AiPD: Autoinhibited Protein Database

Q9Y616

Gene name	IRAK3
Protein name	Interleukin-1 receptor-associated kinase 3
Names	IRAK-3, IL-1 receptor-associated kinase M, IRAK-M, Inactive IL-1 receptor-associated kinase 3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:11213
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

69-152 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

69-152 (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

4 structures for Q9Y616

Entry ID	Method	Resolution	Chain	Position	Source
5UKE	NMR	-	A	1-119	PDB
6RUU	X-ray	295 A	A/B/C	145-454	PDB
6ZIW	X-ray	218 A	I	141-455	PDB
AF-Q9Y616-F1	Predicted				AlphaFoldDB

515 variants for Q9Y616

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA117577 rs121912630 RCV000005873	76	W>*	Asthma-related traits, susceptibility to, 5 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000201309 RCV001778770 rs776951445 RCV000966230	487	N>missing	Multisystem inflammatory syndrome in children Hirschsprung disease, susceptibility to, 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000911811 rs760304982	1	M>V		No	ClinVar dbSNP
RCV000520701 rs898461145 CA385617322	2	A>E		No	ClinGen ClinVar Ensembl dbSNP
rs898461145 CA238324825	2	A>G		No	ClinGen Ensembl
CA6672492 rs753480737	2	A>S		No	ClinGen ExAC gnomAD
rs1490213112 CA385617332	4	N>Y		No	ClinGen TOPMed
CA238324850 rs931346558	5	C>R		No	ClinGen TOPMed
rs778460591 CA6672494	5	C>S		No	ClinGen ExAC gnomAD
CA385617350 rs1208722094	7	A>T		No	ClinGen gnomAD
CA385617356 rs1485916109	8	R>C		No	ClinGen gnomAD
rs750346056 CA6672495	8	R>H		No	ClinGen ExAC gnomAD
CA385617361 rs1448544895	9	G>S		No	ClinGen TOPMed gnomAD
TCGA novel	10	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1174586608 CA385617376	11	L>P		No	ClinGen gnomAD
rs1213842807 CA385617380	12	S>*		No	ClinGen TOPMed
rs1015050347 CA238324868	12	S>A		No	ClinGen TOPMed gnomAD
CA385617398 rs1434715363	15	T>A		No	ClinGen TOPMed gnomAD
CA385617401 rs746775854	15	T>K		No	ClinGen ExAC TOPMed gnomAD
CA385617400 rs746775854	15	T>M		No	ClinGen ExAC TOPMed gnomAD
CA6672498 rs746775854	15	T>R		No	ClinGen ExAC TOPMed gnomAD
CA385617399 rs1434715363	15	T>S		No	ClinGen TOPMed gnomAD
rs768355162 CA6672499	16	L>V		No	ClinGen ExAC gnomAD
rs781457099 CA385617417 CA6672500	18	F>L		No	ClinGen ExAC TOPMed gnomAD
CA385617420 rs1217824229	19	D>H		No	ClinGen gnomAD
CA385617422 rs1408873504	19	D>V		No	ClinGen TOPMed
rs1040230341 CA238324933	21	P>L		No	ClinGen TOPMed gnomAD
CA238324932 rs1040230341	21	P>Q		No	ClinGen TOPMed gnomAD
rs1480111781 CA385617431	21	P>T		No	ClinGen TOPMed
rs994893586 CA238324937	22	P>A		No	ClinGen TOPMed gnomAD
CA6672501 rs536546109 VAR_035212	22	P>L	may be associated with ASRT5 [UniProt]	No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA6672502 rs769994274	23	A>V		No	ClinGen ExAC gnomAD
rs1189799866 CA385617457	26	G>*		No	ClinGen TOPMed gnomAD
CA238324994 rs995893941	26	G>A		No	ClinGen Ensembl
rs1189799866 CA385617456	26	G>R		No	ClinGen TOPMed gnomAD
rs1028762489 CA238324999	29	C>*		No	ClinGen TOPMed gnomAD
CA238325006 rs541354254	31	V>L		No	ClinGen Ensembl
rs1555201779 CA385617492 RCV000519842	32	L>M		No	ClinGen ClinVar Ensembl dbSNP
rs1161892905 CA385617497	33	D>N		No	ClinGen TOPMed gnomAD
rs1386630219 CA385617510	34	S>I		No	ClinGen gnomAD
CA385617529 rs1456709729	37	G>S		No	ClinGen gnomAD
CA385617536 rs1326843383	38	A>T		No	ClinGen gnomAD
rs1396900928 CA385617540	38	A>V		No	ClinGen gnomAD
rs1408761225 CA385617543	39	L>Q		No	ClinGen TOPMed
TCGA novel	42	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA238325022 rs1018598880	43	G>C		No	ClinGen TOPMed
CA238325016 rs1018598880	43	G>R		No	ClinGen TOPMed
CA238325023 rs976991963	44	L>P		No	ClinGen TOPMed
rs957237985 CA238325026	45	A>S		No	ClinGen TOPMed gnomAD
TCGA novel	46	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs940482150 CA238334975	47	R>G		No	ClinGen gnomAD
CA6672530 rs761027805	51	S>N		No	ClinGen ExAC gnomAD
rs764826050 CA6672531	51	S>R		No	ClinGen ExAC TOPMed gnomAD
rs772870648 CA6672532	52	W>C		No	ClinGen ExAC gnomAD
CA6672535 rs751514791	54	D>G		No	ClinGen ExAC TOPMed gnomAD
rs765849164 CA6672534	54	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs751514791 CA238335048	54	D>V		No	ClinGen ExAC TOPMed gnomAD
CA6672536 rs754932264	55	V>I		No	ClinGen ExAC gnomAD
rs201109976 CA6672537	56	R>C	Variant assessed as Somatic; 0.0002311 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6672538 rs369108977	56	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA385618005 rs369108977	56	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA238335057 rs369108977	56	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs35239505 CA6672541	57	H>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756006063 CA6672539	57	H>N		No	ClinGen ExAC TOPMed gnomAD
