AiPD: Autoinhibited Protein Database

Q96T76

Gene name	MMS19
Protein name	MMS19 nucleotide excision repair protein homolog
Names	hMMS19, MET18 homolog, MMS19-like protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:64210
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

361-430 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

361-430 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q96T76

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96T76-F1	Predicted				AlphaFoldDB

818 variants for Q96T76

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA377944439 rs1320816020	2	A>V		No	ClinGen gnomAD
rs867322016 CA212643518	3	A>S		No	ClinGen gnomAD
CA5633237 rs760612601	3	A>V		No	ClinGen ExAC gnomAD
rs576915224 CA5633236	4	A>S		No	ClinGen ExAC TOPMed gnomAD
CA5633235 rs576915224	4	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5633234 rs745997272	4	A>V		No	ClinGen ExAC gnomAD
CA377944428 rs779190314	5	A>E		No	ClinGen ExAC TOPMed gnomAD
rs1465183743 CA377944430	5	A>P		No	ClinGen TOPMed
CA377944429 rs1465183743	5	A>T		No	ClinGen TOPMed
CA5633233 rs779190314	5	A>V		No	ClinGen ExAC TOPMed gnomAD
CA377944423 rs1162496755	6	A>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1348411596 CA377944426	6	A>T		No	ClinGen gnomAD
CA377944419 rs1336111896	7	V>M		No	ClinGen gnomAD
rs1418433686 CA377944414	8	E>K		No	ClinGen gnomAD
rs756645131 CA5633229	10	A>E		No	ClinGen ExAC TOPMed gnomAD
CA377944400 rs1416730519	10	A>T		No	ClinGen gnomAD
rs756645131 CA212643469	10	A>V		No	ClinGen ExAC TOPMed gnomAD
CA377944396 rs1174239492	11	A>T		No	ClinGen TOPMed
CA5633228 rs753275951	11	A>V		No	ClinGen ExAC gnomAD
rs1487941856 CA377944386	12	P>L		No	ClinGen TOPMed gnomAD
rs1002961519 CA212643429	13	M>V		No	ClinGen TOPMed gnomAD
CA5633226 rs781775813	14	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1335947406 CA377944370	14	G>S		No	ClinGen gnomAD
rs1237527463 CA377944353	15	A>S		No	ClinGen TOPMed gnomAD
CA5633225 rs757946532	15	A>V		No	ClinGen ExAC gnomAD
CA377944323 rs1307775795	17	W>*		No	ClinGen gnomAD
CA377944304 rs1365719045	18	G>A		No	ClinGen gnomAD
rs1365719045 CA377944307	18	G>D		No	ClinGen gnomAD
CA377944315 rs1386329808	18	G>S		No	ClinGen gnomAD
CA377944298 rs1328209303	19	L>V		No	ClinGen gnomAD
CA5633223 rs764933804	20	V>M		No	ClinGen ExAC gnomAD
rs372895081 CA377944264	21	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA377944261 rs372895081	21	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs372895081 CA5633222	21	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs763909809 CA5633220	24	V>L		No	ClinGen ExAC gnomAD
rs1392828892 CA377944185	25	V>L		No	ClinGen TOPMed gnomAD
rs1392828892 CA377944191	25	V>M		No	ClinGen TOPMed gnomAD
rs1247790704 CA377944111	30	G>D		No	ClinGen gnomAD
CA377944115 rs1469135263	30	G>S		No	ClinGen gnomAD
rs1247790704 CA377944108	30	G>V		No	ClinGen gnomAD
rs1015636344 CA212643371	31	P>A		No	ClinGen Ensembl
CA212643368 rs868407852	31	P>H		No	ClinGen gnomAD
CA377944102 rs868407852	31	P>L		No	ClinGen gnomAD
CA377944081 rs1468234165	32	A>V		No	ClinGen TOPMed
rs1010214556 CA212643367	33	D>A		No	ClinGen TOPMed gnomAD
rs1564726022 CA377944059	34	Q>R		No	ClinGen Ensembl
CA212643338 rs1054822094	36	A>V		No	ClinGen TOPMed
rs1260280628 CA377965225	38	D>G		No	ClinGen gnomAD
rs1482783058 CA377965164	42	G>D		No	ClinGen gnomAD
CA5633204 rs745329090	43	N>S		No	ClinGen ExAC TOPMed gnomAD
rs778293651 CA5633203	45	T>A		No	ClinGen ExAC TOPMed gnomAD
CA377965109 rs1352782326	46	V>G		No	ClinGen TOPMed
rs189297851 CA5633201	47	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA377965096 rs1353447188	48	Q>K		No	ClinGen gnomAD
rs1295082077 CA377965090	48	Q>P		No	ClinGen gnomAD
CA212687745 rs868730191	51	E>*		No	ClinGen Ensembl
rs1334673900 CA377965000	53	L>H		No	ClinGen TOPMed gnomAD
rs867698842 CA377964984	54	G>E		No	ClinGen gnomAD
rs867698842 CA212687724	54	G>V		No	ClinGen gnomAD
CA377964725 rs1288658320	55	S>F		No	ClinGen TOPMed
CA377964714 rs777152931	56	S>C		No	ClinGen ExAC gnomAD
CA5633189 rs777152931	56	S>F		No	ClinGen ExAC gnomAD
rs969366506 CA212685676	59	N>S		No	ClinGen Ensembl
rs1020572546 CA212685672	60	P>A		No	ClinGen TOPMed
CA212685669 rs1041201081	62	P>T		No	ClinGen TOPMed gnomAD
CA377964631 rs1446326134	63	R>*		No	ClinGen gnomAD
CA5633187 rs747504703	63	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA212685642 rs149505831	64	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA gnomAD
rs748870908 CA5633183	65	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5633184 rs375989793	65	R>W		No	ClinGen ESP ExAC gnomAD
CA5633182 rs777390743	66	A>T		No	ClinGen ExAC gnomAD
CA377964577 rs1430509561	67	R>*		No	ClinGen TOPMed gnomAD
rs1343905215 CA377964564	67	R>Q		No	ClinGen gnomAD
rs2275586 VAR_023448 CA5633181	68	A>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA377964551 rs2275586	68	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA377964540 rs1384214287	69	I>N		No	ClinGen gnomAD
rs375891070 CA5633180	69	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1161340779 CA377964522	70	Q>H		No	ClinGen gnomAD
rs147410690 CA5633179	71	L>F		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs991028901 CA212685610	73	S>L		No	ClinGen TOPMed gnomAD
rs567643385 CA5633178	74	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs900846217 CA212685595	75	V>L		No	ClinGen Ensembl
rs762933801 CA5633175	77	L>F		No	ClinGen ExAC TOPMed gnomAD
CA212685555 rs1035155694	78	H>R		No	ClinGen TOPMed gnomAD
CA377963951 rs1217870165	79	C>S		No	ClinGen TOPMed gnomAD
rs1447583772 CA377963946	80	H>D		No	ClinGen gnomAD
TCGA novel	82	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377963924 rs1208170615	83	L>F		No	ClinGen gnomAD
CA377963257 rs1331478433	90	H>D		No	ClinGen gnomAD
CA5633131 rs754018771	93	L>P		No	ClinGen ExAC gnomAD
rs372934465 CA5633130	95	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs29001280 CA377963203	98	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5633128 rs566453457	98	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs29001280 CA5633129 VAR_023449	98	R>W		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA377963187 rs1358434908	101	D>N		No	ClinGen TOPMed
CA5633127 rs767945905	102	H>D		No	ClinGen ExAC gnomAD
rs767945905 CA377963178	102	H>Y		No	ClinGen ExAC gnomAD
rs1466807899 CA377963167	103	H>L		No	ClinGen gnomAD
rs759942356 CA5633126	105	V>M		No	ClinGen ExAC gnomAD
rs1430787750 CA377963149	106	I>T		No	ClinGen gnomAD
rs1010983836 CA212683432	108	S>T		No	ClinGen TOPMed gnomAD
CA5633124 rs766934354	111	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1339049726 CA377963117	112	G>S		No	ClinGen gnomAD
rs761297438 CA5633123	116	L>F		No	ClinGen ExAC gnomAD
rs776215990 CA5633122	116	L>P		No	ClinGen ExAC gnomAD
CA5633100 rs201251000	119	C>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1420705690 CA377962993	120	V>M		No	ClinGen gnomAD
CA5633097 rs749268132	121	A>S		No	ClinGen ExAC TOPMed gnomAD
rs386746846 CA212682849	123	P>A		No	ClinGen Ensembl
CA5633093 rs145765259	123	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs755203536 CA5633092	123	P>H		No	ClinGen ExAC gnomAD
