AiPD: Autoinhibited Protein Database

Q9NYL2

Gene name	MAP3K20
Protein name	Mitogen-activated protein kinase kinase kinase 20
Names	Human cervical cancer suppressor gene 4 protein, HCCS-4, Leucine zipper- and sterile alpha motif-containing kinase, MLK-like mitogen-activated protein triple kinase, Mitogen-activated protein kinase kinase kinase MLT, Mixed lineage kinase-related kinase, MLK-related kinase, MRK, Sterile alpha motif- and leucine zipper-containing kinase AZK
Species	Homo sapiens (Human)
KEGG Pathway	hsa:51776
EC number	2.7.11.25: Protein-serine/threonine kinases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

538-800 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

538-800 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

150-171 (Activation loop from InterPro)

Target domain	16-277 (Protein kinase domain)
Relief mechanism
Assay

References

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

Autoinhibited structure

Activated structure

7 structures for Q9NYL2

Entry ID	Method	Resolution	Chain	Position	Source
5HES	X-ray	214 A	A/B	5-309	PDB
5X5O	X-ray	187 A	A	5-309	PDB
6JUT	X-ray	210 A	A	5-309	PDB
6JUU	X-ray	190 A	A	5-309	PDB
7YAW	X-ray	210 A	A/B/C/D	5-309	PDB
7YAZ	X-ray	254 A	A	5-309	PDB
AF-Q9NYL2-F1	Predicted				AlphaFoldDB

