CleftGeneDB-Search

Gene: NUAK1

Basic information

Tag	Content
Uniprot ID	O60285; A7MD39; Q96KA8;
Entrez ID	9891
Genbank protein ID	EAW97768.1; BAA25463.2; AAI52463.1; BAB55026.1; BAF82681.1;
Genbank nucleotide ID	NM_014840.2
Ensembl protein ID	ENSP00000261402
Ensembl nucleotide ID	ENSG00000074590
Gene name	NUAK family SNF1-like kinase 1
Gene symbol	NUAK1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Serine/threonine-protein kinase involved in various processes such as cell adhesion, regulation of cell ploidy and senescence, cell proliferation and tumor progression. Phosphorylates ATM, CASP6, LATS1, PPP1R12A and p53/TP53. Acts as a regulator of cellular senescence and cellular ploidy by mediating phosphorylation of 'Ser-464' of LATS1, thereby controlling its stability. Controls cell adhesion by regulating activity of the myosin protein phosphatase 1 (PP1) complex. Acts by mediating phosphorylation of PPP1R12A subunit of myosin PP1: phosphorylated PPP1R12A then interacts with 14-3-3, leading to reduced dephosphorylation of myosin MLC2 by myosin PP1. May be involved in DNA damage response: phosphorylates p53/TP53 at 'Ser-15' and 'Ser-392' and is recruited to the CDKN1A/WAF1 promoter to participate in transcription activation by p53/TP53. May also act as a tumor malignancy-associated factor by promoting tumor invasion and metastasis under regulation and phosphorylation by AKT1. Suppresses Fas-induced apoptosis by mediating phosphorylation of CASP6, thereby suppressing the activation of the caspase and the subsequent cleavage of CFLAR. Regulates UV radiation-induced DNA damage response mediated by CDKN1A. In association with STK11, phosphorylates CDKN1A in response to UV radiation and contributes to its degradation which is necessary for optimal DNA repair (PubMed:25329316).
Sequence	MEGAAAPVAG DRPDLGLGAP GSPREAVAGA TAALEPRKPH GVKRHHHKHN LKHRYELQET 60 LGKGTYGKVK RATERFSGRV VAIKSIRKDK IKDEQDMVHI RREIEIMSSL NHPHIISIYE 120 VFENKDKIVI IMEYASKGEL YDYISERRRL SERETRHFFR QIVSAVHYCH KNGVVHRDLK 180 LENILLDDNC NIKIADFGLS NLYQKDKFLQ TFCGSPLYAS PEIVNGRPYR GPEVDSWALG 240 VLLYTLVYGT MPFDGFDHKN LIRQISSGEY REPTQPSDAR GLIRWMLMVN PDRRATIEDI 300 ANHWWVNWGY KSSVCDCDAL HDSESPLLAR IIDWHHRSTG LQADTEAKMK GLAKPTTSEV 360 MLERQRSLKK SKKENDFAQS GQDAVPESPS KLSSKRPKGI LKKRSNSEHR SHSTGFIEGV 420 VGPALPSTFK MEQDLCRTGV LLPSSPEAEV PGKLSPKQSA TMPKKGILKK TQQRESGYYS 480 SPERSESSEL LDSNDVMGSS IPSPSPPDPA RVTSHSLSCR RKGILKHSSK YSAGTMDPAL 540 VSPEMPTLES LSEPGVPAEG LSRSYSRPSS VISDDSVLSS DSFDLLDLQE NRPARQRIRS 600 CVSAENFLQI QDFEGLQNRP RPQYLKRYRN RLADSSFSLL TDMDDVTQVY KQALEICSKL 660 N 661

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	NUAK1	519892	E1B9B6		Bos taurus	Prediction	More>>
1:1 ortholog	NUAK1	481296	J9P812		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	NUAK1	102190764	A0A452G5R0		Capra hircus	Prediction	More>>
1:1 ortholog	NUAK1	9891	O60285		Homo sapiens	Prediction	More>>
1:1 ortholog	Nuak1	77976	Q641K5	CPO	Mus musculus	Publication	More>>
1:1 ortholog	NUAK1	742637	H2Q6S1		Pan troglodytes	Prediction	More>>
1:1 ortholog	NUAK1	100523669	A0A287AGV4		Sus scrofa	Prediction	More>>
1:1 ortholog	Nuak1	299694	D3ZQN8		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs749623403	p.Glu2Lys	missense variant	-	NC_000012.12:g.106138650C>T	ExAC,gnomAD
rs1157606361	p.Gly3Glu	missense variant	-	NC_000012.12:g.106138646C>T	gnomAD
rs56402800	p.Gly3Arg	missense variant	-	NC_000012.12:g.106138647C>T	TOPMed,gnomAD
rs56402800	p.Gly3Arg	missense variant	-	NC_000012.12:g.106138647C>G	TOPMed,gnomAD
rs1418981735	p.Ala4Ser	missense variant	-	NC_000012.12:g.106138644C>A	gnomAD
rs756547098	p.Ala5Gly	missense variant	-	NC_000012.12:g.106138640G>C	ExAC,TOPMed,gnomAD
rs756547098	p.Ala5Asp	missense variant	-	NC_000012.12:g.106138640G>T	ExAC,TOPMed,gnomAD
rs752828561	p.Ala6Thr	missense variant	-	NC_000012.12:g.106138638C>T	ExAC,gnomAD
rs568710120	p.Val8Met	missense variant	-	NC_000012.12:g.106138632C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1312786713	p.Ala9Val	missense variant	-	NC_000012.12:g.106138628G>A	TOPMed
NCI-TCGA novel	p.Ala9Glu	missense variant	-	NC_000012.12:g.106138628G>T	NCI-TCGA
rs755035607	p.Gly10Arg	missense variant	-	NC_000012.12:g.106138626C>T	ExAC,TOPMed,gnomAD
rs201298691	p.Asp11Gly	missense variant	-	NC_000012.12:g.106138622T>C	ExAC,TOPMed,gnomAD
rs765123265	p.Arg12His	missense variant	-	NC_000012.12:g.106138619C>T	ExAC,TOPMed,gnomAD
rs1359838131	p.Pro13Ala	missense variant	-	NC_000012.12:g.106138617G>C	TOPMed,gnomAD
rs1359838131	p.Pro13Ser	missense variant	-	NC_000012.12:g.106138617G>A	TOPMed,gnomAD
rs1259017689	p.Asp14Asn	missense variant	-	NC_000012.12:g.106138614C>T	gnomAD
rs1236865022	p.Leu15Met	missense variant	-	NC_000012.12:g.106138611A>T	TOPMed,gnomAD
rs1301728043	p.Gly16Arg	missense variant	-	NC_000012.12:g.106138608C>G	TOPMed,gnomAD
rs1220685109	p.Leu17Met	missense variant	-	NC_000012.12:g.106138605G>T	gnomAD
rs375088646	p.Ala19Thr	missense variant	-	NC_000012.12:g.106138599C>T	ESP,ExAC,gnomAD
rs1390261166	p.Pro20Leu	missense variant	-	NC_000012.12:g.106138595G>A	TOPMed,gnomAD
rs940897851	p.Pro20Ser	missense variant	-	NC_000012.12:g.106138596G>A	TOPMed
rs760586653	p.Gly21Asp	missense variant	-	NC_000012.12:g.106138592C>T	ExAC,TOPMed,gnomAD
rs760586653	p.Gly21Val	missense variant	-	NC_000012.12:g.106138592C>A	ExAC,TOPMed,gnomAD
rs369767838	p.Ser22Cys	missense variant	-	NC_000012.12:g.106138589G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369767838	p.Ser22Phe	missense variant	-	NC_000012.12:g.106138589G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1378024955	p.Pro23Thr	missense variant	-	NC_000012.12:g.106138587G>T	TOPMed
rs774028905	p.Pro23Leu	missense variant	-	NC_000012.12:g.106138586G>A	ExAC,gnomAD
rs1378024955	p.Pro23Ser	missense variant	-	NC_000012.12:g.106138587G>A	TOPMed
COSM934360	p.Glu25Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.106138581C>A	NCI-TCGA Cosmic
rs1478048947	p.Glu25Gly	missense variant	-	NC_000012.12:g.106138580T>C	TOPMed,gnomAD
rs1451544030	p.Glu25Lys	missense variant	-	NC_000012.12:g.106138581C>T	gnomAD
rs1318511676	p.Val27Gly	missense variant	-	NC_000012.12:g.106138574A>C	TOPMed
rs1204567033	p.Ala28Thr	missense variant	-	NC_000012.12:g.106138572C>T	gnomAD
rs1256468216	p.Gly29Arg	missense variant	-	NC_000012.12:g.106138569C>T	gnomAD
NCI-TCGA novel	p.Ala30ArgPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.106138566C>-	NCI-TCGA
rs770046602	p.Ala32Val	missense variant	-	NC_000012.12:g.106138559G>A	ExAC,gnomAD
rs748601284	p.Ala33Gly	missense variant	-	NC_000012.12:g.106138556G>C	ExAC,gnomAD
rs751592845	p.Leu34Arg	missense variant	-	NC_000012.12:g.106138553A>C	NCI-TCGA,NCI-TCGA Cosmic
rs751592845	p.Leu34Pro	missense variant	-	NC_000012.12:g.106138553A>G	ExAC,gnomAD
rs751592845	p.Leu34Arg	missense variant	-	NC_000012.12:g.106138553A>C	ExAC,gnomAD
rs1210597698	p.Glu35Asp	missense variant	-	NC_000012.12:g.106138549C>A	TOPMed
rs1403565470	p.Pro36Arg	missense variant	-	NC_000012.12:g.106138547G>C	gnomAD
rs1375285471	p.Lys38Asn	missense variant	-	NC_000012.12:g.106138540C>A	TOPMed,gnomAD
rs1169618816	p.Pro39Leu	missense variant	-	NC_000012.12:g.106138538G>A	NCI-TCGA Cosmic
rs1169618816	p.Pro39Gln	missense variant	-	NC_000012.12:g.106138538G>T	TOPMed,gnomAD
rs1169618816	p.Pro39Leu	missense variant	-	NC_000012.12:g.106138538G>A	TOPMed,gnomAD
rs1483925718	p.His40Gln	missense variant	-	NC_000012.12:g.106138534G>T	TOPMed,gnomAD
rs1371496712	p.Gly41Trp	missense variant	-	NC_000012.12:g.106138533C>A	gnomAD
rs1192593863	p.Val42Met	missense variant	-	NC_000012.12:g.106138530C>T	gnomAD
rs1427869585	p.Arg44Pro	missense variant	-	NC_000012.12:g.106138523C>G	TOPMed
rs753715382	p.Lys48Asn	missense variant	-	NC_000012.12:g.106138510C>A	ExAC,gnomAD
rs764152329	p.Asn50Ser	missense variant	-	NC_000012.12:g.106138505T>C	ExAC,TOPMed,gnomAD
rs764152329	p.Asn50Ile	missense variant	-	NC_000012.12:g.106138505T>A	ExAC,TOPMed,gnomAD
