CleftGeneDB-Search

Gene: SIM2

Basic information

Tag	Content
Uniprot ID	Q14190; O60766; Q15470; Q15471; Q15472; Q15473; Q16532; Q2TBD8;
Entrez ID	6493
Genbank protein ID	CAA59261.1; EAX09737.1; AAB62397.1; BAA11108.1; BAA12919.1; BAA07909.1; AAI10445.1; BAA07906.1; BAA07907.1; BAA07908.1; BAA07910.1; AAB62396.1; BAA21489.1; BAA89433.1; CAA05055.1; BAA21490.1;
Genbank nucleotide ID	NM_005069.5; NM_009586.4;
Ensembl protein ID	ENSP00000290399
Ensembl nucleotide ID	ENSG00000159263
Gene name	Single-minded homolog 2
Gene symbol	SIM2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Transcription factor that may be a master gene of CNS development in cooperation with Arnt. It may have pleiotropic effects in the tissues expressed during development.
Sequence	MKEKSKNAAK TRREKENGEF YELAKLLPLP SAITSQLDKA SIIRLTTSYL KMRAVFPEGL 60 GDAWGQPSRA GPLDGVAKEL GSHLLQTLDG FVFVVASDGK IMYISETASV HLGLSQVELT 120 GNSIYEYIHP SDHDEMTAVL TAHQPLHHHL LQEYEIERSF FLRMKCVLAK RNAGLTCSGY 180 KVIHCSGYLK IRQYMLDMSL YDSCYQIVGL VAVGQSLPPS AITEIKLYSN MFMFRASLDL 240 KLIFLDSRVT EVTGYEPQDL IEKTLYHHVH GCDVFHLRYA HHLLLVKGQV TTKYYRLLSK 300 RGGWVWVQSY ATVVHNSRSS RPHCIVSVNY VLTEIEYKEL QLSLEQVSTA KSQDSWRTAL 360 STSQETRKLV KPKNTKMKTK LRTNPYPPQQ YSSFQMDKLE CGQLGNWRAS PPASAAAPPE 420 LQPHSESSDL LYTPSYSLPF SYHYGHFPLD SHVFSSKKPM LPAKFGQPQG SPCEVARFFL 480 STLPASGECQ WHYANPLVPS SSSPAKNPPE PPANTARHSL VPSYEAPAAA VRRFGEDTAP 540 PSFPSCGHYR EEPALGPAKA ARQAARDGAR LALARAAPEC CAPPTPEAPG APAQLPFVLL 600 NYHRVLARRG PLGGAAPAAS GLACAPGGPE AATGALRLRH PSPAATSPPG APLPHYLGAS 660 VIITNGR 667

