CleftGeneDB-Search

Gene: PDGFRB

Basic information

Tag	Content
Uniprot ID	P09619; B5A957; Q8N5L4;
Entrez ID	5159
Genbank protein ID	ACF47631.1; AAA60049.1; AAC51675.1; AAA36427.1; AAH32224.1;
Genbank nucleotide ID	XM_011537659.1; XM_011537658.1; NM_002609.3;
Ensembl protein ID	ENSP00000261799
Ensembl nucleotide ID	ENSG00000113721
Gene name	Platelet-derived growth factor receptor beta
Gene symbol	PDGFRB
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Tyrosine-protein kinase that acts as cell-surface receptor for homodimeric PDGFB and PDGFD and for heterodimers formed by PDGFA and PDGFB, and plays an essential role in the regulation of embryonic development, cell proliferation, survival, differentiation, chemotaxis and migration. Plays an essential role in blood vessel development by promoting proliferation, migration and recruitment of pericytes and smooth muscle cells to endothelial cells. Plays a role in the migration of vascular smooth muscle cells and the formation of neointima at vascular injury sites. Required for normal development of the cardiovascular system. Required for normal recruitment of pericytes (mesangial cells) in the kidney glomerulus, and for normal formation of a branched network of capillaries in kidney glomeruli. Promotes rearrangement of the actin cytoskeleton and the formation of membrane ruffles. Binding of its cognate ligands - homodimeric PDGFB, heterodimers formed by PDGFA and PDGFB or homodimeric PDGFD -leads to the activation of several signaling cascades; the response depends on the nature of the bound ligand and is modulated by the formation of heterodimers between PDGFRA and PDGFRB. Phosphorylates PLCG1, PIK3R1, PTPN11, RASA1/GAP, CBL, SHC1 and NCK1. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate, mobilization of cytosolic Ca(2+) and the activation of protein kinase C. Phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, leads to the activation of the AKT1 signaling pathway. Phosphorylation of SHC1, or of the C-terminus of PTPN11, creates a binding site for GRB2, resulting in the activation of HRAS, RAF1 and down-stream MAP kinases, including MAPK1/ERK2 and/or MAPK3/ERK1. Promotes phosphorylation and activation of SRC family kinases. Promotes phosphorylation of PDCD6IP/ALIX and STAM. Receptor signaling is down-regulated by protein phosphatases that dephosphorylate the receptor and its down-stream effectors, and by rapid internalization of the activated receptor.
Sequence	MRLPGAMPAL ALKGELLLLS LLLLLEPQIS QGLVVTPPGP ELVLNVSSTF VLTCSGSAPV 60 VWERMSQEPP QEMAKAQDGT FSSVLTLTNL TGLDTGEYFC THNDSRGLET DERKRLYIFV 120 PDPTVGFLPN DAEELFIFLT EITEITIPCR VTDPQLVVTL HEKKGDVALP VPYDHQRGFS 180 GIFEDRSYIC KTTIGDREVD SDAYYVYRLQ VSSINVSVNA VQTVVRQGEN ITLMCIVIGN 240 EVVNFEWTYP RKESGRLVEP VTDFLLDMPY HIRSILHIPS AELEDSGTYT CNVTESVNDH 300 QDEKAINITV VESGYVRLLG EVGTLQFAEL HRSRTLQVVF EAYPPPTVLW FKDNRTLGDS 360 SAGEIALSTR NVSETRYVSE LTLVRVKVAE AGHYTMRAFH EDAEVQLSFQ LQINVPVRVL 420 ELSESHPDSG EQTVRCRGRG MPQPNIIWSA CRDLKRCPRE LPPTLLGNSS EEESQLETNV 480 TYWEEEQEFE VVSTLRLQHV DRPLSVRCTL RNAVGQDTQE VIVVPHSLPF KVVVISAILA 540 LVVLTIISLI ILIMLWQKKP RYEIRWKVIE SVSSDGHEYI YVDPMQLPYD STWELPRDQL 600 VLGRTLGSGA FGQVVEATAH GLSHSQATMK VAVKMLKSTA RSSEKQALMS ELKIMSHLGP 660 HLNVVNLLGA CTKGGPIYII TEYCRYGDLV DYLHRNKHTF LQHHSDKRRP PSAELYSNAL 720 PVGLPLPSHV SLTGESDGGY MDMSKDESVD YVPMLDMKGD VKYADIESSN YMAPYDNYVP 780 SAPERTCRAT LINESPVLSY MDLVGFSYQV ANGMEFLASK NCVHRDLAAR NVLICEGKLV 840 KICDFGLARD IMRDSNYISK GSTFLPLKWM APESIFNSLY TTLSDVWSFG ILLWEIFTLG 900 GTPYPELPMN EQFYNAIKRG YRMAQPAHAS DEIYEIMQKC WEEKFEIRPP FSQLVLLLER 960 LLGEGYKKKY QQVDEEFLRS DHPAILRSQA RLPGFHGLRS PLDTSSVLYT AVQPNEGDND 1020 YIIPLPDPKP EVADEGPLEG SPSLASSTLN EVNTSSTISC DSPLEPQDEP EPEPQLELQV 1080 EPEPELEQLP DSGCPAPRAE AEDSFL 1106

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
1GQ5
1H9O
1LWP
1SHA
2IUI
2L6W
2PLD
2PLE
3MJG
2L6W