rs755203536 CA377962955	123	P>L		No	ClinGen ExAC gnomAD
CA5633094 rs145765259	123	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5633090 TCGA novel rs780430160	124	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC gnomAD
rs751852210 CA377962951	124	P>S		No	ClinGen ExAC TOPMed gnomAD
CA5633091 rs751852210	124	P>T		No	ClinGen ExAC TOPMed gnomAD
rs370447403 CA5633088	125	G>R		No	ClinGen ESP ExAC gnomAD
CA377962924 rs989661937	126	L>P		No	ClinGen TOPMed gnomAD
rs989661937 CA212682822	126	L>R		No	ClinGen TOPMed gnomAD
CA377962894 rs1564667462	129	S>A		No	ClinGen Ensembl
rs1589697591 CA377962741	137	E>K		No	ClinGen Ensembl
CA5633087 rs765707848	138	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1237173699 CA377962690	139	H>P		No	ClinGen TOPMed
rs1475860891 CA377962651	141	Q>E		No	ClinGen TOPMed
rs376695226 CA5633076	142	S>C		No	ClinGen ESP ExAC gnomAD
CA377962543 rs1589694174	142	S>P		No	ClinGen Ensembl
CA377962474 rs1179436572	145	Q>R		No	ClinGen TOPMed
rs781250189 CA5633075	146	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1275884991 CA377962434	148	R>*		No	ClinGen gnomAD
CA377962432 rs1373860645	148	R>Q		No	ClinGen TOPMed gnomAD
CA5633074 rs768830005	149	H>N		No	ClinGen ExAC TOPMed gnomAD
rs1310785978 CA377962398	149	H>Q		No	ClinGen Ensembl
rs535028592 CA5633073	149	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1366284917 CA377962392	150	T>A		No	ClinGen TOPMed
rs1564666036 CA377962335	152	Y>C		No	ClinGen Ensembl
CA5633072 rs140745834	153	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5633070 rs750820218	154	I>V		No	ClinGen ExAC gnomAD
rs1172021362 CA377962286	155	I>T		No	ClinGen gnomAD
rs1427003468 CA377962266	157	N>D		No	ClinGen gnomAD
TCGA novel	157	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779462861 CA5633069	160	R>*		No	ClinGen ExAC gnomAD
rs779462861 CA377962200	160	R>G		No	ClinGen ExAC gnomAD
CA377962194 rs757720091	160	R>P		No	ClinGen ExAC gnomAD
rs757720091 CA5633068	160	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA377962172 rs373557835	162	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs200904065 CA5633066	162	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA5633067 rs373557835	162	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs751225762 CA5633064	164	E>D		No	ClinGen ExAC gnomAD
CA377962023 rs1237723709	165	E>D		No	ClinGen gnomAD
CA5633063 rs766012912	165	E>K		No	ClinGen ExAC gnomAD
TCGA novel	166	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749790108 CA5633047	167	K>Q		No	ClinGen ExAC gnomAD
CA5633046 rs778464031	167	K>R		No	ClinGen ExAC TOPMed gnomAD
rs754530977 CA5633045	168	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1016080228 CA212681895	170	G>R		No	ClinGen TOPMed
CA5633044 rs751168634	171	A>T		No	ClinGen ExAC gnomAD
CA377961920 rs1402964079	173	F>L		No	ClinGen gnomAD
rs765996017 CA5633043	174	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1230132946 CA377961885	175	F>V		No	ClinGen gnomAD
CA5633042 rs757987962	178	I>T		No	ClinGen ExAC gnomAD
CA5633041 rs148003793	179	Q>R		No	ClinGen ESP ExAC TOPMed
TCGA novel	180	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1247040143 CA377961762	181	M>I		No	ClinGen TOPMed
CA377961766 rs1297835978	181	M>R		No	ClinGen gnomAD
CA377961777 rs1207923125	181	M>V		No	ClinGen TOPMed
CA377961748 rs1441127476	182	D>V		No	ClinGen gnomAD
CA377961680 rs1489309872	186	D>H		No	ClinGen TOPMed
rs143513996 CA5633039	188	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1466060056 CA377961643	188	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA377961639 rs1393688756	189	N>D		No	ClinGen gnomAD
rs535727506 CA5633036	193	A>G		No	ClinGen ExAC TOPMed gnomAD
CA377960883 rs764089662	193	A>P		No	ClinGen ExAC gnomAD
CA5633037 rs764089662	193	A>T		No	ClinGen ExAC gnomAD
CA5633035 rs775446331	194	F>L		No	ClinGen ExAC gnomAD
CA5633034 rs772271776	195	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1199706710 CA377960809	195	R>L		No	ClinGen gnomAD
CA5633032 rs771167618	196	I>M		No	ClinGen ExAC gnomAD
rs29001285 VAR_023450 CA5633030	197	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs746448644 CA5633027	198	H>R		No	ClinGen ExAC TOPMed gnomAD
CA5633028 rs756698055	198	H>Y		No	ClinGen ExAC gnomAD
CA377960728 rs1589691026	199	D>A		No	ClinGen Ensembl
rs750024763 CA5633024	202	S>F		No	ClinGen ExAC gnomAD
CA5633020 COSM922035 rs763962744	204	D>E	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA377960608 rs1350859234	204	D>N		No	ClinGen TOPMed
rs753694591 CA5633021	204	D>V		No	ClinGen ExAC
CA377960590 rs1184258959	205	Y>C		No	ClinGen gnomAD
CA5632999 rs752544521	210	F>S		No	ClinGen ExAC gnomAD
rs767556632 CA5632998	216	E>K		No	ClinGen ExAC gnomAD
CA377960330 rs1407084480	217	V>A		No	ClinGen Ensembl
CA5632997 rs759520653	218	T>S		No	ClinGen ExAC TOPMed gnomAD
CA377960300 rs1264092565	219	S>F		No	ClinGen gnomAD
rs1343210833 CA377960283	220	C>Y		No	ClinGen gnomAD
CA377960237 rs1414722299	222	F>L		No	ClinGen TOPMed
rs773659744 CA5632993	225	D>G		No	ClinGen ExAC gnomAD
rs763296523 CA5632994	225	D>N		No	ClinGen ExAC TOPMed gnomAD
rs762280812 CA5632991	228	P>S		No	ClinGen ExAC gnomAD
CA5632974 rs750644892	230	P>H		No	ClinGen ExAC TOPMed gnomAD
CA377959140 rs750644892	230	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1386811408 CA377959130	231	N>D		No	ClinGen TOPMed
rs1467624495 CA377959108	232	D>H		No	ClinGen gnomAD
rs1380511318 CA377959093	233	P>T		No	ClinGen TOPMed
CA5632973 rs765625115	234	H>R		No	ClinGen ExAC TOPMed gnomAD
rs143805215 CA5632972	235	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA212676430 rs964594187	236	I>V		No	ClinGen gnomAD
CA5632971 rs777071578	237	Q>H		No	ClinGen ExAC gnomAD
CA5632970 rs768978319	238	R>G		No	ClinGen ExAC gnomAD
CA377958916 rs761277379	240	D>H		No	ClinGen ExAC gnomAD
CA5632969 rs761277379	240	D>N		No	ClinGen ExAC gnomAD
CA377958883 rs1196567857	241	L>F		No	ClinGen gnomAD
rs773804048 CA5632968	242	I>N		No	ClinGen ExAC gnomAD
TCGA novel	242	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5632967 rs770408439	246	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs770408439 CA212676412	246	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5632966 rs199857462	246	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200842234 CA5632964	247	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747831106 CA5632963	248	V>A		No	ClinGen ExAC gnomAD
rs1375758434 CA377958684	250	A>S		No	ClinGen gnomAD
TCGA novel	250	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5632962 COSM245735 rs377440701	252	T>A	prostate [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs754818809 CA5632961	252	T>I		No	ClinGen ExAC gnomAD
rs1392953500 CA377958626	253	P>Q		No	ClinGen gnomAD
rs1392953500 CA377958625	253	P>R		No	ClinGen gnomAD
rs141375872 CA5632958	253	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5632957 rs765501642	254	R>*		No	ClinGen ExAC gnomAD
rs765501642 CA5632956	254	R>G		No	ClinGen ExAC gnomAD
rs201599275 CA212676329	254	R>Q		No	ClinGen 1000Genomes gnomAD
TCGA novel	257	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377957942 rs1488440107	258	F>S		No	ClinGen TOPMed gnomAD
CA377957924 rs1217945457	260	L>P		No	ClinGen TOPMed