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 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	Developmental stage	Species	Evidence	Details
1:1 ortholog	SIM2		A0A5F4C0N9			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	SIM2	102179422	A0A452FXM0			Capra hircus	Prediction	More>>
1:1 ortholog	SIM2	6493	Q14190			Homo sapiens	Prediction	More>>
1:1 ortholog	Sim2	20465	Q61079	CPO	E14.5	Mus musculus	Publication	More>>
1:1 ortholog	SIM2	474107	A0A2I3TNB0			Pan troglodytes	Prediction	More>>
1:1 ortholog	SIM2		I3LA51			Sus scrofa	Prediction	More>>
1:1 ortholog	Sim2	304071	D4AA36			Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs760789833	p.Lys4Glu	missense variant	-	NC_000021.9:g.36699756A>G	ExAC,gnomAD
rs764319761	p.Ser5Phe	missense variant	-	NC_000021.9:g.36699760C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser5Cys	missense variant	-	NC_000021.9:g.36699760C>G	NCI-TCGA
rs1404292148	p.Ala8Glu	missense variant	-	NC_000021.9:g.36699769C>A	gnomAD
rs753796262	p.Ala8Ser	missense variant	-	NC_000021.9:g.36699768G>T	ExAC,gnomAD
rs1243082353	p.Ala9Ser	missense variant	-	NC_000021.9:g.36699771G>T	gnomAD
rs1379983560	p.Lys10Glu	missense variant	-	NC_000021.9:g.36699774A>G	gnomAD
rs1317065059	p.Thr11Ile	missense variant	-	NC_000021.9:g.36699778C>T	TOPMed,gnomAD
rs1300261163	p.Arg13Ser	missense variant	-	NC_000021.9:g.36699785G>C	gnomAD
rs1234040313	p.Glu16Lys	missense variant	-	NC_000021.9:g.36699792G>A	gnomAD
rs376678295	p.Gly18Ala	missense variant	-	NC_000021.9:g.36699799G>C	ESP
rs1484544110	p.Glu19Asp	missense variant	-	NC_000021.9:g.36699803G>C	gnomAD
rs750179033	p.Tyr21Ter	stop gained	-	NC_000021.9:g.36699809C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr21ThrPheSerTerUnkUnk	frameshift	-	NC_000021.9:g.36699804T>-	NCI-TCGA
rs758135000	p.Glu22Lys	missense variant	-	NC_000021.9:g.36699810G>A	ExAC,gnomAD
rs1251382646	p.Pro28Leu	missense variant	-	NC_000021.9:g.36699829C>T	gnomAD
rs1453517810	p.Pro30Ser	missense variant	-	NC_000021.9:g.36699834C>T	gnomAD
rs780742769	p.Ser31Leu	missense variant	-	NC_000021.9:g.36699838C>T	ExAC,gnomAD
rs1157467468	p.Ile33Ser	missense variant	-	NC_000021.9:g.36699844T>G	gnomAD
rs940139819	p.Thr34Ile	missense variant	-	NC_000021.9:g.36699847C>T	gnomAD
rs1193953156	p.Thr34Ala	missense variant	-	NC_000021.9:g.36699846A>G	TOPMed
rs1489146556	p.Gln36Lys	missense variant	-	NC_000021.9:g.36699852C>A	TOPMed
rs1323406896	p.Gln36Pro	missense variant	-	NC_000021.9:g.36699853A>C	gnomAD
rs1369819511	p.Asp38Asn	missense variant	-	NC_000021.9:g.36699858G>A	gnomAD
rs535903610	p.Asp38Gly	missense variant	-	NC_000021.9:g.36699859A>G	1000Genomes,ExAC,gnomAD
rs535903610	p.Asp38Ala	missense variant	-	NC_000021.9:g.36699859A>C	1000Genomes,ExAC,gnomAD
rs746201650	p.Lys39Glu	missense variant	-	NC_000021.9:g.36699861A>G	ExAC,gnomAD
rs772347076	p.Ala40Glu	missense variant	-	NC_000021.9:g.36699865C>A	ExAC,TOPMed,gnomAD
COSM1647444	p.Ala40Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.36699865C>T	NCI-TCGA Cosmic
rs772347076	p.Ala40Gly	missense variant	-	NC_000021.9:g.36699865C>G	ExAC,TOPMed,gnomAD
rs1260219040	p.Ser41Cys	missense variant	-	NC_000021.9:g.36699868C>G	gnomAD
rs1267183034	p.Ile42Val	missense variant	-	NC_000021.9:g.36699870A>G	TOPMed
NCI-TCGA novel	p.Arg44His	missense variant	-	NC_000021.9:g.36699877G>A	NCI-TCGA
rs1235145110	p.Leu45Val	missense variant	-	NC_000021.9:g.36699879C>G	TOPMed
rs1235145110	p.Leu45Phe	missense variant	-	NC_000021.9:g.36699879C>T	TOPMed
rs1468233363	p.Thr47Lys	missense variant	-	NC_000021.9:g.36699886C>A	TOPMed,gnomAD
rs1412637502	p.Arg53Leu	missense variant	-	NC_000021.9:g.36699904G>T	gnomAD
rs765158971	p.Arg53Gly	missense variant	-	NC_000021.9:g.36699903C>G	ExAC,gnomAD
rs765158971	p.Arg53Ser	missense variant	-	NC_000021.9:g.36699903C>A	ExAC,gnomAD
rs750361630	p.Ala54Ser	missense variant	-	NC_000021.9:g.36699906G>T	ExAC,gnomAD
rs750361630	p.Ala54Thr	missense variant	-	NC_000021.9:g.36699906G>A	ExAC,gnomAD
rs1458140476	p.Val55Phe	missense variant	-	NC_000021.9:g.36699909G>T	gnomAD
rs1294478906	p.Phe56Leu	missense variant	-	NC_000021.9:g.36699914C>G	gnomAD
COSM5151115	p.Pro57Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.36699916C>T	NCI-TCGA Cosmic
rs751205672	p.Glu58Gln	missense variant	-	NC_000021.9:g.36699918G>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu58Lys	missense variant	-	NC_000021.9:g.36699918G>A	NCI-TCGA
rs1359116083	p.Gly59Asp	missense variant	-	NC_000021.9:g.36709168G>A	gnomAD
rs1021014434	p.Gly61Arg	missense variant	-	NC_000021.9:g.36709173G>A	gnomAD
rs1304703841	p.Asp62Glu	missense variant	-	NC_000021.9:g.36709178C>A	TOPMed,gnomAD
rs369631270	p.Ala63Thr	missense variant	-	NC_000021.9:g.36709179G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs116988298	p.Ala63Glu	missense variant	-	NC_000021.9:g.36709180C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs116988298	p.Ala63Val	missense variant	-	NC_000021.9:g.36709180C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369631270	p.Ala63Ser	missense variant	-	NC_000021.9:g.36709179G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1343962004	p.Trp64Ter	stop gained	-	NC_000021.9:g.36709183G>A	gnomAD
rs141551574	p.Gly65Glu	missense variant	-	NC_000021.9:g.36709186G>A	ESP,ExAC,TOPMed,gnomAD
rs1277772504	p.Gln66His	missense variant	-	NC_000021.9:g.36709190G>T	gnomAD
COSM5151117	p.Pro67Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.36709191C>T	NCI-TCGA Cosmic
rs542050355	p.Pro67Thr	missense variant	-	NC_000021.9:g.36709191C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1341237571	p.Ser68Arg	missense variant	-	NC_000021.9:g.36709196C>A	TOPMed
rs1485336653	p.Arg69Leu	missense variant	-	NC_000021.9:g.36709198G>T	TOPMed,gnomAD
rs1485336653	p.Arg69His	missense variant	-	NC_000021.9:g.36709198G>A	TOPMed,gnomAD
rs773218274	p.Arg69Cys	missense variant	-	NC_000021.9:g.36709197C>T	ExAC,gnomAD
rs146997732	p.Ala70Thr	missense variant	-	NC_000021.9:g.36709200G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146997732	p.Ala70Pro	missense variant	-	NC_000021.9:g.36709200G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1299374054	p.Gly71Arg	missense variant	-	NC_000021.9:g.36709203G>A	TOPMed
rs759275950	p.Pro72Leu	missense variant	-	NC_000021.9:g.36709207C>T	ExAC,gnomAD
rs147646943	p.Pro72Thr	missense variant	-	NC_000021.9:g.36709206C>A	ESP,ExAC,TOPMed,gnomAD
rs752365204	p.Asp74His	missense variant	-	NC_000021.9:g.36709212G>C	ExAC,gnomAD
rs760313844	p.Asp74Gly	missense variant	-	NC_000021.9:g.36709213A>G	ExAC,TOPMed,gnomAD
rs906355246	p.Gly75Ala	missense variant	-	NC_000021.9:g.36709216G>C	TOPMed,gnomAD
rs763647474	p.Gly75Cys	missense variant	-	NC_000021.9:g.36709215G>T	ExAC,TOPMed,gnomAD
rs763647474	p.Gly75Arg	missense variant	-	NC_000021.9:g.36709215G>C	ExAC,TOPMed,gnomAD
rs763647474	p.Gly75Ser	missense variant	-	NC_000021.9:g.36709215G>A	ExAC,TOPMed,gnomAD
rs142133183	p.Val76Asp	missense variant	-	NC_000021.9:g.36709219T>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val76Ile	missense variant	-	NC_000021.9:g.36709218G>A	NCI-TCGA
rs1367653471	p.Lys78Gln	missense variant	-	NC_000021.9:g.36709224A>C	gnomAD
rs1367653471	p.Lys78Ter	stop gained	-	NC_000021.9:g.36709224A>T	gnomAD
rs1274075598	p.Gly81Glu	missense variant	-	NC_000021.9:g.36709234G>A	gnomAD
rs1345607588	p.Ser82Leu	missense variant	-	NC_000021.9:g.36709237C>T	gnomAD
rs752137271	p.His83Asn	missense variant	-	NC_000021.9:g.36709239C>A	ExAC
rs755375895	p.His83Arg	missense variant	-	NC_000021.9:g.36709240A>G	ExAC,TOPMed,gnomAD
rs781731325	p.Leu85Pro	missense variant	-	NC_000021.9:g.36709246T>C	ExAC
rs748384671	p.Gln86His	missense variant	-	NC_000021.9:g.36709250G>T	ExAC
rs747941536	p.Asp89Val	missense variant	-	NC_000021.9:g.36712540A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly90Glu	missense variant	-	NC_000021.9:g.36712543G>A	NCI-TCGA
COSM478565	p.Phe91Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.36712545T>A	NCI-TCGA Cosmic
rs1341893810	p.Val94Leu	missense variant	-	NC_000021.9:g.36712554G>T	TOPMed
rs1315885122	p.Ala96Pro	missense variant	-	NC_000021.9:g.36712560G>C	TOPMed
COSM5103626	p.Ser97Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.36712564C>T	NCI-TCGA Cosmic
rs570978064	p.Gly99Ala	missense variant	-	NC_000021.9:g.36712570G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs761310285	p.Ile101Thr	missense variant	-	NC_000021.9:g.36712576T>C	ExAC,gnomAD
rs775828168	p.Ile101Val	missense variant	-	NC_000021.9:g.36712575A>G	ExAC,TOPMed,gnomAD
rs775828168	p.Ile101Leu	missense variant	-	NC_000021.9:g.36712575A>C	ExAC,TOPMed,gnomAD