rs35239505 VAR_040581 CA6672540	57	H>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6672542 rs757352158	58	I>T		No	ClinGen ExAC TOPMed gnomAD
CA385618018 rs1468937137	59	E>*		No	ClinGen TOPMed
CA238335078 rs781625994	61	Y>C		No	ClinGen Ensembl
CA6672543 COSM3359897 rs572325225	64	Q>E	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs745973983 CA6672544	66	K>*		No	ClinGen ExAC gnomAD
COSM694751 CA238335090 rs865990467	66	K>R	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1565800117 CA385618084	68	G>E		No	ClinGen Ensembl
rs146641688 CA6672546	69	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA238335114 rs903262230	69	T>I		No	ClinGen Ensembl
rs1450816985 CA385618099	71	E>Q		No	ClinGen gnomAD
TCGA novel	73	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA385618124 rs1161104950	74	W>*		No	ClinGen gnomAD
rs561056770 CA6672548	74	W>S		No	ClinGen 1000Genomes ExAC gnomAD
CA6672549 rs772821863	75	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1227813553 CA385618134	76	W>R		No	ClinGen TOPMed
rs770465008 CA6672550	77	A>T		No	ClinGen ExAC gnomAD
CA385618173 rs1459170784	81	K>R		No	ClinGen gnomAD
CA385618181 rs1389026900	82	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA6672551 rs773680791	82	T>S		No	ClinGen ExAC gnomAD
rs34443407 CA6672554	84	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA385618190 rs1352822722	84	G>D		No	ClinGen gnomAD
VAR_040582 CA6672553 rs34443407 COSM942619	84	G>S	endometrium [Cosmic]	No	ClinGen cosmic curated UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA6672555 rs141465212	86	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs764045733 CA6672556	93	M>T		No	ClinGen ExAC gnomAD
CA6672557 rs754097794	94	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1324942453 CA385618257	94	G>R		No	ClinGen TOPMed
CA385618265 rs1168151857	95	H>R		No	ClinGen TOPMed
rs372148641 CA6672558	95	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs376833315 CA6672559	96	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA6672560 rs145220063	96	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA238335199 rs145220063	96	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs137909830 CA6672561	97	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs185025028 CA385618273	97	R>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA238335226 rs185025028	97	R>Q		No	ClinGen 1000Genomes TOPMed gnomAD
CA6672562 rs780513721	99	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6672563 rs747552971	100	H>N		No	ClinGen ExAC gnomAD
rs1425041261 CA385618290	100	H>R		No	ClinGen gnomAD
TCGA novel	102	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769006238 CA6672565	103	T>I		No	ClinGen ExAC TOPMed gnomAD
CA6672566 rs771872299	104	N>I		No	ClinGen ExAC gnomAD
CA6672568 rs748562608	105	Y>C		No	ClinGen ExAC gnomAD
CA6672569 rs748562608	105	Y>S		No	ClinGen ExAC gnomAD
CA238339149 rs906173497	106	G>E		No	ClinGen Ensembl
CA6672571 rs758922890	106	G>R		No	ClinGen ExAC
CA6672592 rs768670292	109	L>S		No	ClinGen ExAC TOPMed gnomAD
rs373806603 VAR_035213 CA6672593	111	P>A	may be associated with ASRT5; abolishes phosphorylation of Ser-110; abolishes interaction with PIN1; no effect on cytoplasmic localization; reduces protein stability [UniProt]	No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
rs1245802559 CA385618377	112	S>L		No	ClinGen gnomAD
TCGA novel	113	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	113	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6672594 rs142449223	116	Y>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA6672595 rs765118476	117	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA385618409 rs765118476	117	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1392492516 CA385618414	117	Q>H		No	ClinGen TOPMed
CA238339170 rs939026333	118	E>V		No	ClinGen TOPMed gnomAD
rs763220527 CA6672597	119	G>D		No	ClinGen ExAC gnomAD
CA6672598 rs766603091 CA238339187	120	G>R		No	ClinGen ExAC TOPMed gnomAD
rs968211366 CA238339202	124	I>V		No	ClinGen TOPMed
rs755086629 CA6672600	125	L>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel rs767967112 CA6672601	126	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
TCGA novel	127	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA238339714 rs76652915	129	T>P		No	ClinGen Ensembl
CA6672622 rs754211864	131	N>D		No	ClinGen ExAC gnomAD
rs757713644 CA6672623	131	N>S		No	ClinGen ExAC TOPMed gnomAD
CA238339757 rs911040007	132	V>L		No	ClinGen TOPMed
CA6672624 rs779830860	133	T>I		No	ClinGen ExAC TOPMed gnomAD
rs138559915 CA6672626 VAR_035214	134	V>M	may be associated with ASRT5 [UniProt]	No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
CA6672627 rs780809810	135	D>N		No	ClinGen ExAC gnomAD
rs370074058 CA6672629	139	I>L		No	ClinGen ESP ExAC gnomAD