580 variants for Q9NYL2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1553576774 RCV000515297	95	N>*	Myopathy, centronuclear, 6, with fiber-type disproportion [ClinVar]	Yes	ClinVar dbSNP
VAR_080563	95	N>del	CNM6; decrease of protein abundance [UniProt]	Yes	UniProt
RCV000515349 rs1293675104	164	M>missing	Myopathy, centronuclear, 6, with fiber-type disproportion [ClinVar]	Yes	ClinVar dbSNP
rs1553578407 RCV002527438 RCV000515157 CA349313237	172	W>*	Myopathy, centronuclear, 6, with fiber-type disproportion [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_080564	172	W>del	CNM6; decrease of protein abundance [UniProt]	Yes	UniProt
rs763481300 VAR_082158 CA1970520 RCV000762290	250	R>W	CNM6; unknown pathological significance [UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV001332155 rs1683820514	273	C>R	Split-foot malformation-mesoaxial polydactyly syndrome [ClinVar]	Yes	ClinVar dbSNP
VAR_076448 RCV000210484 RCV000202370 CA279890 rs863225437	368	F>C	Split-foot malformation-mesoaxial polydactyly syndrome Split hand-foot malformation 1 SFMMP; produces protein aggregation [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_087102	505	A>S	SFMMP; mild destabilization of the protein [UniProt]	Yes	UniProt
rs565333842 COSM1482191 COSM1482192 CA1970289	2	S>L	Variant assessed as Somatic; 4.653e-05 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA1970292 rs750465627	5	G>D		No	ClinGen ExAC gnomAD
CA349312043 rs1422349758	8	F>S		No	ClinGen gnomAD
CA1970293 rs148183363	9	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA349312056 rs1229155855	10	Q>R		No	ClinGen TOPMed
TCGA novel	14	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs996264196 CA60736055	15	D>V		No	ClinGen Ensembl
rs1311416846 CA349312146	22	C>R		No	ClinGen TOPMed
CA1970296 rs201411802	24	G>A		No	ClinGen ExAC TOPMed gnomAD
CA1970297 rs201411802	24	G>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	25	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781529095 CA1970298	27	F>C		No	ClinGen ExAC gnomAD
rs747816244 CA1970299	30	V>I		No	ClinGen ExAC gnomAD
rs374943647 CA1970301	32	R>L		No	ClinGen ESP ExAC gnomAD
rs374943647 CA60736113	32	R>P		No	ClinGen ESP ExAC gnomAD
CA1970300 rs374943647	32	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA349312223 rs1393987148	34	K>R		No	ClinGen gnomAD
CA1970302 rs748873061	38	Q>E		No	ClinGen ExAC gnomAD
rs770327306 CA1970303	39	D>G		No	ClinGen ExAC gnomAD
rs1335939372 CA349312256	39	D>N		No	ClinGen gnomAD
rs1341498677 CA349312264	40	K>E		No	ClinGen gnomAD
rs745797181 CA1970305	44	V>A		No	ClinGen ExAC gnomAD
rs771998383 CA1970306	47	L>V		No	ClinGen ExAC gnomAD
CA349312323 rs1445697081	49	K>Q		No	ClinGen TOPMed
rs761961041 CA1970308	50	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1462711907 CA349312343	51	E>D		No	ClinGen TOPMed
CA349312341 rs1309193902	51	E>G		No	ClinGen gnomAD
rs1199879409 CA349312337	51	E>Q		No	ClinGen gnomAD
rs1251556221 CA349312349	52	K>R		No	ClinGen gnomAD
CA349312353 rs1205200077	53	E>K		No	ClinGen gnomAD
CA60744080 rs944157561	54	A>E		No	ClinGen Ensembl
CA349312488 rs968086244	69	Y>*		No	ClinGen gnomAD
rs775456781 CA1970325	69	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA1970326 rs775456781	69	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs775456781 CA60744105	69	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs906311477 CA60744129	71	V>I		No	ClinGen TOPMed
rs1358936998 CA349312508	73	L>V		No	ClinGen TOPMed
CA1970327 rs768310112	77	N>S		No	ClinGen ExAC gnomAD
CA1970329 rs763079386	82	T>I		No	ClinGen ExAC gnomAD
CA349312625 rs1390353758	89	S>P		No	ClinGen TOPMed
CA349312640 rs1440132325	91	Y>C		No	ClinGen TOPMed
CA349312650 rs1258199383	92	D>E		No	ClinGen TOPMed
rs188114756 CA1970343	94	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1348499989 CA349312670	95	N>S		No	ClinGen gnomAD
rs1457894612 CA349312676	96	S>G		No	ClinGen gnomAD
rs768558800 CA1970345	97	N>S		No	ClinGen ExAC gnomAD
CA1970344 rs746903757	97	N>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs780780645 CA1970346	101	E>K		No	ClinGen ExAC gnomAD
CA60750864 CA60750862 rs531282801	102	M>I		No	ClinGen 1000Genomes
CA1970347 rs749535072	103	D>G		No	ClinGen ExAC gnomAD
CA1970348 rs771103861	104	M>K		No	ClinGen ExAC gnomAD
CA1970349 rs774529090	106	H>P		No	ClinGen ExAC
rs759664582 CA1970350	107	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs772127467 CA1970351	109	T>I		No	ClinGen ExAC gnomAD
rs761022682 CA1970353	110	W>*		No	ClinGen ExAC TOPMed gnomAD
rs543431912 CA1970352	110	W>G		No	ClinGen ExAC gnomAD
CA349312806 rs1466162221	114	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	114	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1970366 rs779168226	118	M>T		No	ClinGen ExAC gnomAD
CA349312841 rs1311960446	118	M>V		No	ClinGen gnomAD
rs1482299435 CA349312853	119	H>R		No	ClinGen TOPMed
CA60752765 rs1005520267	122	H>N		No	ClinGen Ensembl
rs1235414325 CA349312874	122	H>P		No	ClinGen gnomAD
CA1970367 rs746087074	123	M>T		No	ClinGen ExAC gnomAD
rs1258337663 CA349312891	124	E>G		No	ClinGen TOPMed
CA349312907 rs1178179600	127	V>I		No	ClinGen gnomAD
rs775376620 CA1970369	129	V>L		No	ClinGen ExAC gnomAD
rs761269256 CA1970370	131	H>Y		No	ClinGen ExAC gnomAD
CA349312975 rs1220780464	137	R>G		No	ClinGen TOPMed
rs1332219098 CA349312978	137	R>T		No	ClinGen gnomAD
CA349312990 rs1278441322	139	V>I		No	ClinGen TOPMed
rs1339574484 CA349313009	140	V>F		No	ClinGen gnomAD
rs373719708 CA349313014	141	I>L		No	ClinGen ESP TOPMed gnomAD
CA60754120 rs373719708	141	I>V		No	ClinGen ESP TOPMed gnomAD
CA349313031 rs1450178189	144	D>N		No	ClinGen gnomAD
rs1559270483 CA349313042	145	G>E		No	ClinGen Ensembl
TCGA novel	149	I>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1161191737 CA349313079	149	I>V		No	ClinGen gnomAD
rs1393705687 CA349313111	153	G>S		No	ClinGen gnomAD
rs372919697 CA60754205	154	A>T		No	ClinGen 1000Genomes gnomAD
TCGA novel	154	A>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1322047795 CA349313122	155	S>P		No	ClinGen gnomAD
rs201122459 CA1970419	156	R>Q		No	ClinGen ExAC gnomAD
CA1970421 rs140684968	160	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA349313189 rs1243102596	164	M>I		No	ClinGen gnomAD
rs1279268406 CA349313182	164	M>V		No	ClinGen TOPMed
TCGA novel	164	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs551953949 CA1970423	166	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1050024875 CA60754218	167	V>A		No	ClinGen TOPMed
rs1211109126 CA349313202	167	V>I		No	ClinGen gnomAD
rs1309390199 CA349313210	168	G>E		No	ClinGen TOPMed
TCGA novel	174	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1970427 rs764057020	180	S>C		No	ClinGen ExAC TOPMed gnomAD
CA1970426 rs764057020	180	S>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	180	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1440886825 CA349313340	187	C>S		No	ClinGen gnomAD
rs751730715 CA1970430	191	S>A		No	ClinGen ExAC gnomAD
rs1226165381 CA349313375	192	Y>C		No	ClinGen gnomAD
TCGA novel	193	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767889899 CA1970450	197	W>R		No	ClinGen ExAC gnomAD
rs1306535738 CA349313422	198	E>K		No	ClinGen gnomAD