rs764355156	p.Met102Leu	missense variant	-	NC_000021.9:g.36712578A>T	ExAC,gnomAD
rs754146896	p.Met102Ile	missense variant	-	NC_000021.9:g.36712580G>A	ExAC,gnomAD
rs750669602	p.Glu106Lys	missense variant	-	NC_000021.9:g.36712590G>A	ExAC,gnomAD
rs780226998	p.Ala108Thr	missense variant	-	NC_000021.9:g.36712596G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser109Phe	missense variant	-	NC_000021.9:g.36712600C>T	NCI-TCGA
rs1245214424	p.His111Gln	missense variant	-	NC_000021.9:g.36712607T>G	gnomAD
rs1162744955	p.His111Tyr	missense variant	-	NC_000021.9:g.36712605C>T	TOPMed
NCI-TCGA novel	p.Gly113Cys	missense variant	-	NC_000021.9:g.36712611G>T	NCI-TCGA
rs1473215574	p.Leu114Val	missense variant	-	NC_000021.9:g.36712614T>G	TOPMed
rs754882963	p.Ser115Pro	missense variant	-	NC_000021.9:g.36712617T>C	ExAC,gnomAD
rs201508401	p.Val117Gly	missense variant	-	NC_000021.9:g.36719822T>G	ExAC,gnomAD
rs367706494	p.Glu118Ala	missense variant	-	NC_000021.9:g.36719825A>C	ESP,ExAC,TOPMed,gnomAD
rs367706494	p.Glu118Gly	missense variant	-	NC_000021.9:g.36719825A>G	ESP,ExAC,TOPMed,gnomAD
rs748878245	p.Thr120Lys	missense variant	-	NC_000021.9:g.36719831C>A	ExAC,TOPMed,gnomAD
rs748878245	p.Thr120Met	missense variant	-	NC_000021.9:g.36719831C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly121Ser	missense variant	-	NC_000021.9:g.36719833G>A	NCI-TCGA
NCI-TCGA novel	p.Asn122Ser	missense variant	-	NC_000021.9:g.36719837A>G	NCI-TCGA
rs377259454	p.Ser123Asn	missense variant	-	NC_000021.9:g.36719840G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs377259454	p.Ser123Thr	missense variant	-	NC_000021.9:g.36719840G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1466628189	p.Ile124Met	missense variant	-	NC_000021.9:g.36719844T>G	gnomAD
rs1380093088	p.Tyr127Ter	stop gained	-	NC_000021.9:g.36719853C>A	TOPMed
rs1363326518	p.Ser131Cys	missense variant	-	NC_000021.9:g.36719864C>G	gnomAD
NCI-TCGA novel	p.Ser131Tyr	missense variant	-	NC_000021.9:g.36719864C>A	NCI-TCGA
rs770143168	p.Asp132Glu	missense variant	-	NC_000021.9:g.36719868C>A	ExAC,gnomAD
rs143502924	p.Asp134Glu	missense variant	-	NC_000021.9:g.36719874T>A	ESP,ExAC,TOPMed,gnomAD
rs143502924	p.Asp134Glu	missense variant	-	NC_000021.9:g.36719874T>G	ESP,ExAC,TOPMed,gnomAD
rs149282278	p.Asp134Asn	missense variant	-	NC_000021.9:g.36719872G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1370048859	p.Glu135Gly	missense variant	-	NC_000021.9:g.36719876A>G	TOPMed
rs1426867988	p.Met136Ile	missense variant	-	NC_000021.9:g.36719880G>A	TOPMed
rs137857829	p.Met136Val	missense variant	-	NC_000021.9:g.36719878A>G	ESP,ExAC,gnomAD
rs767744188	p.Thr137Pro	missense variant	-	NC_000021.9:g.36719881A>C	ExAC,gnomAD
rs1204988525	p.Thr137Ser	missense variant	-	NC_000021.9:g.36719882C>G	gnomAD
rs767744188	p.Thr137Ala	missense variant	-	NC_000021.9:g.36719881A>G	ExAC,gnomAD
rs565925240	p.Ala138Thr	missense variant	-	NC_000021.9:g.36719884G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1188344982	p.Val139Leu	missense variant	-	NC_000021.9:g.36719887G>C	TOPMed,gnomAD
rs1188344982	p.Val139Ile	missense variant	-	NC_000021.9:g.36719887G>A	TOPMed,gnomAD
rs764141721	p.Leu140Phe	missense variant	-	NC_000021.9:g.36719890C>T	ExAC,TOPMed,gnomAD
rs757035784	p.Thr141Pro	missense variant	-	NC_000021.9:g.36719893A>C	ExAC
rs142378405	p.Thr141Met	missense variant	-	NC_000021.9:g.36719894C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs757876159	p.Ala142Pro	missense variant	-	NC_000021.9:g.36719896G>C	ExAC,gnomAD
rs748644588	p.Ala142Gly	missense variant	-	NC_000021.9:g.36719897C>G	ExAC,gnomAD
rs757876159	p.Ala142Ser	missense variant	-	NC_000021.9:g.36719896G>T	ExAC,gnomAD
rs757876159	p.Ala142Thr	missense variant	-	NC_000021.9:g.36719896G>A	ExAC,gnomAD
rs201841801	p.His143Pro	missense variant	-	NC_000021.9:g.36719900A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs201841801	p.His143Arg	missense variant	-	NC_000021.9:g.36719900A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1035614454	p.Pro145Leu	missense variant	-	NC_000021.9:g.36719906C>T	TOPMed,gnomAD
rs767691379	p.His149Asp	missense variant	-	NC_000021.9:g.36719917C>G	ExAC,gnomAD
rs201840539	p.Tyr154Cys	missense variant	-	NC_000021.9:g.36723048A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1360684127	p.Tyr154His	missense variant	-	NC_000021.9:g.36723047T>C	gnomAD
rs757646652	p.Glu155Lys	missense variant	-	NC_000021.9:g.36723050G>A	ExAC,gnomAD
rs374780734	p.Ile156Thr	missense variant	-	NC_000021.9:g.36723054T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs899930382	p.Arg158Lys	missense variant	-	NC_000021.9:g.36723060G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Arg158Met	missense variant	-	NC_000021.9:g.36723060G>T	NCI-TCGA
NCI-TCGA novel	p.Ser159Ter	stop gained	-	NC_000021.9:g.36723063C>A	NCI-TCGA
NCI-TCGA novel	p.Phe160Leu	missense variant	-	NC_000021.9:g.36723067C>G	NCI-TCGA
rs1484555319	p.Leu162Pro	missense variant	-	NC_000021.9:g.36723072T>C	TOPMed
rs772587660	p.Arg163Gln	missense variant	-	NC_000021.9:g.36723075G>A	ExAC,TOPMed,gnomAD
rs932657270	p.Arg163Ter	stop gained	-	NC_000021.9:g.36723074C>T	TOPMed,gnomAD
COSM2844703	p.Met164Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.36723079G>A	NCI-TCGA Cosmic
rs201182592	p.Lys165Arg	missense variant	-	NC_000021.9:g.36723081A>G	ExAC,TOPMed,gnomAD
rs747276342	p.Cys166Arg	missense variant	-	NC_000021.9:g.36723083T>C	ExAC,gnomAD
rs568706800	p.Val167Ile	missense variant	-	NC_000021.9:g.36723086G>A	1000Genomes,ExAC,gnomAD
rs1389505178	p.Val167Ala	missense variant	-	NC_000021.9:g.36723087T>C	gnomAD
rs761970365	p.Leu168Ser	missense variant	-	NC_000021.9:g.36723090T>C	ExAC,gnomAD
rs1047468740	p.Ala169Val	missense variant	-	NC_000021.9:g.36723093C>T	gnomAD
COSM140283	p.Ala169Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.36723092G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg171Gly	missense variant	-	NC_000021.9:g.36723098A>G	NCI-TCGA
rs865950932	p.Asn172Ile	missense variant	-	NC_000021.9:g.36723102A>T	gnomAD
rs865950932	p.Asn172Ser	missense variant	-	NC_000021.9:g.36723102A>G	gnomAD
rs1295789267	p.Ala173Thr	missense variant	-	NC_000021.9:g.36723104G>A	gnomAD
rs1289190977	p.Ala173Val	missense variant	-	NC_000021.9:g.36723105C>T	TOPMed
rs1228880327	p.Gly174Ser	missense variant	-	NC_000021.9:g.36723107G>A	gnomAD
rs751205898	p.Cys177Tyr	missense variant	-	NC_000021.9:g.36723117G>A	ExAC,TOPMed,gnomAD
rs1405064571	p.Cys177Arg	missense variant	-	NC_000021.9:g.36723116T>C	gnomAD
rs1435825728	p.Gly179Glu	missense variant	-	NC_000021.9:g.36723123G>A	TOPMed
rs767211557	p.Gly179Arg	missense variant	-	NC_000021.9:g.36723122G>A	ExAC,TOPMed,gnomAD
rs1264024174	p.Tyr180His	missense variant	-	NC_000021.9:g.36723125T>C	gnomAD
rs1462785003	p.Lys181Glu	missense variant	-	NC_000021.9:g.36723128A>G	gnomAD
rs777886477	p.Val182Ile	missense variant	-	NC_000021.9:g.36726119G>A	ExAC,gnomAD
rs770786806	p.Tyr188Ter	stop gained	-	NC_000021.9:g.36726139C>A	ExAC,gnomAD
COSM1030546	p.Lys190Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.36726145G>T	NCI-TCGA Cosmic
rs1261784778	p.Lys190Arg	missense variant	-	NC_000021.9:g.36726144A>G	TOPMed
rs774302700	p.Arg192Gly	missense variant	-	NC_000021.9:g.36726149A>G	ExAC,TOPMed,gnomAD
rs745602000	p.Gln193Pro	missense variant	-	NC_000021.9:g.36726153A>C	ExAC,gnomAD
rs745602000	p.Gln193Leu	missense variant	-	NC_000021.9:g.36726153A>T	ExAC,gnomAD
rs1378244994	p.Gln193Lys	missense variant	-	NC_000021.9:g.36726152C>A	gnomAD
rs201356831	p.Tyr194His	missense variant	-	NC_000021.9:g.36726155T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs760445487	p.Met195Ile	missense variant	-	NC_000021.9:g.36726160G>A	ExAC,gnomAD
rs761416114	p.Leu196Pro	missense variant	-	NC_000021.9:g.36726162T>C	ExAC,gnomAD
rs573180823	p.Leu196Met	missense variant	-	NC_000021.9:g.36726161C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs752152751	p.Asp197Val	missense variant	-	NC_000021.9:g.36726165A>T	ExAC,gnomAD
COSM1327410	p.Met198Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.36726167A>T	NCI-TCGA Cosmic
rs938510273	p.Met198Val	missense variant	-	NC_000021.9:g.36726167A>G	gnomAD
rs761234368	p.Ser199Ala	missense variant	-	NC_000021.9:g.36726170T>G	TOPMed,gnomAD
rs541928590	p.Ser199Tyr	missense variant	-	NC_000021.9:g.36726171C>A	1000Genomes,ExAC,gnomAD
rs375950373	p.Asp202Asn	missense variant	-	NC_000021.9:g.36726179G>A	ESP,ExAC,TOPMed,gnomAD
rs1385625061	p.Ser203Thr	missense variant	-	NC_000021.9:g.36726182T>A	TOPMed
rs1455411407	p.Gln206Arg	missense variant	-	NC_000021.9:g.36726192A>G	TOPMed