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	PDGFRB	527165	F1N759		Bos taurus	Prediction	More>>
1:1 ortholog	PDGFRB		A0A452FZS6		Capra hircus	Prediction	More>>
1:1 ortholog	PDGFRB	5159	P09619		Homo sapiens	Prediction	More>>
1:1 ortholog	Pdgfrb	18596	P05622	CPO	Mus musculus	Publication	More>>
1:1 ortholog	PDGFRB		A0A2I3T367		Pan troglodytes	Prediction	More>>
1:1 ortholog			A0A480LAB1		Sus scrofa	Prediction	More>>
1:1 ortholog	Pdgfrb	24629	Q05030		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs148272095	p.Arg2Trp	missense variant	-	NC_000005.10:g.150137044G>A	ESP,ExAC,TOPMed,gnomAD
rs148272095	p.Arg2Gly	missense variant	-	NC_000005.10:g.150137044G>C	ESP,ExAC,TOPMed,gnomAD
rs372399976	p.Arg2Gln	missense variant	-	NC_000005.10:g.150137043C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu3Pro	missense variant	-	NC_000005.10:g.150137040A>G	NCI-TCGA
rs757231368	p.Leu3Phe	missense variant	-	NC_000005.10:g.150137041G>A	ExAC,gnomAD
rs144923639	p.Pro4Leu	missense variant	-	NC_000005.10:g.150137037G>A	ESP,ExAC,TOPMed,gnomAD
rs144923639	p.Pro4Gln	missense variant	-	NC_000005.10:g.150137037G>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro4Thr	missense variant	-	NC_000005.10:g.150137038G>T	NCI-TCGA
rs1431198340	p.Gly5Asp	missense variant	-	NC_000005.10:g.150137034C>T	gnomAD
rs150173975	p.Ala6Val	missense variant	-	NC_000005.10:g.150137031G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766578665	p.Ala6Thr	missense variant	-	NC_000005.10:g.150137032C>T	ExAC,gnomAD
rs1432048735	p.Met7Arg	missense variant	-	NC_000005.10:g.150137028A>C	gnomAD
NCI-TCGA novel	p.Pro8Ser	missense variant	-	NC_000005.10:g.150137026G>A	NCI-TCGA
rs748711817	p.Ala9Pro	missense variant	-	NC_000005.10:g.150137023C>G	ExAC,gnomAD
rs576388049	p.Leu10Pro	missense variant	-	NC_000005.10:g.150137019A>G	1000Genomes,ExAC,gnomAD
rs1465066628	p.Ala11Val	missense variant	-	NC_000005.10:g.150137016G>A	gnomAD
rs199730626	p.Ala11Pro	missense variant	-	NC_000005.10:g.150137017C>G	1000Genomes,ExAC,gnomAD
rs199730626	p.Ala11Thr	missense variant	-	NC_000005.10:g.150137017C>T	1000Genomes,ExAC,gnomAD
rs746497331	p.Leu12Phe	missense variant	-	NC_000005.10:g.150137014G>A	ExAC,gnomAD
rs1252598875	p.Gly14Val	missense variant	-	NC_000005.10:g.150135878C>A	gnomAD
rs148853962	p.Glu15Lys	missense variant	-	NC_000005.10:g.150135876C>T	ESP,ExAC,TOPMed,gnomAD
COSM6102829	p.Glu15Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.150135876C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu17Met	missense variant	-	NC_000005.10:g.150135870G>T	NCI-TCGA
rs758433037	p.Ser20Pro	missense variant	-	NC_000005.10:g.150135861A>G	ExAC,gnomAD
rs750698728	p.Ser20Cys	missense variant	-	NC_000005.10:g.150135860G>C	ExAC,gnomAD
COSM737240	p.Leu21Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150135858G>A	NCI-TCGA Cosmic
rs1238451735	p.Leu22Arg	missense variant	-	NC_000005.10:g.150135854A>C	gnomAD
rs762297182	p.Leu24Phe	missense variant	-	NC_000005.10:g.150135849G>A	ExAC,TOPMed,gnomAD
rs758514857	p.Pro27Ser	missense variant	-	NC_000005.10:g.150135840G>A	gnomAD
rs17110944	p.Ile29Phe	missense variant	-	NC_000005.10:g.150135834T>A	UniProt,dbSNP
VAR_034377	p.Ile29Phe	missense variant	-	NC_000005.10:g.150135834T>A	UniProt
rs17110944	p.Ile29Phe	missense variant	-	NC_000005.10:g.150135834T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000246485	p.Ile29Phe	missense variant	-	NC_000005.10:g.150135834T>A	ClinVar
RCV000551181	p.Ile29Phe	missense variant	Infantile myofibromatosis 1 (IMF1)	NC_000005.10:g.150135834T>A	ClinVar
NCI-TCGA novel	p.Ser30Tyr	missense variant	-	NC_000005.10:g.150135830G>T	NCI-TCGA
rs764493388	p.Gln31Lys	missense variant	-	NC_000005.10:g.150135828G>T	ExAC,gnomAD
COSM4844209	p.Gln31Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150135828G>C	NCI-TCGA Cosmic
rs761286709	p.Gly32Ser	missense variant	-	NC_000005.10:g.150135825C>T	ExAC,TOPMed,gnomAD
rs368010583	p.Gly32Asp	missense variant	-	NC_000005.10:g.150135824C>T	ESP,ExAC,gnomAD
rs568728923	p.Val35Ile	missense variant	-	NC_000005.10:g.150135816C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1159899108	p.Thr36Ser	missense variant	-	NC_000005.10:g.150135813T>A	gnomAD
rs774107509	p.Thr36Ile	missense variant	-	NC_000005.10:g.150135812G>A	ExAC,TOPMed,gnomAD
rs748906060	p.Pro37Ser	missense variant	-	NC_000005.10:g.150135810G>A	ExAC,TOPMed,gnomAD
rs748906060	p.Pro37Ala	missense variant	-	NC_000005.10:g.150135810G>C	ExAC,TOPMed,gnomAD
rs754766440	p.Pro38Arg	missense variant	-	NC_000005.10:g.150135806G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro38ArgPheSerTerUnkUnk	frameshift	-	NC_000005.10:g.150135806G>-	NCI-TCGA
rs754766440	p.Pro38Leu	missense variant	-	NC_000005.10:g.150135806G>A	ExAC,TOPMed,gnomAD
rs750457698	p.Gly39Arg	missense variant	-	NC_000005.10:g.150135804C>G	ExAC,gnomAD
rs750457698	p.Gly39Arg	missense variant	-	NC_000005.10:g.150135804C>T	ExAC,gnomAD
rs1204706180	p.Pro40Thr	missense variant	-	NC_000005.10:g.150135801G>T	gnomAD
rs1021692167	p.Glu41Lys	missense variant	-	NC_000005.10:g.150135798C>T	TOPMed
rs778982886	p.Val43Ala	missense variant	-	NC_000005.10:g.150135791A>G	ExAC,gnomAD
rs1239434481	p.Leu44Phe	missense variant	-	NC_000005.10:g.150135789G>A	TOPMed
rs757431440	p.Asn45Ser	missense variant	-	NC_000005.10:g.150135785T>C	ExAC,gnomAD
rs1323411468	p.Ser48Gly	missense variant	-	NC_000005.10:g.150135777T>C	TOPMed,gnomAD
rs753583697	p.Phe50Leu	missense variant	-	NC_000005.10:g.150135769G>C	ExAC,gnomAD
COSM6102830	p.Val51Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150135768C>A	NCI-TCGA Cosmic
rs761086433	p.Val51Leu	missense variant	-	NC_000005.10:g.150135768C>G	ExAC,TOPMed,gnomAD
rs761086433	p.Val51Ile	missense variant	-	NC_000005.10:g.150135768C>T	ExAC,TOPMed,gnomAD
rs1331996642	p.Cys54Phe	missense variant	-	NC_000005.10:g.150135758C>A	gnomAD
rs147952898	p.Ser55Leu	missense variant	-	NC_000005.10:g.150135755G>A	ESP,ExAC,TOPMed,gnomAD
RCV000523080	p.Ser55Leu	missense variant	-	NC_000005.10:g.150135755G>A	ClinVar
rs1386589670	p.Gly56Cys	missense variant	-	NC_000005.10:g.150135753C>A	gnomAD
rs202213873	p.Pro59Arg	missense variant	-	NC_000005.10:g.150135743G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs202213873	p.Pro59Leu	missense variant	-	NC_000005.10:g.150135743G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs144954868	p.Pro59Ser	missense variant	-	NC_000005.10:g.150135744G>A	ESP
rs1478236512	p.Val60Leu	missense variant	-	NC_000005.10:g.150135741C>A	gnomAD
rs1372232728	p.Val61Leu	missense variant	-	NC_000005.10:g.150135738C>A	gnomAD
COSM1064302	p.Trp62Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.150135733C>T	NCI-TCGA Cosmic
COSM5903561	p.Glu63Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150135732C>T	NCI-TCGA Cosmic
rs1244128395	p.Arg64Gln	missense variant	-	NC_000005.10:g.150135728C>T	gnomAD
rs367993439	p.Arg64Trp	missense variant	-	NC_000005.10:g.150135729G>A	1000Genomes,ESP,ExAC,gnomAD
rs747916560	p.Ser66Thr	missense variant	-	NC_000005.10:g.150135723A>T	ExAC,gnomAD
rs1277924406	p.Ser66Phe	missense variant	-	NC_000005.10:g.150135722G>A	TOPMed
NCI-TCGA novel	p.Ser66Pro	missense variant	-	NC_000005.10:g.150135723A>G	NCI-TCGA
rs776609724	p.Gln67Pro	missense variant	-	NC_000005.10:g.150135719T>G	ExAC,gnomAD
rs766277403	p.Glu68Asp	missense variant	-	NC_000005.10:g.150135715C>G	ExAC,gnomAD
rs766277403	p.Glu68Asp	missense variant	-	NC_000005.10:g.150135715C>A	ExAC,gnomAD
rs746904891	p.Pro70Arg	missense variant	-	NC_000005.10:g.150135710G>C	ExAC,gnomAD
rs778879949	p.Gln71Arg	missense variant	-	NC_000005.10:g.150135707T>C	ExAC,TOPMed,gnomAD
rs1230244085	p.Met73Val	missense variant	-	NC_000005.10:g.150135702T>C	TOPMed
NCI-TCGA novel	p.Ala74Val	missense variant	-	NC_000005.10:g.150135698G>A	NCI-TCGA
rs1346227937	p.Ala76Thr	missense variant	-	NC_000005.10:g.150135693C>T	gnomAD
rs1269978839	p.Gln77Leu	missense variant	-	NC_000005.10:g.150135689T>A	TOPMed,gnomAD
rs1269978839	p.Gln77Pro	missense variant	-	NC_000005.10:g.150135689T>G	TOPMed,gnomAD
rs1436552710	p.Asp78Val	missense variant	-	NC_000005.10:g.150135686T>A	gnomAD
rs1224840287	p.Gly79Ala	missense variant	-	NC_000005.10:g.150135683C>G	gnomAD
rs1297813606	p.Ser82Cys	missense variant	-	NC_000005.10:g.150135674G>C	gnomAD
rs80162387	p.Val84Met	missense variant	-	NC_000005.10:g.150135669C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1414956735	p.Leu85Phe	missense variant	-	NC_000005.10:g.150135666G>A	gnomAD
rs373647341	p.Thr86Ile	missense variant	-	NC_000005.10:g.150135662G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu87Met	missense variant	-	NC_000005.10:g.150135660G>T	NCI-TCGA
rs147303614	p.Thr88Asn	missense variant	-	NC_000005.10:g.150135656G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147303614	p.Thr88Ile	missense variant	-	NC_000005.10:g.150135656G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs765840983	p.Leu90Phe	missense variant	-	NC_000005.10:g.150135651G>A	ExAC,TOPMed,gnomAD
rs765840983	p.Leu90Ile	missense variant	-	NC_000005.10:g.150135651G>T	ExAC,TOPMed,gnomAD
rs1373590584	p.Leu90His	missense variant	-	NC_000005.10:g.150135650A>T	TOPMed
NCI-TCGA novel	p.Leu90Arg	inframe deletion	-	NC_000005.10:g.150135633_150135650CCGTGTCTAGCCCAGTGA>-	NCI-TCGA
rs1170328754	p.Thr91Ala	missense variant	-	NC_000005.10:g.150135648T>C	TOPMed
rs141870925	p.Gly92Trp	missense variant	-	NC_000005.10:g.150135645C>A	ESP,ExAC,TOPMed,gnomAD
rs761665285	p.Leu93Arg	missense variant	-	NC_000005.10:g.150135641A>C	ExAC,gnomAD
rs764858656	p.Leu93Ile	missense variant	-	NC_000005.10:g.150135642G>T	ExAC,TOPMed,gnomAD
rs1272810440	p.Thr95Met	missense variant	-	NC_000005.10:g.150135635G>A	gnomAD
NCI-TCGA novel	p.Glu97Ter	stop gained	-	NC_000005.10:g.150135630C>A	NCI-TCGA
rs1297885582	p.Phe99Leu	missense variant	-	NC_000005.10:g.150135622A>C	gnomAD
rs768446566	p.Phe99Val	missense variant	-	NC_000005.10:g.150135624A>C	ExAC,gnomAD
rs368624710	p.Phe99Cys	missense variant	-	NC_000005.10:g.150135623A>C	ESP
rs1359022202	p.Thr101Ala	missense variant	-	NC_000005.10:g.150135618T>C	TOPMed
rs755989080	p.His102Pro	missense variant	-	NC_000005.10:g.150135614T>G	ExAC,gnomAD
rs755989080	p.His102Leu	missense variant	-	NC_000005.10:g.150135614T>A	ExAC,gnomAD
rs755989080	p.His102Arg	missense variant	-	NC_000005.10:g.150135614T>C	ExAC,gnomAD
rs770961190	p.Asn103Ser	missense variant	-	NC_000005.10:g.150135611T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp104Gly	missense variant	-	NC_000005.10:g.150135608T>C	NCI-TCGA
rs544478083	p.Arg106Pro	missense variant	-	NC_000005.10:g.150135602C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs544478083	p.Arg106His	missense variant	-	NC_000005.10:g.150135602C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg106ValPheSerTerUnkUnk	frameshift	-	NC_000005.10:g.150135603G>-	NCI-TCGA
rs756405938	p.Arg106Cys	missense variant	-	NC_000005.10:g.150135603G>A	ExAC,gnomAD
rs756405938	p.Arg106Ser	missense variant	-	NC_000005.10:g.150135603G>T	ExAC,gnomAD
rs1305691568	p.Gly107Val	missense variant	-	NC_000005.10:g.150135599C>A	TOPMed
rs558122968	p.Asp111Asn	missense variant	-	NC_000005.10:g.150135588C>T	ExAC,TOPMed,gnomAD
rs144757799	p.Asp111Gly	missense variant	-	NC_000005.10:g.150135587T>C	ESP,ExAC,gnomAD
rs749932332	p.Glu112Lys	missense variant	-	NC_000005.10:g.150135585C>T	ExAC,TOPMed,gnomAD
rs764662524	p.Arg113Gln	missense variant	-	NC_000005.10:g.150135581C>T	ExAC,TOPMed,gnomAD
rs968860845	p.Arg113Trp	missense variant	-	NC_000005.10:g.150135582G>A	TOPMed,gnomAD
rs761474960	p.Lys114Asn	missense variant	-	NC_000005.10:g.150135577T>G	ExAC,TOPMed,gnomAD
rs776224834	p.Arg115Trp	missense variant	-	NC_000005.10:g.150135576G>A	ExAC,TOPMed,gnomAD
rs763833875	p.Arg115Gln	missense variant	-	NC_000005.10:g.150135575C>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu116Ile	missense variant	-	NC_000005.10:g.150135573G>T	NCI-TCGA
rs1275782243	p.Ile118Val	missense variant	-	NC_000005.10:g.150135567T>C	gnomAD
rs1221364318	p.Val120Leu	missense variant	-	NC_000005.10:g.150135561C>A	gnomAD
rs1410359446	p.Pro123Leu	missense variant	-	NC_000005.10:g.150135013G>A	gnomAD
rs772384541	p.Pro123Ser	missense variant	-	NC_000005.10:g.150135014G>A	ExAC,gnomAD
rs746412703	p.Thr124Ala	missense variant	-	NC_000005.10:g.150135011T>C	ExAC,TOPMed,gnomAD
rs540587683	p.Val125Met	missense variant	-	NC_000005.10:g.150135008C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs540587683	p.Val125Leu	missense variant	-	NC_000005.10:g.150135008C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs371293050	p.Gly126Ala	missense variant	-	NC_000005.10:g.150135004C>G	ESP,ExAC,TOPMed,gnomAD
rs371293050	p.Gly126Asp	missense variant	-	NC_000005.10:g.150135004C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu128Ile	missense variant	-	NC_000005.10:g.150134999G>T	NCI-TCGA
rs767379166	p.Asp131Gly	missense variant	-	NC_000005.10:g.150134989T>C	ExAC
COSM283928	p.Glu134Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150134980T>C	NCI-TCGA Cosmic
rs1361500940	p.Leu135Arg	missense variant	-	NC_000005.10:g.150134977A>C	gnomAD
COSM737241	p.Ile137Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150134970G>C	NCI-TCGA Cosmic
rs138830253	p.Thr140Met	missense variant	-	NC_000005.10:g.150134962G>A	ESP,ExAC,TOPMed,gnomAD
rs1437407455	p.Thr140Ala	missense variant	-	NC_000005.10:g.150134963T>C	gnomAD
NCI-TCGA novel	p.Glu141Lys	missense variant	-	NC_000005.10:g.150134960C>T	NCI-TCGA
rs1361327537	p.Glu144Asp	missense variant	-	NC_000005.10:g.150134949C>A	gnomAD
NCI-TCGA novel	p.Pro148Leu	missense variant	-	NC_000005.10:g.150134938G>A	NCI-TCGA
rs760987130	p.Arg150Gln	missense variant	-	NC_000005.10:g.150134932C>T	ExAC,TOPMed,gnomAD
rs775542260	p.Val151Ile	missense variant	-	NC_000005.10:g.150134930C>T	ExAC,gnomAD
COSM6102831	p.Asp153His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150134924C>G	NCI-TCGA Cosmic
rs746218367	p.Pro154Ser	missense variant	-	NC_000005.10:g.150134921G>A	ExAC,TOPMed
rs774900944	p.Pro154Arg	missense variant	-	NC_000005.10:g.150134920G>C	ExAC,TOPMed,gnomAD
rs950743987	p.Gln155His	missense variant	-	NC_000005.10:g.150134916C>A	TOPMed,gnomAD
rs1399184006	p.Leu156Met	missense variant	-	NC_000005.10:g.150134915G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Val158Glu	missense variant	-	NC_000005.10:g.150134908A>T	NCI-TCGA
COSM4877412	p.Val158Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150134908A>G	NCI-TCGA Cosmic
rs755541652	p.Thr159Ser	missense variant	-	NC_000005.10:g.150134906T>A	ExAC,gnomAD
rs747877386	p.Leu160Val	missense variant	-	NC_000005.10:g.150134903G>C	ExAC,TOPMed,gnomAD
RCV000707161	p.Glu162Lys	missense variant	Infantile myofibromatosis 1 (IMF1)	NC_000005.10:g.150134897C>T	ClinVar
rs751395575	p.Lys164Asn	missense variant	-	NC_000005.10:g.150134889T>G	ExAC,gnomAD
rs144857517	p.Val167Ile	missense variant	-	NC_000005.10:g.150134882C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala168Val	missense variant	-	NC_000005.10:g.150134878G>A	NCI-TCGA
rs1170155189	p.Pro172Leu	missense variant	-	NC_000005.10:g.150134866G>A	gnomAD
NCI-TCGA novel	p.Tyr173Phe	missense variant	-	NC_000005.10:g.150134863T>A	NCI-TCGA
rs1429997118	p.His175Arg	missense variant	-	NC_000005.10:g.150134857T>C	gnomAD
rs759684681	p.Arg177Leu	missense variant	-	NC_000005.10:g.150134851C>A	ExAC,gnomAD
rs142683442	p.Arg177Cys	missense variant	-	NC_000005.10:g.150134852G>A	ESP,ExAC,TOPMed,gnomAD
rs759684681	p.Arg177His	missense variant	-	NC_000005.10:g.150134851C>T	ExAC,gnomAD
rs17853027	p.Ser180Cys	missense variant	-	NC_000005.10:g.150134842G>C	gnomAD
rs17853027	p.Ser180Phe	missense variant	-	NC_000005.10:g.150134842G>A	UniProt,dbSNP
VAR_035125	p.Ser180Phe	missense variant	-	NC_000005.10:g.150134842G>A	UniProt
rs17853027	p.Ser180Phe	missense variant	-	NC_000005.10:g.150134842G>A	gnomAD
rs574853772	p.Gly181Arg	missense variant	-	NC_000005.10:g.150134840C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs574853772	p.Gly181Ser	missense variant	-	NC_000005.10:g.150134840C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs771234317	p.Gly181Ala	missense variant	-	NC_000005.10:g.150134839C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu184Lys	missense variant	-	NC_000005.10:g.150134831C>T	NCI-TCGA
rs749830302	p.Ile189Thr	missense variant	-	NC_000005.10:g.150134815A>G	ExAC,gnomAD
rs1207642277	p.Cys190Tyr	missense variant	-	NC_000005.10:g.150134812C>T	gnomAD
rs773564134	p.Thr192Ser	missense variant	-	NC_000005.10:g.150134806G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr192Asn	missense variant	-	NC_000005.10:g.150134806G>T	NCI-TCGA
rs747602665	p.Thr193Ala	missense variant	-	NC_000005.10:g.150134804T>C	ExAC,gnomAD
rs781058044	p.Thr193Ile	missense variant	-	NC_000005.10:g.150134803G>A	ExAC,gnomAD
rs754682330	p.Ile194Val	missense variant	-	NC_000005.10:g.150134801T>C	ExAC,TOPMed,gnomAD
rs2229560	p.Ile194Thr	missense variant	-	NC_000005.10:g.150134800A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs758095904	p.Asp196Glu	missense variant	-	NC_000005.10:g.150134793G>C	ExAC,gnomAD
rs145459651	p.Asp196Tyr	missense variant	-	NC_000005.10:g.150134795C>A	ESP,ExAC,TOPMed,gnomAD
rs116642123	p.Arg197Lys	missense variant	-	NC_000005.10:g.150134791C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1364595043	p.Arg197Gly	missense variant	-	NC_000005.10:g.150134792T>C	gnomAD
rs1330417953	p.Glu198Lys	missense variant	-	NC_000005.10:g.150134789C>T	TOPMed
NCI-TCGA novel	p.Tyr204Ter	stop gained	-	NC_000005.10:g.150134769G>T	NCI-TCGA
rs765070977	p.Tyr205Cys	missense variant	-	NC_000005.10:g.150134767T>C	ExAC,TOPMed,gnomAD
rs1253754606	p.Tyr207Cys	missense variant	-	NC_000005.10:g.150134761T>C	gnomAD
rs374440746	p.Arg208Ser	missense variant	-	NC_000005.10:g.150134757T>G	ESP,ExAC,TOPMed,gnomAD
rs767523277	p.Leu209His	missense variant	-	NC_000005.10:g.150134755A>T	ExAC,gnomAD
rs370817438	p.Val216Ile	missense variant	-	NC_000005.10:g.150133994C>T	ESP,ExAC,TOPMed,gnomAD
rs370817438	p.Val216Leu	missense variant	-	NC_000005.10:g.150133994C>G	ESP,ExAC,TOPMed,gnomAD
rs1366664975	p.Val216Ala	missense variant	-	NC_000005.10:g.150133993A>G	TOPMed
rs368231732	p.Ser217Cys	missense variant	-	NC_000005.10:g.150133990G>C	ESP,ExAC,TOPMed,gnomAD
rs552941597	p.Ala220Thr	missense variant	-	NC_000005.10:g.150133982C>T	1000Genomes,ExAC,gnomAD
rs770718375	p.Val221Met	missense variant	-	NC_000005.10:g.150133979C>T	ExAC,TOPMed,gnomAD
rs770718375	p.Val221Leu	missense variant	-	NC_000005.10:g.150133979C>G	ExAC,TOPMed,gnomAD
rs749262788	p.Arg226Leu	missense variant	-	NC_000005.10:g.150133963C>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg226His	missense variant	-	NC_000005.10:g.150133963C>T	NCI-TCGA
rs1189852609	p.Gln227Arg	missense variant	-	NC_000005.10:g.150133960T>C	gnomAD
rs1451340800	p.Gln227Lys	missense variant	-	NC_000005.10:g.150133961G>T	TOPMed
rs374239531	p.Gly228Asp	missense variant	-	NC_000005.10:g.150133957C>T	ESP,TOPMed
RCV000171387	p.Gly228Asp	missense variant	-	NC_000005.10:g.150133957C>T	ClinVar
rs374239531	p.Gly228Ala	missense variant	-	NC_000005.10:g.150133957C>G	ESP,TOPMed
rs755109587	p.Met234Val	missense variant	-	NC_000005.10:g.150133940T>C	ExAC,TOPMed,gnomAD
rs1273486607	p.Ile236Val	missense variant	-	NC_000005.10:g.150133934T>C	gnomAD
COSM3612483	p.Ile238Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150133926G>C	NCI-TCGA Cosmic
rs1465364786	p.Gly239Arg	missense variant	-	NC_000005.10:g.150133925C>T	TOPMed
COSM1064300	p.Asn240Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150133921T>C	NCI-TCGA Cosmic
rs750613456	p.Asn244Lys	missense variant	-	NC_000005.10:g.150133908G>C	ExAC,gnomAD
COSM1736653	p.Phe245Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150133906A>C	NCI-TCGA Cosmic
rs1338652552	p.Trp247Ter	stop gained	-	NC_000005.10:g.150133900C>T	gnomAD
rs754451292	p.Arg251His	missense variant	-	NC_000005.10:g.150133888C>T	ExAC,gnomAD
rs757668250	p.Arg251Cys	missense variant	-	NC_000005.10:g.150133889G>A	ExAC,TOPMed
NCI-TCGA novel	p.Gly255Glu	missense variant	-	NC_000005.10:g.150133756C>T	NCI-TCGA
rs147568171	p.Arg256Trp	missense variant	-	NC_000005.10:g.150133754G>A	ESP,ExAC,TOPMed,gnomAD
rs1351556504	p.Arg256Gln	missense variant	-	NC_000005.10:g.150133753C>T	TOPMed
RCV000523885	p.Arg256Trp	missense variant	-	NC_000005.10:g.150133754G>A	ClinVar
rs756516035	p.Val258Met	missense variant	-	NC_000005.10:g.150133748C>T	ExAC,gnomAD
rs753192549	p.Pro260Leu	missense variant	-	NC_000005.10:g.150133741G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe264Ile	missense variant	-	NC_000005.10:g.150133730A>T	NCI-TCGA
rs1358495175	p.Leu266Phe	missense variant	-	NC_000005.10:g.150133722C>G	TOPMed
rs754514493	p.Asp267Asn	missense variant	-	NC_000005.10:g.150133721C>T	ExAC,gnomAD
rs751085975	p.Asp267Gly	missense variant	-	NC_000005.10:g.150133720T>C	ExAC,gnomAD
rs754514493	p.Asp267Tyr	missense variant	-	NC_000005.10:g.150133721C>A	ExAC,gnomAD
rs894979868	p.His271Tyr	missense variant	-	NC_000005.10:g.150133709G>A	gnomAD
rs765818881	p.Ile272Leu	missense variant	-	NC_000005.10:g.150133706T>G	ExAC,TOPMed,gnomAD