CA349313435 rs1387854221	199	M>I		No	ClinGen gnomAD
CA1970451 rs752956963	199	M>L		No	ClinGen ExAC gnomAD
CA349313459 rs1471830174	203	E>A		No	ClinGen gnomAD
CA349313463 rs1312405789	203	E>D		No	ClinGen TOPMed
rs200986698 CA1970454	208	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1454141948 CA349313493	208	G>S		No	ClinGen TOPMed
CA1970455 rs757734813	212	L>I		No	ClinGen ExAC gnomAD
CA1970457 rs746285598	216	W>R		No	ClinGen ExAC
CA349313562 rs1559274033	218	V>A		No	ClinGen Ensembl
rs1460635369 CA349313558	218	V>I		No	ClinGen Ensembl
CA349313588 rs1413924416	222	N>D		No	ClinGen gnomAD
CA349313592 rs374430412	222	N>K		No	ClinGen ESP ExAC gnomAD
TCGA novel	222	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	223	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349313619 rs1461353593	224	R>S		No	ClinGen gnomAD
rs749173713 CA1970486	226	T>A		No	ClinGen ExAC gnomAD
rs774244017 CA1970488	229	S>G		No	ClinGen ExAC gnomAD
CA349313654 rs1288539970	230	S>G		No	ClinGen gnomAD
CA349313656 rs1574106029	230	S>I		No	ClinGen Ensembl
CA349313664 rs1574106034	231	C>S		No	ClinGen Ensembl
rs185497574 CA1970489	231	C>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1314567089 CA349313675	233	R>K		No	ClinGen gnomAD
CA1970491 rs776697881	234	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1232589575 CA349313686 CA349313685	234	S>R		No	ClinGen gnomAD
CA1970494 rs765226062	240	H>P		No	ClinGen ExAC TOPMed gnomAD
rs762009229 CA1970493	240	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs750933455 CA349313734	241	Q>H		No	ClinGen ExAC gnomAD
rs773223317 CA1970519	249	K>Q		No	ClinGen ExAC gnomAD
CA349313818 rs1376835331	251	P>R		No	ClinGen TOPMed
TCGA novel	253	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1970522 rs376675527	253	F>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1469733523 CA349313833	254	K>Q		No	ClinGen TOPMed
CA1970523 rs760001967	255	Q>E		No	ClinGen ExAC gnomAD
rs1559280148 CA349313864	258	S>A		No	ClinGen Ensembl
CA1970524 rs767708772	258	S>L		No	ClinGen ExAC gnomAD
rs1278507503 CA349313869	259	I>F		No	ClinGen gnomAD
CA349313868 rs1278507503	259	I>V		No	ClinGen gnomAD
rs1367714105 CA349313887	262	S>T		No	ClinGen gnomAD
CA60739531 rs767949692	262	S>Y		No	ClinGen gnomAD
rs752408367 CA1970525	263	M>T		No	ClinGen ExAC TOPMed gnomAD
CA60739541 rs529181958	263	M>V		No	ClinGen 1000Genomes
rs921739096 CA60739559	265	N>K		No	ClinGen TOPMed
rs1346672156 CA349313909	265	N>S		No	ClinGen gnomAD
rs1206359758 CA349313912	266	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1970527 RCV000956003 VAR_040806 rs6758025	267	T>M		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs6758025 CA1970528	267	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA349313925 rs1330620390	268	S>G		No	ClinGen gnomAD
CA1970530 rs141050328	268	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1236994248 CA349313931	269	L>I		No	ClinGen TOPMed
rs140217511 CA1970531	270	P>L		No	ClinGen ESP ExAC gnomAD
CA349313939 rs1372294713	270	P>S		No	ClinGen TOPMed
CA349313953 rs1479065450	272	K>T		No	ClinGen gnomAD
rs1297522881 CA349313961	273	C>Y		No	ClinGen TOPMed
CA1970533 rs779652284	276	F>L		No	ClinGen ExAC gnomAD
rs1574113915 CA349313983	276	F>S		No	ClinGen Ensembl
rs532996788 CA1970534	277	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs137925091 CA1970536	278	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs763069451 CA1970537	279	N>D		No	ClinGen ExAC
VAR_040807	281	A>T	an ovarian endometrioid sample; somatic mutation [UniProt]	No	UniProt
rs34683477 CA1970538 VAR_040808	281	A>V		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
CA1970578 rs757432139	288	E>K		No	ClinGen ExAC TOPMed gnomAD
rs948572970 CA60746570	289	A>G		No	ClinGen TOPMed
rs1201257675 CA349314097	291	L>V		No	ClinGen gnomAD
CA349314105 rs1486546658	292	E>G		No	ClinGen TOPMed gnomAD
rs772182075 CA1970582	292	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA349314106 rs1486546658 COSM1009673 COSM1009674	292	E>V	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA1970583 rs147468782	293	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	295	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA60746602 rs1052784774	295	K>Q		No	ClinGen Ensembl
rs747485369 CA1970584	295	K>R		No	ClinGen ExAC gnomAD
rs541711802 CA60746606	297	L>R		No	ClinGen TOPMed
rs769152898 CA349314147	299	R>C		No	ClinGen ExAC gnomAD
rs769152898 CA1970585	299	R>G		No	ClinGen ExAC gnomAD
CA349314148 rs1183440727	299	R>H		No	ClinGen TOPMed gnomAD
rs1010237929 CA60746620	302	S>T		No	ClinGen Ensembl
CA349314235 TCGA novel rs1574124733	311	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
rs772898801 CA349314237	311	R>L		No	ClinGen ExAC TOPMed gnomAD
rs772898801 CA1970589	311	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs762427042 CA1970590	312	E>D		No	ClinGen ExAC gnomAD
COSM1009679 rs1412201270 CA349314255 COSM1009680	314	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	314	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	321	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759423037 CA1970593	323	T>S		No	ClinGen ExAC gnomAD
rs767333028 CA349314328	324	E>A		No	ClinGen ExAC TOPMed gnomAD
CA1970594 rs767333028	324	E>V		No	ClinGen ExAC TOPMed gnomAD
rs752529457 CA1970595	327	N>K		No	ClinGen ExAC gnomAD
rs1345964642 CA349314351	327	N>S		No	ClinGen TOPMed gnomAD
CA1970596 rs755881907	328	T>I		No	ClinGen ExAC TOPMed gnomAD
CA349314357 rs755881907	328	T>N		No	ClinGen ExAC TOPMed gnomAD
CA349314363 rs1483374952	329	P>L		No	ClinGen gnomAD
CA1970696 rs779736284	335	E>D		No	ClinGen ExAC TOPMed gnomAD
CA60754507 rs1036561844	335	E>K		No	ClinGen TOPMed gnomAD
CA349315288 rs751163889	336	I>F		No	ClinGen ExAC TOPMed gnomAD
CA1970697 rs751163889	336	I>L		No	ClinGen ExAC TOPMed gnomAD
CA349315293 rs1282345920	337	G>S		No	ClinGen gnomAD
CA60754512 rs755949700	338	A>T		No	ClinGen Ensembl
CA349315310 rs1192632812	339	W>*		No	ClinGen gnomAD
rs754521036 CA1970698	339	W>R		No	ClinGen ExAC gnomAD
CA349315314 rs1242378321	340	T>A		No	ClinGen TOPMed
rs200340464 CA1970700	340	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA1970699 rs200340464	340	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA60754548 rs905244862	341	E>G		No	ClinGen Ensembl
CA1970704 rs573728560	343	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA349315334 rs573728560	343	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1270993670 CA349315344	344	V>A		No	ClinGen TOPMed
rs563182086 CA1970720	346	C>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA349315377 rs1377653527	347	W>*		No	ClinGen gnomAD
rs1302795021 CA349315393	349	Q>R		No	ClinGen gnomAD
rs755674436 CA1970721	352	V>I		No	ClinGen ExAC gnomAD
rs141093419 CA1970737	355	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA349315431 rs1326922745	355	G>S		No	ClinGen gnomAD
rs1487391776 CA349315456	356	D>E		No	ClinGen TOPMed
rs759912465 CA1970738	357	S>P		No	ClinGen ExAC gnomAD
rs1254769017 CA349315475	360	E>Q		No	ClinGen TOPMed
CA1970740 rs372041805	361	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA1970739 rs764005575	361	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1254551941 CA349315491	362	S>C		No	ClinGen gnomAD