rs777973757	p.Ile207Thr	missense variant	-	NC_000021.9:g.36726195T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val208Glu	missense variant	-	NC_000021.9:g.36726198T>A	NCI-TCGA
rs749326131	p.Val211Met	missense variant	-	NC_000021.9:g.36726206G>A	ExAC,gnomAD
COSM1414007	p.Ala212Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.36726210C>T	NCI-TCGA Cosmic
rs1162991221	p.Ala212Thr	missense variant	-	NC_000021.9:g.36726209G>A	TOPMed
rs942172911	p.Val213Met	missense variant	-	NC_000021.9:g.36726212G>A	TOPMed,gnomAD
rs1029180457	p.Val213Ala	missense variant	-	NC_000021.9:g.36726213T>C	gnomAD
rs745858446	p.Gly214Arg	missense variant	-	NC_000021.9:g.36726215G>C	ExAC,gnomAD
NCI-TCGA novel	p.Gln215Arg	missense variant	-	NC_000021.9:g.36726219A>G	NCI-TCGA
NCI-TCGA novel	p.Gln215His	missense variant	-	NC_000021.9:g.36726220G>C	NCI-TCGA
rs779960078	p.Ser216Leu	missense variant	-	NC_000021.9:g.36726222C>T	ExAC,TOPMed
rs1255017802	p.Leu217Pro	missense variant	-	NC_000021.9:g.36726225T>C	TOPMed,gnomAD
COSM4101484	p.Ala221Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.36726236G>A	NCI-TCGA Cosmic
rs1387652133	p.Ala221Val	missense variant	-	NC_000021.9:g.36726237C>T	gnomAD
rs1428314448	p.Ile222Met	missense variant	-	NC_000021.9:g.36726241C>G	gnomAD
rs938377276	p.Ile222Val	missense variant	-	NC_000021.9:g.36726239A>G	TOPMed
rs1246046128	p.Thr223Ile	missense variant	-	NC_000021.9:g.36726243C>T	TOPMed
rs891443962	p.Glu224Lys	missense variant	-	NC_000021.9:g.36726245G>A	TOPMed,gnomAD
rs891443962	p.Glu224Ter	stop gained	-	NC_000021.9:g.36726245G>T	TOPMed,gnomAD
rs1405574522	p.Ile225Met	missense variant	-	NC_000021.9:g.36726250C>G	gnomAD
rs1301359833	p.Ile225Val	missense variant	-	NC_000021.9:g.36726248A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Tyr228Cys	missense variant	-	NC_000021.9:g.36726258A>G	NCI-TCGA
rs769465266	p.Ser229Gly	missense variant	-	NC_000021.9:g.36726260A>G	ExAC,TOPMed,gnomAD
rs1403085582	p.Asn230Tyr	missense variant	-	NC_000021.9:g.36726263A>T	TOPMed
rs1364860728	p.Met231Ile	missense variant	-	NC_000021.9:g.36726268G>A	TOPMed
rs1433696054	p.Met231Thr	missense variant	-	NC_000021.9:g.36726267T>C	gnomAD
NCI-TCGA novel	p.Phe232Leu	missense variant	-	NC_000021.9:g.36726271C>G	NCI-TCGA
rs760145034	p.Met233Thr	missense variant	-	NC_000021.9:g.36726273T>C	ExAC,TOPMed,gnomAD
rs1282176012	p.Met233Leu	missense variant	-	NC_000021.9:g.36726272A>C	TOPMed,gnomAD
rs374786343	p.Phe234Leu	missense variant	-	NC_000021.9:g.36726277C>G	ESP,ExAC,TOPMed,gnomAD
rs753037602	p.Arg235Thr	missense variant	-	NC_000021.9:g.36726279G>C	ExAC,gnomAD
rs1166311261	p.Ala236Thr	missense variant	-	NC_000021.9:g.36726281G>A	TOPMed
NCI-TCGA novel	p.Ser237Gly	missense variant	-	NC_000021.9:g.36726284A>G	NCI-TCGA
rs962246418	p.Leu240Pro	missense variant	-	NC_000021.9:g.36726294T>C	-
rs1475293979	p.Lys241Gln	missense variant	-	NC_000021.9:g.36726296A>C	TOPMed
rs1461449573	p.Phe244Leu	missense variant	-	NC_000021.9:g.36726307C>G	gnomAD
rs1461449573	p.Phe244Leu	missense variant	-	NC_000021.9:g.36726307C>A	gnomAD
COSM3550560	p.Asp246Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.36726311G>A	NCI-TCGA Cosmic
rs764251505	p.Ser247Cys	missense variant	-	NC_000021.9:g.36726315C>G	ExAC,gnomAD
rs754108387	p.Arg248Gly	missense variant	-	NC_000021.9:g.36726317A>G	ExAC,TOPMed,gnomAD
rs754108387	p.Arg248Trp	missense variant	-	NC_000021.9:g.36726317A>T	ExAC,TOPMed,gnomAD
rs775954129	p.Val249Leu	missense variant	-	NC_000021.9:g.36731046G>T	ExAC,gnomAD
rs1223592964	p.Thr250Ala	missense variant	-	NC_000021.9:g.36731049A>G	gnomAD
rs1285314157	p.Thr250Ser	missense variant	-	NC_000021.9:g.36731050C>G	gnomAD
rs776912680	p.Glu251Lys	missense variant	-	NC_000021.9:g.36731052G>A	ExAC,TOPMed,gnomAD
rs776912680	p.Glu251Gln	missense variant	-	NC_000021.9:g.36731052G>C	ExAC,TOPMed,gnomAD
rs1448088980	p.Val252Met	missense variant	-	NC_000021.9:g.36731055G>A	TOPMed
rs534777844	p.Thr253Arg	missense variant	-	NC_000021.9:g.36731059C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1268770875	p.Thr253Ser	missense variant	-	NC_000021.9:g.36731058A>T	gnomAD
rs534777844	p.Thr253Met	missense variant	-	NC_000021.9:g.36731059C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs763053811	p.Tyr255Cys	missense variant	-	NC_000021.9:g.36731065A>G	ExAC,gnomAD
rs376029267	p.Glu256Asp	missense variant	-	NC_000021.9:g.36731069G>C	ESP,ExAC,TOPMed,gnomAD
rs1409972625	p.Glu256Lys	missense variant	-	NC_000021.9:g.36731067G>A	gnomAD
rs554792457	p.Pro257Leu	missense variant	-	NC_000021.9:g.36731071C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs748943381	p.Glu262Lys	missense variant	-	NC_000021.9:g.36731085G>A	ExAC,gnomAD
rs1431119307	p.Lys263Gln	missense variant	-	NC_000021.9:g.36731088A>C	TOPMed
NCI-TCGA novel	p.Lys263Asn	missense variant	-	NC_000021.9:g.36731090G>T	NCI-TCGA
NCI-TCGA novel	p.Thr264Ala	missense variant	-	NC_000021.9:g.36731091A>G	NCI-TCGA
rs1376044923	p.His267Tyr	missense variant	-	NC_000021.9:g.36731100C>T	gnomAD
rs150823127	p.His268Gln	missense variant	-	NC_000021.9:g.36731105C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1270884705	p.Gly271Asp	missense variant	-	NC_000021.9:g.36731113G>A	gnomAD
rs769091808	p.Gly271Ser	missense variant	-	NC_000021.9:g.36731112G>A	ExAC,TOPMed,gnomAD
rs777141819	p.Cys272Trp	missense variant	-	NC_000021.9:g.36731117C>G	ExAC,TOPMed,gnomAD
rs1234789275	p.Asp273Asn	missense variant	-	NC_000021.9:g.36731118G>A	TOPMed,gnomAD
rs773456534	p.Val274Met	missense variant	-	NC_000021.9:g.36731121G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His276Tyr	missense variant	-	NC_000021.9:g.36731127C>T	NCI-TCGA
rs1446300002	p.Leu277Ile	missense variant	-	NC_000021.9:g.36731130C>A	gnomAD
rs368622558	p.Arg278Ser	missense variant	-	NC_000021.9:g.36731133C>A	ESP,TOPMed,gnomAD
rs368622558	p.Arg278Cys	missense variant	-	NC_000021.9:g.36731133C>T	ESP,TOPMed,gnomAD
rs199502401	p.Arg278His	missense variant	-	NC_000021.9:g.36731134G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs774518103	p.Tyr279His	missense variant	-	NC_000021.9:g.36731136T>C	ExAC,TOPMed,gnomAD
rs774518103	p.Tyr279Asn	missense variant	-	NC_000021.9:g.36731136T>A	ExAC,TOPMed,gnomAD
rs1357031105	p.Ala280Thr	missense variant	-	NC_000021.9:g.36731139G>A	TOPMed,gnomAD
rs1305415601	p.His281Asp	missense variant	-	NC_000021.9:g.36731142C>G	TOPMed
rs767523762	p.His282Gln	missense variant	-	NC_000021.9:g.36731147C>A	ExAC,gnomAD
rs1447452029	p.Val286Met	missense variant	-	NC_000021.9:g.36741722G>A	gnomAD
rs1447452029	p.Val286Leu	missense variant	-	NC_000021.9:g.36741722G>C	gnomAD
rs1266229494	p.Tyr294Ter	stop gained	-	NC_000021.9:g.36741748C>A	gnomAD
rs771464885	p.Tyr294Ser	missense variant	-	NC_000021.9:g.36741747A>C	ExAC,gnomAD
rs779257112	p.Tyr295Cys	missense variant	-	NC_000021.9:g.36741750A>G	ExAC,TOPMed,gnomAD
rs746151538	p.Arg296Trp	missense variant	-	NC_000021.9:g.36741752C>T	ExAC,gnomAD
rs1487720374	p.Arg296Gln	missense variant	-	NC_000021.9:g.36741753G>A	TOPMed
rs766826389	p.Arg301Gln	missense variant	-	NC_000021.9:g.36741768G>A	ExAC,TOPMed,gnomAD
rs772274383	p.Arg301Trp	missense variant	-	NC_000021.9:g.36741767C>T	ExAC,TOPMed,gnomAD
rs776659612	p.Trp304Ter	stop gained	-	NC_000021.9:g.36741777G>A	ExAC,gnomAD
NCI-TCGA novel	p.Trp304Cys	missense variant	-	NC_000021.9:g.36741778G>C	NCI-TCGA
rs375381716	p.Val305Leu	missense variant	-	NC_000021.9:g.36741779G>T	ESP,ExAC,TOPMed,gnomAD
rs750059338	p.Trp306Arg	missense variant	-	NC_000021.9:g.36741782T>C	ExAC,TOPMed,gnomAD
rs1295196712	p.Gln308His	missense variant	-	NC_000021.9:g.36741790G>C	TOPMed
rs201982331	p.Ala311Val	missense variant	-	NC_000021.9:g.36741798C>T	ExAC,TOPMed,gnomAD
rs766072259	p.Ala311Thr	missense variant	-	NC_000021.9:g.36741797G>A	ExAC,TOPMed,gnomAD
rs1259861687	p.Thr312Ile	missense variant	-	NC_000021.9:g.36741801C>T	gnomAD
rs764479895	p.Val313Met	missense variant	-	NC_000021.9:g.36741803G>A	ExAC,gnomAD
rs1289473098	p.Val313Ala	missense variant	-	NC_000021.9:g.36741804T>C	gnomAD
rs754419348	p.His315Gln	missense variant	-	NC_000021.9:g.36741811C>A	ExAC,gnomAD
rs779487146	p.Asn316Asp	missense variant	-	NC_000021.9:g.36741812A>G	ExAC,gnomAD
rs78651590	p.Asn316Thr	missense variant	-	NC_000021.9:g.36741813A>C	ESP,ExAC,TOPMed,gnomAD
rs78651590	p.Asn316Ser	missense variant	-	NC_000021.9:g.36741813A>G	ESP,ExAC,TOPMed,gnomAD
rs780343591	p.Arg318Cys	missense variant	-	NC_000021.9:g.36741818C>T	ExAC,TOPMed,gnomAD
rs747018347	p.Arg318His	missense variant	-	NC_000021.9:g.36741819G>A	ExAC,gnomAD
rs1363642053	p.Ser319Leu	missense variant	-	NC_000021.9:g.36741822C>T	TOPMed,gnomAD