CA377957920 rs1217862744 COSM3808129	261	P>S	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA5632937 rs757376170	270	E>Q		No	ClinGen ExAC gnomAD
CA377957772 rs1188007843	275	K>R		No	ClinGen TOPMed
rs1589640829 CA377957733	278	S>F		No	ClinGen Ensembl
TCGA novel	278	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1358846112 CA377957727	279	L>P		No	ClinGen gnomAD
rs756454424 CA377957715	280	Q>H		No	ClinGen ExAC gnomAD
CA212675566 rs997694127	285	C>Y		No	ClinGen Ensembl
CA377957611 rs1589636900	287	A>T		No	ClinGen Ensembl
rs748104419 CA212675564	288	V>A		No	ClinGen TOPMed gnomAD
rs748104419 CA212675563	288	V>G		No	ClinGen TOPMed gnomAD
CA5632916 rs189804656	288	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1564644742 CA377957574	291	Q>K		No	ClinGen Ensembl
rs1017184015 CA212675555	292	K>R		No	ClinGen TOPMed gnomAD
rs1380216534 CA377957550	293	E>K		No	ClinGen gnomAD
CA5632913 rs777991412	296	D>E		No	ClinGen ExAC gnomAD
TCGA novel	298	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1462489708 CA377957452	301	L>P		No	ClinGen gnomAD
CA377957438 rs1348783460	302	W>*		No	ClinGen gnomAD
CA5632910 rs146648604	305	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5632911 rs201359735	305	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5632908 rs144196276	306	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs29001306 CA5632907 VAR_023451	306	R>H		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs29001306 CA212675508	306	R>L		No	ClinGen ExAC TOPMed gnomAD
CA5632893 rs748346482 CA377957312	310	F>L		No	ClinGen ExAC gnomAD
TCGA novel	310	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377957308 rs1423711081	311	Q>*		No	ClinGen gnomAD
CA377957290 rs1192930730	312	T>M		No	ClinGen gnomAD
rs1262649565 CA377957272	314	S>N		No	ClinGen gnomAD
rs751925259 CA377957250	316	R>L		No	ClinGen ExAC TOPMed gnomAD
CA5632890 rs751925259	316	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs755330219 CA5632891	316	R>W		No	ClinGen ExAC gnomAD
CA5632889 rs780554263	317	V>L		No	ClinGen ExAC TOPMed gnomAD
CA377957209 rs1311488355	320	E>D		No	ClinGen gnomAD
rs569226573 CA377957188	323	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753350329 CA5632887	323	A>T		No	ClinGen ExAC gnomAD
rs569226573 CA5632886	323	A>V	Variant assessed as Somatic; 6.273e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA377957182 rs376105193	324	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA5632883 rs376105193	324	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs867256534 CA212674987	325	L>F		No	ClinGen Ensembl
rs374028842 CA5632881	326	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1289767638 CA377957164	326	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs766297566 CA5632880	327	S>F		No	ClinGen ExAC TOPMed
CA377957145 rs1284274701	328	L>V		No	ClinGen gnomAD
CA377957129 rs1422986827	330	A>T		No	ClinGen gnomAD
rs762817304 CA5632879	330	A>V		No	ClinGen ExAC gnomAD
CA377957115 rs1343867713	331	C>Y		No	ClinGen TOPMed gnomAD
COSM1188015 rs769834133 CA5632877	332	L>F	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA5632876 rs547109301	334	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5632875 rs141381958	334	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1205471703 CA377957074	335	S>C		No	ClinGen gnomAD
rs1216279815 CA377957065	336	V>A		No	ClinGen TOPMed gnomAD
CA5632873 rs747334229	336	V>M		No	ClinGen ExAC gnomAD
rs746343414 CA5632870	340	D>N		No	ClinGen ExAC gnomAD
rs1426392329 CA377957024	340	D>V		No	ClinGen TOPMed
CA212674915 rs746343414	340	D>Y		No	ClinGen ExAC gnomAD
rs1305008713 CA377956980	342	E>D		No	ClinGen TOPMed gnomAD
CA377956977 rs759785627	343	D>N		No	ClinGen TOPMed
CA212674893 rs759785627	343	D>Y		No	ClinGen TOPMed
TCGA novel	346	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs549219678 CA212674888	347	S>A		No	ClinGen 1000Genomes gnomAD
rs549219678 CA377956896	347	S>P		No	ClinGen 1000Genomes gnomAD
rs1321998079 CA377956858	349	L>F		No	ClinGen TOPMed
CA5632868 rs779607559	353	L>V		No	ClinGen ExAC gnomAD
rs1185229100 CA377956756	354	Q>*		No	ClinGen gnomAD
CA5632849 rs150845089	355	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs367936962 CA5632848	357	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA377955833 rs1336913422	359	H>R		No	ClinGen gnomAD
CA5632846 rs374031872	360	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs139679119 CA5632845	362	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs780774227 CA5632844	363	P>L		No	ClinGen ExAC TOPMed gnomAD
rs761771953 CA5632841	364	D>A		No	ClinGen ExAC gnomAD
CA5632842 rs765094626	364	D>H		No	ClinGen ExAC gnomAD
rs29001309 CA377955753	365	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5632840 rs29001309 VAR_023452	365	M>V		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA5632838 rs760853396	368	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1264352436 CA377955663	370	P>H		No	ClinGen gnomAD
rs1050968876 CA212674206	371	S>G		No	ClinGen Ensembl
CA377955646 rs1408512610	371	S>R		No	ClinGen TOPMed
CA5632837 rs775574966	373	K>Q		No	ClinGen ExAC gnomAD
CA377955626 rs1305719354	373	K>R		No	ClinGen TOPMed
CA5632836 rs772398604	375	L>W		No	ClinGen ExAC TOPMed gnomAD
rs759925116 CA5632835	376	Q>R		No	ClinGen ExAC gnomAD
rs774884117 CA5632834	377	A>S		No	ClinGen ExAC TOPMed gnomAD
CA377955566 rs1351952258	377	A>V		No	ClinGen gnomAD
rs749786298 CA5632832	380	G>D		No	ClinGen ExAC gnomAD
CA5632833 rs771513835	380	G>S		No	ClinGen ExAC gnomAD
TCGA novel	381	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1284053574 CA377955539	381	A>T		No	ClinGen TOPMed gnomAD
CA377955530 rs1399595357	382	S>T		No	ClinGen gnomAD
rs1358897369 CA377955517	383	A>P		No	ClinGen gnomAD
rs768046328 CA5632830	384	R>G		No	ClinGen ExAC TOPMed gnomAD
rs533058221 CA5632829	384	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs768046328 CA5632831	384	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	385	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779512757 CA5632828	386	C>F		No	ClinGen ExAC gnomAD
CA377955482 rs779512757	386	C>Y		No	ClinGen ExAC gnomAD
rs758072352 CA5632827	389	V>F		No	ClinGen ExAC gnomAD
rs971867001 CA212674134	390	T>I		No	ClinGen TOPMed gnomAD
rs971867001 CA377955442	390	T>S		No	ClinGen TOPMed gnomAD
rs1309611261 CA377955438	391	S>R		No	ClinGen TOPMed gnomAD
CA5632825 rs756719334	392	N>S		No	ClinGen ExAC TOPMed gnomAD
rs764162653 CA5632822	393	V>A		No	ClinGen ExAC TOPMed gnomAD
CA5632823 rs753745373	393	V>I		No	ClinGen ExAC gnomAD
CA377955379 rs1169650392	395	P>L		No	ClinGen TOPMed
rs764658739 CA212674111	401	F>L		No	ClinGen Ensembl
rs1278430625 CA377955299	401	F>S		No	ClinGen gnomAD
CA5632821 rs760661491	402	H>Y		No	ClinGen ExAC gnomAD
CA377955240 rs1263786295	404	H>Q		No	ClinGen TOPMed gnomAD
CA5632819 rs752837623	405	S>G		No	ClinGen ExAC TOPMed gnomAD
rs779645322 CA377955131	407	S>C		No	ClinGen ExAC TOPMed gnomAD
CA5632808 rs779645322	407	S>G		No	ClinGen ExAC TOPMed gnomAD
CA212673612 rs745497598	407	S>R		No	ClinGen ExAC TOPMed gnomAD
CA5632807 rs771665774	407	S>T		No	ClinGen ExAC TOPMed gnomAD
CA377955107 rs1215362556	408	S>R		No	ClinGen gnomAD