CA6672630 rs777603604	140	P>L		No	ClinGen ExAC gnomAD
rs1431563621 CA385618581	142	H>L		No	ClinGen TOPMed gnomAD
CA6672631 rs374121984	142	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA6672632 rs770766205	143	N>D		No	ClinGen ExAC
CA385618591 rs1187059318	144	E>K		No	ClinGen TOPMed
CA385618607 rs1227016539	146	G>R		No	ClinGen gnomAD
CA385618626 rs1152888 CA385618625	147	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1592583780 CA385618630	147	I>M		No	ClinGen Ensembl
VAR_019812 CA6672651 rs1152888	147	I>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs556626340 CA385618633	148	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs556626340 CA6672653	148	L>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs556626340 CA6672652	148	L>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6672654 rs760782048	149	L>I		No	ClinGen ExAC gnomAD
CA385618643 rs1280841489	150	K>R		No	ClinGen TOPMed gnomAD
CA385618642 rs1280841489	150	K>T		No	ClinGen TOPMed gnomAD
rs930092062 CA238340677	151	S>P		No	ClinGen TOPMed gnomAD
rs570041996 CA6672655	152	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777273322 CA6672658	154	S>R		No	ClinGen ExAC TOPMed gnomAD
rs765851925 CA6672660	157	N>H		No	ClinGen ExAC TOPMed gnomAD
CA385618689 rs1186481472	157	N>T		No	ClinGen gnomAD
CA6672661 rs558902279	158	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA385618704 rs1174184267	159	I>T		No	ClinGen gnomAD
CA238340705 rs376414652	159	I>V		No	ClinGen ESP gnomAD
rs143759299 CA6672662	162	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs143759299 CA238340708	162	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	166	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	167	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1565802621 CA385618766	168	D>A		No	ClinGen Ensembl
CA385618780 rs1320870841	170	L>V		No	ClinGen gnomAD
VAR_040583 rs34682166 CA6672663	171	I>V		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA6672665 rs147244555	173	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1318984923 CA385618800	173	E>G		No	ClinGen gnomAD
rs1277113972 CA385618806	174	G>E		No	ClinGen gnomAD
CA385618805 rs1234605889	174	G>R		No	ClinGen gnomAD
CA6672666 rs755624194	175	E>V		No	ClinGen ExAC TOPMed gnomAD
CA238340749 rs942914280	176	I>F		No	ClinGen TOPMed
rs140751694 CA238340755	178	E>A		No	ClinGen ESP
RCV000884741 CA6672667 rs76408141	180	Y>*		No	ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD
CA385618844 rs1331520472	180	Y>H		No	ClinGen gnomAD
rs1331520472 CA385618843	180	Y>N		No	ClinGen gnomAD
rs200549011 CA6672669	181	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs757116260 CA6672671	182	V>G		No	ClinGen ExAC gnomAD
rs753764031 CA6672670	182	V>M		No	ClinGen ExAC gnomAD
rs1244889180 CA385618869	184	I>V		No	ClinGen gnomAD
CA6672673 rs745623261	186	N>K		No	ClinGen ExAC gnomAD
CA385618891 rs1267186383	187	L>V		No	ClinGen TOPMed
rs780292204 CA6672675	189	Y>*		No	ClinGen ExAC gnomAD
CA238340820 rs1041817873	190	A>D		No	ClinGen TOPMed
rs878956366 CA238340824	192	K>T		No	ClinGen Ensembl
CA238340829 rs909138636	196	Q>*		No	ClinGen gnomAD
rs1481936399 CA385618954	196	Q>H		No	ClinGen TOPMed
TCGA novel	196	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	198	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776897837	200	M>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA6672692 rs758207100	200	M>T		No	ClinGen ExAC gnomAD
CA238302020 rs953465508	201	Q>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA6672693 rs779770705	201	Q>L		No	ClinGen ExAC gnomAD
CA238302024 rs966686837	203	K>*		No	ClinGen TOPMed
CA6672694 rs139342884	203	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6672695 rs755183717	205	H>L		No	ClinGen ExAC TOPMed gnomAD
CA385619032 rs755183717	205	H>R		No	ClinGen ExAC TOPMed gnomAD
COSM1737005 CA385619041 rs1194704500	206	W>*	central_nervous_system [Cosmic]	No	ClinGen cosmic curated gnomAD
rs748191842 CA6672697	208	R>K		No	ClinGen ExAC gnomAD
CA385619075 rs1478233040	211	S>P		No	ClinGen TOPMed
rs1184877791 CA385619102	215	V>L		No	ClinGen gnomAD
rs756262514 CA6672715	220	H>R		No	ClinGen ExAC gnomAD
CA6672716 rs777777428	221	H>D		No	ClinGen ExAC gnomAD
CA6672717 rs767072251	224	I>T		No	ClinGen ExAC gnomAD
TCGA novel	226	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771278112 CA6672718	226	E>D		No	ClinGen ExAC gnomAD
rs539900265 CA238309045	228	A>S		No	ClinGen TOPMed gnomAD
CA238309050 rs1050757295	228	A>V		No	ClinGen gnomAD
rs779493715 CA6672719	234	T>I		No	ClinGen ExAC TOPMed gnomAD
rs184217408 CA6672720	235	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA385619930 rs1330911014	236	K>*		No	ClinGen TOPMed
rs1261923641 CA385619956	239	L>P		No	ClinGen TOPMed gnomAD
rs1261923641 CA385619955	239	L>Q		No	ClinGen TOPMed gnomAD
CA238309086 rs893031550	241	Y>C		No	ClinGen Ensembl