rs1161017750	p.Ser320Phe	missense variant	-	NC_000021.9:g.36741825C>T	TOPMed,gnomAD
rs1364208218	p.Arg321Trp	missense variant	-	NC_000021.9:g.36741827C>T	gnomAD
rs373021150	p.Arg321Gln	missense variant	-	NC_000021.9:g.36741828G>A	ESP,ExAC,TOPMed,gnomAD
rs964410199	p.His323Pro	missense variant	-	NC_000021.9:g.36741834A>C	TOPMed,gnomAD
rs1389950972	p.Cys324Arg	missense variant	-	NC_000021.9:g.36741836T>C	gnomAD
rs748137714	p.Val326Met	missense variant	-	NC_000021.9:g.36741842G>A	ExAC,TOPMed,gnomAD
rs1336176002	p.Ser327Asn	missense variant	-	NC_000021.9:g.36741846G>A	gnomAD
rs200483038	p.Val328Ile	missense variant	-	NC_000021.9:g.36741848G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs200483038	p.Val328Phe	missense variant	-	NC_000021.9:g.36741848G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs765910455	p.Val331Ile	missense variant	-	NC_000021.9:g.36741857G>A	ExAC,TOPMed,gnomAD
rs1342673232	p.Thr333Ala	missense variant	-	NC_000021.9:g.36741863A>G	gnomAD
rs1275137940	p.Thr333Met	missense variant	-	NC_000021.9:g.36741864C>T	TOPMed
rs760284642	p.Glu334Gly	missense variant	-	NC_000021.9:g.36743389A>G	ExAC,TOPMed,gnomAD
rs143650216	p.Glu334Lys	missense variant	-	NC_000021.9:g.36743388G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1041692765	p.Ile335Thr	missense variant	-	NC_000021.9:g.36743392T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Leu340Phe	missense variant	-	NC_000021.9:g.36743406C>T	NCI-TCGA
COSM6161342	p.Ser343Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.36743416C>A	NCI-TCGA Cosmic
rs751005705	p.Glu345Lys	missense variant	-	NC_000021.9:g.36743421G>A	ExAC,TOPMed,gnomAD
rs763202037	p.Glu345Gly	missense variant	-	NC_000021.9:g.36743422A>G	ExAC,gnomAD
rs766822804	p.Val347Leu	missense variant	-	NC_000021.9:g.36743427G>T	ExAC,TOPMed,gnomAD
rs766822804	p.Val347Met	missense variant	-	NC_000021.9:g.36743427G>A	ExAC,TOPMed,gnomAD
rs755157848	p.Thr349Ile	missense variant	-	NC_000021.9:g.36743434C>T	ExAC,gnomAD
rs1359721146	p.Ala350Val	missense variant	-	NC_000021.9:g.36743437C>T	gnomAD
rs968039267	p.Lys351Asn	missense variant	-	NC_000021.9:g.36743441G>C	TOPMed,gnomAD
rs756229321	p.Gln353Pro	missense variant	-	NC_000021.9:g.36743446A>C	ExAC,gnomAD
rs756229321	p.Gln353Arg	missense variant	-	NC_000021.9:g.36743446A>G	ExAC,gnomAD
rs570532752	p.Asp354Asn	missense variant	-	NC_000021.9:g.36743448G>A	1000Genomes,ExAC,gnomAD
COSM1647443	p.Ser355Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.36743452C>T	NCI-TCGA Cosmic
rs893870730	p.Ala359Thr	missense variant	-	NC_000021.9:g.36743463G>A	TOPMed
rs745663760	p.Ser361Pro	missense variant	-	NC_000021.9:g.36743469T>C	ExAC,TOPMed,gnomAD
rs771705646	p.Ser363Leu	missense variant	-	NC_000021.9:g.36743476C>T	ExAC,gnomAD
rs768329415	p.Glu365Ala	missense variant	-	NC_000021.9:g.36743482A>C	ExAC,gnomAD
rs760229622	p.Glu365Gln	missense variant	-	NC_000021.9:g.36743481G>C	ExAC,TOPMed,gnomAD
rs1470146066	p.Arg367Thr	missense variant	-	NC_000021.9:g.36743488G>C	gnomAD
COSM4840683	p.Lys368Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.36743492A>C	NCI-TCGA Cosmic
rs763580102	p.Leu369Val	missense variant	-	NC_000021.9:g.36743493T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu369Ser	missense variant	-	NC_000021.9:g.36743494T>C	NCI-TCGA
NCI-TCGA novel	p.Lys371Asn	missense variant	-	NC_000021.9:g.36743501A>C	NCI-TCGA
rs957792035	p.Asn374His	missense variant	-	NC_000021.9:g.36743508A>C	gnomAD
rs140977260	p.Lys380Gln	missense variant	-	NC_000021.9:g.36743526A>C	1000Genomes,ExAC,gnomAD
rs140977260	p.Lys380Glu	missense variant	-	NC_000021.9:g.36743526A>G	1000Genomes,ExAC,gnomAD
rs1341886759	p.Arg382Ser	missense variant	-	NC_000021.9:g.36743534A>C	gnomAD
rs767698678	p.Asn384Ser	missense variant	-	NC_000021.9:g.36743539A>G	ExAC,TOPMed,gnomAD
rs985203326	p.Pro385Arg	missense variant	-	NC_000021.9:g.36743542C>G	TOPMed,gnomAD
rs1230643040	p.Pro385Ser	missense variant	-	NC_000021.9:g.36743541C>T	TOPMed,gnomAD
rs1204764843	p.Pro387Ser	missense variant	-	NC_000021.9:g.36743547C>T	TOPMed
rs1439408905	p.Pro387Leu	missense variant	-	NC_000021.9:g.36743548C>T	TOPMed
rs1281252154	p.Pro388Ser	missense variant	-	NC_000021.9:g.36743550C>T	TOPMed,gnomAD
rs1281252154	p.Pro388Ala	missense variant	-	NC_000021.9:g.36743550C>G	TOPMed,gnomAD
rs370355073	p.Pro388Arg	missense variant	-	NC_000021.9:g.36743551C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370355073	p.Pro388Leu	missense variant	-	NC_000021.9:g.36743551C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370355073	p.Pro388Gln	missense variant	-	NC_000021.9:g.36743551C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753867260	p.Gln389Lys	missense variant	-	NC_000021.9:g.36743553C>A	ExAC,gnomAD
rs747667163	p.Gln390His	missense variant	-	NC_000021.9:g.36744730A>C	ExAC
rs564301769	p.Ser392Gly	missense variant	-	NC_000021.9:g.36744734A>G	1000Genomes,ExAC,gnomAD
rs151185181	p.Ser393Leu	missense variant	-	NC_000021.9:g.36744738C>T	ESP,ExAC,TOPMed,gnomAD
rs774911548	p.Ser393Pro	missense variant	-	NC_000021.9:g.36744737T>C	ExAC,TOPMed,gnomAD
COSM4913292	p.Phe394Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.36744741T>C	NCI-TCGA Cosmic
rs775774217	p.Met396Thr	missense variant	-	NC_000021.9:g.36744747T>C	ExAC,TOPMed,gnomAD
rs1353515472	p.Asp397Asn	missense variant	-	NC_000021.9:g.36744749G>A	gnomAD
rs957666381	p.Cys401Arg	missense variant	-	NC_000021.9:g.36744761T>C	TOPMed,gnomAD
rs957666381	p.Cys401Gly	missense variant	-	NC_000021.9:g.36744761T>G	TOPMed,gnomAD
rs776757125	p.Gly402Ser	missense variant	-	NC_000021.9:g.36744764G>A	ExAC,gnomAD
rs761929874	p.Gly402Val	missense variant	-	NC_000021.9:g.36744765G>T	ExAC,gnomAD
rs375361689	p.Gly405Arg	missense variant	-	NC_000021.9:g.36744773G>C	ESP,ExAC,TOPMed,gnomAD
rs375361689	p.Gly405Arg	missense variant	-	NC_000021.9:g.36744773G>A	ESP,ExAC,TOPMed,gnomAD
rs766430136	p.Asn406Lys	missense variant	-	NC_000021.9:g.36744778C>G	ExAC,TOPMed,gnomAD
rs766430136	p.Asn406Lys	missense variant	-	NC_000021.9:g.36744778C>A	ExAC,TOPMed,gnomAD
rs751348193	p.Ala409Val	missense variant	-	NC_000021.9:g.36744786C>T	ExAC,gnomAD
rs1182955642	p.Ala413Thr	missense variant	-	NC_000021.9:g.36744797G>A	gnomAD
rs976058926	p.Ser414Thr	missense variant	-	NC_000021.9:g.36744801G>C	TOPMed,gnomAD
rs976058926	p.Ser414Asn	missense variant	-	NC_000021.9:g.36744801G>A	TOPMed,gnomAD
rs747816999	p.Ser414Arg	missense variant	-	NC_000021.9:g.36744802C>A	ExAC,gnomAD
rs755648986	p.Ala415Thr	missense variant	-	NC_000021.9:g.36744803G>A	ExAC,TOPMed,gnomAD
rs1410251792	p.Pro418Leu	missense variant	-	NC_000021.9:g.36744813C>T	gnomAD
rs1456866174	p.Pro419Leu	missense variant	-	NC_000021.9:g.36744816C>T	TOPMed
rs777081004	p.Glu420Lys	missense variant	-	NC_000021.9:g.36744818G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu421Met	missense variant	-	NC_000021.9:g.36744821C>A	NCI-TCGA
rs1402964340	p.Gln422Ter	stop gained	-	NC_000021.9:g.36744824C>T	gnomAD
rs1450865810	p.Ser427Arg	missense variant	-	NC_000021.9:g.36744839A>C	gnomAD
rs748810288	p.Asp429Gly	missense variant	-	NC_000021.9:g.36744846A>G	ExAC,TOPMed,gnomAD
rs772521090	p.Tyr432His	missense variant	-	NC_000021.9:g.36744854T>C	ExAC,gnomAD
rs1268421048	p.Thr433Met	missense variant	-	NC_000021.9:g.36744858C>T	gnomAD
rs780571062	p.Thr433Pro	missense variant	-	NC_000021.9:g.36744857A>C	ExAC,gnomAD
rs137945799	p.Pro434Ala	missense variant	-	NC_000021.9:g.36744860C>G	ESP,ExAC,TOPMed,gnomAD
rs137945799	p.Pro434Ser	missense variant	-	NC_000021.9:g.36744860C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro434Gln	missense variant	-	NC_000021.9:g.36744861C>A	NCI-TCGA
rs768947989	p.Ser435Phe	missense variant	-	NC_000021.9:g.36744864C>T	ExAC,gnomAD
rs1202748404	p.Ser437Arg	missense variant	-	NC_000021.9:g.36744871C>A	gnomAD
rs776898056	p.Ser437Asn	missense variant	-	NC_000021.9:g.36744870G>A	ExAC,gnomAD
rs560307495	p.Pro439Ser	missense variant	-	NC_000021.9:g.36744875C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1190933875	p.Phe440Leu	missense variant	-	NC_000021.9:g.36744880C>A	gnomAD
rs770056060	p.Tyr442His	missense variant	-	NC_000021.9:g.36744884T>C	ExAC,TOPMed,gnomAD
rs773103692	p.Tyr444Asp	missense variant	-	NC_000021.9:g.36744890T>G	ExAC,gnomAD
rs763144430	p.Tyr444Ter	stop gained	-	NC_000021.9:g.36744892C>G	ExAC,TOPMed,gnomAD
rs751598467	p.Gly445Arg	missense variant	-	NC_000021.9:g.36744893G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly445Glu	missense variant	-	NC_000021.9:g.36744894G>A	NCI-TCGA
rs759396897	p.His446Arg	missense variant	-	NC_000021.9:g.36744897A>G	ExAC,gnomAD