rs917066711 CA60756595	362	S>N		No	ClinGen Ensembl
rs376505845 CA1970741	363	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs753851426 CA1970743	364	Y>H		No	ClinGen ExAC gnomAD
CA349315512 rs1317124396	365	A>V		No	ClinGen TOPMed
rs963480520 CA60756614	367	L>M		No	ClinGen TOPMed gnomAD
CA349315579 rs1462071023	374	T>I		No	ClinGen gnomAD
rs757134784 CA1970745	377	R>Q		No	ClinGen TOPMed gnomAD
rs1204978379 CA349315616	381	L>P		No	ClinGen gnomAD
CA349315622 rs1574141305	382	E>G		No	ClinGen Ensembl
CA349315640 rs1383652899	384	E>D		No	ClinGen gnomAD
TCGA novel	384	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1276258158 CA349315694	392	V>F		No	ClinGen gnomAD
rs201739610 CA60756670	396	H>R		No	ClinGen Ensembl
CA1970749 rs745702430	397	I>N		No	ClinGen ExAC TOPMed gnomAD
CA1970750 rs758194903	400	F>C		No	ClinGen ExAC gnomAD
rs1449108537 CA349315799	405	E>G		No	ClinGen TOPMed
CA1970770 rs765142279	406	K>I		No	ClinGen ExAC gnomAD
rs756773161 CA1970769	406	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA1970772 rs758130751	409	H>R		No	ClinGen ExAC gnomAD
rs750367021 CA1970771	409	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA1970774 rs748389410	410	D>E		No	ClinGen ExAC TOPMed gnomAD
CA1970773 rs779763254	410	D>N		No	ClinGen ExAC TOPMed gnomAD
rs759941594 CA60766121	412	I>L		No	ClinGen ExAC gnomAD
rs759941594 CA1970775	412	I>V		No	ClinGen ExAC gnomAD
CA349315875 rs1326885001	416	H>Q		No	ClinGen TOPMed gnomAD
rs1177817072 CA349315892	419	P>A		No	ClinGen gnomAD
CA1970778 rs749417877	422	K>N		No	ClinGen ExAC gnomAD
rs764780829 CA60766726	426	G>S		No	ClinGen gnomAD
TCGA novel	431	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349315991 rs1330298903	431	N>K		No	ClinGen gnomAD
rs757299498 CA1970799	434	K>Q		No	ClinGen ExAC gnomAD
CA1970800 rs779003244	435	I>L		No	ClinGen ExAC TOPMed gnomAD
rs930000102 CA60766743	436	V>G		No	ClinGen TOPMed gnomAD
rs746396713 CA1970802	437	N>K		No	ClinGen ExAC gnomAD
CA349316034 rs780688121	438	L>V		No	ClinGen ExAC TOPMed gnomAD
CA349316039 rs1354538676	439	E>Q		No	ClinGen TOPMed
rs1056014111 CA60766764	441	V>A		No	ClinGen TOPMed gnomAD
TCGA novel	445	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201693932 CA1970806 RCV000910183	449	G>E		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs151170635 COSM109885 CA60766779	450	T>A	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA349316116 rs1407993194	450	T>I		No	ClinGen TOPMed
rs1574147721 CA349316120	451	G>D		No	ClinGen Ensembl
rs1315742725 CA349316125	452	P>S		No	ClinGen gnomAD
CA349316131 rs1469983269	453	Q>*		No	ClinGen gnomAD
rs1294380444 CA349316161	455	C>Y		No	ClinGen gnomAD
CA1970838 rs770361767	457	W>*		No	ClinGen ExAC gnomAD
rs1283861320 CA349316182	458	K>Q		No	ClinGen TOPMed gnomAD
rs1351639148 CA349316186	458	K>R		No	ClinGen gnomAD
CA1970839 rs774285984	460	Y>H		No	ClinGen ExAC gnomAD
CA1970841 rs767333154	461	M>T		No	ClinGen ExAC TOPMed gnomAD
CA349316207 rs1487154734	461	M>V		No	ClinGen gnomAD
rs574631038 CA60778883	462	E>D		No	ClinGen TOPMed gnomAD
CA1970843 CA1970844 rs760368933	463	M>I		No	ClinGen ExAC TOPMed gnomAD
rs201029003 CA349316225	463	M>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA1970842 rs201029003	463	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs371625541 CA60778919	464	D>Y		No	ClinGen ESP
TCGA novel	465	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1970845 rs750610480	465	G>R		No	ClinGen ExAC TOPMed gnomAD
rs375168831 CA60778933	467	E>K		No	ClinGen Ensembl
rs758552151 CA1970846	468	I>T		No	ClinGen ExAC TOPMed gnomAD
CA349316255 rs1470307475	468	I>V		No	ClinGen TOPMed gnomAD
rs1558915116 CA349316283	472	Y>F		No	ClinGen Ensembl
rs752131354 CA1970848	472	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA349316288 rs1314055764	473	I>L		No	ClinGen gnomAD
rs1394410256 CA349316301	475	D>N		No	ClinGen gnomAD
CA349316309 rs1312223673	476	V>M		No	ClinGen gnomAD
CA60778951 rs201909576	477	T>K		No	ClinGen Ensembl
rs906183367 CA60778973	480	T>I		No	ClinGen TOPMed gnomAD
CA1970850 rs547225265	481	N>K		No	ClinGen 1000Genomes ExAC gnomAD
CA60778978 rs866013361	482	L>I		No	ClinGen Ensembl
rs1307293439 CA349316353	483	P>A		No	ClinGen gnomAD
CA349316362 rs1351277149	484	D>G		No	ClinGen gnomAD
rs748593233 CA349316369	485	A>E		No	ClinGen ExAC TOPMed gnomAD
rs748593233 CA1970851	485	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	486	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA60778984 rs1040733842	486	E>G		No	ClinGen TOPMed gnomAD
rs1040733842 CA349316375	486	E>V		No	ClinGen TOPMed gnomAD
CA349316414 rs1254880209	491	T>I		No	ClinGen gnomAD
CA1970877 rs745444600	493	P>L		No	ClinGen ExAC gnomAD
rs1384823806 CA349316441	494	P>R		No	ClinGen gnomAD
CA349316444 rs1341026793	495	F>L		No	ClinGen gnomAD
rs1210729581 CA349316453	496	V>I		No	ClinGen TOPMed gnomAD
rs1210729581 CA349316452	496	V>L		No	ClinGen TOPMed gnomAD
CA1970878 rs531586273	497	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA60780721 rs921340976	500	W>*		No	ClinGen Ensembl
rs780050080 CA1970879	501	I>T		No	ClinGen ExAC gnomAD
rs1316671660 CA349316497	502	V>I		No	ClinGen gnomAD
rs746860571 CA1970880	503	G>E		No	ClinGen ExAC gnomAD
rs768515720 CA1970881	504	I>T		No	ClinGen ExAC TOPMed gnomAD
rs776525137 CA1970882	507	S>I		No	ClinGen ExAC gnomAD
CA60780734 rs947474374	508	Q>P		No	ClinGen TOPMed gnomAD
rs761667073 CA1970883	510	V>M		No	ClinGen ExAC gnomAD
rs771325985 CA1970884	512	C>Y		No	ClinGen ExAC gnomAD
rs955598509 CA60780760	514	V>I		No	ClinGen TOPMed gnomAD
rs955598509 CA349316572	514	V>L		No	ClinGen TOPMed gnomAD
CA1970906 rs781250602	520	V>G		No	ClinGen ExAC gnomAD
rs1313282633 CA349316632	521	R>G		No	ClinGen TOPMed gnomAD
rs904497049 CA60782422	523	P>L		No	ClinGen Ensembl
rs1235806885 CA349316659	525	S>G		No	ClinGen gnomAD
CA349316664 rs1482932354	525	S>R		No	ClinGen gnomAD
TCGA novel	526	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1970908 rs769706966	526	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1240216065 CA349316683	528	H>R		No	ClinGen gnomAD
CA1970910 rs3769148	531	S>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs3769148 CA1970909 VAR_022827	531	S>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs760788181 CA1970913	534	W>R		No	ClinGen ExAC TOPMed gnomAD
CA349316723 rs1273551046	534	W>S		No	ClinGen TOPMed
CA349316732 rs1207953244	535	S>T		No	ClinGen TOPMed
CA1970914 rs368727251	536	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA349316754 rs1331670221	538	K>N		No	ClinGen gnomAD
rs754341420 CA1970915	538	K>Q		No	ClinGen ExAC gnomAD
rs762173112 CA1970916	539	P>H		No	ClinGen ExAC gnomAD
rs765532580 CA349316766	540	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1368666756 CA349316781	542	E>D		No	ClinGen gnomAD
CA1970918 rs199861477	542	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	543	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766021132 CA1970920	547	Q>*		No	ClinGen ExAC gnomAD
rs188158548 CA1970921	547	Q>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754495299 CA1970922	548	L>F		No	ClinGen ExAC gnomAD
CA349316827 rs1456609324	550	I>V		No	ClinGen gnomAD
rs897576489 CA60782570	551	Q>R		No	ClinGen Ensembl
