CleftGeneDB-Search

Gene: LGR4

Basic information

Tag	Content
Uniprot ID	Q9BXB1; A6NCH3; G5E9B3; Q8N537; Q9NYD1;
Entrez ID	55366
Genbank protein ID	AAK31153.1; AAH33039.1; EAW68285.1; AAF68989.1; EAW68286.1;
Genbank nucleotide ID	NM_018490.3; NM_001346432.1;
Ensembl protein ID	ENSP00000374508; ENSP00000368516;
Ensembl nucleotide ID	ENSG00000205213
Gene name	Leucine-rich repeat-containing G-protein coupled receptor 4
Gene symbol	LGR4
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Receptor for R-spondins that potentiates the canonical Wnt signaling pathway and is involved in the formation of various organs. Upon binding to R-spondins (RSPO1, RSPO2, RSPO3 or RSPO4), associates with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. In contrast to classical G-protein coupled receptors, does not activate heterotrimeric G-proteins to transduce the signal. Its function as activator of the Wnt signaling pathway is required for the development of various organs, including liver, kidney, intestine, bone, reproductive tract and eye. May also act as a receptor for norrin (NDP), such results however require additional confirmation in vivo. Required during spermatogenesis to activate the Wnt signaling pathway in peritubular myoid cells. Required for the maintenance of intestinal stem cells and Paneth cell differentiation in postnatal intestinal crypts. Acts as a regulator of bone formation and remodeling. Involved in kidney development; required for maintaining the ureteric bud in an undifferentiated state. Involved in the development of the anterior segment of the eye. Required during erythropoiesis. Also acts as a negative regulator of innate immunity by inhibiting TLR2/TLR4 associated pattern-recognition and proinflammatory cytokine production. Plays an important role in regulating the circadian rhythms of plasma lipids, partially through regulating the rhythmic expression of MTTP (By similarity).
Sequence	MPGPLGLLCF LALGLLGSAG PSGAAPPLCA APCSCDGDRR VDCSGKGLTA VPEGLSAFTQ 60 ALDISMNNIT QLPEDAFKNF PFLEELQLAG NDLSFIHPKA LSGLKELKVL TLQNNQLKTV 120 PSEAIRGLSA LQSLRLDANH ITSVPEDSFE GLVQLRHLWL DDNSLTEVPV HPLSNLPTLQ 180 ALTLALNKIS SIPDFAFTNL SSLVVLHLHN NKIRSLSQHC FDGLDNLETL DLNYNNLGEF 240 PQAIKALPSL KELGFHSNSI SVIPDGAFDG NPLLRTIHLY DNPLSFVGNS AFHNLSDLHS 300 LVIRGASMVQ QFPNLTGTVH LESLTLTGTK ISSIPNNLCQ EQKMLRTLDL SYNNIRDLPS 360 FNGCHALEEI SLQRNQIYQI KEGTFQGLIS LRILDLSRNL IHEIHSRAFA TLGPITNLDV 420 SFNELTSFPT EGLNGLNQLK LVGNFKLKEA LAAKDFVNLR SLSVPYAYQC CAFWGCDSYA 480 NLNTEDNSLQ DHSVAQEKGT ADAANVTSTL ENEEHSQIII HCTPSTGAFK PCEYLLGSWM 540 IRLTVWFIFL VALFFNLLVI LTTFASCTSL PSSKLFIGLI SVSNLFMGIY TGILTFLDAV 600 SWGRFAEFGI WWETGSGCKV AGFLAVFSSE SAIFLLMLAT VERSLSAKDI MKNGKSNHLK 660 QFRVAALLAF LGATVAGCFP LFHRGEYSAS PLCLPFPTGE TPSLGFTVTL VLLNSLAFLL 720 MAVIYTKLYC NLEKEDLSEN SQSSMIKHVA WLIFTNCIFF CPVAFFSFAP LITAISISPE 780 IMKSVTLIFF PLPACLNPVL YVFFNPKFKE DWKLLKRRVT KKSGSVSVSI SSQGGCLEQD 840 FYYDCGMYSH LQGNLTVCDC CESFLLTKPV SCKHLIKSHS CPALAVASCQ RPEGYWSDCG 900 TQSAHSDYAD EEDSFVSDSS DQVQACGRAC FYQSRGFPLV RYAYNLPRVK D 951