rs767285576	p.His446Gln	missense variant	-	NC_000021.9:g.36744898C>A	ExAC,TOPMed,gnomAD
rs1269598342	p.Leu449Val	missense variant	-	NC_000021.9:g.36744905C>G	TOPMed
rs1416715629	p.Ser451Pro	missense variant	-	NC_000021.9:g.36744911T>C	gnomAD
rs777505968	p.Val453Ala	missense variant	-	NC_000021.9:g.36744918T>C	ExAC,gnomAD
rs1400648557	p.Val453Ile	missense variant	-	NC_000021.9:g.36744917G>A	gnomAD
rs981471638	p.Phe454Leu	missense variant	-	NC_000021.9:g.36744922C>A	TOPMed
rs948687041	p.Phe454Leu	missense variant	-	NC_000021.9:g.36744920T>C	TOPMed
rs1343814434	p.Ser455Asn	missense variant	-	NC_000021.9:g.36744924G>A	gnomAD
rs1266268454	p.Ser455Gly	missense variant	-	NC_000021.9:g.36744923A>G	gnomAD
rs753307817	p.Ser456Asn	missense variant	-	NC_000021.9:g.36744927G>A	ExAC,gnomAD
rs1256440870	p.Pro459Ser	missense variant	-	NC_000021.9:g.36744935C>T	gnomAD
rs1203365837	p.Met460Val	missense variant	-	NC_000021.9:g.36744938A>G	gnomAD
rs747573399	p.Met460Ile	missense variant	-	NC_000021.9:g.36744940G>A	ExAC,TOPMed,gnomAD
rs780515558	p.Met460Arg	missense variant	-	NC_000021.9:g.36744939T>G	ExAC,TOPMed,gnomAD
rs769059784	p.Leu461Ser	missense variant	-	NC_000021.9:g.36744942T>C	ExAC,gnomAD
rs781341610	p.Pro462Leu	missense variant	-	NC_000021.9:g.36744945C>T	ExAC,TOPMed,gnomAD
rs769858094	p.Ala463Asp	missense variant	-	NC_000021.9:g.36744948C>A	ExAC,gnomAD
rs200359415	p.Gly466Arg	missense variant	-	NC_000021.9:g.36744956G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1420401140	p.Pro468Ser	missense variant	-	NC_000021.9:g.36744962C>T	gnomAD
rs1413156612	p.Gly470Arg	missense variant	-	NC_000021.9:g.36744968G>A	gnomAD
rs1402868860	p.Val475Met	missense variant	-	NC_000021.9:g.36744983G>A	TOPMed,gnomAD
rs1012551396	p.Val475Ala	missense variant	-	NC_000021.9:g.36744984T>C	TOPMed
rs774430209	p.Ala476Val	missense variant	-	NC_000021.9:g.36744987C>T	ExAC,gnomAD
rs759483083	p.Arg477His	missense variant	-	NC_000021.9:g.36744990G>A	ExAC,TOPMed,gnomAD
rs759483083	p.Arg477Pro	missense variant	-	NC_000021.9:g.36744990G>C	ExAC,TOPMed,gnomAD
rs1045455758	p.Arg477Cys	missense variant	-	NC_000021.9:g.36744989C>T	TOPMed
rs368057275	p.Phe478Val	missense variant	-	NC_000021.9:g.36744992T>G	ESP,ExAC,TOPMed,gnomAD
rs746926522	p.Thr482Lys	missense variant	-	NC_000021.9:g.36745005C>A	ExAC,gnomAD
rs2073601	p.Leu483Met	missense variant	-	NC_000021.9:g.36745007C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753537362	p.Pro484Thr	missense variant	-	NC_000021.9:g.36745010C>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala485Val	missense variant	-	NC_000021.9:g.36745014C>T	NCI-TCGA
rs201708628	p.Gly487Ser	missense variant	-	NC_000021.9:g.36745019G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755379484	p.Glu488Gln	missense variant	-	NC_000021.9:g.36745022G>C	ExAC,gnomAD
rs748418447	p.His492Leu	missense variant	-	NC_000021.9:g.36745035A>T	ExAC,TOPMed,gnomAD
rs1457441534	p.Tyr493Cys	missense variant	-	NC_000021.9:g.36745038A>G	gnomAD
rs756553530	p.Asn495Lys	missense variant	-	NC_000021.9:g.36745045C>A	ExAC,gnomAD
rs1393081174	p.Pro496Ala	missense variant	-	NC_000021.9:g.36745046C>G	gnomAD
NCI-TCGA novel	p.Leu497Ter	frameshift	-	NC_000021.9:g.36745045C>-	NCI-TCGA
rs1389474553	p.Val498Leu	missense variant	-	NC_000021.9:g.36745052G>C	gnomAD
rs1017605435	p.Ser500Gly	missense variant	-	NC_000021.9:g.36745058A>G	gnomAD
rs1017605435	p.Ser500Arg	missense variant	-	NC_000021.9:g.36745058A>C	gnomAD
rs571774763	p.Ser501Asn	missense variant	-	NC_000021.9:g.36745062G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs976047465	p.Ser502Leu	missense variant	-	NC_000021.9:g.36745065C>T	TOPMed
COSM4845721	p.Ser503Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.36745068C>A	NCI-TCGA Cosmic
rs1008276838	p.Ser503Thr	missense variant	-	NC_000021.9:g.36745067T>A	TOPMed
rs774516027	p.Asn507Ser	missense variant	-	NC_000021.9:g.36745080A>G	ExAC,gnomAD
rs374048214	p.Pro508Leu	missense variant	-	NC_000021.9:g.36745083C>T	ESP,ExAC,TOPMed,gnomAD
rs367607207	p.Pro511Thr	missense variant	-	NC_000021.9:g.36745091C>A	ESP,ExAC,TOPMed,gnomAD
rs367607207	p.Pro511Ser	missense variant	-	NC_000021.9:g.36745091C>T	ESP,ExAC,TOPMed,gnomAD
rs144394618	p.Pro512Leu	missense variant	-	NC_000021.9:g.36745095C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro512Gln	missense variant	-	NC_000021.9:g.36745095C>A	NCI-TCGA
rs761387486	p.Ala513Val	missense variant	-	NC_000021.9:g.36745098C>T	ExAC,gnomAD
rs776261523	p.Ala513Thr	missense variant	-	NC_000021.9:g.36745097G>A	ExAC,gnomAD
rs548039650	p.Thr515Ile	missense variant	-	NC_000021.9:g.36745104C>T	1000Genomes,ExAC,gnomAD
rs201246885	p.His518Arg	missense variant	-	NC_000021.9:g.36745113A>G	ESP,ExAC,TOPMed,gnomAD
rs377180868	p.Ser519Asn	missense variant	-	NC_000021.9:g.36745116G>A	ESP,TOPMed
rs199788000	p.Leu520Val	missense variant	-	NC_000021.9:g.36745118C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs767876751	p.Val521Met	missense variant	-	NC_000021.9:g.36745121G>A	ExAC,gnomAD
rs1170219838	p.Pro522Arg	missense variant	-	NC_000021.9:g.36745125C>G	gnomAD
rs778635337	p.Ser523Thr	missense variant	-	NC_000021.9:g.36745128G>C	TOPMed
rs778635337	p.Ser523Asn	missense variant	-	NC_000021.9:g.36745128G>A	TOPMed
rs141533294	p.Glu525Lys	missense variant	-	NC_000021.9:g.36745133G>A	ESP,ExAC,gnomAD
rs1332660171	p.Ala526Val	missense variant	-	NC_000021.9:g.36747665C>T	TOPMed,gnomAD
rs201126287	p.Ala526Pro	missense variant	-	NC_000021.9:g.36745136G>C	1000Genomes,ExAC,gnomAD
rs201126287	p.Ala526Thr	missense variant	-	NC_000021.9:g.36745136G>A	1000Genomes,ExAC,gnomAD
rs1445912992	p.Ala528Thr	missense variant	-	NC_000021.9:g.36747670G>A	gnomAD
rs1283739500	p.Ala529Thr	missense variant	-	NC_000021.9:g.36747673G>A	TOPMed,gnomAD
rs1357123420	p.Val531Met	missense variant	-	NC_000021.9:g.36747679G>A	TOPMed,gnomAD
rs1354133101	p.Arg532Ser	missense variant	-	NC_000021.9:g.36747682C>A	TOPMed
rs781082058	p.Arg533Lys	missense variant	-	NC_000021.9:g.36747686G>A	ExAC,gnomAD
rs1213609611	p.Gly535Ser	missense variant	-	NC_000021.9:g.36747691G>A	gnomAD
rs1171900680	p.Gly535Val	missense variant	-	NC_000021.9:g.36747692G>T	TOPMed
rs1171900680	p.Gly535Asp	missense variant	-	NC_000021.9:g.36747692G>A	TOPMed
rs748139645	p.Thr538Asn	missense variant	-	NC_000021.9:g.36747701C>A	ExAC,TOPMed,gnomAD
rs1256360732	p.Thr538Ala	missense variant	-	NC_000021.9:g.36747700A>G	gnomAD
rs748139645	p.Thr538Ile	missense variant	-	NC_000021.9:g.36747701C>T	ExAC,TOPMed,gnomAD
rs1198987612	p.Ala539Thr	missense variant	-	NC_000021.9:g.36747703G>A	gnomAD
rs1480136076	p.Pro541Ala	missense variant	-	NC_000021.9:g.36747709C>G	TOPMed
rs1440696534	p.Ser542Asn	missense variant	-	NC_000021.9:g.36747713G>A	gnomAD
rs1186737604	p.Pro544Thr	missense variant	-	NC_000021.9:g.36747718C>A	gnomAD
rs1237599578	p.Ser545Gly	missense variant	-	NC_000021.9:g.36747721A>G	gnomAD
rs962843194	p.Ser545Asn	missense variant	-	NC_000021.9:g.36747722G>A	TOPMed
rs1313078251	p.His548Gln	missense variant	-	NC_000021.9:g.36747732C>G	gnomAD
rs534725578	p.Arg550Cys	missense variant	-	NC_000021.9:g.36747736C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1461243539	p.Pro553Thr	missense variant	-	NC_000021.9:g.36747745C>A	gnomAD
rs1189825085	p.Pro553His	missense variant	-	NC_000021.9:g.36747746C>A	TOPMed,gnomAD
rs1389727869	p.Ala554Thr	missense variant	-	NC_000021.9:g.36747748G>A	TOPMed
rs868205238	p.Leu555Arg	missense variant	-	NC_000021.9:g.36747752T>G	TOPMed,gnomAD
rs1474501244	p.Pro557Leu	missense variant	-	NC_000021.9:g.36747758C>T	TOPMed,gnomAD
rs1404304390	p.Pro557Ser	missense variant	-	NC_000021.9:g.36747757C>T	TOPMed
rs1402897853	p.Ala558Thr	missense variant	-	NC_000021.9:g.36747760G>A	gnomAD
rs1379857938	p.Ala560Pro	missense variant	-	NC_000021.9:g.36747766G>C	TOPMed
rs1426145386	p.Arg562Cys	missense variant	-	NC_000021.9:g.36747772C>T	gnomAD
rs1417998855	p.Ala564Thr	missense variant	-	NC_000021.9:g.36747778G>A	TOPMed
rs189938535	p.Ala565Pro	missense variant	-	NC_000021.9:g.36747781G>C	1000Genomes,TOPMed,gnomAD
rs189938535	p.Ala565Ser	missense variant	-	NC_000021.9:g.36747781G>T	1000Genomes,TOPMed,gnomAD
rs945492076	p.Ala565Val	missense variant	-	NC_000021.9:g.36747782C>T	TOPMed,gnomAD
rs1435716357	p.Asp567Ala	missense variant	-	NC_000021.9:g.36747788A>C	gnomAD
rs1320271494	p.Gly568Arg	missense variant	-	NC_000021.9:g.36747790G>A	TOPMed,gnomAD
rs1258888022	p.Ala569Gly	missense variant	-	NC_000021.9:g.36747794C>G	TOPMed
rs1236976982	p.Ala572Thr	missense variant	-	NC_000021.9:g.36747802G>A	TOPMed