rs1329461427 CA385619977	242	P>L		No	ClinGen gnomAD
rs141426986 CA6672724	243	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA6672723 rs374736471	243	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1011912927 CA385619988	244	M>R		No	ClinGen TOPMed gnomAD
CA238309108 rs1011912927	244	M>T		No	ClinGen TOPMed gnomAD
rs1186504043 CA385619985	244	M>V		No	ClinGen gnomAD
CA6672725 rs143945987	245	R>I		No	ClinGen ESP ExAC gnomAD
CA6672726 rs143945987	245	R>K		No	ClinGen ESP ExAC gnomAD
rs1468381271 CA385620005	247	G>R		No	ClinGen Ensembl
rs751566315 CA6672728	248	T>A		No	ClinGen ExAC gnomAD
CA6672729 rs759374601	248	T>R		No	ClinGen ExAC gnomAD
rs1477688312 CA385620016	249	L>F		No	ClinGen TOPMed
rs1233398141 CA385620028	250	F>L		No	ClinGen TOPMed
rs752958814 CA6672732	254	Q>H		No	ClinGen ExAC gnomAD
CA238309138 rs774922233	254	Q>P		No	ClinGen Ensembl
CA385620065 rs756350725	256	V>I		No	ClinGen ExAC TOPMed gnomAD
CA6672733 rs756350725	256	V>L		No	ClinGen ExAC TOPMed gnomAD
rs146410666 CA6672754	259	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA6672756 rs757275173	260	A>T		No	ClinGen ExAC TOPMed gnomAD
CA385620113 rs1178930320	262	L>F		No	ClinGen TOPMed
CA6672757 rs765412194	264	W>*		No	ClinGen ExAC gnomAD
rs550967239 CA6672758	265	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6672759 rs367600113 RCV000479391	267	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs371798024 CA6672761	267	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs371798024 CA6672760 COSM170498	267	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA6672766 rs770335508	269	G>A		No	ClinGen ExAC TOPMed gnomAD
CA6672763 rs35823766	269	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs35823766 CA6672764	269	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs35823766 CA6672762 VAR_033901	269	G>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6672765 rs770335508	269	G>V		No	ClinGen ExAC TOPMed gnomAD
rs772098371 CA6672768	270	I>T		No	ClinGen ExAC gnomAD
CA6672767 VAR_031077 rs11465972	270	I>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA385620166 rs1228479756	271	L>F		No	ClinGen TOPMed
rs775593881 CA6672769	273	G>R		No	ClinGen ExAC gnomAD
CA385620184 rs1592594889	274	I>M		No	ClinGen Ensembl
CA6672770 rs376041596	274	I>V		No	ClinGen ESP ExAC gnomAD
CA6672771 rs764012411	275	S>T		No	ClinGen ExAC gnomAD
rs776700232 CA6672772	276	K>E		No	ClinGen ExAC gnomAD
rs868052862 CA238310493	277	A>D		No	ClinGen Ensembl
rs762036019 CA6672773 COSM1210892	277	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA6672774 rs765450222	278	I>V		No	ClinGen ExAC gnomAD
rs1244202929 CA385620209	279	H>Y		No	ClinGen gnomAD
rs140228894 CA6672775	281	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1407163526 CA385620232	282	H>L		No	ClinGen TOPMed gnomAD
rs1343526222 CA385620236	283	N>D		No	ClinGen TOPMed gnomAD
rs56274029 CA6672777	283	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs368501986 CA238310525	283	N>S		No	ClinGen ESP TOPMed
rs546694664 CA6672778	284	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6672780 rs35574245 VAR_040584	288	S>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA238310567 rs201535738	290	I>F		No	ClinGen gnomAD
rs756869397 CA6672782	292	G>S		No	ClinGen ExAC gnomAD
rs1390501413 CA385620300	293	S>G		No	ClinGen gnomAD
rs146977649 CA6672783	294	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs769618135 CA6672808	298	N>K		No	ClinGen ExAC gnomAD
TCGA novel	303	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6672809 rs773418206	304	Q>R		No	ClinGen ExAC gnomAD
CA6672810 rs763220626	307	P>L		No	ClinGen ExAC TOPMed gnomAD
CA385621478 rs1565812549	307	P>T		No	ClinGen Ensembl
rs1285282511 CA385621495	308	K>I		No	ClinGen TOPMed gnomAD
CA385621494 rs1285282511	308	K>R		No	ClinGen TOPMed gnomAD
CA385621506 rs1343642050	309	L>R		No	ClinGen gnomAD
CA238318261 rs981181042	310	T>I		No	ClinGen Ensembl
rs987720014 CA238318255	310	T>P		No	ClinGen TOPMed
CA238318263 rs771860766	311	D>E		No	ClinGen Ensembl
CA6672811 rs771156893	313	A>S		No	ClinGen ExAC gnomAD
rs1283240855 COSM77904 CA385621568	314	M>I	ovary large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA6672814 rs138154599	314	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs143718108 CA6672815 COSM1363679	314	M>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs138154599 CA6672813 COSM1363678	314	M>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA238318285 rs368878283	316	H>D		No	ClinGen ESP
rs1201413151 CA385621601	317	F>L		No	ClinGen gnomAD
CA6672818 COSM3718441 rs147221288	318	R>Q	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs779280048 CA6672817	318	R>W		No	ClinGen ExAC TOPMed gnomAD
CA6672820 rs758054666	320	H>R		No	ClinGen ExAC gnomAD
rs754265260 CA6672819	320	H>Y		No	ClinGen ExAC gnomAD
