AiPD: Autoinhibited Protein Database

Q8IWQ3

Gene name	BRSK2 (C11orf7, PEN11B, SADA, STK29, HUSSY-12)
Protein name	Serine/threonine-protein kinase BRSK2
Names	Brain-selective kinase 2, Brain-specific serine/threonine-protein kinase 2, BR serine/threonine-protein kinase 2, Serine/threonine-protein kinase 29, Serine/threonine-protein kinase SAD-A
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9024
EC number	2.7.11.1: Protein-serine/threonine kinases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

328-545 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

328-545 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

158-180 (Activation loop from InterPro)

Target domain	10-354 (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

1 structures for Q8IWQ3

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8IWQ3-F1	Predicted				AlphaFoldDB

561 variants for Q8IWQ3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs772319187 RCV001260905 CA5810613	234	H>Q	Intellectual disability [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1846541343 RCV001266743	566	S>F	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
CA379045908 rs1345487728	2	T>I		No	ClinGen gnomAD
CA379045910 rs1345487728	2	T>K		No	ClinGen gnomAD
CA379045918 rs1280994254	3	S>*		No	ClinGen gnomAD
CA379045921 rs1280994254	3	S>L		No	ClinGen gnomAD
CA379045927 rs1213536325	4	T>K		No	ClinGen gnomAD
CA379045930 rs1213536325	4	T>M		No	ClinGen gnomAD
rs1365565026 CA379045933	5	G>R		No	ClinGen TOPMed
rs768751497 CA5810264	6	K>Q		No	ClinGen ExAC gnomAD
rs868587759 CA217018259	7	D>E		No	ClinGen Ensembl
CA379045963 rs533360037	7	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs533360037 CA5810265	7	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs897841626 CA217018266	9	G>S		No	ClinGen TOPMed
CA217018270 rs866510134	10	A>E		No	ClinGen Ensembl
CA379045998 rs1454129707	10	A>T		No	ClinGen gnomAD
rs866723489 CA217018275	11	Q>H		No	ClinGen TOPMed
CA379046010 rs1158299113	11	Q>L		No	ClinGen TOPMed
rs868713777 CA217018280	12	H>N		No	ClinGen TOPMed
rs1427673568 CA379046046	12	H>Q		No	ClinGen TOPMed gnomAD
rs1191913618 CA379046031	12	H>R		No	ClinGen TOPMed
rs868713777 CA379046024	12	H>Y		No	ClinGen TOPMed
CA217018285 rs865909153	13	A>E		No	ClinGen Ensembl
rs867826838 CA217018287	16	V>I		No	ClinGen Ensembl
CA217018296 rs866045059	18	P>L		No	ClinGen Ensembl
rs868753376 CA379046159	18	P>S		No	ClinGen gnomAD
CA217018292 rs868753376	18	P>T		No	ClinGen gnomAD
rs867752792 CA217018299	19	Y>*		No	ClinGen gnomAD
TCGA novel	19	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs964581334 CA217018309	22	E>G		No	ClinGen Ensembl
CA379046343 rs1435121485	27	K>R		No	ClinGen TOPMed gnomAD
CA379046410 rs1322143563	31	G>C		No	ClinGen gnomAD
CA5810362 rs557744898	35	L>R		No	ClinGen 1000Genomes ExAC gnomAD
rs778625648 CA5810363	38	H>R		No	ClinGen ExAC gnomAD
CA5810365 rs757781225	40	V>I		No	ClinGen ExAC TOPMed gnomAD
CA379055435 rs1362237707	41	T>S		No	ClinGen TOPMed
rs746593089 CA5810367	43	Q>*		No	ClinGen ExAC gnomAD
CA5810368 rs371698384	45	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1430741844 CA379055552	50	V>I		No	ClinGen gnomAD
TCGA novel	54	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5810372 rs769136628	54	K>E		No	ClinGen ExAC gnomAD
CA5810371 rs769136628	54	K>Q		No	ClinGen ExAC gnomAD
CA379055638 rs1456435938	56	S>N		No	ClinGen gnomAD
rs1379253051 CA379055646	57	E>K		No	ClinGen TOPMed gnomAD
CA217050064 rs766693701	58	S>L		No	ClinGen TOPMed gnomAD
rs1341201081 CA379055707	61	M>T		No	ClinGen gnomAD
CA379056389 rs1590535975	68	A>T		No	ClinGen Ensembl
CA5810397 rs541482444	68	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA379056403 rs1564842155	69	I>N		No	ClinGen Ensembl
RCV000994539 rs1590536106 CA379056419	70	L>P		No	ClinGen ClinVar Ensembl dbSNP
rs1267635689 CA379056461	73	I>T		No	ClinGen gnomAD
CA379056514 rs1210833275	77	H>N		No	ClinGen gnomAD
CA379056525 rs1451422934	78	V>I		No	ClinGen gnomAD
CA5810403 rs780824430	82	H>Y		No	ClinGen ExAC gnomAD
rs530349423 CA5810405	83	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1465081253 COSM925303 CA379056586	83	D>N	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs748760656 CA5810407	84	V>I		No	ClinGen ExAC gnomAD
rs868590575 CA217051059	87	N>K		No	ClinGen Ensembl
rs778285727 CA5810409	90	Y>C		No	ClinGen ExAC gnomAD
CA379056706 rs1170728470	92	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA217052235 rs868564758	93	L>P		No	ClinGen Ensembl
rs764532316 CA5810444	98	V>L		No	ClinGen ExAC gnomAD
rs764532316 CA379056749	98	V>M		No	ClinGen ExAC gnomAD
rs1389626943 CA379056927	110	K>R		No	ClinGen TOPMed
rs371891449 CA5810451	114	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA379056980 rs1564846465	115	P>S		No	ClinGen Ensembl
rs774130722 CA5810453	119	R>Q		No	ClinGen ExAC gnomAD
rs1192222075 CA379057030	119	R>W		No	ClinGen TOPMed
rs1308797440 CA379057042	120	K>Q		No	ClinGen gnomAD