rs925001201	p.Leu573Pro	missense variant	-	NC_000021.9:g.36747806T>C	TOPMed,gnomAD
rs537108483	p.Arg575His	missense variant	-	NC_000021.9:g.36747812G>A	1000Genomes,TOPMed,gnomAD
rs1396962399	p.Ala576Gly	missense variant	-	NC_000021.9:g.36747815C>G	TOPMed
rs1039097295	p.Pro578Arg	missense variant	-	NC_000021.9:g.36747821C>G	TOPMed
rs1159894761	p.Glu579Gln	missense variant	-	NC_000021.9:g.36747823G>C	TOPMed
rs1442445915	p.Cys580Arg	missense variant	-	NC_000021.9:g.36747826T>C	TOPMed
rs1384203104	p.Cys581Ser	missense variant	-	NC_000021.9:g.36747830G>C	TOPMed
rs1188076889	p.Ala582Pro	missense variant	-	NC_000021.9:g.36747832G>C	TOPMed
rs1219474614	p.Ala582Val	missense variant	-	NC_000021.9:g.36747833C>T	TOPMed,gnomAD
rs997387034	p.Pro584Arg	missense variant	-	NC_000021.9:g.36747839C>G	TOPMed
rs1051594087	p.Thr585Asn	missense variant	-	NC_000021.9:g.36747842C>A	TOPMed
rs1206226416	p.Thr585Ala	missense variant	-	NC_000021.9:g.36747841A>G	gnomAD
rs867614668	p.Pro586Ser	missense variant	-	NC_000021.9:g.36747844C>T	TOPMed,gnomAD
rs1262020642	p.Pro589Gln	missense variant	-	NC_000021.9:g.36747854C>A	gnomAD
rs1342580088	p.Ala591Gly	missense variant	-	NC_000021.9:g.36747860C>G	TOPMed
rs1195377905	p.Ala591Thr	missense variant	-	NC_000021.9:g.36747859G>A	TOPMed,gnomAD
rs963103274	p.Pro592Arg	missense variant	-	NC_000021.9:g.36747863C>G	TOPMed
rs1172534371	p.Ala593Val	missense variant	-	NC_000021.9:g.36747866C>T	gnomAD
rs1477226134	p.Ala593Thr	missense variant	-	NC_000021.9:g.36747865G>A	gnomAD
rs1361704434	p.Gln594Arg	missense variant	-	NC_000021.9:g.36747869A>G	TOPMed
rs1403471995	p.Leu595Val	missense variant	-	NC_000021.9:g.36747871C>G	TOPMed,gnomAD
rs1403471995	p.Leu595Met	missense variant	-	NC_000021.9:g.36747871C>A	TOPMed,gnomAD
rs1436674402	p.Phe597Cys	missense variant	-	NC_000021.9:g.36747878T>G	gnomAD
rs1481530554	p.Val598Leu	missense variant	-	NC_000021.9:g.36747880G>C	gnomAD
rs1296498046	p.Leu599Pro	missense variant	-	NC_000021.9:g.36747884T>C	gnomAD
rs1400896757	p.His603Asn	missense variant	-	NC_000021.9:g.36747895C>A	gnomAD
rs1163418777	p.His603Arg	missense variant	-	NC_000021.9:g.36747896A>G	TOPMed
rs1280305205	p.Arg604Ser	missense variant	-	NC_000021.9:g.36747898C>A	gnomAD
rs1473667741	p.Arg604Pro	missense variant	-	NC_000021.9:g.36747899G>C	TOPMed
rs1428317629	p.Ala607Pro	missense variant	-	NC_000021.9:g.36747907G>C	gnomAD
rs992166681	p.Arg608Gln	missense variant	-	NC_000021.9:g.36747911G>A	TOPMed,gnomAD
rs992166681	p.Arg608Leu	missense variant	-	NC_000021.9:g.36747911G>T	TOPMed,gnomAD
rs959319142	p.Arg608Trp	missense variant	-	NC_000021.9:g.36747910C>T	TOPMed,gnomAD
rs1265234648	p.Arg609Cys	missense variant	-	NC_000021.9:g.36747913C>T	TOPMed
rs1232200191	p.Pro611Leu	missense variant	-	NC_000021.9:g.36747920C>T	TOPMed,gnomAD
rs1489861875	p.Leu612Pro	missense variant	-	NC_000021.9:g.36747923T>C	TOPMed
rs918144853	p.Gly613Arg	missense variant	-	NC_000021.9:g.36747925G>C	TOPMed,gnomAD
rs1227133167	p.Gly613Ala	missense variant	-	NC_000021.9:g.36747926G>C	TOPMed
rs918144853	p.Gly613Trp	missense variant	-	NC_000021.9:g.36747925G>T	TOPMed,gnomAD
rs918144853	p.Gly613Arg	missense variant	-	NC_000021.9:g.36747925G>A	TOPMed,gnomAD
rs1341749650	p.Gly614Val	missense variant	-	NC_000021.9:g.36747929G>T	TOPMed
rs111672468	p.Ala616Thr	missense variant	-	NC_000021.9:g.36747934G>A	gnomAD
rs111672468	p.Ala616Pro	missense variant	-	NC_000021.9:g.36747934G>C	gnomAD
rs967004609	p.Ala618Thr	missense variant	-	NC_000021.9:g.36747940G>A	TOPMed,gnomAD
rs978647781	p.Ala618Asp	missense variant	-	NC_000021.9:g.36747941C>A	TOPMed
rs967004609	p.Ala618Pro	missense variant	-	NC_000021.9:g.36747940G>C	TOPMed,gnomAD
rs1282306789	p.Ala619Thr	missense variant	-	NC_000021.9:g.36747943G>A	TOPMed,gnomAD
rs936411539	p.Ser620Ala	missense variant	-	NC_000021.9:g.36747946T>G	TOPMed
rs1479512535	p.Leu622Val	missense variant	-	NC_000021.9:g.36747952C>G	TOPMed
rs1038823139	p.Cys624Arg	missense variant	-	NC_000021.9:g.36747958T>C	TOPMed
rs1038823139	p.Cys624Gly	missense variant	-	NC_000021.9:g.36747958T>G	TOPMed
rs1205112450	p.Gly628Ser	missense variant	-	NC_000021.9:g.36747970G>A	TOPMed,gnomAD
rs1222177558	p.Glu630Lys	missense variant	-	NC_000021.9:g.36747976G>A	TOPMed
rs1345400260	p.Glu630Gly	missense variant	-	NC_000021.9:g.36747977A>G	TOPMed
rs1378723664	p.Ala631Glu	missense variant	-	NC_000021.9:g.36747980C>A	gnomAD
rs1274977364	p.Ala631Thr	missense variant	-	NC_000021.9:g.36747979G>A	TOPMed
rs1456011609	p.Ala632Glu	missense variant	-	NC_000021.9:g.36747983C>A	TOPMed,gnomAD
rs1456011609	p.Ala632Val	missense variant	-	NC_000021.9:g.36747983C>T	TOPMed,gnomAD
rs1051393062	p.Gly634Arg	missense variant	-	NC_000021.9:g.36747988G>C	TOPMed,gnomAD
rs1402144591	p.Arg637Gly	missense variant	-	NC_000021.9:g.36747997C>G	TOPMed
rs1174233065	p.Arg639Trp	missense variant	-	NC_000021.9:g.36748003C>T	TOPMed
rs886337227	p.Ser642Ile	missense variant	-	NC_000021.9:g.36748013G>T	TOPMed,gnomAD
rs886337227	p.Ser642Thr	missense variant	-	NC_000021.9:g.36748013G>C	TOPMed,gnomAD
rs1173298591	p.Pro643Leu	missense variant	-	NC_000021.9:g.36748016C>T	TOPMed
rs1004828397	p.Ala645Val	missense variant	-	NC_000021.9:g.36748022C>T	TOPMed,gnomAD
rs991788855	p.Thr646Pro	missense variant	-	NC_000021.9:g.36748024A>C	TOPMed,gnomAD
rs991788855	p.Thr646Ala	missense variant	-	NC_000021.9:g.36748024A>G	TOPMed,gnomAD
rs1361896633	p.Pro648Thr	missense variant	-	NC_000021.9:g.36748030C>A	gnomAD
rs1240456842	p.Pro648Leu	missense variant	-	NC_000021.9:g.36748031C>T	TOPMed
rs1469534783	p.Pro649Ala	missense variant	-	NC_000021.9:g.36748033C>G	TOPMed,gnomAD
rs1312180808	p.Pro649Leu	missense variant	-	NC_000021.9:g.36748034C>T	TOPMed
rs1163838903	p.Gly650Arg	missense variant	-	NC_000021.9:g.36748036G>C	gnomAD
rs1366880485	p.Ala651Thr	missense variant	-	NC_000021.9:g.36748039G>A	gnomAD
rs866508702	p.Leu653Val	missense variant	-	NC_000021.9:g.36748045C>G	TOPMed
rs1347853865	p.Leu657Val	missense variant	-	NC_000021.9:g.36748057C>G	TOPMed
rs1422229468	p.Ala659Ser	missense variant	-	NC_000021.9:g.36748063G>T	TOPMed,gnomAD
rs899035225	p.Ala659Val	missense variant	-	NC_000021.9:g.36748064C>T	TOPMed
rs1422229468	p.Ala659Pro	missense variant	-	NC_000021.9:g.36748063G>C	TOPMed,gnomAD
rs371535787	p.Ser660Pro	missense variant	-	NC_000021.9:g.36748066T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1451635508	p.Ile663Thr	missense variant	-	NC_000021.9:g.36748076T>C	TOPMed
rs553422418	p.Gly666Arg	missense variant	-	NC_000021.9:g.36748084G>C	1000Genomes,ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0002395	Alzheimer's Disease	disease	BEFREE
C0006118	Brain Neoplasms	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007095	Carcinoid Tumor	group	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0007124	Noninfiltrating Intraductal Carcinoma	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0008925	Cleft Palate	disease	CTD_human
C0009375	Colonic Neoplasms	group	BEFREE
C0013080	Down Syndrome	disease	BEFREE;LHGDN
C0014772	Red Blood Cell Count measurement	phenotype	GWASCAT
C0017636	Glioblastoma	disease	BEFREE
C0017638	Glioma	disease	BEFREE
C0018935	Hematocrit procedure	phenotype	GWASCAT
C0019569	Hirschsprung Disease	disease	BEFREE
C0025362	Mental Retardation	disease	BEFREE
C0028259	Nodule	phenotype	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0031511	Pheochromocytoma	disease	BEFREE
C0033578	Prostatic Neoplasms	group	BEFREE
C0041107	Trisomy	group	BEFREE
C0079541	Holoprosencephaly	disease	BEFREE
C0153676	Secondary malignant neoplasm of lung	disease	BEFREE
C0233794	Memory impairment	phenotype	BEFREE
C0235974	Pancreatic carcinoma	disease	BEFREE
C0280100	Solid Neoplasm	phenotype	BEFREE
C0334299	Carcinoid tumor no ICD-O subtype	phenotype	BEFREE
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0376634	Craniofacial Abnormalities	group	CTD_human
C0518015	Hemoglobin measurement	phenotype	GWASCAT
C0596263	Carcinogenesis	phenotype	BEFREE
C0598935	Tumor Initiation	phenotype	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0812413	Malignant Pleural Mesothelioma	disease	BEFREE
C0853879	Invasive carcinoma of breast	disease	BEFREE
C1458155	Mammary Neoplasms	group	BEFREE;LHGDN
C1621958	Glioblastoma Multiforme	disease	BEFREE
C1837218	Cleft palate, isolated	disease	CTD_human
C1857230	DISORGANIZATION, MOUSE, HOMOLOG OF	disease	BEFREE
C1860787	DOWN SYNDROME CRITICAL REGION	disease	BEFREE
C1956346	Coronary Artery Disease	disease	BEFREE
C2745900	Promyelocytic leukemia	disease	BEFREE
C2937421	Prostatic Hyperplasia	disease	LHGDN
C3714756	Intellectual Disability	group	BEFREE;LHGDN