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

PDB ID
4KT1
4QXE
4QXF
4KT1

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	LGR4		A0A452GBK2		Capra hircus	Prediction	More>>
1:1 ortholog	LGR4	55366	Q9BXB1		Homo sapiens	Prediction	More>>
1:1 ortholog	Lgr4	107515	A2ARI4	CPO	Mus musculus	Publication	More>>
1:1 ortholog	LGR4		H2R5I5		Pan troglodytes	Prediction	More>>
1:1 ortholog	LGR4	100518646	F1SGM5		Sus scrofa	Prediction	More>>
1:1 ortholog	LGR4	100356429	G1SL01		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Lgr4	286994	Q9Z2H4		Rattus norvegicus	Prediction	More>>
1:1 ortholog	lgr4	558825	E7FE13		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1288238177	p.Phe10Leu	missense variant	-	NC_000011.10:g.27472275A>G	TOPMed,gnomAD
rs1418290336	p.Leu11Ile	missense variant	-	NC_000011.10:g.27472272G>T	gnomAD
rs1178638283	p.Ala12Val	missense variant	-	NC_000011.10:g.27472268G>A	TOPMed,gnomAD
rs531396859	p.Leu16Pro	missense variant	-	NC_000011.10:g.27472256A>G	1000Genomes
rs1461440594	p.Gly17Ser	missense variant	-	NC_000011.10:g.27472254C>T	TOPMed
rs1222491503	p.Gly17Ala	missense variant	-	NC_000011.10:g.27472253C>G	gnomAD
rs1462232131	p.Ser18Leu	missense variant	-	NC_000011.10:g.27472250G>A	TOPMed,gnomAD
rs1462232131	p.Ser18Trp	missense variant	-	NC_000011.10:g.27472250G>C	TOPMed,gnomAD
rs918096327	p.Gly20Arg	missense variant	-	NC_000011.10:g.27472245C>G	TOPMed,gnomAD
rs1475406838	p.Pro21Leu	missense variant	-	NC_000011.10:g.27472241G>A	TOPMed
rs1374134998	p.Pro21Ala	missense variant	-	NC_000011.10:g.27472242G>C	TOPMed
rs1470401898	p.Gly23Ser	missense variant	-	NC_000011.10:g.27472236C>T	TOPMed
rs1470401898	p.Gly23Cys	missense variant	-	NC_000011.10:g.27472236C>A	TOPMed
rs1308150051	p.Ala24Val	missense variant	-	NC_000011.10:g.27472232G>A	gnomAD
rs1225722464	p.Ala25Val	missense variant	-	NC_000011.10:g.27472229G>A	gnomAD
rs1453512314	p.Pro26Gln	missense variant	-	NC_000011.10:g.27472226G>T	gnomAD
rs1336266893	p.Pro26Ser	missense variant	-	NC_000011.10:g.27472227G>A	gnomAD
rs1408306623	p.Cys29Arg	missense variant	-	NC_000011.10:g.27472218A>G	gnomAD
rs1412699401	p.Ala30Val	missense variant	-	NC_000011.10:g.27472214G>A	gnomAD
rs1452952330	p.Pro32Leu	missense variant	-	NC_000011.10:g.27472208G>A	gnomAD
rs774478222	p.Ser34Ile	missense variant	-	NC_000011.10:g.27472202C>A	ExAC,gnomAD
rs771305054	p.Gly37Cys	missense variant	-	NC_000011.10:g.27472194C>A	ExAC,gnomAD
rs771305054	p.Gly37Ser	missense variant	-	NC_000011.10:g.27472194C>T	ExAC,gnomAD
rs1296100162	p.Asp38Asn	missense variant	-	NC_000011.10:g.27472191C>T	TOPMed
rs1183785232	p.Asp38Ala	missense variant	-	NC_000011.10:g.27472190T>G	gnomAD
rs1445935940	p.Arg39Leu	missense variant	-	NC_000011.10:g.27472187C>A	TOPMed,gnomAD
rs1415604191	p.Arg40Pro	missense variant	-	NC_000011.10:g.27472184C>G	gnomAD
rs1225161093	p.Asp42Tyr	missense variant	-	NC_000011.10:g.27472179C>A	TOPMed
rs1323657891	p.Cys43Phe	missense variant	-	NC_000011.10:g.27472175C>A	TOPMed
rs1245648512	p.Cys43Ter	stop gained	-	NC_000011.10:g.27472174G>T	gnomAD
rs1486679844	p.Gly47Trp	missense variant	-	NC_000011.10:g.27472164C>A	TOPMed
rs1261729926	p.Thr49Ala	missense variant	-	NC_000011.10:g.27472158T>C	gnomAD
rs1218409054	p.Thr49Arg	missense variant	-	NC_000011.10:g.27472157G>C	gnomAD
rs1314637648	p.Ala50Val	missense variant	-	NC_000011.10:g.27472154G>A	gnomAD
rs201925650	p.Val51Leu	missense variant	-	NC_000011.10:g.27472152C>G	ExAC,TOPMed,gnomAD
rs201925650	p.Val51Met	missense variant	-	NC_000011.10:g.27472152C>T	ExAC,TOPMed,gnomAD
rs1428370107	p.Pro52Ser	missense variant	-	NC_000011.10:g.27472149G>A	TOPMed
rs1293522352	p.Glu53Ter	stop gained	-	NC_000011.10:g.27472146C>A	gnomAD
rs1293522352	p.Glu53Gln	missense variant	-	NC_000011.10:g.27472146C>G	gnomAD
rs1290512062	p.Ala57Ser	missense variant	-	NC_000011.10:g.27472134C>A	gnomAD
rs1422551835	p.Phe58Leu	missense variant	-	NC_000011.10:g.27472131A>G	TOPMed,gnomAD
rs1364662796	p.Thr59Asn	missense variant	-	NC_000011.10:g.27472127G>T	gnomAD
rs748723131	p.Gln60Glu	missense variant	-	NC_000011.10:g.27472125G>C	ExAC,gnomAD
rs1480966678	p.Asp63Gly	missense variant	-	NC_000011.10:g.27412858T>C	TOPMed
rs1248687899	p.Asp63Tyr	missense variant	-	NC_000011.10:g.27412859C>A	gnomAD
rs1195398691	p.Met66Lys	missense variant	-	NC_000011.10:g.27412849A>T	gnomAD
rs142775802	p.Asn68Asp	missense variant	-	NC_000011.10:g.27412844T>C	1000Genomes,ExAC,gnomAD
rs1253123496	p.Ile69Val	missense variant	-	NC_000011.10:g.27412841T>C	gnomAD
rs750137171	p.Gln71Leu	missense variant	-	NC_000011.10:g.27412834T>A	ExAC,gnomAD
rs1283785942	p.Leu72Ser	missense variant	-	NC_000011.10:g.27412831A>G	gnomAD
rs1406552053	p.Pro73Leu	missense variant	-	NC_000011.10:g.27412828G>A	gnomAD
rs1333727861	p.Asp75Glu	missense variant	-	NC_000011.10:g.27412821A>C	TOPMed,gnomAD
rs941407573	p.Ala76Thr	missense variant	-	NC_000011.10:g.27412820C>T	TOPMed,gnomAD
rs1422993680	p.Pro81Ser	missense variant	-	NC_000011.10:g.27412805G>A	TOPMed,gnomAD
COSM2113391	p.Glu85Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27412791C>G	NCI-TCGA Cosmic
rs1379922921	p.Glu85Gly	missense variant	-	NC_000011.10:g.27412792T>C	TOPMed
rs1382941841	p.Gln87Arg	missense variant	-	NC_000011.10:g.27392516T>C	gnomAD
COSM926134	p.Ala89Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27392510G>A	NCI-TCGA Cosmic
rs1304311592	p.Asn91Ser	missense variant	-	NC_000011.10:g.27392504T>C	TOPMed
rs1390733403	p.Asn91Asp	missense variant	-	NC_000011.10:g.27392505T>C	TOPMed
rs370663209	p.Asn91Lys	missense variant	-	NC_000011.10:g.27392503G>C	ESP,ExAC,TOPMed,gnomAD
rs376236224	p.Asp92Asn	missense variant	-	NC_000011.10:g.27392502C>T	ESP,TOPMed,gnomAD
rs1401684189	p.Leu93Phe	missense variant	-	NC_000011.10:g.27392499G>A	TOPMed,gnomAD
rs1362793306	p.Ser94Ala	missense variant	-	NC_000011.10:g.27392496A>C	gnomAD
rs757351670	p.Ile96Phe	missense variant	-	NC_000011.10:g.27392490T>A	ExAC,TOPMed,gnomAD
rs757351670	p.Ile96Val	missense variant	-	NC_000011.10:g.27392490T>C	ExAC,TOPMed,gnomAD
rs766337515	p.His97Tyr	missense variant	-	NC_000011.10:g.27392487G>A	ExAC,TOPMed,gnomAD
rs1170722289	p.Pro98Ser	missense variant	-	NC_000011.10:g.27392484G>A	TOPMed,gnomAD
rs377062692	p.Pro98Gln	missense variant	-	NC_000011.10:g.27392483G>T	ESP,ExAC,gnomAD
rs145577180	p.Lys99Glu	missense variant	-	NC_000011.10:g.27392481T>C	ESP,ExAC,TOPMed,gnomAD
rs1430602959	p.Ala100Thr	missense variant	-	NC_000011.10:g.27392478C>T	gnomAD
rs1489159063	p.Leu101Phe	missense variant	-	NC_000011.10:g.27392473C>A	gnomAD
rs1029033471	p.Lys105Glu	missense variant	-	NC_000011.10:g.27392463T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Glu106Lys	missense variant	-	NC_000011.10:g.27392460C>T	NCI-TCGA
rs768110034	p.Val109Ile	missense variant	-	NC_000011.10:g.27392451C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val109SerPheSerTerUnk	frameshift	-	NC_000011.10:g.27392451_27392452insT	NCI-TCGA
rs557754522	p.Thr111Ala	missense variant	-	NC_000011.10:g.27391164T>C	1000Genomes,gnomAD
rs750458681	p.Thr111Met	missense variant	-	NC_000011.10:g.27391163G>A	ExAC,TOPMed,gnomAD
rs1404724162	p.Asn114Lys	missense variant	-	NC_000011.10:g.27391153A>C	gnomAD
rs149706958	p.Gln116His	missense variant	-	NC_000011.10:g.27391147C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs961908195	p.Gln116Arg	missense variant	-	NC_000011.10:g.27391148T>C	TOPMed,gnomAD
rs1454647061	p.Thr119Pro	missense variant	-	NC_000011.10:g.27391140T>G	TOPMed
rs764338798	p.Thr119Arg	missense variant	-	NC_000011.10:g.27391139G>C	ExAC,TOPMed,gnomAD
rs761154827	p.Pro121Leu	missense variant	-	NC_000011.10:g.27391133G>A	ExAC,gnomAD
rs1329612369	p.Pro121Thr	missense variant	-	NC_000011.10:g.27391134G>T	gnomAD
rs1019972222	p.Ser122Arg	missense variant	-	NC_000011.10:g.27391131T>G	TOPMed
NCI-TCGA novel	p.Ser122Leu	insertion	-	NC_000011.10:g.27391128_27391129insAAG	NCI-TCGA
rs768029430	p.Ala124Val	missense variant	-	NC_000011.10:g.27391124G>A	ExAC,gnomAD
rs768029430	p.Ala124Gly	missense variant	-	NC_000011.10:g.27391124G>C	ExAC,gnomAD
COSM926133	p.Ile125Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27391120A>C	NCI-TCGA Cosmic
rs760042478	p.Ile125Val	missense variant	-	NC_000011.10:g.27391122T>C	ExAC,gnomAD
RCV000049335	p.Arg126Ter	nonsense	Bone mineral density quantitative trait locus 17 (BMND17)	NC_000011.10:g.27391119G>A	ClinVar
rs568680202	p.Arg126Gln	missense variant	-	NC_000011.10:g.27391118C>T	1000Genomes,ExAC,gnomAD
rs568680202	p.Arg126Pro	missense variant	-	NC_000011.10:g.27391118C>G	1000Genomes,ExAC,gnomAD
rs587777005	p.Arg126Ter	stop gained	Bone mineral density quantitative trait locus 17 (bmnd17)	NC_000011.10:g.27391119G>A	TOPMed
rs762561065	p.Leu128Gln	missense variant	-	NC_000011.10:g.27391112A>T	ExAC,gnomAD
COSM3446568	p.Ala130Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27391106G>A	NCI-TCGA Cosmic
rs139788349	p.Ala130Ser	missense variant	-	NC_000011.10:g.27391107C>A	ESP,ExAC,TOPMed,gnomAD
rs747930921	p.Leu131Val	missense variant	-	NC_000011.10:g.27391104A>C	ExAC,gnomAD
rs1459535651	p.Gln132Arg	missense variant	-	NC_000011.10:g.27391100T>C	gnomAD
rs183096316	p.Arg135His	missense variant	-	NC_000011.10:g.27385466C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1314460232	p.Arg135Cys	missense variant	-	NC_000011.10:g.27385467G>A	gnomAD
rs1381267350	p.Asp137His	missense variant	-	NC_000011.10:g.27385461C>G	gnomAD
rs536355546	p.Ala138Asp	missense variant	-	NC_000011.10:g.27385457G>T	ExAC,gnomAD
rs765849642	p.Thr142Ala	missense variant	-	NC_000011.10:g.27385446T>C	ExAC,gnomAD
rs1396096204	p.Ser143Pro	missense variant	-	NC_000011.10:g.27385443A>G	gnomAD
rs1369443351	p.Val144Gly	missense variant	-	NC_000011.10:g.27385439A>C	TOPMed
rs769421305	p.Glu146Lys	missense variant	-	NC_000011.10:g.27385434C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu146Gly	missense variant	-	NC_000011.10:g.27385433T>C	NCI-TCGA
rs530261420	p.Asp147Val	missense variant	-	NC_000011.10:g.27385430T>A	1000Genomes,ExAC,gnomAD
rs548402677	p.Asp147Tyr	missense variant	-	NC_000011.10:g.27385431C>A	1000Genomes,ExAC,gnomAD
COSM6132155	p.Glu150Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27385422C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu150Asp	missense variant	-	NC_000011.10:g.27385420T>A	NCI-TCGA
rs1424977595	p.Gly151Arg	missense variant	-	NC_000011.10:g.27385419C>G	gnomAD
rs1403005545	p.Gln154Lys	missense variant	-	NC_000011.10:g.27385410G>T	TOPMed
rs749587915	p.Arg156Trp	missense variant	-	NC_000011.10:g.27385404G>A	ExAC,TOPMed,gnomAD
rs143913282	p.Arg156Gln	missense variant	-	NC_000011.10:g.27385403C>T	ESP,ExAC,TOPMed,gnomAD
rs772158015	p.His157Arg	missense variant	-	NC_000011.10:g.27385400T>C	ExAC,gnomAD
rs1398435177	p.Trp159Cys	missense variant	-	NC_000011.10:g.27385393C>G	TOPMed
rs559583578	p.Asp161Glu	missense variant	-	NC_000011.10:g.27385387A>T	1000Genomes,ExAC,gnomAD
rs777723959	p.Asp161Gly	missense variant	-	NC_000011.10:g.27385388T>C	ExAC,gnomAD
COSM1353337	p.Asp162Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27385385T>C	NCI-TCGA Cosmic
rs901907532	p.Thr166Met	missense variant	-	NC_000011.10:g.27385373G>A	TOPMed,gnomAD
rs1176371333	p.Glu167Asp	missense variant	-	NC_000011.10:g.27385369C>A	TOPMed,gnomAD
rs755381357	p.Pro169His	missense variant	-	NC_000011.10:g.27385364G>T	ExAC,TOPMed,gnomAD
rs751940116	p.Val170Leu	missense variant	-	NC_000011.10:g.27385362C>A	ExAC,gnomAD
rs751940116	p.Val170Met	missense variant	-	NC_000011.10:g.27385362C>T	ExAC,gnomAD
rs1053576109	p.His171Gln	missense variant	-	NC_000011.10:g.27385357G>T	TOPMed,gnomAD
COSM3446567	p.Pro172Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27385356G>A	NCI-TCGA Cosmic
rs371279462	p.Leu173Phe	missense variant	-	NC_000011.10:g.27385353G>A	ESP,ExAC,TOPMed,gnomAD
rs371279462	p.Leu173Val	missense variant	-	NC_000011.10:g.27385353G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu173SerPheSerTerUnkUnk	frameshift	-	NC_000011.10:g.27385353G>-	NCI-TCGA
rs764710465	p.Ser174Arg	missense variant	-	NC_000011.10:g.27385348G>T	ExAC,gnomAD
rs1169006445	p.Thr178Ile	missense variant	-	NC_000011.10:g.27385337G>A	gnomAD
COSM428877	p.Gln180Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27385331T>C	NCI-TCGA Cosmic