rs1190335517	p.Arg273His	missense variant	-	NC_000005.10:g.150133702C>T	TOPMed,gnomAD
rs373131428	p.Arg273Cys	missense variant	-	NC_000005.10:g.150133703G>A	ESP,ExAC,gnomAD
rs1476817374	p.Ser274Cys	missense variant	-	NC_000005.10:g.150133699G>C	gnomAD
rs750040840	p.Leu276Val	missense variant	-	NC_000005.10:g.150133694G>C	ExAC,TOPMed,gnomAD
rs1206963952	p.His277Tyr	missense variant	-	NC_000005.10:g.150133691G>A	TOPMed
rs369581401	p.Ile278Leu	missense variant	-	NC_000005.10:g.150133688T>G	ESP,ExAC,TOPMed,gnomAD
rs1483264770	p.Pro279Arg	missense variant	-	NC_000005.10:g.150133684G>C	TOPMed
rs761649485	p.Ser280Arg	missense variant	-	NC_000005.10:g.150133680A>T	ExAC,TOPMed,gnomAD
rs776497082	p.Ala281Val	missense variant	-	NC_000005.10:g.150133678G>A	ExAC,gnomAD
rs34586048	p.Glu282Lys	missense variant	-	NC_000005.10:g.150133676C>T	UniProt,dbSNP
VAR_042027	p.Glu282Lys	missense variant	-	NC_000005.10:g.150133676C>T	UniProt
rs34586048	p.Glu282Lys	missense variant	-	NC_000005.10:g.150133676C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs774591563	p.Glu282Asp	missense variant	-	NC_000005.10:g.150133674C>G	ExAC,gnomAD
rs771094828	p.Glu284Lys	missense variant	-	NC_000005.10:g.150133670C>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp285Ala	missense variant	-	NC_000005.10:g.150133666T>G	NCI-TCGA
rs749560540	p.Ser286Leu	missense variant	-	NC_000005.10:g.150133663G>A	ExAC,TOPMed,gnomAD
rs977354055	p.Thr288Ala	missense variant	-	NC_000005.10:g.150133658T>C	TOPMed,gnomAD
rs770112868	p.Thr288Ser	missense variant	-	NC_000005.10:g.150133657G>C	ExAC,gnomAD
rs147707126	p.Thr290Ser	missense variant	-	NC_000005.10:g.150133651G>C	ESP,ExAC,gnomAD
rs147707126	p.Thr290Ile	missense variant	-	NC_000005.10:g.150133651G>A	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Cys291Tyr	missense variant	-	NC_000005.10:g.150133648C>T	NCI-TCGA
NCI-TCGA novel	p.Cys291Arg	missense variant	-	NC_000005.10:g.150133649A>G	NCI-TCGA
rs1175765188	p.Asn292Ser	missense variant	-	NC_000005.10:g.150133645T>C	TOPMed,gnomAD
rs61732347	p.Thr294Ala	missense variant	-	NC_000005.10:g.150133640T>C	gnomAD
rs61732347	p.Thr294Pro	missense variant	-	NC_000005.10:g.150133640T>G	gnomAD
rs374864774	p.Thr294Met	missense variant	-	NC_000005.10:g.150133639G>A	ESP,ExAC,TOPMed,gnomAD
rs764858967	p.Ser296Cys	missense variant	-	NC_000005.10:g.150133634T>A	ExAC,TOPMed,gnomAD
rs753677621	p.Ser296Arg	missense variant	-	NC_000005.10:g.150133632A>T	ExAC,gnomAD
rs1465274173	p.Asp299Glu	missense variant	-	NC_000005.10:g.150133623G>T	TOPMed,gnomAD
rs546647851	p.His300Leu	missense variant	-	NC_000005.10:g.150133621T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs546647851	p.His300Arg	missense variant	-	NC_000005.10:g.150133621T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1202005152	p.Glu303Ala	missense variant	-	NC_000005.10:g.150133612T>G	gnomAD
rs760689123	p.Lys304Arg	missense variant	-	NC_000005.10:g.150133609T>C	ExAC,TOPMed,gnomAD
rs775536586	p.Asn307Thr	missense variant	-	NC_000005.10:g.150133600T>G	ExAC,gnomAD
rs1275640834	p.Ile308Val	missense variant	-	NC_000005.10:g.150133598T>C	TOPMed
rs1364630262	p.Val310Met	missense variant	-	NC_000005.10:g.150133592C>T	TOPMed,gnomAD
rs915463868	p.Val311Ile	missense variant	-	NC_000005.10:g.150133589C>T	TOPMed
rs1162681591	p.Ser313Asn	missense variant	-	NC_000005.10:g.150132939C>T	TOPMed,gnomAD
rs1009638728	p.Gly314Ser	missense variant	-	NC_000005.10:g.150132937C>T	gnomAD
rs1009638728	p.Gly314Cys	missense variant	-	NC_000005.10:g.150132937C>A	gnomAD
RCV000335817	p.Val316Met	missense variant	-	NC_000005.10:g.150132931C>T	ClinVar
rs201765870	p.Val316Ala	missense variant	-	NC_000005.10:g.150132930A>G	1000Genomes,ExAC,gnomAD
rs41287112	p.Val316Met	missense variant	-	NC_000005.10:g.150132931C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs41287112	p.Val316Leu	missense variant	-	NC_000005.10:g.150132931C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs759481106	p.Arg317Trp	missense variant	-	NC_000005.10:g.150132928G>A	ExAC,TOPMed,gnomAD
rs1443597666	p.Arg317Gln	missense variant	-	NC_000005.10:g.150132927C>T	gnomAD
rs773441060	p.Glu321Asp	missense variant	-	NC_000005.10:g.150132914C>G	ExAC,TOPMed,gnomAD
rs765183053	p.Gly323Ser	missense variant	-	NC_000005.10:g.150132910C>T	ExAC,gnomAD
rs374208706	p.Gly323Asp	missense variant	-	NC_000005.10:g.150132909C>T	ESP,ExAC,TOPMed,gnomAD
COSM1435165	p.Gly323Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150132910C>A	NCI-TCGA Cosmic
rs372924064	p.Thr324Ile	missense variant	-	NC_000005.10:g.150132906G>A	ESP,ExAC,TOPMed,gnomAD
rs1294402409	p.Leu325Arg	missense variant	-	NC_000005.10:g.150132903A>C	TOPMed,gnomAD
rs369442822	p.Ala328Val	missense variant	-	NC_000005.10:g.150132894G>A	ESP,ExAC,gnomAD
rs1391612009	p.Leu330Pro	missense variant	-	NC_000005.10:g.150132888A>G	gnomAD
rs1291265658	p.Arg332Trp	missense variant	-	NC_000005.10:g.150132883G>A	gnomAD
rs776046151	p.Arg332Gln	missense variant	-	NC_000005.10:g.150132882C>T	ExAC,TOPMed,gnomAD
rs1395162931	p.Ser333Asn	missense variant	-	NC_000005.10:g.150132879C>T	gnomAD
rs375079353	p.Arg334Leu	missense variant	-	NC_000005.10:g.150132876C>A	ESP,ExAC,TOPMed,gnomAD
rs375079353	p.Arg334Gln	missense variant	-	NC_000005.10:g.150132876C>T	ESP,ExAC,TOPMed,gnomAD
rs150846835	p.Arg334Trp	missense variant	-	NC_000005.10:g.150132877G>A	ESP,ExAC,TOPMed,gnomAD
rs777277212	p.Gln337Arg	missense variant	-	NC_000005.10:g.150132867T>C	ExAC,gnomAD
NCI-TCGA novel	p.Val338Ala	missense variant	-	NC_000005.10:g.150132864A>G	NCI-TCGA
rs1275407530	p.Val338Ile	missense variant	-	NC_000005.10:g.150132865C>T	TOPMed,gnomAD
rs775533791	p.Phe340Leu	missense variant	-	NC_000005.10:g.150132857G>C	ExAC,TOPMed,gnomAD
rs942220808	p.Glu341Gln	missense variant	-	NC_000005.10:g.150132856C>G	TOPMed,gnomAD
rs942220808	p.Glu341Lys	missense variant	-	NC_000005.10:g.150132856C>T	TOPMed,gnomAD
rs767364248	p.Pro344Ala	missense variant	-	NC_000005.10:g.150132847G>C	ExAC,gnomAD
rs201250234	p.Pro345Gln	missense variant	-	NC_000005.10:g.150132843G>T	ExAC,TOPMed,gnomAD
rs201250234	p.Pro345Leu	missense variant	-	NC_000005.10:g.150132843G>A	ExAC,TOPMed,gnomAD
rs2229558	p.Pro345Ser	missense variant	-	NC_000005.10:g.150132844G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000420025	p.Pro345Ser	missense variant	-	NC_000005.10:g.150132844G>A	ClinVar
NCI-TCGA novel	p.Pro346Thr	missense variant	-	NC_000005.10:g.150132841G>T	NCI-TCGA
rs761780839	p.Thr347Ala	missense variant	-	NC_000005.10:g.150132838T>C	ExAC,TOPMed,gnomAD
rs1371019308	p.Val348Phe	missense variant	-	NC_000005.10:g.150132835C>A	gnomAD
rs1020494503	p.Val348Asp	missense variant	-	NC_000005.10:g.150132834A>T	TOPMed
rs368862822	p.Leu349Val	missense variant	-	NC_000005.10:g.150132832G>C	ESP,ExAC,TOPMed,gnomAD
rs764220634	p.Trp350Leu	missense variant	-	NC_000005.10:g.150132828C>A	ExAC,gnomAD
rs760825537	p.Phe351Tyr	missense variant	-	NC_000005.10:g.150132825A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe351Leu	missense variant	-	NC_000005.10:g.150132824G>C	NCI-TCGA
rs1465327575	p.Asp353His	missense variant	-	NC_000005.10:g.150132820C>G	gnomAD
rs1473502268	p.Asn354Lys	missense variant	-	NC_000005.10:g.150132815G>T	TOPMed
rs746410632	p.Arg355His	missense variant	-	NC_000005.10:g.150132813C>T	ExAC,gnomAD
rs140008145	p.Arg355Cys	missense variant	-	NC_000005.10:g.150132814G>A	ESP,ExAC,TOPMed,gnomAD
rs774697563	p.Thr356Ile	missense variant	-	NC_000005.10:g.150132810G>A	ExAC,TOPMed,gnomAD
rs774697563	p.Thr356Ser	missense variant	-	NC_000005.10:g.150132810G>C	ExAC,TOPMed,gnomAD
rs976884121	p.Gly358Asp	missense variant	-	NC_000005.10:g.150132804C>T	TOPMed
rs375484098	p.Asp359Tyr	missense variant	-	NC_000005.10:g.150132802C>A	ESP,ExAC,TOPMed,gnomAD
rs375484098	p.Asp359Asn	missense variant	-	NC_000005.10:g.150132802C>T	ESP,ExAC,TOPMed,gnomAD
rs1463915643	p.Ser360Cys	missense variant	-	NC_000005.10:g.150132798G>C	gnomAD
rs747756021	p.Ala362Thr	missense variant	-	NC_000005.10:g.150132793C>T	ExAC,TOPMed,gnomAD
rs754790326	p.Glu364Lys	missense variant	-	NC_000005.10:g.150132787C>T	ExAC,TOPMed,gnomAD
rs368602685	p.Ala366Thr	missense variant	-	NC_000005.10:g.150132781C>T	ESP,ExAC,TOPMed,gnomAD
rs375343084	p.Thr369Met	missense variant	-	NC_000005.10:g.150132771G>A	ESP,ExAC,TOPMed,gnomAD
rs375343084	p.Thr369Lys	missense variant	-	NC_000005.10:g.150132771G>T	ESP,ExAC,TOPMed,gnomAD
rs1399784936	p.Arg370His	missense variant	-	NC_000005.10:g.150132768C>T	TOPMed,gnomAD
rs1399784936	p.Arg370Leu	missense variant	-	NC_000005.10:g.150132768C>A	TOPMed,gnomAD
rs200684708	p.Arg370Ser	missense variant	-	NC_000005.10:g.150132769G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200684708	p.Arg370Cys	missense variant	-	NC_000005.10:g.150132769G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs371975483	p.Val372Met	missense variant	-	NC_000005.10:g.150132763C>T	ESP,ExAC,TOPMed,gnomAD
rs769483792	p.Ser373Trp	missense variant	-	NC_000005.10:g.150132759G>C	ExAC,TOPMed,gnomAD
rs769483792	p.Ser373Leu	missense variant	-	NC_000005.10:g.150132759G>A	ExAC,TOPMed,gnomAD
rs1244335026	p.Thr375Ile	missense variant	-	NC_000005.10:g.150132753G>A	gnomAD
rs1442264858	p.Arg376Gln	missense variant	-	NC_000005.10:g.150132750C>T	gnomAD
rs142621427	p.Arg376Trp	missense variant	-	NC_000005.10:g.150132751G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs768431684	p.Thr382Ile	missense variant	-	NC_000005.10:g.150132077G>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu383Arg	missense variant	-	NC_000005.10:g.150132074A>C	NCI-TCGA
rs1167658274	p.Arg385Cys	missense variant	-	NC_000005.10:g.150132069G>A	gnomAD
rs375122221	p.Arg385Pro	missense variant	-	NC_000005.10:g.150132068C>G	ESP,ExAC,gnomAD
rs375122221	p.Arg385His	missense variant	-	NC_000005.10:g.150132068C>T	ESP,ExAC,gnomAD
rs541469612	p.Val386Met	missense variant	-	NC_000005.10:g.150132066C>T	TOPMed,gnomAD
rs541469612	p.Val386Leu	missense variant	-	NC_000005.10:g.150132066C>G	TOPMed,gnomAD
rs1270152563	p.Lys387Arg	missense variant	-	NC_000005.10:g.150132062T>C	TOPMed
rs778805941	p.Lys387Asn	missense variant	-	NC_000005.10:g.150132061C>A	ExAC,gnomAD
rs756251957	p.Ala389Pro	missense variant	-	NC_000005.10:g.150132057C>G	ExAC,TOPMed,gnomAD
rs756251957	p.Ala389Thr	missense variant	-	NC_000005.10:g.150132057C>T	ExAC,TOPMed,gnomAD
COSM3852739	p.Glu390Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150132054C>T	NCI-TCGA Cosmic
rs1449303846	p.His393Arg	missense variant	-	NC_000005.10:g.150132044T>C	gnomAD
COSM6102832	p.His393Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150132044T>G	NCI-TCGA Cosmic
rs781190777	p.Thr395Ile	missense variant	-	NC_000005.10:g.150132038G>A	ExAC,gnomAD
rs751766664	p.Arg397Gln	missense variant	-	NC_000005.10:g.150132032C>T	ExAC,TOPMed,gnomAD
rs377445092	p.Arg397Trp	missense variant	-	NC_000005.10:g.150132033G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3994115	p.Ala398Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150132029G>T	NCI-TCGA Cosmic
rs1201443547	p.Ala398Thr	missense variant	-	NC_000005.10:g.150132030C>T	TOPMed
rs766693794	p.Phe399Cys	missense variant	-	NC_000005.10:g.150132026A>C	ExAC,gnomAD
rs1375825791	p.Phe399Leu	missense variant	-	NC_000005.10:g.150132025G>C	gnomAD
COSM1064298	p.Ala403Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150132014G>A	NCI-TCGA Cosmic
rs1269475186	p.Glu404Gly	missense variant	-	NC_000005.10:g.150132011T>C	TOPMed
rs374802057	p.Gln406Arg	missense variant	-	NC_000005.10:g.150132005T>C	ESP,ExAC,TOPMed,gnomAD
rs200203294	p.Ser408Cys	missense variant	-	NC_000005.10:g.150131999G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1462400450	p.Gln410Ter	stop gained	-	NC_000005.10:g.150131994G>A	gnomAD
NCI-TCGA novel	p.Asn414Thr	missense variant	-	NC_000005.10:g.150131981T>G	NCI-TCGA
rs1282693161	p.Arg418Ter	stop gained	-	NC_000005.10:g.150130654G>A	gnomAD
rs371365227	p.Arg418Gln	missense variant	-	NC_000005.10:g.150130653C>T	ESP,ExAC,TOPMed,gnomAD
COSM3852738	p.Leu422Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150130642G>C	NCI-TCGA Cosmic
rs759129025	p.Ser425Gly	missense variant	-	NC_000005.10:g.150130633T>C	ExAC,TOPMed,gnomAD
rs774153485	p.His426Pro	missense variant	-	NC_000005.10:g.150130629T>G	ExAC,gnomAD
rs199873101	p.Pro427Ser	missense variant	-	NC_000005.10:g.150130627G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser429Cys	missense variant	-	NC_000005.10:g.150130621T>A	NCI-TCGA
rs762918648	p.Gly430Arg	missense variant	-	NC_000005.10:g.150130618C>T	ExAC,gnomAD
COSM3919353	p.Glu431Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150130615C>T	NCI-TCGA Cosmic
rs773179772	p.Thr433Arg	missense variant	-	NC_000005.10:g.150130608G>C	ExAC,TOPMed,gnomAD
rs1014568373	p.Val434Ala	missense variant	-	NC_000005.10:g.150130605A>G	TOPMed,gnomAD
rs747109578	p.Arg435Cys	missense variant	-	NC_000005.10:g.150130603G>A	ExAC,TOPMed,gnomAD
rs904740973	p.Arg435His	missense variant	-	NC_000005.10:g.150130602C>T	gnomAD
rs772355478	p.Arg437Cys	missense variant	-	NC_000005.10:g.150130597G>A	ExAC,TOPMed,gnomAD
COSM449099	p.Arg437His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150130596C>T	NCI-TCGA Cosmic
rs746042729	p.Arg439Gln	missense variant	-	NC_000005.10:g.150130590C>T	ExAC,TOPMed,gnomAD
rs1013933182	p.Arg439Trp	missense variant	-	NC_000005.10:g.150130591G>A	TOPMed,gnomAD
rs746042729	p.Arg439Pro	missense variant	-	NC_000005.10:g.150130590C>G	ExAC,TOPMed,gnomAD
rs757670561	p.Met441Thr	missense variant	-	NC_000005.10:g.150130584A>G	ExAC,gnomAD
NCI-TCGA novel	p.Gln443Ter	stop gained	-	NC_000005.10:g.150130579G>A	NCI-TCGA
rs1480384731	p.Pro444Leu	missense variant	-	NC_000005.10:g.150130575G>A	gnomAD
rs1211844128	p.Pro444Ser	missense variant	-	NC_000005.10:g.150130576G>A	TOPMed,gnomAD
rs1211844128	p.Pro444Ala	missense variant	-	NC_000005.10:g.150130576G>C	TOPMed,gnomAD
RCV000658217	p.Pro444Ala	missense variant	-	NC_000005.10:g.150130576G>C	ClinVar
rs1318048844	p.Ile446Thr	missense variant	-	NC_000005.10:g.150130569A>G	TOPMed,gnomAD
rs778336670	p.Ile446Val	missense variant	-	NC_000005.10:g.150130570T>C	ExAC,TOPMed,gnomAD
rs778336670	p.Ile446Phe	missense variant	-	NC_000005.10:g.150130570T>A	ExAC,TOPMed,gnomAD
rs756509220	p.Ile447Val	missense variant	-	NC_000005.10:g.150130567T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser449Pro	missense variant	-	NC_000005.10:g.150130561A>G	NCI-TCGA
RCV000705837	p.Ser449Phe	missense variant	Infantile myofibromatosis 1 (IMF1)	NC_000005.10:g.150130560G>A	ClinVar
rs1312583190	p.Ser449Phe	missense variant	-	NC_000005.10:g.150130560G>A	gnomAD
rs533669173	p.Ala450Val	missense variant	-	NC_000005.10:g.150130557G>A	1000Genomes,TOPMed,gnomAD
rs1231850359	p.Ala450Thr	missense variant	-	NC_000005.10:g.150130558C>T	gnomAD
rs752263132	p.Arg452Gly	missense variant	-	NC_000005.10:g.150130552T>C	ExAC,gnomAD
COSM449098	p.Asp453Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150130547G>T	NCI-TCGA Cosmic
rs759216802	p.Leu454Phe	missense variant	-	NC_000005.10:g.150130546G>A	ExAC,gnomAD
rs780793425	p.Arg456Ser	missense variant	-	NC_000005.10:g.150129968C>A	ExAC,gnomAD
rs1442967717	p.Cys457Gly	missense variant	-	NC_000005.10:g.150129967A>C	gnomAD
rs1395004196	p.Pro458Arg	missense variant	-	NC_000005.10:g.150129963G>C	gnomAD
COSM3612477	p.Pro458Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150129964G>A	NCI-TCGA Cosmic
rs149274963	p.Arg459His	missense variant	-	NC_000005.10:g.150129960C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs571553115	p.Arg459Cys	missense variant	-	NC_000005.10:g.150129961G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1240381266	p.Glu460Ala	missense variant	-	NC_000005.10:g.150129957T>G	TOPMed
rs202179598	p.Glu460Lys	missense variant	-	NC_000005.10:g.150129958C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs372793684	p.Pro462Leu	missense variant	-	NC_000005.10:g.150129951G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro463Leu	missense variant	-	NC_000005.10:g.150129948G>A	NCI-TCGA
rs74943037	p.Thr464Arg	missense variant	-	NC_000005.10:g.150129945G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000538137	p.Thr464Met	missense variant	Infantile myofibromatosis 1 (IMF1)	NC_000005.10:g.150129945G>A	ClinVar
rs74943037	p.Thr464Met	missense variant	-	NC_000005.10:g.150129945G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776406062	p.Gly467Arg	missense variant	-	NC_000005.10:g.150129937C>T	ExAC,TOPMed,gnomAD
rs375139942	p.Ser469Arg	missense variant	-	NC_000005.10:g.150129929A>T	ESP,gnomAD
rs759681074	p.Ser469Asn	missense variant	-	NC_000005.10:g.150129930C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser470Phe	missense variant	-	NC_000005.10:g.150129927G>A	NCI-TCGA
rs1450397504	p.Ser470Cys	missense variant	-	NC_000005.10:g.150129927G>C	gnomAD
rs914677813	p.Glu471Lys	missense variant	-	NC_000005.10:g.150129925C>T	gnomAD
rs371842708	p.Glu472Val	missense variant	-	NC_000005.10:g.150129921T>A	ESP,gnomAD
rs778195829	p.Leu476Met	missense variant	-	NC_000005.10:g.150129910G>T	ExAC,TOPMed,gnomAD
rs773656622	p.Glu477Asp	missense variant	-	NC_000005.10:g.150129905C>G	ExAC,TOPMed,gnomAD
rs1386853940	p.Thr478Ile	missense variant	-	NC_000005.10:g.150129903G>A	TOPMed,gnomAD
rs1386853940	p.Thr478Ser	missense variant	-	NC_000005.10:g.150129903G>C	TOPMed,gnomAD
rs371550567	p.Asn479Lys	missense variant	-	NC_000005.10:g.150129899G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs146931547	p.Val480Met	missense variant	-	NC_000005.10:g.150129898C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146931547	p.Val480Leu	missense variant	-	NC_000005.10:g.150129898C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs758072563	p.Thr481Met	missense variant	-	NC_000005.10:g.150129894G>A	ExAC,gnomAD
rs779484502	p.Thr481Pro	missense variant	-	NC_000005.10:g.150129895T>G	ExAC,gnomAD
rs765124485	p.Glu484Lys	missense variant	-	NC_000005.10:g.150129886C>T	ExAC,gnomAD
rs41287110	p.Glu485Lys	missense variant	-	NC_000005.10:g.150129883C>T	UniProt,dbSNP
VAR_042028	p.Glu485Lys	missense variant	-	NC_000005.10:g.150129883C>T	UniProt
rs41287110	p.Glu485Lys	missense variant	-	NC_000005.10:g.150129883C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000547910	p.Glu485Lys	missense variant	Infantile myofibromatosis 1 (IMF1)	NC_000005.10:g.150129883C>T	ClinVar
rs764129390	p.Glu486Asp	missense variant	-	NC_000005.10:g.150129878C>G	ExAC,TOPMed,gnomAD
rs760629984	p.Glu488Lys	missense variant	-	NC_000005.10:g.150129874C>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu490Lys	missense variant	-	NC_000005.10:g.150129868C>T	NCI-TCGA
RCV000650691	p.Val491Ala	missense variant	Infantile myofibromatosis 1 (IMF1)	NC_000005.10:g.150129864A>G	ClinVar
rs540480924	p.Val491Ala	missense variant	-	NC_000005.10:g.150129864A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs773284031	p.Arg496His	missense variant	-	NC_000005.10:g.150129849C>T	ExAC,gnomAD
rs1225116257	p.Arg496Cys	missense variant	-	NC_000005.10:g.150129850G>A	gnomAD
rs770252245	p.Gln498Ter	stop gained	-	NC_000005.10:g.150129844G>A	ExAC,gnomAD
rs776914915	p.Val500Met	missense variant	-	NC_000005.10:g.150129838C>T	ExAC,TOPMed,gnomAD
rs1311234574	p.Asp501Tyr	missense variant	-	NC_000005.10:g.150129835C>A	gnomAD
RCV000526323	p.Arg502Gln	missense variant	Infantile myofibromatosis 1 (IMF1)	NC_000005.10:g.150129831C>T	ClinVar
rs148974733	p.Arg502Gln	missense variant	-	NC_000005.10:g.150129831C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142992960	p.Arg502Trp	missense variant	-	NC_000005.10:g.150129832G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs367611195	p.Ser505Leu	missense variant	-	NC_000005.10:g.150129822G>A	ESP,ExAC,TOPMed,gnomAD
rs79387608	p.Val506Ala	missense variant	-	NC_000005.10:g.150129819A>G	ExAC,gnomAD
rs79387608	p.Val506Gly	missense variant	-	NC_000005.10:g.150129819A>C	ExAC,gnomAD
rs79387608	p.Val506Glu	missense variant	-	NC_000005.10:g.150129819A>T	ExAC,gnomAD
rs145823245	p.Arg507His	missense variant	-	NC_000005.10:g.150129816C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756150324	p.Arg507Cys	missense variant	-	NC_000005.10:g.150129817G>A	ExAC,TOPMed,gnomAD
rs766614995	p.Thr509Met	missense variant	-	NC_000005.10:g.150129810G>A	ExAC,TOPMed,gnomAD
rs765383598	p.Arg511Cys	missense variant	-	NC_000005.10:g.150129805G>A	ExAC,TOPMed,gnomAD
rs1232469262	p.Arg511His	missense variant	-	NC_000005.10:g.150129804C>T	gnomAD
rs762039865	p.Asn512Ser	missense variant	-	NC_000005.10:g.150129801T>C	ExAC,TOPMed,gnomAD
rs768971476	p.Ala513Pro	missense variant	-	NC_000005.10:g.150129799C>G	ExAC,TOPMed,gnomAD
rs768971476	p.Ala513Thr	missense variant	-	NC_000005.10:g.150129799C>T	ExAC,TOPMed,gnomAD
rs1328302013	p.Thr518Ala	missense variant	-	NC_000005.10:g.150129784T>C	gnomAD
rs753978428	p.Thr518Met	missense variant	-	NC_000005.10:g.150129783G>A	ExAC,TOPMed,gnomAD
rs374412074	p.Val523Met	missense variant	-	NC_000005.10:g.150129769C>T	ESP,ExAC,TOPMed,gnomAD
rs1180371553	p.His526Tyr	missense variant	-	NC_000005.10:g.150129760G>A	gnomAD