rs752539069	p.Arg54His	missense variant	-	NC_000012.12:g.106138493C>T	ExAC,gnomAD
rs752539069	p.Arg54His	missense variant	-	NC_000012.12:g.106138493C>T	NCI-TCGA,NCI-TCGA Cosmic
rs767237376	p.Tyr55Ter	stop gained	-	NC_000012.12:g.106138489G>T	ExAC,gnomAD
rs759284474	p.Glu56Lys	missense variant	-	NC_000012.12:g.106138488C>T	ExAC,gnomAD
rs774196515	p.Gln58Arg	missense variant	-	NC_000012.12:g.106138481T>C	ExAC,gnomAD
COSM4038248	p.Glu59Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.106138479C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu59Asp	missense variant	-	NC_000012.12:g.106138477C>A	NCI-TCGA
rs1226096586	p.Leu61Val	missense variant	-	NC_000012.12:g.106138473G>C	gnomAD
rs1294580266	p.Thr65Ser	missense variant	-	NC_000012.12:g.106138461T>A	gnomAD
NCI-TCGA novel	p.Gly67Asp	missense variant	-	NC_000012.12:g.106138454C>T	NCI-TCGA
rs770530605	p.Lys70Arg	missense variant	-	NC_000012.12:g.106138445T>C	ExAC,TOPMed,gnomAD
rs957267584	p.Arg71Gln	missense variant	-	NC_000012.12:g.106138442C>T	TOPMed,gnomAD
rs1398854614	p.Glu74Asp	missense variant	-	NC_000012.12:g.106138432C>G	TOPMed
NCI-TCGA novel	p.Arg75Met	missense variant	-	NC_000012.12:g.106138430C>A	NCI-TCGA
NCI-TCGA novel	p.Ser77Phe	missense variant	-	NC_000012.12:g.106138424G>A	NCI-TCGA
rs773578237	p.Gly78Asp	missense variant	-	NC_000012.12:g.106138421C>T	ExAC,gnomAD
rs762587360	p.Gly78Ser	missense variant	-	NC_000012.12:g.106138422C>T	ExAC,TOPMed,gnomAD
rs770346153	p.Arg79Gln	missense variant	-	NC_000012.12:g.106138418C>T	ExAC,gnomAD
rs1370327590	p.Arg79Gly	missense variant	-	NC_000012.12:g.106138419G>C	gnomAD
rs772812830	p.Val81Phe	missense variant	-	NC_000012.12:g.106106525C>A	ExAC,gnomAD
rs1476890398	p.Val81Ala	missense variant	-	NC_000012.12:g.106106524A>G	TOPMed
NCI-TCGA novel	p.Lys84Thr	missense variant	-	NC_000012.12:g.106106515T>G	NCI-TCGA
rs765614152	p.Ile86Val	missense variant	-	NC_000012.12:g.106106510T>C	ExAC,TOPMed,gnomAD
rs769008203	p.Arg87His	missense variant	-	NC_000012.12:g.106106506C>T	ExAC,TOPMed,gnomAD
rs188490096	p.Arg87Gly	missense variant	-	NC_000012.12:g.106106507G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs188490096	p.Arg87Cys	missense variant	-	NC_000012.12:g.106106507G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg87Pro	missense variant	-	NC_000012.12:g.106106506C>G	NCI-TCGA
rs775635190	p.Asp89Gly	missense variant	-	NC_000012.12:g.106106500T>C	ExAC,gnomAD
rs775635190	p.Asp89Val	missense variant	-	NC_000012.12:g.106106500T>A	ExAC,gnomAD
rs772345606	p.Asp89Glu	missense variant	-	NC_000012.12:g.106106499G>C	ExAC,gnomAD
rs772345606	p.Asp89Glu	missense variant	-	NC_000012.12:g.106106499G>T	ExAC,gnomAD
rs944516685	p.Ile91Thr	missense variant	-	NC_000012.12:g.106106494A>G	TOPMed
rs1362871677	p.Lys92Gln	missense variant	-	NC_000012.12:g.106106492T>G	TOPMed
rs907646372	p.Asp93Gly	missense variant	-	NC_000012.12:g.106106488T>C	TOPMed
COSM415647	p.Met97Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106106475C>A	NCI-TCGA Cosmic
rs147433989	p.Met97Val	missense variant	-	NC_000012.12:g.106106477T>C	ESP,ExAC,TOPMed,gnomAD
rs1279338206	p.His99Tyr	missense variant	-	NC_000012.12:g.106106471G>A	gnomAD
rs748063288	p.Arg101Ter	stop gained	-	NC_000012.12:g.106106465T>A	ExAC,gnomAD
rs781345878	p.Arg102Gln	missense variant	-	NC_000012.12:g.106106461C>T	ExAC,TOPMed,gnomAD
rs1440404833	p.Glu103Gln	missense variant	-	NC_000012.12:g.106106459C>G	gnomAD
NCI-TCGA novel	p.Glu103Asp	missense variant	-	NC_000012.12:g.106106457C>G	NCI-TCGA
rs1224777821	p.Ile104Phe	missense variant	-	NC_000012.12:g.106106456T>A	TOPMed
rs1389548100	p.Ile106Val	missense variant	-	NC_000012.12:g.106106450T>C	gnomAD
rs1345074497	p.Leu110Val	missense variant	-	NC_000012.12:g.106106438G>C	TOPMed
rs1278047844	p.Asn111Lys	missense variant	-	NC_000012.12:g.106106433G>C	TOPMed
rs1218595937	p.Asn111Ser	missense variant	-	NC_000012.12:g.106106434T>C	TOPMed
rs1402379967	p.His112Arg	missense variant	-	NC_000012.12:g.106106431T>C	gnomAD
NCI-TCGA novel	p.Ile115Val	missense variant	-	NC_000012.12:g.106106423T>C	NCI-TCGA
rs1382621935	p.Tyr119Cys	missense variant	-	NC_000012.12:g.106106410T>C	gnomAD
NCI-TCGA novel	p.Glu120Ter	stop gained	-	NC_000012.12:g.106106408C>A	NCI-TCGA
rs1157810013	p.Val121Met	missense variant	-	NC_000012.12:g.106106405C>T	gnomAD
NCI-TCGA novel	p.Phe122Ter	stop gained	-	NC_000012.12:g.106086874_106086882TGTTCTCAA>-	NCI-TCGA
rs1188908140	p.Glu123Lys	missense variant	-	NC_000012.12:g.106086880C>T	gnomAD
rs1341114266	p.Asn124Lys	missense variant	-	NC_000012.12:g.106086875G>C	TOPMed
rs1486938928	p.Asp126His	missense variant	-	NC_000012.12:g.106086871C>G	gnomAD
rs1214778517	p.Asp126Gly	missense variant	-	NC_000012.12:g.106086870T>C	TOPMed
COSM934358	p.Lys127Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106086867T>G	NCI-TCGA Cosmic
rs1481807067	p.Ile128Val	missense variant	-	NC_000012.12:g.106086865T>C	TOPMed
NCI-TCGA novel	p.Ile128Thr	missense variant	-	NC_000012.12:g.106086864A>G	NCI-TCGA
rs1210541825	p.Met132Thr	missense variant	-	NC_000012.12:g.106086852A>G	gnomAD
rs557272627	p.Tyr134Cys	missense variant	-	NC_000012.12:g.106086846T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1213000118	p.Ala135Val	missense variant	-	NC_000012.12:g.106086843G>A	gnomAD
COSM934356	p.Ser136Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106086840C>T	NCI-TCGA Cosmic
rs1338881094	p.Ser136Arg	missense variant	-	NC_000012.12:g.106086839G>C	gnomAD
rs1284844232	p.Glu139Gly	missense variant	-	NC_000012.12:g.106086831T>C	gnomAD
rs753190492	p.Asp142Asn	missense variant	-	NC_000012.12:g.106086823C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp142Gly	missense variant	-	NC_000012.12:g.106086822T>C	NCI-TCGA
rs964345836	p.Ile144Val	missense variant	-	NC_000012.12:g.106086817T>C	TOPMed
NCI-TCGA novel	p.Ile144Thr	missense variant	-	NC_000012.12:g.106086816A>G	NCI-TCGA
rs1322837007	p.Glu146Lys	missense variant	-	NC_000012.12:g.106086811C>T	gnomAD
rs763058439	p.Arg147Gln	missense variant	-	NC_000012.12:g.106086807C>T	ExAC,gnomAD
rs771291112	p.Arg147Trp	missense variant	-	NC_000012.12:g.106086808G>A	ExAC,gnomAD
rs770050415	p.Arg148Pro	missense variant	-	NC_000012.12:g.106086804C>G	ExAC,gnomAD
rs773455181	p.Arg148Ter	stop gained	-	NC_000012.12:g.106086805G>A	ExAC,gnomAD
rs770050415	p.Arg148Gln	missense variant	-	NC_000012.12:g.106086804C>T	ExAC,gnomAD
rs779923959	p.Arg149Ser	missense variant	-	NC_000012.12:g.106086802G>T	ExAC,TOPMed,gnomAD
rs771887610	p.Arg149His	missense variant	-	NC_000012.12:g.106086801C>T	ExAC,TOPMed,gnomAD
rs779923959	p.Arg149Cys	missense variant	-	NC_000012.12:g.106086802G>A	ExAC,TOPMed,gnomAD
rs1037908398	p.Ser151Gly	missense variant	-	NC_000012.12:g.106086796T>C	gnomAD
rs1320753304	p.Glu152Asp	missense variant	-	NC_000012.12:g.106086791C>G	TOPMed
rs778565564	p.Arg153Met	missense variant	-	NC_000012.12:g.106086789C>A	ExAC,gnomAD
rs1008405329	p.Thr155Ile	missense variant	-	NC_000012.12:g.106086783G>A	TOPMed,gnomAD
rs1379241199	p.Arg156Gln	missense variant	-	NC_000012.12:g.106086780C>T	TOPMed,gnomAD
rs377356382	p.Arg160Gln	missense variant	-	NC_000012.12:g.106086768C>T	ExAC,gnomAD
rs752482605	p.Arg160Trp	missense variant	-	NC_000012.12:g.106086769G>A	TOPMed
rs267603280	p.Ile162Met	missense variant	-	NC_000012.12:g.106086761G>C	ExAC,TOPMed,gnomAD
rs139582229	p.Val163Ile	missense variant	-	NC_000012.12:g.106086760C>T	ESP,ExAC,TOPMed,gnomAD
rs755658642	p.His167Arg	missense variant	-	NC_000012.12:g.106086747T>C	ExAC,TOPMed,gnomAD
rs767962701	p.Tyr168Cys	missense variant	-	NC_000012.12:g.106086744T>C	ExAC,gnomAD
NCI-TCGA novel	p.Cys169Phe	missense variant	-	NC_000012.12:g.106086741C>A	NCI-TCGA
rs1289514577	p.Asn172Tyr	missense variant	-	NC_000012.12:g.106083929T>A	TOPMed
COSM6071112	p.Gly173Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106083926C>A	NCI-TCGA Cosmic
rs1011001756	p.Gly173Ser	missense variant	-	NC_000012.12:g.106083926C>T	TOPMed
rs765570986	p.Val174Met	missense variant	-	NC_000012.12:g.106083923C>T	ExAC,gnomAD