CA5810456 rs199906333	123	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA379057087 rs772013439	123	R>W		No	ClinGen ExAC TOPMed gnomAD
CA379057096 rs1590563867	124	Q>K		No	ClinGen Ensembl
rs765866674 CA5810458	129	L>M		No	ClinGen ExAC gnomAD
CA5810459 rs776196812	130	D>A		No	ClinGen ExAC
rs199504223 CA5810461	133	H>P		No	ClinGen ExAC gnomAD
TCGA novel	137	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379057530 rs1590585568	146	N>T		No	ClinGen Ensembl
CA379057589 rs1205772599	151	E>K		No	ClinGen gnomAD
rs780046641 CA5810504	152	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1482280576 CA379057622	153	N>H		No	ClinGen gnomAD
TCGA novel	154	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5810505 rs762670042	156	R>C		No	ClinGen ExAC gnomAD
CA5810506 rs772602106	156	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1197643534 CA379058398	157	I>V		No	ClinGen TOPMed
CA5810508 rs760893367	158	A>V		No	ClinGen ExAC gnomAD
CA217052731 rs1035544645	163	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA5810510 rs754262868	164	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs752958439 CA5810513	169	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	177	G>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379058744 rs1590590990	178	S>P		No	ClinGen Ensembl
rs1191075872 CA379058863	186	V>A		No	ClinGen TOPMed
CA379058878 rs1225673813	187	I>M		No	ClinGen gnomAD
rs1288263482 CA379058884	188	R>Q		No	ClinGen gnomAD
TCGA novel	189	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777347842 CA5810567	195	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1341160148 CA379059024	195	R>W		No	ClinGen TOPMed
rs1363461485 CA379059051	197	A>V		No	ClinGen gnomAD
TCGA novel	198	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5810570 rs775999014	199	V>A		No	ClinGen ExAC TOPMed gnomAD
CA379059072 rs1157259679	199	V>M		No	ClinGen gnomAD
TCGA novel	200	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1275853318 CA379059126	203	G>S		No	ClinGen gnomAD
rs1183820258 CA379059138	204	V>I		No	ClinGen gnomAD
CA379059184 rs1472801906	207	F>Y		No	ClinGen TOPMed
rs1187879162 CA379059194	208	A>T		No	ClinGen TOPMed gnomAD
CA379059298 RCV000601804 rs1554904772	212	G>E		No	ClinGen ClinVar Ensembl dbSNP
CA5810603 rs752637187	213	A>S		No	ClinGen ExAC gnomAD
rs1249678678 CA379059353	217	D>N		No	ClinGen gnomAD
CA379059432 rs1564852311	222	R>Q		No	ClinGen Ensembl
rs34384990 CA217053281	224	L>V		No	ClinGen Ensembl
CA379059470 rs1239724823	225	L>M		No	ClinGen TOPMed
CA5810611 rs779311878	230	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs375647380 CA5810610	230	R>W		No	ClinGen ESP ExAC gnomAD
CA379059567 rs748666906	232	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5810612 rs748666906	232	V>M		No	ClinGen ExAC TOPMed gnomAD
CA379059593 rs1307192576	234	H>Y		No	ClinGen gnomAD
rs1290715861 CA379059622	235	M>I		No	ClinGen gnomAD
rs777999310 CA5810614	235	M>V		No	ClinGen ExAC gnomAD
CA379059633 rs1401222564	236	P>L		No	ClinGen TOPMed
CA379059648 rs1272651198	237	H>Q		No	ClinGen TOPMed gnomAD
CA217053301 rs967422037	237	H>Y		No	ClinGen TOPMed gnomAD
rs373413941 CA5810616	240	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5810620 rs775335543	243	C>S		No	ClinGen ExAC gnomAD
rs1386236165 CA379059716	245	S>G		No	ClinGen gnomAD
rs994102095 CA217053313	248	R>Q		No	ClinGen TOPMed
CA5810623 rs773836974	248	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	249	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs377340979 CA5810624	250	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1375121848 CA379059759 COSM379829	252	E>K	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA5810627 rs374809159	255	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs753324222 CA5810629	256	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5810630 rs758964640	257	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5810631 rs778370045	257	R>H		No	ClinGen ExAC TOPMed gnomAD
CA379059793 rs1427272559	258	R>C		No	ClinGen gnomAD
rs576539978 CA217053327	260	T>K		No	ClinGen 1000Genomes TOPMed
CA217053329 rs576539978	260	T>M		No	ClinGen 1000Genomes TOPMed
rs1018941772 CA217053823	263	H>Q		No	ClinGen TOPMed
CA379059950 rs1198130693	263	H>Y		No	ClinGen gnomAD
rs778675209 CA5810677	264	I>V		No	ClinGen ExAC gnomAD
rs1481252510 CA379059979	265	Q>E		No	ClinGen gnomAD
CA379059991 rs1483201217	266	K>Q		No	ClinGen TOPMed
TCGA novel	266	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5810678 rs374834244	268	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA379060029 rs1205921229	268	I>T		No	ClinGen TOPMed
CA217053826 rs965107147	268	I>V		No	ClinGen TOPMed gnomAD
rs772063451 CA5810679	269	W>*		No	ClinGen ExAC gnomAD
rs1564855545 CA379060058	270	Y>C		No	ClinGen Ensembl
rs777509447 CA5810680	271	I>T		No	ClinGen ExAC gnomAD
rs1474374996 CA379060180	272	G>A		No	ClinGen gnomAD
rs757243236 CA5810716	272	G>R		No	ClinGen ExAC gnomAD
rs745374865 CA379060187	273	G>C		No	ClinGen ExAC TOPMed gnomAD