TCGA novel	553	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1192883666 CA349316880	557	S>L		No	ClinGen gnomAD
rs16861466 CA349316885	558	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1970928 rs748030562	558	D>G		No	ClinGen ExAC
rs748030562 CA1970927	558	D>V		No	ClinGen ExAC
rs777671943 CA1970930	559	G>S		No	ClinGen ExAC gnomAD
CA349316904 rs1463738485	561	P>R		No	ClinGen gnomAD
rs1402104659 CA349316900	561	P>T		No	ClinGen gnomAD
TCGA novel	562	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753972418 CA60782633	562	G>R		No	ClinGen gnomAD
rs537234498 CA1970933	566	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs537234498 CA1970934	566	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1970935 rs768658670	568	S>G		No	ClinGen ExAC gnomAD
CA349316974 rs1484579996	570	D>G		No	ClinGen TOPMed
CA349316970 rs1204518307	570	D>N		No	ClinGen TOPMed
rs553171291 CA1970949	571	C>R		No	ClinGen ExAC gnomAD
rs374432637 CA1970950	571	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1229884698 CA349317012	575	D>G		No	ClinGen gnomAD
CA1970951 rs780141580	576	T>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	577	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349317026 rs1217275805	578	R>G		No	ClinGen gnomAD
CA1970954 rs776656628	580	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs7593622 CA1970952 VAR_040809	580	R>W		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA60784390 rs963733916	582	I>T		No	ClinGen TOPMed gnomAD
CA349317064 rs1385029775	583	A>V		No	ClinGen gnomAD
CA1970956 rs554695892	586	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA60784422 rs1013519233	586	T>I		No	ClinGen TOPMed gnomAD
rs1334915927 CA349317086	587	S>Y		No	ClinGen gnomAD
rs1381066246 CA349317098	589	Q>*		No	ClinGen TOPMed
CA349317106 rs1446105311	590	R>C		No	ClinGen gnomAD
COSM1009694 CA1970958 rs200257993	590	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA349317108 rs200257993	590	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1240565014 CA349317117	592	Q>*		No	ClinGen gnomAD
CA60784436 rs374891742	593	S>N		No	ClinGen ESP gnomAD
CA349317123 rs1434324172	593	S>R		No	ClinGen TOPMed
CA1970961 rs759217039	594	N>K		No	ClinGen ExAC gnomAD
rs773889240 CA1970960	594	N>S		No	ClinGen ExAC gnomAD
rs1373800661 CA349317141	595	P>L		No	ClinGen TOPMed
TCGA novel	595	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368057302 CA1970963	596	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA349317144 rs1443592473	596	I>T		No	ClinGen gnomAD
CA1970962 rs368057302	596	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1242113220 CA349317152	598	G>R		No	ClinGen gnomAD
rs1440753681 CA349317158	599	S>T		No	ClinGen gnomAD
rs372585282 CA1970964	600	P>L		No	ClinGen ESP ExAC TOPMed
rs753739085 CA1970966	602	F>L		No	ClinGen ExAC gnomAD
rs374304112 CA1970967	603	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778717093 CA1970968	604	H>R		No	ClinGen ExAC TOPMed gnomAD
CA349317207 rs1485068534	606	D>G		No	ClinGen TOPMed
rs755237928 CA1970970	606	D>Y		No	ClinGen ExAC gnomAD
CA349317219 rs1333802583	608	Q>*		No	ClinGen gnomAD
CA1970972 rs199712204	609	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs769862837 CA1970973	610	S>F	Variant assessed as Somatic; 4.642e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1970975 rs532490517	611	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA349317244 rs1256475901	612	A>T		No	ClinGen gnomAD
CA1970976 rs200821510	615	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200821510 COSM1528727 CA60784574	615	V>M	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs771908220 CA349317275	617	R>L		No	ClinGen ExAC gnomAD
rs771908220 CA1970980	617	R>Q		No	ClinGen ExAC gnomAD
CA1970978 rs750517616	617	R>W		No	ClinGen ExAC TOPMed gnomAD
rs775275092 CA1970981	618	P>S		No	ClinGen ExAC TOPMed gnomAD
CA1970983 rs763598631	620	V>M		No	ClinGen ExAC gnomAD
rs906454441 CA60784629	621	P>R		No	ClinGen Ensembl
rs753737919 CA1970984	623	K>E		No	ClinGen ExAC gnomAD
rs1200234835 CA349317317	624	Y>C		No	ClinGen gnomAD
rs1314948758 CA349317347	628	T>K		No	ClinGen TOPMed
CA1970986 rs765058614	629	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	630	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs999411721 CA60784649	631	N>K		No	ClinGen TOPMed gnomAD
rs967796644 CA60784666	633	S>P		No	ClinGen TOPMed gnomAD
rs1030857534 CA60784675	634	R>G		No	ClinGen TOPMed
CA1970989 rs368950216	635	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA1970991 rs371335082	636	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1970994 rs749790882	637	S>F		No	ClinGen ExAC gnomAD
CA349317412 rs1474565150	639	T>S		No	ClinGen TOPMed
CA60784699 rs200757391	640	Q>P		No	ClinGen gnomAD
CA1970995 rs771517495	642	G>R		No	ClinGen ExAC gnomAD
rs1254836705 CA349317436	643	L>M		No	ClinGen TOPMed
rs1480533544 CA349317442	644	T>A		No	ClinGen gnomAD
rs779273174 CA349317445	644	T>I		No	ClinGen ExAC gnomAD
rs779273174 CA1970996	644	T>S		No	ClinGen ExAC gnomAD
CA349317469 rs772497418	647	F>L		No	ClinGen ExAC TOPMed gnomAD
CA349317481 rs1250240678	649	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs201855969 COSM99044 CA1970999	651	H>R	stomach [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1011100424 CA60784751	652	L>P		No	ClinGen Ensembl
rs768079064 CA1971001	654	S>P		No	ClinGen ExAC gnomAD
CA349317513 rs1461349976	655	R>W		No	ClinGen TOPMed gnomAD
CA1971002 rs776240826	658	G>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	658	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	662	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1971005 rs189397843	663	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1340625745 CA349317581	665	D>N		No	ClinGen gnomAD
rs542727830 CA1971006	666	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766107402 CA1971007	667	S>P		No	ClinGen ExAC gnomAD
CA349317604 rs1246070763	668	S>L		No	ClinGen gnomAD
rs1306546918 CA349317600	668	S>P		No	ClinGen gnomAD
CA1971009 rs756320487	670	R>K		No	ClinGen ExAC gnomAD
CA1971008 rs752940215	670	R>W		No	ClinGen ExAC gnomAD
CA1971012 rs376222255	671	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA1971010 rs369261075	671	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376222255 CA1971011	671	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs779564923 CA1971013	672	R>*		No	ClinGen ExAC TOPMed gnomAD
CA349317622 rs1191585876	672	R>Q		No	ClinGen gnomAD
rs758853363 CA1971015	674	S>*		No	ClinGen ExAC gnomAD
rs746315796 CA1971014	674	S>A		No	ClinGen ExAC TOPMed gnomAD
CA1971018 rs768407702	677	S>G		No	ClinGen ExAC TOPMed gnomAD
CA1971021 rs747762950	680	K>E		No	ClinGen ExAC gnomAD
CA1971022 rs769121487	681	Y>H		No	ClinGen ExAC gnomAD
rs1360582139 CA349317690	682	G>R		No	ClinGen gnomAD
RCV000901114 rs180986176 CA1971023	683	R>C		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs762829961 CA1971024	683	R>H		No	ClinGen ExAC TOPMed gnomAD
CA60784940 rs762829961	683	R>P		No	ClinGen ExAC TOPMed gnomAD
CA1971025 rs565825340	686	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1292102384 CA349317719	687	S>T		No	ClinGen TOPMed
rs759238614 CA1971027	688	L>F		No	ClinGen ExAC gnomAD
rs199876370 CA1971028	689	N>D		No	ClinGen ExAC TOPMed gnomAD