rs761888968	p.His176Arg	missense variant	-	NC_000012.12:g.106083916T>C	ExAC,gnomAD
rs1303995716	p.Arg177Gln	missense variant	-	NC_000012.12:g.106083913C>T	TOPMed
rs776610014	p.Arg177Trp	missense variant	-	NC_000012.12:g.106083914G>A	ExAC,gnomAD
NCI-TCGA novel	p.Lys180Ter	stop gained	-	NC_000012.12:g.106083905T>A	NCI-TCGA
COSM4393905	p.Glu182Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106083899C>T	NCI-TCGA Cosmic
rs1352780890	p.Glu182Asp	missense variant	-	NC_000012.12:g.106083897T>A	gnomAD
rs1324739837	p.Ile184Thr	missense variant	-	NC_000012.12:g.106083892A>G	TOPMed
COSM691459	p.Leu185Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106083889A>T	NCI-TCGA Cosmic
rs770705202	p.Asp187His	missense variant	-	NC_000012.12:g.106083884C>G	ExAC,gnomAD
rs770705202	p.Asp187Asn	missense variant	-	NC_000012.12:g.106083884C>T	ExAC,gnomAD
rs940668263	p.Asp188Asn	missense variant	-	NC_000012.12:g.106083881C>T	TOPMed
rs749134438	p.Asn189Ser	missense variant	-	NC_000012.12:g.106083877T>C	ExAC,gnomAD
rs534706842	p.Asn191Ser	missense variant	-	NC_000012.12:g.106083871T>C	1000Genomes
rs1364733630	p.Ile192Met	missense variant	-	NC_000012.12:g.106083867A>C	gnomAD
rs1196074651	p.Ile194Val	missense variant	-	NC_000012.12:g.106072843T>C	gnomAD
rs1180719772	p.Ala195Thr	missense variant	-	NC_000012.12:g.106072840C>T	TOPMed
NCI-TCGA novel	p.Gly198Val	missense variant	-	NC_000012.12:g.106072830C>A	NCI-TCGA
rs1217424346	p.Leu199Phe	missense variant	-	NC_000012.12:g.106072828G>A	gnomAD
COSM467715	p.Asn201Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106072822T>C	NCI-TCGA Cosmic
rs1388269375	p.Asn201Ser	missense variant	-	NC_000012.12:g.106072821T>C	TOPMed,gnomAD
rs1295696054	p.Leu202Arg	missense variant	-	NC_000012.12:g.106072818A>C	gnomAD
rs368073167	p.Gln204Glu	missense variant	-	NC_000012.12:g.106072813G>C	ESP,ExAC,TOPMed,gnomAD
rs545166073	p.Lys205Thr	missense variant	-	NC_000012.12:g.106072809T>G	1000Genomes
rs746190784	p.Asp206Gly	missense variant	-	NC_000012.12:g.106072806T>C	ExAC
COSM934348	p.Lys207Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106072803T>C	NCI-TCGA Cosmic
COSM934350	p.Lys207Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106072803T>G	NCI-TCGA Cosmic
COSM430226	p.Phe208Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106072800A>C	NCI-TCGA Cosmic
rs753998943	p.Gln210Lys	missense variant	-	NC_000012.12:g.106072795G>T	ExAC,TOPMed,gnomAD
rs753998943	p.Gln210Glu	missense variant	-	NC_000012.12:g.106072795G>C	ExAC,TOPMed,gnomAD
rs1394535554	p.Thr211Arg	missense variant	-	NC_000012.12:g.106072791G>C	gnomAD
NCI-TCGA novel	p.Thr211Met	missense variant	-	NC_000012.12:g.106072791G>A	NCI-TCGA
NCI-TCGA novel	p.Cys213ValPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.106072786A>-	NCI-TCGA
NCI-TCGA novel	p.Pro216Ser	missense variant	-	NC_000012.12:g.106072777G>A	NCI-TCGA
rs1458857778	p.Ala219Val	missense variant	-	NC_000012.12:g.106072767G>A	TOPMed
COSM269747	p.Pro221Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106072762G>A	NCI-TCGA Cosmic
rs752774711	p.Ile223Val	missense variant	-	NC_000012.12:g.106072756T>C	ExAC,gnomAD
rs1488532321	p.Asn225Ser	missense variant	-	NC_000012.12:g.106072749T>C	TOPMed
rs1182176128	p.Arg227Thr	missense variant	-	NC_000012.12:g.106072743C>G	gnomAD
rs764908737	p.Arg230Gln	missense variant	-	NC_000012.12:g.106072734C>T	ExAC,gnomAD
NCI-TCGA novel	p.Trp237Leu	missense variant	-	NC_000012.12:g.106070896C>A	NCI-TCGA
rs777260764	p.Leu239Met	missense variant	-	NC_000012.12:g.106070891G>T	ExAC,TOPMed,gnomAD
COSM1358411	p.Val241Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106070884A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Val241GlyPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.106070886_106070887insGCCCT	NCI-TCGA
COSM3810860	p.Leu246Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106070870G>C	NCI-TCGA Cosmic
rs759171465	p.Val247Ile	missense variant	-	NC_000012.12:g.106070867C>T	ExAC,gnomAD
rs1344362979	p.Gly249Glu	missense variant	-	NC_000012.12:g.106070860C>T	TOPMed
rs1375549777	p.Met251Ile	missense variant	-	NC_000012.12:g.106070853C>A	gnomAD
rs1177821671	p.Pro252Ser	missense variant	-	NC_000012.12:g.106070852G>A	gnomAD
rs749572189	p.Asp254Asn	missense variant	-	NC_000012.12:g.106070846C>T	ExAC,gnomAD
rs773648313	p.Gly255Ser	missense variant	-	NC_000012.12:g.106070843C>T	ExAC,TOPMed,gnomAD
rs55667101	p.Phe256Leu	missense variant	-	NC_000012.12:g.106070838G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1440281975	p.Phe256Cys	missense variant	-	NC_000012.12:g.106070839A>C	TOPMed
COSM934344	p.Asp257Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106070836T>G	NCI-TCGA Cosmic
rs748336286	p.Asp257Asn	missense variant	-	NC_000012.12:g.106070837C>T	ExAC,gnomAD
rs748336286	p.Asp257Tyr	missense variant	-	NC_000012.12:g.106070837C>A	ExAC,gnomAD
rs981002959	p.Asp257Gly	missense variant	-	NC_000012.12:g.106070836T>C	TOPMed
rs141538558	p.His258Asn	missense variant	-	NC_000012.12:g.106070834G>T	ESP,ExAC,TOPMed,gnomAD
rs747119666	p.Lys259Glu	missense variant	-	NC_000012.12:g.106070831T>C	ExAC,gnomAD
rs376406542	p.Asn260Lys	missense variant	-	NC_000012.12:g.106070826G>T	ESP,ExAC,TOPMed,gnomAD
rs1315538458	p.Leu261Phe	missense variant	-	NC_000012.12:g.106070825G>A	TOPMed
rs757243977	p.Arg263Trp	missense variant	-	NC_000012.12:g.106070819G>A	ExAC,TOPMed,gnomAD
rs753772566	p.Arg263Gln	missense variant	-	NC_000012.12:g.106070818C>T	ExAC,TOPMed,gnomAD
COSM4038246	p.Ser266Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106070809C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser266Arg	missense variant	-	NC_000012.12:g.106070808G>T	NCI-TCGA
rs756042950	p.Gly268Ter	stop gained	-	NC_000012.12:g.106070804C>A	ExAC,gnomAD
rs752380797	p.Gly268Val	missense variant	-	NC_000012.12:g.106070803C>A	ExAC,gnomAD
rs759046362	p.Arg271Gln	missense variant	-	NC_000012.12:g.106070794C>T	ExAC,TOPMed,gnomAD
rs370122763	p.Arg271Trp	missense variant	-	NC_000012.12:g.106070795G>A	ESP,ExAC,TOPMed,gnomAD
rs1210218636	p.Thr274Ala	missense variant	-	NC_000012.12:g.106070786T>C	gnomAD
rs1271998730	p.Thr274Ile	missense variant	-	NC_000012.12:g.106070785G>A	gnomAD
rs766746646	p.Gln275Pro	missense variant	-	NC_000012.12:g.106070782T>G	ExAC,TOPMed,gnomAD
rs1338264556	p.Asp278Tyr	missense variant	-	NC_000012.12:g.106070774C>A	gnomAD
rs960012986	p.Arg280Gln	missense variant	-	NC_000012.12:g.106067949C>T	TOPMed,gnomAD
rs1324051870	p.Arg280Ter	stop gained	-	NC_000012.12:g.106067950G>A	TOPMed
rs765739015	p.Gly281Val	missense variant	-	NC_000012.12:g.106067946C>A	ExAC,gnomAD
rs765739015	p.Gly281Glu	missense variant	-	NC_000012.12:g.106067946C>T	ExAC,gnomAD
rs1273871319	p.Arg284Gln	missense variant	-	NC_000012.12:g.106067937C>T	TOPMed,gnomAD
rs1457413285	p.Arg284Trp	missense variant	-	NC_000012.12:g.106067938G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Met286Val	missense variant	-	NC_000012.12:g.106067932T>C	NCI-TCGA
NCI-TCGA novel	p.Leu287Met	missense variant	-	NC_000012.12:g.106067929G>T	NCI-TCGA
rs1336771458	p.Met288Arg	missense variant	-	NC_000012.12:g.106067925A>C	gnomAD
rs546010292	p.Asp292Asn	missense variant	-	NC_000012.12:g.106067914C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs775646302	p.Asp292Gly	missense variant	-	NC_000012.12:g.106067913T>C	ExAC,TOPMed,gnomAD
rs772183684	p.Arg293Cys	missense variant	-	NC_000012.12:g.106067911G>A	ExAC,TOPMed,gnomAD
rs201088258	p.Arg293His	missense variant	-	NC_000012.12:g.106067910C>T	TOPMed,gnomAD
rs375824826	p.Arg294Trp	missense variant	-	NC_000012.12:g.106067908G>A	ESP,ExAC,TOPMed,gnomAD
rs769881661	p.Ile297Val	missense variant	-	NC_000012.12:g.106067899T>C	ExAC,gnomAD
rs747899336	p.Ile297Thr	missense variant	-	NC_000012.12:g.106067898A>G	ExAC,gnomAD
rs1164558207	p.Ile300Val	missense variant	-	NC_000012.12:g.106067890T>C	gnomAD
rs781111029	p.Asn302His	missense variant	-	NC_000012.12:g.106067884T>G	ExAC,gnomAD