rs745374865 CA5810718	273	G>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	274	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748868217 CA5810721	278	E>K		No	ClinGen ExAC TOPMed gnomAD
rs368326057 CA217053964	279	P>L		No	ClinGen ESP
CA379060276 rs1453785940	279	P>T		No	ClinGen gnomAD
rs1339067979 CA379060289	280	E>Q		No	ClinGen gnomAD
rs1325248763 CA379060316	281	Q>H		No	ClinGen gnomAD
rs773437532 CA5810723	284	P>S		No	ClinGen ExAC gnomAD
rs1015139726 CA217053969	285	R>C		No	ClinGen Ensembl
rs747317464 CA5810724	285	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1312650779 CA379060374	286	K>E		No	ClinGen TOPMed
CA5810725 rs771432906	287	V>M		No	ClinGen ExAC gnomAD
CA5810727 rs759639655 COSM925312	290	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA379060434 rs1204118010 COSM1507554	290	R>H	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1445282678 CA379060528	297	D>N		No	ClinGen gnomAD
CA379060556 rs1373731808 COSM925315	299	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA379060591 rs1470412247	301	D>G		No	ClinGen gnomAD
CA5810732 rs751321340	301	D>N		No	ClinGen ExAC gnomAD
TCGA novel	302	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000599297 rs1554906003	303	L>missing		No	ClinVar dbSNP
rs1383254796 CA379060641	305	S>G		No	ClinGen TOPMed gnomAD
rs200112243 CA217053985	305	S>N		No	ClinGen gnomAD
rs767593252 CA5810734	306	M>V		No	ClinGen ExAC gnomAD
CA379060676 rs1326526005	307	H>Y		No	ClinGen gnomAD
rs375785459 CA5810736	313	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5810737 rs779426839	315	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5810738 rs753586550	315	R>H		No	ClinGen ExAC gnomAD
rs771240533 CA379060852	320	Q>H		No	ClinGen ExAC gnomAD
rs1197421503 CA379060849	320	Q>R		No	ClinGen gnomAD
CA5810743 rs781701964	324	S>F		No	ClinGen ExAC gnomAD
CA5810746 rs747709336	325	E>K		No	ClinGen ExAC TOPMed gnomAD
rs966168531 CA217054059	327	E>K		No	ClinGen TOPMed
rs1402221655 CA379061021	328	N>S		No	ClinGen gnomAD
rs1335802237 CA379061033	329	Q>E		No	ClinGen gnomAD
rs1383500273 CA379061041	329	Q>P		No	ClinGen gnomAD
TCGA novel	337	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1460128365 CA379061185	340	R>W		No	ClinGen gnomAD
rs1484563028 CA379061267	346	S>R		No	ClinGen gnomAD
CA379061327 rs1259069169	349	D>E		No	ClinGen gnomAD
rs1425377225 CA379061373	353	P>T		No	ClinGen gnomAD
rs746803578 CA5810791	354	P>H		No	ClinGen ExAC TOPMed gnomAD
rs746803578 CA379061390	354	P>L		No	ClinGen ExAC TOPMed gnomAD
rs746803578 CA379061388	354	P>R		No	ClinGen ExAC TOPMed gnomAD
CA5810790 rs773529064	354	P>S		No	ClinGen ExAC gnomAD
rs779380593	355	R>P	Variant assessed as Somatic; 5.383e-05 impact. [NCI-TCGA]	No	NCI-TCGA
rs759518070 COSM144117 CA5810794	355	R>Q	upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs776475802 CA217054079	355	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1160323104 CA379061556	362	R>Q		No	ClinGen gnomAD
CA379061552 rs1440246278	362	R>W		No	ClinGen gnomAD
CA217054135 rs1028608903	368	P>L		No	ClinGen Ensembl
CA379061654 rs1351884955	369	M>I		No	ClinGen gnomAD
CA5810833 rs199517090	372	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1307679370 CA379061687	372	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA5810835 rs749191273	374	G>S		No	ClinGen ExAC gnomAD
CA5810838 rs761161802	376	R>Q		No	ClinGen ExAC gnomAD
CA5810836 rs768222423	376	R>W		No	ClinGen ExAC gnomAD
TCGA novel	377	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1289959412 CA379061747	377	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA379061764 rs1412269781	378	P>L		No	ClinGen TOPMed
CA5810839 COSM687126 COSM1646415 rs771787614	380	R>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs973759533 CA217054153	381	K>E		No	ClinGen Ensembl
rs760029079 CA5810841	383	M>V		No	ClinGen ExAC gnomAD
rs1458005280 CA379061834	384	E>K		No	ClinGen gnomAD
CA379061857 rs1590612694	385	V>G		No	ClinGen Ensembl
rs765668287 CA5810842	385	V>L		No	ClinGen ExAC gnomAD
rs1252355922 CA379061872	387	S>G		No	ClinGen gnomAD
CA217054159 rs1043560005	387	S>T		No	ClinGen TOPMed
rs374367074 CA379061886 CA379061887	388	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5810844 rs374367074	388	V>M	Variant assessed as Somatic; 4.651e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs368418167 CA5810845	389	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5810847 rs757240167	390	D>G		No	ClinGen ExAC gnomAD
CA5810849 rs201204162	391	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs779818282 CA5810851	392	G>C		No	ClinGen ExAC gnomAD
CA5810853 rs767305413	394	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1212461673 CA379061980	396	P>A		No	ClinGen gnomAD
CA379061990 rs1564858169	397	A>S		No	ClinGen Ensembl
CA5810855 rs747715851	397	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5810857 rs772959193	398	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA217054180 rs1043745449	398	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5810858 rs746658894	399	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1209098792 CA379062007	399	R>W		No	ClinGen Ensembl