rs775456873	p.Ala181Val	missense variant	-	NC_000011.10:g.27385328G>A	ExAC,TOPMed,gnomAD
rs775456873	p.Ala181Glu	missense variant	-	NC_000011.10:g.27385328G>T	ExAC,TOPMed,gnomAD
rs1183404284	p.AlaLeuThrLeuAlaLeuAsn181AlaLeuThrLeuAlaLeuSerTerProTrpLeuSerUnk	stop gained	-	NC_000011.10:g.27385311_27385327dup	gnomAD
rs745810561	p.Thr183Ala	missense variant	-	NC_000011.10:g.27385323T>C	ExAC,gnomAD
rs773331622	p.Thr183Ile	missense variant	-	NC_000011.10:g.27385322G>A	ExAC,TOPMed,gnomAD
rs1478422675	p.Leu186Val	missense variant	-	NC_000011.10:g.27385314G>C	TOPMed
rs1226679746	p.Ser191Ile	missense variant	-	NC_000011.10:g.27385298C>A	gnomAD
rs1249453461	p.Ile192Val	missense variant	-	NC_000011.10:g.27385296T>C	gnomAD
NCI-TCGA novel	p.Ile192GluPheSerTerUnkUnk	frameshift	-	NC_000011.10:g.27385296_27385297insATTTC	NCI-TCGA
rs781339140	p.Asp194Gly	missense variant	-	NC_000011.10:g.27385289T>C	ExAC,TOPMed,gnomAD
rs755219941	p.Phe197Leu	missense variant	-	NC_000011.10:g.27385281A>G	ExAC,gnomAD
NCI-TCGA novel	p.Thr198Ala	missense variant	-	NC_000011.10:g.27385278T>C	NCI-TCGA
rs565257779	p.Asn199Ser	missense variant	-	NC_000011.10:g.27385274T>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu200His	missense variant	-	NC_000011.10:g.27385271A>T	NCI-TCGA
rs768593996	p.Ser201Leu	missense variant	-	NC_000011.10:g.27385268G>A	TOPMed,gnomAD
rs758727838	p.His207Arg	missense variant	-	NC_000011.10:g.27384405T>C	ExAC,TOPMed,gnomAD
rs746365357	p.His209Arg	missense variant	-	NC_000011.10:g.27384399T>C	ExAC,TOPMed,gnomAD
rs1279169767	p.Asn210His	missense variant	-	NC_000011.10:g.27384397T>G	gnomAD
rs1246815630	p.Asn211Ser	missense variant	-	NC_000011.10:g.27384393T>C	TOPMed
rs779240485	p.Asn211Asp	missense variant	-	NC_000011.10:g.27384394T>C	ExAC,gnomAD
rs1259805873	p.Arg214Gly	missense variant	-	NC_000011.10:g.27384385T>C	gnomAD
rs1040498929	p.Leu216Val	missense variant	-	NC_000011.10:g.27384379G>C	TOPMed
rs1477381625	p.Gln218Arg	missense variant	-	NC_000011.10:g.27384372T>C	TOPMed
NCI-TCGA novel	p.Cys220Tyr	missense variant	-	NC_000011.10:g.27384366C>T	NCI-TCGA
rs1451165108	p.Gly223Arg	missense variant	-	NC_000011.10:g.27384358C>T	gnomAD
rs1335361849	p.Leu224Val	missense variant	-	NC_000011.10:g.27384355G>C	gnomAD
rs1381704985	p.Asp225Asn	missense variant	-	NC_000011.10:g.27384352C>T	TOPMed
rs1383236989	p.Asp225Gly	missense variant	-	NC_000011.10:g.27384351T>C	gnomAD
rs755819497	p.Leu227Arg	missense variant	-	NC_000011.10:g.27384345A>C	ExAC,gnomAD
rs1474383258	p.Leu232Val	missense variant	-	NC_000011.10:g.27382252A>C	gnomAD
COSM4032214	p.Asn235Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27382243T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu237Phe	missense variant	-	NC_000011.10:g.27382235C>A	NCI-TCGA
rs1468267236	p.Glu239Lys	missense variant	-	NC_000011.10:g.27382231C>T	gnomAD
rs1391554883	p.Phe240Leu	missense variant	-	NC_000011.10:g.27382228A>G	gnomAD
NCI-TCGA novel	p.Phe240Leu	missense variant	-	NC_000011.10:g.27382226A>C	NCI-TCGA
rs1489108220	p.Pro241His	missense variant	-	NC_000011.10:g.27382224G>T	gnomAD
rs749872002	p.Ile244Val	missense variant	-	NC_000011.10:g.27382216T>C	ExAC,TOPMed,gnomAD
rs1220349257	p.Ala246Thr	missense variant	-	NC_000011.10:g.27382210C>T	gnomAD
rs1451718983	p.Pro248Leu	missense variant	-	NC_000011.10:g.27382203G>A	gnomAD
rs755727709	p.Ser249Arg	missense variant	-	NC_000011.10:g.27382199G>T	ExAC,TOPMed,gnomAD
rs777420982	p.Ser249Asn	missense variant	-	NC_000011.10:g.27382200C>T	ExAC,gnomAD
rs747452830	p.Glu252Asp	missense variant	-	NC_000011.10:g.27382190C>G	gnomAD
rs1435910967	p.Glu252Ter	stop gained	-	NC_000011.10:g.27382192C>A	TOPMed
rs1458880615	p.His256Asp	missense variant	-	NC_000011.10:g.27380959G>C	TOPMed
rs1332011712	p.His256Leu	missense variant	-	NC_000011.10:g.27380958T>A	gnomAD
rs989940363	p.Ser257Gly	missense variant	-	NC_000011.10:g.27380956T>C	TOPMed,gnomAD
rs1403714885	p.Asn258Ser	missense variant	-	NC_000011.10:g.27380952T>C	gnomAD
rs1414757826	p.Ser261Tyr	missense variant	-	NC_000011.10:g.27380943G>T	gnomAD
NCI-TCGA novel	p.Ser261Phe	missense variant	-	NC_000011.10:g.27380943G>A	NCI-TCGA
rs747543228	p.Val262Ala	missense variant	-	NC_000011.10:g.27380940A>G	ExAC,gnomAD
rs1438593725	p.Pro264Arg	missense variant	-	NC_000011.10:g.27380934G>C	gnomAD
rs780762647	p.Ala267Gly	missense variant	-	NC_000011.10:g.27380925G>C	ExAC,gnomAD
rs1238217630	p.Ala267Ser	missense variant	-	NC_000011.10:g.27380926C>A	gnomAD
rs143329908	p.Asp269Glu	missense variant	-	NC_000011.10:g.27380918A>T	ESP,ExAC,gnomAD
rs746741341	p.Gly270Ser	missense variant	-	NC_000011.10:g.27380917C>T	ExAC,gnomAD
rs1325318448	p.Asn271His	missense variant	-	NC_000011.10:g.27380914T>G	TOPMed
rs1313103833	p.Pro272Leu	missense variant	-	NC_000011.10:g.27380910G>A	gnomAD
rs779682678	p.Pro272Ser	missense variant	-	NC_000011.10:g.27380911G>A	ExAC,TOPMed,gnomAD
rs1376342880	p.Thr276Ala	missense variant	-	NC_000011.10:g.27380899T>C	gnomAD
rs1310068048	p.Thr276Ser	missense variant	-	NC_000011.10:g.27380898G>C	gnomAD
rs757191638	p.Ile277Thr	missense variant	-	NC_000011.10:g.27380895A>G	ExAC,gnomAD
rs143341718	p.Ile277Val	missense variant	-	NC_000011.10:g.27380896T>C	ESP,ExAC,TOPMed,gnomAD
rs779631815	p.His278Tyr	missense variant	-	NC_000011.10:g.27380710G>A	ExAC,gnomAD
rs1306895189	p.His278Arg	missense variant	-	NC_000011.10:g.27380709T>C	TOPMed
rs377315081	p.Asp281Gly	missense variant	-	NC_000011.10:g.27380700T>C	ESP
rs149603971	p.Pro283Arg	missense variant	-	NC_000011.10:g.27380694G>C	ESP,ExAC,TOPMed,gnomAD
rs149603971	p.Pro283Leu	missense variant	-	NC_000011.10:g.27380694G>A	ESP,ExAC,TOPMed,gnomAD
COSM926132	p.Pro283His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27380694G>T	NCI-TCGA Cosmic
rs1284415443	p.Val287Leu	missense variant	-	NC_000011.10:g.27380683C>A	TOPMed
rs778693507	p.Ser290Ter	stop gained	-	NC_000011.10:g.27380673G>T	ExAC,gnomAD
rs372950771	p.Ala291Thr	missense variant	-	NC_000011.10:g.27380671C>T	ESP,ExAC,TOPMed,gnomAD
rs1228088722	p.Phe292Ile	missense variant	-	NC_000011.10:g.27380668A>T	TOPMed
rs369372318	p.Asn294Ser	missense variant	-	NC_000011.10:g.27380661T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu295Val	missense variant	-	NC_000011.10:g.27380659A>C	NCI-TCGA
rs1484342153	p.Asp297Gly	missense variant	-	NC_000011.10:g.27380652T>C	TOPMed
rs1219046482	p.Asp297Asn	missense variant	-	NC_000011.10:g.27380653C>T	gnomAD
rs1277504427	p.Leu298Phe	missense variant	-	NC_000011.10:g.27380650G>A	TOPMed,gnomAD
rs756007479	p.Ile303Thr	missense variant	-	NC_000011.10:g.27380334A>G	ExAC,gnomAD
rs200212084	p.Arg304Cys	missense variant	-	NC_000011.10:g.27380332G>A	ExAC,gnomAD
rs780334452	p.Arg304Leu	missense variant	-	NC_000011.10:g.27380331C>A	ExAC,TOPMed,gnomAD
rs780334452	p.Arg304His	missense variant	-	NC_000011.10:g.27380331C>T	ExAC,TOPMed,gnomAD
rs374994542	p.Met308Val	missense variant	-	NC_000011.10:g.27380320T>C	ESP,ExAC,gnomAD
rs1330154221	p.Met308Ile	missense variant	-	NC_000011.10:g.27380318C>T	gnomAD
rs750714025	p.Gln310Arg	missense variant	-	NC_000011.10:g.27380313T>C	ExAC,TOPMed,gnomAD
rs750714025	p.Gln310Leu	missense variant	-	NC_000011.10:g.27380313T>A	ExAC,TOPMed,gnomAD
rs138266389	p.Gln311His	missense variant	-	NC_000011.10:g.27380309C>G	ESP,ExAC,TOPMed,gnomAD
rs762186717	p.Asn314Asp	missense variant	-	NC_000011.10:g.27380302T>C	ExAC,gnomAD
rs375937843	p.Asn314Ser	missense variant	-	NC_000011.10:g.27380301T>C	TOPMed
rs558229406	p.Thr316Lys	missense variant	-	NC_000011.10:g.27380295G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs754184739	p.Thr316Ala	missense variant	-	NC_000011.10:g.27380296T>C	ExAC,gnomAD
rs558229406	p.Thr316Ile	missense variant	-	NC_000011.10:g.27380295G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1401557837	p.Gly317Arg	missense variant	-	NC_000011.10:g.27380293C>G	TOPMed,gnomAD
rs1401557837	p.Gly317Arg	missense variant	-	NC_000011.10:g.27380293C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gly317GluPheSerTerUnk	frameshift	-	NC_000011.10:g.27380292C>-	NCI-TCGA
rs761102295	p.Thr318Ala	missense variant	-	NC_000011.10:g.27380290T>C	ExAC,gnomAD
rs1464796752	p.Thr318Ile	missense variant	-	NC_000011.10:g.27380289G>A	gnomAD
rs1039899418	p.Val319Ile	missense variant	-	NC_000011.10:g.27380287C>T	TOPMed
rs1377311132	p.Val319Ala	missense variant	-	NC_000011.10:g.27380286A>G	gnomAD
rs1199783981	p.His320Gln	missense variant	-	NC_000011.10:g.27380282G>C	gnomAD
rs1456342449	p.His320Asp	missense variant	-	NC_000011.10:g.27380284G>C	TOPMed
rs1458708142	p.Leu321Val	missense variant	-	NC_000011.10:g.27380281G>C	TOPMed,gnomAD
rs575879732	p.Ser323Arg	missense variant	-	NC_000011.10:g.27380273A>T	1000Genomes,ExAC,gnomAD
rs774968337	p.Ser323Cys	missense variant	-	NC_000011.10:g.27380275T>A	ExAC,gnomAD
rs546206909	p.Ser323Asn	missense variant	-	NC_000011.10:g.27380274C>T	1000Genomes,TOPMed
rs75496259	p.Thr327Ala	missense variant	-	NC_000011.10:g.27378761T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3446566	p.Gly328Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27378758C>T	NCI-TCGA Cosmic
rs371742671	p.Thr329Ala	missense variant	-	NC_000011.10:g.27378755T>C	ESP,ExAC,TOPMed,gnomAD
rs770556748	p.Lys330Gln	missense variant	-	NC_000011.10:g.27378752T>G	ExAC,TOPMed,gnomAD
rs770556748	p.Lys330Glu	missense variant	-	NC_000011.10:g.27378752T>C	ExAC,TOPMed,gnomAD
rs1212652633	p.Ile334Leu	missense variant	-	NC_000011.10:g.27378740T>G	gnomAD
rs202211842	p.Pro335Arg	missense variant	-	NC_000011.10:g.27378736G>C	1000Genomes,ExAC,gnomAD
rs370470269	p.Pro335Ser	missense variant	-	NC_000011.10:g.27378737G>A	ESP,ExAC,gnomAD
rs1240276307	p.Cys339Tyr	missense variant	-	NC_000011.10:g.27378724C>T	gnomAD
rs769513710	p.Lys343Arg	missense variant	-	NC_000011.10:g.27378712T>C	ExAC,TOPMed,gnomAD
rs1041005797	p.Lys343Asn	missense variant	-	NC_000011.10:g.27378711C>G	TOPMed
rs748075465	p.Met344Ile	missense variant	-	NC_000011.10:g.27378708C>G	ExAC,TOPMed,gnomAD
rs1340314554	p.Leu345Pro	missense variant	-	NC_000011.10:g.27378706A>G	gnomAD
rs538854301	p.Arg346Thr	missense variant	-	NC_000011.10:g.27378703C>G	1000Genomes,ExAC,gnomAD
rs1296666966	p.Arg346Ser	missense variant	-	NC_000011.10:g.27378702C>G	TOPMed
rs1416944136	p.Thr347Ala	missense variant	-	NC_000011.10:g.27378701T>C	gnomAD
rs1358902317	p.Thr347Ile	missense variant	-	NC_000011.10:g.27378700G>A	TOPMed,gnomAD
COSM4403245	p.Leu350Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27377219A>C	NCI-TCGA Cosmic
rs764964258	p.Leu350Met	missense variant	-	NC_000011.10:g.27377219A>T	ExAC,gnomAD
rs1194018717	p.Asn353Ser	missense variant	-	NC_000011.10:g.27377209T>C	gnomAD
rs1476182391	p.Asn354Ser	missense variant	-	NC_000011.10:g.27377206T>C	gnomAD
rs1451630257	p.Ile355Met	missense variant	-	NC_000011.10:g.27377202T>C	gnomAD
rs1220191630	p.Ile355Val	missense variant	-	NC_000011.10:g.27377204T>C	gnomAD
NCI-TCGA novel	p.Ile355MetPheSerTerUnk	frameshift	-	NC_000011.10:g.27377201_27377202TT>-	NCI-TCGA
rs1216062587	p.Phe361Cys	missense variant	-	NC_000011.10:g.27377185A>C	gnomAD
rs117543292	p.Gly363Cys	missense variant	-	NC_000011.10:g.27377180C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3791426	p.Cys364Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.27377175G>T	NCI-TCGA Cosmic
rs1215465385	p.His365Tyr	missense variant	-	NC_000011.10:g.27377174G>A	gnomAD
rs747002151	p.Ala366Gly	missense variant	-	NC_000011.10:g.27377170G>C	ExAC,gnomAD
rs1480856924	p.Leu367Val	missense variant	-	NC_000011.10:g.27377168G>C	TOPMed
rs1402442768	p.Glu368Gly	missense variant	-	NC_000011.10:g.27377164T>C	TOPMed
rs1435873921	p.Ile370Phe	missense variant	-	NC_000011.10:g.27377159T>A	TOPMed,gnomAD
rs1435873921	p.Ile370Leu	missense variant	-	NC_000011.10:g.27377159T>G	TOPMed,gnomAD
COSM2113372	p.Ser371Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27376368G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser371Phe	missense variant	-	NC_000011.10:g.27376368G>A	NCI-TCGA
rs140395327	p.Arg374Cys	missense variant	-	NC_000011.10:g.27376360G>A	ESP,ExAC,TOPMed,gnomAD