rs1285766832 CA377955101	409	Q>*		No	ClinGen TOPMed
rs29001311 CA5632805	409	Q>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs29001311 RCV000948850 CA5632804 VAR_023453	409	Q>P		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5632801 rs375504836	410	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5632802 rs543145774	410	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs906153781 CA212673543	411	R>Q		No	ClinGen TOPMed gnomAD
CA5632800 rs752667384	411	R>W		No	ClinGen ExAC gnomAD
CA5632798 rs531284050	413	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751823185 CA5632797	416	M>I		No	ClinGen ExAC gnomAD
rs1171948613 CA377955020	416	M>V		No	ClinGen gnomAD
CA377954977 rs1412645061	419	G>C		No	ClinGen gnomAD
rs766764376 CA5632796	420	F>L		No	ClinGen ExAC TOPMed gnomAD
CA5632794 rs773628115	427	W>R		No	ClinGen ExAC gnomAD
rs765620182 CA5632793	427	W>S		No	ClinGen ExAC TOPMed gnomAD
rs377636828 CA5632792	429	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA377954769 rs1589618104	431	D>G		No	ClinGen Ensembl
rs750703480 CA5632777	433	D>A		No	ClinGen ExAC TOPMed gnomAD
CA5632790 rs771540835	433	D>N		No	ClinGen ExAC gnomAD
VAR_023454 CA5632775 rs29001314	434	Q>E		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
TCGA novel	435	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1406366230 CA377954629	435	R>S		No	ClinGen gnomAD
rs1452843383 CA377954625	436	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5632774 rs777192078	440	F>V		No	ClinGen ExAC gnomAD
CA5632773 rs142839489	441	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA377954537 rs1452102976	442	D>A		No	ClinGen gnomAD
rs1589613022 CA377954438	448	V>G		No	ClinGen Ensembl
rs1160447937 CA377954434	449	F>L		No	ClinGen gnomAD
rs773857566 CA5632771	450	M>L		No	ClinGen ExAC gnomAD
CA377954364 rs1201724023	453	T>I		No	ClinGen gnomAD
rs372897413 CA212673001	454	D>H		No	ClinGen ESP
CA5632768 rs772777244	455	P>L		No	ClinGen ExAC gnomAD
CA5632769 rs748944765	455	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1441165280 CA377954315	457	T>A		No	ClinGen gnomAD
CA212672982 rs57082144	459	L>F		No	ClinGen Ensembl
CA212672974 rs747948023	459	L>P		No	ClinGen ExAC TOPMed gnomAD
rs747948023 CA5632766	459	L>R		No	ClinGen ExAC TOPMed gnomAD
CA5632765 rs781217674	461	L>F		No	ClinGen ExAC gnomAD
CA377954253 rs1206081499	461	L>P		No	ClinGen gnomAD
rs368992028 CA5632764	462	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA5632763 rs368992028	462	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA377954207 rs1322786774	465	R>C		No	ClinGen TOPMed gnomAD
rs376331250 CA5632762	465	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1422728606 CA377954188	466	T>I		No	ClinGen TOPMed
rs750629796 CA377954143	470	L>V		No	ClinGen ExAC gnomAD
rs369929027 CA212672958	471	G>S		No	ClinGen ESP TOPMed gnomAD
rs375489361 CA5632759	473	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA212672946 rs932411800	474	P>L		No	ClinGen TOPMed
CA212672723 rs763059621	483	E>*		No	ClinGen Ensembl
CA212672701 rs990319475	483	E>D		No	ClinGen Ensembl
CA212672722 rs775552440	483	E>V		No	ClinGen Ensembl
CA5632740 rs757427395	489	L>M		No	ClinGen ExAC gnomAD
CA5632736 rs753193808	497	E>K		No	ClinGen ExAC gnomAD
rs767964642 CA5632734	499	S>A		No	ClinGen ExAC gnomAD
CA377953445 rs1270339440	499	S>F		No	ClinGen TOPMed
CA5632733 rs762464580	500	Q>K		No	ClinGen ExAC gnomAD
rs778033107 CA5632720	503	R>T		No	ClinGen ExAC gnomAD
rs1294353070 CA377953403	504	V>M		No	ClinGen gnomAD
TCGA novel	505	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	505	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754178939 CA5632719	506	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	507	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1305503211 CA377953371	509	A>S		No	ClinGen TOPMed
rs1261436194 CA377953357	511	G>A		No	ClinGen TOPMed gnomAD
rs1589607747 CA377953355	512	T>P		No	ClinGen Ensembl
CA377953342 rs1291369419	514	A>S		No	ClinGen gnomAD
rs112048245 CA212672361	515	A>T		No	ClinGen Ensembl
CA377953326 rs1236399341	517	Y>H		No	ClinGen TOPMed
rs1336415965 CA377953290	522	S>N		No	ClinGen TOPMed gnomAD
CA5632714 rs749897258	523	S>C		No	ClinGen ExAC TOPMed gnomAD
CA212672347 rs749897258	523	S>G		No	ClinGen ExAC TOPMed gnomAD
rs756867475 CA5632712	524	H>Y		No	ClinGen ExAC
VAR_023455 rs17112809 CA5632710	526	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5632709 rs760491036	527	P>H		No	ClinGen ExAC gnomAD
CA212672314 rs891446412	527	P>S		No	ClinGen TOPMed
TCGA novel	528	K>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767452382 CA5632707	528	K>R		No	ClinGen ExAC gnomAD
CA377953248 rs1198105588	529	L>F		No	ClinGen gnomAD
CA377953244 rs774399178	530	A>S		No	ClinGen ExAC TOPMed gnomAD
CA5632705 rs774399178	530	A>T		No	ClinGen ExAC TOPMed gnomAD
CA377953225 rs1251969075	532	E>D		No	ClinGen gnomAD
rs1446786304 CA377953229	532	E>K		No	ClinGen gnomAD
rs568029669 CA5632703	532	E>V		No	ClinGen 1000Genomes ExAC gnomAD
CA212672278 COSM199292 rs927043964	534	R>C	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA5632702 rs773362714	534	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1589607108 CA377953213	535	V>L		No	ClinGen Ensembl
rs770005386 CA5632701	536	G>R		No	ClinGen ExAC gnomAD
CA212672216 rs372673030	538	S>T		No	ClinGen ESP TOPMed
CA5632683 rs762951248	539	N>D		No	ClinGen ExAC gnomAD
rs1172406568 CA377953175	539	N>I		No	ClinGen Ensembl
rs1336000436 CA377953164	541	T>A		No	ClinGen gnomAD
rs552022013 CA5632682	542	N>K		No	ClinGen 1000Genomes ExAC gnomAD
rs368460281 CA5632680	543	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs776952844 CA5632679	545	E>K		No	ClinGen ExAC gnomAD
CA5632678 rs768898430	546	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1461881363 CA377953104	550	S>P		No	ClinGen TOPMed gnomAD
rs777449441 CA5632674	551	R>L		No	ClinGen ExAC TOPMed gnomAD
rs777449441 CA5632673	551	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5632675 rs150301929	551	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA212672172 rs964735293	552	H>L		No	ClinGen TOPMed gnomAD
CA5632672 rs200137148	553	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA5632671 rs752264553	554	C>Y		No	ClinGen ExAC gnomAD
rs754667347 CA5632669	557	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA212672139 rs141183437	557	Q>R		No	ClinGen ESP TOPMed gnomAD
VAR_023456 rs12360068 CA5632668	558	A>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1243645340 CA377953015	560	S>L		No	ClinGen gnomAD
rs762898206 CA5632666	561	A>T		No	ClinGen ExAC gnomAD
rs559964542 CA5632665	562	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA377952985 rs1264523527	564	T>A		No	ClinGen TOPMed
rs1440839331 CA377952981	564	T>I		No	ClinGen gnomAD
rs1352327634 CA377952977	565	H>N		No	ClinGen gnomAD
CA5632664 rs376926583	566	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376926583 CA212672130	566	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA377952943 rs1430060953	568	I>V		No	ClinGen gnomAD
rs529472035 CA5632662	569	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768936949 CA377952913	570	K>N		No	ClinGen ExAC gnomAD