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0003677	DNA binding	IEA
GO:0003700	DNA-binding transcription factor activity	TAS
GO:0046982	protein heterodimerization activity	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA
GO:0006357	regulation of transcription by RNA polymerase II	IBA
GO:0007399	nervous system development	IEA
GO:0009880	embryonic pattern specification	IEA
GO:0030154	cell differentiation	IEA
GO:0030324	lung development	IEA
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005634	nucleus	IBA
GO:0005654	nucleoplasm	IDA
GO:0016604	nuclear body	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C511295	2,2',4,4'-tetrabromodiphenyl ether	2,2',4,4'-tetrabromodiphenyl ether results in decreased expression of SIM2 mRNA	27291303
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid 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 SIM2 mRNA	27188386
C496492	abrine	abrine results in increased expression of SIM2 mRNA	31054353
D020106	Acrylamide	Acrylamide affects the expression of SIM2 mRNA	28959563
C029753	aflatoxin B2	aflatoxin B2 results in increased methylation of SIM2 intron	30157460
C015001	arsenite	arsenite results in increased methylation of SIM2 promoter	23974009
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of SIM2 intron	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of SIM2 mRNA	21839799
C026487	benzo(e)pyrene	benzo(e)pyrene results in increased methylation of SIM2 intron	30157460
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in decreased expression of SIM2 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the methylation of SIM2 promoter	27334623
C006780	bisphenol A	[bisphenol A co-treated with Testosterone] results in decreased expression of SIM2 mRNA	26496021
C006780	bisphenol A	bisphenol A results in decreased expression of SIM2 mRNA	25181051
C000611646	bisphenol F	bisphenol F results in decreased expression of SIM2 mRNA	30951980
D004390	Chlorpyrifos	Chlorpyrifos results in increased expression of SIM2 mRNA	20691718
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of SIM2 gene	20938992
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of SIM2 mRNA	27392435
D002945	Cisplatin	Cisplatin results in decreased expression of SIM2 mRNA	27392435
D003042	Cocaine	Cocaine results in decreased expression of SIM2 mRNA	27899881
C030973	cupric oxide	cupric oxide results in decreased expression of SIM2 mRNA	22077320
D003474	Curcumin	Curcumin inhibits the reaction [Glucose results in increased expression of SIM2 mRNA]	23333261
D003474	Curcumin	Curcumin inhibits the reaction [Glucose results in increased expression of SIM2 protein]	23333261
C000541	cyclopamine	cyclopamine results in decreased expression of SIM2 mRNA	22265815
C023614	dibenzofuran	dibenzofuran analog results in increased expression of SIM2 mRNA	20566336
D004041	Dietary Fats	Dietary Fats results in increased expression of SIM2 mRNA	18042831
C558012	diisononyl 1,2-cyclohexanedicarboxylic acid	diisononyl 1,2-cyclohexanedicarboxylic acid results in increased expression of SIM2 mRNA	29945229
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid 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 SIM2 mRNA	27188386
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of SIM2 gene	20938992
C007836	geraniol	geraniol results in increased expression of SIM2 mRNA	27683099
D005947	Glucose	Curcumin inhibits the reaction [Glucose results in increased expression of SIM2 mRNA]	23333261
D005947	Glucose	Curcumin inhibits the reaction [Glucose results in increased expression of SIM2 protein]	23333261
D005947	Glucose	Glucose results in increased expression of SIM2 mRNA	23333261
D005947	Glucose	Glucose results in increased expression of SIM2 protein	23333261
D005947	Glucose	SIM2 protein results in increased susceptibility to Glucose	23333261
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of SIM2 mRNA	27392435
D008701	Methapyrilene	Methapyrilene results in increased methylation of SIM2 intron	30157460
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of SIM2 gene	20938992
D009532	Nickel	Nickel results in decreased expression of SIM2 mRNA	24768652; 25583101;
D000073878	Palm Oil	Palm Oil results in increased expression of SIM2 mRNA	18042831
D052638	Particulate Matter	Particulate Matter results in increased expression of SIM2 mRNA	22178795
C027373	potassium chromate(VI)	potassium chromate(VI) results in increased expression of SIM2 mRNA	22714537
C009166	retinol acetate	retinol acetate results in increased expression of SIM2 mRNA	16772331
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of SIM2 mRNA	25895662
C017947	sodium arsenite	sodium arsenite affects the methylation of SIM2 gene	28589171
C017947	sodium arsenite	sodium arsenite results in decreased expression of SIM2 mRNA	22714537
D013311	Streptozocin	Streptozocin results in increased expression of SIM2 protein	23333261
D013739	Testosterone	[bisphenol A co-treated with Testosterone] results in decreased expression of SIM2 mRNA	26496021
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of SIM2 mRNA	24058054
C012589	trichostatin A	trichostatin A results in decreased expression of SIM2 mRNA	24935251
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid 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 SIM2 mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in decreased expression of SIM2 mRNA	26272509
D014635	Valproic Acid	Valproic Acid affects the splicing of SIM2 mRNA	29427782
D014638	Vanadates	Vanadates results in decreased expression of SIM2 mRNA	22714537
C029297	vinylidene chloride	vinylidene chloride results in decreased expression of SIM2 mRNA	26682919

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0217	Developmental protein
KW-0221	Differentiation
KW-0238	DNA-binding
KW-0524	Neurogenesis
KW-0539	Nucleus
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0677	Repeat
KW-0804	Transcription
KW-0805	Transcription regulation

Interpro

InterPro ID	InterPro Term
IPR011598	bHLH_dom
IPR036638	HLH_DNA-bd_sf
IPR001610	PAC
IPR000014	PAS
IPR035965	PAS-like_dom_sf
IPR013767	PAS_fold
IPR013655	PAS_fold_3
IPR010578	SIM_C

PROSITE

PROSITE ID	PROSITE Term
PS50888	BHLH
PS50112	PAS
PS51302	SIM_C

Pfam

Pfam ID	Pfam Term
PF00989	PAS
PF08447	PAS_3
PF06621	SIM_C

Gene: SIM2

Basic information

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