CA1971030 rs753940541	689	N>S		No	ClinGen ExAC TOPMed
CA1971031 rs757370306	690	S>Y		No	ClinGen ExAC gnomAD
TCGA novel	692	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1971032 rs765356134	692	P>R		No	ClinGen ExAC gnomAD
CA1971033 rs750995390	693	R>T		No	ClinGen ExAC TOPMed gnomAD
rs780680032 CA1971035	696	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA349317770 rs1380913188	696	Y>H		No	ClinGen gnomAD
rs1009662313 CA60785017	697	S>G		No	ClinGen TOPMed gnomAD
CA349317787 rs1392126827	698	G>V		No	ClinGen TOPMed
CA349317793 rs1156768110	699	K>R		No	ClinGen gnomAD
rs1344124826 CA349317803	700	S>R		No	ClinGen gnomAD
rs1325447833 CA349317836	705	P>L		No	ClinGen TOPMed
TCGA novel	706	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA60785056 rs376397839	706	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
rs200743663 CA1971036	707	R>K		No	ClinGen 1000Genomes ExAC gnomAD
rs755297753 CA1971037	708	G>E		No	ClinGen ExAC gnomAD
rs1021950421 CA60785069	710	Y>H		No	ClinGen TOPMed
rs780905562 CA1971038	711	P>L		No	ClinGen ExAC gnomAD
rs747700455 CA1971039	712	G>A		No	ClinGen ExAC gnomAD
rs769318639 CA1971040	713	K>N		No	ClinGen ExAC gnomAD
rs370569083 CA1971041	714	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA349317901 rs1558919626	716	R>G		No	ClinGen Ensembl
rs80325830 CA1971043	716	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	723	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774265936 CA1971044	724	P>L		No	ClinGen ExAC TOPMed gnomAD
rs774265936 CA1971045	724	P>R		No	ClinGen ExAC TOPMed gnomAD
CA349317953 rs1452983288	724	P>S		No	ClinGen TOPMed
CA349317962 rs1222991817	725	H>L		No	ClinGen TOPMed
rs771704862 CA1971046	725	H>Q		No	ClinGen ExAC gnomAD
CA349317959 rs1461034810	725	H>Y		No	ClinGen gnomAD
rs776930819 CA1971047	727	S>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	727	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765521794 CA1971049	728	P>L		No	ClinGen ExAC TOPMed gnomAD
rs763115679 CA1971051	729	D>A		No	ClinGen ExAC gnomAD
CA349317983 rs1233207957	729	D>H		No	ClinGen TOPMed
TCGA novel	731	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1971052 rs767063842	731	K>R		No	ClinGen ExAC gnomAD
rs1195305448 CA349318007	732	R>T		No	ClinGen gnomAD
CA1971053 rs751947634	733	S>G		No	ClinGen ExAC gnomAD
rs1331553767 CA349318013	733	S>N		No	ClinGen TOPMed gnomAD
CA1971054 rs755386781	733	S>R		No	ClinGen ExAC gnomAD
rs201768801 RCV000974045 CA1971055	735	R>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs752428495 CA1971056	736	D>H		No	ClinGen ExAC gnomAD
rs1437168816 CA349318052	739	Q>*		No	ClinGen TOPMed
CA349318058 rs56202258	740	P>A		No	ClinGen gnomAD
CA1971057 rs375140472	740	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs375140472 CA60785228	740	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs56202258 VAR_040810 CA60785207	740	P>T		No	ClinGen UniProt dbSNP gnomAD
CA349318067 rs1281461848	741	N>K		No	ClinGen gnomAD
CA349318074 rs1322838259	742	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1219503183 CA349318078	743	I>T		No	ClinGen gnomAD
rs1558919753 CA349318087	744	P>L		No	ClinGen Ensembl
CA349318088 rs1260204093	745	G>R		No	ClinGen gnomAD
CA349318090 rs1260204093	745	G>W		No	ClinGen gnomAD
rs906506846 CA60785243	746	M>I		No	ClinGen Ensembl
CA60785233 rs1046443981	746	M>K		No	ClinGen Ensembl
rs1295883653 CA349318102	747	P>A		No	ClinGen TOPMed
TCGA novel	748	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs935259411 CA60785254	748	L>S		No	ClinGen gnomAD
rs935259411 CA349318110	748	L>W		No	ClinGen gnomAD
rs184880152 CA1971059	749	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA349318120 rs1488771455	750	P>S		No	ClinGen gnomAD
CA1971060 rs770361569	751	E>K		No	ClinGen ExAC TOPMed gnomAD
CA349318126 rs770361569	751	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1360707286 CA349318134	752	T>A		No	ClinGen TOPMed
rs1172632761 CA349318139	753	D>N		No	ClinGen TOPMed
CA1971061 rs778921491	755	R>K		No	ClinGen ExAC gnomAD
rs948856314 CA60785279	756	A>T		No	ClinGen TOPMed gnomAD
rs771930218 CA1971063	757	S>R		No	ClinGen ExAC gnomAD
CA349318168 rs1427726723	757	S>T		No	ClinGen TOPMed
CA349318171 rs1408625736	758	E>K		No	ClinGen gnomAD
CA1971064 rs775186089	759	E>K		No	ClinGen ExAC TOPMed gnomAD
CA1971065 rs760519854	761	S>N		No	ClinGen ExAC gnomAD
TCGA novel	764	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1971067 rs200470997	765	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA349318230 CA1971068 rs763133997	766	G>R		No	ClinGen ExAC gnomAD
rs766510908 CA1971069	766	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1280399887 COSM1270660 CA349318234	767	G>S	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1279830887 CA349318238	767	G>V		No	ClinGen TOPMed
rs1337693942 CA349318247	768	W>C		No	ClinGen gnomAD
TCGA novel	768	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1209023932 CA349318254	769	T>K		No	ClinGen TOPMed
CA1971070 rs752132352	771	V>E		No	ClinGen ExAC gnomAD
CA1971071 rs759921612	772	E>K		No	ClinGen ExAC gnomAD
rs35608243 VAR_040811 CA1971072	773	Y>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA60785372 rs376247159	774	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA1971074 rs376247159	774	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs189762454 CA1971073	774	R>W		No	ClinGen 1000Genomes ExAC gnomAD
CA1971076 rs753431132	776	K>R		No	ClinGen ExAC TOPMed gnomAD
CA1971078 rs756780707	777	P>L		No	ClinGen ExAC gnomAD
CA349318304 rs1166897586	778	H>N		No	ClinGen TOPMed gnomAD
CA349318306 rs1166897586	778	H>Y		No	ClinGen TOPMed gnomAD
CA1971079 rs778244488	779	R>K		No	ClinGen ExAC gnomAD
CA349318317 rs745349798	779	R>S		No	ClinGen ExAC gnomAD
CA1971082 rs202237846	781	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA1971081 rs202237846	781	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	783	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM3407064 CA1971084 rs768503188	783	A>T	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
VAR_040812 rs55830025 CA1971085 RCV000974934	784	K>T		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs903513737 CA60785482	785	T>I		No	ClinGen TOPMed gnomAD
rs903513737 CA349318350	785	T>N		No	ClinGen TOPMed gnomAD
CA1971087 rs771075979	786	N>S		No	ClinGen ExAC gnomAD
CA1971089 rs759638929	787	K>R		No	ClinGen ExAC gnomAD
rs767968452 CA1971090	788	E>G		No	ClinGen ExAC gnomAD
CA60785533 rs1007605220	789	R>K		No	ClinGen TOPMed gnomAD
CA1971091 rs775907295	790	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1285759844 CA349318380	790	A>S		No	ClinGen gnomAD
CA349318384 rs1192064214	791	R>G		No	ClinGen TOPMed gnomAD
rs1237674102 CA349318386	791	R>K		No	ClinGen gnomAD
rs1238976186 CA349318397	793	D>N		No	ClinGen TOPMed
CA60785561 rs965745639	794	H>Q		No	ClinGen TOPMed gnomAD
CA349318412 rs1306713633	795	R>C		No	ClinGen TOPMed
CA1971092 rs761040219	795	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1971093 rs552836458	796	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA1971094 rs571238914	796	G>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1160750267 CA349318422	797	W>R		No	ClinGen gnomAD