TCGA novel	574	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772661047 CA5632658	579	H>D		No	ClinGen ExAC gnomAD
rs1219989079 CA377952799	582	Q>E		No	ClinGen gnomAD
CA377952348 rs1159913405	586	G>E		No	ClinGen gnomAD
CA377952341 rs779748607	587	N>I		No	ClinGen ExAC gnomAD
rs779748607 CA5632630	587	N>S		No	ClinGen ExAC gnomAD
CA377952313 rs1425264377	591	Q>R		No	ClinGen TOPMed
rs1185736453 CA377952308	592	S>P		No	ClinGen gnomAD
CA377952286 rs866007879	595	V>F		No	ClinGen TOPMed gnomAD
CA212667719 rs866007879	595	V>I		No	ClinGen TOPMed gnomAD
CA5632624 rs753814087	596	I>M		No	ClinGen ExAC TOPMed gnomAD
CA377952276 rs1260764907	597	A>T		No	ClinGen gnomAD
CA377952271 rs1332034288	597	A>V		No	ClinGen TOPMed
rs1234925469 CA377952270	598	V>I		No	ClinGen TOPMed gnomAD
rs1408182477 CA377952250	600	Q>H		No	ClinGen Ensembl
CA377952240 rs764214024	602	L>F		No	ClinGen ExAC gnomAD
CA5632622 rs756192005	602	L>H		No	ClinGen ExAC gnomAD
CA5632623 rs764214024	602	L>I		No	ClinGen ExAC gnomAD
rs1279118296 CA377952233	603	R>T		No	ClinGen TOPMed
CA377952227 rs1364602931	604	Q>*		No	ClinGen gnomAD
CA377952228 rs1364602931	604	Q>E		No	ClinGen gnomAD
CA377952222 rs1321791209	604	Q>H		No	ClinGen gnomAD
CA377952229 rs1364602931	604	Q>K		No	ClinGen gnomAD
rs1320235092 CA377952226	604	Q>P		No	ClinGen TOPMed
rs554579813 CA5632620	605	M>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1452607659 CA377952219	605	M>V		No	ClinGen TOPMed gnomAD
CA377952204 rs1466700914	607	E>G		No	ClinGen TOPMed gnomAD
CA377952198 rs1564627038	608	K>E		No	ClinGen Ensembl
rs1372734009 CA377952182	610	Q>E		No	ClinGen gnomAD
rs759908743 CA5632619	612	D>N		No	ClinGen ExAC TOPMed gnomAD
CA5632618 rs774883901	615	S>G		No	ClinGen ExAC gnomAD
rs192704236 CA212667627	616	C>Y		No	ClinGen 1000Genomes gnomAD
rs1163399791 CA377952127	617	W>L		No	ClinGen Ensembl
CA377952131 rs1418144441	617	W>R		No	ClinGen Ensembl
CA5632616 rs146630553	618	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA377952121 rs1589589071	618	Y>D		No	ClinGen Ensembl
rs376209515 CA5632614	621	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA5632613 rs746578414	622	T>R		No	ClinGen ExAC gnomAD
CA377952081 rs1344725436	624	I>L		No	ClinGen gnomAD
rs775066197 CA377952075	625	P>A		No	ClinGen ExAC gnomAD
CA377952071 rs1381253430	625	P>L		No	ClinGen gnomAD
CA5632612 rs775066197	625	P>T		No	ClinGen ExAC gnomAD
CA377952069 rs1471267548	626	C>R		No	ClinGen gnomAD
CA377952066 rs1193704680	626	C>S		No	ClinGen TOPMed
CA377952049 rs1314869302	629	A>S		No	ClinGen gnomAD
CA5632611 rs780599789	631	A>T		No	ClinGen ExAC gnomAD
rs745623942 CA5632610	632	V>M		No	ClinGen ExAC gnomAD
rs568987660 CA5632609	633	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA377952005 rs1372147298	636	M>T		No	ClinGen gnomAD
rs371514917 CA5632608	637	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs143832985 CA5632588	638	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	638	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs143832985 CA5632587	638	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs769879761 CA5632582	647	V>A		No	ClinGen ExAC TOPMed gnomAD
rs781396986 CA5632578	653	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1458354992 CA377951880	653	V>L		No	ClinGen gnomAD
rs938096006 CA212666593	655	A>V		No	ClinGen TOPMed
CA377951853 rs1237897023	657	M>I		No	ClinGen TOPMed
rs758731239 CA5632574	657	M>V		No	ClinGen ExAC TOPMed gnomAD
CA5632572 rs765736027	661	I>M		No	ClinGen ExAC gnomAD
CA5632573 rs750758487	661	I>T		No	ClinGen ExAC TOPMed gnomAD
CA377951825 rs1465382186	662	G>D		No	ClinGen gnomAD
CA377951823 rs1465382186	662	G>V		No	ClinGen gnomAD
CA5632571 rs566833883	663	T>A		No	ClinGen 1000Genomes ExAC
rs1262630655 CA377951820 COSM293238	663	T>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs548429569 CA5632570	665	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759116491 CA5632568	670	P>A		No	ClinGen ExAC gnomAD
rs921364723 CA212666087	671	E>D		No	ClinGen TOPMed gnomAD
rs779217132 CA5632553	674	A>T		No	ClinGen ExAC gnomAD
TCGA novel	674	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5632552 rs757665859	675	Q>L		No	ClinGen ExAC gnomAD
CA377951710 rs1181324240	679	H>Y		No	ClinGen gnomAD
CA5632550 rs367731247	680	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5632551 rs367731247	680	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5632549 rs754414862	681	V>M		No	ClinGen ExAC gnomAD
rs957557553 CA212666011	682	P>L		No	ClinGen TOPMed
CA5632548 rs149826908	682	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA377951656 rs1284306888	687	G>D		No	ClinGen TOPMed gnomAD
rs530647365 CA212665998	688	N>D		No	ClinGen Ensembl
CA377951651 rs144393926	688	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144393926 CA5632544	688	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs571658218 CA5632543	689	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1365407022 CA377951603	695	N>K		No	ClinGen gnomAD
rs776645737 CA5632541	696	S>G		No	ClinGen ExAC gnomAD
CA377951591 rs1589572203	697	F>S		No	ClinGen Ensembl
CA5632540 rs140537667	698	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1404696013 CA377951579	699	S>N		No	ClinGen TOPMed
CA5632538 rs374492111	701	F>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1254253012 CA377951554	702	Q>H		No	ClinGen TOPMed gnomAD
CA212665875 rs1000088355	702	Q>R		No	ClinGen Ensembl
rs1183253585 CA377951541	704	F>L		No	ClinGen gnomAD
rs1483254999 CA377951533	705	Q>H		No	ClinGen gnomAD
TCGA novel	705	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772030095 CA377951513	706	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1469426982 CA377951500	708	S>F		No	ClinGen gnomAD
rs746025168 CA5632514	709	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA377951492 rs1589570233	710	G>E		No	ClinGen Ensembl
CA5632512 rs530804069	710	G>W		No	ClinGen 1000Genomes ExAC gnomAD
rs749601798 CA5632511	711	Q>P		No	ClinGen ExAC gnomAD
CA5632510 rs370000754	713	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA212665769 rs1051013158	713	R>W		No	ClinGen TOPMed gnomAD
rs1249302470 CA377951461	715	I>M		No	ClinGen gnomAD
CA5632509 rs756553614	717	L>V		No	ClinGen ExAC gnomAD
rs920218397 CA212665754	718	L>P		No	ClinGen Ensembl
CA377951444 rs375806531	719	M>L		No	ClinGen ESP ExAC gnomAD
rs375806531 CA5632507	719	M>V		No	ClinGen ESP ExAC gnomAD
rs1313113519 CA377951432	720	A>V		No	ClinGen gnomAD
rs1297384010 CA377951428	721	F>S		No	ClinGen gnomAD
rs757781474 CA5632506	722	V>A		No	ClinGen ExAC gnomAD
rs778660368 CA5632504	723	C>R		No	ClinGen ExAC gnomAD
rs1036069369 CA377951394	727	R>*		No	ClinGen gnomAD
rs1036069369 CA212665689	727	R>G		No	ClinGen gnomAD
rs1304778386 CA377951391	727	R>P		No	ClinGen gnomAD
rs1304778386 CA377951392	727	R>Q		No	ClinGen gnomAD
CA5632503 rs757000759	728	N>D		No	ClinGen ExAC gnomAD
rs1286675389 CA377951356	731	I>V		No	ClinGen gnomAD
rs1230504123 CA377951348	732	P>S		No	ClinGen gnomAD
rs1352069676 CA377951342	733	Q>*		No	ClinGen gnomAD
CA5632489 rs769229268	734	L>M		No	ClinGen ExAC gnomAD
CA377951316 rs1311035293	737	L>F		No	ClinGen TOPMed
CA5632488 rs745331754	737	L>P		No	ClinGen ExAC gnomAD