rs751220510	p.Asn302Lys	missense variant	-	NC_000012.12:g.106067882G>T	ExAC,TOPMed,gnomAD
rs754767637	p.Asn302Ser	missense variant	-	NC_000012.12:g.106067883T>C	ExAC,gnomAD
rs1187889590	p.His303Tyr	missense variant	-	NC_000012.12:g.106067881G>A	TOPMed,gnomAD
NCI-TCGA novel	p.His303Asn	missense variant	-	NC_000012.12:g.106067881G>T	NCI-TCGA
COSM3383993	p.Trp305Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.106067874C>T	NCI-TCGA Cosmic
rs1439310511	p.Asn307Ser	missense variant	-	NC_000012.12:g.106067868T>C	TOPMed,gnomAD
rs55850452	p.Asn307Lys	missense variant	-	NC_000012.12:g.106067867G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs757859531	p.Gly309Asp	missense variant	-	NC_000012.12:g.106067862C>T	ExAC,gnomAD
rs749967228	p.Tyr310Cys	missense variant	-	NC_000012.12:g.106067859T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser312Asn	missense variant	-	NC_000012.12:g.106067853C>T	NCI-TCGA
rs1458958342	p.Val314Met	missense variant	-	NC_000012.12:g.106067848C>T	TOPMed
rs754386273	p.Asp316Val	missense variant	-	NC_000012.12:g.106067841T>A	ExAC,gnomAD
COSM430224	p.Cys317Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067839A>T	NCI-TCGA Cosmic
rs879080527	p.Asp318Val	missense variant	-	NC_000012.12:g.106067835T>A	TOPMed
rs764516584	p.Ala319Val	missense variant	-	NC_000012.12:g.106067832G>A	ExAC,gnomAD
rs761006444	p.Leu320Phe	missense variant	-	NC_000012.12:g.106067830G>A	ExAC
rs905955696	p.Asp322Val	missense variant	-	NC_000012.12:g.106067823T>A	gnomAD
rs775727576	p.Ser323Thr	missense variant	-	NC_000012.12:g.106067821A>T	ExAC,gnomAD
rs772185238	p.Ser325Tyr	missense variant	-	NC_000012.12:g.106067814G>T	ExAC,gnomAD
rs1364841523	p.Pro326Gln	missense variant	-	NC_000012.12:g.106067811G>T	TOPMed,gnomAD
rs1364841523	p.Pro326Leu	missense variant	-	NC_000012.12:g.106067811G>A	TOPMed,gnomAD
rs890806490	p.Pro326Ser	missense variant	-	NC_000012.12:g.106067812G>A	TOPMed
rs759616422	p.Leu327Phe	missense variant	-	NC_000012.12:g.106067809G>A	ExAC,gnomAD
rs1347388206	p.Ala329Thr	missense variant	-	NC_000012.12:g.106067803C>T	TOPMed,gnomAD
rs771180903	p.Arg330Trp	missense variant	-	NC_000012.12:g.106067800G>A	ExAC,TOPMed,gnomAD
rs748065457	p.Arg330Gln	missense variant	-	NC_000012.12:g.106067799C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile331Phe	missense variant	-	NC_000012.12:g.106067797T>A	NCI-TCGA
rs768485077	p.Ile332Leu	missense variant	-	NC_000012.12:g.106067794T>G	ExAC,gnomAD
rs1431553744	p.Arg337Cys	missense variant	-	NC_000012.12:g.106067779G>A	gnomAD
rs1266733924	p.Arg337His	missense variant	-	NC_000012.12:g.106067778C>T	gnomAD
rs746793160	p.Ser338Cys	missense variant	-	NC_000012.12:g.106067775G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly340Val	missense variant	-	NC_000012.12:g.106067769C>A	NCI-TCGA
rs1232609591	p.Leu341Gln	missense variant	-	NC_000012.12:g.106067766A>T	TOPMed,gnomAD
rs1214115854	p.Gln342His	missense variant	-	NC_000012.12:g.106067762C>G	gnomAD
rs750127082	p.Asp344Gly	missense variant	-	NC_000012.12:g.106067757T>C	ExAC,gnomAD
rs1234929060	p.Thr345Ile	missense variant	-	NC_000012.12:g.106067754G>A	TOPMed,gnomAD
rs374885903	p.Glu346Lys	missense variant	-	NC_000012.12:g.106067752C>T	ESP,ExAC,gnomAD
rs1215675081	p.Ala347Val	missense variant	-	NC_000012.12:g.106067748G>A	gnomAD
COSM6071114	p.Lys350Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067738C>A	NCI-TCGA Cosmic
rs761030245	p.Ala353Ser	missense variant	-	NC_000012.12:g.106067731C>A	ExAC,gnomAD
rs761030245	p.Ala353Thr	missense variant	-	NC_000012.12:g.106067731C>T	ExAC,gnomAD
rs1376413477	p.Lys354Glu	missense variant	-	NC_000012.12:g.106067728T>C	gnomAD
rs1442683209	p.Pro355Ser	missense variant	-	NC_000012.12:g.106067725G>A	TOPMed
rs753030924	p.Thr356Met	missense variant	-	NC_000012.12:g.106067721G>A	ExAC,TOPMed,gnomAD
rs1428816207	p.Val360Ala	missense variant	-	NC_000012.12:g.106067709A>G	TOPMed
rs1429069908	p.Val360Ile	missense variant	-	NC_000012.12:g.106067710C>T	gnomAD
rs774753144	p.Met361Ile	missense variant	-	NC_000012.12:g.106067705C>T	ExAC,gnomAD
rs574902249	p.Leu362Ile	missense variant	-	NC_000012.12:g.106067704G>T	1000Genomes,TOPMed
NCI-TCGA novel	p.Glu363Gln	missense variant	-	NC_000012.12:g.106067701C>G	NCI-TCGA
rs145399889	p.Arg364Gln	missense variant	-	NC_000012.12:g.106067697C>T	ESP,ExAC,TOPMed,gnomAD
rs147705634	p.Arg364Trp	missense variant	-	NC_000012.12:g.106067698G>A	ESP,ExAC,TOPMed,gnomAD
rs941006183	p.Arg366Trp	missense variant	-	NC_000012.12:g.106067692G>A	TOPMed,gnomAD
rs768508553	p.Arg366Gln	missense variant	-	NC_000012.12:g.106067691C>T	ExAC,gnomAD
rs139881229	p.Ser367Leu	missense variant	-	NC_000012.12:g.106067688G>A	ESP,ExAC,TOPMed,gnomAD
COSM1298861	p.Glu374Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067668C>G	NCI-TCGA Cosmic
rs1218539974	p.Glu374Gly	missense variant	-	NC_000012.12:g.106067667T>C	gnomAD
rs1356569162	p.Asn375Thr	missense variant	-	NC_000012.12:g.106067664T>G	gnomAD
rs748804361	p.Gln379His	missense variant	-	NC_000012.12:g.106067651C>G	ExAC,TOPMed,gnomAD
rs756703559	p.Gln379Leu	missense variant	-	NC_000012.12:g.106067652T>A	ExAC
COSM4038240	p.Ser380Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067650A>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser380Phe	missense variant	-	NC_000012.12:g.106067649G>A	NCI-TCGA
rs1484026982	p.Gly381Val	missense variant	-	NC_000012.12:g.106067646C>A	TOPMed
COSM4038238	p.Ala384Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067638C>A	NCI-TCGA Cosmic
rs778299911	p.Ala384Pro	missense variant	-	NC_000012.12:g.106067638C>G	ExAC,gnomAD
rs1200591559	p.Pro386Leu	missense variant	-	NC_000012.12:g.106067631G>A	TOPMed
NCI-TCGA novel	p.Pro386His	missense variant	-	NC_000012.12:g.106067631G>T	NCI-TCGA
NCI-TCGA novel	p.Pro389Thr	missense variant	-	NC_000012.12:g.106067623G>T	NCI-TCGA
rs1463625642	p.Ser390Pro	missense variant	-	NC_000012.12:g.106067620A>G	TOPMed,gnomAD
COSM4038236	p.Lys391Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067617T>G	NCI-TCGA Cosmic
COSM934340	p.Lys391Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067615C>A	NCI-TCGA Cosmic
rs753293421	p.Lys391Met	missense variant	-	NC_000012.12:g.106067616T>A	ExAC,gnomAD
rs148697405	p.Leu392Val	missense variant	-	NC_000012.12:g.106067614A>C	ESP,TOPMed
rs1477449937	p.Lys395Glu	missense variant	-	NC_000012.12:g.106067605T>C	gnomAD
rs1418317423	p.Arg396Ser	missense variant	-	NC_000012.12:g.106067600C>A	gnomAD
NCI-TCGA novel	p.Arg396Met	missense variant	-	NC_000012.12:g.106067601C>A	NCI-TCGA
COSM3455463	p.Pro397Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067598G>C	NCI-TCGA Cosmic
rs767739254	p.Pro397Ser	missense variant	-	NC_000012.12:g.106067599G>A	ExAC,gnomAD
rs751816829	p.Lys403Glu	missense variant	-	NC_000012.12:g.106067581T>C	ExAC,gnomAD
rs142935663	p.Arg404Gln	missense variant	-	NC_000012.12:g.106067577C>T	ExAC,TOPMed
rs1379651915	p.Ser405Asn	missense variant	-	NC_000012.12:g.106067574C>T	TOPMed
NCI-TCGA novel	p.Ser405Arg	missense variant	-	NC_000012.12:g.106067573G>C	NCI-TCGA
rs1458750708	p.Asn406Asp	missense variant	-	NC_000012.12:g.106067572T>C	TOPMed,gnomAD
rs763058664	p.Asn406Lys	missense variant	-	NC_000012.12:g.106067570G>C	ExAC,TOPMed,gnomAD
rs368677538	p.Ser407Arg	missense variant	-	NC_000012.12:g.106067567G>C	ESP,ExAC,TOPMed,gnomAD
rs988961079	p.Glu408Lys	missense variant	-	NC_000012.12:g.106067566C>T	TOPMed,gnomAD
rs988961079	p.Glu408Ter	stop gained	-	NC_000012.12:g.106067566C>A	TOPMed,gnomAD
rs771843801	p.Arg410His	missense variant	-	NC_000012.12:g.106067559C>T	ExAC,TOPMed
rs370958059	p.Arg410Cys	missense variant	-	NC_000012.12:g.106067560G>A	ESP,ExAC,TOPMed,gnomAD
rs538221704	p.Ser411Pro	missense variant	-	NC_000012.12:g.106067557A>G	1000Genomes,ExAC,gnomAD
rs1303842096	p.His412Leu	missense variant	-	NC_000012.12:g.106067553T>A	TOPMed