rs1475343244	p.Ser527Pro	missense variant	-	NC_000005.10:g.150129757A>G	gnomAD
rs1369433730	p.Pro529Thr	missense variant	-	NC_000005.10:g.150126609G>T	gnomAD
rs1348611914	p.Phe530Val	missense variant	-	NC_000005.10:g.150126606A>C	gnomAD
RCV000454368	p.Leu539Arg	insertion	Infantile myofibromatosis (IMF)	NC_000005.10:g.150126578_150126579insATC	ClinVar
COSM462038	p.Ala540Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150126575G>A	NCI-TCGA Cosmic
rs1315828107	p.Ala540Gly	missense variant	-	NC_000005.10:g.150126575G>C	gnomAD
rs1191693413	p.Thr545Ile	missense variant	-	NC_000005.10:g.150126560G>A	TOPMed,gnomAD
rs1396830134	p.Thr545Ala	missense variant	-	NC_000005.10:g.150126561T>C	gnomAD
rs373049018	p.Ile546Val	missense variant	-	NC_000005.10:g.150126558T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753022858	p.Ile547Val	missense variant	-	NC_000005.10:g.150126555T>C	ExAC,gnomAD
rs576771944	p.Leu552Phe	missense variant	-	NC_000005.10:g.150126540G>A	ExAC,TOPMed,gnomAD
rs576771944	p.Leu552Ile	missense variant	-	NC_000005.10:g.150126540G>T	ExAC,TOPMed,gnomAD
rs1210272407	p.Met554Val	missense variant	-	NC_000005.10:g.150126534T>C	gnomAD
NCI-TCGA novel	p.Leu555Ile	missense variant	-	NC_000005.10:g.150126531G>T	NCI-TCGA
rs774899102	p.Leu555Val	missense variant	-	NC_000005.10:g.150126531G>C	ExAC,gnomAD
rs1306356528	p.Leu555Pro	missense variant	-	NC_000005.10:g.150126530A>G	gnomAD
rs1220282832	p.Lys558Glu	missense variant	-	NC_000005.10:g.150126522T>C	gnomAD
rs1356869976	p.Lys559Glu	missense variant	-	NC_000005.10:g.150125577T>C	gnomAD
rs1375143929	p.Arg561His	missense variant	-	NC_000005.10:g.150125570C>T	TOPMed
rs367543286	p.Arg561Cys	missense variant	-	NC_000005.10:g.150125571G>A	-
rs367543286	p.Arg561Cys	missense variant	Myofibromatosis, infantile 1 (IMF1)	NC_000005.10:g.150125571G>A	UniProt,dbSNP
VAR_069925	p.Arg561Cys	missense variant	Myofibromatosis, infantile 1 (IMF1)	NC_000005.10:g.150125571G>A	UniProt
RCV000390507	p.Arg561Cys	missense variant	-	NC_000005.10:g.150125571G>A	ClinVar
RCV000454370	p.Arg561Cys	missense variant	Infantile myofibromatosis (IMF)	NC_000005.10:g.150125571G>A	ClinVar
RCV000049264	p.Arg561Cys	missense variant	Infantile myofibromatosis 1 (IMF1)	NC_000005.10:g.150125571G>A	ClinVar
rs1483057981	p.Glu563Lys	missense variant	-	NC_000005.10:g.150125565C>T	TOPMed,gnomAD
rs1460983846	p.Arg565Ter	stop gained	-	NC_000005.10:g.150125559G>A	gnomAD
rs140081345	p.Arg565Gln	missense variant	-	NC_000005.10:g.150125558C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1060499542	p.Trp566Arg	missense variant	-	NC_000005.10:g.150125556A>G	-
RCV000622279	p.Trp566Arg	missense variant	Inborn genetic diseases	NC_000005.10:g.150125556A>G	ClinVar
rs1554108389	p.Lys567Glu	missense variant	-	NC_000005.10:g.150125553T>C	-
RCV000498591	p.Lys567Glu	missense variant	Infantile myofibromatosis 1 (IMF1)	NC_000005.10:g.150125553T>C	ClinVar
COSM3852736	p.Glu570Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150125543T>G	NCI-TCGA Cosmic
rs376202121	p.Ile580Val	missense variant	-	NC_000005.10:g.150125514T>C	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Tyr581Cys	missense variant	-	NC_000005.10:g.150125510T>C	NCI-TCGA
rs1296812685	p.Val582Met	missense variant	-	NC_000005.10:g.150125508C>T	TOPMed
rs863224946	p.Pro584Arg	missense variant	-	NC_000005.10:g.150125501G>C	-
RCV000200957	p.Pro584Arg	missense variant	Kosaki overgrowth syndrome (KOGS)	NC_000005.10:g.150125501G>C	ClinVar
rs768416368	p.Met585Ile	missense variant	-	NC_000005.10:g.150125497C>T	ExAC,gnomAD
rs1258478109	p.Met585Thr	missense variant	-	NC_000005.10:g.150125498A>G	gnomAD
rs1339375799	p.Gln586His	missense variant	-	NC_000005.10:g.150125494C>A	TOPMed
rs1231735690	p.Pro588Ser	missense variant	-	NC_000005.10:g.150125490G>A	gnomAD
VAR_042029	p.Tyr589His	Missense	-	-	UniProt
rs1323185629	p.Asp590Asn	missense variant	-	NC_000005.10:g.150125484C>T	gnomAD
rs771835513	p.Thr592Met	missense variant	-	NC_000005.10:g.150125477G>A	ExAC,TOPMed,gnomAD
rs771835513	p.Thr592Lys	missense variant	-	NC_000005.10:g.150125477G>T	ExAC,TOPMed,gnomAD
rs1231790209	p.Trp593Ter	stop gained	-	NC_000005.10:g.150125473C>T	gnomAD
rs770027941	p.Trp593Arg	missense variant	-	NC_000005.10:g.150125475A>G	ExAC,gnomAD
COSM1310844	p.Glu594Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150125471T>C	NCI-TCGA Cosmic
rs748119964	p.Pro596Leu	missense variant	-	NC_000005.10:g.150125465G>A	ExAC,gnomAD
rs1222946958	p.Arg597Gln	missense variant	-	NC_000005.10:g.150125462C>T	gnomAD
NCI-TCGA novel	p.Arg597Leu	missense variant	-	NC_000005.10:g.150125462C>A	NCI-TCGA
rs1370532697	p.Asp598Asn	missense variant	-	NC_000005.10:g.150125460C>T	gnomAD
rs1299853847	p.Gln599His	missense variant	-	NC_000005.10:g.150125455C>A	gnomAD
rs1462762018	p.Gly603Arg	missense variant	-	NC_000005.10:g.150125445C>T	gnomAD
rs541926152	p.Arg604Gly	missense variant	-	NC_000005.10:g.150124829G>C	ExAC,TOPMed,gnomAD
rs752228799	p.Arg604His	missense variant	-	NC_000005.10:g.150124828C>T	ExAC,gnomAD
rs541926152	p.Arg604Cys	missense variant	-	NC_000005.10:g.150124829G>A	ExAC,TOPMed,gnomAD
rs767386222	p.Thr605Ile	missense variant	-	NC_000005.10:g.150124825G>A	ExAC,gnomAD
rs767386222	p.Thr605Asn	missense variant	-	NC_000005.10:g.150124825G>T	ExAC,gnomAD
rs1420457092	p.Ser608Tyr	missense variant	-	NC_000005.10:g.150124816G>T	gnomAD
rs762706138	p.Gln613Arg	missense variant	-	NC_000005.10:g.150124801T>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu616Gln	missense variant	-	NC_000005.10:g.150124793C>G	NCI-TCGA
rs139554380	p.Thr618Met	missense variant	-	NC_000005.10:g.150124786G>A	ESP,ExAC,TOPMed,gnomAD
rs139554380	p.Thr618Arg	missense variant	-	NC_000005.10:g.150124786G>C	ESP,ExAC,TOPMed,gnomAD
rs1378675204	p.Thr618Ala	missense variant	-	NC_000005.10:g.150124787T>C	gnomAD
rs1220258280	p.Ala619Val	missense variant	-	NC_000005.10:g.150124783G>A	TOPMed
rs1244596547	p.His620Tyr	missense variant	-	NC_000005.10:g.150124781G>A	TOPMed
COSM3410001	p.His620Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150124780T>A	NCI-TCGA Cosmic
rs1201625387	p.Ala627Val	missense variant	-	NC_000005.10:g.150124759G>A	gnomAD
rs779617771	p.Ala627Thr	missense variant	-	NC_000005.10:g.150124760C>T	ExAC,gnomAD
rs1250625415	p.Thr628Met	missense variant	-	NC_000005.10:g.150124756G>A	TOPMed,gnomAD
rs1342136227	p.Met629Arg	missense variant	-	NC_000005.10:g.150124753A>C	gnomAD
NCI-TCGA novel	p.Val631Met	missense variant	-	NC_000005.10:g.150124748C>T	NCI-TCGA
rs1280379086	p.Ala632Val	missense variant	-	NC_000005.10:g.150124744G>A	gnomAD
rs780819031	p.Val633Ile	missense variant	-	NC_000005.10:g.150124742C>T	ExAC,TOPMed,gnomAD
rs756569804	p.Ser638Cys	missense variant	-	NC_000005.10:g.150124360G>C	ExAC,gnomAD
rs201183721	p.Arg641Cys	missense variant	-	NC_000005.10:g.150124352G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs56339845	p.Arg641His	missense variant	-	NC_000005.10:g.150124351C>T	ExAC,TOPMed,gnomAD
COSM1435158	p.Ser642Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150124348C>T	NCI-TCGA Cosmic
rs1231480262	p.Ser642Gly	missense variant	-	NC_000005.10:g.150124349T>C	TOPMed
rs1472863128	p.Glu644Lys	missense variant	-	NC_000005.10:g.150124343C>T	gnomAD
rs1362685432	p.Lys645Arg	missense variant	-	NC_000005.10:g.150124339T>C	gnomAD
rs766289548	p.Ala647Thr	missense variant	-	NC_000005.10:g.150124334C>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu648Phe	missense variant	-	NC_000005.10:g.150124331G>A	NCI-TCGA
rs758280032	p.Ser650Leu	missense variant	-	NC_000005.10:g.150124324G>A	ExAC,gnomAD
rs758280032	p.Ser650Ter	stop gained	-	NC_000005.10:g.150124324G>T	ExAC,gnomAD
rs148655406	p.Lys653Arg	missense variant	-	NC_000005.10:g.150124315T>C	ESP,ExAC,TOPMed,gnomAD
rs1357207675	p.Met655Val	missense variant	-	NC_000005.10:g.150124310T>C	TOPMed,gnomAD
rs1357207675	p.Met655Leu	missense variant	-	NC_000005.10:g.150124310T>G	TOPMed,gnomAD
rs1279062746	p.Ser656Gly	missense variant	-	NC_000005.10:g.150124307T>C	gnomAD
rs1238005056	p.Ser656Asn	missense variant	-	NC_000005.10:g.150124306C>T	gnomAD
NCI-TCGA novel	p.Ser656Arg	missense variant	-	NC_000005.10:g.150124305A>T	NCI-TCGA
rs397509381	p.Leu658Pro	missense variant	Basal ganglia calcification, idiopathic, 4 (IBGC4)	NC_000005.10:g.150124300A>G	UniProt,dbSNP
VAR_069320	p.Leu658Pro	missense variant	Basal ganglia calcification, idiopathic, 4 (IBGC4)	NC_000005.10:g.150124300A>G	UniProt
rs397509381	p.Leu658Pro	missense variant	-	NC_000005.10:g.150124300A>G	-
rs767886107	p.Leu658Phe	missense variant	-	NC_000005.10:g.150124301G>A	ExAC,gnomAD
RCV000032788	p.Leu658Pro	missense variant	Basal ganglia calcification, idiopathic, 4 (IBGC4)	NC_000005.10:g.150124300A>G	ClinVar
rs144050370	p.Pro660Thr	missense variant	-	NC_000005.10:g.150124295G>T	ESP,ExAC,TOPMed,gnomAD
RCV000049265	p.Pro660Thr	missense variant	Infantile myofibromatosis 1 (IMF1)	NC_000005.10:g.150124295G>T	ClinVar
rs763366149	p.Leu662Val	missense variant	-	NC_000005.10:g.150124289G>C	ExAC,gnomAD
rs770122404	p.Val664Leu	missense variant	-	NC_000005.10:g.150124283C>A	ExAC,TOPMed,gnomAD
rs770122404	p.Val664Leu	missense variant	-	NC_000005.10:g.150124283C>G	ExAC,TOPMed,gnomAD
rs770122404	p.Val664Met	missense variant	-	NC_000005.10:g.150124283C>T	ExAC,TOPMed,gnomAD
rs1554108211	p.Val665Ala	missense variant	-	NC_000005.10:g.150124279A>G	-
rs1554108211	p.Val665Ala	missense variant	Premature aging syndrome, Penttinen type (PENTT)	NC_000005.10:g.150124279A>G	UniProt,dbSNP
VAR_075866	p.Val665Ala	missense variant	Premature aging syndrome, Penttinen type (PENTT)	NC_000005.10:g.150124279A>G	UniProt
RCV000585893	p.Val665Ala	missense variant	Premature aging syndrome, Penttinen type (PENTT)	NC_000005.10:g.150124279A>G	ClinVar
rs797044887	p.Asn666His	missense variant	-	NC_000005.10:g.150124277T>G	-
rs864309711	p.Asn666Lys	missense variant	-	NC_000005.10:g.150124275G>C	-
RCV000203292	p.Asn666Lys	missense variant	Infantile myofibromatosis 1 (IMF1)	NC_000005.10:g.150124275G>T	ClinVar
RCV000454372	p.Asn666Lys	missense variant	Infantile myofibromatosis (IMF)	NC_000005.10:g.150124275G>C	ClinVar
RCV000190709	p.Asn666His	missense variant	Inborn genetic diseases	NC_000005.10:g.150124277T>G	ClinVar
rs864309711	p.Asn666Lys	missense variant	-	NC_000005.10:g.150124275G>T	-
COSM3723008	p.Leu667Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150124274G>T	NCI-TCGA Cosmic
rs768318526	p.Leu668Met	missense variant	-	NC_000005.10:g.150124271A>T	ExAC,gnomAD
COSM737243	p.Cys671Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150124261C>T	NCI-TCGA Cosmic
rs1248220427	p.Thr672Ile	missense variant	-	NC_000005.10:g.150124258G>A	gnomAD
rs1221972730	p.Lys673Arg	missense variant	-	NC_000005.10:g.150124255T>C	gnomAD
rs1389426768	p.Gly674Glu	missense variant	-	NC_000005.10:g.150124252C>T	TOPMed
rs779431081	p.Gly674Arg	missense variant	-	NC_000005.10:g.150124253C>T	ExAC,TOPMed,gnomAD
rs1283745894	p.Gly675Arg	missense variant	-	NC_000005.10:g.150124250C>T	gnomAD
rs1176688330	p.Gly675Glu	missense variant	-	NC_000005.10:g.150123201C>T	TOPMed,gnomAD
rs1409226944	p.Tyr678Ter	stop gained	-	NC_000005.10:g.150123191A>C	gnomAD
rs200986052	p.Arg685His	missense variant	-	NC_000005.10:g.150123171C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs763239423	p.Arg685Cys	missense variant	-	NC_000005.10:g.150123172G>A	ExAC,TOPMed,gnomAD
rs757278048	p.Tyr686Cys	missense variant	-	NC_000005.10:g.150123168T>C	ExAC,gnomAD
COSM5918789	p.Gly687Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150123165C>T	NCI-TCGA Cosmic
rs777708927	p.Gly687Arg	missense variant	-	NC_000005.10:g.150123166C>G	ExAC,gnomAD
rs777708927	p.Gly687Arg	missense variant	-	NC_000005.10:g.150123166C>T	ExAC,gnomAD
rs756032678	p.Asp688Gly	missense variant	-	NC_000005.10:g.150123162T>C	ExAC,gnomAD
rs1249635203	p.Asp688Asn	missense variant	-	NC_000005.10:g.150123163C>T	gnomAD
rs766665377	p.Asp691Asn	missense variant	-	NC_000005.10:g.150123154C>T	ExAC,gnomAD
rs765673602	p.His694Arg	missense variant	-	NC_000005.10:g.150123144T>C	ExAC,gnomAD
rs750537901	p.His694Tyr	missense variant	-	NC_000005.10:g.150123145G>A	ExAC,TOPMed,gnomAD
rs138008832	p.Arg695Ser	missense variant	-	NC_000005.10:g.150123142G>T	ESP,ExAC,TOPMed,gnomAD
rs375978065	p.Arg695Pro	missense variant	-	NC_000005.10:g.150123141C>G	ESP,ExAC,TOPMed,gnomAD
rs375978065	p.Arg695His	missense variant	-	NC_000005.10:g.150123141C>T	ESP,ExAC,TOPMed,gnomAD
RCV000128554	p.Arg695Cys	missense variant	Basal ganglia calcification, idiopathic, 4 (IBGC4)	NC_000005.10:g.150123142G>A	ClinVar
rs138008832	p.Arg695Cys	missense variant	-	NC_000005.10:g.150123142G>A	ESP,ExAC,TOPMed,gnomAD
rs1212152922	p.His698Gln	missense variant	-	NC_000005.10:g.150123131G>T	gnomAD
rs1212152922	p.His698Gln	missense variant	-	NC_000005.10:g.150123131G>C	gnomAD
rs1465893615	p.Thr699Ile	missense variant	-	NC_000005.10:g.150123129G>A	gnomAD
rs200834112	p.Thr699Ala	missense variant	-	NC_000005.10:g.150123130T>C	1000Genomes
rs745312913	p.Gln702Lys	missense variant	-	NC_000005.10:g.150123121G>T	ExAC,gnomAD
rs112292721	p.Ser705Pro	missense variant	-	NC_000005.10:g.150123112A>G	gnomAD
rs770635073	p.Asp706Asn	missense variant	-	NC_000005.10:g.150123109C>T	ExAC,TOPMed,gnomAD
rs200519248	p.Arg708His	missense variant	-	NC_000005.10:g.150123102C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs749226501	p.Arg708Cys	missense variant	-	NC_000005.10:g.150123103G>A	ExAC,TOPMed,gnomAD
COSM737245	p.Arg708Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150123102C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg709Leu	missense variant	-	NC_000005.10:g.150123099C>A	NCI-TCGA
rs759436020	p.Arg709His	missense variant	-	NC_000005.10:g.150123099C>T	ExAC,TOPMed,gnomAD
RCV000174877	p.Arg709His	missense variant	-	NC_000005.10:g.150123099C>T	ClinVar
rs554645092	p.Pro710Leu	missense variant	-	NC_000005.10:g.150123096G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro711His	missense variant	-	NC_000005.10:g.150123093G>T	NCI-TCGA
rs765295196	p.Pro711Leu	missense variant	-	NC_000005.10:g.150123093G>A	ExAC,gnomAD
rs371341863	p.Ala713Thr	missense variant	-	NC_000005.10:g.150123088C>T	ESP,ExAC,TOPMed,gnomAD
rs368867827	p.Ala713Val	missense variant	-	NC_000005.10:g.150123087G>A	ESP,ExAC,TOPMed,gnomAD
RCV000238828	p.Ala713Thr	missense variant	-	NC_000005.10:g.150123088C>T	ClinVar
rs760905425	p.Ser717Asn	missense variant	-	NC_000005.10:g.150123075C>T	ExAC,gnomAD
rs35322465	p.Asn718Tyr	missense variant	-	NC_000005.10:g.150123073T>A	UniProt,dbSNP
VAR_042030	p.Asn718Tyr	missense variant	-	NC_000005.10:g.150123073T>A	UniProt
rs35322465	p.Asn718Tyr	missense variant	-	NC_000005.10:g.150123073T>A	-
rs775940331	p.Asn718Ser	missense variant	-	NC_000005.10:g.150123072T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ala719Pro	missense variant	-	NC_000005.10:g.150123070C>G	NCI-TCGA
COSM737246	p.Ala719Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150123069G>A	NCI-TCGA Cosmic
rs142689325	p.Val722Phe	missense variant	-	NC_000005.10:g.150123061C>A	ESP,ExAC,TOPMed,gnomAD
rs142689325	p.Val722Ile	missense variant	-	NC_000005.10:g.150123061C>T	ESP,ExAC,TOPMed,gnomAD
COSM4477677	p.Pro725Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150123051G>A	NCI-TCGA Cosmic
rs773244332	p.Leu726Val	missense variant	-	NC_000005.10:g.150123049G>C	ExAC,TOPMed,gnomAD
rs1303620698	p.Pro727His	missense variant	-	NC_000005.10:g.150123045G>T	TOPMed
rs1379063670	p.Ser728Cys	missense variant	-	NC_000005.10:g.150123043T>A	gnomAD
rs958226923	p.His729Leu	missense variant	-	NC_000005.10:g.150122038T>A	TOPMed
rs141793092	p.Leu732Trp	missense variant	-	NC_000005.10:g.150122029A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs762504902	p.Gly734Arg	missense variant	-	NC_000005.10:g.150122024C>T	ExAC,TOPMed,gnomAD
rs772861468	p.Gly734Glu	missense variant	-	NC_000005.10:g.150122023C>T	ExAC,gnomAD
COSM6102835	p.Gly734Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150122024C>A	NCI-TCGA Cosmic
rs1319346549	p.Ser736Ile	missense variant	-	NC_000005.10:g.150122017C>A	TOPMed
rs776488990	p.Ser736Arg	missense variant	-	NC_000005.10:g.150122016G>T	ExAC,gnomAD
rs768472954	p.Asp737Asn	missense variant	-	NC_000005.10:g.150122015C>T	ExAC,TOPMed,gnomAD
rs150474738	p.Gly738Ser	missense variant	-	NC_000005.10:g.150122012C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1171332049	p.Met741Thr	missense variant	-	NC_000005.10:g.150122002A>G	TOPMed,gnomAD
rs749301959	p.Met741Val	missense variant	-	NC_000005.10:g.150122003T>C	ExAC,gnomAD
rs1467934103	p.Met743Ile	missense variant	-	NC_000005.10:g.150121995C>T	gnomAD
rs756210461	p.Glu747Lys	missense variant	-	NC_000005.10:g.150121985C>T	ExAC,gnomAD
rs537725629	p.Ser748Leu	missense variant	-	NC_000005.10:g.150121981G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs751996384	p.Val749Glu	missense variant	-	NC_000005.10:g.150121978A>T	ExAC,gnomAD
rs755353819	p.Val749Met	missense variant	-	NC_000005.10:g.150121979C>T	ExAC,gnomAD
rs766073277	p.Asp750Gly	missense variant	-	NC_000005.10:g.150121975T>C	ExAC,gnomAD
NCI-TCGA novel	p.Tyr751Phe	missense variant	-	NC_000005.10:g.150121972T>A	NCI-TCGA
NCI-TCGA novel	p.Tyr751His	missense variant	-	NC_000005.10:g.150121973A>G	NCI-TCGA
rs762698498	p.Tyr751Cys	missense variant	-	NC_000005.10:g.150121972T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Met754CysPheSerTerUnk	frameshift	-	NC_000005.10:g.150121965G>-	NCI-TCGA
rs939822838	p.Leu755Gln	missense variant	-	NC_000005.10:g.150121960A>T	TOPMed
rs933723345	p.Met757Val	missense variant	-	NC_000005.10:g.150121955T>C	TOPMed
rs922382503	p.Met757Arg	missense variant	-	NC_000005.10:g.150121954A>C	TOPMed
RCV000520916	p.Met757Val	missense variant	-	NC_000005.10:g.150121955T>C	ClinVar
rs761275855	p.Gly759Glu	missense variant	-	NC_000005.10:g.150121948C>T	ExAC,gnomAD
rs1316309140	p.Asp760Asn	missense variant	-	NC_000005.10:g.150121946C>T	gnomAD
rs1467726205	p.Asp760Ala	missense variant	-	NC_000005.10:g.150121945T>G	TOPMed
rs747659448	p.Val761Ile	missense variant	-	NC_000005.10:g.150121943C>T	ExAC,TOPMed,gnomAD
rs760410463	p.Ala764Gly	missense variant	-	NC_000005.10:g.150121933G>C	ExAC,gnomAD
rs771923448	p.Glu767Lys	missense variant	-	NC_000005.10:g.150121925C>T	ExAC,TOPMed,gnomAD
rs769886643	p.Asn770Lys	missense variant	-	NC_000005.10:g.150121914G>T	ExAC,TOPMed,gnomAD
rs200197608	p.Ala773Val	missense variant	-	NC_000005.10:g.150121906G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200197608	p.Ala773Asp	missense variant	-	NC_000005.10:g.150121906G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs751904503	p.Asp776Asn	missense variant	-	NC_000005.10:g.150121898C>T	ExAC,TOPMed,gnomAD
rs1424362830	p.Tyr778Cys	missense variant	-	NC_000005.10:g.150121891T>C	gnomAD
rs758890727	p.Val779Ile	missense variant	-	NC_000005.10:g.150121889C>T	ExAC,TOPMed,gnomAD
rs750066915	p.Pro780Thr	missense variant	-	NC_000005.10:g.150121886G>T	ExAC,gnomAD
rs1359322474	p.Pro783Thr	missense variant	-	NC_000005.10:g.150121320G>T	gnomAD
rs759326287	p.Thr786Ala	missense variant	-	NC_000005.10:g.150121311T>C	ExAC,TOPMed,gnomAD
rs774032065	p.Arg788Gln	missense variant	-	NC_000005.10:g.150121304C>T	ExAC,TOPMed,gnomAD
rs1320275282	p.Arg788Ter	stop gained	-	NC_000005.10:g.150121305G>A	TOPMed,gnomAD
RCV000624900	p.Arg788Ter	nonsense	Inborn genetic diseases	NC_000005.10:g.150121305G>A	ClinVar
rs1476912372	p.Ala789Val	missense variant	-	NC_000005.10:g.150121301G>A	gnomAD
rs190620156	p.Ala789Ser	missense variant	-	NC_000005.10:g.150121302C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs768833854	p.Asn793Ser	missense variant	-	NC_000005.10:g.150121289T>C	ExAC,gnomAD
rs765478860	p.Glu794Lys	missense variant	-	NC_000005.10:g.150121287C>T	ExAC,gnomAD
rs1285503815	p.Ser795Phe	missense variant	-	NC_000005.10:g.150121283G>A	gnomAD
rs746183352	p.Pro796Leu	missense variant	-	NC_000005.10:g.150121280G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro796Ser	missense variant	-	NC_000005.10:g.150121281G>A	NCI-TCGA
rs746183352	p.Pro796Arg	missense variant	-	NC_000005.10:g.150121280G>C	ExAC,gnomAD
rs757702025	p.Val797Leu	missense variant	-	NC_000005.10:g.150121278C>A	ExAC,gnomAD
rs1284973433	p.Ser799Arg	missense variant	-	NC_000005.10:g.150121270G>T	TOPMed
rs1339400864	p.Met801Val	missense variant	-	NC_000005.10:g.150121266T>C	gnomAD
rs748872294	p.Met801Ile	missense variant	-	NC_000005.10:g.150121264C>T	ExAC,gnomAD
rs755585100	p.Val804Met	missense variant	-	NC_000005.10:g.150121257C>T	ExAC,TOPMed,gnomAD
COSM3373748	p.Gly805Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150121254C>T	NCI-TCGA Cosmic
rs554704450	p.Val810Ala	missense variant	-	NC_000005.10:g.150121238A>G	ExAC,gnomAD
COSM3919350	p.Val810Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150121239C>T	NCI-TCGA Cosmic
rs781051087	p.Ala811Ser	missense variant	-	NC_000005.10:g.150121236C>A	ExAC,gnomAD
rs781051087	p.Ala811Pro	missense variant	-	NC_000005.10:g.150121236C>G	ExAC,gnomAD
COSM1064295	p.Ala811Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150121236C>T	NCI-TCGA Cosmic
rs1480906257	p.Gly813Asp	missense variant	-	NC_000005.10:g.150121229C>T	gnomAD