CA5632487 rs76507568	738	M>T		No	ClinGen 1000Genomes ExAC gnomAD
CA377951301 rs1457967840	739	R>Q		No	ClinGen gnomAD
CA377951288 rs1410642366	741	L>F		No	ClinGen gnomAD
rs1156478763 CA377951261	745	S>N		No	ClinGen gnomAD
rs1589566838 CA377951253	746	C>Y		No	ClinGen Ensembl
rs1564619755 CA377951245	747	C>Y		No	ClinGen Ensembl
rs756875823 CA5632486	748	H>Q		No	ClinGen ExAC gnomAD
rs753526644 CA5632485	749	S>N		No	ClinGen ExAC gnomAD
CA377951231 rs1413110780	749	S>R		No	ClinGen gnomAD
rs1589566737 CA377951219	750	C>W		No	ClinGen Ensembl
CA377951213 rs1450329864	751	P>L		No	ClinGen gnomAD
CA377951216 rs1564619681	751	P>S		No	ClinGen Ensembl
CA377951208 rs1211029086	752	F>S		No	ClinGen gnomAD
CA377951186 rs1262082572	756	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA5632482 rs752547071	758	A>T		No	ClinGen ExAC gnomAD
rs1207853620 CA377951159	760	C>G		No	ClinGen TOPMed
rs1279863666 CA377951131	764	L>F		No	ClinGen gnomAD
CA377951126 rs1232247572	765	L>F		No	ClinGen TOPMed gnomAD
rs1232247572 CA377951125	765	L>I		No	ClinGen TOPMed gnomAD
CA5632480 rs759496784	766	N>K		No	ClinGen ExAC gnomAD
rs1441612312 CA377951112	767	K>E		No	ClinGen gnomAD
rs1280391700 CA377951070	771	G>E		No	ClinGen gnomAD
CA212665063 rs908251940	772	Q>R		No	ClinGen TOPMed
CA377951047 rs747853834	775	D>N		No	ClinGen ExAC gnomAD
rs747853834 CA5632465	775	D>Y		No	ClinGen ExAC gnomAD
TCGA novel	778	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377950986 rs1589561429	784	K>E		No	ClinGen Ensembl
rs1313804484 CA377950983	784	K>R		No	ClinGen TOPMed gnomAD
rs758416659 CA377950979	785	V>L		No	ClinGen ExAC gnomAD
CA5632460 rs758416659	785	V>M		No	ClinGen ExAC gnomAD
rs1369144077 CA377950963	787	A>D		No	ClinGen gnomAD
CA377950959 rs1171011157	788	G>R		No	ClinGen gnomAD
CA377950958 rs1171011157	788	G>S		No	ClinGen gnomAD
VAR_023457 rs3740526 CA5632459	790	G>D		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA377950945 rs3740526	790	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1161541464 CA595641162	791	S>*		No	ClinGen gnomAD
CA5632458 rs765338368	791	S>Y		No	ClinGen ExAC
CA377950922 rs1473865523	794	C>Y		No	ClinGen gnomAD
CA212664985 rs911893757	795	R>C		No	ClinGen gnomAD
rs751392134 CA5632457	795	R>H		No	ClinGen ExAC gnomAD
rs1482588145 CA377950913	796	S>C		No	ClinGen gnomAD
CA212664974 rs868668959	796	S>N		No	ClinGen Ensembl
TCGA novel	797	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1249408242 CA377950900	798	A>T		No	ClinGen gnomAD
CA5632456 rs776765767	799	F>I		No	ClinGen ExAC gnomAD
rs1438354663 CA377950875	802	L>F		No	ClinGen gnomAD
CA212664953 rs987502664	803	L>H		No	ClinGen TOPMed
CA377950863 rs1288436355	804	W>R		No	ClinGen gnomAD
rs1160181370 CA377950842	805	V>L		No	ClinGen gnomAD
CA377950837 rs1419424395	806	T>A		No	ClinGen gnomAD
CA377950793 rs1455559952	813	Y>H		No	ClinGen gnomAD
rs759053298 CA212664743	814	H>R		No	ClinGen gnomAD
rs1422875748 CA377950784	814	H>Y		No	ClinGen gnomAD
CA212664706 rs148484891	818	S>C		No	ClinGen ESP TOPMed gnomAD
CA377950757 rs148484891	818	S>F		No	ClinGen ESP TOPMed gnomAD
CA5632435 rs761061909	818	S>P		No	ClinGen ExAC TOPMed gnomAD
CA377950747 rs1221397113	820	L>I		No	ClinGen gnomAD
CA5632434 rs374461373	820	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs868177043 CA212664685	821	T>I		No	ClinGen TOPMed gnomAD
rs1432970820 CA377950732	822	A>V		No	ClinGen gnomAD
CA5632432 rs369840797	823	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5632433 rs144416594 COSM922030	823	R>W	Variant assessed as Somatic; 9.989e-05 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA377950713 rs1422816252	824	L>F		No	ClinGen gnomAD
rs543109526 CA5632416	825	M>L		No	ClinGen 1000Genomes ExAC gnomAD
CA377950706 rs1486183888	825	M>T		No	ClinGen TOPMed gnomAD
CA5632415 rs138208483	827	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA212664341 rs748365436	832	E>Q		No	ClinGen Ensembl
CA212664340 rs890983409	835	P>S		No	ClinGen gnomAD
TCGA novel	835	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5632413 rs756434217	837	A>V		No	ClinGen ExAC gnomAD
rs1254980274 CA377950618	839	D>N		No	ClinGen Ensembl
CA212664333 rs755895248	840	G>D		No	ClinGen Ensembl
rs753004066 CA5632412	841	F>V		No	ClinGen ExAC gnomAD
rs767967788 CA5632411	842	S>F		No	ClinGen ExAC gnomAD
CA377950591 rs1564615039	843	L>M		No	ClinGen Ensembl
CA5632409 rs759888761	844	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs766812305 CA5632407	845	M>I		No	ClinGen ExAC gnomAD
CA5632408 rs752042330	845	M>T		No	ClinGen ExAC gnomAD
CA5632406 rs761341063	847	D>E		No	ClinGen ExAC
rs925731396 CA212664321	847	D>H		No	ClinGen TOPMed
rs776150471 CA5632405	851	V>M		No	ClinGen ExAC TOPMed gnomAD
CA377950532 rs1347648835	852	L>P		No	ClinGen gnomAD
CA5632402 rs191066247	854	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5632403 rs191066247	854	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs372694521 CA5632400	854	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA5632401 rs372694521	854	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA377950521 rs1470918152	855	A>T		No	ClinGen gnomAD
rs770795377 CA5632398	856	G>S		No	ClinGen ExAC gnomAD
CA377950508 rs1251864078	857	H>R		No	ClinGen gnomAD
rs199693165 CA5632397	857	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA377950499 rs1209812508	858	A>V		No	ClinGen gnomAD
CA5632394 rs145658711	859	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1972262 rs756307565 CA5632395	859	E>K	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1328760489 CA377950488	860	V>A		No	ClinGen TOPMed gnomAD
rs142932551 CA5632393	861	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA377950485 rs1287421911	861	R>W		No	ClinGen TOPMed gnomAD
CA5632390 rs766872182	863	M>I		No	ClinGen ExAC TOPMed gnomAD
rs751894613 CA5632391	863	M>T		No	ClinGen ExAC gnomAD
rs755315531 CA5632392	863	M>V		No	ClinGen ExAC gnomAD
CA5632389 rs376765637	865	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs138391730 CA5632388	865	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA5632387 rs763582532	866	Q>H		No	ClinGen ExAC gnomAD
rs574081275 CA212664182	867	R>Q		No	ClinGen 1000Genomes TOPMed gnomAD
CA5632386 rs541440772	867	R>W		No	ClinGen 1000Genomes ExAC gnomAD
CA212664169 rs980283203	868	F>C		No	ClinGen Ensembl
TCGA novel	872	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1364789438 CA377950399	874	P>L		No	ClinGen gnomAD
rs1198720687 CA377950397	875	A>P		No	ClinGen TOPMed gnomAD
CA5632384 rs140582583	879	G>S		No	ClinGen ESP ExAC
rs1463078943 CA377950365	880	F>I		No	ClinGen TOPMed gnomAD
CA5632383 rs759325904	881	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA377950337 rs1254894996	884	P>S		No	ClinGen TOPMed gnomAD
rs1194353957 CA377950324	886	D>H		No	ClinGen gnomAD
TCGA novel	886	D>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377950281 rs1340785215	890	N>S		No	ClinGen gnomAD
rs1302014140 CA377950269	892	L>M		No	ClinGen gnomAD
CA5632362 rs551967219	893	K>N		No	ClinGen 1000Genomes ExAC gnomAD
CA5632361 rs766070007	894	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1326669860 CA377950239	896	S>F		No	ClinGen gnomAD
CA377950234 rs1333161319	897	H>R		No	ClinGen gnomAD