rs202168878	p.Ile417Val	missense variant	-	NC_000012.12:g.106067539T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs202168878	p.Ile417Leu	missense variant	-	NC_000012.12:g.106067539T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs55774704	p.Gly419Asp	missense variant	-	NC_000012.12:g.106067532C>T	-
rs55774704	p.Gly419Asp	missense variant	-	NC_000012.12:g.106067532C>T	UniProt,dbSNP
VAR_040963	p.Gly419Asp	missense variant	-	NC_000012.12:g.106067532C>T	UniProt
rs777121945	p.Val420Ile	missense variant	-	NC_000012.12:g.106067530C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val420Ala	missense variant	-	NC_000012.12:g.106067529A>G	NCI-TCGA
rs144124030	p.Gly422Val	missense variant	-	NC_000012.12:g.106067523C>A	ESP,ExAC,TOPMed,gnomAD
rs748596334	p.Ala424Asp	missense variant	-	NC_000012.12:g.106067517G>T	ExAC,gnomAD
rs760814933	p.Pro426Ser	missense variant	-	NC_000012.12:g.106067512G>A	ExAC,gnomAD
rs760814933	p.Pro426Thr	missense variant	-	NC_000012.12:g.106067512G>T	ExAC,gnomAD
rs1395068391	p.Pro426Leu	missense variant	-	NC_000012.12:g.106067511G>A	TOPMed,gnomAD
rs760814933	p.Pro426Ala	missense variant	-	NC_000012.12:g.106067512G>C	ExAC,gnomAD
rs1456237104	p.Ser427Phe	missense variant	-	NC_000012.12:g.106067508G>A	gnomAD
rs559454484	p.Lys430Asn	missense variant	-	NC_000012.12:g.106067498C>A	gnomAD
rs751977714	p.Glu432Gln	missense variant	-	NC_000012.12:g.106067494C>G	ExAC
rs780375162	p.Gln433Arg	missense variant	-	NC_000012.12:g.106067490T>C	ExAC,gnomAD
rs750699063	p.Asp434Gly	missense variant	-	NC_000012.12:g.106067487T>C	ExAC,gnomAD
rs765230050	p.Asp434Glu	missense variant	-	NC_000012.12:g.106067486G>C	ExAC,gnomAD
rs762013451	p.Leu435Phe	missense variant	-	NC_000012.12:g.106067483C>G	ExAC
rs752522185	p.Arg437Gly	missense variant	-	NC_000012.12:g.106067479T>C	ExAC,TOPMed,gnomAD
rs898106278	p.Arg437Ser	missense variant	-	NC_000012.12:g.106067477C>G	TOPMed,gnomAD
rs994230233	p.Arg437Met	missense variant	-	NC_000012.12:g.106067478C>A	TOPMed
rs759290535	p.Gly439Val	missense variant	-	NC_000012.12:g.106067472C>A	ExAC,TOPMed,gnomAD
rs759290535	p.Gly439Asp	missense variant	-	NC_000012.12:g.106067472C>T	ExAC,TOPMed,gnomAD
rs1022920336	p.Val440Met	missense variant	-	NC_000012.12:g.106067470C>T	TOPMed,gnomAD
rs1351714295	p.Val440Gly	missense variant	-	NC_000012.12:g.106067469A>C	gnomAD
rs770758232	p.Leu442Phe	missense variant	-	NC_000012.12:g.106067464G>A	ExAC,gnomAD
rs1458873105	p.Pro443Ser	missense variant	-	NC_000012.12:g.106067461G>A	gnomAD
rs749654957	p.Pro443Leu	missense variant	-	NC_000012.12:g.106067460G>A	TOPMed,gnomAD
rs1038340199	p.Ser445Leu	missense variant	-	NC_000012.12:g.106067454G>A	TOPMed,gnomAD
rs1452278544	p.Glu447Gly	missense variant	-	NC_000012.12:g.106067448T>C	TOPMed
rs1384994807	p.Val450Glu	missense variant	-	NC_000012.12:g.106067439A>T	gnomAD
rs769172384	p.Pro451Ser	missense variant	-	NC_000012.12:g.106067437G>A	ExAC,gnomAD
rs747705556	p.Pro451Leu	missense variant	-	NC_000012.12:g.106067436G>A	ExAC,TOPMed,gnomAD
rs1157642732	p.Gly452Glu	missense variant	-	NC_000012.12:g.106067433C>T	gnomAD
rs769318013	p.Lys453Gln	missense variant	-	NC_000012.12:g.106067431T>G	ExAC,gnomAD
rs747568443	p.Lys453Arg	missense variant	-	NC_000012.12:g.106067430T>C	ExAC,gnomAD
rs1197452411	p.Leu454Pro	missense variant	-	NC_000012.12:g.106067427A>G	gnomAD
rs758901008	p.Pro456Arg	missense variant	-	NC_000012.12:g.106067421G>C	ExAC,gnomAD
rs1375542497	p.Pro456Ser	missense variant	-	NC_000012.12:g.106067422G>A	TOPMed,gnomAD
rs373657293	p.Gln458Lys	missense variant	-	NC_000012.12:g.106067416G>T	ESP,TOPMed,gnomAD
rs373657293	p.Gln458Glu	missense variant	-	NC_000012.12:g.106067416G>C	ESP,TOPMed,gnomAD
rs1038316952	p.Ser459Leu	missense variant	-	NC_000012.12:g.106067412G>A	gnomAD
rs1487450986	p.Ser459Pro	missense variant	-	NC_000012.12:g.106067413A>G	gnomAD
rs757219955	p.Thr461Met	missense variant	-	NC_000012.12:g.106067406G>A	ExAC,TOPMed,gnomAD
rs779212474	p.Thr461Ser	missense variant	-	NC_000012.12:g.106067407T>A	ExAC,TOPMed,gnomAD
rs1325633815	p.Met462Leu	missense variant	-	NC_000012.12:g.106067404T>A	gnomAD
COSM3810856	p.Leu468Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067384C>A	NCI-TCGA Cosmic
rs759443668	p.Lys469Thr	missense variant	-	NC_000012.12:g.106067382T>G	ExAC,gnomAD
COSM1358403	p.Lys470Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067379T>G	NCI-TCGA Cosmic
rs766156436	p.Thr471Ala	missense variant	-	NC_000012.12:g.106067377T>C	ExAC,TOPMed,gnomAD
rs1297259058	p.Arg474Gly	missense variant	-	NC_000012.12:g.106067368T>C	gnomAD
COSM934334	p.Glu475Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.106067365C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser476Leu	missense variant	-	NC_000012.12:g.106067361G>A	NCI-TCGA
rs967772508	p.Ser480Phe	missense variant	-	NC_000012.12:g.106067349G>A	TOPMed
rs772681107	p.Arg484Cys	missense variant	-	NC_000012.12:g.106067338G>A	ExAC,gnomAD
rs111758972	p.Arg484His	missense variant	-	NC_000012.12:g.106067337C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1170229574	p.Ser485Gly	missense variant	-	NC_000012.12:g.106067335T>C	gnomAD
rs200489873	p.Ser488Leu	missense variant	-	NC_000012.12:g.106067325G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200489873	p.Ser488Trp	missense variant	-	NC_000012.12:g.106067325G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM4038232	p.Glu489Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.106067323C>A	NCI-TCGA Cosmic
rs979077065	p.Asp492Asn	missense variant	-	NC_000012.12:g.106067314C>T	TOPMed
rs979077065	p.Asp492Tyr	missense variant	-	NC_000012.12:g.106067314C>A	TOPMed
rs747515410	p.Ser493Cys	missense variant	-	NC_000012.12:g.106067311T>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser493Ile	missense variant	-	NC_000012.12:g.106067310C>A	NCI-TCGA
rs1417352690	p.Asn494Ser	missense variant	-	NC_000012.12:g.106067307T>C	TOPMed
rs780767441	p.Asn494Asp	missense variant	-	NC_000012.12:g.106067308T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val496Ala	missense variant	-	NC_000012.12:g.106067301A>G	NCI-TCGA
rs1278818503	p.Met497Ile	missense variant	-	NC_000012.12:g.106067297C>T	gnomAD
rs1340117815	p.Met497Lys	missense variant	-	NC_000012.12:g.106067298A>T	gnomAD
rs376346267	p.Met497Leu	missense variant	-	NC_000012.12:g.106067299T>A	ESP,ExAC,TOPMed,gnomAD
rs1220374576	p.Gly498Asp	missense variant	-	NC_000012.12:g.106067295C>T	TOPMed,gnomAD
rs201594672	p.Ser499Arg	missense variant	-	NC_000012.12:g.106067291G>C	ESP,ExAC,TOPMed,gnomAD
rs201594672	p.Ser499Arg	missense variant	-	NC_000012.12:g.106067291G>T	ESP,ExAC,TOPMed,gnomAD
rs1448313760	p.Ser500Ile	missense variant	-	NC_000012.12:g.106067289C>A	gnomAD
rs1279733898	p.Pro502Leu	missense variant	-	NC_000012.12:g.106067283G>A	TOPMed
rs1279733898	p.Pro502His	missense variant	-	NC_000012.12:g.106067283G>T	TOPMed
rs1331669032	p.Pro502Ser	missense variant	-	NC_000012.12:g.106067284G>A	gnomAD
COSM5177095	p.Ser503ProPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.106067281A>-	NCI-TCGA Cosmic
rs777795435	p.Ser503Phe	missense variant	-	NC_000012.12:g.106067280G>A	ExAC,TOPMed,gnomAD
rs756250055	p.Pro504Arg	missense variant	-	NC_000012.12:g.106067277G>C	ExAC,gnomAD
rs1173528526	p.Pro504Ala	missense variant	-	NC_000012.12:g.106067278G>C	gnomAD
rs1210386962	p.Ser505Arg	missense variant	-	NC_000012.12:g.106067275T>G	gnomAD
rs1473915287	p.Ser505Ile	missense variant	-	NC_000012.12:g.106067274C>A	gnomAD
NCI-TCGA novel	p.Ser505Arg	missense variant	-	NC_000012.12:g.106067273G>C	NCI-TCGA
rs750262992	p.Pro507Leu	missense variant	-	NC_000012.12:g.106067268G>A	ExAC,TOPMed,gnomAD
rs750262992	p.Pro507Arg	missense variant	-	NC_000012.12:g.106067268G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro507ArgPheSerTerUnk	frameshift	-	NC_000012.12:g.106067268G>-	NCI-TCGA
NCI-TCGA novel	p.Asp508GlyPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.106067267_106067268insG	NCI-TCGA
rs763685502	p.Arg511Gly	missense variant	-	NC_000012.12:g.106067257T>C	ExAC,gnomAD
rs776076144	p.Val512Leu	missense variant	-	NC_000012.12:g.106067254C>A	ExAC,TOPMed,gnomAD