rs1262390516	p.Met814Thr	missense variant	-	NC_000005.10:g.150121226A>G	TOPMed
rs78336563	p.Asn821Lys	missense variant	-	NC_000005.10:g.150121204G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs377442091	p.Val823Ile	missense variant	-	NC_000005.10:g.150121007C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu827Val	missense variant	-	NC_000005.10:g.150120995G>C	NCI-TCGA
NCI-TCGA novel	p.Ala829Thr	missense variant	-	NC_000005.10:g.150120989C>T	NCI-TCGA
rs753032652	p.Val832Met	missense variant	-	NC_000005.10:g.150120980C>T	ExAC,gnomAD
rs774685011	p.Glu836Gly	missense variant	-	NC_000005.10:g.150120967T>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu836Lys	missense variant	-	NC_000005.10:g.150120968C>T	NCI-TCGA
rs1197406325	p.Gly837Asp	missense variant	-	NC_000005.10:g.150120964C>T	TOPMed
NCI-TCGA novel	p.Gly837Cys	missense variant	-	NC_000005.10:g.150120965C>A	NCI-TCGA
NCI-TCGA novel	p.Val840Asp	missense variant	-	NC_000005.10:g.150120955A>T	NCI-TCGA
rs200077894	p.Val840Ile	missense variant	-	NC_000005.10:g.150120956C>T	1000Genomes
rs770212293	p.Cys843Tyr	missense variant	-	NC_000005.10:g.150120946C>T	ExAC,TOPMed,gnomAD
rs1184721015	p.Arg849Gly	missense variant	-	NC_000005.10:g.150120929G>C	TOPMed,gnomAD
COSM1064293	p.Arg849Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.150120929G>A	NCI-TCGA Cosmic
rs770930584	p.Arg849Gln	missense variant	-	NC_000005.10:g.150120928C>T	ExAC,gnomAD
rs1060499540	p.Asp850Val	missense variant	-	NC_000005.10:g.150120925T>A	gnomAD
NCI-TCGA novel	p.Asp850Tyr	missense variant	-	NC_000005.10:g.150120926C>A	NCI-TCGA
rs1060499540	p.Asp850Gly	missense variant	-	NC_000005.10:g.150120925T>C	gnomAD
RCV000454369	p.Asp850Val	missense variant	Infantile myofibromatosis (IMF)	NC_000005.10:g.150120925T>A	ClinVar
rs570277745	p.Ile851Met	missense variant	-	NC_000005.10:g.150120921G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs746559329	p.Ile851Val	missense variant	-	NC_000005.10:g.150120923T>C	ExAC,gnomAD
rs1218819598	p.Arg853Gln	missense variant	-	NC_000005.10:g.150120916C>T	gnomAD
rs778844346	p.Arg853Trp	missense variant	-	NC_000005.10:g.150120917G>A	ExAC,TOPMed,gnomAD
rs1360972085	p.Ser855Thr	missense variant	-	NC_000005.10:g.150120911A>T	gnomAD
rs1292468244	p.Ser855Leu	missense variant	-	NC_000005.10:g.150120910G>A	gnomAD
rs1168573597	p.Tyr857Phe	missense variant	-	NC_000005.10:g.150120904T>A	TOPMed
rs1462633071	p.Ile858Met	missense variant	-	NC_000005.10:g.150120900G>C	TOPMed
rs750896639	p.Thr863Asn	missense variant	-	NC_000005.10:g.150120122G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro866Ser	missense variant	-	NC_000005.10:g.150120114G>A	NCI-TCGA
rs1159721959	p.Lys868Asn	missense variant	-	NC_000005.10:g.150120106C>A	TOPMed
NCI-TCGA novel	p.Ala871Thr	missense variant	-	NC_000005.10:g.150120099C>T	NCI-TCGA
rs777067417	p.Ser874Asn	missense variant	-	NC_000005.10:g.150120089C>T	ExAC,gnomAD
rs78642472	p.Asn877Thr	missense variant	-	NC_000005.10:g.150120080T>G	ExAC,gnomAD
rs760367935	p.Asn877Lys	missense variant	-	NC_000005.10:g.150120079G>T	ExAC,TOPMed,gnomAD
rs771679639	p.Leu879Ile	missense variant	-	NC_000005.10:g.150120075G>T	ExAC,TOPMed,gnomAD
rs1371954207	p.Tyr880Cys	missense variant	-	NC_000005.10:g.150120071T>C	TOPMed
rs1333821635	p.Thr882Ser	missense variant	-	NC_000005.10:g.150120065G>C	TOPMed
VAR_042031	p.Thr882Ile	Missense	-	-	UniProt
NCI-TCGA novel	p.Asp885Asn	missense variant	-	NC_000005.10:g.150120057C>T	NCI-TCGA
rs1301469558	p.Val886Met	missense variant	-	NC_000005.10:g.150120054C>T	gnomAD
NCI-TCGA novel	p.Phe889Leu	missense variant	-	NC_000005.10:g.150120045A>G	NCI-TCGA
COSM3612468	p.Gly890Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150120041C>T	NCI-TCGA Cosmic
rs200865355	p.Thr902Asn	missense variant	-	NC_000005.10:g.150119560G>T	ESP,ExAC,TOPMed,gnomAD
rs200865355	p.Thr902Ile	missense variant	-	NC_000005.10:g.150119560G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr902Ser	missense variant	-	NC_000005.10:g.150119560G>C	NCI-TCGA
RCV000480759	p.Thr902Ile	missense variant	-	NC_000005.10:g.150119560G>A	ClinVar
rs780199485	p.Pro903Leu	missense variant	-	NC_000005.10:g.150119557G>A	ExAC,gnomAD
rs913577228	p.Pro905Ala	missense variant	-	NC_000005.10:g.150119552G>C	TOPMed,gnomAD
rs1456958325	p.Pro905Leu	missense variant	-	NC_000005.10:g.150119551G>A	TOPMed,gnomAD
rs372042979	p.Glu906Gln	missense variant	-	NC_000005.10:g.150119549C>G	ESP,ExAC,TOPMed,gnomAD
rs778955311	p.Glu911Lys	missense variant	-	NC_000005.10:g.150119534C>T	ExAC,TOPMed,gnomAD
rs1436303129	p.Tyr914Cys	missense variant	-	NC_000005.10:g.150119524T>C	gnomAD
rs754345719	p.Asn915Ser	missense variant	-	NC_000005.10:g.150119521T>C	ExAC,gnomAD
rs550187329	p.Arg919Trp	missense variant	-	NC_000005.10:g.150119510G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs145717708	p.Arg919Gln	missense variant	-	NC_000005.10:g.150119509C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs143067190	p.Arg922Cys	missense variant	-	NC_000005.10:g.150119501G>A	ExAC,gnomAD
rs767216776	p.Arg922His	missense variant	-	NC_000005.10:g.150119500C>T	ExAC,gnomAD
rs143067190	p.Arg922Gly	missense variant	-	NC_000005.10:g.150119501G>C	ExAC,gnomAD
COSM1064289	p.Ala924Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150119495C>T	NCI-TCGA Cosmic
rs1360746335	p.His928Arg	missense variant	-	NC_000005.10:g.150119482T>C	gnomAD
rs759258072	p.Asp931Asn	missense variant	-	NC_000005.10:g.150119474C>T	ExAC,TOPMed,gnomAD
rs921756253	p.Glu932Lys	missense variant	-	NC_000005.10:g.150119471C>T	TOPMed,gnomAD
rs751229604	p.Met937Ile	missense variant	-	NC_000005.10:g.150118840C>T	ExAC,TOPMed,gnomAD
rs765981295	p.Gln938Lys	missense variant	-	NC_000005.10:g.150118839G>T	ExAC,gnomAD
rs757873895	p.Cys940Tyr	missense variant	-	NC_000005.10:g.150118832C>T	ExAC,gnomAD
rs1206347379	p.Glu942Gln	missense variant	-	NC_000005.10:g.150118827C>G	TOPMed
rs1467703608	p.Glu943Gln	missense variant	-	NC_000005.10:g.150118824C>G	TOPMed
rs765151152	p.Lys944Arg	missense variant	-	NC_000005.10:g.150118820T>C	ExAC,gnomAD
rs761730723	p.Glu946Asp	missense variant	-	NC_000005.10:g.150118813C>G	ExAC,gnomAD
rs1427389773	p.Ile947Ser	missense variant	-	NC_000005.10:g.150118811A>C	gnomAD
rs776607612	p.Arg948Gln	missense variant	-	NC_000005.10:g.150118808C>T	ExAC,gnomAD
rs1214250173	p.Pro950Leu	missense variant	-	NC_000005.10:g.150118802G>A	gnomAD
rs1214250173	p.Pro950Arg	missense variant	-	NC_000005.10:g.150118802G>C	gnomAD
rs1263157409	p.Pro950Ser	missense variant	-	NC_000005.10:g.150118803G>A	gnomAD
NCI-TCGA novel	p.Phe951SerPheSerTerUnkUnk	frameshift	-	NC_000005.10:g.150118801G>-	NCI-TCGA
NCI-TCGA novel	p.Phe951Ile	missense variant	-	NC_000005.10:g.150118800A>T	NCI-TCGA
rs376007701	p.Ser952Cys	missense variant	-	NC_000005.10:g.150118796G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs376007701	p.Ser952Phe	missense variant	-	NC_000005.10:g.150118796G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs771073581	p.Val955Ala	missense variant	-	NC_000005.10:g.150118787A>G	ExAC,TOPMed,gnomAD
rs1321037719	p.Leu958Phe	missense variant	-	NC_000005.10:g.150118779G>A	gnomAD
rs1321037719	p.Leu958Val	missense variant	-	NC_000005.10:g.150118779G>C	gnomAD
rs769978493	p.Glu959Lys	missense variant	-	NC_000005.10:g.150118776C>T	ExAC,gnomAD
rs748647567	p.Arg960Ile	missense variant	-	NC_000005.10:g.150118772C>A	ExAC,gnomAD
rs781775442	p.Arg960Ser	missense variant	-	NC_000005.10:g.150118771T>A	ExAC,gnomAD
rs748647567	p.Arg960Lys	missense variant	-	NC_000005.10:g.150118772C>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu962Phe	missense variant	-	NC_000005.10:g.150118765C>G	NCI-TCGA
rs1432844976	p.Gly963Asp	missense variant	-	NC_000005.10:g.150118763C>T	gnomAD
rs747398617	p.Glu964Lys	missense variant	-	NC_000005.10:g.150118761C>T	ExAC,TOPMed,gnomAD
COSM4985888	p.Lys968Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150118747C>A	NCI-TCGA Cosmic
rs150600919	p.Tyr970Cys	missense variant	-	NC_000005.10:g.150117846T>C	ESP,ExAC,gnomAD
COSM1064287	p.Gln971Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150117844G>T	NCI-TCGA Cosmic
rs1411722144	p.Gln972Lys	missense variant	-	NC_000005.10:g.150117841G>T	TOPMed,gnomAD
rs745486517	p.Asp974Glu	missense variant	-	NC_000005.10:g.150117833A>C	ExAC,TOPMed,gnomAD
rs1163477683	p.Asp974Val	missense variant	-	NC_000005.10:g.150117834T>A	TOPMed,gnomAD
rs745486517	p.Asp974Glu	missense variant	-	NC_000005.10:g.150117833A>T	ExAC,TOPMed,gnomAD
rs1245387231	p.Glu975Gly	missense variant	-	NC_000005.10:g.150117831T>C	gnomAD
rs778666177	p.Arg979Lys	missense variant	-	NC_000005.10:g.150117819C>T	ExAC,gnomAD
rs879255377	p.Ser980Arg	missense variant	-	NC_000005.10:g.150117817T>G	-
RCV000699136	p.Ser980Asn	missense variant	Infantile myofibromatosis 1 (IMF1)	NC_000005.10:g.150117816C>T	ClinVar
RCV000239016	p.Ser980Arg	missense variant	-	NC_000005.10:g.150117817T>G	ClinVar
rs1439841248	p.His982Tyr	missense variant	-	NC_000005.10:g.150117811G>A	TOPMed
rs756715680	p.Pro983Leu	missense variant	-	NC_000005.10:g.150117807G>A	ExAC,gnomAD
rs1206090587	p.Ala984Val	missense variant	-	NC_000005.10:g.150117804G>A	gnomAD
rs753367645	p.Ile985Thr	missense variant	-	NC_000005.10:g.150117801A>G	ExAC,gnomAD
rs35731372	p.Arg987Gln	missense variant	-	NC_000005.10:g.150117795C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs35731372	p.Arg987Leu	missense variant	-	NC_000005.10:g.150117795C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs397509382	p.Arg987Trp	missense variant	-	NC_000005.10:g.150117796G>A	ExAC,gnomAD
rs397509382	p.Arg987Trp	missense variant	Basal ganglia calcification, idiopathic, 4 (IBGC4)	NC_000005.10:g.150117796G>A	UniProt,dbSNP
VAR_069321	p.Arg987Trp	missense variant	Basal ganglia calcification, idiopathic, 4 (IBGC4)	NC_000005.10:g.150117796G>A	UniProt
RCV000032789	p.Arg987Trp	missense variant	Basal ganglia calcification, idiopathic, 4 (IBGC4)	NC_000005.10:g.150117796G>A	ClinVar
rs1332695360	p.Gln989Lys	missense variant	-	NC_000005.10:g.150117790G>T	TOPMed
rs1361458551	p.Ala990Thr	missense variant	-	NC_000005.10:g.150117787C>T	gnomAD
rs752739088	p.Ala990Asp	missense variant	-	NC_000005.10:g.150117786G>T	ExAC,gnomAD
rs75748462	p.Arg991His	missense variant	-	NC_000005.10:g.150117783C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs75748462	p.Arg991Pro	missense variant	-	NC_000005.10:g.150117783C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs140261309	p.Arg991Cys	missense variant	-	NC_000005.10:g.150117784G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1162964047	p.Pro993Ser	missense variant	-	NC_000005.10:g.150117778G>A	gnomAD
rs1186041786	p.His996Arg	missense variant	-	NC_000005.10:g.150117768T>C	gnomAD
COSM3612466	p.Gly997Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150117766C>T	NCI-TCGA Cosmic
rs761069531	p.Gly997Val	missense variant	-	NC_000005.10:g.150117765C>A	ExAC,TOPMed,gnomAD
rs987244289	p.Arg999Gln	missense variant	-	NC_000005.10:g.150117759C>T	-
NCI-TCGA novel	p.Arg999Leu	missense variant	-	NC_000005.10:g.150117759C>A	NCI-TCGA
NCI-TCGA novel	p.Arg999Ter	stop gained	-	NC_000005.10:g.150117760G>A	NCI-TCGA
rs772291902	p.Ser1000Phe	missense variant	-	NC_000005.10:g.150117756G>A	ExAC,gnomAD
COSM3212050	p.Pro1001Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150117754G>A	NCI-TCGA Cosmic
rs778379116	p.Leu1002Arg	missense variant	-	NC_000005.10:g.150117750A>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp1003Asn	missense variant	-	NC_000005.10:g.150117748C>T	NCI-TCGA
rs770576414	p.Thr1004Ile	missense variant	-	NC_000005.10:g.150117744G>A	ExAC,TOPMed,gnomAD
rs1267599058	p.Ser1005Arg	missense variant	-	NC_000005.10:g.150117740G>T	gnomAD
rs749008500	p.Ser1006Ala	missense variant	-	NC_000005.10:g.150117739A>C	ExAC,gnomAD
rs1490825378	p.Ser1006Phe	missense variant	-	NC_000005.10:g.150117738G>A	gnomAD
rs749008500	p.Ser1006Thr	missense variant	-	NC_000005.10:g.150117739A>T	ExAC,gnomAD
rs1314883519	p.Val1007Asp	missense variant	-	NC_000005.10:g.150117735A>T	gnomAD
rs142762235	p.Val1007Ile	missense variant	-	NC_000005.10:g.150117736C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs948119310	p.Leu1008Pro	missense variant	-	NC_000005.10:g.150117732A>G	TOPMed,gnomAD
rs148183775	p.Tyr1009Cys	missense variant	-	NC_000005.10:g.150117729T>C	ESP,ExAC,TOPMed,gnomAD
rs754683673	p.Thr1010Ala	missense variant	-	NC_000005.10:g.150117727T>C	ExAC,gnomAD
rs757545741	p.Val1012Leu	missense variant	-	NC_000005.10:g.150117721C>A	ExAC,TOPMed,gnomAD
rs757545741	p.Val1012Met	missense variant	-	NC_000005.10:g.150117721C>T	ExAC,TOPMed,gnomAD
rs1453560666	p.Pro1014Thr	missense variant	-	NC_000005.10:g.150117715G>T	gnomAD
rs764243842	p.Asn1015Ser	missense variant	-	NC_000005.10:g.150117711T>C	ExAC,TOPMed,gnomAD
rs1161686582	p.Asn1015His	missense variant	-	NC_000005.10:g.150117712T>G	gnomAD
rs764243842	p.Asn1015Ile	missense variant	-	NC_000005.10:g.150117711T>A	ExAC,TOPMed,gnomAD
rs1161686582	p.Asn1015Asp	missense variant	-	NC_000005.10:g.150117712T>C	gnomAD
rs201061735	p.Glu1016Lys	missense variant	-	NC_000005.10:g.150117709C>T	1000Genomes
rs1196732733	p.Gly1017Val	missense variant	-	NC_000005.10:g.150117705C>A	gnomAD
rs1428098106	p.Gly1017Cys	missense variant	-	NC_000005.10:g.150117706C>A	gnomAD
rs1428098106	p.Gly1017Ser	missense variant	-	NC_000005.10:g.150117706C>T	gnomAD
rs1269577031	p.Asp1018Gly	missense variant	-	NC_000005.10:g.150117702T>C	gnomAD
NCI-TCGA novel	p.Asp1018Glu	missense variant	-	NC_000005.10:g.150117701G>T	NCI-TCGA
rs760849296	p.Asp1018Asn	missense variant	-	NC_000005.10:g.150117703C>T	ExAC,gnomAD
rs372555492	p.Asn1019Asp	missense variant	-	NC_000005.10:g.150117700T>C	ESP,ExAC,gnomAD
rs189849168	p.Asp1020Glu	missense variant	-	NC_000005.10:g.150117695G>C	1000Genomes,ExAC,gnomAD
rs909165088	p.Asp1020Asn	missense variant	-	NC_000005.10:g.150117697C>T	TOPMed,gnomAD
rs375922340	p.Pro1024Leu	missense variant	-	NC_000005.10:g.150117684G>A	ESP,TOPMed
rs1221806662	p.Leu1025Met	missense variant	-	NC_000005.10:g.150117682G>T	gnomAD
rs1283951256	p.Asp1027Asn	missense variant	-	NC_000005.10:g.150117676C>T	gnomAD
rs1382189753	p.Pro1028Ser	missense variant	-	NC_000005.10:g.150117673G>A	gnomAD
rs1383355454	p.Pro1030Arg	missense variant	-	NC_000005.10:g.150117666G>C	gnomAD
rs1383355454	p.Pro1030His	missense variant	-	NC_000005.10:g.150117666G>T	gnomAD
COSM3919348	p.Ala1033Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150117657G>A	NCI-TCGA Cosmic
rs748918501	p.Glu1035Lys	missense variant	-	NC_000005.10:g.150117652C>T	ExAC,gnomAD
rs772895326	p.Gly1036Ser	missense variant	-	NC_000005.10:g.150117649C>T	ExAC
rs1357545765	p.Leu1038Pro	missense variant	-	NC_000005.10:g.150117642A>G	TOPMed
rs1195710331	p.Glu1039Gly	missense variant	-	NC_000005.10:g.150117639T>C	TOPMed
rs149417689	p.Gly1040Val	missense variant	-	NC_000005.10:g.150117636C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000525984	p.Gly1040Val	missense variant	Infantile myofibromatosis 1 (IMF1)	NC_000005.10:g.150117636C>A	ClinVar
COSM3919346	p.Ser1041Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150117633G>A	NCI-TCGA Cosmic
rs374003999	p.Pro1042Ser	missense variant	-	NC_000005.10:g.150117631G>A	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Pro1042Leu	missense variant	-	NC_000005.10:g.150117630G>A	NCI-TCGA
NCI-TCGA novel	p.Ser1043AlaPheSerTerUnk	frameshift	-	NC_000005.10:g.150117629G>-	NCI-TCGA
rs1186958354	p.Leu1044Pro	missense variant	-	NC_000005.10:g.150117624A>G	gnomAD
rs754945283	p.Ala1045Val	missense variant	-	NC_000005.10:g.150117621G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala1045Asp	missense variant	-	NC_000005.10:g.150117621G>T	NCI-TCGA
rs369848216	p.Ala1045Thr	missense variant	-	NC_000005.10:g.150117622C>T	ESP,TOPMed
rs1262809438	p.Ser1046Asn	missense variant	-	NC_000005.10:g.150117618C>T	TOPMed,gnomAD
rs752920926	p.Ser1047Pro	missense variant	-	NC_000005.10:g.150115945A>G	ExAC,TOPMed,gnomAD
rs997837689	p.Asn1050Ser	missense variant	-	NC_000005.10:g.150115935T>C	TOPMed,gnomAD
rs1205902689	p.Glu1051Lys	missense variant	-	NC_000005.10:g.150115933C>T	gnomAD
rs752022391	p.Val1052Ile	missense variant	-	NC_000005.10:g.150115930C>T	ExAC,gnomAD
rs766897807	p.Asn1053Ser	missense variant	-	NC_000005.10:g.150115926T>C	ExAC,gnomAD
rs766897807	p.Asn1053Thr	missense variant	-	NC_000005.10:g.150115926T>G	ExAC,gnomAD
rs900848864	p.Thr1054Ser	missense variant	-	NC_000005.10:g.150115923G>C	TOPMed,gnomAD
COSM1435152	p.Ser1055Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150115921A>T	NCI-TCGA Cosmic
rs1337118827	p.Ile1058Val	missense variant	-	NC_000005.10:g.150115912T>C	gnomAD
rs888526507	p.Ser1059Phe	missense variant	-	NC_000005.10:g.150115908G>A	TOPMed,gnomAD
rs750794405	p.Cys1060Arg	missense variant	-	NC_000005.10:g.150115906A>G	ExAC
rs1304869438	p.Cys1060Phe	missense variant	-	NC_000005.10:g.150115905C>A	gnomAD
rs765584733	p.Asp1061His	missense variant	-	NC_000005.10:g.150115903C>G	ExAC,TOPMed,gnomAD
rs765584733	p.Asp1061Asn	missense variant	-	NC_000005.10:g.150115903C>T	ExAC,TOPMed,gnomAD
rs761510787	p.Ser1062Asn	missense variant	-	NC_000005.10:g.150115899C>T	ExAC,gnomAD
rs760292775	p.Ser1062Arg	missense variant	-	NC_000005.10:g.150115898G>C	ExAC,TOPMed,gnomAD
rs760292775	p.Ser1062Arg	missense variant	-	NC_000005.10:g.150115898G>T	ExAC,TOPMed,gnomAD
rs775520030	p.Pro1063Thr	missense variant	-	NC_000005.10:g.150115897G>T	ExAC,TOPMed,gnomAD
rs775520030	p.Pro1063Ser	missense variant	-	NC_000005.10:g.150115897G>A	ExAC,TOPMed,gnomAD
rs772147572	p.Pro1063His	missense variant	-	NC_000005.10:g.150115896G>T	ExAC,gnomAD
rs1267451911	p.Glu1065Asp	missense variant	-	NC_000005.10:g.150115889C>A	gnomAD
rs1480148607	p.Glu1065Lys	missense variant	-	NC_000005.10:g.150115891C>T	gnomAD
rs576668629	p.Glu1069Ter	stop gained	-	NC_000005.10:g.150115879C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs576668629	p.Glu1069Lys	missense variant	-	NC_000005.10:g.150115879C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1444854414	p.Glu1069Gly	missense variant	-	NC_000005.10:g.150115878T>C	TOPMed
COSM3827399	p.Glu1071Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150115873C>T	NCI-TCGA Cosmic
rs748372109	p.Glu1071Gln	missense variant	-	NC_000005.10:g.150115873C>G	ExAC,gnomAD
VAR_075395	p.Glu1071Val	Missense	Basal ganglia calcification, idiopathic, 4 (IBGC4) [MIM:615007]	-	UniProt
rs781302526	p.Glu1073Gly	missense variant	-	NC_000005.10:g.150115866T>C	ExAC,TOPMed,gnomAD
rs755005245	p.Pro1074Leu	missense variant	-	NC_000005.10:g.150115863G>A	ExAC,gnomAD
rs1002145058	p.Gln1075His	missense variant	-	NC_000005.10:g.150115859C>G	TOPMed,gnomAD
rs1288552222	p.Gln1075Pro	missense variant	-	NC_000005.10:g.150115860T>G	gnomAD
rs376730887	p.Leu1076Phe	missense variant	-	NC_000005.10:g.150115858G>A	ESP,ExAC,TOPMed,gnomAD
rs376730887	p.Leu1076Ile	missense variant	-	NC_000005.10:g.150115858G>T	ESP,ExAC,TOPMed,gnomAD
rs758904285	p.Val1080Met	missense variant	-	NC_000005.10:g.150115846C>T	ExAC,TOPMed,gnomAD
rs1554107047	p.Glu1081Lys	missense variant	-	NC_000005.10:g.150115843C>T	-
RCV000626825	p.Glu1081Lys	missense variant	-	NC_000005.10:g.150115843C>T	ClinVar
rs765611204	p.Pro1082Leu	missense variant	-	NC_000005.10:g.150115839G>A	ExAC,TOPMed,gnomAD
rs1160163328	p.Pro1084Leu	missense variant	-	NC_000005.10:g.150115833G>A	gnomAD
rs753485639	p.Pro1084Ala	missense variant	-	NC_000005.10:g.150115834G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu1087Gln	missense variant	-	NC_000005.10:g.150115825C>G	NCI-TCGA
rs1444001836	p.Glu1087Lys	missense variant	-	NC_000005.10:g.150115825C>T	TOPMed
rs1192950716	p.Gln1088Ter	stop gained	-	NC_000005.10:g.150115822G>A	gnomAD
rs1478654642	p.Gln1088Arg	missense variant	-	NC_000005.10:g.150115821T>C	gnomAD
rs760205038	p.Pro1090Leu	missense variant	-	NC_000005.10:g.150115815G>A	ExAC,TOPMed,gnomAD
rs146614144	p.Ser1092Ter	stop gained	-	NC_000005.10:g.150115809G>T	ESP,ExAC,TOPMed,gnomAD
rs146614144	p.Ser1092Leu	missense variant	-	NC_000005.10:g.150115809G>A	ESP,ExAC,TOPMed,gnomAD
rs1393883722	p.Gly1093Arg	missense variant	-	NC_000005.10:g.150115807C>T	TOPMed
rs367604639	p.Cys1094Ter	stop gained	-	NC_000005.10:g.150115802G>T	ESP,ExAC,TOPMed,gnomAD
rs571909632	p.Cys1094Tyr	missense variant	-	NC_000005.10:g.150115803C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1405991603	p.Pro1095Ser	missense variant	-	NC_000005.10:g.150115801G>A	TOPMed
rs114435947	p.Ala1096Val	missense variant	-	NC_000005.10:g.150115797G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs758520535	p.Pro1097Ser	missense variant	-	NC_000005.10:g.150115795G>A	ExAC
rs151236133	p.Arg1098Gln	missense variant	-	NC_000005.10:g.150115791C>T	ESP,ExAC,TOPMed,gnomAD
rs151236133	p.Arg1098Pro	missense variant	-	NC_000005.10:g.150115791C>G	ESP,ExAC,TOPMed,gnomAD
rs267600485	p.Arg1098Trp	missense variant	-	NC_000005.10:g.150115792G>A	ExAC,gnomAD
rs373655593	p.Ala1099Val	missense variant	-	NC_000005.10:g.150115788G>A	ESP,ExAC,TOPMed,gnomAD
rs1200297003	p.Asp1103Val	missense variant	-	NC_000005.10:g.150115776T>A	TOPMed

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001430	Adenoma	group	BEFREE
C0001815	Primary Myelofibrosis	disease	BEFREE
C0002395	Alzheimer's Disease	disease	BEFREE
C0002871	Anemia	disease	BEFREE
C0004096	Asthma	disease	BEFREE
C0004158	Athetosis	phenotype	HPO
C0004238	Atrial Fibrillation	disease	BEFREE
C0004782	Basal Ganglia Diseases	group	CTD_human
C0005398	Cholestasis, Extrahepatic	disease	RGD
C0005684	Malignant neoplasm of urinary bladder	disease	BEFREE
C0005695	Bladder Neoplasm	group	BEFREE
C0005699	Blast Phase	disease	BEFREE
C0005745	Blepharoptosis	disease	HPO
C0005937	Bone Cysts	phenotype	HPO
C0006118	Brain Neoplasms	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0006287	Bronchopulmonary Dysplasia	disease	BEFREE
C0006663	Calcinosis	phenotype	CTD_human
C0007095	Carcinoid Tumor	group	LHGDN
C0007102	Malignant tumor of colon	disease	BEFREE
C0007103	Malignant neoplasm of endometrium	disease	BEFREE
C0007113	Rectal Carcinoma	disease	BEFREE
C0007114	Malignant neoplasm of skin	disease	HPO
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007134	Renal Cell Carcinoma	disease	BEFREE
C0007138	Carcinoma, Transitional Cell	disease	BEFREE
C0008479	Chondrosarcoma	disease	BEFREE
C0008487	Chordoma	disease	BEFREE
C0008489	Chorea	phenotype	HPO
C0008497	Choriocarcinoma	disease	BEFREE
C0008626	Congenital chromosomal disease	group	BEFREE
C0009324	Ulcerative Colitis	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0009404	Colorectal Neoplasms	group	LHGDN
C0010038	Corneal Opacity	phenotype	HPO
C0011581	Depressive disorder	disease	HPO
C0011644	Scleroderma	disease	BEFREE
C0013362	Dysarthria	disease	HPO
C0013421	Dystonia	phenotype	HPO
C0014457	Eosinophilia	disease	BEFREE;HPO
C0014544	Epilepsy	disease	BEFREE;HPO
C0014859	Esophageal Neoplasms	group	BEFREE
C0015300	Exophthalmos	disease	HPO
C0015371	Extrapyramidal Disorders	group	CTD_human
C0015934	Fetal Growth Retardation	phenotype	HPO
C0016045	fibroma	disease	HPO
C0016049	Fibromatosis, Gingival	phenotype	HPO
C0016057	Fibrosarcoma	disease	BEFREE
C0016059	Fibrosis	phenotype	LHGDN
C0017636	Glioblastoma	disease	BEFREE
C0017638	Glioma	disease	BEFREE;LHGDN
C0017658	Glomerulonephritis	disease	BEFREE
C0018784	Sensorineural Hearing Loss (disorder)	disease	HPO
C0019209	Hepatomegaly	phenotype	HPO
C0020490	Hyperopia	disease	HPO
C0020538	Hypertensive disease	group	BEFREE;RGD
C0021296	Infant, Small for Gestational Age	phenotype	HPO
C0021368	Inflammation	phenotype	LHGDN
C0022665	Kidney Neoplasm	disease	BEFREE
C0023418	leukemia	disease	BEFREE
C0023449	Acute lymphocytic leukemia	disease	BEFREE
C0023461	Leukemia, Mast-Cell	disease	BEFREE
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE
C0023473	Myeloid Leukemia, Chronic	disease	BEFREE
C0023480	Leukemia, Myelomonocytic, Chronic	disease	BEFREE;ORPHANET
C0023601	Leydig Cell Tumor	disease	BEFREE
C0023893	Liver Cirrhosis, Experimental	disease	CTD_human
C0024117	Chronic Obstructive Airway Disease	disease	BEFREE
C0024121	Lung Neoplasms	group	HPO
C0024232	Lymphatic Metastasis	disease	BEFREE
C0024299	Lymphoma	group	BEFREE
C0025149	Medulloblastoma	disease	BEFREE
C0025202	melanoma	disease	BEFREE
C0025286	Meningioma	disease	BEFREE
C0025990	Micrognathism	disease	HPO
C0026499	Monosomy	group	BEFREE
C0026650	Movement Disorders	group	BEFREE
C0026837	Muscle Rigidity	phenotype	HPO
C0026987	Myelofibrosis	disease	BEFREE
C0027022	Myeloproliferative disease	group	BEFREE;HPO;LHGDN
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027651	Neoplasms	group	BEFREE
C0027656	Neoplasms, Connective Tissue	group	BEFREE
C0027708	Nephroblastoma	disease	BEFREE
C0027765	nervous system disorder	group	BEFREE
C0027809	Neurilemmoma	disease	BEFREE;LHGDN
C0027819	Neuroblastoma	group	BEFREE
C0028326	Noonan Syndrome	disease	LHGDN
C0029453	Osteopenia	disease	HPO
C0029463	Osteosarcoma	disease	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0032463	Polycythemia Vera	disease	BEFREE
C0033578	Prostatic Neoplasms	group	BEFREE;LHGDN
C0033975	Psychotic Disorders	group	BEFREE;HPO
C0034885	Rectal Neoplasms	group	LHGDN
C0035412	Rhabdomyosarcoma	disease	BEFREE
C0036337	Schizoaffective Disorder	disease	BEFREE;PSYGENET
C0036341	Schizophrenia	disease	BEFREE;PSYGENET
C0036421	Systemic Scleroderma	disease	BEFREE
C0036572	Seizures	phenotype	BEFREE;HPO
C0037286	Skin Neoplasms	group	HPO
C0038220	Status Epilepticus	disease	BEFREE
C0039101	synovial sarcoma	disease	LHGDN
C0039590	Testicular Neoplasms	group	BEFREE
C0040034	Thrombocytopenia	phenotype	HPO
C0040822	Tremor	phenotype	HPO
C0041341	Tuberous Sclerosis	disease	BEFREE
C0041956	Ureteral obstruction	phenotype	BEFREE
C0042024	Urinary Incontinence	phenotype	HPO
C0042900	Vitiligo	disease	BEFREE
C0079218	Fibromatosis, Aggressive	disease	BEFREE
C0079924	Oligohydramnios	phenotype	RGD
C0085786	Hamman-Rich syndrome	disease	BEFREE
C0149782	Squamous cell carcinoma of lung	disease	BEFREE
C0149939	Obstructive nephropathy	disease	BEFREE
C0149940	Sciatic Neuropathy	disease	RGD
C0151650	Renal fibrosis	disease	BEFREE
C0151811	Subcutaneous nodule	phenotype	HPO
C0151889	Hyperreflexia	phenotype	HPO
C0152018	Esophageal carcinoma	disease	BEFREE
C0153676	Secondary malignant neoplasm of lung	disease	BEFREE
C0157733	Abnormality of the hair	group	HPO
C0178874	Tumor Progression	phenotype	BEFREE
C0200637	Monocyte count procedure	phenotype	GWASCAT
C0205699	Carcinomatosis	phenotype	BEFREE
C0205851	Germ cell tumor	group	BEFREE
C0206141	Idiopathic Hypereosinophilic Syndrome	disease	BEFREE
C0206180	Ki-1+ Anaplastic Large Cell Lymphoma	disease	BEFREE
C0206620	Lymphangioma, Cystic	disease	BEFREE
C0206630	Endometrial Stromal Sarcoma	disease	LHGDN
C0206647	Dermatofibrosarcoma	disease	BEFREE;LHGDN
C0206648	Myofibromatosis	disease	BEFREE
C0206651	Clear Cell Sarcoma of Soft Tissue	disease	BEFREE
C0206657	Alveolar Soft Part Sarcoma	disease	BEFREE
C0206698	Cholangiocarcinoma	disease	BEFREE
C0220668	Congenital contractural arachnodactyly	disease	BEFREE
C0221357	Brachydactyly	disease	HPO
C0233565	Bradykinesia	phenotype	HPO
C0233794	Memory impairment	phenotype	HPO
C0234979	Dysdiadochokinesis	phenotype	HPO
C0234985	Mental deterioration	phenotype	HPO
C0235942	Abnormality of the skull	phenotype	HPO
C0235974	Pancreatic carcinoma	disease	BEFREE
C0238198	Gastrointestinal Stromal Tumors	group	BEFREE
C0238461	Anaplastic thyroid carcinoma	disease	BEFREE
C0238462	Medullary carcinoma of thyroid	disease	BEFREE
C0238463	Papillary thyroid carcinoma	disease	BEFREE
C0239174	Late tooth eruption	phenotype	HPO
C0240310	Hypoplasia of the maxilla	disease	HPO
C0241074	Hyperextensible skin	phenotype	HPO
C0241181	Fragile skin	phenotype	HPO
C0241961	Angiomyolipoma of kidney	disease	BEFREE
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0242422	Parkinsonian Disorders	group	HPO
C0262361	Growth abnormality	phenotype	HPO
C0263628	Tumoral calcinosis	disease	CTD_human
C0263662	Disseminated eosinophilic collagen disease	disease	BEFREE
C0263746	Osteoarthritis of the hand	disease	BEFREE
C0268238	Triglyceride storage disease with ichthyosis	disease	BEFREE
C0270685	Cerebral calcification	phenotype	HPO
C0277828	Late fontanel closure	phenotype	HPO
C0278701	Gastric Adenocarcinoma	disease	UNIPROT
C0279000	Liver and Intrahepatic Biliary Tract Carcinoma	disease	BEFREE
C0279626	Squamous cell carcinoma of esophagus	disease	BEFREE
C0279628	Adenocarcinoma Of Esophagus	disease	BEFREE
C0279702	Conventional (Clear Cell) Renal Cell Carcinoma	disease	BEFREE
C0280100	Solid Neoplasm	phenotype	BEFREE
C0280785	Diffuse Astrocytoma	disease	BEFREE
C0333463	Senile Plaques	phenotype	BEFREE
C0334279	Adenocarcinoma, intestinal type	disease	BEFREE
C0334280	Carcinoma, diffuse type	phenotype	BEFREE
C0334409	Leydig cell tumor, benign	disease	BEFREE
C0334579	Anaplastic astrocytoma	disease	BEFREE
C0338656	Impaired cognition	disease	BEFREE
C0340548	Pulmonary capillary hemangiomatosis	disease	BEFREE
C0345904	Malignant neoplasm of liver	disease	BEFREE
C0346421	Chronic eosinophilic leukemia	disease	BEFREE
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0349204	Nonorganic psychosis	disease	BEFREE
C0349566	Squamous cell carcinoma of tongue	disease	BEFREE
C0349639	Juvenile Myelomonocytic Leukemia	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0376545	Hematologic Neoplasms	group	BEFREE
C0392386	Decreased platelet count	phenotype	HPO
C0392784	Dermatofibrosarcoma Protuberans	disease	BEFREE
C0393590	Fahr's syndrome (disorder)	disease	BEFREE;CTD_human;MGD;ORPHANET
C0399440	Hereditary gingival fibromatosis	disease	HPO
C0423110	Downward slant of palpebral fissure	phenotype	HPO
C0423757	Thin skin	phenotype	HPO
C0424448	Mask-like facies	phenotype	HPO
C0424688	Small head	phenotype	HPO
C0426422	Narrow nose	phenotype	HPO
C0432284	Infantile myofibromatosis	disease	BEFREE;CLINVAR;CTD_human;MGD;ORPHANET;UNIPROT
C0432412	Chromosome 8, trisomy	disease	BEFREE
C0476089	Endometrial Carcinoma	disease	BEFREE
C0494165	Secondary malignant neoplasm of liver	disease	BEFREE
C0521174	Microcalcification	phenotype	CTD_human
C0521719	Clouding of corneal stroma	disease	HPO
C0541764	Delayed bone age	phenotype	HPO
C0542476	Forgetful	phenotype	HPO
C0546837	Malignant neoplasm of esophagus	disease	BEFREE
C0553580	Ewings sarcoma	disease	BEFREE
C0553730	Calcium pyrophosphate deposition disease	disease	HPO
C0555198	Malignant Glioma	disease	BEFREE
C0575081	Gait abnormality	group	HPO
C0576225	Long foot	phenotype	HPO
C0578038	Thin lips	phenotype	HPO
C0585442	Osteosarcoma of bone	disease	BEFREE
C0586553	Raised TSH level	phenotype	HPO
C0596263	Carcinogenesis	phenotype	BEFREE
C0598766	Leukemogenesis	disease	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0677932	Progressive Neoplastic Disease	phenotype	BEFREE
C0677936	Refractory cancer	phenotype	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE;HPO
C0686619	Secondary malignant neoplasm of lymph node	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0699885	Carcinoma of bladder	disease	BEFREE
C0699893	Skin carcinoma	disease	HPO
C0700095	Central neuroblastoma	disease	BEFREE
C0730278	Severe nonproliferative diabetic retinopathy	disease	MGD
C0740392	Infarction, Middle Cerebral Artery	disease	RGD
C0745091	Hypereosinophilia	disease	BEFREE
C0746926	Multiple, subcutaneous nodules	disease	HPO
C0747078	Generalized osteopenia	disease	HPO
C0749379	Thoracolumbar scoliosis	disease	HPO
C0750880	Monocyte count result	phenotype	GWASCAT
C0750951	Lenticulostriate Disorders	disease	CTD_human
C0751295	Memory Loss	phenotype	HPO
C0751690	Malignant Peripheral Nerve Sheath Tumor	disease	BEFREE
C0795878	Monosomy 22	disease	BEFREE
C0812413	Malignant Pleural Mesothelioma	disease	BEFREE
C0836924	Thrombocytosis	disease	BEFREE
C0854107	Subcutaneous hemorrhage	disease	HPO
C0860564	Retinoic acid syndrome	disease	BEFREE
C0870082	Hyperkeratosis	group	HPO
C0917990	Acro-Osteolysis	disease	HPO
C0919267	ovarian neoplasm	disease	BEFREE;LHGDN
C0950123	Genetic Diseases, Inborn	group	CLINVAR
C1096063	Drug Resistant Epilepsy	disease	BEFREE
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1261473	Sarcoma	group	BEFREE;LHGDN
C1266121	Myofibroma (morphologic abnormality)	disease	BEFREE
C1280433	Lipoatrophy	disease	HPO
C1292758	Precursor T-cell lymphoblastic lymphoma	disease	BEFREE
C1292772	Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative	disease	BEFREE
C1292778	Chronic myeloproliferative disorder	disease	BEFREE;MGD
C1301355	Myelodysplastic-Myeloproliferative Diseases	group	BEFREE
C1302808	Myopericytoma	disease	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1306759	Eosinophilic disorder	group	BEFREE
C1333046	Myeloproliferative Neoplasm, Unclassifiable	phenotype	ORPHANET
C1386048	Intrauterine retardation	phenotype	HPO
C1389280	Basal ganglia calcification	phenotype	HPO
C1527249	Colorectal Cancer	disease	BEFREE
C1540912	Hypereosinophilic syndrome	disease	BEFREE
C1621958	Glioblastoma Multiforme	disease	BEFREE
C1658953	tumor vasculature	phenotype	BEFREE
C1800706	Idiopathic Pulmonary Fibrosis	disease	BEFREE
C1833144	Slender long bone	phenotype	HPO
C1837249	Malformations of Cortical Development, Group II	disease	HPO
C1837260	Prominent forehead	phenotype	HPO
C1837760	Prominent eyes	phenotype	HPO
C1837770	Sparse hair	phenotype	HPO
C1839764	Broad flat nasal bridge	phenotype	HPO
C1842060	Prominent supraorbital ridges	phenotype	HPO
C1843921	Postural instability	phenotype	HPO
C1844505	Pointed chin	phenotype	HPO
C1847319	PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA	disease	BEFREE
C1847835	VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	disease	BEFREE
C1848490	Protruding eyes	phenotype	HPO
C1849265	Overgrowth	phenotype	HPO
C1849367	Nasal bridge wide	phenotype	HPO
C1851585	MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA	disease	CTD_human;HPO
C1851731	Generalized overgrowth	phenotype	HPO
C1852502	CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	disease	BEFREE
C1853242	Midface retrusion	phenotype	HPO
C1853926	NONAKA MYOPATHY	disease	BEFREE
C1854113	Prominent nasal bridge	phenotype	HPO
C1854489	Limb dysmetria	phenotype	HPO
C1854838	Progressive neurologic deterioration	phenotype	HPO
C1856231	Thin calvarium	phenotype	HPO
C1857130	Hypoplastic mandible condyle	phenotype	HPO
C1859273	Dense calcifications in the cerebellar dentate nucleus	phenotype	HPO
C1860844	Thin, sparse hair	phenotype	HPO
C1862425	Prominent globes	phenotype	HPO
C1865017	Thin upper lip vermilion	phenotype	HPO
C1866182	Penttinen-Aula syndrome	disease	CTD_human;ORPHANET;UNIPROT
C1867446	Bulging forehead	phenotype	HPO
C1883486	Uterine Corpus Cancer	disease	BEFREE
C1961099	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	disease	BEFREE
C2145472	Urothelial Carcinoma	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE
C2673410	Small midface	phenotype	HPO
C2677869	Abnormality of the hair shaft	phenotype	HPO
C2827469	Coronary Microvascular Disease	disease	BEFREE
C2939461	Myeloid neoplasm	disease	BEFREE
C2986703	Overgrowth Syndrome	disease	BEFREE
C3150281	Fetal overgrowth	phenotype	HPO
C3165106	Infiltrating duct carcinoma of female breast	disease	UNIPROT
C3278923	Dilated ventricles (finding)	phenotype	HPO
C3463824	MYELODYSPLASTIC SYNDROME	group	BEFREE
C3472621	Myeloid neoplasm with beta-type platelet-derived growth factor receptor gene rearrangement	disease	ORPHANET
C3539781	Progressive cGVHD	disease	BEFREE
C3539878	Triple Negative Breast Neoplasms	disease	BEFREE
C3554321	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4	disease	CLINVAR;CTD_human;UNIPROT
C3693482	Giant Cell Fibroblastoma	disease	BEFREE
C3711560	Pdgfrb-Associated Chronic Eosinophilic Leukemia	disease	BEFREE
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C3809084	MYOFIBROMATOSIS, INFANTILE, 2	disease	MGD
C3853548	Pdgfra-Associated Chronic Eosinophilic Leukemia	disease	BEFREE
C4020858	Choreatic disease	disease	HPO
C4020871	Dystonic disease	disease	HPO
C4021745	Abnormality of the musculature	phenotype	HPO
C4021797	Abnormality of the thorax	phenotype	HPO
C4024589	Aplasia/Hypoplasia of the mandible	phenotype	HPO
C4025596	Abnormality of connective tissue	phenotype	HPO
C4025703	Calcification of the small brain vessels	phenotype	HPO
C4025814	Abnormality of the metaphysis	phenotype	HPO
C4054188	Ph-Like Acute Lymphoblastic Leukemia	disease	BEFREE
C4082243	Maxillary retrognathia	phenotype	HPO
C4225270	KOSAKI OVERGROWTH SYNDROME	disease	CLINVAR;CTD_human;ORPHANET;UNIPROT
C4230640	Convex nasal bridge	phenotype	HPO
C4280320	Hypotrophic midface	phenotype	HPO
C4280321	Decreased projection of midface	phenotype	HPO
C4280379	Thin skull bone	phenotype	HPO
C4280577	Uncoordinated limb movement	phenotype	HPO
C4280636	Hypertrophy of supraorbital ridge	phenotype	HPO
C4280637	Hypertrophy of supraorbital margins	phenotype	HPO
C4280638	Hyperplasia of supraorbital ridge	phenotype	HPO
C4280639	Hyperplasia of supraorbital margins	phenotype	HPO
C4280640	Retrusion of upper jaw bones	phenotype	HPO
C4280641	Hypotrophic maxilla	phenotype	HPO
C4280642	Deficiency of upper jaw bones	phenotype	HPO
C4280643	Decreased projection of maxilla	phenotype	HPO
C4280677	Idiopathic gingival hyperplasia	phenotype	HPO
C4476523	Decreased projection of lower jaw	phenotype	HPO
C4476524	Decreased projection of mandible	phenotype	HPO
C4476525	Retrusion of lower jaw	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004713	protein tyrosine kinase activity	IDA
GO:0004714	transmembrane receptor protein tyrosine kinase activity	IBA
GO:0004992	platelet activating factor receptor activity	TAS
GO:0005017	platelet-derived growth factor-activated receptor activity	IBA
GO:0005019	platelet-derived growth factor beta-receptor activity	IDA
GO:0005019	platelet-derived growth factor beta-receptor activity	IBA
GO:0005019	platelet-derived growth factor beta-receptor activity	IMP
GO:0005102	signaling receptor binding	IPI
GO:0005161	platelet-derived growth factor receptor binding	IPI
GO:0005515	protein binding	IPI
GO:0005524	ATP binding	IEA
GO:0019838	growth factor binding	IBA
GO:0019899	enzyme binding	IPI
GO:0019901	protein kinase binding	IPI
GO:0038085	vascular endothelial growth factor binding	IPI
GO:0043548	phosphatidylinositol 3-kinase binding	IEA
GO:0048407	platelet-derived growth factor binding	IBA
GO:0048407	platelet-derived growth factor binding	IPI
GO:0048407	platelet-derived growth factor binding	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000165	MAPK cascade	TAS
GO:0001701	in utero embryonic development	IEA
GO:0001894	tissue homeostasis	IEA
GO:0002244	hematopoietic progenitor cell differentiation	IBA
GO:0006024	glycosaminoglycan biosynthetic process	IEA
GO:0007165	signal transduction	IDA
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	IBA
GO:0007186	G protein-coupled receptor signaling pathway	IEA
GO:0007275	multicellular organism development	IBA
GO:0007568	aging	IEA
GO:0008284	positive regulation of cell population proliferation	IMP
GO:0008584	male gonad development	IEA
GO:0010863	positive regulation of phospholipase C activity	IDA
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	ISS
GO:0014911	positive regulation of smooth muscle cell migration	ISS
GO:0014911	positive regulation of smooth muscle cell migration	IMP
GO:0014911	positive regulation of smooth muscle cell migration	IBA
GO:0016477	cell migration	IMP
GO:0018108	peptidyl-tyrosine phosphorylation	IDA
GO:0030325	adrenal gland development	IEA
GO:0030335	positive regulation of cell migration	IDA
GO:0032355	response to estradiol	IEA
GO:0032516	positive regulation of phosphoprotein phosphatase activity	IDA
GO:0032526	response to retinoic acid	IEA
GO:0032956	regulation of actin cytoskeleton organization	ISS
GO:0032967	positive regulation of collagen biosynthetic process	IEA
GO:0033674	positive regulation of kinase activity	IBA
GO:0034405	response to fluid shear stress	IEA
GO:0035025	positive regulation of Rho protein signal transduction	IEA
GO:0035441	cell migration involved in vasculogenesis	ISS
GO:0035789	metanephric mesenchymal cell migration	IEA
GO:0035791	platelet-derived growth factor receptor-beta signaling pathway	IMP
GO:0035793	positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway	ISS
GO:0035909	aorta morphogenesis	ISS
GO:0036120	cellular response to platelet-derived growth factor stimulus	IEA
GO:0038091	positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway	IDA
GO:0042060	wound healing	IEA
GO:0043065	positive regulation of apoptotic process	IEA
GO:0043066	negative regulation of apoptotic process	IEA
GO:0043406	positive regulation of MAP kinase activity	ISS
GO:0043552	positive regulation of phosphatidylinositol 3-kinase activity	IDA
GO:0043627	response to estrogen	IEA
GO:0045840	positive regulation of mitotic nuclear division	ISS
GO:0046488	phosphatidylinositol metabolic process	IMP
GO:0046777	protein autophosphorylation	IDA
GO:0048008	platelet-derived growth factor receptor signaling pathway	IDA
GO:0048015	phosphatidylinositol-mediated signaling	IMP
GO:0048146	positive regulation of fibroblast proliferation	IEA
GO:0048568	embryonic organ development	IEA
GO:0048661	positive regulation of smooth muscle cell proliferation	ISS
GO:0048661	positive regulation of smooth muscle cell proliferation	IMP
GO:0048705	skeletal system morphogenesis	IEA
GO:0048745	smooth muscle tissue development	IEA
GO:0048839	inner ear development	IEA
GO:0050730	regulation of peptidyl-tyrosine phosphorylation	IEA
GO:0050921	positive regulation of chemotaxis	ISS
GO:0051897	positive regulation of protein kinase B signaling	TAS
GO:0055003	cardiac myofibril assembly	ISS
GO:0055093	response to hyperoxia	IEA
GO:0060326	cell chemotaxis	IDA
GO:0060437	lung growth	IEA
GO:0060981	cell migration involved in coronary angiogenesis	ISS
GO:0061298	retina vasculature development in camera-type eye	ISS
GO:0070301	cellular response to hydrogen peroxide	IEA
GO:0070374	positive regulation of ERK1 and ERK2 cascade	ISS
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IMP
GO:0071670	smooth muscle cell chemotaxis	ISS
GO:0072075	metanephric mesenchyme development	IEA
GO:0072262	metanephric glomerular mesangial cell proliferation involved in metanephros development	ISS
GO:0072277	metanephric glomerular capillary formation	ISS
GO:0072278	metanephric comma-shaped body morphogenesis	IEA
GO:0072284	metanephric S-shaped body morphogenesis	IEA
GO:0090280	positive regulation of calcium ion import	ISS
GO:0106096	response to ceramide	IEA
GO:2000379	positive regulation of reactive oxygen species metabolic process	ISS
GO:2000491	positive regulation of hepatic stellate cell activation	IEA
GO:2000573	positive regulation of DNA biosynthetic process	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	ISS
GO:0005737	cytoplasm	ISS
GO:0005794	Golgi apparatus	IDA
GO:0005886	plasma membrane	TAS
GO:0005887	integral component of plasma membrane	IBA
GO:0005925	focal adhesion	HDA
GO:0009986	cell surface	IEA
GO:0016020	membrane	IDA
GO:0016020	membrane	HDA
GO:0016324	apical plasma membrane	ISS
GO:0031226	intrinsic component of plasma membrane	IDA
GO:0031410	cytoplasmic vesicle	IEA
GO:0043202	lysosomal lumen	IEA
GO:0043231	intracellular membrane-bounded organelle	IDA
GO:0043235	receptor complex	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1257604	PIP3 activates AKT signaling	TAS
R-HSA-1280215	Cytokine Signaling in Immune system	TAS
R-HSA-162582	Signal Transduction	TAS
R-HSA-1643685	Disease	TAS
R-HSA-168256	Immune System	TAS
R-HSA-186763	Downstream signal transduction	TAS
R-HSA-186797	Signaling by PDGF	TAS
R-HSA-199418	Negative regulation of the PI3K/AKT network	TAS
R-HSA-2219528	PI3K/AKT Signaling in Cancer	TAS
R-HSA-2219530	Constitutive Signaling by Aberrant PI3K in Cancer	TAS
R-HSA-5663202	Diseases of signal transduction	TAS
R-HSA-5673001	RAF/MAP kinase cascade	TAS
R-HSA-5683057	MAPK family signaling cascades	TAS
R-HSA-5684996	MAPK1/MAPK3 signaling	TAS
R-HSA-6811558	PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	TAS
R-HSA-9006925	Intracellular signaling by second messengers	TAS
R-HSA-9006934	Signaling by Receptor Tyrosine Kinases	TAS
R-HSA-9607240	FLT3 Signaling	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015056	1-Methyl-3-isobutylxanthine	[Dexamethasone co-treated with Rosiglitazone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS1 protein] results in decreased expression of PDGFRB mRNA	16054899
D015056	1-Methyl-3-isobutylxanthine	EGF protein inhibits the reaction [[Dexamethasone co-treated with Rosiglitazone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS1 protein] results in decreased expression of PDGFRB mRNA]	16054899
D015056	1-Methyl-3-isobutylxanthine	Tetrachlorodibenzodioxin inhibits the reaction [[Dexamethasone co-treated with Rosiglitazone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS1 protein] results in decreased expression of PDGFRB mRNA]	16054899
D015058	1-Naphthylisothiocyanate	[1-Naphthylisothiocyanate co-treated with Cholic Acids] affects the expression of PDGFRB mRNA	27344345
C032668	1-nitropyrene	1-nitropyrene results in decreased expression of PDGFRB mRNA	19041380
C054919	2,2-(2-chlorophenyl-4'-chlorophenyl)-1,1-dichloroethene	[Dichlorodiphenyldichloroethane co-treated with Dichlorodiphenyl Dichloroethylene co-treated with 2,2-(2-chlorophenyl-4'-chlorophenyl)-1,1-dichloroethene co-treated with Aldrin co-treated with Dieldrin] results in increased expression of PDGFRB mRNA	19422813
C093973	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one results in decreased expression of PDGFRB mRNA	18332871
C093973	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one results in decreased expression of PDGFRB protein	18332871
C013186	2,3-pentanedione	2,3-pentanedione results in increased expression of PDGFRB mRNA	25710175
C577942	2-methoxy-N-(3-methyl-2-oxo-1,2,3,4-tetrahydroquinazolin-6-yl)benzenesulfonamide	2-methoxy-N-(3-methyl-2-oxo-1,2,3,4-tetrahydroquinazolin-6-yl)benzenesulfonamide inhibits the reaction [TGFB1 protein results in increased expression of PDGFRB mRNA]	26644586
C577942	2-methoxy-N-(3-methyl-2-oxo-1,2,3,4-tetrahydroquinazolin-6-yl)benzenesulfonamide	2-methoxy-N-(3-methyl-2-oxo-1,2,3,4-tetrahydroquinazolin-6-yl)benzenesulfonamide results in decreased expression of PDGFRB mRNA	26644586
C117011	3-(4-dimethylamino-benzylidenyl)-2-indolinone	3-(4-dimethylamino-benzylidenyl)-2-indolinone results in decreased activity of PDGFRB protein	15728459
C027576	4-hydroxy-2-nonenal	4-hydroxy-2-nonenal binds to PDGFRB protein	16527993
C027576	4-hydroxy-2-nonenal	4-hydroxy-2-nonenal inhibits the reaction [PDGFB protein results in increased phosphorylation of PDGFRB protein]	16527993
C027576	4-hydroxy-2-nonenal	dinitrophenylhydrazine inhibits the reaction [4-hydroxy-2-nonenal binds to PDGFRB protein]	16527993
C027576	4-hydroxy-2-nonenal	Hydralazine inhibits the reaction [4-hydroxy-2-nonenal binds to PDGFRB protein]	16527993
C027576	4-hydroxy-2-nonenal	4-hydroxy-2-nonenal affects the activity of PDGFRB protein	17263919
C499823	5S,12R,18R-trihydroxy-6Z,8E,10E,14Z,16E-eicosapentaenoic acid	5S,12R,18R-trihydroxy-6Z,8E,10E,14Z,16E-eicosapentaenoic acid results in decreased phosphorylation of PDGFRB protein	20709806
C499823	5S,12R,18R-trihydroxy-6Z,8E,10E,14Z,16E-eicosapentaenoic acid	PDGFB protein promotes the reaction [5S,12R,18R-trihydroxy-6Z,8E,10E,14Z,16E-eicosapentaenoic acid results in decreased phosphorylation of PDGFRB protein]	20709806
C407689	6,7-dimethoxy-2-phenylquinoxaline	6,7-dimethoxy-2-phenylquinoxaline inhibits the reaction [Nicotine results in increased expression of PDGFRB protein]	16149045
C407689	6,7-dimethoxy-2-phenylquinoxaline	6,7-dimethoxy-2-phenylquinoxaline inhibits the reaction [PDGFB protein results in increased phosphorylation of PDGFRB protein]	25896968
C106250	6,7-dimethoxy-3-phenylquinoxaline	6,7-dimethoxy-3-phenylquinoxaline inhibits the reaction [Leukotriene D4 results in increased phosphorylation of and results in increased activity of PDGFRB protein]	12223454
C518849	7-(3-(cyclohexylmethyl)ureido)-3-(1-methyl-1H-pyrrolo(2,3-b)pyridin-3-yl)quinoxalin-2(1H)-one	7-(3-(cyclohexylmethyl)ureido)-3-(1-methyl-1H-pyrrolo(2,3-b)pyridin-3-yl)quinoxalin-2(1H)-one metabolite inhibits the reaction [PDGFB protein results in increased activity of PDGFRB protein]	17268099
C518849	7-(3-(cyclohexylmethyl)ureido)-3-(1-methyl-1H-pyrrolo(2,3-b)pyridin-3-yl)quinoxalin-2(1H)-one	7-(3-(cyclohexylmethyl)ureido)-3-(1-methyl-1H-pyrrolo(2,3-b)pyridin-3-yl)quinoxalin-2(1H)-one inhibits the reaction [PDGFB protein results in increased activity of PDGFRB protein]	17268099
C496492	abrine	abrine results in increased expression of PDGFRB mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in increased expression of PDGFRB mRNA	29067470
D000082	Acetaminophen	Acetaminophen affects the expression of PDGFRB mRNA	17562736
D000111	Acetylcysteine	Acetylcysteine inhibits the reaction [Copper Sulfate results in increased expression of PDGFRB mRNA]	23392711
D000111	Acetylcysteine	Acetylcysteine inhibits the reaction [Copper Sulfate results in increased expression of PDGFRB protein]	23392711
D000111	Acetylcysteine	Buthionine Sulfoximine inhibits the reaction [Acetylcysteine inhibits the reaction [Copper Sulfate results in increased expression of PDGFRB mRNA]]	23392711
D000111	Acetylcysteine	Buthionine Sulfoximine inhibits the reaction [Acetylcysteine inhibits the reaction [Copper Sulfate results in increased expression of PDGFRB protein]]	23392711
D000111	Acetylcysteine	Acetylcysteine inhibits the reaction [sodium arsenite results in increased expression of PDGFRB mRNA]	21134390
D000171	Acrolein	Acrolein binds to PDGFRB protein	16527993
D000452	Aldrin	[Dichlorodiphenyldichloroethane co-treated with Dichlorodiphenyl Dichloroethylene co-treated with 2,2-(2-chlorophenyl-4'-chlorophenyl)-1,1-dichloroethene co-treated with Aldrin co-treated with Dieldrin] results in increased expression of PDGFRB mRNA	19422813
D000452	Aldrin	[Hexachlorocyclohexane co-treated with Aldrin co-treated with Dieldrin co-treated with Endrin co-treated with Dichlorodiphenyl Dichloroethylene co-treated with Dichlorodiphenyldichloroethane co-treated with DDT co-treated with Simvastatin] results in increased expression of PDGFRB mRNA	28263720
C004471	allyl isothiocyanate	allyl isothiocyanate results in decreased expression of PDGFRB mRNA	24036144
D024502	alpha-Tocopherol	[alpha-Tocopherol co-treated with beta Carotene co-treated with Ascorbic Acid co-treated with Zinc co-treated with Sodium Selenite] results in decreased expression of PDGFRB mRNA	23859036
D024502	alpha-Tocopherol	[alpha-Tocopherol co-treated with beta Carotene co-treated with Ascorbic Acid co-treated with Zinc co-treated with Sodium Selenite] results in decreased expression of PDGFRB protein	23859036
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of PDGFRB mRNA	16483693
C106407	ampelopsin	ampelopsin analog inhibits the reaction [[PDGFB protein binds to PDGFB protein] which results in increased phosphorylation of PDGFRB protein]	21871475
D000880	Anthraquinones	Anthraquinones analog results in decreased activity of PDGFRB protein	27473261
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of PDGFRB mRNA	24449571
D001151	Arsenic	Arsenic affects the expression of PDGFRB mRNA	30746931
D000077237	Arsenic Trioxide	Arsenic Trioxide results in increased expression of PDGFRB mRNA	29633893
D001205	Ascorbic Acid	[alpha-Tocopherol co-treated with beta Carotene co-treated with Ascorbic Acid co-treated with Zinc co-treated with Sodium Selenite] results in decreased expression of PDGFRB mRNA	23859036
D001205	Ascorbic Acid	[alpha-Tocopherol co-treated with beta Carotene co-treated with Ascorbic Acid co-treated with Zinc co-treated with Sodium Selenite] results in decreased expression of PDGFRB protein	23859036
D001280	Atrazine	Atrazine results in increased expression of PDGFRB mRNA	22378314
D001397	Azoxymethane	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of PDGFRB mRNA	29950665
C030935	benz(a)anthracene	benz(a)anthracene results in increased expression of PDGFRB mRNA	26377693
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of PDGFRB mRNA	26001963
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of PDGFRB intron	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of PDGFRB mRNA	22316170; 26238291;
D001564	Benzo(a)pyrene	AHR protein inhibits the reaction [Benzo(a)pyrene results in increased expression of PDGFRB mRNA]	15034205
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of PDGFRB mRNA	21569818
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of PDGFRB mRNA	15034205; 22228805;
D001565	Benzoates	Benzoates analog results in decreased expression of PDGFRB protein	29472718
D019207	beta Carotene	[alpha-Tocopherol co-treated with beta Carotene co-treated with Ascorbic Acid co-treated with Zinc co-treated with Sodium Selenite] results in decreased expression of PDGFRB mRNA	23859036
D019207	beta Carotene	[alpha-Tocopherol co-treated with beta Carotene co-treated with Ascorbic Acid co-treated with Zinc co-treated with Sodium Selenite] results in decreased expression of PDGFRB protein	23859036
C023888	beta-hexachlorocyclohexane	beta-hexachlorocyclohexane results in decreased expression of PDGFRB mRNA	25270620
C044887	beta-methylcholine	beta-methylcholine affects the expression of PDGFRB mRNA	21179406
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of PDGFRB mRNA	30951980
C070515	bisindolylmaleimide I	bisindolylmaleimide I inhibits the reaction [Leukotriene D4 results in increased phosphorylation of and results in increased activity of PDGFRB protein]	12223454
C006780	bisphenol A	bisphenol A results in increased methylation of PDGFRB intron	30906313
C006780	bisphenol A	bisphenol A results in decreased expression of PDGFRB mRNA	26063408
C006780	bisphenol A	bisphenol A results in increased expression of PDGFRB mRNA	30951980
C006780	bisphenol A	bisphenol A affects the expression of PDGFRB mRNA	21786754
C006780	bisphenol A	[bisphenol A co-treated with Genistein] results in decreased methylation of PDGFRB gene	28505145
C006780	bisphenol A	[bisphenol A co-treated with Genistein] results in increased methylation of PDGFRB gene	28505145
C006780	bisphenol A	bisphenol A results in decreased expression of PDGFRB mRNA	25181051; 30816183;
C006780	bisphenol A	bisphenol A results in increased expression of PDGFRB mRNA	12604637; 29097150;
C006780	bisphenol A	bisphenol A results in increased expression of PDGFRB protein	12604637
C006780	bisphenol A	bisphenol A results in increased methylation of PDGFRB gene	28505145
C000611646	bisphenol F	[bisphenol F co-treated with Tretinoin] results in decreased expression of PDGFRB mRNA	30951980
C000611646	bisphenol F	bisphenol F results in increased expression of PDGFRB mRNA	30951980
D000069286	Bortezomib	[Bortezomib co-treated with Sorafenib] results in decreased phosphorylation of PDGFRB protein	16985072
D019328	Buthionine Sulfoximine	Buthionine Sulfoximine inhibits the reaction [Acetylcysteine inhibits the reaction [Copper Sulfate results in increased expression of PDGFRB mRNA]]	23392711
D019328	Buthionine Sulfoximine	Buthionine Sulfoximine inhibits the reaction [Acetylcysteine inhibits the reaction [Copper Sulfate results in increased expression of PDGFRB protein]]	23392711
D002104	Cadmium	[Cadmium Chloride results in increased abundance of Cadmium] which results in decreased expression of PDGFRB mRNA	29741670
D019256	Cadmium Chloride	[Cadmium Chloride results in increased abundance of Cadmium] which results in decreased expression of PDGFRB mRNA	29741670
C055494	caffeic acid phenethyl ester	[Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in increased expression of PDGFRB mRNA	20360939
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of PDGFRB mRNA	17962354; 27339419; 27477297; 29987408;
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of PDGFRB protein	27477297
D002251	Carbon Tetrachloride	F2R protein affects the reaction [Carbon Tetrachloride results in increased expression of PDGFRB mRNA]	17962354
D002251	Carbon Tetrachloride	NFE2L2 protein promotes the reaction [tetramethylpyrazine inhibits the reaction [Carbon Tetrachloride results in increased expression of PDGFRB mRNA]]	27477297
D002251	Carbon Tetrachloride	NFE2L2 protein promotes the reaction [tetramethylpyrazine inhibits the reaction [Carbon Tetrachloride results in increased expression of PDGFRB protein]]	27477297
D002251	Carbon Tetrachloride	PPARD protein affects the reaction [Carbon Tetrachloride results in increased expression of PDGFRB mRNA]	18038451
D002251	Carbon Tetrachloride	tetramethylpyrazine inhibits the reaction [Carbon Tetrachloride results in increased expression of PDGFRB mRNA]	27477297
D002251	Carbon Tetrachloride	tetramethylpyrazine inhibits the reaction [Carbon Tetrachloride results in increased expression of PDGFRB protein]	27477297
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of PDGFRB protein	17069927
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of PDGFRB mRNA	15623374; 18006644; 19646978; 30783172;
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of PDGFRB protein	19646978; 24144775;
D002251	Carbon Tetrachloride	Curcumin inhibits the reaction [Carbon Tetrachloride results in increased expression of PDGFRB mRNA]	18006644
D002251	Carbon Tetrachloride	epigallocatechin gallate inhibits the reaction [Carbon Tetrachloride results in increased expression of PDGFRB mRNA]	19646978
D002251	Carbon Tetrachloride	epigallocatechin gallate inhibits the reaction [Carbon Tetrachloride results in increased expression of PDGFRB protein]	19646978
D002251	Carbon Tetrachloride	Fish Oils inhibits the reaction [Carbon Tetrachloride results in increased expression of PDGFRB protein]	24144775
D002251	Carbon Tetrachloride	olmesartan inhibits the reaction [Carbon Tetrachloride results in increased expression of PDGFRB protein]	24144775
D002251	Carbon Tetrachloride	olmesartan inhibits the reaction [Fish Oils inhibits the reaction [Carbon Tetrachloride results in increased expression of PDGFRB protein]]	24144775
D002251	Carbon Tetrachloride	Y 27632 inhibits the reaction [Carbon Tetrachloride results in increased expression of PDGFRB mRNA]	30783172
D002713	Chlorine	[Ozone co-treated with Chlorine] affects the expression of PDGFRB mRNA	18636392
D002762	Cholecalciferol	Cholecalciferol results in increased expression of PDGFRB mRNA	17170073
D002793	Cholic Acids	[1-Naphthylisothiocyanate co-treated with Cholic Acids] affects the expression of PDGFRB mRNA	27344345
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of PDGFRB mRNA	20938992
D002809	Chondroitin Sulfates	Chondroitin Sulfates promotes the reaction [PDGFB protein results in increased phosphorylation of and results in increased activity of PDGFRB protein]	16945567
D002809	Chondroitin Sulfates	Genistein inhibits the reaction [Chondroitin Sulfates promotes the reaction [PDGFB protein results in increased phosphorylation of and results in increased activity of PDGFRB protein]]	16945567
D002945	Cisplatin	Cisplatin results in decreased expression of PDGFRB mRNA	21151649
D003300	Copper	[Disulfiram binds to Copper] which results in increased expression of PDGFRB mRNA	24690739
D019327	Copper Sulfate	Acetylcysteine inhibits the reaction [Copper Sulfate results in increased expression of PDGFRB mRNA]	23392711
D019327	Copper Sulfate	Acetylcysteine inhibits the reaction [Copper Sulfate results in increased expression of PDGFRB protein]	23392711
D019327	Copper Sulfate	Buthionine Sulfoximine inhibits the reaction [Acetylcysteine inhibits the reaction [Copper Sulfate results in increased expression of PDGFRB mRNA]]	23392711
D019327	Copper Sulfate	Buthionine Sulfoximine inhibits the reaction [Acetylcysteine inhibits the reaction [Copper Sulfate results in increased expression of PDGFRB protein]]	23392711
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of PDGFRB mRNA	19549813
D019327	Copper Sulfate	Copper Sulfate results in increased expression of PDGFRB mRNA	23392711
D019327	Copper Sulfate	Copper Sulfate results in increased expression of PDGFRB protein	23392711
D003314	Corn Oil	Corn Oil results in increased expression of PDGFRB mRNA	22760963
D003375	Coumestrol	Coumestrol results in increased expression of PDGFRB mRNA	12604637
D003375	Coumestrol	Coumestrol results in increased expression of PDGFRB protein	12604637
C497448	CP-673,451	CP-673,451 inhibits the reaction [PDGFB protein results in increased phosphorylation of PDGFRB protein]	15705896
C497448	CP-673,451	CP-673,451 results in decreased activity of PDGFRB protein	15705896
C497448	CP-673,451	CP-673,451 results in decreased phosphorylation of and results in decreased activity of PDGFRB protein	29857117
C497448	CP-673,451	CP-673,451 results in decreased phosphorylation of PDGFRB protein	15705896
C461979	CT52923	CT52923 binds to and results in decreased activity of PDGFRB protein	15994924
C461979	CT52923	CT52923 inhibits the reaction [PDGFB protein results in increased activity of PDGFRB protein]	17268099
C007164	cumene hydroperoxide	cumene hydroperoxide inhibits the reaction [PDGFB protein results in increased phosphorylation of PDGFRB protein]	16527993
D003474	Curcumin	Curcumin results in increased expression of PDGFRB mRNA	21594647
D003474	Curcumin	Curcumin inhibits the reaction [Carbon Tetrachloride results in increased expression of PDGFRB mRNA]	18006644
D003474	Curcumin	Curcumin results in decreased expression of PDGFRB mRNA	18332871
D003474	Curcumin	Curcumin results in decreased expression of PDGFRB protein	18332871
D003474	Curcumin	Curcumin results in decreased phosphorylation of PDGFRB protein	17372590; 18332871;
D016572	Cyclosporine	Cyclosporine results in decreased expression of PDGFRB mRNA	25562108
D016572	Cyclosporine	Cyclosporine results in increased expression of PDGFRB mRNA	20106945
D003545	Cysteine	Cysteine inhibits the reaction [PDGFB protein results in increased phosphorylation of PDGFRB protein]	15158331
D003545	Cysteine	Cysteine inhibits the reaction [Thioacetamide results in increased expression of PDGFRB protein]	15158331
D003545	Cysteine	Cysteine results in decreased expression of PDGFRB protein	15158331
D003561	Cytarabine	Cytarabine results in decreased expression of PDGFRB mRNA	21198554
D000069439	Dasatinib	Dasatinib results in decreased phosphorylation of PDGFRB protein	20664932
D000069439	Dasatinib	Dasatinib results in increased expression of PDGFRB mRNA	20579391
D000069439	Dasatinib	Dasatinib results in decreased activity of PDGFRB protein	21128601
D003634	DDT	[Hexachlorocyclohexane co-treated with Aldrin co-treated with Dieldrin co-treated with Endrin co-treated with Dichlorodiphenyl Dichloroethylene co-treated with Dichlorodiphenyldichloroethane co-treated with DDT co-treated with Simvastatin] results in increased expression of PDGFRB mRNA	28263720
D000077209	Decitabine	Decitabine results in increased expression of PDGFRB mRNA	21856257
D003676	Deferoxamine	Deferoxamine results in decreased expression of PDGFRB protein	18032466
C548688	dehydroglyasperin C	dehydroglyasperin C inhibits the reaction [PDGFB protein results in increased phosphorylation of PDGFRB protein]	23298457
D003871	Dermatan Sulfate	Dermatan Sulfate results in decreased expression of PDGFRB mRNA	16945567
D003907	Dexamethasone	[Dexamethasone co-treated with Rosiglitazone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS1 protein] results in decreased expression of PDGFRB mRNA	16054899
D003907	Dexamethasone	Dexamethasone results in decreased expression of PDGFRB mRNA	22733784
D003907	Dexamethasone	EGF protein inhibits the reaction [[Dexamethasone co-treated with Rosiglitazone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS1 protein] results in decreased expression of PDGFRB mRNA]	16054899
D003907	Dexamethasone	Tetrachlorodibenzodioxin inhibits the reaction [[Dexamethasone co-treated with Rosiglitazone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS1 protein] results in decreased expression of PDGFRB mRNA]	16054899
D016264	Dextran Sulfate	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of PDGFRB mRNA	29950665
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of PDGFRB mRNA	21266533
D003632	Dichlorodiphenyldichloroethane	[Dichlorodiphenyldichloroethane co-treated with Dichlorodiphenyl Dichloroethylene co-treated with 2,2-(2-chlorophenyl-4'-chlorophenyl)-1,1-dichloroethene co-treated with Aldrin co-treated with Dieldrin] results in increased expression of PDGFRB mRNA	19422813
D003632	Dichlorodiphenyldichloroethane	[Hexachlorocyclohexane co-treated with Aldrin co-treated with Dieldrin co-treated with Endrin co-treated with Dichlorodiphenyl Dichloroethylene co-treated with Dichlorodiphenyldichloroethane co-treated with DDT co-treated with Simvastatin] results in increased expression of PDGFRB mRNA	28263720
D003633	Dichlorodiphenyl Dichloroethylene	[Dichlorodiphenyldichloroethane co-treated with Dichlorodiphenyl Dichloroethylene co-treated with 2,2-(2-chlorophenyl-4'-chlorophenyl)-1,1-dichloroethene co-treated with Aldrin co-treated with Dieldrin] results in increased expression of PDGFRB mRNA	19422813
D003633	Dichlorodiphenyl Dichloroethylene	[Hexachlorocyclohexane co-treated with Aldrin co-treated with Dieldrin co-treated with Endrin co-treated with Dichlorodiphenyl Dichloroethylene co-treated with Dichlorodiphenyldichloroethane co-treated with DDT co-treated with Simvastatin] results in increased expression of PDGFRB mRNA	28263720
D004008	Diclofenac	Diclofenac results in decreased expression of PDGFRB mRNA	26934552
C000944	dicrotophos	dicrotophos results in increased expression of PDGFRB mRNA	28302478
C036042	dicyclohexyl phthalate	dicyclohexyl phthalate affects the expression of PDGFRB mRNA	26924002
D004026	Dieldrin	[Dichlorodiphenyldichloroethane co-treated with Dichlorodiphenyl Dichloroethylene co-treated with 2,2-(2-chlorophenyl-4'-chlorophenyl)-1,1-dichloroethene co-treated with Aldrin co-treated with Dieldrin] results in increased expression of PDGFRB mRNA	19422813
D004026	Dieldrin	[Hexachlorocyclohexane co-treated with Aldrin co-treated with Dieldrin co-treated with Endrin co-treated with Dichlorodiphenyl Dichloroethylene co-treated with Dichlorodiphenyldichloroethane co-treated with DDT co-treated with Simvastatin] results in increased expression of PDGFRB mRNA	28263720
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in increased expression of PDGFRB mRNA	20360939
D004052	Diethylnitrosamine	Diethylnitrosamine results in increased expression of PDGFRB mRNA	19638242
D004052	Diethylnitrosamine	Diethylnitrosamine results in increased expression of PDGFRB protein	26589970
D004054	Diethylstilbestrol	Diethylstilbestrol results in increased expression of PDGFRB mRNA	12604637
D004054	Diethylstilbestrol	Diethylstilbestrol results in increased expression of PDGFRB protein	12604637
C552122	dimerumic acid	dimerumic acid results in decreased expression of PDGFRB mRNA	24036144
C552122	dimerumic acid	NFE2L2 protein affects the reaction [dimerumic acid results in decreased expression of PDGFRB mRNA]	24036144
C015835	dimethyl-4-toluidine	dimethyl-4-toluidine results in decreased expression of PDGFRB mRNA	27638505
C024629	dimethyl phthalate	dimethyl phthalate affects the expression of PDGFRB mRNA	26924002
C446799	dinitrophenylhydrazine	dinitrophenylhydrazine inhibits the reaction [4-hydroxy-2-nonenal binds to PDGFRB protein]	16527993
D004221	Disulfiram	[Disulfiram binds to Copper] which results in increased expression of PDGFRB mRNA	24690739
D004317	Doxorubicin	Doxorubicin affects the expression of PDGFRB mRNA	29803840
D004642	Emodin	Emodin inhibits the reaction [PDGFB protein results in increased phosphorylation of PDGFRB protein]	15288473
D004642	Emodin	Emodin results in decreased expression of PDGFRB protein	15288473
D004732	Endrin	[Hexachlorocyclohexane co-treated with Aldrin co-treated with Dieldrin co-treated with Endrin co-treated with Dichlorodiphenyl Dichloroethylene co-treated with Dichlorodiphenyldichloroethane co-treated with DDT co-treated with Simvastatin] results in increased expression of PDGFRB mRNA	28263720
C118739	entinostat	entinostat results in decreased expression of PDGFRB protein	29845424
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of PDGFRB mRNA	22079256
C045651	epigallocatechin gallate	epigallocatechin gallate inhibits the reaction [Carbon Tetrachloride results in increased expression of PDGFRB mRNA]	19646978
C045651	epigallocatechin gallate	epigallocatechin gallate inhibits the reaction [Carbon Tetrachloride results in increased expression of PDGFRB protein]	19646978
D004958	Estradiol	[Progesterone co-treated with Estradiol] results in increased expression of PDGFRB mRNA	18692832
D000431	Ethanol	Ethanol results in increased expression of PDGFRB mRNA	30319688
D000431	Ethanol	Ethanol results in increased expression of PDGFRB mRNA	20116195
D000431	Ethanol	Fomepizole inhibits the reaction [Ethanol results in increased expression of PDGFRB mRNA]	20116195
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PDGFRB mRNA	17942748
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of PDGFRB mRNA	17557909
C540355	fenamidone	fenamidone results in increased expression of PDGFRB mRNA	27029645
D005395	Fish Oils	Fish Oils inhibits the reaction [Carbon Tetrachloride results in increased expression of PDGFRB protein]	24144775
D005395	Fish Oils	olmesartan inhibits the reaction [Fish Oils inhibits the reaction [Carbon Tetrachloride results in increased expression of PDGFRB protein]]	24144775
D005485	Flutamide	Flutamide results in increased expression of PDGFRB mRNA	20566332
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of PDGFRB mRNA	20938992
D000077604	Fomepizole	Fomepizole inhibits the reaction [Ethanol results in increased expression of PDGFRB mRNA]	20116195
C069837	fullerene C60	fullerene C60 results in decreased expression of PDGFRB mRNA	19167457
C039281	furan	furan results in increased expression of PDGFRB mRNA	27387713
D005665	Furosemide	Furosemide results in increased expression of PDGFRB mRNA	16526316
D019833	Genistein	Genistein inhibits the reaction [Chondroitin Sulfates promotes the reaction [PDGFB protein results in increased phosphorylation of and results in increased activity of PDGFRB protein]]	16945567
D019833	Genistein	Genistein results in decreased expression of PDGFRB mRNA	22228119
D019833	Genistein	[bisphenol A co-treated with Genistein] results in decreased methylation of PDGFRB gene	28505145
D019833	Genistein	[bisphenol A co-treated with Genistein] results in increased methylation of PDGFRB gene	28505145
D019833	Genistein	Genistein results in increased expression of PDGFRB mRNA	12604637
D019833	Genistein	Genistein results in increased expression of PDGFRB protein	12604637
D005978	Glutathione	PDGFRB protein results in increased abundance of Glutathione	29857117
C568713	GSK1210151A	GSK1210151A inhibits the reaction [TGFB1 protein results in increased expression of PDGFRB mRNA]	26644586
C568713	GSK1210151A	GSK1210151A results in decreased expression of PDGFRB mRNA	26644586
C000593030	GSK-J4	GSK-J4 results in decreased expression of PDGFRB mRNA	29301935
C412815	GW 4064	GW 4064 promotes the reaction [NR1H4 protein binds to PDGFRB gene]	20091679
D001556	Hexachlorocyclohexane	[Hexachlorocyclohexane co-treated with Aldrin co-treated with Dieldrin co-treated with Endrin co-treated with Dichlorodiphenyl Dichloroethylene co-treated with Dichlorodiphenyldichloroethane co-treated with DDT co-treated with Simvastatin] results in increased expression of PDGFRB mRNA	28263720
D006830	Hydralazine	Hydralazine inhibits the reaction [4-hydroxy-2-nonenal binds to PDGFRB protein]	16527993
D006861	Hydrogen Peroxide	Hydrogen Peroxide affects the expression of PDGFRB mRNA	20044591
D006861	Hydrogen Peroxide	HSPB1 protein inhibits the reaction [[Hydrogen Peroxide affects the activity of PDGFRB protein] which results in increased activity of MAPK1 protein]	14975446
D006861	Hydrogen Peroxide	HSPB1 protein inhibits the reaction [[Hydrogen Peroxide affects the activity of PDGFRB protein] which results in increased activity of MAPK3 protein]	14975446
D006861	Hydrogen Peroxide	[Hydrogen Peroxide affects the activity of PDGFRB protein] which results in increased activity of MAPK1 protein	14975446
D006861	Hydrogen Peroxide	[Hydrogen Peroxide affects the activity of PDGFRB protein] which results in increased activity of MAPK3 protein	14975446
D006861	Hydrogen Peroxide	Hydrogen Peroxide results in increased expression of PDGFRB mRNA	23022513
D006861	Hydrogen Peroxide	Hydrogen Peroxide results in increased expression of PDGFRB protein	23022513
D006861	Hydrogen Peroxide	tetramethylpyrazine inhibits the reaction [Hydrogen Peroxide results in increased expression of PDGFRB mRNA]	23022513
D006861	Hydrogen Peroxide	tetramethylpyrazine inhibits the reaction [Hydrogen Peroxide results in increased expression of PDGFRB protein]	23022513
D000068877	Imatinib Mesylate	Imatinib Mesylate results in decreased expression of PDGFRB protein	15786421
D000068877	Imatinib Mesylate	Imatinib Mesylate results in decreased phosphorylation of PDGFRB protein	15786421
D000068877	Imatinib Mesylate	Imatinib Mesylate results in decreased phosphorylation of PDGFRB protein	15867366
D000068877	Imatinib Mesylate	Imatinib Mesylate inhibits the reaction [nitrofen results in increased expression of PDGFRB protein]	22447953
D000068877	Imatinib Mesylate	Imatinib Mesylate results in decreased expression of PDGFRB mRNA	19242505
D000068877	Imatinib Mesylate	Imatinib Mesylate inhibits the reaction [PDGFB protein results in increased activity of PDGFRB protein]	17268099
D000068877	Imatinib Mesylate	Imatinib Mesylate results in decreased activity of PDGFRB protein	17377918; 23994742;
C078038	inchinko-to	inchinko-to inhibits the reaction [PDGFB protein results in increased phosphorylation of PDGFRB protein]	15288473
C078038	inchinko-to	inchinko-to inhibits the reaction [Thioacetamide results in increased expression of PDGFRB protein]	15288473
C545476	incobotulinumtoxinA	incobotulinumtoxinA results in increased expression of PDGFRB mRNA	29522793
D007213	Indomethacin	Indomethacin results in increased expression of PDGFRB mRNA	17440234
D019266	Iron, Dietary	Iron, Dietary affects the reaction [Thioacetamide affects the expression of PDGFRB mRNA]	18032466
D015474	Isotretinoin	Isotretinoin results in increased expression of PDGFRB mRNA	20436886
C561695	(+)-JQ1 compound	(+)-JQ1 compound inhibits the reaction [TGFB1 protein results in increased expression of PDGFRB mRNA]	26644586
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of PDGFRB mRNA	23430699; 24796395; 25961927; 26644586; 26752646;
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of PDGFRB mRNA	26644586
C060343	lercanidipine	lercanidipine results in decreased phosphorylation of PDGFRB protein	18973813
D017998	Leukotriene D4	6,7-dimethoxy-3-phenylquinoxaline inhibits the reaction [Leukotriene D4 results in increased phosphorylation of and results in increased activity of PDGFRB protein]	12223454
D017998	Leukotriene D4	bisindolylmaleimide I inhibits the reaction [Leukotriene D4 results in increased phosphorylation of and results in increased activity of PDGFRB protein]	12223454
D017998	Leukotriene D4	Leukotriene D4 promotes the reaction [SRC protein binds to PDGFRB protein]	12223454
D017998	Leukotriene D4	Leukotriene D4 results in increased phosphorylation of and results in increased activity of PDGFRB protein	12223454
D017998	Leukotriene D4	lipoxin A4 inhibits the reaction [Leukotriene D4 results in increased activity of PDGFRB protein]	12223454
D017998	Leukotriene D4	pobilukast inhibits the reaction [Leukotriene D4 results in increased phosphorylation of and results in increased activity of PDGFRB protein]	12223454
D008070	Lipopolysaccharides	Lipopolysaccharides results in decreased expression of PDGFRB mRNA	12057914
D008070	Lipopolysaccharides	Lipopolysaccharides results in increased expression of PDGFRB mRNA	27339419
C040527	lipoxin A4	lipoxin A4 affects the reaction [PDGFB protein results in increased phosphorylation of PDGFRB protein]	12223454
C040527	lipoxin A4	lipoxin A4 inhibits the reaction [Leukotriene D4 results in increased activity of PDGFRB protein]	12223454
C040527	lipoxin A4	lipoxin A4 results in decreased phosphorylation of PDGFRB protein	20709806
C040527	lipoxin A4	PDGFB protein promotes the reaction [lipoxin A4 results in decreased phosphorylation of PDGFRB protein]	20709806
D019808	Losartan	Losartan inhibits the reaction [AGT protein results in increased expression of PDGFRB mRNA]	17043664
C480486	malvidin-3-O-glucoside-4 vinyl	malvidin-3-O-glucoside-4 vinyl inhibits the reaction [[PDGFB protein binds to PDGFB protein] which results in increased phosphorylation of PDGFRB protein]	21871475
D008555	Melitten	Melitten results in decreased phosphorylation of and results in decreased activity of PDGFRB protein	17654254
D008694	Methamphetamine	Methamphetamine results in increased expression of PDGFRB mRNA	29802913
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of PDGFRB mRNA	20938992
D008715	Methionine	Methionine inhibits the reaction [PDGFB protein results in increased phosphorylation of PDGFRB protein]	15158331
D008715	Methionine	Methionine inhibits the reaction [Thioacetamide results in increased expression of PDGFRB protein]	15158331
D008715	Methionine	Methionine results in decreased expression of PDGFRB protein	15158331
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of PDGFRB mRNA	28001369
D015735	Mifepristone	Mifepristone results in decreased expression of PDGFRB mRNA	25972201
C517284	monomethyl phthalate	monomethyl phthalate affects the expression of PDGFRB mRNA	26924002
C500085	muraglitazar	muraglitazar results in increased expression of PDGFRB mRNA	21515302
D009151	Mustard Gas	IL10 protein affects the reaction [Mustard Gas affects the expression of PDGFRB mRNA]	16173061
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of PDGFRB mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of PDGFRB mRNA	25926378
D009538	Nicotine	6,7-dimethoxy-2-phenylquinoxaline inhibits the reaction [Nicotine results in increased expression of PDGFRB protein]	16149045
D009538	Nicotine	Nicotine results in increased expression of PDGFRB protein	16149045
D009538	Nicotine	Nicotine results in decreased phosphorylation of and results in decreased activity of PDGFRB protein	20447445
C007350	nitrofen	Imatinib Mesylate inhibits the reaction [nitrofen results in increased expression of PDGFRB protein]	22447953
C007350	nitrofen	nitrofen results in increased expression of PDGFRB protein	22447953
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of PDGFRB mRNA	20188158
C025256	nonylphenol	nonylphenol results in decreased expression of PDGFRB mRNA	15518916
C501177	NVP-AEW541	NVP-AEW541 results in decreased phosphorylation of PDGFRB protein	20664932
C437965	olmesartan	olmesartan inhibits the reaction [Carbon Tetrachloride results in increased expression of PDGFRB protein]	24144775
C437965	olmesartan	olmesartan inhibits the reaction [Fish Oils inhibits the reaction [Carbon Tetrachloride results in increased expression of PDGFRB protein]]	24144775
C507134	ON 01910	ON 01910 results in increased phosphorylation of PDGFRB protein	25472472
C412603	orantinib	orantinib results in decreased phosphorylation of and results in decreased activity of PDGFRB protein	16144927
C412603	orantinib	orantinib inhibits the reaction [PDGFB protein results in increased activity of PDGFRB protein]	17268099
C412603	orantinib	orantinib results in decreased activity of PDGFRB protein	14760097; 15551349; 15739567; 15788688; 16132614; 21517068;
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in increased expression of PDGFRB mRNA	25729387
D000077150	Oxaliplatin	Oxaliplatin results in increased expression of PDGFRB mRNA	25729387
D016627	Oxidopamine	Oxidopamine results in decreased expression of PDGFRB mRNA	15518916
D010100	Oxygen	Oxygen deficiency results in increased expression of and results in increased activity of PDGFRB protein	19520921
D010100	Oxygen	Rosiglitazone inhibits the reaction [Oxygen deficiency results in increased expression of and results in increased activity of PDGFRB protein]	19520921
D010126	Ozone	[Ozone co-treated with Chlorine] affects the expression of PDGFRB mRNA	18636392
D052638	Particulate Matter	Particulate Matter results in decreased expression of PDGFRB mRNA	23085030
C516667	pazopanib	pazopanib results in decreased activity of PDGFRB protein	19956806; 20616376;
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in increased expression of PDGFRB mRNA	28511854
D010634	Phenobarbital	Phenobarbital affects the expression of PDGFRB mRNA	23091169
D010795	Phthalic Acids	Phthalic Acids results in decreased expression of PDGFRB mRNA	15518916
C006253	pirinixic acid	pirinixic acid results in decreased expression of PDGFRB mRNA	18445702
C006253	pirinixic acid	pirinixic acid results in increased expression of PDGFRB mRNA	17426115
C052393	pobilukast	pobilukast inhibits the reaction [Leukotriene D4 results in increased phosphorylation of and results in increased activity of PDGFRB protein]	12223454
D059808	Polyphenols	Polyphenols results in decreased expression of PDGFRB mRNA	16293270
C545373	ponatinib	ponatinib analog results in decreased activity of PDGFRB protein	21561767
C545373	ponatinib	ponatinib results in decreased activity of PDGFRB protein	19878872
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of PDGFRB mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of PDGFRB mRNA	22079256
D011374	Progesterone	[Progesterone co-treated with Estradiol] results in increased expression of PDGFRB mRNA	18692832
C513428	pyrachlostrobin	pyrachlostrobin results in increased expression of PDGFRB mRNA	27029645
C432165	pyrazolanthrone	pyrazolanthrone results in decreased expression of PDGFRB mRNA	18332871
C432165	pyrazolanthrone	pyrazolanthrone results in decreased expression of PDGFRB protein	18332871
C014175	pyrazolo(3,4-d)pyrimidine	pyrazolo(3,4-d)pyrimidine analog affects the expression of PDGFRB mRNA	21152443
D020849	Raloxifene Hydrochloride	Raloxifene Hydrochloride affects the expression of PDGFRB mRNA	14699072
D017382	Reactive Oxygen Species	PDGFRB protein results in decreased abundance of Reactive Oxygen Species	29857117
D000077185	Resveratrol	Resveratrol inhibits the reaction [[PDGFB protein binds to PDGFB protein] which results in increased phosphorylation of PDGFRB protein]	23457620
D000077185	Resveratrol	Resveratrol inhibits the reaction [PDGFB protein results in increased phosphorylation of PDGFRB protein]	16343977
D000077185	Resveratrol	Resveratrol results in decreased phosphorylation of PDGFRB protein	18567737
D000077185	Resveratrol	[Resveratrol results in decreased phosphorylation of PDGFRB protein] which results in decreased phosphorylation of MAPK1 protein	18567737
D000077185	Resveratrol	[Resveratrol results in decreased phosphorylation of PDGFRB protein] which results in decreased phosphorylation of MAPK3 protein	18567737
D000077185	Resveratrol	[Resveratrol results in increased activity of PTPN1 protein] which results in decreased phosphorylation of PDGFRB protein	18567737
D000077185	Resveratrol	[[Resveratrol results in increased activity of PTPN1 protein] which results in decreased phosphorylation of PDGFRB protein] which results in decreased phosphorylation of MAPK1 protein	18567737
D000077185	Resveratrol	[[Resveratrol results in increased activity of PTPN1 protein] which results in decreased phosphorylation of PDGFRB protein] which results in decreased phosphorylation of MAPK3 protein	18567737
D000077154	Rosiglitazone	[Dexamethasone co-treated with Rosiglitazone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS1 protein] results in decreased expression of PDGFRB mRNA	16054899
D000077154	Rosiglitazone	EGF protein inhibits the reaction [[Dexamethasone co-treated with Rosiglitazone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS1 protein] results in decreased expression of PDGFRB mRNA]	16054899
D000077154	Rosiglitazone	Rosiglitazone inhibits the reaction [Oxygen deficiency results in increased expression of and results in increased activity of PDGFRB protein]	19520921
D000077154	Rosiglitazone	Tetrachlorodibenzodioxin inhibits the reaction [[Dexamethasone co-treated with Rosiglitazone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS1 protein] results in decreased expression of PDGFRB mRNA]	16054899
D000077154	Rosiglitazone	Rosiglitazone results in decreased expression of PDGFRB mRNA	17713437
D000077154	Rosiglitazone	Rosiglitazone results in increased expression of PDGFRB mRNA	21515302
D012402	Rotenone	Rotenone results in decreased expression of PDGFRB mRNA	28374803
C010327	salinomycin	salinomycin results in decreased expression of PDGFRB mRNA	19682730
D019821	Simvastatin	[Hexachlorocyclohexane co-treated with Aldrin co-treated with Dieldrin co-treated with Endrin co-treated with Dichlorodiphenyl Dichloroethylene co-treated with Dichlorodiphenyldichloroethane co-treated with DDT co-treated with Simvastatin] results in increased expression of PDGFRB mRNA	28263720
D019821	Simvastatin	Simvastatin results in decreased expression of PDGFRB mRNA	10412775
C017947	sodium arsenite	Acetylcysteine inhibits the reaction [sodium arsenite results in increased expression of PDGFRB mRNA]	21134390
C017947	sodium arsenite	sodium arsenite results in decreased expression of PDGFRB mRNA	16014739
C017947	sodium arsenite	sodium arsenite results in increased expression of PDGFRB mRNA	21134390
D012965	Sodium Chloride	Sodium Chloride results in increased expression of PDGFRB mRNA	23634900
D018038	Sodium Selenite	[alpha-Tocopherol co-treated with beta Carotene co-treated with Ascorbic Acid co-treated with Zinc co-treated with Sodium Selenite] results in decreased expression of PDGFRB mRNA	23859036
D018038	Sodium Selenite	[alpha-Tocopherol co-treated with beta Carotene co-treated with Ascorbic Acid co-treated with Zinc co-treated with Sodium Selenite] results in decreased expression of PDGFRB protein	23859036
D053260	Soot	Soot results in decreased expression of PDGFRB mRNA	26551751
D000077157	Sorafenib	[Bortezomib co-treated with Sorafenib] results in decreased phosphorylation of PDGFRB protein	16985072
D000077157	Sorafenib	Sorafenib results in decreased activity of PDGFRB protein mutant form	17229632
D000077157	Sorafenib	Sorafenib results in decreased phosphorylation of PDGFRB protein	19139124
D000077157	Sorafenib	Sorafenib results in decreased expression of PDGFRB mRNA	19338580
D000077157	Sorafenib	Sorafenib results in decreased phosphorylation of and results in decreased activity of PDGFRB protein	19338580
D000077157	Sorafenib	Sorafenib affects the activity of PDGFRB protein	18808443
D000077157	Sorafenib	Sorafenib results in decreased activity of PDGFRB protein	20616376
D000077210	Sunitinib	Sunitinib results in decreased activity of PDGFRB protein	20616376
C501413	tesaglitazar	tesaglitazar results in increased expression of PDGFRB mRNA	21515302
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of PDGFRB mRNA	22298810
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of PDGFRB mRNA	20106945; 21632981; 26238291;
D013749	Tetrachlorodibenzodioxin	AHR protein inhibits the reaction [Tetrachlorodibenzodioxin results in increased expression of PDGFRB mRNA]	15034205
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of PDGFRB mRNA	21570461; 26377647;
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PDGFRB mRNA	17942748
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin inhibits the reaction [[Dexamethasone co-treated with Rosiglitazone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS1 protein] results in decreased expression of PDGFRB mRNA]	16054899
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin promotes the reaction [AHR protein binds to PDGFRB gene]	20819909
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of PDGFRB mRNA	18691609; 20819909; 26290441;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of PDGFRB mRNA	15034205; 20819909;
C017953	tetramethylpyrazine	NFE2L2 protein promotes the reaction [tetramethylpyrazine inhibits the reaction [Carbon Tetrachloride results in increased expression of PDGFRB mRNA]]	27477297
C017953	tetramethylpyrazine	NFE2L2 protein promotes the reaction [tetramethylpyrazine inhibits the reaction [Carbon Tetrachloride results in increased expression of PDGFRB protein]]	27477297
C017953	tetramethylpyrazine	tetramethylpyrazine inhibits the reaction [Carbon Tetrachloride results in increased expression of PDGFRB mRNA]	27477297
C017953	tetramethylpyrazine	tetramethylpyrazine inhibits the reaction [Carbon Tetrachloride results in increased expression of PDGFRB protein]	27477297
C017953	tetramethylpyrazine	tetramethylpyrazine inhibits the reaction [Hydrogen Peroxide results in increased expression of PDGFRB mRNA]	23022513
C017953	tetramethylpyrazine	tetramethylpyrazine inhibits the reaction [Hydrogen Peroxide results in increased expression of PDGFRB protein]	23022513
C020809	tetrathiomolybdate	tetrathiomolybdate results in decreased expression of PDGFRB protein	18480265
D013792	Thalidomide	Thalidomide results in increased expression of PDGFRB mRNA	19751816
D013853	Thioacetamide	Cysteine inhibits the reaction [Thioacetamide results in increased expression of PDGFRB protein]	15158331
D013853	Thioacetamide	inchinko-to inhibits the reaction [Thioacetamide results in increased expression of PDGFRB protein]	15288473
D013853	Thioacetamide	Iron, Dietary affects the reaction [Thioacetamide affects the expression of PDGFRB mRNA]	18032466
D013853	Thioacetamide	Methionine inhibits the reaction [Thioacetamide results in increased expression of PDGFRB protein]	15158331
D013853	Thioacetamide	Thioacetamide results in increased expression of PDGFRB protein	15158331; 15288473;
C009495	titanium dioxide	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of PDGFRB mRNA	29950665
D014050	Toluene	Toluene results in increased expression of PDGFRB mRNA	22967744
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in increased expression of PDGFRB mRNA	25729387
D019772	Topotecan	Topotecan results in increased expression of PDGFRB mRNA	25729387
D014118	Toxins, Biological	Toxins, Biological affects the expression of PDGFRB mRNA	19682533
D014212	Tretinoin	Tretinoin results in increased expression of PDGFRB mRNA	23724009
D014212	Tretinoin	[bisphenol F co-treated with Tretinoin] results in decreased expression of PDGFRB mRNA	30951980
D014212	Tretinoin	Tretinoin results in increased expression of PDGFRB mRNA	21295132
D014212	Tretinoin	Tretinoin results in increased expression of PDGFRB protein	21295132
D014212	Tretinoin	Tretinoin results in increased expression of PDGFRB mRNA alternative form	17303670
C013320	tris(2-butoxyethyl) phosphate	tris(2-butoxyethyl) phosphate affects the expression of PDGFRB mRNA	29024780
D000077288	Troglitazone	Troglitazone results in decreased expression of PDGFRB mRNA	28973697
D014415	Tunicamycin	Tunicamycin results in decreased expression of PDGFRB mRNA	22378314
D014635	Valproic Acid	Valproic Acid results in decreased expression of PDGFRB mRNA	29154799
D014635	Valproic Acid	Valproic Acid results in increased methylation of PDGFRB gene	29154799
D014635	Valproic Acid	Valproic Acid results in decreased expression of PDGFRB protein	29845424
D014635	Valproic Acid	Valproic Acid results in increased expression of PDGFRB mRNA	24896083
D014640	Vancomycin	Vancomycin results in decreased expression of PDGFRB mRNA	18930951
C025643	vinclozolin	vinclozolin results in increased expression of PDGFRB mRNA	20566332
D014810	Vitamin E	Vitamin E results in increased expression of PDGFRB mRNA	19244175
C412469	vitisin A	vitisin A inhibits the reaction [[PDGFB protein binds to PDGFB protein] which results in increased phosphorylation of PDGFRB protein]	21871475
C108830	Y 27632	Y 27632 inhibits the reaction [Carbon Tetrachloride results in increased expression of PDGFRB mRNA]	30783172
D015032	Zinc	[alpha-Tocopherol co-treated with beta Carotene co-treated with Ascorbic Acid co-treated with Zinc co-treated with Sodium Selenite] results in decreased expression of PDGFRB mRNA	23859036
D015032	Zinc	[alpha-Tocopherol co-treated with beta Carotene co-treated with Ascorbic Acid co-treated with Zinc co-treated with Sodium Selenite] results in decreased expression of PDGFRB protein	23859036

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0067	ATP-binding
KW-1003	Cell membrane
KW-0145	Chemotaxis
KW-0160	Chromosomal rearrangement
KW-0968	Cytoplasmic vesicle
KW-0217	Developmental protein
KW-0903	Direct protein sequencing
KW-0225	Disease mutation
KW-1015	Disulfide bond
KW-0325	Glycoprotein
KW-0393	Immunoglobulin domain
KW-0418	Kinase
KW-0458	Lysosome
KW-0472	Membrane
KW-0547	Nucleotide-binding
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-0656	Proto-oncogene
KW-0675	Receptor
KW-1185	Reference proteome
KW-0677	Repeat
KW-0732	Signal
KW-0808	Transferase
KW-0812	Transmembrane
KW-1133	Transmembrane helix
KW-0829	Tyrosine-protein kinase
KW-0832	Ubl conjugation

Interpro

InterPro ID	InterPro Term
IPR007110	Ig-like_dom
IPR036179	Ig-like_dom_sf
IPR013783	Ig-like_fold
IPR013098	Ig_I-set
IPR003599	Ig_sub
IPR003598	Ig_sub2
IPR013151	Immunoglobulin
IPR011009	Kinase-like_dom_sf
IPR027288	PGFRB
IPR000719	Prot_kinase_dom
IPR017441	Protein_kinase_ATP_BS
IPR001245	Ser-Thr/Tyr_kinase_cat_dom
IPR008266	Tyr_kinase_AS
IPR020635	Tyr_kinase_cat_dom
IPR001824	Tyr_kinase_rcpt_3_CS

PROSITE

PROSITE ID	PROSITE Term
PS50835	IG_LIKE
PS00107	PROTEIN_KINASE_ATP
PS50011	PROTEIN_KINASE_DOM
PS00109	PROTEIN_KINASE_TYR
PS00240	RECEPTOR_TYR_KIN_III

Pfam

Pfam ID	Pfam Term
PF07679	I-set
PF00047	ig
PF07714	Pkinase_Tyr

Gene: PDGFRB

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