rs1272047318 CA377950220	899	L>H		No	ClinGen TOPMed
CA377950213 rs1442745434	900	N>I		No	ClinGen TOPMed
rs965288506 CA212663791	901	R>K		No	ClinGen TOPMed gnomAD
CA377950195 rs1183059604	903	P>L		No	ClinGen TOPMed
rs1417413033 CA377950197	903	P>S		No	ClinGen gnomAD
TCGA novel	906	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377950158 rs1368115783	909	P>L		No	ClinGen gnomAD
CA5632355 rs776544984	909	P>T		No	ClinGen ExAC
rs1484555257 CA377950155	910	E>K		No	ClinGen gnomAD
rs759430785 CA212663778	911	L>P		No	ClinGen gnomAD
rs759430785 CA377950145 COSM354821	911	L>Q	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA377950141 rs1211458471	912	P>S		No	ClinGen gnomAD
rs768830912 CA5632354	913	T>A		No	ClinGen ExAC gnomAD
rs747185687 CA5632353	913	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1323980583 CA377950118	914	L>F		No	ClinGen gnomAD
rs776688898 CA5632335	916	S>A		No	ClinGen ExAC TOPMed gnomAD
CA5632334 rs768616424	916	S>C		No	ClinGen ExAC TOPMed gnomAD
CA377950107 rs776688898	916	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1405577757 CA377950076	921	A>D		No	ClinGen gnomAD
rs1257562087 CA377950064	923	S>C		No	ClinGen gnomAD
CA212663536 rs929357376	924	C>S		No	ClinGen TOPMed
rs775515704 CA5632332	925	P>A		No	ClinGen ExAC TOPMed gnomAD
rs746191643 CA377950038	927	C>F		No	ClinGen ExAC gnomAD
CA5632330 rs746191643	927	C>Y		No	ClinGen ExAC gnomAD
CA212663491 rs934932276	928	V>E		No	ClinGen Ensembl
rs779217241 CA377950034	928	V>L		No	ClinGen ExAC TOPMed gnomAD
rs779217241 CA5632328	928	V>M		No	ClinGen ExAC TOPMed gnomAD
CA377950031 rs1269913183	929	V>L		No	ClinGen TOPMed
CA377950029 rs1269913183	929	V>M		No	ClinGen TOPMed
CA377950010 rs1224763900	931	L>F		No	ClinGen gnomAD
rs1443186823 CA377949967	935	S>N		No	ClinGen gnomAD
CA5632325 rs778408450	939	P>L		No	ClinGen ExAC gnomAD
rs1320108512 CA377949898	941	L>P		No	ClinGen gnomAD
rs754376930 CA5632324	942	L>P		No	ClinGen ExAC gnomAD
CA377949893 rs1428913949	942	L>V		No	ClinGen gnomAD
rs779814888 CA5632322 CA377949820	948	M>I		No	ClinGen ExAC gnomAD
CA377949828 rs1427676495	948	M>K		No	ClinGen TOPMed
rs1171733618 CA377949799	950	L>R		No	ClinGen gnomAD
rs758097477 CA377949787	951	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA5632320 rs373956457	952	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA377949756 rs764883304	954	T>I		No	ClinGen TOPMed gnomAD
CA212663449 rs764883304	954	T>S		No	ClinGen TOPMed gnomAD
rs1216937156 CA377949743	956	V>I		No	ClinGen gnomAD
CA377949727 rs1485586046	957	T>N		No	ClinGen gnomAD
CA377949717 rs964901786	958	K>R		No	ClinGen TOPMed gnomAD
CA212663444 rs964901786	958	K>T		No	ClinGen TOPMed gnomAD
CA5632317 rs574117856	962	L>I		No	ClinGen 1000Genomes ExAC gnomAD
CA5632318 rs574117856	962	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1388178982 CA377949668	963	S>G		No	ClinGen TOPMed
rs1297003508 CA377949634	966	P>L		No	ClinGen gnomAD
rs1300864357 CA377949638	966	P>T		No	ClinGen TOPMed
rs1212957738 CA377949625	967	S>A		No	ClinGen gnomAD
rs764104569 CA5632316	968	M>T		No	ClinGen ExAC gnomAD
CA377949579 rs748647293	969	A>P		No	ClinGen ExAC TOPMed gnomAD
CA5632304 rs748647293	969	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5632303 rs779692223	970	V>F		No	ClinGen ExAC TOPMed gnomAD
CA377949560 rs1358291193	971	R>Q		No	ClinGen TOPMed gnomAD
rs1297603698 CA377949561	971	R>W		No	ClinGen TOPMed gnomAD
CA5632301 rs372808832	973	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1424807502 CA377949536	973	A>V		No	ClinGen TOPMed gnomAD
CA5632299 rs756945973	974	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5632298 rs753687925	975	L>M		No	ClinGen ExAC gnomAD
rs1250397659 CA377949502	977	C>R		No	ClinGen gnomAD
CA377949482 rs1251997407	978	M>I		No	ClinGen gnomAD
CA5632295 rs752680362	978	M>L		No	ClinGen ExAC gnomAD
CA5632294 rs369177262	978	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1004532250 CA212663364	979	H>D		No	ClinGen Ensembl
CA5632293 rs375715470	979	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs758744282 CA5632292	981	L>F		No	ClinGen ExAC TOPMed gnomAD
rs758744282 CA212663361	981	L>V		No	ClinGen ExAC TOPMed gnomAD
CA5632290 rs765851088	983	R>C		No	ClinGen ExAC TOPMed gnomAD
rs29001332 CA5632289 VAR_023458	983	R>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs200490757 CA5632288	985	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200490757 CA377949430	985	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA377949406 rs1374820321	987	P>L		No	ClinGen gnomAD
CA377949411 rs1389624805	987	P>S		No	ClinGen gnomAD
rs375234767 CA212663329	988	V>L		No	ClinGen ESP ExAC gnomAD
CA5632287 rs375234767	988	V>M		No	ClinGen ESP ExAC gnomAD
rs752623124 CA5632272	991	P>L		No	ClinGen ExAC TOPMed gnomAD
rs767443569 CA377949363	992	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs767443569 CA5632271	992	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA5632270 rs199667431	994	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1157208472 CA377949342	995	Q>P		No	ClinGen gnomAD
rs1157208472 CA377949343	995	Q>R		No	ClinGen gnomAD
rs779330278 CA212663151	996	V>A		No	ClinGen TOPMed gnomAD
rs1399237261 CA377949338	996	V>M		No	ClinGen TOPMed gnomAD
rs1364877398 CA377949327	997	I>M		No	ClinGen gnomAD
rs1315771142 CA377949329	997	I>T		No	ClinGen TOPMed
CA212663150 rs374055380	998	R>G		No	ClinGen ESP gnomAD
rs751672463 CA5632269	998	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs374055380 CA377949326	998	R>W		No	ClinGen ESP gnomAD
CA5632268 rs766411386	999	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1304515908 CA377949304	1002	K>E		No	ClinGen TOPMed gnomAD
rs1194455662 CA377949294	1003	P>L		No	ClinGen gnomAD
rs1405179675 CA377949295	1003	P>S		No	ClinGen TOPMed gnomAD
rs1405179675 CA377949296	1003	P>T		No	ClinGen TOPMed gnomAD
CA5632265 rs765631618	1005	D>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1005	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1486762361 CA377949270	1007	K>E		No	ClinGen gnomAD
CA5632264 rs762273892	1012	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM922026 CA5632263 rs777222322	1012	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs769310133 CA5632262	1016	V>A		No	ClinGen ExAC gnomAD
rs1034920042 CA212663113	1016	V>M		No	ClinGen Ensembl
CA377949202 rs1156700569	1017	S>L		No	ClinGen TOPMed
CA5632260 rs773966186	1018	A>P		No	ClinGen ExAC gnomAD
rs1325478552 CA377949197	1018	A>V		No	ClinGen gnomAD
rs1315870020 CA377949195	1019	R>G		No	ClinGen gnomAD
CA377949189 rs1389337192	1020	G>R		No	ClinGen gnomAD
rs866861602 CA212663094	1021	E>*		No	ClinGen Ensembl
rs1384247002 CA377949171	1022	W>L		No	ClinGen gnomAD
CA212662987 rs914100661	1027	S>N		No	ClinGen TOPMed gnomAD
rs775918512 CA5632243	1027	S>R		No	ClinGen ExAC gnomAD
rs1409417745 CA377949121	1028	P>A		No	ClinGen TOPMed gnomAD
rs1409417745 CA377949123	1028	P>S		No	ClinGen TOPMed gnomAD
rs36023427 CA5632241	1029	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA377949117 rs1221210532	1029	G>S		No	ClinGen TOPMed
rs772860069 CA5632240	1030	S>G		No	ClinGen ExAC gnomAD
CA377949104 rs1261497434	1031	S>R		No	ClinGen gnomAD