CA379062015 rs1188086469	400	A>T		No	ClinGen gnomAD
CA5810859 rs376516938	402	E>D		No	ClinGen ExAC gnomAD
rs1239309324 CA379062034	402	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5810860 rs776014876	403	M>T		No	ClinGen ExAC gnomAD
CA379062071 rs1424669841	404	A>D		No	ClinGen gnomAD
rs1424669841 CA379062075	404	A>V		No	ClinGen gnomAD
CA379062100 rs1458267676	406	H>P		No	ClinGen TOPMed
rs368608811 CA5810862	407	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1564867655 CA379074692	411	R>L		No	ClinGen Ensembl
CA379074689 rs1564867655	411	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs745960971 CA5810938	411	R>W		No	ClinGen ExAC TOPMed gnomAD
rs376752748 CA5810940	413	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5810943 rs201822879	415	G>S		No	ClinGen ExAC TOPMed gnomAD
rs767385660 CA5810945	417	S>A		No	ClinGen ExAC gnomAD
CA379074826 rs1264931885	419	G>C		No	ClinGen gnomAD
rs1246221170 CA379074829	419	G>D		No	ClinGen TOPMed
CA5810949 rs200882947	420	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA379074865 rs1425525357	421	S>Y		No	ClinGen gnomAD
CA379074926 rs1336136772	424	P>L		No	ClinGen TOPMed
CA5810953 rs757572062	426	S>G		No	ClinGen ExAC gnomAD
CA379074954 rs1407986386	428	P>L		No	ClinGen TOPMed
CA379074949 rs1307338548	428	P>T		No	ClinGen TOPMed
rs746350820 CA379074955	429	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5810956 rs756212367	429	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs746350820 CA5810955	429	R>W		No	ClinGen ExAC TOPMed gnomAD
rs769355521 CA5811003	431	T>A		No	ClinGen ExAC gnomAD
CA5811004 rs774997180	431	T>I		No	ClinGen ExAC TOPMed gnomAD
rs774997180 CA216135013	431	T>N		No	ClinGen ExAC TOPMed gnomAD
rs762306078 CA5811006	432	P>A		No	ClinGen ExAC gnomAD
CA5811005 rs762306078	432	P>S		No	ClinGen ExAC gnomAD
rs1590650266 CA379074987	433	H>R		No	ClinGen Ensembl
rs34310716 CA5811007	434	P>H		No	ClinGen ExAC gnomAD
rs34310716 CA216135039	434	P>L		No	ClinGen ExAC gnomAD
CA379074991 rs1428295154	434	P>T		No	ClinGen TOPMed
CA216135048 rs1039901099	437	R>K		No	ClinGen TOPMed gnomAD
CA216135053 rs900074798	438	G>S		No	ClinGen TOPMed gnomAD
CA5811011 rs760133399	439	S>N		No	ClinGen ExAC gnomAD
CA5811012 rs765772158	439	S>R		No	ClinGen ExAC gnomAD
rs1272842290 CA379075029	440	P>L		No	ClinGen gnomAD
CA5811014 rs758357978	441	L>F		No	ClinGen ExAC TOPMed gnomAD
CA379075033 rs1282592656	441	L>P		No	ClinGen TOPMed gnomAD
CA5811016 rs373456866	442	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1215948881 CA379075036	442	P>S		No	ClinGen gnomAD
rs780957053 CA5811018	443	T>S		No	ClinGen ExAC TOPMed gnomAD
CA379075050 rs1432955664	444	P>L		No	ClinGen TOPMed
CA379075045 rs1377362684	444	P>S		No	ClinGen gnomAD
rs745607962 CA5811019	446	G>E		No	ClinGen ExAC gnomAD
CA379075059 rs1478648131	446	G>R		No	ClinGen gnomAD
rs756053508 CA5811020	447	T>A		No	ClinGen ExAC gnomAD
CA5811021 rs779928807	447	T>I		No	ClinGen ExAC gnomAD
CA5811022 rs748854665	448	P>S		No	ClinGen ExAC gnomAD
CA379075077 rs1168777616	449	V>A		No	ClinGen TOPMed
CA379075073 rs1372568918	449	V>I		No	ClinGen TOPMed
TCGA novel	449	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1383555621 CA379075088	451	T>A		No	ClinGen gnomAD
rs369672997 CA379075090	451	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs369672997 CA5811023	451	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA5811026 rs771791861	454	E>K		No	ClinGen ExAC gnomAD
CA379075114 COSM1184968 rs1424860106	455	S>G	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA379075118 rs1351391456	455	S>R		No	ClinGen TOPMed gnomAD
CA216135166 rs1025462381	455	S>T		No	ClinGen TOPMed
CA379075125 rs1239591863	456	P>L		No	ClinGen TOPMed gnomAD
CA5811028 rs759937359	458	G>S		No	ClinGen ExAC gnomAD
rs544618758 CA5811030	459	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764072644 CA5811032	460	P>S		No	ClinGen ExAC TOPMed gnomAD
CA5811033 rs751870939	462	P>L		No	ClinGen ExAC gnomAD
rs1291368556 CA379075157	462	P>S		No	ClinGen TOPMed
rs1455044354 CA379075165	463	T>M		No	ClinGen gnomAD
rs1387186797 CA379075177	465	P>L		No	ClinGen gnomAD
rs1454270702 CA379075172	465	P>T		No	ClinGen gnomAD
CA379075182 rs1396406644	466	S>C		No	ClinGen gnomAD
CA216135245 rs568030355	469	S>N		No	ClinGen Ensembl
rs542402758 CA5811039	470	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5811042 rs374666145	471	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1357288779 CA379075223	473	V>L		No	ClinGen gnomAD
TCGA novel	473	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1216004623 CA379075244	476	R>K		No	ClinGen gnomAD
rs772949637 CA5811045	477	A>T		No	ClinGen ExAC gnomAD
rs746280969 CA5811046	477	A>V		No	ClinGen ExAC TOPMed gnomAD
CA379076216 rs1564871438	478	R>Q		No	ClinGen Ensembl
CA379076258 rs1184753615	480	N>K		No	ClinGen gnomAD
CA5811049 rs561026739	483	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs951574775 CA216135322	486	F>C		No	ClinGen Ensembl
CA379076435 rs1331903079	489	S>P		No	ClinGen gnomAD