2 associated diseases with Q9NYL2

[MIM: 616890]: Split-foot malformation with mesoaxial polydactyly (SFMMP)

An autosomal recessive disorder characterized by a split-foot defect, mesoaxial polydactyly, nail abnormalities of the hands, and sensorineural hearing loss. {ECO:0000269|PubMed:26755636, ECO:0000269|PubMed:32266845}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 617760]: Myopathy, centronuclear, 6, with fiber-type disproportion (CNM6)

A form of centronuclear myopathy, a congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. CNM6 is an autosomal recessive, slowly progressive form with onset in infancy or early childhood. {ECO:0000269|PubMed:27816943, ECO:0000269|PubMed:30237576}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal recessive disorder characterized by a split-foot defect, mesoaxial polydactyly, nail abnormalities of the hands, and sensorineural hearing loss. {ECO:0000269|PubMed:26755636, ECO:0000269|PubMed:32266845}. Note=The disease is caused by variants affecting the gene represented in this entry.
A form of centronuclear myopathy, a congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. CNM6 is an autosomal recessive, slowly progressive form with onset in infancy or early childhood. {ECO:0000269|PubMed:27816943, ECO:0000269|PubMed:30237576}. Note=The disease is caused by variants affecting the gene represented in this entry.

5 regional properties for Q9NYL2

Type	Name	Position	InterPro Accession
domain	Coagulation factor 5/8 C-terminal domain	24 - 181	IPR000421
domain	Protein kinase domain	527 - 785	IPR000719
domain	Serine-threonine/tyrosine-protein kinase, catalytic domain	530 - 784	IPR001245
active_site	Tyrosine-protein kinase, active site	641 - 653	IPR008266
domain	Tyrosine-protein kinase, catalytic domain	527 - 785	IPR020635

Functions

		Description
EC Number	2.7.11.25	Protein-serine/threonine kinases
Subcellular Localization	Cytoplasm Nucleus	Translocates to the nucleus upon ultraviolet B irradiation
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
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.
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.

7 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
JUN kinase kinase kinase activity	Catalysis of the reaction: JNKK + ATP = JNKK phosphate + ADP. This reaction is the phosphorylation and activation of JUN kinase kinases (JNKKs).
magnesium ion binding	Binding to a magnesium (Mg) ion.
MAP kinase kinase kinase activity	Catalysis of the phosphorylation and activation of a MAP kinase kinase; each MAP kinase kinase can be phosphorylated by any of several MAP kinase kinase kinases.
protein serine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate.
protein serine/threonine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.
RNA binding	Binding to an RNA molecule or a portion thereof.

15 GO annotations of biological process

Name	Definition
cell cycle	The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division.
cell death	Any biological process that results in permanent cessation of all vital functions of a cell. A cell should be considered dead when any one of the following molecular or morphological criteria is met: (1) the cell has lost the integrity of its plasma membrane; (2) the cell, including its nucleus, has undergone complete fragmentation into discrete bodies (frequently referred to as apoptotic bodies). The cell corpse (or its fragments) may be engulfed by an adjacent cell in vivo, but engulfment of whole cells should not be considered a strict criteria to define cell death as, under some circumstances, live engulfed cells can be released from phagosomes (see PMID:18045538).
cell differentiation	The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
cellular response to gamma radiation	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 gamma radiation stimulus. Gamma radiation is a form of electromagnetic radiation (EMR) or light emission of a specific frequency produced from sub-atomic particle interaction, such as electron-positron annihilation and radioactive decay. Gamma rays are generally characterized as EMR having the highest frequency and energy, and also the shortest wavelength, within the electromagnetic radiation spectrum.
cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures.
DNA damage checkpoint signaling	A signal transduction process that contributes to a DNA damage checkpoint.
embryonic digit morphogenesis	The process, occurring in the embryo, by which the anatomical structures of the digit are generated and organized. A digit is one of the terminal divisions of an appendage, such as a finger or toe.
JNK cascade	An intracellular protein kinase cascade containing at least a JNK (a MAPK), a JNKK (a MAPKK) and a JUN3K (a MAP3K). The cascade can also contain an additional tier: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinases in the downstream tier to transmit a signal within a cell.
limb development	The process whose specific outcome is the progression of a limb over time, from its formation to the mature structure. A limb is an appendage of an animal used for locomotion or grasping. Examples include legs, arms or some types of fin.
p38MAPK cascade	An intracellular protein kinase cascade containing at least a p38 MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tier: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinases in the downstream tier to transmit a signal within a cell.
peptidyl-serine phosphorylation	The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine.
positive regulation of apoptotic process	Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process.
positive regulation of mitotic DNA damage checkpoint	Any process that activates or increases the frequency, rate or extent of mitotic DNA damage checkpoint.
protein phosphorylation	The process of introducing a phosphate group on to a protein.
stress-activated MAPK cascade	The series of molecular signals in which a stress-activated MAP kinase cascade relays a signal; MAP kinase cascades involve at least three protein kinase activities and culminate in the phosphorylation and activation of a MAP kinase.