No associated diseases with Q96T76

3 regional properties for Q96T76

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	13 - 304	IPR000719
conserved_site	Mitogen-activated protein (MAP) kinase, conserved site	48 - 151	IPR003527
binding_site	Protein kinase, ATP binding site	19 - 43	IPR017441

Functions

		Description
EC Number
Subcellular Localization	Nucleus Cytoplasm, cytoskeleton, spindle Cytoplasm, cytoskeleton, microtubule organizing center, centrosome	In mitosis, enriched on centrosomes during prophase, localizes to the spindle during metaphase and surrounds compacted spindle midzone microtubules during telophase
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

10 GO annotations of cellular component

Name	Definition
CIA complex	The cytosolic iron-sulfur protein assembly (CIA) complex mediates the incorporation of iron-sulfur clusters into apoproteins involved in DNA metabolism and genomic integrity.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
microtubule organizing center	An intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides.
MMXD complex	A protein complex that contains the proteins MMS19, MIP18 and XPD, localizes to mitotic spindle during mitosis, and is required for proper chromosome segregation.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
spindle	The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart.
transcription factor TFIIH holo complex	A complex that is capable of kinase activity directed towards the C-terminal Domain (CTD) of the largest subunit of RNA polymerase II and is essential for initiation at RNA polymerase II promoters in vitro. It is composed of the core TFIIH complex and the TFIIK complex.

5 GO annotations of molecular function

Name	Definition
enzyme binding	Binding to an enzyme, a protein with catalytic activity.
nuclear estrogen receptor binding	Binding to a nuclear estrogen receptor.
protein-macromolecule adaptor activity	The binding activity of a protein that brings together two or more macromolecules in contact, permitting those molecules to function in a coordinated way. The adaptor can bring together two proteins, or a protein and another macromolecule such as a lipid or a nucleic acid.
signaling receptor complex adaptor activity	The binding activity of a molecule that provides a physical support for the assembly of a multiprotein receptor signaling complex.
transcription coactivator activity	A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator.

12 GO annotations of biological process

Name	Definition
cellular response to DNA damage 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 stimulus indicating damage to its DNA from environmental insults or errors during metabolism.
chromosome segregation	The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets. In eukaryotes, chromosome segregation begins with the condensation of chromosomes, includes chromosome separation, and ends when chromosomes have completed movement to the spindle poles.
DNA metabolic process	Any cellular metabolic process involving deoxyribonucleic acid. This is one of the two main types of nucleic acid, consisting of a long, unbranched macromolecule formed from one, or more commonly, two, strands of linked deoxyribonucleotides.
DNA repair	The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway.
DNA-templated transcription	The synthesis of an RNA transcript from a DNA template.
iron-sulfur cluster assembly	The incorporation of iron and exogenous sulfur into a metallo-sulfur cluster.
nucleotide-excision repair	A DNA repair process in which a small region of the strand surrounding the damage is removed from the DNA helix as an oligonucleotide. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. Nucleotide excision repair recognizes a wide range of substrates, including damage caused by UV irradiation (pyrimidine dimers and 6-4 photoproducts) and chemicals (intrastrand cross-links and bulky adducts).
phosphorelay signal transduction system	A conserved series of molecular signals found in prokaryotes and eukaryotes; involves autophosphorylation of a histidine kinase and the transfer of the phosphate group to an aspartate that then acts as a phospho-donor to response regulator proteins.
positive regulation of DNA-templated transcription	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of double-strand break repair via homologous recombination	Any process that activates or increases the frequency, rate or extent of double-strand break repair via homologous recombination.
protein maturation by iron-sulfur cluster transfer	The transfer of an assembled iron-sulfur cluster from a scaffold protein to an acceptor protein that contributes to the attainment of the full functional capacity of a protein.
response to hormone	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MAAAAAVEAA	APMGALWGLV	HDFVVGQQEG	PADQVAADVK	SGNYTVLQVV	EALGSSLENP
70	80	90	100	110	120
EPRTRARAIQ	LLSQVLLHCH	TLLLEKEVVH	LILFYENRLK	DHHLVIPSVL	QGLKALSLCV
130	140	150	160	170	180
ALPPGLAVSV	LKAIFQEVHV	QSLPQVDRHT	VYNIITNFMR	TREEELKSLG	ADFTFGFIQV
190	200	210	220	230	240
MDGEKDPRNL	LVAFRIVHDL	ISRDYSLGPF	VEELFEVTSC	YFPIDFTPPP	NDPHGIQRED
250	260	270	280	290	300
LILSLRAVLA	STPRFAEFLL	PLLIEKVDSE	VLSAKLDSLQ	TLNACCAVYG	QKELKDFLPS
310	320	330	340	350	360
LWASIRREVF	QTASERVEAE	GLAALHSLTA	CLSRSVLRAD	AEDLLDSFLS	NILQDCRHHL
370	380	390	400	410	420
CEPDMKLVWP	SAKLLQAAAG	ASARACDSVT	SNVLPLLLEQ	FHKHSQSSQR	RTILEMLLGF
430	440	450	460	470	480
LKLQQKWSYE	DKDQRPLNGF	KDQLCSLVFM	ALTDPSTQLQ	LVGIRTLTVL	GAQPDLLSYE
490	500	510	520	530	540
DLELAVGHLY	RLSFLKEDSQ	SCRVAALEAS	GTLAALYPVA	FSSHLVPKLA	EELRVGESNL
550	560	570	580	590	600
TNGDEPTQCS	RHLCCLQALS	AVSTHPSIVK	ETLPLLLQHL	WQVNRGNMVA	QSSDVIAVCQ
610	620	630	640	650	660
SLRQMAEKCQ	QDPESCWYFH	QTAIPCLLAL	AVQASMPEKE	PSVLRKVLLE	DEVLAAMVSV
670	680	690	700	710	720
IGTATTHLSP	ELAAQSVTHI	VPLFLDGNVS	FLPENSFPSR	FQPFQDGSSG	QRRLIALLMA
730	740	750	760	770	780
FVCSLPRNVE	IPQLNQLMRE	LLELSCCHSC	PFSSTAAAKC	FAGLLNKHPA	GQQLDEFLQL
790	800	810	820	830	840
AVDKVEAGLG	SGPCRSQAFT	LLLWVTKALV	LRYHPLSSCL	TARLMGLLSD	PELGPAAADG
850	860	870	880	890	900
FSLLMSDCTD	VLTRAGHAEV	RIMFRQRFFT	DNVPALVQGF	HAAPQDVKPN	YLKGLSHVLN
910	920	930	940	950	960
RLPKPVLLPE	LPTLLSLLLE	ALSCPDCVVQ	LSTLSCLQPL	LLEAPQVMSL	HVDTLVTKFL
970	980	990	1000	1010	1020
NLSSSPSMAV	RIAALQCMHA	LTRLPTPVLL	PYKPQVIRAL	AKPLDDKKRL	VRKEAVSARG

EWFLLGSPGS