CA379076468 rs1331283922	491	R>C		No	ClinGen TOPMed
CA5811053 rs531413807 COSM3787027 COSM3787026	491	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs1590652000 CA379076482	492	F>L		No	ClinGen Ensembl
CA379076509 rs1394411294	493	H>Y		No	ClinGen gnomAD
CA379076531 rs1312075246	494	R>H		No	ClinGen gnomAD
CA5811055 rs760504592	495	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs750623215 CA5811054	495	R>W		No	ClinGen ExAC gnomAD
CA379076577 rs1276713234	497	L>P		No	ClinGen gnomAD
TCGA novel	499	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760767620 CA5811092	500	P>L	Variant assessed as Somatic; 4.644e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1021653080 CA216136538	501	T>M		No	ClinGen gnomAD
rs765073528 CA5811097	502	P>L	Variant assessed as Somatic; 4.644e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
TCGA novel	502	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	502	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379076880 rs1379706417	503	E>D		No	ClinGen gnomAD
CA379076907 rs1428713195	504	E>D		No	ClinGen gnomAD
rs762994850 CA5811099	504	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA216136581 rs1040846618	505	M>T		No	ClinGen TOPMed gnomAD
rs764060097 CA5811100	506	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1244893301 CA379076982	508	L>V		No	ClinGen TOPMed
RCV000497073 rs1135402760	511	E>missing		No	ClinVar dbSNP
rs756744631 CA379077049 CA5811102	511	E>D		No	ClinGen ExAC TOPMed gnomAD
rs996650766 CA216136608	512	S>L		No	ClinGen TOPMed gnomAD
rs370439651 CA216136641	515	E>Q		No	ClinGen ESP
CA379077679 rs1356947195	516	L>M		No	ClinGen gnomAD
rs1216637755 CA379077698	517	A>V		No	ClinGen gnomAD
TCGA novel	522	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379077799 rs1590682208	524	N>H		No	ClinGen Ensembl
rs374069559 CA5811139	525	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA216140682 rs1031793618	526	I>S		No	ClinGen Ensembl
CA379077857 rs1478533537	527	S>T		No	ClinGen TOPMed
CA5811141 rs371657564	533	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs763373338 CA5811143	534	I>T		No	ClinGen ExAC gnomAD
CA5811142 rs753455740	534	I>V		No	ClinGen ExAC gnomAD
rs751810457 CA379077981	536	V>L		No	ClinGen ExAC TOPMed gnomAD
rs751810457 CA5811145	536	V>M		No	ClinGen ExAC TOPMed gnomAD
rs750541969 CA5811148	542	P>L		No	ClinGen ExAC gnomAD
CA379078111 rs1171292118	544	S>N		No	ClinGen gnomAD
CA379078153 rs1248097061	547	K>R		No	ClinGen TOPMed
rs749521325 CA5811151	548	A>G		No	ClinGen ExAC gnomAD
TCGA novel	551	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1397680763 CA379078220	552	H>Y		No	ClinGen gnomAD
rs1326757909 CA379078237	553	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1432846774 CA379078287	556	S>L		No	ClinGen gnomAD
rs762280710 CA5811185	561	S>R		No	ClinGen ExAC gnomAD
CA5811184 rs774985884	561	S>R		No	ClinGen ExAC TOPMed gnomAD
rs767772129 CA216142993	563	S>R		No	ClinGen ExAC TOPMed gnomAD
CA379079368 rs1293088344	563	S>R		No	ClinGen gnomAD
CA5811187 rs773917255	564	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1480584784 CA379079403	565	I>T		No	ClinGen TOPMed gnomAD
CA5811188 rs761278547	565	I>V		No	ClinGen ExAC gnomAD
CA5811190 rs754003730	568	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1185293325 CA379079456	569	S>C		No	ClinGen gnomAD
CA5811193 rs752855575	571	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1475439639 CA379079485	571	R>W		No	ClinGen gnomAD
rs777442074 CA5811195	573	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1231417618 CA379079535	574	Y>F		No	ClinGen gnomAD
CA379079527 rs1298837834	574	Y>H		No	ClinGen gnomAD
rs746735741 CA5811196	577	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
rs746735741 CA379079580	577	T>R		No	ClinGen ExAC TOPMed
CA5811199 rs33996815	578	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA379079589 rs33996815	578	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5811198 CA379079585 rs781055469	578	G>R		No	ClinGen ExAC gnomAD
CA5811200 rs33996815	578	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775284096 CA5811202	579	G>A		No	ClinGen ExAC TOPMed gnomAD
CA379079598 rs1272382753	579	G>R		No	ClinGen TOPMed
rs775284096 CA5811201	579	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1228729665 CA379079621	581	A>P		No	ClinGen gnomAD
TCGA novel	581	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767016763 CA5811206	582	V>M	Variant assessed as Somatic; 5.051e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA379079707 rs1256434246	586	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA5811208 rs759726194	587	V>I		No	ClinGen ExAC gnomAD
rs765217929 CA5811209	588	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1564884833 CA379079745	589	F>L		No	ClinGen Ensembl
rs1267511315 CA379079819	593	I>T		No	ClinGen Ensembl
CA5811212 rs766193013	594	T>I		No	ClinGen ExAC TOPMed gnomAD
rs374392356 CA5811213	595	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA379079857 rs1416784207	596	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA379079862 rs1361646489	597	E>K		No	ClinGen gnomAD