rs371443871	p.Arg374His	missense variant	-	NC_000011.10:g.27376359C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs371443871	p.Arg374Leu	missense variant	-	NC_000011.10:g.27376359C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1298639354	p.Lys381Thr	missense variant	-	NC_000011.10:g.27376338T>G	gnomAD
rs947766444	p.Glu382Lys	missense variant	-	NC_000011.10:g.27376336C>T	TOPMed
rs761570797	p.Glu382Gly	missense variant	-	NC_000011.10:g.27376335T>C	ExAC,gnomAD
rs1396454317	p.Phe385Tyr	missense variant	-	NC_000011.10:g.27376326A>T	gnomAD
rs760631826	p.Gly387Asp	missense variant	-	NC_000011.10:g.27376320C>T	ExAC,gnomAD
COSM3446565	p.Ser390Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27376311G>A	NCI-TCGA Cosmic
rs1178256108	p.Ser390Pro	missense variant	-	NC_000011.10:g.27376312A>G	gnomAD
rs762903356	p.Arg392Ser	missense variant	-	NC_000011.10:g.27376304C>A	ExAC,gnomAD
rs1279376863	p.Asp395His	missense variant	-	NC_000011.10:g.27374045C>G	TOPMed
rs1259900314	p.Leu396Val	missense variant	-	NC_000011.10:g.27374042G>C	gnomAD
rs773272289	p.Arg398Lys	missense variant	-	NC_000011.10:g.27374035C>T	ExAC,TOPMed,gnomAD
rs769897714	p.Ile401Met	missense variant	-	NC_000011.10:g.27374025T>C	ExAC,TOPMed,gnomAD
rs761998521	p.His402Gln	missense variant	-	NC_000011.10:g.27374022A>C	ExAC,gnomAD
rs1468374007	p.Glu403Lys	missense variant	-	NC_000011.10:g.27374021C>T	TOPMed
NCI-TCGA novel	p.Ile404Val	missense variant	-	NC_000011.10:g.27374018T>C	NCI-TCGA
rs1211912065	p.His405Tyr	missense variant	-	NC_000011.10:g.27374015G>A	TOPMed
rs1311875445	p.Ser406Cys	missense variant	-	NC_000011.10:g.27374012T>A	gnomAD
rs1233701317	p.Arg407Gly	missense variant	-	NC_000011.10:g.27374009T>C	gnomAD
rs776781529	p.Ala408Val	missense variant	-	NC_000011.10:g.27374005G>A	ExAC,gnomAD
rs768951554	p.Ala410Gly	missense variant	-	NC_000011.10:g.27373999G>C	ExAC,gnomAD
rs930207138	p.Ala410Thr	missense variant	-	NC_000011.10:g.27374000C>T	TOPMed
rs747267765	p.Thr411Ala	missense variant	-	NC_000011.10:g.27373997T>C	ExAC,gnomAD
rs370534114	p.Leu412Arg	missense variant	-	NC_000011.10:g.27373993A>C	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Gly413Glu	missense variant	-	NC_000011.10:g.27373990C>T	NCI-TCGA
rs772444344	p.Pro414Leu	missense variant	-	NC_000011.10:g.27373987G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro414Ser	missense variant	-	NC_000011.10:g.27373988G>A	NCI-TCGA
rs1455875404	p.Asn417Asp	missense variant	-	NC_000011.10:g.27373979T>C	TOPMed,gnomAD
COSM687628	p.Leu418Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27373975A>C	NCI-TCGA Cosmic
rs778535535	p.Leu418Val	missense variant	-	NC_000011.10:g.27373976G>C	ExAC,TOPMed,gnomAD
rs775713650	p.Val420Leu	missense variant	-	NC_000011.10:g.27373672C>A	ExAC,TOPMed,gnomAD
rs775713650	p.Val420Ile	missense variant	-	NC_000011.10:g.27373672C>T	ExAC,TOPMed,gnomAD
rs552191763	p.Ser421Gly	missense variant	-	NC_000011.10:g.27373669T>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Asn423Ile	missense variant	-	NC_000011.10:g.27373662T>A	NCI-TCGA
rs1172779197	p.Thr426Ser	missense variant	-	NC_000011.10:g.27373653G>C	TOPMed,gnomAD
rs1172779197	p.Thr426Asn	missense variant	-	NC_000011.10:g.27373653G>T	TOPMed,gnomAD
rs369982748	p.Thr430Met	missense variant	-	NC_000011.10:g.27373641G>A	ESP,ExAC,TOPMed,gnomAD
rs777443017	p.Glu431Lys	missense variant	-	NC_000011.10:g.27373639C>T	ExAC,gnomAD
rs372277318	p.Gly432Ser	missense variant	-	NC_000011.10:g.27373636C>T	ESP,ExAC,TOPMed,gnomAD
rs372277318	p.Gly432Cys	missense variant	-	NC_000011.10:g.27373636C>A	ESP,ExAC,TOPMed,gnomAD
COSM4032213	p.Leu433Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27373633G>T	NCI-TCGA Cosmic
rs1236217428	p.Leu433Pro	missense variant	-	NC_000011.10:g.27373632A>G	gnomAD
rs769672645	p.Gln438His	missense variant	-	NC_000011.10:g.27373616T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln438Arg	missense variant	-	NC_000011.10:g.27373617T>C	NCI-TCGA
rs754750270	p.Asn444Ser	missense variant	-	NC_000011.10:g.27373599T>C	ExAC,gnomAD
rs1442384003	p.Lys448Asn	missense variant	-	NC_000011.10:g.27373586T>G	gnomAD
rs766236725	p.Ala450Val	missense variant	-	NC_000011.10:g.27373581G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala450GlyPheSerTerUnk	stop gained	-	NC_000011.10:g.27373581_27373582insATCTCTGTTATCTAAACTCATC	NCI-TCGA
rs564080700	p.Ala452Thr	missense variant	-	NC_000011.10:g.27373576C>T	gnomAD
rs145733785	p.Ala452Val	missense variant	-	NC_000011.10:g.27373575G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs564080700	p.Ala452Pro	missense variant	-	NC_000011.10:g.27373576C>G	gnomAD
rs145733785	p.Ala452Gly	missense variant	-	NC_000011.10:g.27373575G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs764299872	p.Asp455Tyr	missense variant	-	NC_000011.10:g.27373567C>A	ExAC,gnomAD
rs1464717098	p.Asp455Val	missense variant	-	NC_000011.10:g.27373566T>A	gnomAD
rs1455612015	p.Leu459Val	missense variant	-	NC_000011.10:g.27373555G>C	gnomAD
rs1396758062	p.Arg460Ser	missense variant	-	NC_000011.10:g.27372398C>A	TOPMed
rs1243096719	p.Ser461Phe	missense variant	-	NC_000011.10:g.27372396G>A	gnomAD
rs145483270	p.Val464Glu	missense variant	-	NC_000011.10:g.27372387A>T	ESP,TOPMed
rs1365671208	p.Pro465Ser	missense variant	-	NC_000011.10:g.27372385G>A	TOPMed
rs1365671208	p.Pro465Thr	missense variant	-	NC_000011.10:g.27372385G>T	TOPMed
rs1317731692	p.Gln469Glu	missense variant	-	NC_000011.10:g.27372373G>C	TOPMed,gnomAD
rs1288731731	p.Gln469His	missense variant	-	NC_000011.10:g.27372371C>G	TOPMed
rs770231477	p.Cys471Phe	missense variant	-	NC_000011.10:g.27372366C>A	ExAC,gnomAD
rs770231477	p.Cys471Tyr	missense variant	-	NC_000011.10:g.27372366C>T	ExAC,gnomAD
COSM1353335	p.Ala472Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27372364C>T	NCI-TCGA Cosmic
COSM4032212	p.Phe473Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27372360A>T	NCI-TCGA Cosmic
rs1387079528	p.Trp474Leu	missense variant	-	NC_000011.10:g.27372357C>A	gnomAD
rs761318340	p.Gly475Ser	missense variant	-	NC_000011.10:g.27372355C>T	ExAC,gnomAD
rs768283736	p.Ser478Cys	missense variant	-	NC_000011.10:g.27372345G>C	ExAC,gnomAD
rs768283736	p.Ser478Phe	missense variant	-	NC_000011.10:g.27372345G>A	ExAC,gnomAD
rs185732314	p.Tyr479His	missense variant	-	NC_000011.10:g.27372343A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs779793661	p.Tyr479Cys	missense variant	-	NC_000011.10:g.27372342T>C	ExAC,gnomAD
rs12284579	p.Ala480Gly	missense variant	-	NC_000011.10:g.27372339G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs12284579	p.Ala480Val	missense variant	-	NC_000011.10:g.27372339G>A	UniProt,dbSNP
VAR_044530	p.Ala480Val	missense variant	-	NC_000011.10:g.27372339G>A	UniProt
rs12284579	p.Ala480Val	missense variant	-	NC_000011.10:g.27372339G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1448172162	p.Ala480Thr	missense variant	-	NC_000011.10:g.27372340C>T	gnomAD
rs12284579	p.Ala480Glu	missense variant	-	NC_000011.10:g.27372339G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1244635679	p.Asn481Asp	missense variant	-	NC_000011.10:g.27372337T>C	TOPMed
rs1244635679	p.Asn481Tyr	missense variant	-	NC_000011.10:g.27372337T>A	TOPMed
rs778872167	p.Asn483Ile	missense variant	-	NC_000011.10:g.27372330T>A	ExAC,TOPMed,gnomAD
rs757148300	p.Thr484Ile	missense variant	-	NC_000011.10:g.27372327G>A	ExAC,TOPMed,gnomAD
rs1252958677	p.Glu485Gly	missense variant	-	NC_000011.10:g.27372324T>C	TOPMed
COSM6132156	p.Glu485Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27372325C>T	NCI-TCGA Cosmic
rs1472577397	p.Asp486Glu	missense variant	-	NC_000011.10:g.27372320A>T	TOPMed
rs1473460554	p.Asp486Asn	missense variant	-	NC_000011.10:g.27372322C>T	gnomAD
rs752767724	p.Asn487Ser	missense variant	-	NC_000011.10:g.27372318T>C	ExAC,gnomAD
rs781189924	p.Leu489His	missense variant	-	NC_000011.10:g.27372312A>T	ExAC,TOPMed,gnomAD
rs1043026320	p.Gln490His	missense variant	-	NC_000011.10:g.27372308C>G	TOPMed
rs1328246542	p.Asp491Gly	missense variant	-	NC_000011.10:g.27372306T>C	gnomAD
rs766725576	p.His492Asn	missense variant	-	NC_000011.10:g.27372304G>T	ExAC,gnomAD
rs766725576	p.His492Tyr	missense variant	-	NC_000011.10:g.27372304G>A	ExAC,gnomAD
rs750754672	p.Ser493Arg	missense variant	-	NC_000011.10:g.27372299A>C	ExAC,TOPMed,gnomAD
rs763366518	p.Ser493Ile	missense variant	-	NC_000011.10:g.27372300C>A	ExAC,TOPMed,gnomAD
rs763366518	p.Ser493Asn	missense variant	-	NC_000011.10:g.27372300C>T	ExAC,TOPMed,gnomAD
rs1418375233	p.Ala495Ser	missense variant	-	NC_000011.10:g.27372295C>A	gnomAD
NCI-TCGA novel	p.Gln496Pro	missense variant	-	NC_000011.10:g.27372291T>G	NCI-TCGA
rs759170982	p.Thr500Ile	missense variant	-	NC_000011.10:g.27371695G>A	ExAC,TOPMed,gnomAD
rs774195086	p.Ala501Thr	missense variant	-	NC_000011.10:g.27371693C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser508Arg	missense variant	-	NC_000011.10:g.27371670G>T	NCI-TCGA
rs1376741369	p.Thr509Ala	missense variant	-	NC_000011.10:g.27371669T>C	gnomAD
rs944266223	p.Thr509Ser	missense variant	-	NC_000011.10:g.27371668G>C	gnomAD
rs1208264410	p.Asn512Ser	missense variant	-	NC_000011.10:g.27371659T>C	TOPMed
rs773240098	p.His515Arg	missense variant	-	NC_000011.10:g.27371650T>C	ExAC,gnomAD
rs1178165436	p.Ser516Asn	missense variant	-	NC_000011.10:g.27371647C>T	gnomAD
rs1471331772	p.Gln517Glu	missense variant	-	NC_000011.10:g.27371645G>C	gnomAD
rs1033087667	p.Ile520Asn	missense variant	-	NC_000011.10:g.27371635A>T	TOPMed
rs1210398305	p.His521Tyr	missense variant	-	NC_000011.10:g.27371633G>A	gnomAD
rs747024844	p.Cys522Tyr	missense variant	-	NC_000011.10:g.27371629C>T	ExAC,gnomAD
rs780336469	p.Thr523Ala	missense variant	-	NC_000011.10:g.27371627T>C	ExAC,gnomAD
rs1284806866	p.Thr526Arg	missense variant	-	NC_000011.10:g.27371617G>C	gnomAD
rs1164664989	p.Gly527Val	missense variant	-	NC_000011.10:g.27369143C>A	gnomAD
rs1462249348	p.Ala528Ser	missense variant	-	NC_000011.10:g.27369141C>A	gnomAD
rs1370470333	p.Ala528Asp	missense variant	-	NC_000011.10:g.27369140G>T	gnomAD
rs1370470333	p.Ala528Val	missense variant	-	NC_000011.10:g.27369140G>A	gnomAD
rs1293512133	p.Phe529Leu	missense variant	-	NC_000011.10:g.27369136A>T	gnomAD
rs1168565132	p.Lys530Gln	missense variant	-	NC_000011.10:g.27369135T>G	gnomAD
rs747539328	p.Pro531His	missense variant	-	NC_000011.10:g.27369131G>T	gnomAD
rs747539328	p.Pro531Leu	missense variant	-	NC_000011.10:g.27369131G>A	gnomAD
rs772091571	p.Glu533Lys	missense variant	-	NC_000011.10:g.27369126C>T	ExAC,TOPMed,gnomAD
rs778935349	p.Leu536Val	missense variant	-	NC_000011.10:g.27369117G>C	ExAC,gnomAD
rs1252250185	p.Gly537Ala	missense variant	-	NC_000011.10:g.27369113C>G	gnomAD
rs778459302	p.Met540Val	missense variant	-	NC_000011.10:g.27369105T>C	ExAC,TOPMed,gnomAD
rs200626048	p.Arg542His	missense variant	-	NC_000011.10:g.27369098C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200626048	p.Arg542Leu	missense variant	-	NC_000011.10:g.27369098C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1399237711	p.Val545Leu	missense variant	-	NC_000011.10:g.27369090C>A	TOPMed
COSM926128	p.Phe547Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27369082G>T	NCI-TCGA Cosmic
rs780736159	p.Val551Asp	missense variant	-	NC_000011.10:g.27369071A>T	ExAC,gnomAD
rs780736159	p.Val551Ala	missense variant	-	NC_000011.10:g.27369071A>G	ExAC,gnomAD
rs754383451	p.Asn556Ser	missense variant	-	NC_000011.10:g.27369056T>C	ExAC,TOPMed,gnomAD
rs1369470457	p.Val559Phe	missense variant	-	NC_000011.10:g.27369048C>A	TOPMed,gnomAD
rs751116300	p.Leu561Val	missense variant	-	NC_000011.10:g.27369042A>C	ExAC,TOPMed,gnomAD
rs751116300	p.Leu561Ile	missense variant	-	NC_000011.10:g.27369042A>T	ExAC,TOPMed,gnomAD
rs538451022	p.Thr562Lys	missense variant	-	NC_000011.10:g.27369038G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs952168578	p.Thr562Ala	missense variant	-	NC_000011.10:g.27369039T>C	TOPMed,gnomAD
rs762745985	p.Thr563Ala	missense variant	-	NC_000011.10:g.27369036T>C	ExAC,gnomAD
NCI-TCGA novel	p.Phe564Val	missense variant	-	NC_000011.10:g.27369033A>C	NCI-TCGA
rs750215283	p.Ala565Thr	missense variant	-	NC_000011.10:g.27369030C>T	ExAC,TOPMed,gnomAD
rs1170594960	p.Ala565Glu	missense variant	-	NC_000011.10:g.27369029G>T	gnomAD
rs765192487	p.Pro571Ser	missense variant	-	NC_000011.10:g.27369012G>A	ExAC,gnomAD