37 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A2VDU3	MAP3K7	Mitogen-activated protein kinase kinase kinase 7	Bos taurus (Bovine)	SS
Q4TVR5	DSTYK	Dual serine/threonine and tyrosine protein kinase	Bos taurus (Bovine)	PR
Q3SZJ2	RIPK2	Receptor-interacting serine/threonine-protein kinase 2	Bos taurus (Bovine)	PR
Q6XUX0	DSTYK	Dual serine/threonine and tyrosine protein kinase	Gallus gallus (Chicken)	PR
P83104	Takl1	Putative mitogen-activated protein kinase kinase kinase 7-like	Drosophila melanogaster (Fruit fly)	PR
Q95UN8	slpr	Mitogen-activated protein kinase kinase kinase	Drosophila melanogaster (Fruit fly)	EV
O43353	RIPK2	Receptor-interacting serine/threonine-protein kinase 2	Homo sapiens (Human)	PR
Q02779	MAP3K10	Mitogen-activated protein kinase kinase kinase 10	Homo sapiens (Human)	SS
Q8NB16	MLKL	Mixed lineage kinase domain-like protein	Homo sapiens (Human)	EV
Q16584	MAP3K11	Mitogen-activated protein kinase kinase kinase 11	Homo sapiens (Human)	EV
P00540	MOS	Proto-oncogene serine/threonine-protein kinase mos	Homo sapiens (Human)	PR
Q5TCX8	MAP3K21	Mitogen-activated protein kinase kinase kinase 21	Homo sapiens (Human)	PR
Q6XUX3	DSTYK	Dual serine/threonine and tyrosine protein kinase	Homo sapiens (Human)	PR
O43318	MAP3K7	Mitogen-activated protein kinase kinase kinase 7	Homo sapiens (Human)	SS
Q38SD2	LRRK1	Leucine-rich repeat serine/threonine-protein kinase 1	Homo sapiens (Human)	EV
P80192	MAP3K9	Mitogen-activated protein kinase kinase kinase 9	Homo sapiens (Human)	SS
Q80XI6	Map3k11	Mitogen-activated protein kinase kinase kinase 11	Mus musculus (Mouse)	PR
Q8VDG6	Map3k21	Mitogen-activated protein kinase kinase kinase 21	Mus musculus (Mouse)	PR
P58801	Ripk2	Receptor-interacting serine/threonine-protein kinase 2	Mus musculus (Mouse)	PR
Q62073	Map3k7	Mitogen-activated protein kinase kinase kinase 7	Mus musculus (Mouse)	EV
Q3U1V8	Map3k9	Mitogen-activated protein kinase kinase kinase 9	Mus musculus (Mouse)	SS
Q9D2Y4	Mlkl	Mixed lineage kinase domain-like protein	Mus musculus (Mouse)	SS
P00536	Mos	Proto-oncogene serine/threonine-protein kinase mos	Mus musculus (Mouse)	PR
Q66L42	Map3k10	Mitogen-activated protein kinase kinase kinase 10	Mus musculus (Mouse)	SS
Q9ESL4	Map3k20	Mitogen-activated protein kinase kinase kinase 20	Mus musculus (Mouse)	PR
P0C8E4	Map3k7	Mitogen-activated protein kinase kinase kinase 7	Rattus norvegicus (Rat)	SS
Q66HA1	Map3k11	Mitogen-activated protein kinase kinase kinase 11	Rattus norvegicus (Rat)	PR
D3ZG83	Map3k10	Mitogen-activated protein kinase kinase kinase 10	Rattus norvegicus (Rat)	SS
P00539	Mos	Proto-oncogene serine/threonine-protein kinase mos	Rattus norvegicus (Rat)	PR
Q9TZM3	lrk-1	Leucine-rich repeat serine/threonine-protein kinase 1	Caenorhabditis elegans	SS
Q9FPR3	EDR1	Serine/threonine-protein kinase EDR1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q2MHE4	HT1	Serine/threonine/tyrosine-protein kinase HT1	Arabidopsis thaliana (Mouse-ear cress)	PR
O22558	STY8	Serine/threonine-protein kinase STY8	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8RWL6	STY17	Serine/threonine-protein kinase STY17	Arabidopsis thaliana (Mouse-ear cress)	PR
F4JTP5	STY46	Serine/threonine-protein kinase STY46	Arabidopsis thaliana (Mouse-ear cress)	PR
Q05609	CTR1	Serine/threonine-protein kinase CTR1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q67E00	dstyk	Dual serine/threonine and tyrosine protein kinase	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR

10	20	30	40	50	60
MSSLGASFVQ	IKFDDLQFFE	NCGGGSFGSV	YRAKWISQDK	EVAVKKLLKI	EKEAEILSVL
70	80	90	100	110	120
SHRNIIQFYG	VILEPPNYGI	VTEYASLGSL	YDYINSNRSE	EMDMDHIMTW	ATDVAKGMHY
130	140	150	160	170	180
LHMEAPVKVI	HRDLKSRNVV	IAADGVLKIC	DFGASRFHNH	TTHMSLVGTF	PWMAPEVIQS
190	200	210	220	230	240
LPVSETCDTY	SYGVVLWEML	TREVPFKGLE	GLQVAWLVVE	KNERLTIPSS	CPRSFAELLH
250	260	270	280	290	300
QCWEADAKKR	PSFKQIISIL	ESMSNDTSLP	DKCNSFLHNK	AEWRCEIEAT	LERLKKLERD
310	320	330	340	350	360
LSFKEQELKE	RERRLKMWEQ	KLTEQSNTPL	LPSFEIGAWT	EDDVYCWVQQ	LVRKGDSSAE
370	380	390	400	410	420
MSVYASLFKE	NNITGKRLLL	LEEEDLKDMG	IVSKGHIIHF	KSAIEKLTHD	YINLFHFPPL
430	440	450	460	470	480
IKDSGGEPEE	NEEKIVNLEL	VFGFHLKPGT	GPQDCKWKMY	MEMDGDEIAI	TYIKDVTFNT
490	500	510	520	530	540
NLPDAEILKM	TKPPFVMEKW	IVGIAKSQTV	ECTVTYESDV	RTPKSTKHVH	SIQWSRTKPQ
550	560	570	580	590	600
DEVKAVQLAI	QTLFTNSDGN	PGSRSDSSAD	CQWLDTLRMR	QIASNTSLQR	SQSNPILGSP
610	620	630	640	650	660
FFSHFDGQDS	YAAAVRRPQV	PIKYQQITPV	NQSRSSSPTQ	YGLTKNFSSL	HLNSRDSGFS
670	680	690	700	710	720
SGNTDTSSER	GRYSDRSRNK	YGRGSISLNS	SPRGRYSGKS	QHSTPSRGRY	PGKFYRVSQS
730	740	750	760	770	780
ALNPHQSPDF	KRSPRDLHQP	NTIPGMPLHP	ETDSRASEED	SKVSEGGWTK	VEYRKKPHRP
790
SPAKTNKERA	RGDHRGWRNF