rs779602618 CA6672821	321	L>I		No	ClinGen ExAC gnomAD
rs1425846858 CA385621661	321	L>R		No	ClinGen gnomAD
rs751028733 CA6672822	323	H>R		No	ClinGen ExAC TOPMed gnomAD
CA6672823 rs754495502	325	S>N		No	ClinGen ExAC gnomAD
rs918445897 CA238318335	326	C>Y		No	ClinGen Ensembl
rs781152828 CA6672824	327	T>A		No	ClinGen ExAC TOPMed gnomAD
CA385621793 rs1289026690	328	I>V		No	ClinGen gnomAD
rs138984535 CA6672825	329	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs755890280 CA6672826 COSM147561	331	T>N	stomach [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA385621907 rs377162551	332	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs377162551 CA238318373	332	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA6672828 rs377162551 COSM549623	332	S>T	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs759734048 CA238318376	335	S>N		No	ClinGen Ensembl
rs1224705152 CA385621995	336	K>R		No	ClinGen gnomAD
rs771105562 CA6672829	337	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA6672830 rs774461962	338	L>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	340	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	341	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1251987506 CA385622115	341	M>V		No	ClinGen TOPMed gnomAD
rs199652305 CA6672831	345	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1232138914 CA385622241	346	I>L		No	ClinGen gnomAD
CA6672833 rs373648664	346	I>T		No	ClinGen ESP ExAC gnomAD
CA6672835 rs761201217	348	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1565812684 CA385622330	349	G>R		No	ClinGen Ensembl
CA385622346 rs1424533486	350	K>E		No	ClinGen gnomAD
rs764699734 CA6672836	350	K>N		No	ClinGen ExAC
CA385622363 rs777095382	351	L>I		No	ClinGen ExAC TOPMed gnomAD
rs777095382 CA6672837	351	L>V		No	ClinGen ExAC TOPMed gnomAD
CA6672838 rs762288493	352	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	352	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA238318415 rs780511488	352	S>T		No	ClinGen Ensembl
rs766993412 CA6672842	359	S>N		No	ClinGen ExAC TOPMed gnomAD
CA385622527 rs1247855562	359	S>R		No	ClinGen gnomAD
rs752218731 CA6672843	360	F>C		No	ClinGen ExAC gnomAD
CA385623231 rs1429189828	363	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1359882972 CA385623263	364	I>T		No	ClinGen TOPMed
TCGA novel	364	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1354266997 CA385623273	365	M>I		No	ClinGen TOPMed gnomAD
CA385623270 rs1226101740	365	M>T		No	ClinGen TOPMed gnomAD
CA6672860 rs759054038	366	E>G		No	ClinGen ExAC gnomAD
CA6672861 rs767205362	369	T>I		No	ClinGen ExAC
TCGA novel	370	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1449240577 CA385623402	372	R>G		No	ClinGen gnomAD
CA6672864 rs763999725	372	R>T		No	ClinGen ExAC gnomAD
rs753817232 CA6672865	373	V>A		No	ClinGen ExAC gnomAD
rs778511907 CA6672867	376	D>A		No	ClinGen ExAC gnomAD
CA238318564 rs974013252	376	D>N		No	ClinGen Ensembl
rs1339197757 CA385623546	378	P>L		No	ClinGen gnomAD
CA6672869 rs750232526	380	H>R		No	ClinGen ExAC TOPMed gnomAD
CA385623599 rs1253895074	382	Q>R		No	ClinGen TOPMed
RCV000598947 rs756789060	384	R>missing		No	ClinVar dbSNP
VAR_040585 CA6672892 rs34272472	384	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6672891 rs144713310	384	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770161897 CA6672894	385	D>E		No	ClinGen ExAC gnomAD
CA6672893 rs748265814	385	D>V		No	ClinGen ExAC TOPMed
CA6672895 rs778369302	386	L>I		No	ClinGen ExAC gnomAD
TCGA novel	386	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771328368 CA6672897	387	L>R		No	ClinGen ExAC TOPMed gnomAD
rs775123485 CA238318681	390	L>M		No	ClinGen ExAC TOPMed gnomAD
VAR_040586 rs35737689 CA6672899	391	M>T		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs878901559 CA238318693	395	G>S		No	ClinGen Ensembl
TCGA novel	397	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6672901 rs776074851	399	C>R		No	ClinGen ExAC gnomAD
CA6672903 rs146120640	400	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146120640 CA6672902 VAR_035215	400	L>V	may be associated with ASRT5 [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6672906 rs766334157	403	L>P		No	ClinGen ExAC TOPMed gnomAD
CA6672907 COSM3376341 rs751413861	404	D>H	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
TCGA novel	405	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764674154 CA6672909 RCV000487255	406	K>*		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs868260845 CA238318714	406	K>R		No	ClinGen TOPMed
CA385624122 rs868260845	406	K>T		No	ClinGen TOPMed
rs574242281 CA6672911	408	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA238318730 rs147846659	410	C>*		No	ClinGen 1000Genomes
CA238318736 rs750591565	411	P>R		No	ClinGen Ensembl
CA6672914 rs146885838 COSM468785	412	R>Q	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA6672913 rs143857306	412	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779178353 CA6672916	413	N>D		No	ClinGen ExAC gnomAD
rs1446464839 CA385624192	413	N>S		No	ClinGen gnomAD
CA238318750 rs531978801	416	A>S		No	ClinGen Ensembl
CA6672917 rs746259388	416	A>V		No	ClinGen ExAC TOPMed
rs374097834 CA6672918	417	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA238318752 rs890593437	418	L>F		No	ClinGen TOPMed gnomAD
CA6672919 rs776392808	418	L>H		No	ClinGen ExAC gnomAD
rs769411219 CA6672921	420	C>W		No	ClinGen ExAC TOPMed gnomAD
CA6672920 rs371562025	420	C>Y		No	ClinGen ESP ExAC gnomAD
CA6672922 rs773009494	422	A>V		No	ClinGen ExAC gnomAD
CA6672925 rs200460084	424	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs200319498 CA6672924	424	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs527607271 CA6672926	425	C>G		No	ClinGen 1000Genomes ExAC gnomAD
rs368242544 CA6672927	427	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA6672928 rs188575230	428	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA238318770 rs199538395	429	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3722186 rs140671957 VAR_035216 CA6672931	429	R>Q	upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. may be associated with ASRT5 [Cosmic, NCI-TCGA, UniProt]	No	ClinGen cosmic curated UniProt 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA6672930 rs199538395	429	R>W	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA238318780 rs149662082	430	A>T		No	ClinGen ESP gnomAD
rs1204931818 CA385624350	431	K>R		No	ClinGen TOPMed
rs1555205452 CA385624360	433	R>G		No	ClinGen Ensembl
CA385624363 rs1452848808	433	R>T		No	ClinGen gnomAD
CA385624367 rs1337808915	434	P>T		No	ClinGen TOPMed gnomAD
rs1385432148 CA385624374	435	S>P		No	ClinGen gnomAD
CA238318789 rs1019907524	436	M>I		No	ClinGen gnomAD
CA6672934 rs555279649	436	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1433436479 CA385624692	439	V>I		No	ClinGen TOPMed gnomAD
rs1433436479 CA385624690	439	V>L		No	ClinGen TOPMed gnomAD
TCGA novel	440	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA385624704 rs1268494671	441	N>D		No	ClinGen gnomAD
CA385624711 rs1220441468	442	T>A		No	ClinGen TOPMed
CA385624712 rs1220441468	442	T>P		No	ClinGen TOPMed
TCGA novel	442	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1438019075 CA385624747	447	Q>*		No	ClinGen TOPMed
CA6672948 rs773108503	448	A>G		No	ClinGen ExAC TOPMed gnomAD
CA385624757 rs773108503	448	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6672950 rs11465987	449	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	451	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA385624780 rs1592606543	452	F>I		No	ClinGen Ensembl
CA6672952 rs576840693	454	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA6672953 rs148849112	455	D>N		No	ClinGen ESP ExAC TOPMed
rs148849112 CA238319890	455	D>Y		No	ClinGen ESP ExAC TOPMed
rs1050541614 CA238319892	456	P>L		No	ClinGen TOPMed gnomAD
rs1284633034 CA385624814	457	P>H		No	ClinGen gnomAD
CA6672954 rs146967312	457	P>S		No	ClinGen ESP ExAC gnomAD
rs565909471 CA6672956	458	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs893277456 CA385624831	460	L>P		No	ClinGen TOPMed
rs893277456 CA238319905	460	L>R		No	ClinGen TOPMed
CA385624844 TCGA novel rs1592606579	462	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
rs748786712 CA6672958	462	S>P		No	ClinGen ExAC gnomAD
rs1443242325 CA385624860	464	R>S		No	ClinGen TOPMed
CA238319920 rs112027335	465	C>F		No	ClinGen TOPMed gnomAD
CA238319916 rs112027335	465	C>Y		No	ClinGen TOPMed gnomAD
CA6672959 rs368882241	466	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1177143612 CA385624883	467	S>F		No	ClinGen TOPMed
CA6672960 rs778991659	468	P>S		No	ClinGen ExAC gnomAD
CA385624896 rs1386052020	469	L>V		No	ClinGen gnomAD
rs967445749 CA238319932	472	E>K		No	ClinGen gnomAD
CA385624938 rs548229277	473	N>K		No	ClinGen 1000Genomes TOPMed gnomAD
CA6672961 rs745862579	475	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1239541423 CA385624971	476	S>N		No	ClinGen TOPMed
CA385624963 rs1212348905	476	S>R		No	ClinGen Ensembl
VAR_040587 CA6672962 rs35756811	482	D>N		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs138072996 CA238319940	484	S>G		No	ClinGen ESP TOPMed
CA385625106 rs1343897314	487	N>D		No	ClinGen gnomAD
CA238319947 rs776840714	488	N>H		No	ClinGen gnomAD
CA238319954 rs1036122409	488	N>K		No	ClinGen Ensembl
CA238319950 rs776840714	488	N>Y		No	ClinGen gnomAD
rs1222053383 CA385625148	491	P>S		No	ClinGen gnomAD
rs1278031153 CA385625163	492	S>F		No	ClinGen TOPMed
rs111559223 CA238319960	493	D>G		No	ClinGen Ensembl
CA6672966 rs768898014	494	E>K		No	ClinGen ExAC TOPMed gnomAD
CA238319976 rs142170277	495	G>S		No	ClinGen ESP TOPMed gnomAD
rs568160958 CA238319980	497	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6672968 rs568160958	497	R>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765356638 CA385625219	498	I>L		No	ClinGen ExAC TOPMed gnomAD
rs750506993 CA6672970	498	I>T		No	ClinGen ExAC TOPMed gnomAD
CA6672969 rs765356638	498	I>V		No	ClinGen ExAC TOPMed gnomAD
rs146096735 CA6672971	499	D>E		No	ClinGen ESP ExAC gnomAD
CA238319995 rs374643456	499	D>G		No	ClinGen ESP
rs1357311684 CA385625259	501	M>I		No	ClinGen TOPMed
CA6672973 rs766817443	502	T>A		No	ClinGen ExAC gnomAD
CA6672972 rs766817443	502	T>P		No	ClinGen ExAC gnomAD
CA385625304 rs1174747708	504	K>N		No	ClinGen TOPMed
rs1228789551 CA385625319	505	T>N		No	ClinGen gnomAD
CA385625361 rs1157422234	507	F>L		No	ClinGen gnomAD
rs1592606720 CA385625384	509	C>R		No	ClinGen Ensembl
rs755336882 CA6672974	511	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA6672976 rs753600407	514	V>I		No	ClinGen ExAC gnomAD
CA385625499 rs1262347615	515	M>I		No	ClinGen TOPMed gnomAD
CA6672978 rs778496638	517	L>R		No	ClinGen ExAC gnomAD
CA6672979 rs370972433	519	L>S		No	ClinGen ESP ExAC gnomAD
rs535365734 CA238320057	520	D>E		No	ClinGen ExAC TOPMed gnomAD
CA6672981 rs148276665	521	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA385625588 rs1289047276	522	K>N		No	ClinGen TOPMed gnomAD
rs746800484 CA6672982	523	P>Q		No	ClinGen ExAC gnomAD
rs768396002 CA385625597	524	E>K		No	ClinGen ExAC TOPMed gnomAD
CA6672983 rs768396002	524	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA6672984 rs200746636	525	S>N		No	ClinGen ExAC gnomAD
rs1177183511 CA385625620	525	S>R		No	ClinGen gnomAD
CA6672985 rs748305138	526	K>E		No	ClinGen ExAC gnomAD
rs770017795 CA6672986	528	N>D		No	ClinGen ExAC gnomAD
CA6672988 rs762973317	531	A>D		No	ClinGen ExAC gnomAD
rs1457443666 CA385625762	532	C>F		No	ClinGen gnomAD
CA6672989 rs766878009	533	N>K		No	ClinGen ExAC gnomAD
CA238320082 rs922959047 CA385625799	534	M>I		No	ClinGen TOPMed
CA238320088 COSM123777 rs200823147	535	P>S	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes
CA6672991 rs759930394	540	E>A		No	ClinGen ExAC gnomAD
CA6672992 rs768059387	542	S>C		No	ClinGen ExAC TOPMed gnomAD
CA385625947 rs1383257454	542	S>I		No	ClinGen gnomAD
rs1383257454 CA385625944	542	S>T		No	ClinGen gnomAD
rs753112482 CA6672993	543	W>*		No	ClinGen ExAC gnomAD
CA6672994 rs150402157	545	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA385626034 rs1315501264	546	K>R		No	ClinGen TOPMed
CA6672995 rs765000159	547	Y>N		No	ClinGen ExAC TOPMed gnomAD
rs749925478 CA6672996	548	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1050614832 CA238320110	549	V>L		No	ClinGen Ensembl
CA385626117 rs1252503578	550	P>S		No	ClinGen gnomAD
CA6672997 rs757899664	551	S>Y		No	ClinGen ExAC gnomAD
rs947527303 CA238320113	552	Q>R		No	ClinGen Ensembl
rs1257894167 CA385626179	553	D>Y		No	ClinGen gnomAD
rs374349371 RCV000598621 CA6672999	554	L>*		No	ClinGen ClinVar ESP ExAC dbSNP gnomAD
CA6673000 rs754949453	557	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1423694757 CA385626270	558	K>E		No	ClinGen gnomAD
rs149578067 CA6673001	559	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6673003 rs769964405	561	I>T		No	ClinGen ExAC gnomAD
CA385626370 rs1170226284	563	P>A		No	ClinGen gnomAD
rs539690265 CA6673005	563	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6673004 rs539690265	563	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	563	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6673007 rs138274217	568	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376077090 CA6673008	570	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs140116682 CA238320149	572	C>*		No	ClinGen ESP
rs1297101700 CA385626609	572	C>F		No	ClinGen gnomAD
CA385626670 rs1337768547	576	P>T		No	ClinGen gnomAD
CA385626686 rs1469097756	577	V>M		No	ClinGen gnomAD
CA385626698 rs1217700166	578	E>*		No	ClinGen gnomAD
CA6673009 rs768147683	578	E>D		No	ClinGen ExAC gnomAD
rs775943532 CA6673010	579	S>G		No	ClinGen ExAC TOPMed gnomAD
CA6673011 rs761166185	579	S>N		No	ClinGen ExAC TOPMed gnomAD
rs764965386 CA6673012	579	S>R		No	ClinGen ExAC TOPMed gnomAD
CA238320177 rs752069642	580	S>N		No	ClinGen TOPMed gnomAD
CA6673014 rs200655368	583	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA385626782 rs1430280633	584	K>N		No	ClinGen gnomAD
rs1193262505 CA385626781	584	K>R		No	ClinGen TOPMed gnomAD
CA385626810 rs1173709685	587	W>R		No	ClinGen gnomAD
rs1391754194 CA385626850	590	Y>H		No	ClinGen TOPMed gnomAD
TCGA novel	592	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA238320188 rs878890304	593	Y>*		No	ClinGen Ensembl
rs765742705 CA6673015	593	Y>C		No	ClinGen ExAC gnomAD
CA6673016 rs751095771	594	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA385626899 rs1319751709	596	E>A		No	ClinGen TOPMed
CA385626904 rs1358122294	597	E>K		No	ClinGen TOPMed gnomAD

1 associated diseases with Q9Y616

[MIM: 611064]: Asthma-related traits 5 (ASRT5)

Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed by methacholine challenge test, serum IgE levels, atopy and atopic dermatitis. {ECO:0000269|PubMed:17503328}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

Without disease ID

Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed by methacholine challenge test, serum IgE levels, atopy and atopic dermatitis. {ECO:0000269|PubMed:17503328}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

3 regional properties for Q9Y616

Type	Name	Position	InterPro Accession
domain	SH3 domain	290 - 349	IPR001452
domain	BAR domain	5 - 249	IPR004148
domain	Endophilin-A, SH3 domain	293 - 347	IPR035824

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Nucleus	In dendritic cells, translocates into the nucleus upon IL33 stimulation
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.
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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

6 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
magnesium ion binding	Binding to a magnesium (Mg) ion.
protein heterodimerization activity	Binding to a nonidentical protein to form a heterodimer.
protein homodimerization activity	Binding to an identical protein to form a homodimer.
protein kinase binding	Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
protein serine/threonine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.

26 GO annotations of biological process

Name	Definition
cytokine-mediated signaling pathway	The series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
interleukin-1-mediated signaling pathway	The series of molecular signals initiated by interleukin-1 binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
intracellular signal transduction	The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
MyD88-dependent toll-like receptor signaling pathway	A toll-like receptor signaling pathway in which the MyD88 adaptor molecule mediates transduction of the signal. Toll-like receptors directly bind pattern motifs from a variety of microbial sources to initiate an innate immune response.
negative regulation of cytokine-mediated signaling pathway	Any process that stops, prevents, or reduces the frequency, rate or extent of the cytokine mediated signaling pathway.
negative regulation of innate immune response	Any process that stops, prevents, or reduces the frequency, rate or extent of the innate immune response.
negative regulation of interleukin-12 production	Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-12 production.
negative regulation of interleukin-6 production	Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-6 production.
negative regulation of macrophage cytokine production	Any process that decreases the rate, frequency or extent of macrophage cytokine production. Macrophage cytokine production is the appearance of a chemokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels.
negative regulation of MAP kinase activity	Any process that stops, prevents, or reduces the frequency, rate or extent of MAP kinase activity.
negative regulation of NF-kappaB transcription factor activity	Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of the transcription factor NF-kappaB.
negative regulation of protein catabolic process	Any process that stops, prevents or reduces the frequency, rate or extent of protein catabolic process.
negative regulation of protein-containing complex disassembly	Any process that stops, prevents, or reduces the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components.
negative regulation of toll-like receptor signaling pathway	Any process that stops, prevents, or reduces the frequency, rate, or extent of toll-like receptor signaling pathway.
negative regulation of tumor necrosis factor production	Any process that stops, prevents, or reduces the frequency, rate, or extent of tumor necrosis factor production.
positive regulation of cytokine production	Any process that activates or increases the frequency, rate or extent of production of a cytokine.
positive regulation of macrophage tolerance induction	Any process that increases the frequency, rate, or extent of B cell tolerance induction.
positive regulation of NF-kappaB transcription factor activity	Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB.
protein autophosphorylation	The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation).
protein phosphorylation	The process of introducing a phosphate group on to a protein.
regulation of protein-containing complex disassembly	Any process that modulates the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components.
response to exogenous dsRNA	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 an exogenous double-stranded RNA stimulus.
response to interleukin-1	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 an interleukin-1 stimulus.
response to lipopolysaccharide	Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria.
response to peptidoglycan	Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptidoglycan stimulus. Peptidoglycan is a bacterial cell wall macromolecule.
response to virus	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a virus.

24 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P53667	LIMK1	LIM domain kinase 1	Homo sapiens (Human)	PR
P53671	LIMK2	LIM domain kinase 2	Homo sapiens (Human)	PR
Q8CFA1	Irak2	Interleukin-1 receptor-associated kinase-like 2	Mus musculus (Mouse)	PR
O54785	Limk2	LIM domain kinase 2	Mus musculus (Mouse)	PR
Q8K4B2	Irak3	Interleukin-1 receptor-associated kinase 3	Mus musculus (Mouse)	PR
Q4QQS0	Irak2	Interleukin-1 receptor-associated kinase-like 2	Rattus norvegicus (Rat)	PR
Q9ASQ5	CRCK3	Calmodulin-binding receptor-like cytoplasmic kinase 3	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8LPS5	SERK5	Somatic embryogenesis receptor kinase 5	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8RWW0	ALE2	Receptor-like serine/threonine-protein kinase ALE2	Arabidopsis thaliana (Mouse-ear cress)	PR
P93050	BSH	Probable LRR receptor-like serine/threonine-protein kinase RKF3	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LRP3	At3g17420	Probable receptor-like protein kinase At3g17420	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LSV3	WAKL16	Putative wall-associated receptor kinase-like 16	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9STF0	LECRKS3	Receptor like protein kinase S.3	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SCZ4	FER	Receptor-like protein kinase FERONIA	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9M342	WAKL15	Wall-associated receptor kinase-like 15	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LYN6	At3g56050	Probable inactive receptor-like protein kinase At3g56050	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8VZJ9	CRCK2	Calmodulin-binding receptor-like cytoplasmic kinase 2	Arabidopsis thaliana (Mouse-ear cress)	PR
Q0WNY5	WAKL18	Wall-associated receptor kinase-like 18	Arabidopsis thaliana (Mouse-ear cress)	PR
P43293	PBL11	Probable serine/threonine-protein kinase PBL11	Arabidopsis thaliana (Mouse-ear cress)	PR
Q94C25	At5g20050	Probable receptor-like protein kinase At5g20050	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FLW0	At5g24010	Probable receptor-like protein kinase At5g24010	Arabidopsis thaliana (Mouse-ear cress)	PR
Q3E8W4	ANX2	Receptor-like protein kinase ANXUR2	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LTC0	PBL19	Probable serine/threonine-protein kinase PBL19	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FIL7	CRCK1	Calmodulin-binding receptor-like cytoplasmic kinase 1	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MAGNCGARGA	LSAHTLLFDL	PPALLGELCA	VLDSCDGALG	WRGLAERLSS	SWLDVRHIEK
70	80	90	100	110	120
YVDQGKSGTR	ELLWSWAQKN	KTIGDLLQVL	QEMGHRRAIH	LITNYGAVLS	PSEKSYQEGG
130	140	150	160	170	180
FPNILFKETA	NVTVDNVLIP	EHNEKGILLK	SSISFQNIIE	GTRNFHKDFL	IGEGEIFEVY
190	200	210	220	230	240
RVEIQNLTYA	VKLFKQEKKM	QCKKHWKRFL	SELEVLLLFH	HPNILELAAY	FTETEKFCLI
250	260	270	280	290	300
YPYMRNGTLF	DRLQCVGDTA	PLPWHIRIGI	LIGISKAIHY	LHNVQPCSVI	CGSISSANIL
310	320	330	340	350	360
LDDQFQPKLT	DFAMAHFRSH	LEHQSCTINM	TSSSSKHLWY	MPEEYIRQGK	LSIKTDVYSF
370	380	390	400	410	420
GIVIMEVLTG	CRVVLDDPKH	IQLRDLLREL	MEKRGLDSCL	SFLDKKVPPC	PRNFSAKLFC
430	440	450	460	470	480
LAGRCAATRA	KLRPSMDEVL	NTLESTQASL	YFAEDPPTSL	KSFRCPSPLF	LENVPSIPVE
490	500	510	520	530	540
DDESQNNNLL	PSDEGLRIDR	MTQKTPFECS	QSEVMFLSLD	KKPESKRNEE	ACNMPSSSCE
550	560	570	580	590
ESWFPKYIVP	SQDLRPYKVN	IDPSSEAPGH	SCRSRPVESS	CSSKFSWDEY	EQYKKE