rs761830490	p.Ser572Leu	missense variant	-	NC_000011.10:g.27369008G>A	ExAC,TOPMed,gnomAD
COSM466702	p.Ser573Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27369005G>A	NCI-TCGA Cosmic
rs768642910	p.Lys574Glu	missense variant	-	NC_000011.10:g.27369003T>C	ExAC,gnomAD
NCI-TCGA novel	p.Phe576Cys	missense variant	-	NC_000011.10:g.27368996A>C	NCI-TCGA
rs1462234311	p.Gly578Ser	missense variant	-	NC_000011.10:g.27368991C>T	TOPMed
rs1183821953	p.Leu579Ser	missense variant	-	NC_000011.10:g.27368987A>G	TOPMed
rs759494168	p.Leu579Phe	missense variant	-	NC_000011.10:g.27368986C>A	ExAC,TOPMed,gnomAD
rs774510969	p.Ile580Leu	missense variant	-	NC_000011.10:g.27368985T>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser581Tyr	missense variant	-	NC_000011.10:g.27368981G>T	NCI-TCGA
rs749550574	p.Val582Leu	missense variant	-	NC_000011.10:g.27368979C>A	ExAC,TOPMed,gnomAD
rs778104650	p.Val582Ala	missense variant	-	NC_000011.10:g.27368978A>G	ExAC,gnomAD
NCI-TCGA novel	p.Val582Ter	stop gained	-	NC_000011.10:g.27368979_27368980insAGAAATCA	NCI-TCGA
rs1462926935	p.Ser583Pro	missense variant	-	NC_000011.10:g.27368976A>G	TOPMed
rs781480626	p.Asn584Asp	missense variant	-	NC_000011.10:g.27368973T>C	ExAC,gnomAD
rs781480626	p.Asn584Tyr	missense variant	-	NC_000011.10:g.27368973T>A	ExAC,gnomAD
rs781480626	p.Asn584His	missense variant	-	NC_000011.10:g.27368973T>G	ExAC,gnomAD
COSM1353334	p.Met587Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27368964T>C	NCI-TCGA Cosmic
rs1397506269	p.Met587Ile	missense variant	-	NC_000011.10:g.27368962C>A	gnomAD
NCI-TCGA novel	p.Gly588Glu	missense variant	-	NC_000011.10:g.27368960C>T	NCI-TCGA
COSM926127	p.Gly592Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27368948C>T	NCI-TCGA Cosmic
rs755535013	p.Ile593Asn	missense variant	-	NC_000011.10:g.27368945A>T	ExAC,gnomAD
rs369900849	p.Thr595Ile	missense variant	-	NC_000011.10:g.27368939G>A	ESP,ExAC,TOPMed,gnomAD
rs369900849	p.Thr595Ser	missense variant	-	NC_000011.10:g.27368939G>C	ESP,ExAC,TOPMed,gnomAD
rs758122005	p.Phe596Ser	missense variant	-	NC_000011.10:g.27368936A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe596Tyr	missense variant	-	NC_000011.10:g.27368936A>T	NCI-TCGA
rs12291757	p.Asp598Glu	missense variant	-	NC_000011.10:g.27368929A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761634295	p.Trp602Ser	missense variant	-	NC_000011.10:g.27368918C>G	ExAC,gnomAD
NCI-TCGA novel	p.Trp602Cys	missense variant	-	NC_000011.10:g.27368917C>A	NCI-TCGA
rs377568358	p.Gly603Ser	missense variant	-	NC_000011.10:g.27368916C>T	ESP,ExAC,TOPMed
rs1419401950	p.Arg604Gly	missense variant	-	NC_000011.10:g.27368913T>C	gnomAD
rs760715826	p.Ala606Thr	missense variant	-	NC_000011.10:g.27368907C>T	ExAC,TOPMed,gnomAD
COSM3809026	p.Ala606Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27368906G>A	NCI-TCGA Cosmic
rs760715826	p.Ala606Pro	missense variant	-	NC_000011.10:g.27368907C>G	ExAC,TOPMed,gnomAD
rs373408874	p.Glu607Asp	missense variant	-	NC_000011.10:g.27368902T>G	ESP,ExAC,gnomAD
rs1383595331	p.Gly609Asp	missense variant	-	NC_000011.10:g.27368897C>T	gnomAD
rs763145885	p.Ile610Leu	missense variant	-	NC_000011.10:g.27368895T>G	ExAC
rs773360974	p.Trp611Arg	missense variant	-	NC_000011.10:g.27368892A>G	ExAC,gnomAD
rs1347785544	p.Thr614Ser	missense variant	-	NC_000011.10:g.27368883T>A	gnomAD
rs770003664	p.Gly615Ser	missense variant	-	NC_000011.10:g.27368880C>T	ExAC,gnomAD
rs1336700032	p.Ser616Asn	missense variant	-	NC_000011.10:g.27368876C>T	gnomAD
rs748467080	p.Ser616Gly	missense variant	-	NC_000011.10:g.27368877T>C	ExAC,TOPMed,gnomAD
rs1290519959	p.Gly617Ser	missense variant	-	NC_000011.10:g.27368874C>T	gnomAD
rs777106298	p.Lys619Arg	missense variant	-	NC_000011.10:g.27368867T>C	ExAC,gnomAD
rs769015281	p.Lys619Asn	missense variant	-	NC_000011.10:g.27368866T>G	ExAC,gnomAD
rs779418604	p.Val620Ala	missense variant	-	NC_000011.10:g.27368864A>G	ExAC,gnomAD
rs560180132	p.Val620Leu	missense variant	-	NC_000011.10:g.27368865C>G	1000Genomes,ExAC,gnomAD
rs757925752	p.Phe623Leu	missense variant	-	NC_000011.10:g.27368856A>G	ExAC,gnomAD
rs1157897556	p.Ala625Pro	missense variant	-	NC_000011.10:g.27368850C>G	gnomAD
NCI-TCGA novel	p.Ala625Val	missense variant	-	NC_000011.10:g.27368849G>A	NCI-TCGA
rs745376796	p.Val626Leu	missense variant	-	NC_000011.10:g.27368847C>G	ExAC,TOPMed,gnomAD
rs745376796	p.Val626Phe	missense variant	-	NC_000011.10:g.27368847C>A	ExAC,TOPMed,gnomAD
rs1262192090	p.Val626Ala	missense variant	-	NC_000011.10:g.27368846A>G	TOPMed
rs778668653	p.Ser628Phe	missense variant	-	NC_000011.10:g.27368840G>A	ExAC,gnomAD
rs756992406	p.Glu630Lys	missense variant	-	NC_000011.10:g.27368835C>T	ExAC,gnomAD
rs935099252	p.Ile633Val	missense variant	-	NC_000011.10:g.27368826T>C	TOPMed,gnomAD
rs551120554	p.Ala639Val	missense variant	-	NC_000011.10:g.27368807G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs755999472	p.Thr640Ala	missense variant	-	NC_000011.10:g.27368805T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr640Pro	missense variant	-	NC_000011.10:g.27368805T>G	NCI-TCGA
rs150703196	p.Glu642Lys	missense variant	-	NC_000011.10:g.27368799C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762950919	p.Arg643Gly	missense variant	-	NC_000011.10:g.27368796T>C	ExAC,gnomAD
rs773307093	p.Arg643Ser	missense variant	-	NC_000011.10:g.27368794T>G	ExAC,gnomAD
rs765427868	p.Leu645Ile	missense variant	-	NC_000011.10:g.27368790A>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu645PhePheSerTerUnkUnk	frameshift	-	NC_000011.10:g.27368788_27368789insA	NCI-TCGA
rs762137826	p.Ser646Tyr	missense variant	-	NC_000011.10:g.27368786G>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp649His	missense variant	-	NC_000011.10:g.27368778C>G	NCI-TCGA
rs562648114	p.Ile650Thr	missense variant	-	NC_000011.10:g.27368774A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1324758058	p.Ile650Val	missense variant	-	NC_000011.10:g.27368775T>C	TOPMed,gnomAD
COSM4816822	p.Met651Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27368770C>G	NCI-TCGA Cosmic
rs1185231929	p.Met651Ile	missense variant	-	NC_000011.10:g.27368770C>T	gnomAD
rs747349225	p.Asn653Ile	missense variant	-	NC_000011.10:g.27368765T>A	ExAC,gnomAD
rs1405683740	p.Gly654Arg	missense variant	-	NC_000011.10:g.27368763C>T	TOPMed
COSM428875	p.Ser656Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27368755G>T	NCI-TCGA Cosmic
rs981837753	p.Ser656Asn	missense variant	-	NC_000011.10:g.27368756C>T	TOPMed
COSM687630	p.Asn657His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27368754T>G	NCI-TCGA Cosmic
rs772737034	p.Asn657Ser	missense variant	-	NC_000011.10:g.27368753T>C	ExAC,gnomAD
rs772737034	p.Asn657Thr	missense variant	-	NC_000011.10:g.27368753T>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu659GlyPheSerTerUnkUnk	frameshift	-	NC_000011.10:g.27368720_27368748AAAAGGGCAGCAACCCGGAACTGTTTGAG>-	NCI-TCGA
rs142006990	p.Lys660Gln	missense variant	-	NC_000011.10:g.27368745T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1164605137	p.Lys660Arg	missense variant	-	NC_000011.10:g.27368744T>C	gnomAD
rs749034512	p.Arg663Trp	missense variant	-	NC_000011.10:g.27368736G>A	ExAC,gnomAD
rs200625629	p.Arg663Gln	missense variant	-	NC_000011.10:g.27368735C>T	ExAC,TOPMed,gnomAD
rs916527662	p.Val664Phe	missense variant	-	NC_000011.10:g.27368733C>A	TOPMed
COSM1561447	p.Ala666ProPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.27368727C>-	NCI-TCGA Cosmic
rs1250405937	p.Leu667Phe	missense variant	-	NC_000011.10:g.27368724G>A	gnomAD
NCI-TCGA novel	p.Leu667Arg	missense variant	-	NC_000011.10:g.27368723A>C	NCI-TCGA
rs148147363	p.Gly672Ala	missense variant	-	NC_000011.10:g.27368708C>G	ESP,ExAC,TOPMed,gnomAD
rs1230225322	p.Thr674Ile	missense variant	-	NC_000011.10:g.27368702G>A	gnomAD
rs1229048489	p.Val675Ile	missense variant	-	NC_000011.10:g.27368700C>T	TOPMed,gnomAD
rs750474195	p.Gly677Ser	missense variant	-	NC_000011.10:g.27368694C>T	ExAC,gnomAD
rs761930240	p.Cys678Tyr	missense variant	-	NC_000011.10:g.27368690C>T	ExAC,gnomAD
COSM257287	p.Phe679Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27368688A>C	NCI-TCGA Cosmic
rs776857032	p.Pro680Leu	missense variant	-	NC_000011.10:g.27368684G>A	ExAC,gnomAD
rs1323778457	p.His683Arg	missense variant	-	NC_000011.10:g.27368675T>C	gnomAD
rs776019185	p.Arg684Thr	missense variant	-	NC_000011.10:g.27368672C>G	ExAC,TOPMed,gnomAD
rs7125959	p.Arg684Gly	missense variant	-	NC_000011.10:g.27368673T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1204908530	p.Gly685Arg	missense variant	-	NC_000011.10:g.27368670C>T	TOPMed
rs1407876071	p.Glu686Gly	missense variant	-	NC_000011.10:g.27368666T>C	TOPMed,gnomAD
rs772683855	p.Glu686Lys	missense variant	-	NC_000011.10:g.27368667C>T	ExAC,gnomAD
rs760160076	p.Tyr687Cys	missense variant	-	NC_000011.10:g.27368663T>C	ExAC,gnomAD
rs1015071415	p.Pro691Thr	missense variant	-	NC_000011.10:g.27368652G>T	TOPMed
rs1015071415	p.Pro691Ser	missense variant	-	NC_000011.10:g.27368652G>A	TOPMed
rs373705614	p.Leu692Phe	missense variant	-	NC_000011.10:g.27368649G>A	ESP,ExAC,TOPMed,gnomAD
COSM3869051	p.Pro695Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27368639G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu700Gly	missense variant	-	NC_000011.10:g.27368624T>C	NCI-TCGA
rs369897268	p.Thr701Met	missense variant	-	NC_000011.10:g.27368621G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM6068296	p.Pro702Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27368619G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro702Leu	missense variant	-	NC_000011.10:g.27368618G>A	NCI-TCGA
rs1404076351	p.Ser703Pro	missense variant	-	NC_000011.10:g.27368616A>G	TOPMed,gnomAD
rs186371194	p.Gly705Glu	missense variant	-	NC_000011.10:g.27368609C>T	1000Genomes
rs545089505	p.Thr707Ala	missense variant	-	NC_000011.10:g.27368604T>C	1000Genomes,ExAC,gnomAD
rs757296851	p.Val708Leu	missense variant	-	NC_000011.10:g.27368601C>G	ExAC,gnomAD
rs34717439	p.Thr709Met	missense variant	-	NC_000011.10:g.27368597G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs34717439	p.Thr709Met	missense variant	-	NC_000011.10:g.27368597G>A	UniProt,dbSNP
VAR_044532	p.Thr709Met	missense variant	-	NC_000011.10:g.27368597G>A	UniProt
rs1307336368	p.Leu710Ser	missense variant	-	NC_000011.10:g.27368594A>G	TOPMed
rs1238836448	p.Asn714Ser	missense variant	-	NC_000011.10:g.27368582T>C	TOPMed
rs1276403434	p.Asn714Tyr	missense variant	-	NC_000011.10:g.27368583T>A	gnomAD
rs1353585591	p.Ser715Pro	missense variant	-	NC_000011.10:g.27368580A>G	gnomAD
rs1329094630	p.Ser715Leu	missense variant	-	NC_000011.10:g.27368579G>A	TOPMed,gnomAD
rs774938975	p.Ala717Gly	missense variant	-	NC_000011.10:g.27368573G>C	ExAC,TOPMed,gnomAD
COSM1353332	p.Leu719Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27368568A>C	NCI-TCGA Cosmic
rs1434646286	p.Leu720Ile	missense variant	-	NC_000011.10:g.27368565A>T	gnomAD
rs1193305961	p.Met721Thr	missense variant	-	NC_000011.10:g.27368561A>G	gnomAD
COSM3446563	p.Ala722Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27368558G>C	NCI-TCGA Cosmic
rs74893278	p.Val723Asp	missense variant	-	NC_000011.10:g.27368555A>T	gnomAD
rs74893278	p.Val723Gly	missense variant	-	NC_000011.10:g.27368555A>C	gnomAD
rs762481038	p.Val723Ile	missense variant	-	NC_000011.10:g.27368556C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val723Phe	missense variant	-	NC_000011.10:g.27368556C>A	NCI-TCGA
rs769460322	p.Lys727Arg	missense variant	-	NC_000011.10:g.27368543T>C	ExAC,gnomAD
rs2447997	p.Lys727Asn	missense variant	-	NC_000011.10:g.27368542T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs768385937	p.Tyr729His	missense variant	-	NC_000011.10:g.27368538A>G	ExAC,gnomAD
rs1157030509	p.Asn731His	missense variant	-	NC_000011.10:g.27368532T>G	TOPMed
NCI-TCGA novel	p.Lys734Ter	stop gained	-	NC_000011.10:g.27368523T>A	NCI-TCGA
rs1386892600	p.Ser738Pro	missense variant	-	NC_000011.10:g.27368511A>G	TOPMed
rs780003296	p.Ser743Cys	missense variant	-	NC_000011.10:g.27368495G>C	ExAC,gnomAD
rs1311778017	p.Met745Arg	missense variant	-	NC_000011.10:g.27368489A>C	TOPMed,gnomAD
rs758290426	p.Ile746Thr	missense variant	-	NC_000011.10:g.27368486A>G	ExAC,gnomAD
rs1325634609	p.His748Tyr	missense variant	-	NC_000011.10:g.27368481G>A	gnomAD