rs772669640	p.Thr513Pro	missense variant	-	NC_000012.12:g.106067251T>G	ExAC,TOPMed,gnomAD
rs774760278	p.Ser514Cys	missense variant	-	NC_000012.12:g.106067247G>C	ExAC,TOPMed,gnomAD
rs76743942	p.Ser514Pro	missense variant	-	NC_000012.12:g.106067248A>G	ExAC,gnomAD
rs115159926	p.His515Pro	missense variant	-	NC_000012.12:g.106067244T>G	ExAC,gnomAD
rs115159926	p.His515Arg	missense variant	-	NC_000012.12:g.106067244T>C	ExAC,gnomAD
rs778025072	p.Ser518Phe	missense variant	-	NC_000012.12:g.106067235G>A	ExAC,gnomAD
rs1166066281	p.Cys519Ser	missense variant	-	NC_000012.12:g.106067232C>G	gnomAD
rs374659997	p.Arg520Trp	missense variant	-	NC_000012.12:g.106067230G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs117517173	p.Arg520Gln	missense variant	-	NC_000012.12:g.106067229C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3986588	p.His527Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067209G>T	NCI-TCGA Cosmic
rs750367833	p.His527Gln	missense variant	-	NC_000012.12:g.106067207G>C	ExAC,gnomAD
rs765077418	p.Ser528Arg	missense variant	-	NC_000012.12:g.106067204G>T	ExAC,TOPMed,gnomAD
rs765077418	p.Ser528Arg	missense variant	-	NC_000012.12:g.106067204G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser529Arg	missense variant	-	NC_000012.12:g.106067201G>T	NCI-TCGA
rs112197976	p.Ala533Val	missense variant	-	NC_000012.12:g.106067190G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala533Thr	missense variant	-	NC_000012.12:g.106067191C>T	NCI-TCGA
rs1222194861	p.Gly534Val	missense variant	-	NC_000012.12:g.106067187C>A	gnomAD
rs760225538	p.Thr535Ala	missense variant	-	NC_000012.12:g.106067185T>C	ExAC,TOPMed,gnomAD
rs938846208	p.Met536Thr	missense variant	-	NC_000012.12:g.106067181A>G	TOPMed
rs775166034	p.Asp537Glu	missense variant	-	NC_000012.12:g.106067177G>C	ExAC,gnomAD
COSM1358399	p.Ala539Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067173C>A	NCI-TCGA Cosmic
rs766989137	p.Ala539Pro	missense variant	-	NC_000012.12:g.106067173C>G	ExAC,TOPMed,gnomAD
COSM934332	p.Val541Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067166A>G	NCI-TCGA Cosmic
rs946121044	p.Ser542Asn	missense variant	-	NC_000012.12:g.106067163C>T	TOPMed,gnomAD
rs3741883	p.Pro543Arg	missense variant	-	NC_000012.12:g.106067160G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs3741883	p.Pro543His	missense variant	-	NC_000012.12:g.106067160G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1294686966	p.Pro543Ser	missense variant	-	NC_000012.12:g.106067161G>A	TOPMed,gnomAD
COSM4038230	p.Met545Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067153C>T	NCI-TCGA Cosmic
rs773354501	p.Met545Thr	missense variant	-	NC_000012.12:g.106067154A>G	ExAC,gnomAD
rs1164446129	p.Pro546Ala	missense variant	-	NC_000012.12:g.106067152G>C	gnomAD
rs1382357992	p.Thr547Ile	missense variant	-	NC_000012.12:g.106067148G>A	gnomAD
rs1420558174	p.Thr547Ala	missense variant	-	NC_000012.12:g.106067149T>C	gnomAD
COSM458280	p.Ser550Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067139G>A	NCI-TCGA Cosmic
rs748176544	p.Leu551Pro	missense variant	-	NC_000012.12:g.106067136A>G	ExAC,gnomAD
rs1425947536	p.Glu553Gly	missense variant	-	NC_000012.12:g.106067130T>C	gnomAD
rs1191768372	p.Pro554Ser	missense variant	-	NC_000012.12:g.106067128G>A	gnomAD
rs781309800	p.Pro554Leu	missense variant	-	NC_000012.12:g.106067127G>A	ExAC,TOPMed,gnomAD
COSM3455457	p.Gly555Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067124C>G	NCI-TCGA Cosmic
COSM3455459	p.Gly555Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067124C>T	NCI-TCGA Cosmic
rs1244780590	p.Gly555Val	missense variant	-	NC_000012.12:g.106067124C>A	gnomAD
rs1182316747	p.Pro557Thr	missense variant	-	NC_000012.12:g.106067119G>T	TOPMed
rs1488431371	p.Ala558Asp	missense variant	-	NC_000012.12:g.106067115G>T	gnomAD
rs757047758	p.Glu559Ter	stop gained	-	NC_000012.12:g.106067113C>A	ExAC,TOPMed,gnomAD
rs757047758	p.Glu559Gln	missense variant	-	NC_000012.12:g.106067113C>G	ExAC,TOPMed,gnomAD
rs757047758	p.Glu559Lys	missense variant	-	NC_000012.12:g.106067113C>T	ExAC,TOPMed,gnomAD
rs755809583	p.Arg563Gln	missense variant	-	NC_000012.12:g.106067100C>T	ExAC,TOPMed,gnomAD
rs777522611	p.Arg563Trp	missense variant	-	NC_000012.12:g.106067101G>A	ExAC,TOPMed,gnomAD
rs1293338483	p.Tyr565Cys	missense variant	-	NC_000012.12:g.106067094T>C	gnomAD
COSM6071116	p.Ser566Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067091C>A	NCI-TCGA Cosmic
rs767053893	p.Ser566Arg	missense variant	-	NC_000012.12:g.106067090G>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser566Asn	missense variant	-	NC_000012.12:g.106067091C>T	NCI-TCGA
rs752050315	p.Arg567His	missense variant	-	NC_000012.12:g.106067088C>T	ExAC,gnomAD
rs759029750	p.Arg567Cys	missense variant	-	NC_000012.12:g.106067089G>A	ExAC,TOPMed,gnomAD
rs1178254979	p.Pro568Thr	missense variant	-	NC_000012.12:g.106067086G>T	TOPMed,gnomAD
rs770193954	p.Val571Ala	missense variant	-	NC_000012.12:g.106067076A>G	ExAC,TOPMed,gnomAD
rs773589766	p.Val571Ile	missense variant	-	NC_000012.12:g.106067077C>T	ExAC,gnomAD
rs200755374	p.Ile572Thr	missense variant	-	NC_000012.12:g.106067073A>G	TOPMed,gnomAD
rs186215853	p.Asp574Asn	missense variant	-	NC_000012.12:g.106067068C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs186215853	p.Asp574Tyr	missense variant	-	NC_000012.12:g.106067068C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM1358397	p.Ser576Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067060G>T	NCI-TCGA Cosmic
rs768722408	p.Val577Met	missense variant	-	NC_000012.12:g.106067059C>T	ExAC,TOPMed,gnomAD
rs540753037	p.Ser580Arg	missense variant	-	NC_000012.12:g.106067048G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs778868101	p.Asp581Asn	missense variant	-	NC_000012.12:g.106067047C>T	ExAC,TOPMed,gnomAD
rs1342855138	p.Ser582Tyr	missense variant	-	NC_000012.12:g.106067043G>T	TOPMed,gnomAD
rs1468866803	p.Phe583Ser	missense variant	-	NC_000012.12:g.106067040A>G	TOPMed
COSM6135492	p.Asp587Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067029C>A	NCI-TCGA Cosmic
rs777676118	p.Arg592Cys	missense variant	-	NC_000012.12:g.106067014G>A	ExAC,TOPMed,gnomAD
rs147065969	p.Arg592His	missense variant	-	NC_000012.12:g.106067013C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1347505753	p.Pro593Arg	missense variant	-	NC_000012.12:g.106067010G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Pro593Ser	missense variant	-	NC_000012.12:g.106067011G>A	NCI-TCGA
rs1464645111	p.Ala594Pro	missense variant	-	NC_000012.12:g.106067008C>G	TOPMed,gnomAD
rs1324493779	p.Ala594Val	missense variant	-	NC_000012.12:g.106067007G>A	TOPMed
rs552751383	p.Arg595Cys	missense variant	-	NC_000012.12:g.106067005G>A	ExAC,TOPMed,gnomAD
rs141618950	p.Arg595His	missense variant	-	NC_000012.12:g.106067004C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141618950	p.Arg595Leu	missense variant	-	NC_000012.12:g.106067004C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200179138	p.Arg597Cys	missense variant	-	NC_000012.12:g.106066999G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200668694	p.Arg597Pro	missense variant	-	NC_000012.12:g.106066998C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs200668694	p.Arg597His	missense variant	-	NC_000012.12:g.106066998C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs762178790	p.Arg599His	missense variant	-	NC_000012.12:g.106066992C>T	ExAC,gnomAD
rs147896976	p.Arg599Cys	missense variant	-	NC_000012.12:g.106066993G>A	ESP,ExAC,TOPMed,gnomAD
rs1199831417	p.Ser600Asn	missense variant	-	NC_000012.12:g.106066989C>T	gnomAD
rs776844714	p.Ser600Gly	missense variant	-	NC_000012.12:g.106066990T>C	ExAC,gnomAD
rs201685343	p.Val602Ile	missense variant	-	NC_000012.12:g.106066984C>T	ExAC,TOPMed,gnomAD
rs1227100746	p.Val602Ala	missense variant	-	NC_000012.12:g.106066983A>G	gnomAD
rs553121163	p.Asn606Asp	missense variant	-	NC_000012.12:g.106066972T>C	1000Genomes,ExAC
NCI-TCGA novel	p.Leu608Ile	missense variant	-	NC_000012.12:g.106066966G>T	NCI-TCGA
