMed gnomAD
rs1225078979	826	A>V		No	TOPMed gnomAD
rs761332888	827	S>G		No	ExAC TOPMed gnomAD
rs373625157	829	V>M		No	ESP ExAC TOPMed gnomAD
rs1645761310	830	W>*		No	gnomAD
rs1348284690	830	W>*		No	gnomAD
rs1322797167	831	S>R		No	TOPMed gnomAD
rs780441627	833	G>S		No	ExAC TOPMed gnomAD
rs772462490	834	I>L		No	ExAC gnomAD
rs772462490	834	I>V		No	ExAC gnomAD
rs1645761009	835	I>S		No	Ensembl
rs187414532	836	M>L		No	1000Genomes TOPMed gnomAD
rs746367810	836	M>T		No	ExAC TOPMed gnomAD
rs779452079	837	W>*		No	ExAC TOPMed gnomAD
rs1645760860	837	W>R		No	TOPMed
rs200984509	838	E>D		No	ESP ExAC TOPMed gnomAD
rs1645760647	840	M>T		No	gnomAD
rs1645760555	841	A>T		No	TOPMed
rs1645760462	842	F>S		No	Ensembl
rs1245669482	844	E>*		No	gnomAD
rs1645760373	844	E>D		No	TOPMed
rs777738447	845	R>L		No	ExAC TOPMed gnomAD
rs777738447	845	R>P		No	ExAC TOPMed gnomAD
rs777738447	845	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs371694877 COSM5846582	845	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs752904524	847	Y>C		No	ExAC gnomAD
rs752904524	847	Y>F		No	ExAC gnomAD
rs1203388779	848	W>C		No	gnomAD
TCGA novel	849	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1273975115	850	M>T		No	gnomAD
rs766274598	850	M>V		No	ExAC gnomAD
rs1486504924	852	G>S		No	Ensembl
rs750260220	853	Q>R		No	ExAC TOPMed gnomAD
rs748872840 COSM1342409	854	D>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
TCGA novel	854	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1337655515	854	D>V		No	TOPMed
TCGA novel	854	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1182000142	855	V>M		No	TOPMed gnomAD
rs375221623	856	I>M		No	ESP ExAC TOPMed gnomAD
rs757192600	864	R>Q		No	ExAC TOPMed gnomAD
rs765143179	864	R>W		No	ExAC gnomAD
rs201129658	867	P>A		No	ExAC TOPMed gnomAD
rs763651960	867	P>H		No	ExAC gnomAD
rs201129658	867	P>S		No	ExAC TOPMed gnomAD
rs201129658	867	P>T		No	ExAC TOPMed gnomAD
rs774992843	868	P>L		No	ExAC TOPMed gnomAD
rs774992843	868	P>R		No	ExAC TOPMed gnomAD
rs956776760	869	R>G		No	TOPMed gnomAD
rs1449193125 COSM1180724	869	R>G	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs1419046983	869	R>S		No	TOPMed gnomAD
rs1409396102	870	N>K		No	gnomAD
rs1337977279	872	P>A		No	TOPMed gnomAD
rs1179271631	872	P>L		No	gnomAD
rs1179271631	872	P>R		No	gnomAD
rs1482482805	873	N>K		No	gnomAD
rs2148304530	874	L>P		No	Ensembl
rs774676111	875	L>V		No	ExAC gnomAD
COSM3489234	876	H>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1645751549	876	H>Y		No	TOPMed gnomAD
rs543219786	877	R>*		No	1000Genomes ExAC TOPMed gnomAD
rs200423720	877	R>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs200423720	877	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs770350297	878	L>I		No	ExAC gnomAD
rs934490487	878	L>R		No	Ensembl
rs1262747442	879	M>I		No	TOPMed
rs748175541	879	M>R		No	ExAC TOPMed gnomAD
rs781456516	880	L>F		No	ExAC TOPMed gnomAD
rs781456516	880	L>V		No	ExAC TOPMed gnomAD
rs1645750781	881	D>E		No	Ensembl
COSM3865518 rs377304713	881	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP NCI-TCGA TOPMed gnomAD
rs1645750737	882	C>R		No	Ensembl
rs1645750544	883	W>*		No	Ensembl
rs767237675	883	W>L		No	gnomAD
rs1045901654	883	W>R		No	Ensembl
rs372786497	884	Q>*		No	ESP ExAC gnomAD
rs368522699	885	K>E		No	ESP ExAC TOPMed gnomAD
COSM909036	885	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1385769291	886	D>H		No	gnomAD
rs375262595	888	G>D		No	ESP ExAC TOPMed gnomAD
rs1569617549	888	G>R		No	Ensembl
rs763878482	890	R>G		No	ExAC TOPMed gnomAD
rs756079971	890	R>P		No	ExAC TOPMed gnomAD
rs756079971	890	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs763878482	890	R>W		No	ExAC TOPMed gnomAD
rs1645749827	893	F>L		No	TOPMed gnomAD
rs767063294	894	S>F		No	ExAC gnomAD
rs368098004	895	Q>*		No	ESP ExAC TOPMed gnomAD
rs368098004	895	Q>E		No	ESP ExAC TOPMed gnomAD
rs751281419 COSM1342408	896	I>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs1645749616	896	I>T		No	TOPMed
rs1645749500	898	S>G		No	Ensembl
rs1011895356	899	I>N		No	TOPMed
rs766755359	901	S>R		No	ExAC TOPMed gnomAD
rs763173206	902	K>E		No	ExAC gnomAD
rs1016455110	903	M>I		No	TOPMed gnomAD
rs1279390826	903	M>V		No	TOPMed gnomAD
COSM4007600	904	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1326000276	904	V>L		No	gnomAD
rs1326000276	904	V>M		No	gnomAD
rs773634070	905	Q>*		No	ExAC gnomAD
rs770164053	905	Q>R		No	ExAC gnomAD
rs1645748958 TCGA novel	908	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs1004616062	908	E>D		No	gnomAD
rs776825559	909	P>A		No	ExAC TOPMed gnomAD
rs138095126	909	P>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs138095126	909	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs776825559	909	P>S		No	ExAC TOPMed gnomAD
rs776825559	909	P>T		No	ExAC TOPMed gnomAD
rs1296435537	910	P>H		No	TOPMed gnomAD
rs1296435537	910	P>L		No	TOPMed gnomAD
rs747227181	911	K>*		No	ExAC
rs747227181	911	K>E		No	ExAC
rs370268519	911	K>M		No	ESP ExAC TOPMed gnomAD
rs370268519	911	K>R		No	ESP ExAC TOPMed gnomAD
TCGA novel	911	K>S	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs370268519	911	K>T		No	ESP ExAC TOPMed gnomAD
rs1456876103	913	A>S		No	gnomAD
rs1456876103	913	A>T		No	gnomAD
rs1164548824	914	L>P		No	gnomAD
rs755956421	915	T>A		No	ExAC gnomAD
rs752672196	915	T>I		No	ExAC gnomAD
rs1192832440	917	C>Y		No	TOPMed gnomAD
rs1429189292	918	P>L		No	gnomAD
rs1198026021	918	P>T		No	TOPMed
rs2148304044	919	R>M		No	Ensembl
rs757750429	919	R>S		No	ExAC gnomAD
TCGA novel	920	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM3489232	921	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1024179527	921	P>S		No	gnomAD
rs754265288	922	T>N		No	ExAC TOPMed gnomAD
rs1569613535	922	T>P		No	Ensembl
rs754265288	922	T>S		No	ExAC TOPMed gnomAD
rs1439347642	923	P>L		No	TOPMed gnomAD
rs570947557	925	A>V		No	1000Genomes ExAC TOPMed gnomAD
rs757044306	926	D>G		No	Ensembl
rs774693067	927	R>C		No	ExAC TOPMed gnomAD
rs1047206217	927	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1349102497	928	A>T		No	TOPMed gnomAD
rs1645735662	929	F>S		No	Ensembl
rs1569613238	931	T>P		No	Ensembl
rs1279507584	932	F>L		No	gnomAD
rs1645735361	933	P>L		No	gnomAD
rs1336893661	933	P>S		No	gnomAD
rs1569613138	934	S>P		No	Ensembl
rs200181512	936	G>C		No	ESP ExAC TOPMed gnomAD
rs200181512	936	G>S		No	ESP ExAC TOPMed gnomAD
rs765553539	936	G>V		No	ExAC gnomAD
rs768535760	939	G>R		No	ExAC TOPMed gnomAD
rs1258936214	939	G>V		No	TOPMed gnomAD
rs373108334	940	A>P		No	ESP ExAC TOPMed gnomAD
rs373108334	940	A>S		No	ESP ExAC TOPMed gnomAD
rs373108334	940	A>T		No	ESP ExAC TOPMed gnomAD
rs757990189	940	A>V		No	ExAC TOPMed gnomAD
rs745491585	942	L>P		No	ExAC TOPMed gnomAD
rs1645734663	943	E>K		No	TOPMed
rs942904555	944	A>T		No	Ensembl
rs778648031	945	L>P		No	ExAC TOPMed gnomAD
rs1645734497	946	D>E		No	TOPMed
rs1244620002	947	L>P		No	TOPMed gnomAD
rs756972068	948	C>S		No	ExAC TOPMed gnomAD
rs754213917	949	R>C		No	ExAC TOPMed gnomAD
rs370189375	949	R>H		No	ESP ExAC TOPMed gnomAD
rs1467947021	950	Y>C		No	TOPMed gnomAD
TCGA novel	950	Y>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	950	Y>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1053947920	951	K>E		No	gnomAD
rs2148302246	951	K>T		No	Ensembl
rs1645734001	952	D>G		No	Ensembl
rs756556017	952	D>N		No	ExAC gnomAD
rs756556017	952	D>Y		No	ExAC gnomAD
rs753287236	953	S>G		No	ExAC gnomAD
rs772965498	955	A>E		No	1000Genomes ExAC TOPMed gnomAD
rs11583463	955	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs772965498	955	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1557526521	956	A>S		No	Ensembl
VAR_042164	956	A>T		No	UniProt
rs763188517	957	A>G		No	ExAC gnomAD
rs1325988561	957	A>T		No	gnomAD
rs1402419110	958	G>D		No	gnomAD
rs1402419110	958	G>V		No	gnomAD
rs776391156	959	Y>C		No	ExAC gnomAD
rs1645733439	960	G>E		No	Ensembl
rs1339166760	960	G>R		No	TOPMed
rs1645733369	961	S>N		No	TOPMed
rs1474788451	964	A>V		No	gnomAD
rs1645733122	965	V>A		No	TOPMed
rs1645733122	965	V>G		No	TOPMed
rs368336351	965	V>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs201161532	966	A>S		No	ExAC TOPMed gnomAD
rs201161532	966	A>T		No	ExAC TOPMed gnomAD
rs756919028	967	E>D		No	ExAC gnomAD
rs375070442	967	E>K		No	ESP ExAC TOPMed gnomAD
rs1645732810	968	M>R		No	Ensembl
rs201769517	968	M>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs767112577	970	A>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
rs769334265	972	D>V		No	ExAC TOPMed gnomAD
rs748503258	973	L>V		No	ExAC TOPMed gnomAD
rs1394667533	978	I>F		No	gnomAD
rs781429600	979	S>P		No	ExAC gnomAD
rs2148301395	980	L>S		No	Ensembl
rs1233665836	982	E>A		No	gnomAD
rs755485058	983	H>N		No	ExAC gnomAD
rs755485058	983	H>Y		No	ExAC gnomAD
rs41267333	984	R>*		No	ESP ExAC TOPMed gnomAD
rs41267333	984	R>G		No	ESP ExAC TOPMed gnomAD
rs150426144	984	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs150426144	984	R>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs150426144	984	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs202194289	986	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1325520315	987	L>F		No	gnomAD
rs761975216	988	L>R		No	ExAC gnomAD
rs200996407	989	S>G		No	ESP TOPMed gnomAD
rs759515857	990	G>E		No	ExAC TOPMed gnomAD
rs767266987	990	G>R		No	ExAC TOPMed gnomAD
rs1450059103	992	S>G		No	TOPMed gnomAD
rs763316352	993	A>T		No	ExAC TOPMed gnomAD
rs762484761	994	L>P		No	ExAC TOPMed gnomAD
rs943066568	995	Q>L		No	TOPMed gnomAD
rs943066568	995	Q>R		No	TOPMed gnomAD
rs1645727099	996	A>E		No	Ensembl
rs1418851758	996	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs769437580	997	R>*		No	ExAC TOPMed gnomAD
rs769437580	997	R>G		No	ExAC TOPMed gnomAD
rs976727861	997	R>P		No	TOPMed gnomAD
rs976727861	997	R>Q		No	TOPMed gnomAD
rs1645726734	998	V>A		No	TOPMed gnomAD
rs1645726734	998	V>E		No	TOPMed gnomAD
rs1645726872	998	V>M		No	TOPMed
rs1645726643	1000	Q>H		No	Ensembl
rs549052875	1003	G>C		No	1000Genomes TOPMed
rs549052875	1003	G>S		No	1000Genomes TOPMed
rs747802363	1003	G>V		No	ExAC gnomAD
rs781585822	1004	Q>E		No	ExAC TOPMed gnomAD
rs768964292	1005	G>A		No	ExAC gnomAD
COSM3489230	1005	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs780485182	1006	V>A		No	ExAC TOPMed gnomAD
COSM1342407	1006	V>C	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs780485182	1006	V>G		No	ExAC TOPMed gnomAD
rs78757428	1006	V>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs78757428	1006	V>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1286309547	1007	Q>E		No	gnomAD
rs1317257710	1008	V>M		No	TOPMed gnomAD
rs758914246	1009	V>S		No	ExAC gnomAD

1 associated diseases with Q5JZY3

[MIM: 620283]: Deafness, autosomal dominant, 88 (DFNA88)

A form of non-syndromic, sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA88 is characterized by postlingual, progressive and severe hearing loss with tinnitus. . Note=The disease may be caused by variants affecting the gene represented in this entry.

Without disease ID

A form of non-syndromic, sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA88 is characterized by postlingual, progressive and severe hearing loss with tinnitus. . Note=The disease may be caused by variants affecting the gene represented in this entry.

9 regional properties for Q5JZY3

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	645 - 900	IPR000719
domain	Ephrin receptor ligand binding domain	35 - 216	IPR001090
domain	Serine-threonine/tyrosine-protein kinase, catalytic domain	646 - 900	IPR001245
conserved_site	Tyrosine-protein kinase, receptor class V, conserved site	192 - 212	IPR001426-1
conserved_site	Tyrosine-protein kinase, receptor class V, conserved site	256 - 276	IPR001426-2
domain	Sterile alpha motif domain	930 - 997	IPR001660
domain	Fibronectin type III	338 - 452	IPR003961-1
domain	Fibronectin type III	451 - 554	IPR003961-2
domain	Ephrin receptor, transmembrane domain	570 - 642	IPR027936

Functions

		Description
EC Number	2.7.10.1	Protein-tyrosine kinases
Subcellular Localization	[Isoform 1]: Cell membrane ; Single-pass type I membrane protein ;
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.
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.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

2 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
transmembrane-ephrin receptor activity	Combining with a transmembrane ephrin to initiate a change in cell activity.

3 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.
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.
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.

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
P29322	EPHA8	Ephrin type-A receptor 8	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
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
O09127	Epha8	Ephrin type-A receptor 8	Mus musculus (Mouse)	SS
Q8CBF3	Ephb1	Ephrin type-B receptor 1	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
Q8BYG9	Epha10	Ephrin type-A receptor 10	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
METCAGPHPL	RLFLCRMQLC	LALLLGPWRP	GTAEEVILLD	SKASQAELGW	TALPSNGWEE
70	80	90	100	110	120
ISGVDEHDRP	IRTYQVCNVL	EPNQDNWLQT	GWISRGRGQR	IFVELQFTLR	DCSSIPGAAG
130	140	150	160	170	180
TCKETFNVYY	LETEADLGRG	RPRLGGSRPR	KIDTIAADES	FTQGDLGERK	MKLNTEVREI
190	200	210	220	230	240
GPLSRRGFHL	AFQDVGACVA	LVSVRVYYKQ	CRATVRGLAT	FPATAAESAF	STLVEVAGTC
250	260	270	280	290	300
VAHSEGEPGS	PPRMHCGADG	EWLVPVGRCS	CSAGFQERGD	FCEACPPGFY	KVSPRRPLCS
310	320	330	340	350	360
PCPEHSRALE	NASTFCVCQD	SYARSPTDPP	SASCTRPPSA	PRDLQYSLSR	SPLVLRLRWL
370	380	390	400	410	420
PPADSGGRSD	VTYSLLCLRC	GREGPAGACE	PCGPRVAFLP	RQAGLRERAA	TLLHLRPGAR
430	440	450	460	470	480
YTVRVAALNG	VSGPAAAAGT	TYAQVTVSTG	PGAPWEEDEI	RRDRVEPQSV	SLSWREPIPA
490	500	510	520	530	540
GAPGANDTEY	EIRYYEKGQS	EQTYSMVKTG	APTVTVTNLK	PATRYVFQIR	AASPGPSWEA
550	560	570	580	590	600
QSFNPSIEVQ	TLGEAASGSR	DQSPAIVVTV	VTISALLVLG	SVMSVLAIWR	RPCSYGKGGG
610	620	630	640	650	660
DAHDEEELYF	HFKVPTRRTF	LDPQSCGDLL	QAVHLFAKEL	DAKSVTLERS	LGGGRFGELC
670	680	690	700	710	720
CGCLQLPGRQ	ELLVAVHMLR	DSASDSQRLG	FLAEALTLGQ	FDHSHIVRLE	GVVTRGSTLM
730	740	750	760	770	780
IVTEYMSHGA	LDGFLRRHEG	QLVAGQLMGL	LPGLASAMKY	LSEMGYVHRG	LAARHVLVSS
790	800	810	820	830	840
DLVCKISGFG	RGPRDRSEAV	YTTMSGRSPA	LWAAPETLQF	GHFSSASDVW	SFGIIMWEVM
850	860	870	880	890	900
AFGERPYWDM	SGQDVIKAVE	DGFRLPPPRN	CPNLLHRLML	DCWQKDPGER	PRFSQIHSIL
910	920	930	940	950	960
SKMVQDPEPP	KCALTTCPRP	PTPLADRAFS	TFPSFGSVGA	WLEALDLCRY	KDSFAAAGYG
970	980	990	1000
SLEAVAEMTA	QDLVSLGISL	AEHREALLSG	ISALQARVLQ	LQGQGVQV