rs149204548	p.Ala750Thr	missense variant	-	NC_000011.10:g.27368475C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1160295111	p.Phe754Leu	missense variant	-	NC_000011.10:g.27368463A>G	gnomAD
rs753024425	p.Asn756Ser	missense variant	-	NC_000011.10:g.27368456T>C	ExAC,gnomAD
rs759910528	p.Ile758Val	missense variant	-	NC_000011.10:g.27368451T>C	ExAC,gnomAD
rs752000561	p.Cys761Ser	missense variant	-	NC_000011.10:g.27368442A>T	ExAC,gnomAD
rs1239179764	p.Pro762Leu	missense variant	-	NC_000011.10:g.27368438G>A	gnomAD
rs556032916	p.Ala764Val	missense variant	-	NC_000011.10:g.27368432G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1392142756	p.Phe766Ser	missense variant	-	NC_000011.10:g.27368426A>G	gnomAD
COSM4479183	p.Ser767Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27368423G>A	NCI-TCGA Cosmic
COSM6028099	p.Ser767HisPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.27368424A>-	NCI-TCGA Cosmic
rs1332250289	p.Ala769Thr	missense variant	-	NC_000011.10:g.27368418C>T	gnomAD
rs1292266485	p.Ala769Val	missense variant	-	NC_000011.10:g.27368417G>A	gnomAD
rs1380695935	p.Pro770Ser	missense variant	-	NC_000011.10:g.27368415G>A	gnomAD
rs1388467483	p.Ile775Phe	missense variant	-	NC_000011.10:g.27368400T>A	gnomAD
rs1459112932	p.Ser776Cys	missense variant	-	NC_000011.10:g.27368396G>C	gnomAD
rs1321685126	p.Ser776Pro	missense variant	-	NC_000011.10:g.27368397A>G	gnomAD
rs150174926	p.Ile777Val	missense variant	-	NC_000011.10:g.27368394T>C	ESP,ExAC,TOPMed,gnomAD
rs1424540145	p.Ile777Thr	missense variant	-	NC_000011.10:g.27368393A>G	gnomAD
rs746758068	p.Pro779Ala	missense variant	-	NC_000011.10:g.27368388G>C	ExAC,gnomAD
COSM3869050	p.Pro779Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27368388G>A	NCI-TCGA Cosmic
rs775198460	p.Glu780Lys	missense variant	-	NC_000011.10:g.27368385C>T	ExAC,TOPMed,gnomAD
rs1466944806	p.Ile781Met	missense variant	-	NC_000011.10:g.27368380T>C	gnomAD
rs772014305	p.Lys783Arg	missense variant	-	NC_000011.10:g.27368375T>C	ExAC,gnomAD
COSM542327	p.Ser784Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27368372G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser784Tyr	missense variant	-	NC_000011.10:g.27368372G>T	NCI-TCGA
rs1323083852	p.Thr786Ile	missense variant	-	NC_000011.10:g.27368366G>A	gnomAD
rs745859717	p.Thr786Ser	missense variant	-	NC_000011.10:g.27368367T>A	ExAC,gnomAD
rs1292833778	p.Leu787Val	missense variant	-	NC_000011.10:g.27368364G>C	gnomAD
rs199575399	p.Pro791Gln	missense variant	-	NC_000011.10:g.27368351G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1392733766	p.Pro793Ser	missense variant	-	NC_000011.10:g.27368346G>A	gnomAD
rs140875391	p.Ala794Pro	missense variant	-	NC_000011.10:g.27368343C>G	ESP,ExAC,TOPMed,gnomAD
COSM3446562	p.Pro798Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27368331G>A	NCI-TCGA Cosmic
rs1351793855	p.Pro798Ala	missense variant	-	NC_000011.10:g.27368331G>C	gnomAD
NCI-TCGA novel	p.Leu800Pro	missense variant	-	NC_000011.10:g.27368324A>G	NCI-TCGA
NCI-TCGA novel	p.Tyr801His	missense variant	-	NC_000011.10:g.27368322A>G	NCI-TCGA
rs1390749728	p.Val802Ile	missense variant	-	NC_000011.10:g.27368319C>T	gnomAD
rs755269708	p.Phe803Ser	missense variant	-	NC_000011.10:g.27368315A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe803SerPheSerTerUnkUnk	frameshift	-	NC_000011.10:g.27368315A>-	NCI-TCGA
rs1252159538	p.Asn805Lys	missense variant	-	NC_000011.10:g.27368308G>T	gnomAD
rs766724360	p.Lys807Asn	missense variant	-	NC_000011.10:g.27368302C>A	ExAC,gnomAD
rs1445078206	p.Asp811Asn	missense variant	-	NC_000011.10:g.27368292C>T	TOPMed
rs1489277706	p.Trp812Cys	missense variant	-	NC_000011.10:g.27368287C>G	gnomAD
rs758935182	p.Lys813Arg	missense variant	-	NC_000011.10:g.27368285T>C	ExAC
rs1407541151	p.Lys816Glu	missense variant	-	NC_000011.10:g.27368277T>C	gnomAD
COSM3375769	p.Arg817Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.27368274G>A	NCI-TCGA Cosmic
rs147618701	p.Arg817Gln	missense variant	-	NC_000011.10:g.27368273C>T	ESP,ExAC,TOPMed,gnomAD
rs765573173	p.Arg818His	missense variant	-	NC_000011.10:g.27368270C>T	TOPMed,gnomAD
rs765781282	p.Arg818Cys	missense variant	-	NC_000011.10:g.27368271G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser823ValPheSerTerUnkUnk	frameshift	-	NC_000011.10:g.27368256T>-	NCI-TCGA
rs1301051782	p.Ser825Leu	missense variant	-	NC_000011.10:g.27368249G>A	gnomAD
rs1370066317	p.Ser827Ala	missense variant	-	NC_000011.10:g.27368244A>C	gnomAD
rs1171003651	p.Ile830Phe	missense variant	-	NC_000011.10:g.27368235T>A	TOPMed
rs763715371	p.Ile830Thr	missense variant	-	NC_000011.10:g.27368234A>G	ExAC,gnomAD
rs1171003651	p.Ile830Val	missense variant	-	NC_000011.10:g.27368235T>C	TOPMed
rs760361424	p.Ser831Asn	missense variant	-	NC_000011.10:g.27368231C>T	ExAC,gnomAD
rs566468357	p.Tyr842Cys	missense variant	-	NC_000011.10:g.27368198T>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Tyr842Phe	missense variant	-	NC_000011.10:g.27368198T>A	NCI-TCGA
COSM6132158	p.Asp844His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27368193C>G	NCI-TCGA Cosmic
rs575009262	p.Asp844Asn	missense variant	-	NC_000011.10:g.27368193C>T	ExAC,gnomAD
rs34804482	p.Asp844Gly	missense variant	-	NC_000011.10:g.27368192T>C	UniProt,dbSNP
VAR_044533	p.Asp844Gly	missense variant	-	NC_000011.10:g.27368192T>C	UniProt
rs34804482	p.Asp844Gly	missense variant	-	NC_000011.10:g.27368192T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777051366	p.Gly846Asp	missense variant	-	NC_000011.10:g.27368186C>T	TOPMed
rs777051366	p.Gly846Ala	missense variant	-	NC_000011.10:g.27368186C>G	TOPMed
rs532791432	p.Met847Thr	missense variant	-	NC_000011.10:g.27368183A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1434668948	p.Met847Leu	missense variant	-	NC_000011.10:g.27368184T>G	gnomAD
rs949238471	p.Ser849Leu	missense variant	-	NC_000011.10:g.27368177G>A	gnomAD
rs1208017492	p.His850Arg	missense variant	-	NC_000011.10:g.27368174T>C	TOPMed,gnomAD
rs781466769	p.His850Tyr	missense variant	-	NC_000011.10:g.27368175G>A	ExAC,TOPMed,gnomAD
rs747257145	p.Gly853Ser	missense variant	-	NC_000011.10:g.27368166C>T	ExAC,gnomAD
rs201752835	p.Asn854Thr	missense variant	-	NC_000011.10:g.27368162T>G	ExAC,gnomAD
rs201752835	p.Asn854Ile	missense variant	-	NC_000011.10:g.27368162T>A	ExAC,gnomAD
rs1409455521	p.Leu855Val	missense variant	-	NC_000011.10:g.27368160G>C	gnomAD
rs1351265659	p.Thr856Asn	missense variant	-	NC_000011.10:g.27368156G>T	gnomAD
rs750833934	p.Cys858Trp	missense variant	-	NC_000011.10:g.27368149G>C	ExAC,gnomAD
NCI-TCGA novel	p.Cys858Ter	stop gained	-	NC_000011.10:g.27368149G>T	NCI-TCGA
rs765685987	p.Asp859Asn	missense variant	-	NC_000011.10:g.27368148C>T	ExAC,TOPMed,gnomAD
rs757810890	p.Glu862Lys	missense variant	-	NC_000011.10:g.27368139C>T	ExAC,TOPMed,gnomAD
rs1467453743	p.Ser863Leu	missense variant	-	NC_000011.10:g.27368135G>A	gnomAD
rs1158073623	p.Phe864Ser	missense variant	-	NC_000011.10:g.27368132A>G	gnomAD
COSM926126	p.Val870Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27368115C>G	NCI-TCGA Cosmic
rs1185221127	p.His874Gln	missense variant	-	NC_000011.10:g.27368101G>T	gnomAD
rs907842553	p.Pro882Arg	missense variant	-	NC_000011.10:g.27368078G>C	TOPMed,gnomAD
rs752231840	p.Ser888Phe	missense variant	-	NC_000011.10:g.27368060G>A	ExAC
rs200364063	p.Pro892Ser	missense variant	-	NC_000011.10:g.27368049G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1484489486	p.Pro892His	missense variant	-	NC_000011.10:g.27368048G>T	gnomAD
COSM926125	p.Glu893Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27368046C>G	NCI-TCGA Cosmic
rs759208288	p.Gly894Val	missense variant	-	NC_000011.10:g.27368042C>A	ExAC,gnomAD
rs920715379	p.Trp896Ter	stop gained	-	NC_000011.10:g.27368035C>T	TOPMed
rs1263683570	p.Asp898Asn	missense variant	-	NC_000011.10:g.27368031C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Cys899Ter	stop gained	-	NC_000011.10:g.27368026_27368027insCAGTCGGACCAGTAGCCCT	NCI-TCGA
rs770966092	p.Ser903Ala	missense variant	-	NC_000011.10:g.27368016A>C	ExAC,TOPMed,gnomAD
rs759405820	p.Ser903Leu	missense variant	-	NC_000011.10:g.27368015G>A	ExAC,TOPMed,gnomAD
rs964878789	p.Ala904Asp	missense variant	-	NC_000011.10:g.27368012G>T	TOPMed
rs768803019	p.His905Tyr	missense variant	-	NC_000011.10:g.27368010G>A	ExAC,gnomAD
rs747119729	p.Ser906Phe	missense variant	-	NC_000011.10:g.27368006G>A	ExAC,TOPMed,gnomAD
rs747119729	p.Ser906Tyr	missense variant	-	NC_000011.10:g.27368006G>T	ExAC,TOPMed,gnomAD
rs780102696	p.Tyr908Cys	missense variant	-	NC_000011.10:g.27368000T>C	ExAC,TOPMed,gnomAD
rs772363532	p.Asp910Gly	missense variant	-	NC_000011.10:g.27367994T>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu911Ter	stop gained	-	NC_000011.10:g.27367992C>A	NCI-TCGA
rs746198507	p.Glu912Gly	missense variant	-	NC_000011.10:g.27367988T>C	ExAC,gnomAD
COSM4929381	p.Glu912Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.27367989C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu912Val	missense variant	-	NC_000011.10:g.27367988T>A	NCI-TCGA
rs1188939963	p.Ser919Gly	missense variant	-	NC_000011.10:g.27367968T>C	gnomAD
rs778266289	p.Gln922His	missense variant	-	NC_000011.10:g.27367957C>G	ExAC,gnomAD
rs956297202	p.Val923Leu	missense variant	-	NC_000011.10:g.27367956C>A	TOPMed
rs1246679194	p.Ala925Thr	missense variant	-	NC_000011.10:g.27367950C>T	TOPMed,gnomAD
rs1208551861	p.Ala925Asp	missense variant	-	NC_000011.10:g.27367949G>T	gnomAD
NCI-TCGA novel	p.Ala925Val	missense variant	-	NC_000011.10:g.27367949G>A	NCI-TCGA
rs148729565	p.Arg928Gln	missense variant	-	NC_000011.10:g.27367940C>T	ESP,TOPMed,gnomAD
rs1461413137	p.Arg928Ter	stop gained	-	NC_000011.10:g.27367941G>A	-
rs752281610	p.Ala929Val	missense variant	-	NC_000011.10:g.27367937G>A	ExAC,TOPMed,gnomAD
rs752281610	p.Ala929Asp	missense variant	-	NC_000011.10:g.27367937G>T	ExAC,TOPMed,gnomAD
rs767025843	p.Tyr932Cys	missense variant	-	NC_000011.10:g.27367928T>C	ExAC,TOPMed,gnomAD
rs1355837274	p.Gln933Arg	missense variant	-	NC_000011.10:g.27367925T>C	gnomAD
rs1218898681	p.Gln933His	missense variant	-	NC_000011.10:g.27367924C>G	TOPMed
rs1284861073	p.Ser934Asn	missense variant	-	NC_000011.10:g.27367922C>T	gnomAD
rs1276687021	p.Gly936Arg	missense variant	-	NC_000011.10:g.27367917C>G	TOPMed
rs1247034391	p.Phe937Tyr	missense variant	-	NC_000011.10:g.27367913A>T	TOPMed,gnomAD
rs1324665139	p.Pro938Ser	missense variant	-	NC_000011.10:g.27367911G>A	gnomAD
rs751364743	p.Val940Met	missense variant	-	NC_000011.10:g.27367905C>T	ExAC,TOPMed,gnomAD
rs751364743	p.Val940Leu	missense variant	-	NC_000011.10:g.27367905C>G	ExAC,TOPMed,gnomAD
COSM71429	p.Arg941Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27367901C>A	NCI-TCGA Cosmic
rs202048946	p.Arg941His	missense variant	-	NC_000011.10:g.27367901C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201095301	p.Arg941Cys	missense variant	-	NC_000011.10:g.27367902G>A	ESP,ExAC,TOPMed,gnomAD
rs201095301	p.Arg941Ser	missense variant	-	NC_000011.10:g.27367902G>T	ESP,ExAC,TOPMed,gnomAD
rs202048946	p.Arg941Pro	missense variant	-	NC_000011.10:g.27367901C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1429417455	p.Ala943Gly	missense variant	-	NC_000011.10:g.27367895G>C	TOPMed
rs769886057	p.Ala943Pro	missense variant	-	NC_000011.10:g.27367896C>G	ExAC,gnomAD
rs769886057	p.Ala943Thr	missense variant	-	NC_000011.10:g.27367896C>T	ExAC,gnomAD
rs751255974	p.Asn945Ser	missense variant	-	NC_000011.10:g.27367889T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn945ArgPheSerTerUnk	stop gained	-	NC_000011.10:g.27367889_27367890insAAACTTCAGAACTTTTTCACTTTAACCTC	NCI-TCGA
rs183501619	p.Pro947Ser	missense variant	-	NC_000011.10:g.27367884G>A	1000Genomes,ExAC,gnomAD
rs746170706	p.Arg948Gly	missense variant	-	NC_000011.10:g.27367881T>C	ExAC,gnomAD
rs1388907731	p.Val949Ala	missense variant	-	NC_000011.10:g.27367877A>G	TOPMed,gnomAD
rs1388907731	p.Val949Asp	missense variant	-	NC_000011.10:g.27367877A>T	TOPMed,gnomAD
rs779235459	p.Lys950Glu	missense variant	-	NC_000011.10:g.27367875T>C	ExAC,gnomAD
rs771226257	p.Asp951Tyr	missense variant	-	NC_000011.10:g.27367872C>A	ExAC
rs1409693872	p.Ter952Gly	stop lost	-	NC_000011.10:g.27367869A>C	TOPMed

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0003076	Aniridia	disease	BEFREE
C0004364	Autoimmune Diseases	group	BEFREE
C0007137	Squamous cell carcinoma	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0017601	Glaucoma	disease	MGD
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025362	Mental Retardation	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE;LHGDN
C0028754	Obesity	disease	BEFREE
C0153676	Secondary malignant neoplasm of lung	disease	BEFREE
C0206115	WAGR Syndrome	disease	BEFREE
C0243038	Carcinoma, Lewis Lung	disease	BEFREE
C0266999	Vesicular Stomatitis	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0686619	Secondary malignant neoplasm of lymph node	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C2939420	Metastatic Neoplasm	phenotype	BEFREE
C3714756	Intellectual Disability	group	BEFREE
C3714987	BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 17	phenotype	CLINVAR;CTD_human

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004888	transmembrane signaling receptor activity	IDA
GO:0005515	protein binding	IPI
GO:0008528	G protein-coupled peptide receptor activity	IBA
GO:0016500	protein-hormone receptor activity	IEA
GO:0004930	G protein-coupled receptor activity	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001649	osteoblast differentiation	ISS
GO:0001942	hair follicle development	IEA
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA
GO:0007190	activation of adenylate cyclase activity	IBA
GO:0007283	spermatogenesis	ISS
GO:0009755	hormone-mediated signaling pathway	IBA
GO:0030282	bone mineralization	ISS
GO:0030539	male genitalia development	IEA
GO:0032922	circadian regulation of gene expression	ISS
GO:0034122	negative regulation of toll-like receptor signaling pathway	ISS
GO:0036335	intestinal stem cell homeostasis	IEA
GO:0045087	innate immune response	IEA
GO:0045892	negative regulation of transcription, DNA-templated	IEA
GO:0045893	positive regulation of transcription, DNA-templated	IEA
GO:0046849	bone remodeling	ISS
GO:0048565	digestive tract development	IEA
GO:0050710	negative regulation of cytokine secretion	ISS
GO:0061290	canonical Wnt signaling pathway involved in metanephric kidney development	IEA
GO:0072202	cell differentiation involved in metanephros development	IEA
GO:0072224	metanephric glomerulus development	IEA
GO:0072282	metanephric nephron tubule morphogenesis	IEA
GO:0090190	positive regulation of branching involved in ureteric bud morphogenesis	IEA
GO:0090263	positive regulation of canonical Wnt signaling pathway	IDA
GO:0120163	negative regulation of cold-induced thermogenesis	ISS
GO:2001013	epithelial cell proliferation involved in renal tubule morphogenesis	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005886	plasma membrane	TAS
GO:0005887	integral component of plasma membrane	IBA
GO:0005887	integral component of plasma membrane	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-195721	Signaling by WNT	TAS
R-HSA-201681	TCF dependent signaling in response to WNT	TAS
R-HSA-4641263	Regulation of FZD by ubiquitination	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C049325	1,2-dithiol-3-thione	1,2-dithiol-3-thione results in decreased expression of LGR4 mRNA	19162173
C495626	14-deoxy-11,12-didehydroandrographolide	14-deoxy-11,12-didehydroandrographolide results in increased expression of LGR4 mRNA	22101062
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in decreased expression of LGR4 mRNA	28801915
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of LGR4 mRNA	19114083
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in decreased expression of LGR4 mRNA	30723492
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of LGR4 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of LGR4 mRNA	27188386
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 LGR4 mRNA	19150397
D015124	8-Bromo Cyclic Adenosine Monophosphate	8-Bromo Cyclic Adenosine Monophosphate results in increased expression of LGR4 mRNA	20147733
C496492	abrine	abrine results in decreased expression of LGR4 mRNA	31054353
D000082	Acetaminophen	Acetaminophen affects the expression of LGR4 mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of LGR4 gene	27153756
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of LGR4 mRNA	16483693
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of LGR4 mRNA	27829220
D001397	Azoxymethane	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in increased expression of LGR4 mRNA	29950665
C006780	bisphenol A	bisphenol A results in decreased methylation of LGR4 intron	30906313
C006780	bisphenol A	bisphenol A affects the expression of LGR4 mRNA	30903817
C006780	bisphenol A	bisphenol A results in decreased expression of LGR4 mRNA	23146750
C006780	bisphenol A	bisphenol A results in decreased methylation of LGR4 promoter	27312807
C006780	bisphenol A	[bisphenol A co-treated with Estradiol] results in increased expression of LGR4 mRNA	26496021
C006780	bisphenol A	bisphenol A results in decreased expression of LGR4 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased expression of LGR4 mRNA	29097150; 30816183;
D000069286	Bortezomib	[BRCA1 mutant form results in increased susceptibility to Bortezomib] which results in decreased expression of LGR4 mRNA	25522274
C018475	butyraldehyde	butyraldehyde results in decreased expression of LGR4 mRNA	26079696
D002117	Calcitriol	Calcitriol results in increased expression of LGR4 mRNA	16002434
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of LGR4 mRNA	16239168; 31150632;
D002251	Carbon Tetrachloride	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of LGR4 mRNA]	31150632
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of LGR4 mRNA	20938992
C074702	chromium hexavalent ion	chromium hexavalent ion affects the expression of LGR4 mRNA	28472532
D002922	Ciguatoxins	Ciguatoxins affects the expression of LGR4 mRNA	18353800
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in increased expression of LGR4 mRNA	27392435
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of LGR4 mRNA	19549813
D016572	Cyclosporine	Cyclosporine results in decreased expression of LGR4 mRNA	20106945; 25562108;
D016572	Cyclosporine	Cyclosporine results in decreased expression of LGR4 mRNA	19770486
D016264	Dextran Sulfate	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in increased expression of LGR4 mRNA	29950665
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of LGR4 mRNA	21266533
D013196	Dihydrotestosterone	Dihydrotestosterone results in increased expression of LGR4 mRNA	29581250
D004237	Diuron	Diuron results in decreased expression of LGR4 mRNA	21551480
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of LGR4 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of LGR4 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of LGR4 mRNA	29803840
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of LGR4 mRNA	22079256
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in decreased expression of LGR4 mRNA	30165855
D004958	Estradiol	[bisphenol A co-treated with Estradiol] results in increased expression of LGR4 mRNA	26496021
D000431	Ethanol	Ethanol results in increased expression of LGR4 mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of LGR4 mRNA	12655037
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of LGR4 mRNA	29097150
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of LGR4 mRNA	23129252
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in decreased expression of LGR4 mRNA	23649840
D017313	Fenretinide	Fenretinide results in decreased expression of LGR4 mRNA	28973697
D005472	Fluorouracil	Fluorouracil affects the expression of LGR4 mRNA	20421339
D005485	Flutamide	Flutamide results in decreased expression of LGR4 mRNA	24136188
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of LGR4 mRNA	20938992
D006830	Hydralazine	[Hydralazine co-treated with Valproic Acid] results in increased expression of LGR4 mRNA	17183730
C031927	hydroquinone	hydroquinone results in decreased expression of LGR4 mRNA	31256213
D007213	Indomethacin	Indomethacin results in increased expression of LGR4 mRNA	28201806
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in increased expression of LGR4 mRNA	27392435
D000077339	Leflunomide	Leflunomide results in decreased expression of LGR4 mRNA	28988120
C025340	manganese chloride	manganese chloride results in decreased expression of LGR4 mRNA	28801915
D008694	Methamphetamine	Methamphetamine results in increased expression of LGR4 mRNA	19564919
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of LGR4 mRNA	20938992
C013598	methoxyacetic acid	methoxyacetic acid affects the expression of LGR4 mRNA	20421339
C005219	methyl cellosolve	methyl cellosolve results in increased expression of LGR4 mRNA	21061450
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of LGR4 mRNA	26011545
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of LGR4 mRNA	23649840
D008942	Mitoxantrone	LGR4 protein affects the susceptibility to Mitoxantrone	16217747
C016599	mono-(2-ethylhexyl)phthalate	mono-(2-ethylhexyl)phthalate results in decreased expression of LGR4 mRNA	22401849
C028577	monobutyl phthalate	monobutyl phthalate affects the expression of LGR4 mRNA	20421339
C517284	monomethyl phthalate	monomethyl phthalate affects the expression of LGR4 mRNA	26924002
D009532	Nickel	Nickel results in decreased expression of LGR4 mRNA	25583101
C014707	nitrosobenzylmethylamine	nitrosobenzylmethylamine results in decreased expression of LGR4 mRNA	17616710
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid results in decreased expression of LGR4 mRNA	27153767
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of LGR4 mRNA	19162173
D010634	Phenobarbital	Phenobarbital affects the expression of LGR4 mRNA	23091169
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of LGR4 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in decreased expression of LGR4 mRNA	26272509
D010795	Phthalic Acids	Phthalic Acids results in increased expression of LGR4 mRNA	21061450
C006253	pirinixic acid	pirinixic acid results in decreased expression of LGR4 mRNA	19162173
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of LGR4 mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of LGR4 mRNA	22079256
D011192	Potassium Dichromate	Potassium Dichromate results in decreased expression of LGR4 mRNA	23608068
D011374	Progesterone	Progesterone results in increased expression of LGR4 mRNA	23012394
D011794	Quercetin	Quercetin results in decreased expression of LGR4 mRNA	21632981
C015499	schizandrin B	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of LGR4 mRNA]	31150632
C017947	sodium arsenite	sodium arsenite results in decreased expression of LGR4 mRNA	29361514
D000077210	Sunitinib	Sunitinib results in decreased expression of LGR4 mRNA	31533062
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of LGR4 mRNA	22298810
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of LGR4 mRNA	23152189
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of LGR4 mRNA	21215274
C009495	titanium dioxide	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in increased expression of LGR4 mRNA	29950665
C009495	titanium dioxide	titanium dioxide results in increased expression of LGR4 mRNA	29128614; 29264374;
D014212	Tretinoin	Tretinoin affects the expression of LGR4 mRNA	20421339
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of LGR4 mRNA	27188386
C012589	trichostatin A	trichostatin A results in decreased expression of LGR4 mRNA	24935251; 26272509;
C015559	trimellitic anhydride	trimellitic anhydride results in decreased expression of LGR4 mRNA	19042947
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of LGR4 mRNA	26179874
D000077288	Troglitazone	Troglitazone results in decreased expression of LGR4 mRNA	28973697
D014635	Valproic Acid	[Hydralazine co-treated with Valproic Acid] results in increased expression of LGR4 mRNA	17183730
D014635	Valproic Acid	Valproic Acid affects the expression of LGR4 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of LGR4 mRNA	23179753; 28001369;
D014635	Valproic Acid	Valproic Acid results in decreased methylation of LGR4 gene	29154799
D014635	Valproic Acid	Valproic Acid affects the expression of LGR4 mRNA	20421339
D014638	Vanadates	Vanadates results in increased expression of LGR4 mRNA	22714537
C029297	vinylidene chloride	vinylidene chloride results in decreased expression of LGR4 mRNA	26682919

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0090	Biological rhythms
KW-1003	Cell membrane
KW-0217	Developmental protein
KW-0221	Differentiation
KW-1015	Disulfide bond
KW-0297	G-protein coupled receptor
KW-0325	Glycoprotein
KW-0391	Immunity
KW-0399	Innate immunity
KW-0433	Leucine-rich repeat
KW-0472	Membrane
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-0675	Receptor
KW-1185	Reference proteome
KW-0677	Repeat
KW-0732	Signal
KW-0744	Spermatogenesis
KW-0807	Transducer
KW-0812	Transmembrane
KW-1133	Transmembrane helix
KW-0879	Wnt signaling pathway

Interpro

InterPro ID	InterPro Term
IPR000276	GPCR_Rhodpsn
IPR017452	GPCR_Rhodpsn_7TM
IPR002131	Gphrmn_rcpt_fam
IPR001611	Leu-rich_rpt
IPR003591	Leu-rich_rpt_typical-subtyp
IPR032675	LRR_dom_sf
IPR000372	LRRNT

PROSITE

PROSITE ID	PROSITE Term
PS50262	G_PROTEIN_RECEP_F1_2
PS51450	LRR

Pfam

Pfam ID	Pfam Term
PF00001	7tm_1
PF13855	LRR_8
PF01462	LRRNT

Gene: LGR4

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

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