NCI-TCGA novel	p.Leu608Phe	missense variant	-	NC_000012.12:g.106066966G>A	NCI-TCGA
rs769658123	p.Ile610Val	missense variant	-	NC_000012.12:g.106066960T>C	ExAC,TOPMed,gnomAD
COSM368561	p.Gln611Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.106066957G>A	NCI-TCGA Cosmic
rs1402315195	p.Gln611Arg	missense variant	-	NC_000012.12:g.106066956T>C	gnomAD
COSM691463	p.Asp612Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106066954C>A	NCI-TCGA Cosmic
rs536423988	p.Glu614Gly	missense variant	-	NC_000012.12:g.106066947T>C	1000Genomes
rs747902749	p.Gly615Arg	missense variant	-	NC_000012.12:g.106066945C>T	ExAC,TOPMed
rs1168408287	p.Gly615Val	missense variant	-	NC_000012.12:g.106066944C>A	gnomAD
rs371574217	p.Leu616Pro	missense variant	-	NC_000012.12:g.106066941A>G	ESP,ExAC,TOPMed,gnomAD
rs754610277	p.Gln617Arg	missense variant	-	NC_000012.12:g.106066938T>C	ExAC,TOPMed,gnomAD
rs201772373	p.Asn618Lys	missense variant	-	NC_000012.12:g.106066934G>T	1000Genomes,ESP,ExAC,gnomAD
rs372340813	p.Arg619Gly	missense variant	-	NC_000012.12:g.106066933G>C	ESP,ExAC,TOPMed,gnomAD
rs757960457	p.Arg619Gln	missense variant	-	NC_000012.12:g.106066932C>T	ExAC,TOPMed,gnomAD
rs372340813	p.Arg619Trp	missense variant	-	NC_000012.12:g.106066933G>A	ESP,ExAC,TOPMed,gnomAD
rs1336452571	p.Pro620Leu	missense variant	-	NC_000012.12:g.106066929G>A	TOPMed
rs757600015	p.Arg621Trp	missense variant	-	NC_000012.12:g.106066927G>A	ExAC,TOPMed,gnomAD
rs374349573	p.Arg621Gln	missense variant	-	NC_000012.12:g.106066926C>T	ESP,ExAC,TOPMed,gnomAD
rs1223760914	p.Pro622His	missense variant	-	NC_000012.12:g.106066923G>T	TOPMed
rs760774600	p.Leu625Pro	missense variant	-	NC_000012.12:g.106066914A>G	ExAC,TOPMed
rs1437952591	p.Lys626Met	missense variant	-	NC_000012.12:g.106066911T>A	TOPMed
rs775916862	p.Arg627Trp	missense variant	-	NC_000012.12:g.106066909G>A	ExAC,gnomAD
rs767695462	p.Arg627Gln	missense variant	-	NC_000012.12:g.106066908C>T	ExAC,TOPMed,gnomAD
rs142652201	p.Arg629Gln	missense variant	-	NC_000012.12:g.106066902C>T	ESP,ExAC,TOPMed,gnomAD
rs151011578	p.Arg629Trp	missense variant	-	NC_000012.12:g.106066903G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs568713265	p.Asn630Lys	missense variant	-	NC_000012.12:g.106066898G>T	1000Genomes,ExAC,gnomAD
rs776270199	p.Arg631Gln	missense variant	-	NC_000012.12:g.106066896C>T	ExAC,TOPMed,gnomAD
rs552453023	p.Arg631Trp	missense variant	-	NC_000012.12:g.106066897G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1384179436	p.Ala633Gly	missense variant	-	NC_000012.12:g.106066890G>C	gnomAD
rs1390956618	p.Ser638Cys	missense variant	-	NC_000012.12:g.106066875G>C	TOPMed
rs746637932	p.Ser638Ala	missense variant	-	NC_000012.12:g.106066876A>C	ExAC
rs779695417	p.Thr641Ala	missense variant	-	NC_000012.12:g.106066867T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp642Asn	missense variant	-	NC_000012.12:g.106066864C>T	NCI-TCGA
NCI-TCGA novel	p.Met643Ile	missense variant	-	NC_000012.12:g.106066859C>A	NCI-TCGA
rs1452631825	p.Asp645Gly	missense variant	-	NC_000012.12:g.106066854T>C	gnomAD
NCI-TCGA novel	p.Asp645Asn	missense variant	-	NC_000012.12:g.106066855C>T	NCI-TCGA
rs757835723	p.Thr647Ile	missense variant	-	NC_000012.12:g.106066848G>A	ExAC,TOPMed,gnomAD
rs1314904874	p.Gln648Ter	stop gained	-	NC_000012.12:g.106066846G>A	TOPMed
rs1208388075	p.Gln648His	missense variant	-	NC_000012.12:g.106066844C>G	gnomAD
NCI-TCGA novel	p.Gln648His	missense variant	-	NC_000012.12:g.106066844C>A	NCI-TCGA
rs779341973	p.Tyr650Ter	stop gained	-	NC_000012.12:g.106066838G>C	ExAC,gnomAD
NCI-TCGA novel	p.Tyr650Cys	missense variant	-	NC_000012.12:g.106066839T>C	NCI-TCGA
rs1242563447	p.Gln652His	missense variant	-	NC_000012.12:g.106066832T>A	gnomAD
rs757681052	p.Ala653Val	missense variant	-	NC_000012.12:g.106066830G>A	ExAC,TOPMed,gnomAD
COSM691465	p.Leu660Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106066810G>C	NCI-TCGA Cosmic
rs756555513	p.Asn661His	missense variant	-	NC_000012.12:g.106066807T>G	ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0006413	Burkitt Lymphoma	disease	BEFREE
C0006826	Malignant Neoplasms	group	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0011881	Diabetic Nephropathy	disease	BEFREE
C0024299	Lymphoma	group	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025202	melanoma	disease	BEFREE
C0026764	Multiple Myeloma	disease	BEFREE;CTD_human
C0027626	Neoplasm Invasiveness	phenotype	CTD_human
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0032131	Plasmacytoma	disease	BEFREE
C0079772	T-Cell Lymphoma	disease	BEFREE
C0153676	Secondary malignant neoplasm of lung	disease	BEFREE
C0178874	Tumor Progression	phenotype	BEFREE
C0235974	Pancreatic carcinoma	disease	BEFREE
C0278883	Metastatic melanoma	disease	BEFREE
C0278996	Malignant Head and Neck Neoplasm	disease	BEFREE
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0686619	Secondary malignant neoplasm of lymph node	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C1168401	Squamous cell carcinoma of the head and neck	disease	BEFREE
C1306459	Primary malignant neoplasm	group	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE
C2939420	Metastatic Neoplasm	phenotype	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0002039	p53 binding	IPI
GO:0004674	protein serine/threonine kinase activity	IDA
GO:0004674	protein serine/threonine kinase activity	IBA
GO:0004674	protein serine/threonine kinase activity	TAS
GO:0005515	protein binding	IPI
GO:0005524	ATP binding	IEA
GO:0046872	metal ion binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006468	protein phosphorylation	IBA
GO:0006468	protein phosphorylation	IDA
GO:0006974	cellular response to DNA damage stimulus	IEA
GO:0007155	cell adhesion	IEA
GO:0030155	regulation of cell adhesion	IDA
GO:0035507	regulation of myosin-light-chain-phosphatase activity	IDA
GO:0035556	intracellular signal transduction	IBA
GO:0042127	regulation of cell population proliferation	TAS
GO:1901796	regulation of signal transduction by p53 class mediator	TAS
GO:2000772	regulation of cellular senescence	IDA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0001650	fibrillar center	IDA
GO:0005634	nucleus	IDA
GO:0005634	nucleus	IBA
GO:0005654	nucleoplasm	IDA
GO:0005654	nucleoplasm	TAS
GO:0005737	cytoplasm	IDA
GO:0005737	cytoplasm	IBA
GO:0015630	microtubule cytoskeleton	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-212436	Generic Transcription Pathway	TAS
R-HSA-3700989	Transcriptional Regulation by TP53	TAS
R-HSA-5633007	Regulation of TP53 Activity	TAS
R-HSA-6804756	Regulation of TP53 Activity through Phosphorylation	TAS
R-HSA-73857	RNA Polymerase II Transcription	TAS
R-HSA-74160	Gene expression (Transcription)	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C029497	2,3-bis(3'-hydroxybenzyl)butyrolactone	[Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in decreased expression of NUAK1 mRNA	19167446
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of NUAK1 mRNA	19150397
C496492	abrine	abrine results in increased expression of NUAK1 mRNA	31054353
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of NUAK1 mRNA	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of NUAK1 mRNA	21641981
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of NUAK1 gene	27153756
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of NUAK1 mRNA	24449571
D001151	Arsenic	Arsenic affects the methylation of NUAK1 gene	25304211
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of NUAK1 mRNA	20458559
D017638	Asbestos, Crocidolite	Asbestos, Crocidolite results in decreased expression of NUAK1 mRNA	29523930
D001280	Atrazine	Atrazine affects the methylation of NUAK1 gene	28931070
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of NUAK1 promoter	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of NUAK1 mRNA	19770486; 21569818;
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of NUAK1 mRNA	22228805