rs1383096171 CA379079877	598	G>S		No	ClinGen TOPMed gnomAD
rs781151332 CA5811215	598	G>V		No	ClinGen ExAC TOPMed gnomAD
CA379079895 rs1310939910	599	G>E		No	ClinGen gnomAD
CA5811216 rs750326699	601	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA379079934 rs1486742285	602	Q>P		No	ClinGen TOPMed
rs748766791 CA5811219	603	K>E		No	ClinGen ExAC gnomAD
TCGA novel	604	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379079967 rs1175771624	604	E>K		No	ClinGen gnomAD
CA379079969 rs1175771624	604	E>Q		No	ClinGen gnomAD
CA379080001 rs199989188	605	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5811222 rs747429345	606	G>S		No	ClinGen ExAC gnomAD
rs1238260017 CA379080009	607	I>V		No	ClinGen TOPMed
rs759974512 CA5811225	610	V>I		No	ClinGen ExAC gnomAD
CA379080035 rs1330037068	611	T>A		No	ClinGen gnomAD
CA379080052 rs1157246299	613	T>S		No	ClinGen gnomAD
CA5811228 rs763035713	614	L>R		No	ClinGen ExAC gnomAD
CA5811229 rs764345731	615	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1481093096 CA379080092	618	P>L		No	ClinGen TOPMed gnomAD
rs375167793 CA216143579	618	P>S		No	ClinGen ESP TOPMed gnomAD
TCGA novel	619	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA216143606 rs892187128	619	S>C		No	ClinGen TOPMed
rs1415918197 CA379080102	620	R>C		No	ClinGen gnomAD
CA379080108 rs1198947199 RCV000612110	621	R>C		No	ClinGen ClinVar TOPMed dbSNP
CA216143629 rs966973013	621	R>H		No	ClinGen Ensembl
rs1420739550 CA379080123	623	K>R		No	ClinGen gnomAD
rs769097848 CA5811268	624	R>K		No	ClinGen ExAC TOPMed gnomAD
CA379080131 rs1252232154	624	R>S		No	ClinGen TOPMed
CA379080143 rs1442261316	626	V>A		No	ClinGen gnomAD
rs1590701921 CA379080151	627	E>D		No	ClinGen Ensembl
rs1218353641 CA379080154	628	T>A		No	ClinGen TOPMed
rs1309522420 CA379080156	628	T>N		No	ClinGen gnomAD
CA216143642 rs200143851	630	Q>H		No	ClinGen gnomAD
CA379080183 rs1414009809	632	Q>R		No	ClinGen gnomAD
rs201661688 CA5811270	635	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA379080205 rs1212682216	636	T>A		No	ClinGen TOPMed gnomAD
CA379080206 rs1212682216	636	T>S		No	ClinGen TOPMed gnomAD
rs772305366 CA379080216 CA379080217	637	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1590702104 CA379080214	637	H>R		No	ClinGen Ensembl
CA5811272 rs773462632	638	D>N		No	ClinGen ExAC gnomAD
CA5811273 rs555903939	639	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA379080225 rs1207358238	639	P>S		No	ClinGen gnomAD
CA379080235 rs1189100585	640	P>L		No	ClinGen gnomAD
rs1169555477 CA379080230	640	P>T		No	ClinGen TOPMed
CA5811275 rs776229687	641	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1420817316 CA379080244	642	A>D		No	ClinGen TOPMed gnomAD
CA379080241 rs1167884554	642	A>T		No	ClinGen gnomAD
rs1373239905 CA379080261	644	H>Q		No	ClinGen gnomAD
CA5811277 rs765226907	644	H>Y		No	ClinGen ExAC gnomAD
rs1483482409 CA379081597	652	M>T		No	ClinGen TOPMed gnomAD
CA5811355 rs373425934	653	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA5811354 rs373425934	653	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA379081619 rs1313217835	653	E>V		No	ClinGen gnomAD
CA216149321 rs895206142	654	M>T		No	ClinGen TOPMed
CA5811356 rs200347162	655	M>T		No	ClinGen 1000Genomes ExAC gnomAD
CA5811357 rs377345773	656	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA379081682 rs1392048606	657	G>E		No	ClinGen TOPMed gnomAD
COSM3666214 CA5811358 COSM1604361 rs185262747	657	G>R	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA5811361 rs770615206	658	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs746469963 CA5811360 COSM1352821	658	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA379081711 rs1467955623	660	S>P		No	ClinGen gnomAD
CA379081737 rs1267454538	662	C>R		No	ClinGen TOPMed
rs776112411 CA5811363	662	C>Y		No	ClinGen ExAC gnomAD
CA379081869 rs1590738578	664	S>R		No	ClinGen Ensembl
CA379081873 rs1348351611	664	S>T		No	ClinGen TOPMed
CA379081877 rs1195656978	665	P>T		No	ClinGen Ensembl
CA5811479 rs757170803	666	L>S		No	ClinGen ExAC gnomAD
CA379081889 rs1169448241	667	S>G		No	ClinGen TOPMed gnomAD
CA379081892 rs1184806542	667	S>N		No	ClinGen gnomAD
rs1169448241 CA379081891	667	S>R		No	ClinGen TOPMed gnomAD
rs1590738785 CA379081902	668	N>I		No	ClinGen Ensembl
CA379081900 rs1590738785	668	N>T		No	ClinGen Ensembl
CA379081917 rs1255791176	670	F>S		No	ClinGen gnomAD
rs781136731 CA379081928	671	D>E		No	ClinGen ExAC TOPMed gnomAD
CA379081922 rs1475185585	671	D>H		No	ClinGen TOPMed gnomAD
CA379081926 rs1590738875	671	D>V		No	ClinGen Ensembl
CA379081921 rs1475185585	671	D>Y		No	ClinGen TOPMed gnomAD
CA379081931 rs1416568772	672	V>I		No	ClinGen TOPMed gnomAD
CA379081929 rs1416568772	672	V>L		No	ClinGen TOPMed gnomAD
CA5811481 rs749951372	673	I>T		No	ClinGen ExAC gnomAD
rs1590738968 CA379081941	674	K>Q		No	ClinGen Ensembl
rs755620220 CA5811482	675	Q>E		No	ClinGen ExAC gnomAD
rs1590739066 CA379081955	675	Q>H		No	ClinGen Ensembl
CA379081951 rs1429936276	675	Q>R		No	ClinGen gnomAD
CA379081982 rs1590739108	679	D>A		No	ClinGen Ensembl
rs1353369069 CA379081986	679	D>E		No	ClinGen gnomAD
rs1590739108 CA379081983	679	D>V		No	ClinGen Ensembl
CA379081990 rs1284769058	680	E>G		No	ClinGen TOPMed gnomAD
rs779919104 CA5811483	680	E>K		No	ClinGen ExAC TOPMed gnomAD
rs779919104 CA379081987	680	E>Q		No	ClinGen ExAC TOPMed gnomAD
RCV001091845 rs1847343158	681	K>missing		No	ClinVar dbSNP
CA379081995 rs1381247201	681	K>E		No	ClinGen gnomAD
rs748939987 CA379082008	682	N>K		No	ClinGen ExAC TOPMed gnomAD
CA5811485 rs768368517	683	G>R		No	ClinGen ExAC TOPMed gnomAD
CA5811486 rs555891855	685	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1847344648 RCV001054728	686	A>missing		No	ClinVar dbSNP
rs1278422157 CA379082028	686	A>T		No	ClinGen gnomAD
CA379082037 rs1590739377	687	Q>P		No	ClinGen Ensembl
CA379082047 rs1442256514	688	A>G		No	ClinGen TOPMed gnomAD
CA379082051 rs1290710172	689	P>H		No	ClinGen TOPMed
CA379082057 rs1431698170	690	S>N		No	ClinGen TOPMed
rs1211251786 CA379082054	690	S>R		No	ClinGen gnomAD
CA216152288 rs899133198	691	T>M		No	ClinGen TOPMed gnomAD
CA379082062 rs1590739462	691	T>P		No	ClinGen Ensembl
rs1184274059 CA379082069	692	P>S		No	ClinGen gnomAD
rs747339779 CA5811487	693	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1170142023 CA379082079	694	K>E		No	ClinGen gnomAD
rs1590739632 CA379082090	695	R>Q		No	ClinGen Ensembl
CA379082087 rs1373222593	695	R>W		No	ClinGen TOPMed gnomAD
rs1590739674 CA379082108	698	H>P		No	ClinGen Ensembl
CA5811488 rs771388319	699	G>C		No	ClinGen ExAC TOPMed gnomAD
CA379082113 rs771388319	699	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1428496176 CA379082123	700	P>L		No	ClinGen gnomAD
CA379082120 rs1360840330	700	P>S		No	ClinGen gnomAD
CA379082125 rs1201003390	701	L>F		No	ClinGen TOPMed gnomAD
CA379082124 rs1201003390	701	L>V		No	ClinGen TOPMed gnomAD
rs1366074989 CA379082130	702	G>S		No	ClinGen TOPMed gnomAD
CA379082139 rs1590739874	703	D>A		No	ClinGen Ensembl
CA5811490 rs574284797	704	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769900603 CA5811491	705	A>T		No	ClinGen ExAC TOPMed gnomAD
CA379082153 rs1281101056	705	A>V		No	ClinGen TOPMed gnomAD
CA379082155 rs1208691782	706	A>P		No	ClinGen TOPMed gnomAD
CA379082162 rs1189934116	707	A>S		No	ClinGen gnomAD
CA379082160 rs1189934116	707	A>T		No	ClinGen gnomAD
CA379082163 rs1474200116	707	A>V		No	ClinGen TOPMed gnomAD
CA379082168 rs1172965718	708	G>D		No	ClinGen gnomAD
rs775490209 CA5811492	708	G>R		No	ClinGen ExAC TOPMed gnomAD
CA379082185 rs1376386174	711	P>S		No	ClinGen TOPMed
rs763166221 CA5811494 CA379082189	712	G>R		No	ClinGen ExAC TOPMed gnomAD
CA379082194 rs1389270710	713	G>R		No	ClinGen gnomAD
CA216152333 rs538402952	715	A>T		No	ClinGen 1000Genomes TOPMed gnomAD
rs764259788 CA5811495	716	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1330758848 CA379082233	718	P>L		No	ClinGen TOPMed gnomAD
CA5811496 rs556602754	719	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs556602754 CA5811497	719	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1189547713 CA379082234	719	T>P		No	ClinGen TOPMed
CA379082237 rs556602754	719	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1189547713 CA379082236	719	T>S		No	ClinGen TOPMed
CA379082252 rs1276794901	722	D>Y		No	ClinGen gnomAD
rs980653723 CA216152363	723	T>M		No	ClinGen TOPMed gnomAD
CA5811498 rs767396030	724	A>D		No	ClinGen ExAC gnomAD
CA379082267 rs1269393025	724	A>S		No	ClinGen gnomAD
rs1205307398 CA379082290	727	G>V		No	ClinGen TOPMed
rs575648032 CA5811501	728	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA216152389 rs957687676	728	P>S		No	ClinGen TOPMed gnomAD
rs755637455 CA5811502	729	P>H		No	ClinGen ExAC TOPMed gnomAD
CA379082301 rs755637455	729	P>L		No	ClinGen ExAC TOPMed gnomAD
rs4963048 CA5811504	730	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA379082302 rs4963048	730	T>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA379082303 rs4963048	730	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA379082307 rs1471521254	731	A>T		No	ClinGen gnomAD
rs1412632010 CA379082315	732	R>C		No	ClinGen TOPMed gnomAD
rs778682975 CA5811506	732	R>H		No	ClinGen ExAC TOPMed gnomAD
CA379082316 rs778682975	732	R>P		No	ClinGen ExAC TOPMed gnomAD
CA379082320 rs1390155185	733	R>C		No	ClinGen TOPMed gnomAD
rs1387401134 CA379082321	733	R>H		No	ClinGen TOPMed gnomAD
rs1390155185 CA379082318	733	R>S		No	ClinGen TOPMed gnomAD
CA379082327 rs1590741019	734	E>A		No	ClinGen Ensembl
CA5811508 rs757632813	734	E>D		No	ClinGen ExAC gnomAD
CA379082324 rs1325839277	734	E>K		No	ClinGen TOPMed gnomAD
rs1325839277 CA379082325	734	E>Q		No	ClinGen TOPMed gnomAD
rs1409603783 CA379082336	735	Q>H		No	ClinGen gnomAD
CA5811509 rs781603169	735	Q>L		No	ClinGen ExAC
rs781603169 CA379082334	735	Q>P		No	ClinGen ExAC
CA379082338 rs1289312698	736	P>A		No	ClinGen gnomAD
rs372256031 CA379082341	736	P>H		No	ClinGen TOPMed gnomAD
rs372256031 CA216152466	736	P>L		No	ClinGen TOPMed gnomAD

No associated diseases with Q8IWQ3

3 regional properties for Q8IWQ3

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	19 - 270	IPR000719
active_site	Serine/threonine-protein kinase, active site	137 - 149	IPR008271
binding_site	Protein kinase, ATP binding site	25 - 48	IPR017441

Functions

		Description
EC Number	2.7.11.1	Protein-serine/threonine kinases
Subcellular Localization	Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Cytoplasm, perinuclear region Endoplasmic reticulum	Detected at centrosomes during mitosis Localizes to the endoplasmic reticulum in response to stress caused by tunicamycin
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
centrosome	A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
distal axon	That part of an axon close to and including the growth cone or the axon terminus.
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.

9 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATPase binding	Binding to an ATPase, any enzyme that catalyzes the hydrolysis of ATP.
ATPase regulator activity	Binds to and modulates the activity of an ATP hydrolysis activity.
magnesium ion binding	Binding to a magnesium (Mg) ion.
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 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.
tau protein binding	Binding to tau protein. tau is a microtubule-associated protein, implicated in Alzheimer's disease, Down Syndrome and ALS.
tau-protein kinase activity	Catalysis of the reaction: ATP + tau-protein = ADP + O-phospho-tau-protein.

20 GO annotations of biological process

Name	Definition
actin cytoskeleton reorganization	A process that is carried out at the cellular level which results in dynamic structural changes to the arrangement of constituent parts of cytoskeletal structures comprising actin filaments and their associated proteins.
axonogenesis	De novo generation of a long process of a neuron, including the terminal branched region. Refers to the morphogenesis or creation of shape or form of the developing axon, which carries efferent (outgoing) action potentials from the cell body towards target cells.
cell division	The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells.
cellular response to glucose starvation	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 deprivation of glucose.
ERAD pathway	The protein catabolic pathway which targets endoplasmic reticulum (ER)-resident proteins for degradation by the cytoplasmic proteasome. It begins with recognition of the ER-resident protein, includes retrotranslocation (dislocation) of the protein from the ER to the cytosol, protein modifications necessary for correct substrate transfer (e.g. ubiquitination), transport of the protein to the proteasome, and ends with degradation of the protein by the cytoplasmic proteasome.
establishment of cell polarity	The specification and formation of anisotropic intracellular organization or cell growth patterns.
exocytosis	A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell.
G2/M transition of mitotic cell cycle	The mitotic cell cycle transition by which a cell in G2 commits to M phase. The process begins when the kinase activity of M cyclin/CDK complex reaches a threshold high enough for the cell cycle to proceed. This is accomplished by activating a positive feedback loop that results in the accumulation of unphosphorylated and active M cyclin/CDK complex.
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.
intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced in response to a stimulus indicating endoplasmic reticulum (ER) stress, and ends when the execution phase of apoptosis is triggered. ER stress usually results from the accumulation of unfolded or misfolded proteins in the ER lumen.
microtubule cytoskeleton organization involved in establishment of planar polarity	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins and contributes to the establishment of planar polarity.
neuron differentiation	The process in which a relatively unspecialized cell acquires specialized features of a neuron.
peptidyl-serine phosphorylation	The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine.
protein phosphorylation	The process of introducing a phosphate group on to a protein.
regulation of ATP-dependent activity	Any process that modulates the rate of an ATP-dependent activity.
regulation of axonogenesis	Any process that modulates the frequency, rate or extent of axonogenesis, the generation of an axon, the long process of a neuron.
regulation of insulin secretion involved in cellular response to glucose stimulus	Any process that modulates the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose.
regulation of neuron projection development	Any process that modulates the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).
regulation of retrograde protein transport, ER to cytosol	Any process that modulates the frequency, rate or extent of retrograde protein transport, ER to cytosol.
regulation of synaptic vesicle clustering	Any process that modulates the frequency, rate or extent of synaptic vesicle clustering.

15 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O14757	CHEK1	Serine/threonine-protein kinase Chk1	Homo sapiens (Human)	EV
Q8TDC3	BRSK1	Serine/threonine-protein kinase BRSK1	Homo sapiens (Human)	SS
Q14680	MELK	Maternal embryonic leucine zipper kinase	Homo sapiens (Human)	EV
P57059	SIK1	Serine/threonine-protein kinase SIK1	Homo sapiens (Human)	PR
Q9NRH2	SNRK	SNF-related serine/threonine-protein kinase	Homo sapiens (Human)	SS
Q9BXA7	TSSK1B	Testis-specific serine/threonine-protein kinase 1	Homo sapiens (Human)	PR
O60285	NUAK1	NUAK family SNF1-like kinase 1	Homo sapiens (Human)	PR
Q13131	PRKAA1	5'-AMP-activated protein kinase catalytic subunit alpha-1	Homo sapiens (Human)	EV
P54646	PRKAA2	5'-AMP-activated protein kinase catalytic subunit alpha-2	Homo sapiens (Human)	EV
Q5RJI5	Brsk1	Serine/threonine-protein kinase BRSK1	Mus musculus (Mouse)	EV
Q69Z98	Brsk2	Serine/threonine-protein kinase BRSK2	Mus musculus (Mouse)	EV
B2DD29	Brsk1	Serine/threonine-protein kinase BRSK1	Rattus norvegicus (Rat)	SS
D3ZML2	Brsk2	Serine/threonine-protein kinase BRSK2	Rattus norvegicus (Rat)	SS
Q5QNM6	CIPK13	Putative CBL-interacting protein kinase 13	Oryza sativa subsp japonica (Rice)	PR
Q19469	sad-1	Serine/threonine kinase SAD-1	Caenorhabditis elegans	SS

10	20	30	40	50	60
MTSTGKDGGA	QHAQYVGPYR	LEKTLGKGQT	GLVKLGVHCV	TCQKVAIKIV	NREKLSESVL
70	80	90	100	110	120
MKVEREIAIL	KLIEHPHVLK	LHDVYENKKY	LYLVLEHVSG	GELFDYLVKK	GRLTPKEARK
130	140	150	160	170	180
FFRQIISALD	FCHSHSICHR	DLKPENLLLD	EKNNIRIADF	GMASLQVGDS	LLETSCGSPH
190	200	210	220	230	240
YACPEVIRGE	KYDGRKADVW	SCGVILFALL	VGALPFDDDN	LRQLLEKVKR	GVFHMPHFIP
250	260	270	280	290	300
PDCQSLLRGM	IEVDAARRLT	LEHIQKHIWY	IGGKNEPEPE	QPIPRKVQIR	SLPSLEDIDP
310	320	330	340	350	360
DVLDSMHSLG	CFRDRNKLLQ	DLLSEEENQE	KMIYFLLLDR	KERYPSQEDE	DLPPRNEIDP
370	380	390	400	410	420
PRKRVDSPML	NRHGKRRPER	KSMEVLSVTD	GGSPVPARRA	IEMAQHGQRS	RSISGASSGL
430	440	450	460	470	480
STSPLSSPRV	TPHPSPRGSP	LPTPKGTPVH	TPKESPAGTP	NPTPPSSPSV	GGVPWRARLN
490	500	510	520	530	540
SIKNSFLGSP	RFHRRKLQVP	TPEEMSNLTP	ESSPELAKKS	WFGNFISLEK	EEQIFVVIKD
550	560	570	580	590	600
KPLSSIKADI	VHAFLSIPSL	SHSVISQTSF	RAEYKATGGP	AVFQKPVKFQ	VDITYTEGGE
610	620	630	640	650	660
AQKENGIYSV	TFTLLSGPSR	RFKRVVETIQ	AQLLSTHDPP	AAQHLSDTTN	CMEMMTGRLS
670	680	690	700	710	720
KCGSPLSNFF	DVIKQLFSDE	KNGQAAQAPS	TPAKRSAHGP	LGDSAAAGPG	PGGDAEYPTG
730
KDTAKMGPPT	ARREQP