C006780	bisphenol A	bisphenol A results in decreased expression of NUAK1 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased expression of NUAK1 mRNA	30816183
C018475	butyraldehyde	butyraldehyde results in decreased expression of NUAK1 mRNA	26079696
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of NUAK1 mRNA	25596134
D002220	Carbamazepine	Carbamazepine affects the expression of NUAK1 mRNA	25979313
D002251	Carbon Tetrachloride	Carbon Tetrachloride affects the expression of NUAK1 mRNA	17484886
C004656	chloroacetaldehyde	chloroacetaldehyde results in decreased expression of NUAK1 mRNA	25596134
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of NUAK1 gene	20938992
D002945	Cisplatin	Cisplatin results in decreased expression of NUAK1 mRNA	25596134
D004002	Clodronic Acid	Clodronic Acid results in decreased expression of NUAK1 mRNA	25596134
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of NUAK1 mRNA	19320972
C018021	cobaltous chloride	cobaltous chloride results in increased expression of NUAK1 mRNA	19376846
D019327	Copper Sulfate	Copper Sulfate results in increased expression of NUAK1 mRNA	19549813
D003375	Coumestrol	[Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in decreased expression of NUAK1 mRNA	19167446
D003375	Coumestrol	Coumestrol results in decreased expression of NUAK1 mRNA	19167446
D003471	Cuprizone	Cuprizone results in increased expression of NUAK1 mRNA	27523638
D016572	Cyclosporine	Cyclosporine results in decreased expression of NUAK1 mRNA	20106945; 25596134; 27989131;
D000069439	Dasatinib	Dasatinib results in increased expression of NUAK1 mRNA	20579391
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of NUAK1 mRNA	21266533
D019422	Dietary Sucrose	Dietary Sucrose results in increased expression of NUAK1 mRNA	26033743
D004726	Endosulfan	Endosulfan results in decreased expression of NUAK1 mRNA	29391264
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of NUAK1 mRNA	22079256
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in increased expression of NUAK1 mRNA	30165855
D000431	Ethanol	Ethanol affects the expression of NUAK1 mRNA	30319688
D011345	Fenofibrate	Fenofibrate results in decreased expression of NUAK1 mRNA	25596134
D017313	Fenretinide	Fenretinide results in decreased expression of NUAK1 mRNA	28973697
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of NUAK1 gene	20938992
C000593030	GSK-J4	GSK-J4 results in increased expression of NUAK1 mRNA	29301935
C586756	HTH-01-015	HTH-01-015 inhibits the reaction [NUAK1 protein results in increased phosphorylation of and results in increased activity of PLK1 protein]	24785407
C586756	HTH-01-015	HTH-01-015 inhibits the reaction [NUAK1 protein results in increased phosphorylation of PPP1R12A protein]	24171924
C586756	HTH-01-015	HTH-01-015 results in decreased activity of NUAK1 protein	24171924; 24785407;
C586756	HTH-01-015	NUAK1 protein mutant form results in decreased susceptibility to HTH-01-015	24171924
D006861	Hydrogen Peroxide	Hydrogen Peroxide affects the expression of NUAK1 mRNA	20044591
D007052	Ibuprofen	Ibuprofen results in decreased expression of NUAK1 mRNA	25596134
D007069	Ifosfamide	Ifosfamide results in decreased expression of NUAK1 mRNA	25596134
D007213	Indomethacin	Indomethacin results in increased expression of NUAK1 mRNA	16984733
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of NUAK1 mRNA	25613284
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of NUAK1 mRNA	24796395; 25307878; 26752646;
D008070	Lipopolysaccharides	Lipopolysaccharides results in increased expression of NUAK1 mRNA	25613284
C025340	manganese chloride	manganese chloride results in increased expression of NUAK1 mRNA	28801915
D008558	Melphalan	Melphalan results in decreased expression of NUAK1 mRNA	22363485
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of NUAK1 gene	20938992
C000622638	MLN7243	MLN7243 results in increased sumoylation of NUAK1 protein	31285264
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of NUAK1 mRNA	25554681
C017096	n-butoxyethanol	n-butoxyethanol results in decreased expression of NUAK1 mRNA	19812364
D009532	Nickel	Nickel results in decreased expression of NUAK1 mRNA	24768652; 25583101;
C000594117	ON123300	ON123300 results in decreased phosphorylation of NUAK1 protein	24568969
C000594117	ON123300	ON123300 results in decreased activity of NUAK1 protein	26174628
D010100	Oxygen	Oxygen deficiency results in increased expression of NUAK1 mRNA	25596134
D010100	Oxygen	[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of NUAK1 mRNA	30529165
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of NUAK1 mRNA	19710929
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of NUAK1 mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of NUAK1 mRNA	22079256
D011794	Quercetin	Quercetin results in decreased expression of NUAK1 mRNA	21632981
D020849	Raloxifene Hydrochloride	Raloxifene Hydrochloride affects the expression of NUAK1 mRNA	14699072
D020849	Raloxifene Hydrochloride	[Raloxifene Hydrochloride co-treated with ESR2 protein] results in decreased expression of NUAK1 mRNA	19059307
D000077154	Rosiglitazone	Rosiglitazone results in decreased expression of NUAK1 mRNA	25596134
C547874	SAR 020106	SAR 020106 results in decreased activity of NUAK1 protein	22111927
D012834	Silver	Silver results in decreased expression of NUAK1 mRNA	27131904
D053260	Soot	Soot results in decreased expression of NUAK1 mRNA	22461453
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of NUAK1 mRNA	31299295
D013629	Tamoxifen	[Tamoxifen co-treated with ESR2 protein] results in decreased expression of NUAK1 mRNA	19059307
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of NUAK1 mRNA	20106945; 21632981;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of NUAK1 mRNA	21570461
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of NUAK1 mRNA	25613284
C009495	titanium dioxide	titanium dioxide results in decreased expression of NUAK1 mRNA	27760801
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of NUAK1 mRNA	28111298
D014212	Tretinoin	Tretinoin results in decreased expression of NUAK1 mRNA	23724009
D000077288	Troglitazone	Troglitazone results in decreased expression of NUAK1 mRNA	28973697
D014414	Tungsten	Tungsten results in decreased expression of NUAK1 mRNA	30912803
D014635	Valproic Acid	Valproic Acid results in decreased expression of NUAK1 mRNA	29154799
D014635	Valproic Acid	Valproic Acid results in increased expression of NUAK1 mRNA	24935251
D014635	Valproic Acid	Valproic Acid results in increased methylation of NUAK1 gene	29154799
D014638	Vanadates	Vanadates results in decreased expression of NUAK1 mRNA	22714537
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of NUAK1 gene	25560391
C586755	WZ4003	NUAK1 protein mutant form results in decreased susceptibility to WZ4003	24171924
C586755	WZ4003	WZ4003 inhibits the reaction [NUAK1 protein results in increased phosphorylation of and results in increased activity of PLK1 protein]	24785407
C586755	WZ4003	WZ4003 inhibits the reaction [NUAK1 protein results in increased phosphorylation of PPP1R12A protein]	24171924
C586755	WZ4003	WZ4003 results in decreased activity of NUAK1 protein	24171924; 24785407;

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0007	Acetylation
KW-0025	Alternative splicing
KW-0067	ATP-binding
KW-0130	Cell adhesion
KW-0963	Cytoplasm
KW-0227	DNA damage
KW-0418	Kinase
KW-0460	Magnesium
KW-0479	Metal-binding
KW-0547	Nucleotide-binding
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0723	Serine/threonine-protein kinase
KW-0808	Transferase
KW-0832	Ubl conjugation

Interpro

InterPro ID	InterPro Term
IPR011009	Kinase-like_dom_sf
IPR000719	Prot_kinase_dom
IPR017441	Protein_kinase_ATP_BS
IPR008271	Ser/Thr_kinase_AS

PROSITE

PROSITE ID	PROSITE Term
PS00107	PROTEIN_KINASE_ATP
PS50011	PROTEIN_KINASE_DOM
PS00108	PROTEIN_KINASE_ST

Pfam

Pfam ID	Pfam Term
PF00069	Pkinase

Gene: NUAK1

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction