CleftGeneDB-Search

Gene: PDGFRA

Basic information

Tag	Content
Uniprot ID	P16234; B2RE69; E9PBH0; Q6P4H5; Q96KZ7; Q9UD28;
Entrez ID	5156
Genbank protein ID	AAP69563.1; BAA08742.1; AAH15186.1; AAA60048.1; AAA96715.1; BAG38166.1; AAH63414.1;
Genbank nucleotide ID	XM_005265743.1; NM_001347829.1; NM_006206.5;
Ensembl protein ID	ENSP00000424218; ENSP00000425648; ENSP00000257290;
Ensembl nucleotide ID	ENSG00000134853
Gene name	Platelet-derived growth factor receptor alpha
Gene symbol	PDGFRA
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Tyrosine-protein kinase that acts as a cell-surface receptor for PDGFA, PDGFB and PDGFC and plays an essential role in the regulation of embryonic development, cell proliferation, survival and chemotaxis. Depending on the context, promotes or inhibits cell proliferation and cell migration. Plays an important role in the differentiation of bone marrow-derived mesenchymal stem cells. Required for normal skeleton development and cephalic closure during embryonic development. Required for normal development of the mucosa lining the gastrointestinal tract, and for recruitment of mesenchymal cells and normal development of intestinal villi. Plays a role in cell migration and chemotaxis in wound healing. Plays a role in platelet activation, secretion of agonists from platelet granules, and in thrombin-induced platelet aggregation. Binding of its cognate ligands - homodimeric PDGFA, homodimeric PDGFB, heterodimers formed by PDGFA and PDGFB or homodimeric PDGFC -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 PIK3R1, PLCG1, and PTPN11. 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. Phosphorylates PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, and thereby mediates activation of the AKT1 signaling pathway. Mediates activation of HRAS and of the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. Promotes activation of STAT family members STAT1, STAT3 and STAT5A and/or STAT5B. 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	MGTSHPAFLV LGCLLTGLSL ILCQLSLPSI LPNENEKVVQ LNSSFSLRCF GESEVSWQYP 60 MSEEESSDVE IRNEENNSGL FVTVLEVSSA SAAHTGLYTC YYNHTQTEEN ELEGRHIYIY 120 VPDPDVAFVP LGMTDYLVIV EDDDSAIIPC RTTDPETPVT LHNSEGVVPA SYDSRQGFNG 180 TFTVGPYICE ATVKGKKFQT IPFNVYALKA TSELDLEMEA LKTVYKSGET IVVTCAVFNN 240 EVVDLQWTYP GEVKGKGITM LEEIKVPSIK LVYTLTVPEA TVKDSGDYEC AARQATREVK 300 EMKKVTISVH EKGFIEIKPT FSQLEAVNLH EVKHFVVEVR AYPPPRISWL KNNLTLIENL 360 TEITTDVEKI QEIRYRSKLK LIRAKEEDSG HYTIVAQNED AVKSYTFELL TQVPSSILDL 420 VDDHHGSTGG QTVRCTAEGT PLPDIEWMIC KDIKKCNNET SWTILANNVS NIITEIHSRD 480 RSTVEGRVTF AKVEETIAVR CLAKNLLGAE NRELKLVAPT LRSELTVAAA VLVLLVIVII 540 SLIVLVVIWK QKPRYEIRWR VIESISPDGH EYIYVDPMQL PYDSRWEFPR DGLVLGRVLG 600 SGAFGKVVEG TAYGLSRSQP VMKVAVKMLK PTARSSEKQA LMSELKIMTH LGPHLNIVNL 660 LGACTKSGPI YIITEYCFYG DLVNYLHKNR DSFLSHHPEK PKKELDIFGL NPADESTRSY 720 VILSFENNGD YMDMKQADTT QYVPMLERKE VSKYSDIQRS LYDRPASYKK KSMLDSEVKN 780 LLSDDNSEGL TLLDLLSFTY QVARGMEFLA SKNCVHRDLA ARNVLLAQGK IVKICDFGLA 840 RDIMHDSNYV SKGSTFLPVK WMAPESIFDN LYTTLSDVWS YGILLWEIFS LGGTPYPGMM 900 VDSTFYNKIK SGYRMAKPDH ATSEVYEIMV KCWNSEPEKR PSFYHLSEIV ENLLPGQYKK 960 SYEKIHLDFL KSDHPAVARM RVDSDNAYIG VTYKNEEDKL KDWEGGLDEQ RLSADSGYII 1020 PLPDIDPVPE EEDLGKRNRH SSQTSEESAI ETGSSSSTFI KREDETIEDI DMMDDIGIDS 1080 SDLVEDSFL 1089

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
5GRN
5K5X
6A32
6JOI
6JOJ
6JOK
6JOL
5GRN
5K5X

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	PDGFRA	282301	F1MX49			Bos taurus	Prediction	More>>
1:1 ortholog	PDGFRA	442860	A0A5F4CSF2			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	PDGFRA	102174007	A0A452DR61			Capra hircus	Prediction	More>>
1:1 ortholog	PDGFRA	100059815	F7A2X2			Equus caballus	Prediction	More>>
1:1 ortholog	PDGFRA	5156	P16234			Homo sapiens	Prediction	More>>
1:1 ortholog	Pdgfra	18595	P26618	CPO	E12.5, E13.5, E14.5	Mus musculus	Publication	More>>
1:1 ortholog	PDGFRA	461318	H2QPH4			Pan troglodytes	Prediction	More>>
1:1 ortholog	PDGFRA		A0A287AYB4			Sus scrofa	Prediction	More>>
1:1 ortholog	Pdgfra	25267	G3V6A0			Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
RCV000545506	p.Ser4Phe	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54258779C>T	ClinVar
RCV000633792	p.Ser4Cys	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54258779C>G	ClinVar
rs138929755	p.Ser4Tyr	missense variant	-	NC_000004.12:g.54258779C>A	ESP,ExAC,TOPMed,gnomAD
rs138929755	p.Ser4Phe	missense variant	-	NC_000004.12:g.54258779C>T	ESP,ExAC,TOPMed,gnomAD
rs138929755	p.Ser4Cys	missense variant	-	NC_000004.12:g.54258779C>G	ESP,ExAC,TOPMed,gnomAD
rs776018656	p.His5Leu	missense variant	-	NC_000004.12:g.54258782A>T	ExAC,gnomAD
RCV000234684	p.Pro6Leu	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54258785C>T	ClinVar
NCI-TCGA novel	p.Pro6Gln	missense variant	-	NC_000004.12:g.54258785C>A	NCI-TCGA
rs759019262	p.Pro6Thr	missense variant	-	NC_000004.12:g.54258784C>A	ExAC,gnomAD
rs754092062	p.Pro6Leu	missense variant	-	NC_000004.12:g.54258785C>T	ExAC,TOPMed,gnomAD
rs759019262	p.Pro6Ala	missense variant	-	NC_000004.12:g.54258784C>G	ExAC,gnomAD
RCV000633759	p.Ala7Glu	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54258788C>A	ClinVar
RCV000232147	p.Ala7Val	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54258788C>T	ClinVar
rs764472307	p.Ala7Glu	missense variant	-	NC_000004.12:g.54258788C>A	ExAC,TOPMed,gnomAD
COSM4904481	p.Ala7Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54258787G>A	NCI-TCGA Cosmic
rs764472307	p.Ala7Val	missense variant	-	NC_000004.12:g.54258788C>T	ExAC,TOPMed,gnomAD
rs1467619698	p.Ala7Ser	missense variant	-	NC_000004.12:g.54258787G>T	gnomAD
rs1060501519	p.Val10Ile	missense variant	-	NC_000004.12:g.54258796G>A	-
RCV000460861	p.Val10Ile	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54258796G>A	ClinVar
rs781404006	p.Val10Asp	missense variant	-	NC_000004.12:g.54258797T>A	ExAC,gnomAD
rs1440200916	p.Gly12Ala	missense variant	-	NC_000004.12:g.54258803G>C	TOPMed,gnomAD
rs1440200916	p.Gly12Val	missense variant	-	NC_000004.12:g.54258803G>T	TOPMed,gnomAD
rs1227672940	p.Cys13Tyr	missense variant	-	NC_000004.12:g.54258806G>A	gnomAD
rs1286350038	p.Leu15Pro	missense variant	-	NC_000004.12:g.54258812T>C	gnomAD
RCV000121786	p.Thr16Ser	missense variant	-	NC_000004.12:g.54258814A>T	ClinVar
rs587778596	p.Thr16Ser	missense variant	-	NC_000004.12:g.54258814A>T	TOPMed,gnomAD
rs766600687	p.Gly17Val	missense variant	-	NC_000004.12:g.54261095G>T	ExAC,TOPMed,gnomAD
RCV000540572	p.Gly17Val	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261095G>T	ClinVar
COSM283922	p.Ser19Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54261101G>T	NCI-TCGA Cosmic
rs1553902342	p.Leu20Val	missense variant	-	NC_000004.12:g.54261103C>G	-
RCV000633814	p.Leu20Val	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261103C>G	ClinVar
rs1334714267	p.Ile21Thr	missense variant	-	NC_000004.12:g.54261107T>C	TOPMed
RCV000543350	p.Leu22Phe	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261109C>T	ClinVar
rs975510328	p.Leu22Phe	missense variant	-	NC_000004.12:g.54261109C>T	TOPMed
rs561082994	p.Cys23Gly	missense variant	-	NC_000004.12:g.54261112T>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ser26Thr	missense variant	-	NC_000004.12:g.54261121T>A	NCI-TCGA
NCI-TCGA novel	p.Ser26Ter	stop gained	-	NC_000004.12:g.54261122C>G	NCI-TCGA
rs529666430	p.Leu27Phe	missense variant	-	NC_000004.12:g.54261126A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs758425314	p.Leu27Ser	missense variant	-	NC_000004.12:g.54261125T>C	ExAC,gnomAD
NCI-TCGA novel	p.Pro28His	missense variant	-	NC_000004.12:g.54261128C>A	NCI-TCGA
rs1377805967	p.Pro28Arg	missense variant	-	NC_000004.12:g.54261128C>G	TOPMed
RCV000121792	p.Ser29Phe	missense variant	-	NC_000004.12:g.54261131C>T	ClinVar
rs587778600	p.Ser29Phe	missense variant	-	NC_000004.12:g.54261131C>T	ExAC,gnomAD
rs746846673	p.Ser29Pro	missense variant	-	NC_000004.12:g.54261130T>C	ExAC,gnomAD
RCV000472004	p.Ile30Val	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261133A>G	ClinVar
rs780747709	p.Ile30Val	missense variant	-	NC_000004.12:g.54261133A>G	ExAC,TOPMed,gnomAD
rs1437048036	p.Ile30Thr	missense variant	-	NC_000004.12:g.54261134T>C	TOPMed,gnomAD
RCV000466810	p.Pro32Thr	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261139C>A	ClinVar
rs936241714	p.Pro32Thr	missense variant	-	NC_000004.12:g.54261139C>A	TOPMed
RCV000458123	p.Asn33Tyr	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261142A>T	ClinVar
rs200979664	p.Asn33Tyr	missense variant	-	NC_000004.12:g.54261142A>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM3917923	p.Glu34Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54261145G>A	NCI-TCGA Cosmic
RCV000470819	p.Asn35Asp	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261148A>G	ClinVar
rs769386190	p.Asn35Asp	missense variant	-	NC_000004.12:g.54261148A>G	ExAC,TOPMed,gnomAD
rs1553902353	p.Lys37Asn	missense variant	-	NC_000004.12:g.54261156G>T	-
RCV000633808	p.Lys37Asn	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261156G>T	ClinVar
RCV000706455	p.Val38Ile	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261157G>A	ClinVar
rs1553902356	p.Val39Met	missense variant	-	NC_000004.12:g.54261160G>A	-
RCV000633757	p.Val39Met	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261160G>A	ClinVar
rs769214355	p.Gln40Arg	missense variant	-	NC_000004.12:g.54261164A>G	ExAC,gnomAD
RCV000633798	p.Leu41Pro	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261167T>C	ClinVar
rs1341010273	p.Leu41Pro	missense variant	-	NC_000004.12:g.54261167T>C	gnomAD
rs1341010273	p.Leu41Gln	missense variant	-	NC_000004.12:g.54261167T>A	gnomAD
NCI-TCGA novel	p.Ser44IlePheSerTerUnk	frameshift	-	NC_000004.12:g.54261166_54261167insTGAATTCAATCTGTGATGTG	NCI-TCGA
rs774911799	p.Ser44Phe	missense variant	-	NC_000004.12:g.54261176C>T	ExAC,TOPMed,gnomAD
rs774911799	p.Ser44Cys	missense variant	-	NC_000004.12:g.54261176C>G	ExAC,TOPMed,gnomAD
RCV000474628	p.Phe45Leu	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261178T>C	ClinVar
rs149408217	p.Phe45Leu	missense variant	-	NC_000004.12:g.54261178T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser46Tyr	missense variant	-	NC_000004.12:g.54261182C>A	NCI-TCGA
RCV000633805	p.Arg48Ser	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261189A>C	ClinVar
rs1553902375	p.Arg48Ser	missense variant	-	NC_000004.12:g.54261189A>C	-
NCI-TCGA novel	p.Phe50Cys	missense variant	-	NC_000004.12:g.54261194T>G	NCI-TCGA
rs1190592187	p.Ser53Asn	missense variant	-	NC_000004.12:g.54261203G>A	gnomAD
NCI-TCGA novel	p.Glu54Val	missense variant	-	NC_000004.12:g.54261206A>T	NCI-TCGA
RCV000633782	p.Val55Leu	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261208G>T	ClinVar
rs773412686	p.Val55Leu	missense variant	-	NC_000004.12:g.54261208G>T	ExAC,gnomAD
rs773412686	p.Val55Met	missense variant	-	NC_000004.12:g.54261208G>A	ExAC,gnomAD
RCV000533882	p.Ser56Thr	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261212G>C	ClinVar
rs587778601	p.Ser56Thr	missense variant	-	NC_000004.12:g.54261212G>C	ExAC,TOPMed,gnomAD
COSM1056039	p.Trp57Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54261214T>C	NCI-TCGA Cosmic
rs1186935022	p.Gln58Arg	missense variant	-	NC_000004.12:g.54261218A>G	gnomAD
COSM75894	p.Tyr59Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54261220T>A	NCI-TCGA Cosmic
COSM3604490	p.Glu63Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54261232G>A	NCI-TCGA Cosmic
rs1163869258	p.Glu65Val	missense variant	-	NC_000004.12:g.54261239A>T	gnomAD
NCI-TCGA novel	p.Ser66Arg	missense variant	-	NC_000004.12:g.54261243C>A	NCI-TCGA
rs143783500	p.Ser66Arg	missense variant	-	NC_000004.12:g.54261241A>C	ESP,ExAC
RCV000467799	p.Asp68Asn	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261247G>A	ClinVar
rs1060501504	p.Asp68Asn	missense variant	-	NC_000004.12:g.54261247G>A	gnomAD
RCV000633844	p.Val69Met	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261250G>A	ClinVar
rs1363843815	p.Val69Met	missense variant	-	NC_000004.12:g.54261250G>A	gnomAD
rs757101121	p.Val69Ala	missense variant	-	NC_000004.12:g.54261251T>C	ExAC,gnomAD
rs1553902408	p.Ile71Phe	missense variant	-	NC_000004.12:g.54261256A>T	-
RCV000633776	p.Ile71Phe	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261256A>T	ClinVar
COSM6100290	p.Ile71Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54261258C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg72Lys	missense variant	-	NC_000004.12:g.54261260G>A	NCI-TCGA
rs1285564229	p.Glu75Gln	missense variant	-	NC_000004.12:g.54261268G>C	gnomAD
RCV000552021	p.Glu75Gln	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261268G>C	ClinVar
rs1379511323	p.Glu75Gly	missense variant	-	NC_000004.12:g.54261269A>G	gnomAD
rs1553902415	p.Asn76Ser	missense variant	-	NC_000004.12:g.54261272A>G	-
RCV000633843	p.Asn76Ser	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261272A>G	ClinVar
RCV000633779	p.Asn77Ser	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261275A>G	ClinVar
rs1553902417	p.Asn77Ser	missense variant	-	NC_000004.12:g.54261275A>G	-
RCV000704776	p.Ser78Asn	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261278G>A	ClinVar
RCV000121794	p.Gly79Asp	missense variant	-	NC_000004.12:g.54261281G>A	ClinVar
RCV000633800	p.Gly79Ser	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261280G>A	ClinVar
rs36035373	p.Gly79Asp	missense variant	-	NC_000004.12:g.54261281G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1333247214	p.Gly79Ser	missense variant	-	NC_000004.12:g.54261280G>A	gnomAD
rs36035373	p.Gly79Asp	missense variant	-	NC_000004.12:g.54261281G>A	UniProt,dbSNP
VAR_042032	p.Gly79Asp	missense variant	-	NC_000004.12:g.54261281G>A	UniProt
rs768193197	p.Val82Met	missense variant	-	NC_000004.12:g.54261289G>A	ExAC,gnomAD
rs779332376	p.Thr83Met	missense variant	-	NC_000004.12:g.54261293C>T	ExAC,TOPMed,gnomAD
RCV000474089	p.Thr83Met	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261293C>T	ClinVar
rs1354007102	p.Leu85Met	missense variant	-	NC_000004.12:g.54261298T>A	TOPMed
RCV000633717	p.Glu86Ala	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261302A>C	ClinVar
rs773726970	p.Glu86Ala	missense variant	-	NC_000004.12:g.54261302A>C	ExAC,gnomAD
rs1473497171	p.Val87Ala	missense variant	-	NC_000004.12:g.54261305T>C	gnomAD
RCV000475902	p.Ser88Thr	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261308G>C	ClinVar
rs1060501515	p.Ser88Thr	missense variant	-	NC_000004.12:g.54261308G>C	-
RCV000539821	p.Ser91Leu	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261317C>T	ClinVar
rs538480165	p.Ser91Leu	missense variant	-	NC_000004.12:g.54261317C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000633716	p.Ala92Val	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261320C>T	ClinVar
rs759729258	p.Ala92Val	missense variant	-	NC_000004.12:g.54261320C>T	ExAC,TOPMed,gnomAD
rs752669159	p.Ala93Val	missense variant	-	NC_000004.12:g.54261323C>T	ExAC,gnomAD
RCV000633823	p.His94Gln	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261327C>A	ClinVar
rs1418656533	p.His94Tyr	missense variant	-	NC_000004.12:g.54261325C>T	TOPMed
rs750282565	p.His94Gln	missense variant	-	NC_000004.12:g.54261327C>A	ExAC,gnomAD
NCI-TCGA novel	p.Thr95Ile	missense variant	-	NC_000004.12:g.54261329C>T	NCI-TCGA
rs1451975443	p.Leu97Met	missense variant	-	NC_000004.12:g.54261334T>A	TOPMed,gnomAD
rs1313263168	p.Leu97Ter	stop gained	-	NC_000004.12:g.54261335T>A	TOPMed,gnomAD
NCI-TCGA novel	p.Tyr98Ter	stop gained	-	NC_000004.12:g.54261339C>A	NCI-TCGA
rs1265201159	p.Thr99Ala	missense variant	-	NC_000004.12:g.54261340A>G	TOPMed
rs1367611443	p.Cys100Ter	stop gained	-	NC_000004.12:g.54261345C>A	gnomAD
rs779726497	p.Tyr101Cys	missense variant	-	NC_000004.12:g.54261347A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn103Lys	missense variant	-	NC_000004.12:g.54261354C>G	NCI-TCGA
rs1222128776	p.Asn103Asp	missense variant	-	NC_000004.12:g.54261352A>G	gnomAD
rs1222128776	p.Asn103His	missense variant	-	NC_000004.12:g.54261352A>C	gnomAD
rs1004486437	p.Asn103Ser	missense variant	-	NC_000004.12:g.54261353A>G	TOPMed
rs1281779836	p.Thr105Pro	missense variant	-	NC_000004.12:g.54261358A>C	TOPMed
rs753461949	p.Thr105Ile	missense variant	-	NC_000004.12:g.54261359C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gln106Ter	stop gained	-	NC_000004.12:g.54261361C>T	NCI-TCGA
RCV000232670	p.Glu108Lys	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261367G>A	ClinVar
rs878854829	p.Glu108Lys	missense variant	-	NC_000004.12:g.54261367G>A	TOPMed,gnomAD
COSM1220050	p.Glu109Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54261372G>T	NCI-TCGA Cosmic
rs1230872708	p.Asn110Ser	missense variant	-	NC_000004.12:g.54261374A>G	TOPMed
rs1255071376	p.Glu111Gly	missense variant	-	NC_000004.12:g.54261377A>G	gnomAD
NCI-TCGA novel	p.Glu113Asp	missense variant	-	NC_000004.12:g.54261384A>C	NCI-TCGA
RCV000703510	p.Gly114Ala	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261386G>C	ClinVar
COSM6100289	p.Pro122Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54261409C>A	NCI-TCGA Cosmic
RCV000633834	p.Pro124Leu	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263670C>T	ClinVar
rs918962982	p.Pro124Leu	missense variant	-	NC_000004.12:g.54263670C>T	TOPMed
rs1167372221	p.Asp125Val	missense variant	-	NC_000004.12:g.54263673A>T	TOPMed
rs762935664	p.Asp125His	missense variant	-	NC_000004.12:g.54263672G>C	ExAC,gnomAD
RCV000227624	p.Ala127Gly	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263679C>G	ClinVar
rs759705682	p.Ala127Gly	missense variant	-	NC_000004.12:g.54263679C>G	-
NCI-TCGA novel	p.Val129Ala	missense variant	-	NC_000004.12:g.54263685T>C	NCI-TCGA
RCV000468425	p.Thr134Met	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263700C>T	ClinVar
rs373126818	p.Thr134Met	missense variant	-	NC_000004.12:g.54263700C>T	ESP,ExAC,TOPMed,gnomAD
rs766197882	p.Asp135Glu	missense variant	-	NC_000004.12:g.54263704T>A	ExAC,gnomAD
rs766197882	p.Asp135Glu	missense variant	-	NC_000004.12:g.54263704T>G	ExAC,gnomAD
rs1326143004	p.Tyr136Ser	missense variant	-	NC_000004.12:g.54263706A>C	gnomAD
rs1181941483	p.Leu137Ile	missense variant	-	NC_000004.12:g.54263708T>A	TOPMed
RCV000633789	p.Val140Met	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263717G>A	ClinVar
rs574683248	p.Val140Met	missense variant	-	NC_000004.12:g.54263717G>A	1000Genomes,ExAC,gnomAD
rs574683248	p.Val140Leu	missense variant	-	NC_000004.12:g.54263717G>T	1000Genomes,ExAC,gnomAD
RCV000633833	p.Glu141Asp	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263722G>T	ClinVar
rs757790893	p.Glu141Ala	missense variant	-	NC_000004.12:g.54263721A>C	ExAC,gnomAD
COSM4125125	p.Glu141Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54263720G>A	NCI-TCGA Cosmic
rs1187957560	p.Glu141Asp	missense variant	-	NC_000004.12:g.54263722G>T	TOPMed
rs201614191	p.Asp142Glu	missense variant	-	NC_000004.12:g.54263725T>G	1000Genomes,ExAC,gnomAD
rs1337241636	p.Asp142Val	missense variant	-	NC_000004.12:g.54263724A>T	gnomAD
rs1337241636	p.Asp142Gly	missense variant	-	NC_000004.12:g.54263724A>G	gnomAD
RCV000526325	p.Asp143Glu	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263728T>G	ClinVar
rs1553902692	p.Asp143Glu	missense variant	-	NC_000004.12:g.54263728T>G	-
rs376497743	p.Asp144Tyr	missense variant	-	NC_000004.12:g.54263729G>T	ESP,ExAC,TOPMed,gnomAD
rs770117588	p.Asp144Gly	missense variant	-	NC_000004.12:g.54263730A>G	ExAC,TOPMed,gnomAD
rs770117588	p.Asp144Val	missense variant	-	NC_000004.12:g.54263730A>T	ExAC,TOPMed,gnomAD
RCV000695356	p.Ser145Thr	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263732T>A	ClinVar
RCV000534210	p.Ala146Asp	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263736C>A	ClinVar
rs1191201033	p.Ala146Pro	missense variant	-	NC_000004.12:g.54263735G>C	gnomAD
rs1249349361	p.Ala146Asp	missense variant	-	NC_000004.12:g.54263736C>A	gnomAD
rs1249349361	p.Ala146Val	missense variant	-	NC_000004.12:g.54263736C>T	gnomAD
rs553864636	p.Ile147Val	missense variant	-	NC_000004.12:g.54263738A>G	1000Genomes,gnomAD
RCV000633765	p.Cys150Arg	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263747T>C	ClinVar
rs1173137221	p.Cys150Arg	missense variant	-	NC_000004.12:g.54263747T>C	gnomAD
rs1060501501	p.Arg151His	missense variant	-	NC_000004.12:g.54263751G>A	-
RCV000475355	p.Arg151His	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263751G>A	ClinVar
rs1449637193	p.Arg151Cys	missense variant	-	NC_000004.12:g.54263750C>T	gnomAD
RCV000633770	p.Thr152Ile	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263754C>T	ClinVar
rs749430582	p.Thr152Ile	missense variant	-	NC_000004.12:g.54263754C>T	ExAC,gnomAD
rs775558761	p.Thr152Ala	missense variant	-	NC_000004.12:g.54263753A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asp154Tyr	missense variant	-	NC_000004.12:g.54263759G>T	NCI-TCGA
rs948286384	p.Asp154Gly	missense variant	-	NC_000004.12:g.54263760A>G	TOPMed,gnomAD
COSM3604493	p.Pro155Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54263763C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu156Asp	missense variant	-	NC_000004.12:g.54263767G>T	NCI-TCGA
RCV000470048	p.Glu156Lys	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263765G>A	ClinVar
rs760631068	p.Glu156Lys	missense variant	-	NC_000004.12:g.54263765G>A	ExAC,TOPMed,gnomAD
RCV000551511	p.Thr157Ile	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263769C>T	ClinVar
rs1553902717	p.Thr157Ile	missense variant	-	NC_000004.12:g.54263769C>T	-
COSM3604494	p.Leu161Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54263780T>G	NCI-TCGA Cosmic
rs916537173	p.His162Arg	missense variant	-	NC_000004.12:g.54263784A>G	TOPMed
RCV000527534	p.Asn163Lys	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263788C>G	ClinVar
RCV000698378	p.Asn163Ser	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263787A>G	ClinVar
rs1360565030	p.Asn163Ser	missense variant	-	NC_000004.12:g.54263787A>G	TOPMed
rs576890188	p.Asn163Lys	missense variant	-	NC_000004.12:g.54263788C>G	1000Genomes,ExAC,gnomAD
RCV000633802	p.Ser164Arg	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263791T>G	ClinVar
rs776491556	p.Ser164Arg	missense variant	-	NC_000004.12:g.54263791T>G	ExAC,gnomAD
rs1295802121	p.Gly166Val	missense variant	-	NC_000004.12:g.54263796G>T	TOPMed
rs587778602	p.Val167Met	missense variant	-	NC_000004.12:g.54263798G>A	ExAC,TOPMed,gnomAD
RCV000227178	p.Val167Met	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263798G>A	ClinVar
COSM1430063	p.Val167TrpPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.54263794G>-	NCI-TCGA Cosmic
rs587778602	p.Val167Leu	missense variant	-	NC_000004.12:g.54263798G>T	ExAC,TOPMed,gnomAD
rs752270672	p.Val168Leu	missense variant	-	NC_000004.12:g.54263801G>C	ExAC,gnomAD
rs752270672	p.Val168Ile	missense variant	-	NC_000004.12:g.54263801G>A	ExAC,gnomAD
rs1349637223	p.Ala170Val	missense variant	-	NC_000004.12:g.54263808C>T	TOPMed
rs758027394	p.Ser171Phe	missense variant	-	NC_000004.12:g.54263811C>T	ExAC,TOPMed,gnomAD
COSM1056045	p.Ser171Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54263810T>A	NCI-TCGA Cosmic
rs1284633844	p.Tyr172His	missense variant	-	NC_000004.12:g.54263813T>C	gnomAD
rs763718380	p.Asp173His	missense variant	-	NC_000004.12:g.54263816G>C	ExAC,TOPMed,gnomAD
RCV000230573	p.Asp173Asn	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263816G>A	ClinVar
rs763718380	p.Asp173Asn	missense variant	-	NC_000004.12:g.54263816G>A	ExAC,TOPMed,gnomAD
RCV000553051	p.Ser174Asn	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263820G>A	ClinVar
rs1207595829	p.Ser174Asn	missense variant	-	NC_000004.12:g.54263820G>A	gnomAD
rs1464980046	p.Ser174Gly	missense variant	-	NC_000004.12:g.54263819A>G	gnomAD
RCV000633840	p.Gln176Arg	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263826A>G	ClinVar
rs139217250	p.Gln176Arg	missense variant	-	NC_000004.12:g.54263826A>G	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Thr181ProGluValLeuIleArgValArg	insertion	-	NC_000004.12:g.54263842_54263843insCCTGAAGTTTTAATCCGTGTAAGA	NCI-TCGA
rs746299618	p.Thr181Asn	missense variant	-	NC_000004.12:g.54263841C>A	ExAC,gnomAD
NCI-TCGA novel	p.Phe182SerPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.54263841_54263842insGAGT	NCI-TCGA
RCV000707244	p.Val184Ile	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263849G>A	ClinVar
NCI-TCGA novel	p.Val184Leu	missense variant	-	NC_000004.12:g.54263849G>C	NCI-TCGA
RCV000700820	p.Val184Leu	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263849G>T	ClinVar
rs367711512	p.Val184Ala	missense variant	-	NC_000004.12:g.54263850T>C	ESP,TOPMed,gnomAD
COSM116329	p.Gly185Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54263853G>A	NCI-TCGA Cosmic
COSM1310129	p.Gly185Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54263852G>A	NCI-TCGA Cosmic
COSM587620	p.Gly185Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54263852G>T	NCI-TCGA Cosmic
rs780359954	p.Ile188Val	missense variant	-	NC_000004.12:g.54263861A>G	ExAC,gnomAD
RCV000529330	p.Ala191Ser	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263870G>T	ClinVar
rs267600185	p.Ala191Ser	missense variant	-	NC_000004.12:g.54263870G>T	ExAC,gnomAD
rs1342445882	p.Ala191Gly	missense variant	-	NC_000004.12:g.54263871C>G	TOPMed
rs267600185	p.Ala191Thr	missense variant	-	NC_000004.12:g.54263870G>A	ExAC,gnomAD
rs1273444748	p.Thr192Ser	missense variant	-	NC_000004.12:g.54263874C>G	TOPMed
rs774431464	p.Val193Ile	missense variant	-	NC_000004.12:g.54263876G>A	ExAC,TOPMed,gnomAD
rs748162423	p.Lys194Glu	missense variant	-	NC_000004.12:g.54263879A>G	ExAC,gnomAD
rs1323449085	p.Lys194Arg	missense variant	-	NC_000004.12:g.54263880A>G	gnomAD
NCI-TCGA novel	p.Lys196Asn	missense variant	-	NC_000004.12:g.54263887G>T	NCI-TCGA
RCV000546356	p.Lys197Thr	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263889A>C	ClinVar
rs200484286	p.Lys197Thr	missense variant	-	NC_000004.12:g.54263889A>C	1000Genomes,ExAC,gnomAD
RCV000462670	p.Phe198Leu	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263893C>G	ClinVar
rs1018795199	p.Phe198Leu	missense variant	-	NC_000004.12:g.54263893C>G	TOPMed,gnomAD
rs562479351	p.Phe198Ile	missense variant	-	NC_000004.12:g.54263891T>A	1000Genomes,ExAC,gnomAD
rs1304120162	p.Gln199Glu	missense variant	-	NC_000004.12:g.54263894C>G	TOPMed
RCV000284407	p.Thr200Ser	missense variant	Idiopathic hypereosinophilic syndrome (HES)	NC_000004.12:g.54263898C>G	ClinVar
RCV000228399	p.Thr200Ser	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263898C>G	ClinVar
rs149951350	p.Thr200Ser	missense variant	-	NC_000004.12:g.54263898C>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro202Gln	missense variant	-	NC_000004.12:g.54263904C>A	NCI-TCGA
RCV000554525	p.Asn204Asp	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263909A>G	ClinVar
rs1553902754	p.Asn204Asp	missense variant	-	NC_000004.12:g.54263909A>G	-
rs775304724	p.Val205Ile	missense variant	-	NC_000004.12:g.54263912G>A	ExAC,TOPMed,gnomAD
rs889394408	p.Leu208Phe	missense variant	-	NC_000004.12:g.54263923A>C	gnomAD
RCV000535429	p.Ala210Glu	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54264919C>A	ClinVar
NCI-TCGA novel	p.Ala210GlnPheSerTerUnk	frameshift	-	NC_000004.12:g.54263923A>-	NCI-TCGA
rs761446758	p.Ala210Val	missense variant	-	NC_000004.12:g.54264919C>T	ExAC,gnomAD
rs761446758	p.Ala210Glu	missense variant	-	NC_000004.12:g.54264919C>A	ExAC,gnomAD
rs1170188252	p.Thr211Ala	missense variant	-	NC_000004.12:g.54264921A>G	gnomAD
RCV000689422	p.Thr211Ile	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54264922C>T	ClinVar
RCV000685223	p.Glu213Gly	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54264928A>G	ClinVar
rs1461389031	p.Glu213Ala	missense variant	-	NC_000004.12:g.54264928A>C	gnomAD
rs1369701227	p.Leu214Val	missense variant	-	NC_000004.12:g.54264930C>G	gnomAD
rs749903216	p.Asp215His	missense variant	-	NC_000004.12:g.54264933G>C	ExAC,gnomAD
rs761102425	p.Asp215Val	missense variant	-	NC_000004.12:g.54264934A>T	ExAC,gnomAD
rs766847405	p.Leu216Ile	missense variant	-	NC_000004.12:g.54264936C>A	ExAC,TOPMed,gnomAD
COSM6100288	p.Glu217Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54264940A>T	NCI-TCGA Cosmic
RCV000560573	p.Glu219Gln	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54264945G>C	ClinVar
rs1230177198	p.Glu219Gln	missense variant	-	NC_000004.12:g.54264945G>C	gnomAD
COSM6100287	p.Ala220Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54264949C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu221Arg	missense variant	-	NC_000004.12:g.54264952T>G	NCI-TCGA
RCV000204480	p.Leu221Phe	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54264951C>T	ClinVar
rs139913632	p.Leu221Phe	missense variant	-	NC_000004.12:g.54264951C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM1430065	p.Lys222Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54264955A>C	NCI-TCGA Cosmic
RCV000536629	p.Val224Met	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54264960G>A	ClinVar
RCV000693730	p.Val224Leu	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54264960G>C	ClinVar
rs1248275606	p.Val224Met	missense variant	-	NC_000004.12:g.54264960G>A	TOPMed
RCV000231929	p.Tyr225Cys	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54264964A>G	ClinVar
rs878854831	p.Tyr225Cys	missense variant	-	NC_000004.12:g.54264964A>G	-
NCI-TCGA novel	p.Ser227Ter	stop gained	-	NC_000004.12:g.54264970C>A	NCI-TCGA
NCI-TCGA novel	p.Glu229Val	missense variant	-	NC_000004.12:g.54264976A>T	NCI-TCGA
rs1250098734	p.Glu229Gln	missense variant	-	NC_000004.12:g.54264975G>C	gnomAD
COSM3409357	p.Glu229Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54264975G>A	NCI-TCGA Cosmic
rs752886996	p.Thr230Met	missense variant	-	NC_000004.12:g.54264979C>T	ExAC,gnomAD
rs758580911	p.Val232Leu	missense variant	-	NC_000004.12:g.54264984G>T	ExAC,gnomAD
RCV000522735	p.Thr234Ile	missense variant	-	NC_000004.12:g.54264991C>T	ClinVar
rs1553902931	p.Thr234Ile	missense variant	-	NC_000004.12:g.54264991C>T	-
COSM3604496	p.Cys235Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54264994G>C	NCI-TCGA Cosmic
COSM42897	p.Cys235Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54264994G>A	NCI-TCGA Cosmic
rs1452760876	p.Cys235Arg	missense variant	-	NC_000004.12:g.54264993T>C	gnomAD
rs1190791014	p.Val237Ala	missense variant	-	NC_000004.12:g.54265000T>C	gnomAD
rs769686275	p.Asn239Lys	missense variant	-	NC_000004.12:g.54265007C>G	ExAC,gnomAD
rs747042094	p.Asn239Tyr	missense variant	-	NC_000004.12:g.54265005A>T	ExAC,gnomAD
rs749141162	p.Asn240Ser	missense variant	-	NC_000004.12:g.54265009A>G	ExAC,TOPMed,gnomAD
RCV000549404	p.Asn240His	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54265008A>C	ClinVar
rs1553902944	p.Asn240His	missense variant	-	NC_000004.12:g.54265008A>C	-
rs749141162	p.Asn240Thr	missense variant	-	NC_000004.12:g.54265009A>C	ExAC,TOPMed,gnomAD
RCV000226332	p.Glu241Lys	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54265011G>A	ClinVar
rs878854832	p.Glu241Lys	missense variant	-	NC_000004.12:g.54265011G>A	TOPMed,gnomAD
rs1324568225	p.Val242Met	missense variant	-	NC_000004.12:g.54265014G>A	gnomAD
COSM481337	p.Val242Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54265014G>T	NCI-TCGA Cosmic
RCV000229176	p.Val243Ile	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54265017G>A	ClinVar
rs774246071	p.Val243Ile	missense variant	-	NC_000004.12:g.54265017G>A	ExAC,gnomAD
rs910676195	p.Pro250Ala	missense variant	-	NC_000004.12:g.54265038C>G	TOPMed
COSM3974937	p.Pro250Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54265039C>T	NCI-TCGA Cosmic
RCV000457715	p.Gly251Glu	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54265042G>A	ClinVar
rs771701353	p.Gly251Glu	missense variant	-	NC_000004.12:g.54265042G>A	ExAC,gnomAD
RCV000538111	p.Glu252Val	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54265045A>T	ClinVar
COSM1056050	p.Glu252Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.54265044G>T	NCI-TCGA Cosmic
rs1553902958	p.Glu252Val	missense variant	-	NC_000004.12:g.54265045A>T	-
rs772605262	p.Glu252Lys	missense variant	-	NC_000004.12:g.54265044G>A	ExAC,gnomAD
rs1214333123	p.Val253Glu	missense variant	-	NC_000004.12:g.54265048T>A	gnomAD
rs1553903204	p.Gly255Ser	missense variant	-	NC_000004.12:g.54267292G>A	-
RCV000633763	p.Gly255Ser	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267292G>A	ClinVar
COSM3604497	p.Gly257Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54267298G>A	NCI-TCGA Cosmic
COSM5995340	p.Gly257Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54267299G>A	NCI-TCGA Cosmic
rs1039985533	p.Ile258Phe	missense variant	-	NC_000004.12:g.54267301A>T	TOPMed,gnomAD
rs1039985533	p.Ile258Val	missense variant	-	NC_000004.12:g.54267301A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Thr259Ile	missense variant	-	NC_000004.12:g.54267305C>T	NCI-TCGA
RCV000460666	p.Thr259Ala	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267304A>G	ClinVar
rs1060501503	p.Thr259Ala	missense variant	-	NC_000004.12:g.54267304A>G	-
rs1412240615	p.Met260Arg	missense variant	-	NC_000004.12:g.54267308T>G	gnomAD
rs373234192	p.Met260Val	missense variant	-	NC_000004.12:g.54267307A>G	ESP,ExAC,gnomAD
RCV000633778	p.Glu262Lys	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267313G>A	ClinVar
RCV000473827	p.Glu262Gln	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267313G>C	ClinVar
rs376265745	p.Glu262Lys	missense variant	-	NC_000004.12:g.54267313G>A	ESP,ExAC,TOPMed,gnomAD
rs376265745	p.Glu262Gln	missense variant	-	NC_000004.12:g.54267313G>C	ESP,ExAC,TOPMed,gnomAD
rs763363386	p.Lys265Asn	missense variant	-	NC_000004.12:g.54267324A>C	ExAC,gnomAD
rs1280969522	p.Lys265Gln	missense variant	-	NC_000004.12:g.54267322A>C	gnomAD
NCI-TCGA novel	p.Val266Ile	missense variant	-	NC_000004.12:g.54267325G>A	NCI-TCGA
COSM283924	p.Val266Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54267326T>C	NCI-TCGA Cosmic
RCV000525805	p.Pro267Ser	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267328C>T	ClinVar
rs757378016	p.Pro267Ser	missense variant	-	NC_000004.12:g.54267328C>T	ExAC,TOPMed,gnomAD
RCV000472082	p.Ser268Thr	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267331T>A	ClinVar
rs140245841	p.Ser268Thr	missense variant	-	NC_000004.12:g.54267331T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs754973533	p.Ser268Phe	missense variant	-	NC_000004.12:g.54267332C>T	ExAC,gnomAD
rs545359247	p.Lys270Arg	missense variant	-	NC_000004.12:g.54267338A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs545359247	p.Lys270Thr	missense variant	-	NC_000004.12:g.54267338A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1263572484	p.Lys270Glu	missense variant	-	NC_000004.12:g.54267337A>G	TOPMed
NCI-TCGA novel	p.Val272Met	missense variant	-	NC_000004.12:g.54267343G>A	NCI-TCGA
RCV000538238	p.Thr274Ser	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267349A>T	ClinVar
rs758194640	p.Thr274Ser	missense variant	-	NC_000004.12:g.54267350C>G	ExAC,gnomAD
rs747956260	p.Thr274Ser	missense variant	-	NC_000004.12:g.54267349A>T	ExAC,TOPMed,gnomAD
rs1433722204	p.Leu275Ser	missense variant	-	NC_000004.12:g.54267353T>C	gnomAD
RCV000301188	p.Thr276Met	missense variant	Idiopathic hypereosinophilic syndrome (HES)	NC_000004.12:g.54267356C>T	ClinVar
RCV000356042	p.Thr276Met	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267356C>T	ClinVar
rs142492533	p.Thr276Met	missense variant	-	NC_000004.12:g.54267356C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu279Ter	stop gained	-	NC_000004.12:g.54267364G>T	NCI-TCGA
RCV000633736	p.Glu279Lys	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267364G>A	ClinVar
rs776121704	p.Glu279Lys	missense variant	-	NC_000004.12:g.54267364G>A	ExAC,TOPMed,gnomAD
RCV000465878	p.Ala280Ser	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267367G>T	ClinVar
rs150927351	p.Ala280Ser	missense variant	-	NC_000004.12:g.54267367G>T	ESP,ExAC,TOPMed,gnomAD
RCV000232711	p.Thr281Met	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267371C>T	ClinVar
rs770343276	p.Thr281Met	missense variant	-	NC_000004.12:g.54267371C>T	ExAC,TOPMed,gnomAD
COSM4125127	p.Val282Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54267374T>C	NCI-TCGA Cosmic
COSM265841	p.Val282Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54267374T>A	NCI-TCGA Cosmic
RCV000121798	p.Ser285Gly	missense variant	-	NC_000004.12:g.54267382A>G	ClinVar
rs541057765	p.Ser285Gly	missense variant	-	NC_000004.12:g.54267382A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asp287Tyr	missense variant	-	NC_000004.12:g.54267388G>T	NCI-TCGA
rs1305108075	p.Asp287Gly	missense variant	-	NC_000004.12:g.54267389A>G	TOPMed
RCV000633806	p.Asp287Asn	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267388G>A	ClinVar
rs1553903251	p.Asp287Asn	missense variant	-	NC_000004.12:g.54267388G>A	-
COSM3409358	p.Tyr288His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54267391T>C	NCI-TCGA Cosmic
rs958381664	p.Glu289Lys	missense variant	-	NC_000004.12:g.54267394G>A	TOPMed,gnomAD
RCV000633819	p.Glu289Lys	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267394G>A	ClinVar
RCV000229404	p.Ala291Gly	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267401C>G	ClinVar
rs774527841	p.Ala291Gly	missense variant	-	NC_000004.12:g.54267401C>G	ExAC,gnomAD
RCV000459421	p.Arg293Cys	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267406C>T	ClinVar
RCV000764536	p.Arg293His	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267407G>A	ClinVar
RCV000633837	p.Arg293His	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267407G>A	ClinVar
rs762106764	p.Arg293Cys	missense variant	-	NC_000004.12:g.54267406C>T	ExAC,TOPMed,gnomAD
rs373948582	p.Arg293His	missense variant	-	NC_000004.12:g.54267407G>A	ESP,ExAC,TOPMed,gnomAD
rs373948582	p.Arg293Leu	missense variant	-	NC_000004.12:g.54267407G>T	ESP,ExAC,TOPMed,gnomAD
rs760828332	p.Thr296Ala	missense variant	-	NC_000004.12:g.54267415A>G	ExAC,TOPMed,gnomAD
RCV000459535	p.Arg297Lys	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267419G>A	ClinVar
rs1060501507	p.Arg297Lys	missense variant	-	NC_000004.12:g.54267419G>A	-
rs765319021	p.Arg297Gly	missense variant	-	NC_000004.12:g.54267418A>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu298Val	missense variant	-	NC_000004.12:g.54267422A>T	NCI-TCGA
RCV000034724	p.Val299Ala	missense variant	-	NC_000004.12:g.54267425T>C	ClinVar
rs752649434	p.Val299Ile	missense variant	-	NC_000004.12:g.54267424G>A	ExAC,gnomAD
rs200033396	p.Val299Ala	missense variant	-	NC_000004.12:g.54267425T>C	ExAC,TOPMed,gnomAD
rs996658686	p.Lys300Glu	missense variant	-	NC_000004.12:g.54267427A>G	TOPMed,gnomAD
RCV000539737	p.Lys300Glu	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267427A>G	ClinVar
RCV000227792	p.Lys300Thr	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267428A>C	ClinVar
rs368648130	p.Lys300Thr	missense variant	-	NC_000004.12:g.54267428A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM283925	p.Glu301Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.54267430G>T	NCI-TCGA Cosmic
RCV000633838	p.Glu301Lys	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267430G>A	ClinVar
rs751257703	p.Glu301Ala	missense variant	-	NC_000004.12:g.54267431A>C	ExAC,TOPMed,gnomAD
rs751257703	p.Glu301Val	missense variant	-	NC_000004.12:g.54267431A>T	ExAC,TOPMed,gnomAD
rs1553903287	p.Glu301Lys	missense variant	-	NC_000004.12:g.54267430G>A	-
RCV000552216	p.Met302Leu	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267433A>T	ClinVar
RCV000465542	p.Met302Val	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267433A>G	ClinVar
rs1060501512	p.Met302Val	missense variant	-	NC_000004.12:g.54267433A>G	-
rs1060501512	p.Met302Leu	missense variant	-	NC_000004.12:g.54267433A>T	-
NCI-TCGA novel	p.Lys303Asn	missense variant	-	NC_000004.12:g.54267438G>T	NCI-TCGA
RCV000533063	p.Val305Ile	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267442G>A	ClinVar
rs1396396699	p.Val305Ile	missense variant	-	NC_000004.12:g.54267442G>A	TOPMed,gnomAD
RCV000687518	p.Thr306Ala	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267445A>G	ClinVar
rs1408714732	p.Thr306Ala	missense variant	-	NC_000004.12:g.54267445A>G	gnomAD
rs1553903298	p.Ile307Met	missense variant	-	NC_000004.12:g.54267450T>G	-
rs371882159	p.Ile307Val	missense variant	-	NC_000004.12:g.54267448A>G	ESP,ExAC,gnomAD
RCV000540947	p.Ile307Met	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267450T>G	ClinVar
rs1395338355	p.Val309Ala	missense variant	-	NC_000004.12:g.54267455T>C	gnomAD
NCI-TCGA novel	p.His310GlyPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.54267456_54267457insGG	NCI-TCGA
COSM1056055	p.Glu311Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54267553G>T	NCI-TCGA Cosmic
COSM4125128	p.Gly313Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54267558G>T	NCI-TCGA Cosmic
rs1293806775	p.Gly313Ala	missense variant	-	NC_000004.12:g.54267558G>C	gnomAD
rs779626645	p.Thr320Ile	missense variant	-	NC_000004.12:g.54267579C>T	ExAC,gnomAD
COSM6167431	p.Phe321Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54267582T>A	NCI-TCGA Cosmic
RCV000558273	p.Gln323His	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267589G>C	ClinVar
rs138296072	p.Gln323Glu	missense variant	-	NC_000004.12:g.54267587C>G	ESP,ExAC,TOPMed,gnomAD
RCV000467030	p.Gln323Glu	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267587C>G	ClinVar
rs769276081	p.Gln323His	missense variant	-	NC_000004.12:g.54267589G>C	ExAC,gnomAD
rs769276081	p.Gln323His	missense variant	-	NC_000004.12:g.54267589G>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu324Phe	missense variant	-	NC_000004.12:g.54267592G>T	NCI-TCGA
rs748576202	p.Val327Leu	missense variant	-	NC_000004.12:g.54267599G>C	ExAC,gnomAD
RCV000633732	p.Asn328Asp	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267602A>G	ClinVar
rs878854835	p.Asn328Ser	missense variant	-	NC_000004.12:g.54267603A>G	gnomAD
rs772538462	p.Asn328Asp	missense variant	-	NC_000004.12:g.54267602A>G	ExAC,gnomAD
RCV000230626	p.Asn328Ser	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267603A>G	ClinVar
RCV000694062	p.Leu329Pro	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267606T>C	ClinVar
rs1162814935	p.Leu329Pro	missense variant	-	NC_000004.12:g.54267606T>C	TOPMed,gnomAD
RCV000530074	p.His330Tyr	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267608C>T	ClinVar
rs991683337	p.His330Tyr	missense variant	-	NC_000004.12:g.54267608C>T	TOPMed,gnomAD
COSM283926	p.Glu331Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.54267611G>T	NCI-TCGA Cosmic
COSM3604498	p.Glu331Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54267611G>A	NCI-TCGA Cosmic
RCV000287493	p.Val332Ala	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267615T>C	ClinVar
rs878854837	p.Val332Ala	missense variant	-	NC_000004.12:g.54267615T>C	-
RCV000381886	p.Val332Ala	missense variant	Idiopathic hypereosinophilic syndrome (HES)	NC_000004.12:g.54267615T>C	ClinVar
RCV000227020	p.Val332Asp	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267615T>A	ClinVar
rs878854837	p.Val332Asp	missense variant	-	NC_000004.12:g.54267615T>A	-
COSM48645	p.Glu338Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54267632G>C	NCI-TCGA Cosmic
rs747257877	p.Val339Leu	missense variant	-	NC_000004.12:g.54267635G>T	ExAC,gnomAD
rs77524207	p.Arg340Gln	missense variant	-	NC_000004.12:g.54267639G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000034712	p.Arg340Gln	missense variant	-	NC_000004.12:g.54267639G>A	ClinVar
RCV000473903	p.Arg340Trp	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267638C>T	ClinVar
rs376626935	p.Arg340Trp	missense variant	-	NC_000004.12:g.54267638C>T	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Pro343Ser	missense variant	-	NC_000004.12:g.54267647C>T	NCI-TCGA
rs764140125	p.Pro344Thr	missense variant	-	NC_000004.12:g.54267650C>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro345Ser	missense variant	-	NC_000004.12:g.54267653C>T	NCI-TCGA
rs78608730	p.Arg346Met	missense variant	-	NC_000004.12:g.54267657G>T	ExAC,gnomAD
rs78608730	p.Arg346Thr	missense variant	-	NC_000004.12:g.54267657G>C	ExAC,gnomAD
rs1230076983	p.Arg346Gly	missense variant	-	NC_000004.12:g.54267656A>G	TOPMed,gnomAD
COSM35395	p.Trp349Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54267667G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu350Met	missense variant	-	NC_000004.12:g.54267668C>A	NCI-TCGA
RCV000121799	p.Asn353His	missense variant	-	NC_000004.12:g.54267677A>C	ClinVar
rs139103850	p.Asn353Tyr	missense variant	-	NC_000004.12:g.54267677A>T	ESP,ExAC,TOPMed,gnomAD
rs139103850	p.Asn353His	missense variant	-	NC_000004.12:g.54267677A>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr355Ile	missense variant	-	NC_000004.12:g.54267684C>T	NCI-TCGA
NCI-TCGA novel	p.Leu356Arg	missense variant	-	NC_000004.12:g.54267687T>G	NCI-TCGA
rs1553903357	p.Ile357Thr	missense variant	-	NC_000004.12:g.54267690T>C	-
RCV000542165	p.Ile357Thr	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267690T>C	ClinVar
NCI-TCGA novel	p.Thr361Ser	missense variant	-	NC_000004.12:g.54267702C>G	NCI-TCGA
NCI-TCGA novel	p.Glu362Ala	missense variant	-	NC_000004.12:g.54267705A>C	NCI-TCGA
rs750157633	p.Ile363Leu	missense variant	-	NC_000004.12:g.54267707A>C	ExAC,gnomAD
rs1303150389	p.Thr365Ile	missense variant	-	NC_000004.12:g.54267714C>T	TOPMed
RCV000034713	p.Val367Met	missense variant	-	NC_000004.12:g.54267719G>A	ClinVar
RCV000229189	p.Val367Met	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267719G>A	ClinVar
rs147982027	p.Val367Met	missense variant	-	NC_000004.12:g.54267719G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000459793	p.Glu368Gly	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267723A>G	ClinVar
rs1060501521	p.Glu368Gly	missense variant	-	NC_000004.12:g.54267723A>G	-
rs1357067277	p.Glu368Gln	missense variant	-	NC_000004.12:g.54267722G>C	TOPMed
RCV000539089	p.Ile370Val	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267728A>G	ClinVar
rs1553903361	p.Ile370Val	missense variant	-	NC_000004.12:g.54267728A>G	-
NCI-TCGA novel	p.Gln371Pro	missense variant	-	NC_000004.12:g.54267732A>C	NCI-TCGA
rs1419727467	p.Gln371Glu	missense variant	-	NC_000004.12:g.54267731C>G	gnomAD
COSM2152662	p.Glu372Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54267734G>A	NCI-TCGA Cosmic
RCV000121801	p.Arg374Ser	missense variant	-	NC_000004.12:g.54270633G>C	ClinVar
rs61735622	p.Arg374Ser	missense variant	-	NC_000004.12:g.54270633G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg376Ter	stop gained	-	NC_000004.12:g.54270637C>T	NCI-TCGA
RCV000476232	p.Arg376Gln	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54270638G>A	ClinVar
rs41279521	p.Arg376Gln	missense variant	-	NC_000004.12:g.54270638G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1553903724	p.Ser377Gly	missense variant	-	NC_000004.12:g.54270640A>G	-
RCV000556225	p.Ser377Gly	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54270640A>G	ClinVar
RCV000206492	p.Lys378Ile	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54270644A>T	ClinVar
rs200113704	p.Lys378Ile	missense variant	-	NC_000004.12:g.54270644A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200113704	p.Lys378Thr	missense variant	-	NC_000004.12:g.54270644A>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000515443	p.Leu379Val	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54270646T>G	ClinVar
RCV000203175	p.Leu379Val	missense variant	-	NC_000004.12:g.54270646T>G	ClinVar
rs199827643	p.Leu379Val	missense variant	-	NC_000004.12:g.54270646T>G	ESP,ExAC,TOPMed,gnomAD
rs1369890012	p.Ile382Thr	missense variant	-	NC_000004.12:g.54270656T>C	TOPMed
rs1368411882	p.Arg383His	missense variant	-	NC_000004.12:g.54270659G>A	gnomAD
rs1324781921	p.Arg383Cys	missense variant	-	NC_000004.12:g.54270658C>T	gnomAD
RCV000694110	p.Arg383His	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54270659G>A	ClinVar
NCI-TCGA novel	p.Lys385Asn	missense variant	-	NC_000004.12:g.54270666G>T	NCI-TCGA
rs930852806	p.Glu387Gly	missense variant	-	NC_000004.12:g.54270671A>G	gnomAD
NCI-TCGA novel	p.Glu387Lys	missense variant	-	NC_000004.12:g.54270670G>A	NCI-TCGA
rs757529905	p.Glu387Gln	missense variant	-	NC_000004.12:g.54270670G>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp388His	missense variant	-	NC_000004.12:g.54270673G>C	NCI-TCGA
rs1227372630	p.Asp388Asn	missense variant	-	NC_000004.12:g.54270673G>A	TOPMed,gnomAD
COSM734180	p.Asp388Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54270675C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser389Asn	missense variant	-	NC_000004.12:g.54270677G>A	NCI-TCGA
NCI-TCGA novel	p.Gly390Asp	missense variant	-	NC_000004.12:g.54270680G>A	NCI-TCGA
NCI-TCGA novel	p.Gly390Ser	missense variant	-	NC_000004.12:g.54270679G>A	NCI-TCGA
RCV000633745	p.His391Tyr	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54270682C>T	ClinVar
RCV000551922	p.His391Gln	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54270684T>G	ClinVar
rs1553903746	p.His391Gln	missense variant	-	NC_000004.12:g.54270684T>G	-
rs781579645	p.His391Tyr	missense variant	-	NC_000004.12:g.54270682C>T	ExAC,gnomAD
rs746100370	p.Tyr392Phe	missense variant	-	NC_000004.12:g.54270686A>T	ExAC,gnomAD
RCV000633769	p.Val395Leu	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54270694G>T	ClinVar
rs1252610121	p.Val395Ala	missense variant	-	NC_000004.12:g.54270695T>C	gnomAD
rs1354659434	p.Val395Leu	missense variant	-	NC_000004.12:g.54270694G>T	TOPMed
NCI-TCGA novel	p.Ala396LeuPheSerTerUnk	frameshift	-	NC_000004.12:g.54270695_54270696insACTCTTCAATTTA	NCI-TCGA
NCI-TCGA novel	p.Ala396Thr	missense variant	-	NC_000004.12:g.54270697G>A	NCI-TCGA
NCI-TCGA novel	p.Ala396ValPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.54270697_54270698insTTTTATTTTTA	NCI-TCGA
rs1327567130	p.Ala396Ser	missense variant	-	NC_000004.12:g.54270697G>T	TOPMed
rs1403199114	p.Ala396Val	missense variant	-	NC_000004.12:g.54270698C>T	gnomAD
RCV000707536	p.Gln397Glu	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54270700C>G	ClinVar
rs1467315284	p.Gln397Glu	missense variant	-	NC_000004.12:g.54270700C>G	gnomAD
NCI-TCGA novel	p.Glu399Lys	missense variant	-	NC_000004.12:g.54270706G>A	NCI-TCGA
RCV000692622	p.Glu399Asp	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54270708A>T	ClinVar
rs1429740752	p.Glu399Asp	missense variant	-	NC_000004.12:g.54270708A>T	TOPMed
NCI-TCGA novel	p.Asp400Tyr	missense variant	-	NC_000004.12:g.54270709G>T	NCI-TCGA
RCV000688693	p.Asp400Gly	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54270710A>G	ClinVar
COSM2155648	p.Asp400Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54270709G>A	NCI-TCGA Cosmic
RCV000466976	p.Ala401Asp	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54270713C>A	ClinVar
rs397514549	p.Ala401Val	missense variant	-	NC_000004.12:g.54270713C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs397514549	p.Ala401Asp	missense variant	-	NC_000004.12:g.54270713C>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser404Cys	missense variant	-	NC_000004.12:g.54270721A>T	NCI-TCGA
rs1553903757	p.Tyr405Cys	missense variant	-	NC_000004.12:g.54270725A>G	-
RCV000633822	p.Tyr405Cys	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54270725A>G	ClinVar
rs772053864	p.Thr406Ile	missense variant	-	NC_000004.12:g.54270728C>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu408Asp	missense variant	-	NC_000004.12:g.54270735A>C	NCI-TCGA
rs1553903767	p.Glu408Val	missense variant	-	NC_000004.12:g.54270734A>T	-
RCV000558048	p.Glu408Val	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54270734A>T	ClinVar
rs1189746481	p.Glu408Gln	missense variant	-	NC_000004.12:g.54270733G>C	TOPMed
rs1420000204	p.Val413Phe	missense variant	-	NC_000004.12:g.54270748G>T	gnomAD
COSM3604501	p.Pro414Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54272396C>T	NCI-TCGA Cosmic
RCV000463519	p.Ser415Pro	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272399T>C	ClinVar
rs1060501514	p.Ser415Pro	missense variant	-	NC_000004.12:g.54272399T>C	gnomAD
NCI-TCGA novel	p.Asp419Glu	missense variant	-	NC_000004.12:g.54272413C>A	NCI-TCGA
rs749421720	p.Asp419Tyr	missense variant	-	NC_000004.12:g.54272411G>T	ExAC,gnomAD
RCV000546581	p.Asp422Asn	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272420G>A	ClinVar
NCI-TCGA novel	p.Asp422GluPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.54272416_54272417insGTCGA	NCI-TCGA
rs1285204456	p.Asp422Gly	missense variant	-	NC_000004.12:g.54272421A>G	gnomAD
rs770847351	p.Asp422Asn	missense variant	-	NC_000004.12:g.54272420G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp423Ala	missense variant	-	NC_000004.12:g.54272424A>C	NCI-TCGA
rs776298880	p.Asp423Asn	missense variant	-	NC_000004.12:g.54272423G>A	ExAC,TOPMed,gnomAD
rs776298880	p.Asp423His	missense variant	-	NC_000004.12:g.54272423G>C	ExAC,TOPMed,gnomAD
RCV000463210	p.His425Arg	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272430A>G	ClinVar
RCV000764537	p.His425Arg	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272430A>G	ClinVar
RCV000558277	p.His425Tyr	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272429C>T	ClinVar
RCV000633841	p.His425Gln	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272431T>G	ClinVar
rs769631321	p.His425Leu	missense variant	-	NC_000004.12:g.54272430A>T	ExAC,TOPMed,gnomAD
rs759374919	p.His425Tyr	missense variant	-	NC_000004.12:g.54272429C>T	ExAC,TOPMed,gnomAD
rs1553904015	p.His425Gln	missense variant	-	NC_000004.12:g.54272431T>G	-
rs769631321	p.His425Arg	missense variant	-	NC_000004.12:g.54272430A>G	ExAC,TOPMed,gnomAD
rs61735621	p.Ser427Leu	missense variant	-	NC_000004.12:g.54272436C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000464440	p.Ser427Leu	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272436C>T	ClinVar
RCV000228913	p.Thr428Ile	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272439C>T	ClinVar
RCV000233937	p.Thr428Ser	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272439C>G	ClinVar
rs762651640	p.Thr428Ile	missense variant	-	NC_000004.12:g.54272439C>T	ExAC,TOPMed,gnomAD
rs878854820	p.Thr428Ala	missense variant	-	NC_000004.12:g.54272438A>G	TOPMed,gnomAD
RCV000230513	p.Thr428Ala	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272438A>G	ClinVar
rs762651640	p.Thr428Ser	missense variant	-	NC_000004.12:g.54272439C>G	ExAC,TOPMed,gnomAD
rs150577828	p.Gly429Arg	missense variant	-	NC_000004.12:g.54272441G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000034714	p.Gly429Arg	missense variant	-	NC_000004.12:g.54272441G>A	ClinVar
rs202072966	p.Gly430Val	missense variant	-	NC_000004.12:g.54272445G>T	1000Genomes,ExAC,gnomAD
rs202072966	p.Gly430Glu	missense variant	-	NC_000004.12:g.54272445G>A	1000Genomes,ExAC,gnomAD
rs1197237938	p.Gly430Arg	missense variant	-	NC_000004.12:g.54272444G>A	TOPMed
COSM72132	p.Gln431Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54272448A>G	NCI-TCGA Cosmic
RCV000534432	p.Thr432Met	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272451C>T	ClinVar
rs750809787	p.Thr432Met	missense variant	-	NC_000004.12:g.54272451C>T	ExAC,TOPMed,gnomAD
rs1377684828	p.Val433Met	missense variant	-	NC_000004.12:g.54272453G>A	gnomAD
COSM6100286	p.Arg434Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54272457G>C	NCI-TCGA Cosmic
rs139920579	p.Thr436Ile	missense variant	-	NC_000004.12:g.54272463C>T	ESP,ExAC,gnomAD
RCV000121803	p.Thr436Ile	missense variant	-	NC_000004.12:g.54272463C>T	ClinVar
rs1553904029	p.Ala437Val	missense variant	-	NC_000004.12:g.54272466C>T	-
RCV000633775	p.Ala437Val	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272466C>T	ClinVar
rs754091886	p.Glu438Gly	missense variant	-	NC_000004.12:g.54272469A>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly439Val	missense variant	-	NC_000004.12:g.54272472G>T	NCI-TCGA
rs1038766927	p.Thr440Ala	missense variant	-	NC_000004.12:g.54272474A>G	TOPMed,gnomAD
rs1038766927	p.Thr440Ser	missense variant	-	NC_000004.12:g.54272474A>T	TOPMed,gnomAD
rs143344944	p.Thr440Met	missense variant	-	NC_000004.12:g.54272475C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000228500	p.Thr440Met	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272475C>T	ClinVar
NCI-TCGA novel	p.Pro441Ser	missense variant	-	NC_000004.12:g.54272477C>T	NCI-TCGA
rs1031763557	p.Pro441Leu	missense variant	-	NC_000004.12:g.54272478C>T	gnomAD
RCV000764538	p.Leu442Pro	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272481T>C	ClinVar
RCV000226324	p.Leu442Pro	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272481T>C	ClinVar
RCV000034715	p.Leu442Pro	missense variant	-	NC_000004.12:g.54272481T>C	ClinVar
rs757211711	p.Leu442Phe	missense variant	-	NC_000004.12:g.54272480C>T	ExAC,gnomAD
rs139236922	p.Leu442Pro	missense variant	-	NC_000004.12:g.54272481T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs745702167	p.Asp444His	missense variant	-	NC_000004.12:g.54272486G>C	ExAC,TOPMed,gnomAD
rs745702167	p.Asp444Tyr	missense variant	-	NC_000004.12:g.54272486G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile445Val	missense variant	-	NC_000004.12:g.54272489A>G	NCI-TCGA
RCV000633820	p.Glu446Lys	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272492G>A	ClinVar
rs1441980002	p.Glu446Lys	missense variant	-	NC_000004.12:g.54272492G>A	TOPMed
COSM3409361	p.Trp447Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54272497G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Met448Arg	missense variant	-	NC_000004.12:g.54272499T>G	NCI-TCGA
COSM6167428	p.Met448Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54272500G>T	NCI-TCGA Cosmic
rs769740571	p.Met448Ile	missense variant	-	NC_000004.12:g.54272500G>C	ExAC,gnomAD
RCV000462581	p.Ile449Met	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272503A>G	ClinVar
COSM4125131	p.Ile449Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54272501A>G	NCI-TCGA Cosmic
rs775373016	p.Ile449Met	missense variant	-	NC_000004.12:g.54272503A>G	ExAC,TOPMed,gnomAD
rs748958360	p.Lys451Asn	missense variant	-	NC_000004.12:g.54272509A>C	ExAC,gnomAD
RCV000633734	p.Lys451Arg	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272508A>G	ClinVar
rs1178568199	p.Lys451Arg	missense variant	-	NC_000004.12:g.54272508A>G	TOPMed
rs1178568199	p.Lys451Thr	missense variant	-	NC_000004.12:g.54272508A>C	TOPMed
RCV000695443	p.Asp452Tyr	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272510G>T	ClinVar
rs1204540280	p.Asp452Tyr	missense variant	-	NC_000004.12:g.54272510G>T	TOPMed,gnomAD
RCV000475784	p.Ile453Val	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272513A>G	ClinVar
rs587778603	p.Ile453Phe	missense variant	-	NC_000004.12:g.54272513A>T	-
rs587778603	p.Ile453Val	missense variant	-	NC_000004.12:g.54272513A>G	-
RCV000121802	p.Ile453Phe	missense variant	-	NC_000004.12:g.54272513A>T	ClinVar
RCV000633801	p.Lys455Arg	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272520A>G	ClinVar
rs1553904049	p.Lys455Arg	missense variant	-	NC_000004.12:g.54272520A>G	-
RCV000633724	p.Cys456Tyr	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273539G>A	ClinVar
rs761185076	p.Cys456Tyr	missense variant	-	NC_000004.12:g.54273539G>A	ExAC,gnomAD
rs761185076	p.Cys456Phe	missense variant	-	NC_000004.12:g.54273539G>T	ExAC,gnomAD
rs1294435524	p.Asn457Tyr	missense variant	-	NC_000004.12:g.54273541A>T	gnomAD
rs777051666	p.Asn458Ser	missense variant	-	NC_000004.12:g.54273545A>G	ExAC,TOPMed,gnomAD
rs777051666	p.Asn458Ile	missense variant	-	NC_000004.12:g.54273545A>T	ExAC,TOPMed,gnomAD
rs267600186	p.Glu459Lys	missense variant	-	NC_000004.12:g.54273547G>A	-
rs1213594792	p.Thr460Ile	missense variant	-	NC_000004.12:g.54273551C>T	TOPMed
RCV000229738	p.Thr463Ser	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273560C>G	ClinVar
rs375047532	p.Thr463Ser	missense variant	-	NC_000004.12:g.54273560C>G	ESP,ExAC,TOPMed,gnomAD
rs759885036	p.Thr463Ala	missense variant	-	NC_000004.12:g.54273559A>G	ExAC,gnomAD
RCV000231459	p.Asn467Lys	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273573C>A	ClinVar
rs878854821	p.Asn467Lys	missense variant	-	NC_000004.12:g.54273573C>A	-
rs1207731107	p.Asn468Lys	missense variant	-	NC_000004.12:g.54273576T>A	gnomAD
rs1207731107	p.Asn468Lys	missense variant	-	NC_000004.12:g.54273576T>G	gnomAD
NCI-TCGA novel	p.Asn468Asp	missense variant	-	NC_000004.12:g.54273574A>G	NCI-TCGA
COSM2155032	p.Asn468Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54273575A>G	NCI-TCGA Cosmic
RCV000685055	p.Val469Tyr	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273577_54273578delinsTA	ClinVar
RCV000465785	p.Val469Ile	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273577G>A	ClinVar
rs1060501506	p.Val469Ile	missense variant	-	NC_000004.12:g.54273577G>A	-
COSM3917926	p.Ser470Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54273581C>T	NCI-TCGA Cosmic
RCV000474852	p.Asn471Asp	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273583A>G	ClinVar
RCV000535773	p.Asn471His	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273583A>C	ClinVar
rs758497476	p.Asn471Asp	missense variant	-	NC_000004.12:g.54273583A>G	ExAC,TOPMed,gnomAD
rs758497476	p.Asn471His	missense variant	-	NC_000004.12:g.54273583A>C	ExAC,TOPMed,gnomAD
rs1199380187	p.Asn471Ser	missense variant	-	NC_000004.12:g.54273584A>G	gnomAD
RCV000548403	p.Ile472Ser	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273587T>G	ClinVar
rs1553904177	p.Ile472Val	missense variant	-	NC_000004.12:g.54273586A>G	-
RCV000633742	p.Ile472Val	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273586A>G	ClinVar
rs201223501	p.Ile472Ser	missense variant	-	NC_000004.12:g.54273587T>G	1000Genomes,ExAC,gnomAD
rs587778594	p.Ile473Val	missense variant	-	NC_000004.12:g.54273589A>G	-
RCV000705571	p.Ile473Val	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273589A>G	ClinVar
RCV000633720	p.Thr474Met	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273593C>T	ClinVar
rs751618661	p.Thr474Met	missense variant	-	NC_000004.12:g.54273593C>T	ExAC,TOPMed,gnomAD
RCV000475997	p.Glu475Ala	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273596A>C	ClinVar
RCV000471079	p.Glu475Asp	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273597G>T	ClinVar
rs780125769	p.Glu475Ala	missense variant	-	NC_000004.12:g.54273596A>C	ExAC,TOPMed,gnomAD
rs200309940	p.Glu475Asp	missense variant	-	NC_000004.12:g.54273597G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1329845160	p.Ile476Leu	missense variant	-	NC_000004.12:g.54273598A>C	TOPMed
NCI-TCGA novel	p.His477Tyr	missense variant	-	NC_000004.12:g.54273601C>T	NCI-TCGA
rs1553904188	p.His477Asn	missense variant	-	NC_000004.12:g.54273601C>A	-
RCV000633828	p.His477Asn	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273601C>A	ClinVar
RCV000326887	p.Ser478Pro	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273604T>C	ClinVar
RCV000034716	p.Ser478Pro	missense variant	-	NC_000004.12:g.54273604T>C	ClinVar
RCV000121780	p.Ser478Pro	missense variant	-	NC_000004.12:g.54273604T>C	ClinVar
RCV000381487	p.Ser478Pro	missense variant	Idiopathic hypereosinophilic syndrome (HES)	NC_000004.12:g.54273604T>C	ClinVar
rs35597368	p.Ser478Pro	missense variant	-	NC_000004.12:g.54273604T>C	UniProt,dbSNP
VAR_034378	p.Ser478Pro	missense variant	-	NC_000004.12:g.54273604T>C	UniProt
rs35597368	p.Ser478Pro	missense variant	-	NC_000004.12:g.54273604T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000229276	p.Arg479Gln	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273608G>A	ClinVar
rs777341485	p.Arg479Gln	missense variant	-	NC_000004.12:g.54273608G>A	ExAC,TOPMed,gnomAD
rs771567933	p.Arg479Ter	stop gained	-	NC_000004.12:g.54273607C>T	ExAC,gnomAD
RCV000541402	p.Asp480Asn	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273610G>A	ClinVar
rs144723510	p.Asp480Glu	missense variant	-	NC_000004.12:g.54273612C>G	1000Genomes,ExAC,gnomAD
rs746522772	p.Asp480Asn	missense variant	-	NC_000004.12:g.54273610G>A	ExAC,gnomAD
VAR_066460	p.Arg481Gly	Missense	-	-	UniProt
rs1423737250	p.Ser482Gly	missense variant	-	NC_000004.12:g.54273616A>G	gnomAD
NCI-TCGA novel	p.Thr483Ser	missense variant	-	NC_000004.12:g.54273620C>G	NCI-TCGA
rs149031291	p.Val484Met	missense variant	-	NC_000004.12:g.54273622G>A	ESP,ExAC,TOPMed,gnomAD
RCV000658998	p.Val484Met	missense variant	-	NC_000004.12:g.54273622G>A	ClinVar
RCV000233265	p.Val484Met	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273622G>A	ClinVar
rs1354231704	p.Glu485Lys	missense variant	-	NC_000004.12:g.54273625G>A	gnomAD
rs775656600	p.Gly486Ser	missense variant	-	NC_000004.12:g.54273628G>A	ExAC,gnomAD
RCV000463566	p.Arg487Ser	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273631C>A	ClinVar
RCV000633729	p.Arg487His	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273632G>A	ClinVar
NCI-TCGA novel	p.Arg487Pro	missense variant	-	NC_000004.12:g.54273632G>C	NCI-TCGA
RCV000476217	p.Arg487Cys	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273631C>T	ClinVar
rs763237825	p.Arg487Cys	missense variant	-	NC_000004.12:g.54273631C>T	ExAC,TOPMed,gnomAD
rs763237825	p.Arg487Ser	missense variant	-	NC_000004.12:g.54273631C>A	ExAC,TOPMed,gnomAD
rs764214258	p.Arg487His	missense variant	-	NC_000004.12:g.54273632G>A	ExAC,TOPMed,gnomAD
RCV000633753	p.Thr489Ser	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273638C>G	ClinVar
rs761961392	p.Thr489Ser	missense variant	-	NC_000004.12:g.54273638C>G	ExAC,gnomAD
RCV000331094	p.Ala491Thr	missense variant	Idiopathic hypereosinophilic syndrome (HES)	NC_000004.12:g.54273643G>A	ClinVar
NCI-TCGA novel	p.Ala491Pro	missense variant	-	NC_000004.12:g.54273643G>C	NCI-TCGA
rs563016888	p.Ala491Thr	missense variant	-	NC_000004.12:g.54273643G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000466474	p.Lys492Thr	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273647A>C	ClinVar
NCI-TCGA novel	p.Lys492Asn	missense variant	-	NC_000004.12:g.54273648A>C	NCI-TCGA
rs754824764	p.Lys492Thr	missense variant	-	NC_000004.12:g.54273647A>C	ExAC,TOPMed,gnomAD
rs778784351	p.Thr496Pro	missense variant	-	NC_000004.12:g.54273658A>C	ExAC,TOPMed,gnomAD
rs778784351	p.Thr496Ala	missense variant	-	NC_000004.12:g.54273658A>G	ExAC,TOPMed,gnomAD
RCV000461815	p.Ala498Thr	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273664G>A	ClinVar
rs758137485	p.Ala498Thr	missense variant	-	NC_000004.12:g.54273664G>A	ExAC,TOPMed,gnomAD
rs746574289	p.Val499Met	missense variant	-	NC_000004.12:g.54273667G>A	ExAC,gnomAD
RCV000702515	p.Arg500Gln	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273671G>A	ClinVar
NCI-TCGA novel	p.Arg500Ter	stop gained	-	NC_000004.12:g.54273670C>T	NCI-TCGA
COSM734179	p.Arg500Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54273671G>T	NCI-TCGA Cosmic
rs1308521786	p.Arg500Gln	missense variant	-	NC_000004.12:g.54273671G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Leu502Pro	missense variant	-	NC_000004.12:g.54273677T>C	NCI-TCGA
RCV000699709	p.Ala503Thr	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273679G>A	ClinVar
rs1352983245	p.Lys504Arg	missense variant	-	NC_000004.12:g.54273683A>G	TOPMed
rs746397815	p.Leu506Arg	missense variant	-	NC_000004.12:g.54273689T>G	ExAC,gnomAD
RCV000530691	p.Leu506Arg	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273689T>G	ClinVar
rs142980928	p.Leu506Phe	missense variant	-	NC_000004.12:g.54273688C>T	ESP,ExAC,TOPMed,gnomAD
COSM4125133	p.Leu506Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54273688C>A	NCI-TCGA Cosmic
RCV000701493	p.Leu506Pro	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273689_54273690delinsCT	ClinVar
rs746397815	p.Leu506Pro	missense variant	-	NC_000004.12:g.54273689T>C	ExAC,gnomAD
VAR_066461	p.Leu507Pro	Missense	-	-	UniProt
RCV000473836	p.Gly508Arg	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273694G>A	ClinVar
rs770129304	p.Gly508Arg	missense variant	-	NC_000004.12:g.54273694G>A	ExAC,TOPMed,gnomAD
rs775985327	p.Glu510Ala	missense variant	-	NC_000004.12:g.54273701A>C	ExAC,gnomAD
rs1553904229	p.Asn511Lys	missense variant	-	NC_000004.12:g.54273705C>G	-
RCV000538699	p.Asn511Lys	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273705C>G	ClinVar
rs1174017872	p.Arg512Gln	missense variant	-	NC_000004.12:g.54273707G>A	TOPMed
NCI-TCGA novel	p.Glu513Lys	missense variant	-	NC_000004.12:g.54273709G>A	NCI-TCGA
rs763214177	p.Leu516Met	missense variant	-	NC_000004.12:g.54273718C>A	ExAC,gnomAD
rs1174270318	p.Val517Met	missense variant	-	NC_000004.12:g.54273721G>A	TOPMed
rs372546959	p.Ala518Ser	missense variant	-	NC_000004.12:g.54273724G>T	ESP,ExAC,TOPMed,gnomAD
rs372546959	p.Ala518Thr	missense variant	-	NC_000004.12:g.54273724G>A	ESP,ExAC,TOPMed,gnomAD
COSM4399410	p.Pro519Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54273727C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr520Ala	missense variant	-	NC_000004.12:g.54273730A>G	NCI-TCGA
rs760659222	p.Thr520Ile	missense variant	-	NC_000004.12:g.54274531C>T	ExAC,gnomAD
RCV000633727	p.Arg522His	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274537G>A	ClinVar
rs765271720	p.Arg522His	missense variant	-	NC_000004.12:g.54274537G>A	ExAC,TOPMed,gnomAD
rs974033003	p.Arg522Cys	missense variant	-	NC_000004.12:g.54274536C>T	TOPMed
RCV000543488	p.Ser523Thr	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274539T>A	ClinVar
rs147733970	p.Ser523Thr	missense variant	-	NC_000004.12:g.54274539T>A	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Leu525Ile	missense variant	-	NC_000004.12:g.54274545C>A	NCI-TCGA
RCV000633748	p.Thr526Ter	frameshift	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274548dup	ClinVar
rs904415979	p.Thr526Met	missense variant	-	NC_000004.12:g.54274549C>T	TOPMed,gnomAD
RCV000633780	p.Val527Ala	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274552T>C	ClinVar
COSM6167426	p.Val527Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54274551G>T	NCI-TCGA Cosmic
COSM1056061	p.Val527Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54274551G>A	NCI-TCGA Cosmic
rs1294452177	p.Val527Ala	missense variant	-	NC_000004.12:g.54274552T>C	TOPMed,gnomAD
RCV000633725	p.Ala528Thr	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274554G>A	ClinVar
rs763901708	p.Ala528Thr	missense variant	-	NC_000004.12:g.54274554G>A	ExAC,gnomAD
rs751285566	p.Ala529Val	missense variant	-	NC_000004.12:g.54274558C>T	ExAC,gnomAD
rs767138955	p.Leu534Gln	missense variant	-	NC_000004.12:g.54274573T>A	ExAC,gnomAD
RCV000467949	p.Leu535Phe	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274577G>T	ClinVar
rs779575357	p.Leu535Phe	missense variant	-	NC_000004.12:g.54274577G>T	ExAC,TOPMed,gnomAD
rs1265135270	p.Val536Met	missense variant	-	NC_000004.12:g.54274578G>A	gnomAD
RCV000633722	p.Ile539Val	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274587A>G	ClinVar
rs866516451	p.Ile539Val	missense variant	-	NC_000004.12:g.54274587A>G	TOPMed,gnomAD
rs1553904366	p.Ile539Thr	missense variant	-	NC_000004.12:g.54274588T>C	-
RCV000531966	p.Ile539Thr	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274588T>C	ClinVar
NCI-TCGA novel	p.Leu542Arg	missense variant	-	NC_000004.12:g.54274597T>G	NCI-TCGA
RCV000469268	p.Leu542Phe	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274596C>T	ClinVar
rs1060501522	p.Leu542Phe	missense variant	-	NC_000004.12:g.54274596C>T	gnomAD
RCV000544589	p.Ile543Thr	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274600T>C	ClinVar
rs755486487	p.Ile543Thr	missense variant	-	NC_000004.12:g.54274600T>C	ExAC,TOPMed,gnomAD
RCV000633835	p.Val544Gly	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274603_54274604delinsGT	ClinVar
NCI-TCGA novel	p.Val544Ile	missense variant	-	NC_000004.12:g.54274602G>A	NCI-TCGA
rs1553904374	p.Val544Gly	missense variant	-	NC_000004.12:g.54274603_54274604delinsGT	-
RCV000232812	p.Val544Ala	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274603T>C	ClinVar
rs181854060	p.Val544Ala	missense variant	-	NC_000004.12:g.54274603T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs181854060	p.Val544Gly	missense variant	-	NC_000004.12:g.54274603T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1233146093	p.Val546Leu	missense variant	-	NC_000004.12:g.54274608G>C	TOPMed
rs139219072	p.Val547Phe	missense variant	-	NC_000004.12:g.54274611G>T	ESP,ExAC,TOPMed
RCV000557487	p.Ile548Val	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274614A>G	ClinVar
rs1060501500	p.Ile548Phe	missense variant	-	NC_000004.12:g.54274614A>T	gnomAD
RCV000475283	p.Ile548Phe	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274614A>T	ClinVar
rs1060501500	p.Ile548Val	missense variant	-	NC_000004.12:g.54274614A>G	gnomAD
rs747156883	p.Trp549Ter	stop gained	-	NC_000004.12:g.54274619G>A	ExAC,gnomAD
RCV000764539	p.Gln551Lys	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274623C>A	ClinVar
RCV000466521	p.Gln551Lys	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274623C>A	ClinVar
RCV000537928	p.Gln551Glu	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274623C>G	ClinVar
rs770950644	p.Gln551Glu	missense variant	-	NC_000004.12:g.54274623C>G	ExAC,gnomAD
rs770950644	p.Gln551Lys	missense variant	-	NC_000004.12:g.54274623C>A	ExAC,gnomAD
rs1060501502	p.Pro553Leu	missense variant	-	NC_000004.12:g.54274845C>T	-
RCV000456218	p.Pro553Leu	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274845C>T	ClinVar
rs992063980	p.Pro553Ser	missense variant	-	NC_000004.12:g.54274844C>T	TOPMed
rs761698258	p.Arg554Lys	missense variant	-	NC_000004.12:g.54274848G>A	ExAC,gnomAD
rs761698258	p.Arg554Met	missense variant	-	NC_000004.12:g.54274848G>T	ExAC,gnomAD
RCV000231170	p.Tyr555His	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274850T>C	ClinVar
RCV000014511	p.Tyr555Cys	missense variant	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal (GISTPS)	NC_000004.12:g.54274851A>G	ClinVar
rs121908589	p.Tyr555Cys	missense variant	-	NC_000004.12:g.54274851A>G	-
rs878854823	p.Tyr555His	missense variant	-	NC_000004.12:g.54274850T>C	-
RCV000633723	p.Glu556Asp	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274855A>T	ClinVar
rs1553904439	p.Glu556Asp	missense variant	-	NC_000004.12:g.54274855A>T	-
COSM27072	p.Glu556Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54274853G>A	NCI-TCGA Cosmic
RCV000234041	p.Arg558His	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274860G>A	ClinVar
rs761924292	p.Arg558His	missense variant	-	NC_000004.12:g.54274860G>A	ExAC,TOPMed,gnomAD
rs765680542	p.Arg558Cys	missense variant	-	NC_000004.12:g.54274859C>T	-
RCV000437945	p.Val561Ala	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274869T>C	ClinVar
RCV000787298	p.Val561Asp	missense variant	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal (GISTPS)	NC_000004.12:g.54274869T>A	ClinVar
RCV000014504	p.Val561Asp	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274869T>A	ClinVar
RCV000014506	p.Val561GluArg	insertion	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274868_54274869insAGAGGG	ClinVar
rs121908586	p.Val561Asp	missense variant	-	NC_000004.12:g.54274869T>A	UniProt,dbSNP
VAR_066462	p.Val561Asp	missense variant	-	NC_000004.12:g.54274869T>A	UniProt
rs121908586	p.Val561Asp	missense variant	-	NC_000004.12:g.54274869T>A	-
VAR_066463	p.Ile562Met	Missense	-	-	UniProt
RCV000458061	p.Glu563Gln	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274874G>C	ClinVar
rs753347712	p.Glu563Asp	missense variant	-	NC_000004.12:g.54274876A>C	ExAC,TOPMed,gnomAD
rs1060501510	p.Glu563Gln	missense variant	-	NC_000004.12:g.54274874G>C	-
RCV000687737	p.Ile565Val	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274880A>G	ClinVar
rs1178831870	p.Ile565Val	missense variant	-	NC_000004.12:g.54274880A>G	TOPMed,gnomAD
RCV000688905	p.Ser566Ile	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274884G>T	ClinVar
rs201503614	p.Pro567Gln	missense variant	-	NC_000004.12:g.54274887C>A	ExAC,TOPMed,gnomAD
RCV000459085	p.Pro567Arg	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274887_54274888delinsGG	ClinVar
RCV000034717	p.Pro567Leu	missense variant	-	NC_000004.12:g.54274887C>T	ClinVar
rs201503614	p.Pro567Leu	missense variant	-	NC_000004.12:g.54274887C>T	ExAC,TOPMed,gnomAD
COSM1430083	p.His570Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54274895C>T	NCI-TCGA Cosmic
VAR_066464	p.His570Arg	Missense	-	-	UniProt
COSM447944	p.Glu571Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54274898G>A	NCI-TCGA Cosmic
COSM1430084	p.Tyr572Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54274902A>G	NCI-TCGA Cosmic
rs924618799	p.Tyr574Phe	missense variant	-	NC_000004.12:g.54274908A>T	TOPMed
rs935967127	p.Val575Leu	missense variant	-	NC_000004.12:g.54274910G>C	TOPMed
rs1215710338	p.Asp576Ala	missense variant	-	NC_000004.12:g.54274914A>C	TOPMed,gnomAD
rs778015444	p.Pro577Leu	missense variant	-	NC_000004.12:g.54274917C>T	ExAC,TOPMed,gnomAD
RCV000423704	p.Pro577Ser	missense variant	Cutaneous melanoma	NC_000004.12:g.54274916C>T	ClinVar
rs1057519811	p.Pro577Ser	missense variant	-	NC_000004.12:g.54274916C>T	-
rs143003840	p.Leu580Met	missense variant	-	NC_000004.12:g.54274925C>A	-
rs1435627268	p.Pro581Ser	missense variant	-	NC_000004.12:g.54274928C>T	TOPMed,gnomAD
rs745983139	p.Asp583Asn	missense variant	-	NC_000004.12:g.54274934G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser584Ter	stop gained	-	NC_000004.12:g.54274938C>A	NCI-TCGA
NCI-TCGA novel	p.Ser584Ter	stop gained	-	NC_000004.12:g.54274938C>G	NCI-TCGA
RCV000475013	p.Arg585Ile	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274941G>T	ClinVar
rs1060501505	p.Arg585Ile	missense variant	-	NC_000004.12:g.54274941G>T	-
rs1444218873	p.Gly592Glu	missense variant	-	NC_000004.12:g.54274962G>A	gnomAD
COSM734176	p.Leu593Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54274964C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu595Phe	missense variant	-	NC_000004.12:g.54274970C>T	NCI-TCGA
RCV000528246	p.Arg597Trp	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54277390C>T	ClinVar
rs999173790	p.Arg597Gln	missense variant	-	NC_000004.12:g.54277391G>A	TOPMed,gnomAD
rs1349318035	p.Arg597Trp	missense variant	-	NC_000004.12:g.54277390C>T	TOPMed
rs757608100	p.Val598Ala	missense variant	-	NC_000004.12:g.54277394T>C	ExAC,gnomAD
RCV000540823	p.Ala603Val	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54277409C>T	ClinVar
rs1553904813	p.Ala603Val	missense variant	-	NC_000004.12:g.54277409C>T	-
RCV000696864	p.Val608Ala	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54277424T>C	ClinVar
RCV000457211	p.Val608Ile	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54277423G>A	ClinVar
rs138740193	p.Val608Ile	missense variant	-	NC_000004.12:g.54277423G>A	ESP,ExAC,TOPMed,gnomAD
rs1406857066	p.Thr611Ile	missense variant	-	NC_000004.12:g.54277433C>T	TOPMed,gnomAD
RCV000528725	p.Thr611Arg	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54277433C>G	ClinVar
rs1406857066	p.Thr611Arg	missense variant	-	NC_000004.12:g.54277433C>G	TOPMed,gnomAD
rs1290211365	p.Ala612Thr	missense variant	-	NC_000004.12:g.54277435G>A	gnomAD
rs1320506684	p.Gly614Arg	missense variant	-	NC_000004.12:g.54277441G>A	TOPMed
rs1452541160	p.Gly614Ala	missense variant	-	NC_000004.12:g.54277442G>C	gnomAD
rs1382903773	p.Leu615Ile	missense variant	-	NC_000004.12:g.54277444T>A	TOPMed
RCV000457492	p.Ser616Arg	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54277449C>G	ClinVar
rs780111998	p.Ser616Arg	missense variant	-	NC_000004.12:g.54277449C>G	ExAC,gnomAD
RCV000228510	p.Arg617Trp	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54277450C>T	ClinVar
RCV000553651	p.Arg617Gln	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54277451G>A	ClinVar
rs377318745	p.Arg617Pro	missense variant	-	NC_000004.12:g.54277451G>C	ESP,TOPMed,gnomAD
rs377318745	p.Arg617Gln	missense variant	-	NC_000004.12:g.54277451G>A	ESP,TOPMed,gnomAD
rs878854825	p.Arg617Gly	missense variant	-	NC_000004.12:g.54277450C>G	gnomAD
rs878854825	p.Arg617Trp	missense variant	-	NC_000004.12:g.54277450C>T	gnomAD
RCV000530086	p.Gln619Arg	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54277457A>G	ClinVar
rs1553904833	p.Gln619Arg	missense variant	-	NC_000004.12:g.54277457A>G	-
rs749366763	p.Pro620Ser	missense variant	-	NC_000004.12:g.54277459C>T	ExAC,gnomAD
RCV000633761	p.Met622Leu	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54277465A>T	ClinVar
rs774507815	p.Met622Leu	missense variant	-	NC_000004.12:g.54277465A>T	gnomAD
COSM1056065	p.Val626Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54277478T>C	NCI-TCGA Cosmic
COSM1056063	p.Val626Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54277477G>A	NCI-TCGA Cosmic
COSM4853571	p.Lys627Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54277482G>C	NCI-TCGA Cosmic
COSM1056067	p.Lys630Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54277490A>C	NCI-TCGA Cosmic
RCV000231363	p.Pro631Ser	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54277492C>T	ClinVar
RCV000405809	p.Pro631Ser	missense variant	Idiopathic hypereosinophilic syndrome (HES)	NC_000004.12:g.54277492C>T	ClinVar
rs199902153	p.Pro631Ser	missense variant	-	NC_000004.12:g.54277492C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000555045	p.Thr632Met	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54277899C>T	ClinVar
rs572964298	p.Thr632Met	missense variant	-	NC_000004.12:g.54277899C>T	ExAC,gnomAD
rs778818973	p.Arg634Ser	missense variant	-	NC_000004.12:g.54277906A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln639Arg	missense variant	-	NC_000004.12:g.54277920A>G	NCI-TCGA
rs1397203869	p.Ala640Ser	missense variant	-	NC_000004.12:g.54277922G>T	gnomAD
RCV000560051	p.Met642Ile	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54277930G>A	ClinVar
rs1553904882	p.Met642Ile	missense variant	-	NC_000004.12:g.54277930G>A	-
rs746991341	p.Thr649Ser	missense variant	-	NC_000004.12:g.54277949A>T	ExAC,gnomAD
VAR_066465	p.His650Gln	Missense	-	-	UniProt
rs745658205	p.His654Gln	missense variant	-	NC_000004.12:g.54277966T>A	ExAC,TOPMed,gnomAD
rs377159519	p.His654Asn	missense variant	-	NC_000004.12:g.54277964C>A	ESP,ExAC,TOPMed,gnomAD
COSM3409362	p.Leu655Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54277969G>C	NCI-TCGA Cosmic
rs1279735973	p.Leu655Val	missense variant	-	NC_000004.12:g.54277967T>G	TOPMed
rs969139366	p.Ile657Thr	missense variant	-	NC_000004.12:g.54277974T>C	TOPMed,gnomAD
RCV000434301	p.Val658Ala	missense variant	Cutaneous melanoma	NC_000004.12:g.54277977T>C	ClinVar
rs1057519812	p.Val658Ala	missense variant	-	NC_000004.12:g.54277977T>C	-
RCV000429785	p.Asn659Lys	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54277981C>G	ClinVar
RCV000419062	p.Asn659Lys	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54277981C>A	ClinVar
rs1057519700	p.Asn659Lys	missense variant	-	NC_000004.12:g.54277981C>G	-
rs1057519700	p.Asn659Lys	missense variant	-	NC_000004.12:g.54277981C>A	-
VAR_066467	p.Asn659Ser	Missense	-	-	UniProt
rs779818520	p.Leu660Phe	missense variant	-	NC_000004.12:g.54277984G>T	ExAC
COSM3604507	p.Gly662Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54277988G>A	NCI-TCGA Cosmic
rs768124156	p.Pro669Ser	missense variant	-	NC_000004.12:g.54278364C>T	ExAC
RCV000633749	p.Ile670Val	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54278367A>G	ClinVar
rs1553904985	p.Ile670Val	missense variant	-	NC_000004.12:g.54278367A>G	-
NCI-TCGA novel	p.Thr674Pro	missense variant	-	NC_000004.12:g.54278379A>C	NCI-TCGA
RCV000014509	p.Thr674Ile	missense variant	Hypereosinophilic syndrome, idiopathic, resistant to imatinib	NC_000004.12:g.54278380C>T	ClinVar
rs121908587	p.Thr674Ile	missense variant	-	NC_000004.12:g.54278380C>T	-
COSM1310132	p.Glu675Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54278382G>C	NCI-TCGA Cosmic
rs778551529	p.Glu675Asp	missense variant	-	NC_000004.12:g.54278384G>C	ExAC,TOPMed,gnomAD
rs747598419	p.Tyr676His	missense variant	-	NC_000004.12:g.54278385T>C	ExAC,gnomAD
NCI-TCGA novel	p.Cys677Tyr	missense variant	-	NC_000004.12:g.54278389G>A	NCI-TCGA
COSM257700	p.Phe678Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54278393C>A	NCI-TCGA Cosmic
rs772617321	p.Tyr679Cys	missense variant	-	NC_000004.12:g.54278395A>G	ExAC,TOPMed,gnomAD
rs1312160226	p.Tyr679His	missense variant	-	NC_000004.12:g.54278394T>C	TOPMed
NCI-TCGA novel	p.Gly680Glu	missense variant	-	NC_000004.12:g.54278398G>A	NCI-TCGA
COSM3428551	p.Asp681Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54278400G>T	NCI-TCGA Cosmic
COSM1056069	p.Asp681Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54278400G>A	NCI-TCGA Cosmic
rs761133809	p.Val683Ala	missense variant	-	NC_000004.12:g.54278407T>C	ExAC,gnomAD
rs1377060380	p.Asn684Lys	missense variant	-	NC_000004.12:g.54278411C>G	gnomAD
rs1284453963	p.Asn689Tyr	missense variant	-	NC_000004.12:g.54278424A>T	gnomAD
rs1344375373	p.Arg690Met	missense variant	-	NC_000004.12:g.54278428G>T	TOPMed,gnomAD
COSM3917928	p.Asp691Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54278430G>A	NCI-TCGA Cosmic
RCV000474034	p.Ser692Asn	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54278434G>A	ClinVar
rs371065167	p.Ser692Asn	missense variant	-	NC_000004.12:g.54278434G>A	ESP,ExAC,TOPMed,gnomAD
rs1377466927	p.Phe693Tyr	missense variant	-	NC_000004.12:g.54278437T>A	TOPMed
rs1400502000	p.Ser695Asn	missense variant	-	NC_000004.12:g.54278443G>A	gnomAD
RCV000694448	p.His696Tyr	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54278445C>T	ClinVar
rs765377444	p.His696Gln	missense variant	-	NC_000004.12:g.54278447C>G	ExAC,TOPMed,gnomAD
rs1262195275	p.Lys702Glu	missense variant	-	NC_000004.12:g.54278463A>G	gnomAD
COSM3604508	p.Lys702Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54278464A>T	NCI-TCGA Cosmic
rs1388944809	p.Lys702Arg	missense variant	-	NC_000004.12:g.54278464A>G	gnomAD
NCI-TCGA novel	p.Glu704Ter	stop gained	-	NC_000004.12:g.54278469G>T	NCI-TCGA
rs752884270	p.Glu704Asp	missense variant	-	NC_000004.12:g.54278471G>T	ExAC,gnomAD
rs763091995	p.Leu705Val	missense variant	-	NC_000004.12:g.54278472C>G	ExAC,gnomAD
VAR_066468	p.Leu705Pro	Missense	-	-	UniProt
rs764225560	p.Asp706Gly	missense variant	-	NC_000004.12:g.54278476A>G	ExAC,gnomAD
rs1221698264	p.Asp706Asn	missense variant	-	NC_000004.12:g.54278475G>A	gnomAD
rs1318827602	p.Ile707Val	missense variant	-	NC_000004.12:g.54278478A>G	TOPMed,gnomAD
RCV000549924	p.Phe708Ser	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54278482T>C	ClinVar
rs781356492	p.Phe708Ser	missense variant	-	NC_000004.12:g.54278482T>C	ExAC,TOPMed,gnomAD
RCV000472227	p.Asn711Asp	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54278490A>G	ClinVar
RCV000526062	p.Asn711Ser	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54278491A>G	ClinVar
rs1553905039	p.Asn711Ser	missense variant	-	NC_000004.12:g.54278491A>G	-
rs756055115	p.Asn711Asp	missense variant	-	NC_000004.12:g.54278490A>G	ExAC,gnomAD
rs779902846	p.Pro712Thr	missense variant	-	NC_000004.12:g.54278493C>A	ExAC,TOPMed,gnomAD
rs779902846	p.Pro712Ala	missense variant	-	NC_000004.12:g.54278493C>G	ExAC,TOPMed,gnomAD
rs1191626640	p.Ala713Thr	missense variant	-	NC_000004.12:g.54278496G>A	gnomAD
RCV000697609	p.Asp714Val	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54278500A>T	ClinVar
RCV000633752	p.Ser716Arg	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54278505A>C	ClinVar
rs778408083	p.Ser716Arg	missense variant	-	NC_000004.12:g.54278507C>A	ExAC,TOPMed
rs754717420	p.Ser716Asn	missense variant	-	NC_000004.12:g.54278506G>A	ExAC,gnomAD
RCV000633747	p.Ser716Arg	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54278507C>A	ClinVar
rs1553905049	p.Ser716Arg	missense variant	-	NC_000004.12:g.54278505A>C	-
RCV000537781	p.Thr717Ile	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54278509C>T	ClinVar
rs1553905051	p.Thr717Ile	missense variant	-	NC_000004.12:g.54278509C>T	-
RCV000550425	p.Arg718Trp	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54278511C>T	ClinVar
rs375434317	p.Arg718Trp	missense variant	-	NC_000004.12:g.54278511C>T	ESP,ExAC,TOPMed,gnomAD
RCV000461680	p.Arg718Gln	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54278512G>A	ClinVar
rs367722824	p.Arg718Gln	missense variant	-	NC_000004.12:g.54278512G>A	ESP,ExAC,TOPMed,gnomAD
rs1352839721	p.Tyr720Ser	missense variant	-	NC_000004.12:g.54280318A>C	gnomAD
RCV000556276	p.Ile722Phe	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54280323A>T	ClinVar
rs1553905278	p.Ile722Phe	missense variant	-	NC_000004.12:g.54280323A>T	-
RCV000633728	p.Glu726Gln	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54280335G>C	ClinVar
rs1553905281	p.Glu726Gln	missense variant	-	NC_000004.12:g.54280335G>C	-
COSM4125136	p.Gly729Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54280345G>T	NCI-TCGA Cosmic
rs1458825658	p.Gly729Asp	missense variant	-	NC_000004.12:g.54280345G>A	gnomAD
RCV000527659	p.Met732Val	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54280353A>G	ClinVar
rs749523527	p.Met732Val	missense variant	-	NC_000004.12:g.54280353A>G	ExAC,gnomAD
rs768993267	p.Met732Thr	missense variant	-	NC_000004.12:g.54280354T>C	ExAC,gnomAD
rs774628734	p.Met734Thr	missense variant	-	NC_000004.12:g.54280360T>C	ExAC,gnomAD
rs1370672831	p.Asp738Tyr	missense variant	-	NC_000004.12:g.54280371G>T	TOPMed
rs766379425	p.Thr739Ala	missense variant	-	NC_000004.12:g.54280374A>G	ExAC,gnomAD
rs1175465507	p.Thr739Ile	missense variant	-	NC_000004.12:g.54280375C>T	gnomAD
NCI-TCGA novel	p.Thr740Ala	missense variant	-	NC_000004.12:g.54280377A>G	NCI-TCGA
rs141704268	p.Gln741Arg	missense variant	-	NC_000004.12:g.54280381A>G	ESP,ExAC
COSM4125137	p.Val743Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54280387T>C	NCI-TCGA Cosmic
rs764957750	p.Val743Ile	missense variant	-	NC_000004.12:g.54280386G>A	ExAC,TOPMed,gnomAD
RCV000229967	p.Pro744Ser	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54280389C>T	ClinVar
rs61735626	p.Pro744Ser	missense variant	-	NC_000004.12:g.54280389C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1368223217	p.Met745Thr	missense variant	-	NC_000004.12:g.54280393T>C	gnomAD
rs763727620	p.Met745Ile	missense variant	-	NC_000004.12:g.54280394G>T	ExAC,gnomAD
COSM3604509	p.Arg748Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54280402G>A	NCI-TCGA Cosmic
VAR_066469	p.Arg748Gly	Missense	-	-	UniProt
rs1260734299	p.Lys749Gln	missense variant	-	NC_000004.12:g.54280404A>C	gnomAD
rs751123873	p.Glu750Asp	missense variant	-	NC_000004.12:g.54280409G>T	ExAC,gnomAD
RCV000633829	p.Ser752Phe	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54280414C>T	ClinVar
rs1553905300	p.Ser752Phe	missense variant	-	NC_000004.12:g.54280414C>T	-
rs536663502	p.Tyr754His	missense variant	-	NC_000004.12:g.54280419T>C	1000Genomes,ExAC,gnomAD
RCV000468730	p.Tyr754His	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54280419T>C	ClinVar
rs139465754	p.Ser755Phe	missense variant	-	NC_000004.12:g.54280423C>T	ESP,ExAC,TOPMed
rs780701113	p.Ser755Pro	missense variant	-	NC_000004.12:g.54280422T>C	ExAC,gnomAD
RCV000314872	p.Asp756Asn	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54280425G>A	ClinVar
rs555347387	p.Asp756Asn	missense variant	-	NC_000004.12:g.54280425G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs769048345	p.Ile757Phe	missense variant	-	NC_000004.12:g.54280428A>T	ExAC,gnomAD
rs1198732249	p.Arg759Ser	missense variant	-	NC_000004.12:g.54280436A>T	gnomAD
rs779246705	p.Ser760Pro	missense variant	-	NC_000004.12:g.54280437T>C	ExAC,TOPMed,gnomAD
RCV000121785	p.Leu761Arg	missense variant	-	NC_000004.12:g.54280441T>G	ClinVar
rs748362104	p.Leu761Phe	missense variant	-	NC_000004.12:g.54280440C>T	ExAC
rs148654387	p.Leu761Arg	missense variant	-	NC_000004.12:g.54280441T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1171641135	p.Tyr762Cys	missense variant	-	NC_000004.12:g.54280444A>G	gnomAD
NCI-TCGA novel	p.Asp763Gly	missense variant	-	NC_000004.12:g.54280447A>G	NCI-TCGA
rs1396132478	p.Asp763Glu	missense variant	-	NC_000004.12:g.54280448T>A	gnomAD
RCV000532726	p.Arg764His	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54280450G>A	ClinVar
RCV000633714	p.Arg764Cys	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54280449C>T	ClinVar
rs141047712	p.Arg764His	missense variant	-	NC_000004.12:g.54280450G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs34392012	p.Arg764Cys	missense variant	-	NC_000004.12:g.54280449C>T	TOPMed
rs1325295795	p.Pro765Thr	missense variant	-	NC_000004.12:g.54280452C>A	gnomAD
rs61735625	p.Tyr768Cys	missense variant	-	NC_000004.12:g.54280462A>G	ExAC,TOPMed,gnomAD
RCV000121783	p.Lys769Met	missense variant	-	NC_000004.12:g.54280465A>T	ClinVar
RCV000553089	p.Lys769Arg	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54280465A>G	ClinVar
rs373061721	p.Lys769Met	missense variant	-	NC_000004.12:g.54280465A>T	ESP,ExAC,TOPMed,gnomAD
rs373061721	p.Lys769Arg	missense variant	-	NC_000004.12:g.54280465A>G	ESP,ExAC,TOPMed,gnomAD
rs1248440566	p.Lys770Glu	missense variant	-	NC_000004.12:g.54280467A>G	TOPMed
COSM176716	p.Lys770Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54280469G>T	NCI-TCGA Cosmic
RCV000529522	p.Met773Val	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54280476A>G	ClinVar
rs191808397	p.Met773Val	missense variant	-	NC_000004.12:g.54280476A>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000633839	p.Ser776Ala	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285373T>G	ClinVar
rs1553905944	p.Ser776Ala	missense variant	-	NC_000004.12:g.54285373T>G	-
rs1427951828	p.Glu777Gly	missense variant	-	NC_000004.12:g.54285377A>G	gnomAD
rs1479198937	p.Val778Ala	missense variant	-	NC_000004.12:g.54285380T>C	gnomAD
rs200808048	p.Val778Phe	missense variant	-	NC_000004.12:g.54285379G>T	gnomAD
rs200808048	p.Val778Ile	missense variant	-	NC_000004.12:g.54285379G>A	gnomAD
rs1553905957	p.Lys779Asn	missense variant	-	NC_000004.12:g.54285384A>C	-
RCV000633812	p.Lys779Asn	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285384A>C	ClinVar
COSM267157	p.Asn780ThrPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.54285382A>-	NCI-TCGA Cosmic
rs757362953	p.Leu781Phe	missense variant	-	NC_000004.12:g.54285388C>T	ExAC,TOPMed,gnomAD
rs757362953	p.Leu781Ile	missense variant	-	NC_000004.12:g.54285388C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser783Leu	missense variant	-	NC_000004.12:g.54285395C>T	NCI-TCGA
RCV000546903	p.Asp784Tyr	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285397G>T	ClinVar
rs1553905962	p.Asp784Tyr	missense variant	-	NC_000004.12:g.54285397G>T	-
NCI-TCGA novel	p.Asp785Tyr	missense variant	-	NC_000004.12:g.54285400G>T	NCI-TCGA
RCV000559472	p.Asp785Gly	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285401A>G	ClinVar
rs1553905964	p.Asp785Gly	missense variant	-	NC_000004.12:g.54285401A>G	-
rs1351841980	p.Asn786Asp	missense variant	-	NC_000004.12:g.54285403A>G	TOPMed
NCI-TCGA novel	p.Ser787Thr	missense variant	-	NC_000004.12:g.54285406T>A	NCI-TCGA
COSM1056076	p.Glu788Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.54285409G>T	NCI-TCGA Cosmic
rs536062496	p.Glu788Lys	missense variant	-	NC_000004.12:g.54285409G>A	1000Genomes,ExAC,gnomAD
RCV000535371	p.Gly789Asp	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285413G>A	ClinVar
rs555553917	p.Gly789Asp	missense variant	-	NC_000004.12:g.54285413G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs771661933	p.Leu790Phe	missense variant	-	NC_000004.12:g.54285415C>T	ExAC,TOPMed,gnomAD
COSM3604510	p.Leu790Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54285416T>C	NCI-TCGA Cosmic
RCV000688767	p.Asp794Asn	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285427G>A	ClinVar
rs1195815525	p.Asp794Gly	missense variant	-	NC_000004.12:g.54285428A>G	TOPMed
COSM6167425	p.Phe798Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54285441C>A	NCI-TCGA Cosmic
rs1221831022	p.Thr799Ala	missense variant	-	NC_000004.12:g.54285442A>G	gnomAD
rs772948645	p.Thr799Ile	missense variant	-	NC_000004.12:g.54285443C>T	ExAC,TOPMed,gnomAD
RCV000700093	p.Val802Phe	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285451G>T	ClinVar
NCI-TCGA novel	p.Arg804ProPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.54285454_54285455insC	NCI-TCGA
RCV000475433	p.Arg804Gln	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285458G>A	ClinVar
rs571523023	p.Arg804Gln	missense variant	-	NC_000004.12:g.54285458G>A	ExAC,TOPMed,gnomAD
rs1242960071	p.Arg804Ter	stop gained	-	NC_000004.12:g.54285457C>T	gnomAD
rs867690523	p.Met806Ile	missense variant	-	NC_000004.12:g.54285465G>A	TOPMed
NCI-TCGA novel	p.Glu807GlyPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.54285467A>-	NCI-TCGA
rs776215616	p.Glu807Lys	missense variant	-	NC_000004.12:g.54285466G>A	ExAC
NCI-TCGA novel	p.Phe808Leu	missense variant	-	NC_000004.12:g.54285471T>G	NCI-TCGA
RCV000633754	p.Asn813His	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285484A>C	ClinVar
rs1210337394	p.Asn813His	missense variant	-	NC_000004.12:g.54285484A>C	gnomAD
COSM1056078	p.Val815Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54285845T>C	NCI-TCGA Cosmic
RCV000560803	p.Arg817Gly	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285850C>G	ClinVar
rs776099721	p.Arg817Gly	missense variant	-	NC_000004.12:g.54285850C>G	ExAC,gnomAD
rs776099721	p.Arg817Cys	missense variant	-	NC_000004.12:g.54285850C>T	ExAC,gnomAD
COSM4923857	p.Leu819Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54285857T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg822Leu	missense variant	-	NC_000004.12:g.54285866G>T	NCI-TCGA
COSM5772696	p.Arg822Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54285865C>T	NCI-TCGA Cosmic
rs763325080	p.Arg822His	missense variant	-	NC_000004.12:g.54285866G>A	ExAC,TOPMed,gnomAD
RCV000464549	p.Val824Ile	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285871G>A	ClinVar
rs370600501	p.Val824Ile	missense variant	-	NC_000004.12:g.54285871G>A	ESP,ExAC,TOPMed,gnomAD
COSM5966957	p.Leu826Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54285878T>C	NCI-TCGA Cosmic
rs750553538	p.Ala827Val	missense variant	-	NC_000004.12:g.54285881C>T	ExAC,gnomAD
RCV000206751	p.Gln828Arg	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285884A>G	ClinVar
rs756209197	p.Gln828Arg	missense variant	-	NC_000004.12:g.54285884A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly829Val	missense variant	-	NC_000004.12:g.54285887G>T	NCI-TCGA
VAR_042035	p.Gly829Arg	Missense	-	-	UniProt
rs779958669	p.Ile831Thr	missense variant	-	NC_000004.12:g.54285893T>C	ExAC,gnomAD
rs1315803700	p.Val832Met	missense variant	-	NC_000004.12:g.54285895G>A	gnomAD
COSM734175	p.Asp836Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54285909C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Phe837Ser	missense variant	-	NC_000004.12:g.54285911T>C	NCI-TCGA
RCV000443097	p.Arg841Lys	missense variant	Cutaneous melanoma	NC_000004.12:g.54285923G>A	ClinVar
rs1057519813	p.Arg841Lys	missense variant	-	NC_000004.12:g.54285923G>A	-
RCV000014501	p.Asp842Val	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285926A>T	ClinVar
RCV000439137	p.Asp842Tyr	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285925G>T	ClinVar
RCV000437652	p.Asp842Ile	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285925_54285926delinsAT	ClinVar
rs121913265	p.Asp842Tyr	missense variant	-	NC_000004.12:g.54285925G>T	UniProt,dbSNP
VAR_066472	p.Asp842Tyr	missense variant	-	NC_000004.12:g.54285925G>T	UniProt
rs121913265	p.Asp842Tyr	missense variant	-	NC_000004.12:g.54285925G>T	-
rs121908585	p.Asp842Val	missense variant	-	NC_000004.12:g.54285926A>T	UniProt,dbSNP
VAR_066471	p.Asp842Val	missense variant	-	NC_000004.12:g.54285926A>T	UniProt
rs121908585	p.Asp842Val	missense variant	-	NC_000004.12:g.54285926A>T	-
rs121913264	p.Asp842Ile	missense variant	-	NC_000004.12:g.54285925_54285926delinsAT	-
VAR_066470	p.Asp842_His845del	inframe_deletion	-	-	UniProt
rs758210670	p.Met844Thr	missense variant	-	NC_000004.12:g.54285932T>C	ExAC,gnomAD
RCV000456448	p.His845Arg	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285935A>G	ClinVar
RCV000427776	p.His845Tyr	missense variant	Cutaneous melanoma	NC_000004.12:g.54285934C>T	ClinVar
rs1057519814	p.His845Tyr	missense variant	-	NC_000004.12:g.54285934C>T	-
rs777679907	p.His845Arg	missense variant	-	NC_000004.12:g.54285935A>G	ExAC,TOPMed,gnomAD
VAR_066473	p.His845_Asn848del	inframe_deletion	-	-	UniProt
rs121908588	p.Asp846Tyr	missense variant	-	NC_000004.12:g.54285937G>T	-
RCV000442350	p.Asp846Tyr	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285937G>T	ClinVar
COSM3974939	p.Asp846Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54285938A>G	NCI-TCGA Cosmic
RCV000633756	p.Ser847Leu	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285941C>T	ClinVar
rs377487797	p.Ser847Leu	missense variant	-	NC_000004.12:g.54285941C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn848Phe	insertion	-	NC_000004.12:g.54285945_54285946insTTT	NCI-TCGA
VAR_066475	p.Tyr849Ser	Missense	-	-	UniProt
VAR_066474	p.Tyr849Cys	Missense	Gastrointestinal stromal tumor (GIST) [MIM:606764]	-	UniProt
RCV000705889	p.Val850Met	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285949G>A	ClinVar
rs1409442871	p.Val850Ala	missense variant	-	NC_000004.12:g.54285950T>C	gnomAD
rs745464928	p.Ser851Leu	missense variant	-	NC_000004.12:g.54285953C>T	ExAC,gnomAD
RCV000433255	p.Gly853Asp	missense variant	Cutaneous melanoma	NC_000004.12:g.54285959G>A	ClinVar
rs763576329	p.Gly853Ala	missense variant	-	NC_000004.12:g.54285959G>C	ExAC,gnomAD
rs763576329	p.Gly853Asp	missense variant	-	NC_000004.12:g.54285959G>A	ExAC,gnomAD
RCV000633794	p.Ser854Arg	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285963T>A	ClinVar
rs1164252451	p.Ser854Arg	missense variant	-	NC_000004.12:g.54285963T>A	TOPMed
rs1222441176	p.Thr855Asn	missense variant	-	NC_000004.12:g.54287431C>A	gnomAD
rs1280900050	p.Pro858Leu	missense variant	-	NC_000004.12:g.54287440C>T	gnomAD
RCV000467678	p.Val859Met	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54287442G>A	ClinVar
rs1060501520	p.Val859Met	missense variant	-	NC_000004.12:g.54287442G>A	NCI-TCGA
rs1060501520	p.Val859Met	missense variant	-	NC_000004.12:g.54287442G>A	TOPMed,gnomAD
rs762269030	p.Lys860Arg	missense variant	-	NC_000004.12:g.54287446A>G	ExAC,gnomAD
rs1156961134	p.Met862Ile	missense variant	-	NC_000004.12:g.54287453G>A	TOPMed
rs1262796345	p.Ala863Ser	missense variant	-	NC_000004.12:g.54287454G>T	TOPMed,gnomAD
RCV000633842	p.Asn870Ser	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54287476A>G	ClinVar
rs1553906267	p.Asn870Ser	missense variant	-	NC_000004.12:g.54287476A>G	-
NCI-TCGA novel	p.Tyr872Asp	missense variant	-	NC_000004.12:g.54287481T>G	NCI-TCGA
COSM6167422	p.Thr873Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54287485C>A	NCI-TCGA Cosmic
RCV000475723	p.Ile883Val	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54287514A>G	ClinVar
rs776811374	p.Ile883Val	missense variant	-	NC_000004.12:g.54287514A>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu885Val	missense variant	-	NC_000004.12:g.54287520C>G	NCI-TCGA
COSM283927	p.Leu885Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54287520C>T	NCI-TCGA Cosmic
COSM3604512	p.Ile888Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54287530T>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Phe889Val	missense variant	-	NC_000004.12:g.54287532T>G	NCI-TCGA
COSM131789	p.Ser890Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54287536C>T	NCI-TCGA Cosmic
rs759510574	p.Leu891Phe	missense variant	-	NC_000004.12:g.54287538C>T	NCI-TCGA
rs759510574	p.Leu891Phe	missense variant	-	NC_000004.12:g.54287538C>T	ExAC,gnomAD
RCV000633818	p.Thr894Asn	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54288805C>A	ClinVar
rs1194156035	p.Thr894Asn	missense variant	-	NC_000004.12:g.54288805C>A	gnomAD
NCI-TCGA novel	p.Pro895LeuPheSerTerUnk	frameshift	-	NC_000004.12:g.54288805C>-	NCI-TCGA
COSM3604513	p.Pro895Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54288808C>T	NCI-TCGA Cosmic
RCV000633751	p.Pro897Ser	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54288813C>T	ClinVar
rs1435679141	p.Pro897Ser	missense variant	-	NC_000004.12:g.54288813C>T	TOPMed
NCI-TCGA novel	p.Gly898Asp	missense variant	-	NC_000004.12:g.54288817G>A	NCI-TCGA
rs1185214354	p.Gly898Ser	missense variant	-	NC_000004.12:g.54288816G>A	NCI-TCGA Cosmic
rs1185214354	p.Gly898Ser	missense variant	-	NC_000004.12:g.54288816G>A	TOPMed,gnomAD
RCV000531676	p.Met900Leu	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54288822A>T	ClinVar
NCI-TCGA novel	p.Met900Lys	missense variant	-	NC_000004.12:g.54288823T>A	NCI-TCGA
rs1553906446	p.Met900Leu	missense variant	-	NC_000004.12:g.54288822A>T	-
RCV000464018	p.Thr904Ile	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54288835C>T	ClinVar
rs778327861	p.Thr904Ile	missense variant	-	NC_000004.12:g.54288835C>T	ExAC,TOPMed,gnomAD
COSM3604515	p.Asn907Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54288844A>C	NCI-TCGA Cosmic
RCV000688106	p.Asn907Ser	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54288844A>G	ClinVar
NCI-TCGA novel	p.Lys908Thr	missense variant	-	NC_000004.12:g.54288847A>C	NCI-TCGA
RCV000695984	p.Lys908Glu	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54288846A>G	ClinVar
rs1161645651	p.Lys908Gln	missense variant	-	NC_000004.12:g.54288846A>C	gnomAD
RCV000470216	p.Ile909Phe	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54288849A>T	ClinVar
rs1060501509	p.Ile909Phe	missense variant	-	NC_000004.12:g.54288849A>T	-
rs1400850021	p.Lys910Arg	missense variant	-	NC_000004.12:g.54288853A>G	gnomAD
RCV000707719	p.Ser911Ile	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54288856G>T	ClinVar
rs1317114941	p.Ser911Asn	missense variant	-	NC_000004.12:g.54288856G>A	gnomAD
COSM6167421	p.Gly912Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54288858G>T	NCI-TCGA Cosmic
COSM1430092	p.Gly912Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54288859G>C	NCI-TCGA Cosmic
rs1324332329	p.Tyr913Ter	stop gained	-	NC_000004.12:g.54288863C>G	gnomAD
rs1428997941	p.Arg914Leu	missense variant	-	NC_000004.12:g.54288865G>T	gnomAD
RCV000633744	p.Arg914Gln	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54288865G>A	ClinVar
RCV000694935	p.Arg914Trp	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54288864C>T	ClinVar
rs1428997941	p.Arg914Gln	missense variant	-	NC_000004.12:g.54288865G>A	gnomAD
NCI-TCGA novel	p.Ala916Thr	missense variant	-	NC_000004.12:g.54288870G>A	NCI-TCGA
rs1403858596	p.Ala916Asp	missense variant	-	NC_000004.12:g.54288871C>A	TOPMed
rs1245859165	p.Asp919Gly	missense variant	-	NC_000004.12:g.54288880A>G	gnomAD
RCV000702390	p.Asp919Glu	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54288881C>G	ClinVar
COSM6167420	p.Ala921Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54288886C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr922Ala	missense variant	-	NC_000004.12:g.54288888A>G	NCI-TCGA
rs977162554	p.Thr922Ser	missense variant	-	NC_000004.12:g.54288889C>G	TOPMed
RCV000693186	p.Thr922Pro	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54288888A>C	ClinVar
RCV000458566	p.Ser923Thr	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54288892G>C	ClinVar
rs1060501511	p.Ser923Thr	missense variant	-	NC_000004.12:g.54288892G>C	-
rs267600187	p.Glu927Lys	missense variant	-	NC_000004.12:g.54289013G>A	NCI-TCGA
rs759251401	p.Glu927Asp	missense variant	-	NC_000004.12:g.54289015G>C	ExAC,TOPMed,gnomAD
rs267600187	p.Glu927Lys	missense variant	-	NC_000004.12:g.54289013G>A	-
RCV000532019	p.Ile928Met	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54289018C>G	ClinVar
COSM1430093	p.Ile928Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54289016A>T	NCI-TCGA Cosmic
rs764838149	p.Ile928Met	missense variant	-	NC_000004.12:g.54289018C>G	ExAC,gnomAD
rs1553906487	p.Ser935Arg	missense variant	-	NC_000004.12:g.54289039T>G	-
RCV000544490	p.Ser935Arg	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54289039T>G	ClinVar
COSM6167419	p.Glu936Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.54289040G>T	NCI-TCGA Cosmic
COSM481338	p.Pro937Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54289043C>G	NCI-TCGA Cosmic
rs1328843460	p.Glu938Gln	missense variant	-	NC_000004.12:g.54289046G>C	gnomAD
COSM1430095	p.Lys939Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54289051G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg940ValPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.54289051_54289052insGTGGATTCTACTTTCTACAATA	NCI-TCGA
rs1344020042	p.Arg940Lys	missense variant	-	NC_000004.12:g.54289053G>A	TOPMed
NCI-TCGA novel	p.Pro941His	missense variant	-	NC_000004.12:g.54289056C>A	NCI-TCGA
NCI-TCGA novel	p.Ser942Pro	missense variant	-	NC_000004.12:g.54289058T>C	NCI-TCGA
NCI-TCGA novel	p.His945Tyr	missense variant	-	NC_000004.12:g.54289067C>T	NCI-TCGA
COSM3409363	p.Ser947Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54289074G>C	NCI-TCGA Cosmic
rs1284091709	p.Ser947Asn	missense variant	-	NC_000004.12:g.54289074G>A	gnomAD
rs1226557820	p.Ile949Val	missense variant	-	NC_000004.12:g.54289079A>G	TOPMed
COSM6167418	p.Val950Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54289082G>T	NCI-TCGA Cosmic
COSM1430096	p.Glu951Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54289087G>T	NCI-TCGA Cosmic
COSM6167417	p.Leu954Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54289094C>A	NCI-TCGA Cosmic
rs752010861	p.Gly956Glu	missense variant	-	NC_000004.12:g.54289101G>A	ExAC,gnomAD
rs1323119166	p.Gly956Arg	missense variant	-	NC_000004.12:g.54289100G>A	gnomAD
rs757720616	p.Gln957Arg	missense variant	-	NC_000004.12:g.54289104A>G	ExAC,gnomAD
rs752373446	p.Gln957His	missense variant	-	NC_000004.12:g.54289105A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys960Met	missense variant	-	NC_000004.12:g.54289113A>T	NCI-TCGA
rs756581500	p.Glu963Lys	missense variant	-	NC_000004.12:g.54290319G>A	ExAC,TOPMed,gnomAD
RCV000689368	p.Lys964Glu	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290322A>G	ClinVar
rs1290364180	p.Lys964Glu	missense variant	-	NC_000004.12:g.54290322A>G	gnomAD
RCV000533208	p.Ile965Ter	frameshift	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290325del	ClinVar
RCV000230418	p.His966Arg	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290329A>G	ClinVar
RCV000034720	p.His966Arg	missense variant	-	NC_000004.12:g.54290329A>G	ClinVar
rs200042995	p.His966Arg	missense variant	-	NC_000004.12:g.54290329A>G	ESP,ExAC,TOPMed,gnomAD
RCV000121787	p.Leu967Val	missense variant	-	NC_000004.12:g.54290331C>G	ClinVar
rs140943817	p.Leu967Val	missense variant	-	NC_000004.12:g.54290331C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp968Asn	missense variant	-	NC_000004.12:g.54290334G>A	NCI-TCGA
rs267600189	p.Phe969Leu	missense variant	-	NC_000004.12:g.54290339C>A	ExAC,gnomAD
rs1553906621	p.Leu970Pro	missense variant	-	NC_000004.12:g.54290341T>C	-
RCV000534679	p.Leu970Pro	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290341T>C	ClinVar
rs1192943586	p.Lys971Thr	missense variant	-	NC_000004.12:g.54290344A>C	gnomAD
rs1388812728	p.Lys971Asn	missense variant	-	NC_000004.12:g.54290345G>T	gnomAD
rs1353514444	p.Ser972Gly	missense variant	-	NC_000004.12:g.54290346A>G	gnomAD
rs1353514444	p.Ser972Gly	missense variant	-	NC_000004.12:g.54290346A>G	NCI-TCGA Cosmic
rs1467854764	p.Asp973Glu	missense variant	-	NC_000004.12:g.54290351C>A	TOPMed
NCI-TCGA novel	p.His974Gln	missense variant	-	NC_000004.12:g.54290354T>G	NCI-TCGA
rs1007954435	p.Ala976Pro	missense variant	-	NC_000004.12:g.54290358G>C	TOPMed
RCV000550847	p.Ala976Thr	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290358G>A	ClinVar
rs1007954435	p.Ala976Thr	missense variant	-	NC_000004.12:g.54290358G>A	TOPMed
rs375104103	p.Val977Gly	missense variant	-	NC_000004.12:g.54290362T>G	ESP,TOPMed
RCV000633788	p.Ala978Ser	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290364G>T	ClinVar
rs770822231	p.Ala978Ser	missense variant	-	NC_000004.12:g.54290364G>T	ExAC,gnomAD
RCV000228242	p.Arg979Cys	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290367C>T	ClinVar
RCV000462430	p.Arg979His	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290368G>A	ClinVar
rs587778598	p.Arg979His	missense variant	-	NC_000004.12:g.54290368G>A	NCI-TCGA,NCI-TCGA Cosmic
rs587778597	p.Arg979Cys	missense variant	-	NC_000004.12:g.54290367C>T	ExAC,TOPMed,gnomAD
rs587778598	p.Arg979His	missense variant	-	NC_000004.12:g.54290368G>A	ExAC,TOPMed,gnomAD
RCV000694341	p.Met980Thr	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290371T>C	ClinVar
rs1381392993	p.Met980Thr	missense variant	-	NC_000004.12:g.54290371T>C	gnomAD
rs769579172	p.Met980Val	missense variant	-	NC_000004.12:g.54290370A>G	ExAC,gnomAD
RCV000232212	p.Arg981His	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290374G>A	ClinVar
rs368266633	p.Arg981His	missense variant	-	NC_000004.12:g.54290374G>A	NCI-TCGA,NCI-TCGA Cosmic
rs368266633	p.Arg981Pro	missense variant	-	NC_000004.12:g.54290374G>C	NCI-TCGA,NCI-TCGA Cosmic
rs775205485	p.Arg981Cys	missense variant	-	NC_000004.12:g.54290373C>T	NCI-TCGA
rs775205485	p.Arg981Cys	missense variant	-	NC_000004.12:g.54290373C>T	ExAC,TOPMed,gnomAD
rs368266633	p.Arg981His	missense variant	-	NC_000004.12:g.54290374G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368266633	p.Arg981Pro	missense variant	-	NC_000004.12:g.54290374G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1314369942	p.Val982Ala	missense variant	-	NC_000004.12:g.54290377T>C	gnomAD
RCV000633850	p.Val982Met	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290376G>A	ClinVar
COSM734173	p.Val982Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54290376G>T	NCI-TCGA Cosmic
rs1553906630	p.Val982Met	missense variant	-	NC_000004.12:g.54290376G>A	NCI-TCGA
rs1553906630	p.Val982Met	missense variant	-	NC_000004.12:g.54290376G>A	-
rs1553906632	p.Asp983Tyr	missense variant	-	NC_000004.12:g.54290379G>T	-
RCV000558713	p.Asp983Tyr	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290379G>T	ClinVar
RCV000702667	p.Ser984Leu	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290383C>T	ClinVar
RCV000464523	p.Asp985Asn	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290385G>A	ClinVar
rs1060501516	p.Asp985Asn	missense variant	-	NC_000004.12:g.54290385G>A	NCI-TCGA Cosmic
rs1060501516	p.Asp985Asn	missense variant	-	NC_000004.12:g.54290385G>A	-
RCV000465618	p.Asn986Ser	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290389A>G	ClinVar
rs372859148	p.Asn986Ser	missense variant	-	NC_000004.12:g.54290389A>G	ESP,ExAC,TOPMed,gnomAD
rs746381701	p.Asn986Lys	missense variant	-	NC_000004.12:g.54290390T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala987Glu	missense variant	-	NC_000004.12:g.54290392C>A	NCI-TCGA
rs756632688	p.Ala987Val	missense variant	-	NC_000004.12:g.54290392C>T	ExAC,TOPMed,gnomAD
rs1334321310	p.Tyr988His	missense variant	-	NC_000004.12:g.54290394T>C	TOPMed
rs1206479566	p.Tyr988Cys	missense variant	-	NC_000004.12:g.54290395A>G	gnomAD
RCV000633774	p.Ile989Leu	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290397A>C	ClinVar
RCV000474365	p.Ile989Val	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290397A>G	ClinVar
RCV000121790	p.Ile989Thr	missense variant	-	NC_000004.12:g.54290398T>C	ClinVar
RCV000764540	p.Ile989Val	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290397A>G	ClinVar
rs145019788	p.Ile989Val	missense variant	-	NC_000004.12:g.54290397A>G	ESP,ExAC,TOPMed,gnomAD
rs587778599	p.Ile989Thr	missense variant	-	NC_000004.12:g.54290398T>C	TOPMed
rs145019788	p.Ile989Leu	missense variant	-	NC_000004.12:g.54290397A>C	ESP,ExAC,TOPMed,gnomAD
rs1184746473	p.Val991Ile	missense variant	-	NC_000004.12:g.54290403G>A	gnomAD
rs1449825367	p.Thr992Pro	missense variant	-	NC_000004.12:g.54290406A>C	TOPMed
rs1437358654	p.Thr992Ile	missense variant	-	NC_000004.12:g.54290407C>T	gnomAD
rs952413151	p.Tyr993Asn	missense variant	-	NC_000004.12:g.54290409T>A	TOPMed,gnomAD
RCV000535021	p.Lys994Glu	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290412A>G	ClinVar
rs552254049	p.Lys994Glu	missense variant	-	NC_000004.12:g.54290412A>G	1000Genomes,TOPMed
rs779173667	p.Glu996Lys	missense variant	-	NC_000004.12:g.54290418G>A	NCI-TCGA,NCI-TCGA Cosmic
rs779173667	p.Glu996Lys	missense variant	-	NC_000004.12:g.54290418G>A	ExAC,TOPMed,gnomAD
rs779173667	p.Glu996Lys	missense variant	-	NC_000004.12:g.54290418G>A	UniProt,dbSNP
VAR_042036	p.Glu996Lys	missense variant	-	NC_000004.12:g.54290418G>A	UniProt
rs748269104	p.Glu996Asp	missense variant	-	NC_000004.12:g.54290420G>C	ExAC,TOPMed,gnomAD
RCV000226613	p.Glu997Lys	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290421G>A	ClinVar
rs758534651	p.Glu997Lys	missense variant	-	NC_000004.12:g.54290421G>A	ExAC,TOPMed,gnomAD
RCV000228338	p.Lys999Asn	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290429G>C	ClinVar
rs772463000	p.Lys999Asn	missense variant	-	NC_000004.12:g.54290429G>C	ExAC,TOPMed,gnomAD
rs568721384	p.Leu1000Val	missense variant	-	NC_000004.12:g.54290430C>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys1001Met	missense variant	-	NC_000004.12:g.54290434A>T	NCI-TCGA
NCI-TCGA novel	p.Lys1001Asn	missense variant	-	NC_000004.12:g.54290435G>T	NCI-TCGA
RCV000696315	p.Asp1002Tyr	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290436G>T	ClinVar
RCV000470965	p.Asp1002Asn	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290436G>A	ClinVar
RCV000034721	p.Asp1002Tyr	missense variant	-	NC_000004.12:g.54290436G>T	ClinVar
rs200676118	p.Asp1002Tyr	missense variant	-	NC_000004.12:g.54290436G>T	-
rs200676118	p.Asp1002Asn	missense variant	-	NC_000004.12:g.54290436G>A	-
RCV000633726	p.Trp1003Cys	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290441G>T	ClinVar
rs981559406	p.Trp1003Cys	missense variant	-	NC_000004.12:g.54290441G>T	NCI-TCGA Cosmic
rs981559406	p.Trp1003Cys	missense variant	-	NC_000004.12:g.54290441G>T	TOPMed
rs1376909345	p.Glu1004Lys	missense variant	-	NC_000004.12:g.54290442G>A	gnomAD
rs1348842755	p.Leu1007Met	missense variant	-	NC_000004.12:g.54290451C>A	NCI-TCGA
rs1348842755	p.Leu1007Met	missense variant	-	NC_000004.12:g.54290451C>A	TOPMed
NCI-TCGA novel	p.Glu1009Asp	missense variant	-	NC_000004.12:g.54290459G>T	NCI-TCGA
rs1247175258	p.Gln1010Ter	stop gained	-	NC_000004.12:g.54290460C>T	TOPMed
rs1553906650	p.Arg1011Lys	missense variant	-	NC_000004.12:g.54290464G>A	-
RCV000528364	p.Arg1011Lys	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290464G>A	ClinVar
rs1307047645	p.Ser1013Ile	missense variant	-	NC_000004.12:g.54290470G>T	gnomAD
COSM4942937	p.Ser1013Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54290469A>G	NCI-TCGA Cosmic
RCV000540806	p.Ala1014Thr	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290472G>A	ClinVar
rs768291477	p.Ala1014Thr	missense variant	-	NC_000004.12:g.54290472G>A	NCI-TCGA
rs768291477	p.Ala1014Thr	missense variant	-	NC_000004.12:g.54290472G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp1015Val	missense variant	-	NC_000004.12:g.54290476A>T	NCI-TCGA
rs774086813	p.Tyr1018Ter	stop gained	-	NC_000004.12:g.54290486C>A	ExAC,gnomAD
rs761308715	p.Ile1019Asn	missense variant	-	NC_000004.12:g.54290488T>A	ExAC,gnomAD
RCV000633815	p.Ile1020Val	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290490A>G	ClinVar
rs767151323	p.Ile1020Val	missense variant	-	NC_000004.12:g.54290490A>G	ExAC,TOPMed,gnomAD
rs772837015	p.Pro1021Leu	missense variant	-	NC_000004.12:g.54290494C>T	ExAC,gnomAD
RCV000633772	p.Asp1024Asn	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290502G>A	ClinVar
rs1553906665	p.Asp1024Asn	missense variant	-	NC_000004.12:g.54290502G>A	-
rs754302100	p.Ile1025Met	missense variant	-	NC_000004.12:g.54290507T>G	ExAC,gnomAD
RCV000553620	p.Ile1025Val	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290505A>G	ClinVar
rs1553906669	p.Ile1025Val	missense variant	-	NC_000004.12:g.54290505A>G	-
rs1553906671	p.Asp1026Asn	missense variant	-	NC_000004.12:g.54290508G>A	-
RCV000542345	p.Asp1026Gly	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290509A>G	ClinVar
RCV000525361	p.Asp1026Asn	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290508G>A	ClinVar
rs1418641601	p.Asp1026Gly	missense variant	-	NC_000004.12:g.54290509A>G	TOPMed,gnomAD
COSM481339	p.Asp1026Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54290510C>A	NCI-TCGA Cosmic
rs755391122	p.Pro1027Leu	missense variant	-	NC_000004.12:g.54290512C>T	NCI-TCGA
rs1383509559	p.Pro1027Ser	missense variant	-	NC_000004.12:g.54290511C>T	TOPMed
COSM1056087	p.Pro1027His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54290512C>A	NCI-TCGA Cosmic
rs755391122	p.Pro1027Leu	missense variant	-	NC_000004.12:g.54290512C>T	ExAC,gnomAD
RCV000230125	p.Val1028Ala	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290515T>C	ClinVar
rs765476521	p.Val1028Ala	missense variant	-	NC_000004.12:g.54290515T>C	ExAC,TOPMed,gnomAD
rs765476521	p.Val1028Asp	missense variant	-	NC_000004.12:g.54290515T>A	ExAC,TOPMed,gnomAD
rs1553906681	p.Pro1029Leu	missense variant	-	NC_000004.12:g.54290518C>T	-
RCV000633795	p.Pro1029Leu	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290518C>T	ClinVar
COSM481340	p.Glu1030Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54290522G>T	NCI-TCGA Cosmic
rs752966371	p.Glu1030Lys	missense variant	-	NC_000004.12:g.54290520G>A	ExAC,TOPMed,gnomAD
COSM481342	p.Glu1031Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.54290523G>T	NCI-TCGA Cosmic
rs1444450672	p.Glu1031Lys	missense variant	-	NC_000004.12:g.54290523G>A	gnomAD
COSM6100282	p.Glu1032Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54290528G>T	NCI-TCGA Cosmic
RCV000685699	p.Asp1033Glu	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290531C>G	ClinVar
RCV000457138	p.Asp1033Val	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290530A>T	ClinVar
rs201874958	p.Asp1033Val	missense variant	-	NC_000004.12:g.54290530A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1335871475	p.Asp1033Tyr	missense variant	-	NC_000004.12:g.54290529G>T	gnomAD
RCV000691485	p.Leu1034Pro	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290533T>C	ClinVar
rs1444268252	p.Leu1034Pro	missense variant	-	NC_000004.12:g.54290533T>C	gnomAD
rs777886441	p.Gly1035Ala	missense variant	-	NC_000004.12:g.54290536G>C	ExAC,TOPMed,gnomAD
rs747082676	p.Arg1037Lys	missense variant	-	NC_000004.12:g.54290542G>A	ExAC,gnomAD
rs1060501518	p.Asn1038Lys	missense variant	-	NC_000004.12:g.54290546C>G	-
RCV000459312	p.Asn1038Lys	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290546C>G	ClinVar
rs756081317	p.Arg1039Lys	missense variant	-	NC_000004.12:g.54290548G>A	ExAC,gnomAD
rs1224462951	p.His1040Pro	missense variant	-	NC_000004.12:g.54290551A>C	gnomAD
rs764265933	p.Ser1042Leu	missense variant	-	NC_000004.12:g.54295127C>T	NCI-TCGA,NCI-TCGA Cosmic
rs764265933	p.Ser1042Leu	missense variant	-	NC_000004.12:g.54295127C>T	ExAC,TOPMed,gnomAD
COSM3974940	p.Gln1043His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54295131G>C	NCI-TCGA Cosmic
rs1553907178	p.Gln1043Arg	missense variant	-	NC_000004.12:g.54295130A>G	-
RCV000633738	p.Gln1043Arg	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54295130A>G	ClinVar
rs1288330578	p.Thr1044Ile	missense variant	-	NC_000004.12:g.54295133C>T	gnomAD
RCV000460328	p.Glu1047Asp	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54295143G>C	ClinVar
rs1060501513	p.Glu1047Asp	missense variant	-	NC_000004.12:g.54295143G>C	-
rs1203681167	p.Glu1047Gln	missense variant	-	NC_000004.12:g.54295141G>C	gnomAD
rs757362827	p.Ile1050Leu	missense variant	-	NC_000004.12:g.54295150A>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu1051Lys	missense variant	-	NC_000004.12:g.54295153G>A	NCI-TCGA
RCV000032819	p.Thr1052Met	missense variant	Cleft palate, isolated (CPI)	NC_000004.12:g.54295157C>T	ClinVar
RCV000232988	p.Thr1052Met	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54295157C>T	ClinVar
rs1215904714	p.Thr1052Ser	missense variant	-	NC_000004.12:g.54295156A>T	TOPMed
RCV000633830	p.Thr1052Ser	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54295156A>T	ClinVar
rs397514550	p.Thr1052Met	missense variant	-	NC_000004.12:g.54295157C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1215673916	p.Gly1053Arg	missense variant	-	NC_000004.12:g.54295159G>C	TOPMed
rs778837386	p.Ser1054Cys	missense variant	-	NC_000004.12:g.54295163C>G	ExAC,gnomAD
COSM4487328	p.Ser1057Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54295172C>T	NCI-TCGA Cosmic
rs747864564	p.Thr1058Asn	missense variant	-	NC_000004.12:g.54295175C>A	ExAC,gnomAD
RCV000229701	p.Ile1060Asn	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54295181T>A	ClinVar
rs774522904	p.Ile1060Thr	missense variant	-	NC_000004.12:g.54295181T>C	ExAC,TOPMed,gnomAD
rs774522904	p.Ile1060Asn	missense variant	-	NC_000004.12:g.54295181T>A	ExAC,TOPMed,gnomAD
rs138036141	p.Lys1061Asn	missense variant	-	NC_000004.12:g.54295185G>C	ESP
RCV000391349	p.Asp1064Gly	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54295193A>G	ClinVar
RCV000287548	p.Asp1064Gly	missense variant	Idiopathic hypereosinophilic syndrome (HES)	NC_000004.12:g.54295193A>G	ClinVar
rs375050626	p.Asp1064Gly	missense variant	-	NC_000004.12:g.54295193A>G	ESP,ExAC,TOPMed,gnomAD
rs369389595	p.Glu1065Lys	missense variant	-	NC_000004.12:g.54295195G>A	ESP,ExAC,TOPMed,gnomAD
RCV000470552	p.Thr1066Ile	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54295199C>T	ClinVar
rs775944809	p.Thr1066Ile	missense variant	-	NC_000004.12:g.54295199C>T	ExAC,TOPMed,gnomAD
rs1321102144	p.Ile1067Val	missense variant	-	NC_000004.12:g.54295201A>G	NCI-TCGA
rs1321102144	p.Ile1067Val	missense variant	-	NC_000004.12:g.54295201A>G	gnomAD
rs1346616192	p.Ile1067Thr	missense variant	-	NC_000004.12:g.54295202T>C	gnomAD
NCI-TCGA novel	p.Glu1068Lys	missense variant	-	NC_000004.12:g.54295204G>A	NCI-TCGA
RCV000471912	p.Asp1069Gly	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54295208A>G	ClinVar
rs372098007	p.Asp1069Gly	missense variant	-	NC_000004.12:g.54295208A>G	ESP,ExAC,TOPMed,gnomAD
RCV000633766	p.Ile1070Met	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54295212C>G	ClinVar
rs149498489	p.Ile1070Met	missense variant	-	NC_000004.12:g.54295212C>G	ESP,ExAC,TOPMed,gnomAD
rs770192760	p.Ile1070Val	missense variant	-	NC_000004.12:g.54295210A>G	ExAC,gnomAD
RCV000226955	p.Asp1071Asn	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54295213G>A	ClinVar
NCI-TCGA novel	p.Asp1071Gly	missense variant	-	NC_000004.12:g.54295214A>G	NCI-TCGA
rs376544204	p.Asp1071Asn	missense variant	-	NC_000004.12:g.54295213G>A	NCI-TCGA,NCI-TCGA Cosmic
rs376544204	p.Asp1071Asn	missense variant	-	NC_000004.12:g.54295213G>A	ESP,ExAC,TOPMed,gnomAD
rs376544204	p.Asp1071Asn	missense variant	-	NC_000004.12:g.54295213G>A	UniProt,dbSNP
VAR_042037	p.Asp1071Asn	missense variant	-	NC_000004.12:g.54295213G>A	UniProt
RCV000699914	p.Met1072Lys	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54295217T>A	ClinVar
rs1410475168	p.Met1072Ile	missense variant	-	NC_000004.12:g.54295218G>T	TOPMed
RCV000543893	p.Met1073Ter	frameshift	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54295220del	ClinVar
rs764405049	p.Met1073Thr	missense variant	-	NC_000004.12:g.54295220T>C	ExAC,TOPMed,gnomAD
rs751786947	p.Asp1074Gly	missense variant	-	NC_000004.12:g.54295223A>G	ExAC,TOPMed,gnomAD
RCV000633785	p.Asp1075Asn	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54295225G>A	ClinVar
rs767697835	p.Asp1075Asn	missense variant	-	NC_000004.12:g.54295225G>A	ExAC,TOPMed,gnomAD
rs767697835	p.Asp1075Asn	missense variant	-	NC_000004.12:g.54295225G>A	NCI-TCGA,NCI-TCGA Cosmic
rs750465940	p.Ile1076Val	missense variant	-	NC_000004.12:g.54295228A>G	ExAC,gnomAD
RCV000311959	p.Ile1076Met	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54295230C>G	ClinVar
RCV000468793	p.Ile1076Val	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54295228A>G	ClinVar
RCV000368950	p.Ile1076Met	missense variant	Idiopathic hypereosinophilic syndrome (HES)	NC_000004.12:g.54295230C>G	ClinVar
rs148629782	p.Ile1076Met	missense variant	-	NC_000004.12:g.54295230C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000556241	p.Gly1077Ser	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54295231G>A	ClinVar
rs752633017	p.Gly1077Ser	missense variant	-	NC_000004.12:g.54295231G>A	ExAC,gnomAD
rs752633017	p.Gly1077Cys	missense variant	-	NC_000004.12:g.54295231G>T	ExAC,gnomAD
RCV000695341	p.Asp1079Val	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54295238A>T	ClinVar
rs758298020	p.Asp1079Glu	missense variant	-	NC_000004.12:g.54295239C>G	ExAC,gnomAD
rs746673077	p.Ser1080Tyr	missense variant	-	NC_000004.12:g.54295241C>A	NCI-TCGA
rs777641634	p.Ser1080Pro	missense variant	-	NC_000004.12:g.54295240T>C	ExAC,TOPMed,gnomAD
rs746673077	p.Ser1080Tyr	missense variant	-	NC_000004.12:g.54295241C>A	ExAC,gnomAD
COSM1310133	p.Ser1081Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54295244C>T	NCI-TCGA Cosmic
RCV000633783	p.Asp1082Glu	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54295248C>A	ClinVar
COSM6167414	p.Asp1082Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54295247A>G	NCI-TCGA Cosmic
rs756955630	p.Asp1082Glu	missense variant	-	NC_000004.12:g.54295248C>A	ExAC,gnomAD
rs1246505091	p.Leu1083Met	missense variant	-	NC_000004.12:g.54295249C>A	TOPMed
COSM4125141	p.Val1084Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54295252G>A	NCI-TCGA Cosmic
rs780817756	p.Val1084Ala	missense variant	-	NC_000004.12:g.54295253T>C	ExAC
COSM246512	p.Glu1085Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54295255G>A	NCI-TCGA Cosmic
rs1205738556	p.Asp1086Glu	missense variant	-	NC_000004.12:g.54295260C>G	TOPMed
rs745334834	p.Phe1088Ile	missense variant	-	NC_000004.12:g.54295264T>A	ExAC,gnomAD
COSM1056089	p.Phe1088Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54295264T>G	NCI-TCGA Cosmic

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000744	Abetalipoproteinemia	disease	BEFREE
C0003873	Rheumatoid Arthritis	disease	BEFREE
C0004096	Asthma	disease	BEFREE
C0004106	Astigmatism	disease	GWASDB
C0004114	Astrocytoma	disease	BEFREE;LHGDN
C0004238	Atrial Fibrillation	disease	BEFREE
C0004364	Autoimmune Diseases	group	BEFREE
C0005684	Malignant neoplasm of urinary bladder	disease	BEFREE
C0005695	Bladder Neoplasm	group	BEFREE
C0006118	Brain Neoplasms	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0006287	Bronchopulmonary Dysplasia	disease	BEFREE
C0006413	Burkitt Lymphoma	disease	ORPHANET
C0007095	Carcinoid Tumor	group	LHGDN
C0007129	Merkel cell carcinoma	disease	BEFREE;LHGDN
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007140	Carcinosarcoma	disease	BEFREE
C0007196	Restrictive cardiomyopathy	disease	HPO
C0008487	Chordoma	disease	BEFREE
C0008626	Congenital chromosomal disease	group	BEFREE
C0008925	Cleft Palate	disease	CTD_human
C0009402	Colorectal Carcinoma	disease	BEFREE
C0009404	Colorectal Neoplasms	group	LHGDN
C0009806	Constipation	phenotype	HPO
C0010278	Craniosynostosis	disease	BEFREE;LHGDN
C0010701	Phyllodes Tumor	disease	BEFREE
C0010823	Cytomegalovirus Infections	group	BEFREE
C0010828	Cytopenia	phenotype	GENOMICS_ENGLAND
C0011168	Deglutition Disorders	group	HPO
C0013264	Muscular Dystrophy, Duchenne	disease	BEFREE
C0014175	Endometriosis	disease	BEFREE
C0014457	Eosinophilia	disease	BEFREE;HPO;LHGDN
C0014474	Ependymoma	disease	BEFREE
C0015230	Exanthema	phenotype	BEFREE
C0015672	Fatigue	phenotype	HPO
C0015923	Fetal Alcohol Syndrome	disease	BEFREE;PSYGENET
C0015927	Fetal Death	phenotype	CTD_human
C0016059	Fibrosis	phenotype	LHGDN
C0017181	Gastrointestinal Hemorrhage	phenotype	HPO
C0017185	Gastrointestinal Neoplasms	group	BEFREE
C0017636	Glioblastoma	disease	BEFREE;CGI;LHGDN
C0017638	Glioma	disease	BEFREE;LHGDN
C0018939	Hematological Disease	group	BEFREE
C0019209	Hepatomegaly	phenotype	HPO
C0019284	Diaphragmatic Hernia	phenotype	LHGDN;MGD
C0019559	Hip pain	phenotype	BEFREE
C0019621	Histiocytosis, Langerhans-Cell	disease	BEFREE
C0019829	Hodgkin Disease	disease	LHGDN
C0020538	Hypertensive disease	group	RGD
C0020981	Angioimmunoblastic Lymphadenopathy	disease	BEFREE
C0021841	Intestinal Neoplasms	group	BEFREE
C0021843	Intestinal Obstruction	disease	HPO
C0023267	Fibroid Tumor	group	BEFREE
C0023418	leukemia	disease	BEFREE;LHGDN
C0023448	Lymphoid leukemia	disease	BEFREE
C0023449	Acute lymphocytic leukemia	disease	BEFREE
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE;LHGDN
C0023470	Myeloid Leukemia	disease	BEFREE
C0023473	Myeloid Leukemia, Chronic	disease	BEFREE
C0023480	Leukemia, Myelomonocytic, Chronic	disease	BEFREE
C0023798	Lipoma	disease	BEFREE
C0023890	Liver Cirrhosis	disease	BEFREE
C0023893	Liver Cirrhosis, Experimental	disease	CTD_human
C0023895	Liver diseases	group	BEFREE
C0023903	Liver neoplasms	group	BEFREE
C0024115	Lung diseases	group	CTD_human
C0024121	Lung Neoplasms	group	LHGDN
C0024143	Lupus Nephritis	disease	BEFREE
C0024299	Lymphoma	group	BEFREE;LHGDN
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0024899	Mastocytosis	disease	BEFREE
C0025149	Medulloblastoma	disease	BEFREE;CTD_human;LHGDN
C0025202	melanoma	disease	BEFREE;CGI;CLINVAR
C0025286	Meningioma	disease	BEFREE
C0025312	Meningomyelocele	disease	LHGDN
C0026277	Mixed Salivary Gland Tumor	disease	BEFREE;LHGDN
C0026499	Monosomy	group	BEFREE
C0026769	Multiple Sclerosis	disease	BEFREE
C0027022	Myeloproliferative disease	group	BEFREE;HPO;LHGDN
C0027498	Nausea and vomiting	phenotype	HPO
C0027627	Neoplasm Metastasis	phenotype	BEFREE;LHGDN
C0027651	Neoplasms	group	BEFREE
C0027794	Neural Tube Defects	group	BEFREE;LHGDN
C0027819	Neuroblastoma	group	BEFREE
C0027830	neurofibroma	disease	BEFREE
C0027831	Neurofibromatosis 1	disease	BEFREE
C0028945	oligodendroglioma	disease	BEFREE
C0029408	Degenerative polyarthritis	disease	BEFREE
C0029422	Osteochondrodysplasias	group	BEFREE
C0029463	Osteosarcoma	disease	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0032584	polyps	phenotype	BEFREE
C0033578	Prostatic Neoplasms	group	LHGDN
C0033774	Pruritus	phenotype	HPO
C0034069	Pulmonary Fibrosis	disease	RGD
C0035238	Congenital abnormality of respiratory system	group	CTD_human
C0035412	Rhabdomyosarcoma	disease	BEFREE
C0036400	Scimitar Syndrome	disease	BEFREE
C0036421	Systemic Scleroderma	disease	BEFREE
C0038002	Splenomegaly	phenotype	HPO
C0038219	Status Dysraphicus	disease	CTD_human
C0038356	Stomach Neoplasms	group	BEFREE;HPO
C0038874	Supratentorial Neoplasms	group	BEFREE
C0040034	Thrombocytopenia	phenotype	BEFREE
C0041582	Ulcer	disease	BEFREE
C0042109	Urticaria	disease	HPO
C0042133	Uterine Fibroids	group	BEFREE
C0042487	Venous Thrombosis	phenotype	HPO
C0042900	Vitiligo	disease	BEFREE
C0079748	Precursor cell lymphoblastic lymphoma	disease	BEFREE
C0079772	T-Cell Lymphoma	disease	BEFREE
C0079774	Peripheral T-Cell Lymphoma	disease	BEFREE
C0079924	Oligohydramnios	phenotype	RGD
C0080178	Spina Bifida	disease	BEFREE;CTD_human;LHGDN
C0085669	Acute leukemia	disease	BEFREE
C0086025	Codependency	disease	BEFREE
C0149940	Sciatic Neuropathy	disease	RGD
C0151779	Cutaneous Melanoma	disease	CGI
C0152276	Granulocytic Sarcoma	disease	BEFREE
C0153567	Uterine Cancer	disease	BEFREE
C0157738	Chronic skin ulcer	disease	RGD
C0158995	Congenital anemia	disease	GENOMICS_ENGLAND
C0162678	Neurofibromatoses	group	BEFREE;HPO
C0162834	Hyperpigmentation	phenotype	HPO
C0178874	Tumor Progression	phenotype	BEFREE
C0205769	Myxopapillary ependymoma	disease	BEFREE
C0205833	Medullomyoblastoma	disease	CTD_human
C0206141	Idiopathic Hypereosinophilic Syndrome	disease	BEFREE;CTD_human
C0206142	Eosinophilic leukemia	disease	BEFREE;CTD_human
C0206143	Loeffler's Endocarditis	disease	CTD_human
C0206180	Ki-1+ Anaplastic Large Cell Lymphoma	disease	BEFREE
C0206182	Lymphomatoid Papulosis	disease	BEFREE
C0206623	Adenosquamous carcinoma	disease	BEFREE
C0206630	Endometrial Stromal Sarcoma	disease	LHGDN
C0206637	Mesenchymal Chondrosarcoma	disease	CTD_human
C0206655	Alveolar rhabdomyosarcoma	disease	BEFREE;LHGDN
C0206659	Embryonal Carcinoma	disease	BEFREE
C0206663	Neuroectodermal Tumor, Primitive	disease	BEFREE
C0206664	Teratocarcinoma	disease	BEFREE
C0206725	Subependymal Glioma	disease	BEFREE
C0206726	gliosarcoma	disease	BEFREE;LHGDN
C0206727	Nerve Sheath Tumors	group	BEFREE;LHGDN
C0206728	Plexiform Neurofibroma	disease	BEFREE
C0206754	Neuroendocrine Tumors	group	BEFREE
C0220668	Congenital contractural arachnodactyly	disease	BEFREE
C0221013	Mastocytosis, Systemic	disease	BEFREE;LHGDN
C0221436	Melanoderma (disorder)	disease	HPO
C0231528	Myalgia	phenotype	HPO
C0235896	Pulmonary Infiltrate	phenotype	HPO
C0235974	Pancreatic carcinoma	disease	BEFREE
C0237326	Dyschezia	phenotype	HPO
C0238114	Leiomyoma of esophagus	disease	BEFREE
C0238198	Gastrointestinal Stromal Tumors	group	BEFREE;CGI;CLINVAR;CTD_human;HPO;LHGDN;ORPHANET;UNIPROT
C0238463	Papillary thyroid carcinoma	disease	BEFREE
C0239946	Fibrosis, Liver	disease	BEFREE
C0259783	mixed gliomas	disease	BEFREE
C0262584	Carcinoma, Small Cell	disease	BEFREE
C0263662	Disseminated eosinophilic collagen disease	disease	BEFREE
C0264408	Childhood asthma	disease	BEFREE
C0266508	Rachischisis	disease	CTD_human
C0278510	Childhood Medulloblastoma	disease	CTD_human
C0278601	Inflammatory Breast Carcinoma	disease	BEFREE
C0278876	Adult Medulloblastoma	disease	CTD_human
C0278878	Adult Glioblastoma	disease	BEFREE
C0278883	Metastatic melanoma	disease	BEFREE;UNIPROT
C0279000	Liver and Intrahepatic Biliary Tract Carcinoma	disease	BEFREE
C0279546	Adult Undifferentiated Pleomorphic Sarcoma	disease	BEFREE
C0280100	Solid Neoplasm	phenotype	BEFREE
C0280474	Childhood Glioblastoma	disease	BEFREE
C0280785	Diffuse Astrocytoma	disease	BEFREE
C0334113	Eosinophilic granulomatous polyp	disease	BEFREE
C0334121	Inflammatory Myofibroblastic Tumor	disease	BEFREE
C0334463	Malignant Fibrous Histiocytoma	disease	BEFREE
C0334579	Anaplastic astrocytoma	disease	BEFREE
C0334590	Anaplastic Oligodendroglioma	disease	BEFREE
C0339682	Regular astigmatism - corneal	disease	BEFREE
C0341439	Chronic liver disease	group	BEFREE
C0345904	Malignant neoplasm of liver	disease	BEFREE
C0346202	Cervical Adenosquamous Carcinoma	disease	BEFREE
C0346421	Chronic eosinophilic leukemia	disease	BEFREE;ORPHANET
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0376544	Hematopoietic Neoplasms	group	BEFREE
C0376545	Hematologic Neoplasms	group	BEFREE
C0376634	Craniofacial Abnormalities	group	BEFREE;CTD_human
C0392514	Hereditary hemochromatosis	disease	BEFREE
C0392784	Dermatofibrosarcoma Protuberans	disease	BEFREE
C0410528	Skeletal dysplasia	disease	BEFREE
C0426870	Large hand	phenotype	HPO
C0431108	Anaplastic Oligoastrocytoma	disease	BEFREE
C0432412	Chromosome 8, trisomy	disease	BEFREE
C0497552	Congenital neurologic anomalies	group	HPO
C0521158	Recurrent tumor	phenotype	BEFREE
C0544799	Histiocytosis, generalized eruptive	disease	BEFREE
C0553980	Endomyocardial Fibrosis	phenotype	HPO
C0555198	Malignant Glioma	disease	BEFREE
C0585442	Osteosarcoma of bone	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0598766	Leukemogenesis	disease	BEFREE
C0598798	Lymphoid neoplasm	disease	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0677886	Epithelial ovarian cancer	disease	BEFREE
C0677936	Refractory cancer	phenotype	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0678236	Rare Diseases	group	BEFREE
C0684337	Ewings sarcoma-primitive neuroectodermal tumor (PNET)	disease	BEFREE
C0686619	Secondary malignant neoplasm of lymph node	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0699885	Carcinoma of bladder	disease	BEFREE
C0700095	Central neuroblastoma	disease	BEFREE
C0740392	Infarction, Middle Cerebral Artery	disease	RGD
C0744869	Metastatic hepatocellular carcinoma	disease	BEFREE
C0745091	Hypereosinophilia	disease	BEFREE
C0750974	Brain Tumor, Primary	disease	BEFREE
C0751291	Desmoplastic Medulloblastoma	disease	CTD_human
C0751396	Well Differentiated Oligodendroglioma	disease	BEFREE
C0751552	Malignant neoplasm of thymus	disease	BEFREE
C0751690	Malignant Peripheral Nerve Sheath Tumor	disease	BEFREE
C0854917	Rhabdoid Tumor of the Kidney	disease	BEFREE
C0919267	ovarian neoplasm	disease	BEFREE;LHGDN
C0948384	Cerebral hygroma	disease	BEFREE
C1168401	Squamous cell carcinoma of the head and neck	disease	BEFREE
C1261473	Sarcoma	group	BEFREE;GENOMICS_ENGLAND;HPO
C1262091	Lymphocytic infiltration	disease	BEFREE
C1275668	Melanotic medulloblastoma	disease	CTD_human
C1290854	Disorder of skull	group	BEFREE
C1291311	Deficiency of dehydrogenase	disease	BEFREE
C1292769	Precursor B-cell lymphoblastic leukemia	disease	ORPHANET
C1292772	Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative	disease	BEFREE
C1292778	Chronic myeloproliferative disorder	disease	BEFREE
C1302645	Polyp of small intestine	phenotype	BEFREE
C1306759	Eosinophilic disorder	group	BEFREE
C1332206	Adult Lymphoma	disease	BEFREE
C1332979	Childhood Lymphoma	disease	BEFREE
C1333500	Extragastrointestinal Gastrointestinal Stromal Tumor	disease	BEFREE
C1333768	Gastric Gastrointestinal Stromal Tumor	disease	BEFREE
C1334699	Mesenchymal Cell Neoplasm	disease	BEFREE
C1368871	Pediatric Neoplasm	group	BEFREE
C1458155	Mammary Neoplasms	group	BEFREE;LHGDN
C1512409	Hepatocarcinogenesis	disease	BEFREE
C1514422	Glioblastoma, IDH-Wildtype	disease	BEFREE
C1519214	Glioblastoma, IDH-Mutant	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1527390	Neoplasms, Intracranial	group	BEFREE
C1540912	Hypereosinophilic syndrome	disease	BEFREE;CGI;CTD_human;LHGDN
C1611743	Familial (FPAH)	disease	BEFREE
C1621958	Glioblastoma Multiforme	disease	BEFREE;UNIPROT
C1704327	Bone Sarcoma	disease	BEFREE
C1708550	Intimal sarcoma	disease	BEFREE
C1836296	Lower limb muscle weakness	phenotype	BEFREE
C1837218	Cleft palate, isolated	disease	BEFREE;CTD_human
C1847319	PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA	disease	BEFREE
C1847835	VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	disease	BEFREE
C1858592	Carney Triad	disease	BEFREE
C1882062	Neoplastic disease	group	BEFREE
C1961102	Precursor Cell Lymphoblastic Leukemia Lymphoma	disease	BEFREE;LHGDN
C2239176	Liver carcinoma	disease	BEFREE
C2674636	GASTROINTESTINAL STROMAL TUMOR, FAMILIAL	phenotype	CLINVAR
C2827356	Myeloid and Lymphoid Neoplasms with Eosinophilia and Rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2	disease	BEFREE
C2853920	Lymphoblastic T-cell lymphoma	disease	BEFREE
C2939419	Secondary Neoplasm	group	BEFREE
C2939461	Myeloid neoplasm	disease	BEFREE
C2985290	Fetal Alcohol Spectrum Disorders	group	BEFREE;PSYGENET
C2986658	Diffuse Intrinsic Pontine Glioma	disease	BEFREE
C3150773	CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME	disease	BEFREE
C3179349	Gastrointestinal Stromal Sarcoma	disease	BEFREE;CTD_human;ORPHANET
C3203102	Idiopathic pulmonary arterial hypertension	disease	BEFREE
C3539878	Triple Negative Breast Neoplasms	disease	BEFREE
C3693482	Giant Cell Fibroblastoma	disease	BEFREE
C3714514	Infection	group	LHGDN
C3811653	Experimental Organism Basal Cell Carcinoma	phenotype	BEFREE
C3828464	Proneural Glioblastoma	disease	BEFREE
C3853548	Pdgfra-Associated Chronic Eosinophilic Leukemia	disease	BEFREE
C3887678	Central Nervous System Embryonal Tumor, Not Otherwise Specified	disease	BEFREE
C4016331	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	phenotype	CLINVAR
C4020813	Increased gastric cancer	phenotype	HPO
C4531023	Brain and/or spinal cord issue	phenotype	HPO
C4545381	Myeloid and/or lymphoid neoplasm associated with platelet derived growth factor receptor alpha rearrangement	disease	ORPHANET

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004672	protein kinase activity	IDA
GO:0004714	transmembrane receptor protein tyrosine kinase activity	IDA
GO:0004714	transmembrane receptor protein tyrosine kinase activity	IBA
GO:0005018	platelet-derived growth factor alpha-receptor activity	IDA
GO:0005018	platelet-derived growth factor alpha-receptor activity	IBA
GO:0005018	platelet-derived growth factor alpha-receptor activity	IMP
GO:0005021	vascular endothelial growth factor-activated receptor activity	IDA
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:0038085	vascular endothelial growth factor binding	IPI
GO:0042803	protein homodimerization activity	IDA
GO:0044877	protein-containing complex binding	IEA
GO:0048407	platelet-derived growth factor binding	IPI
GO:0048407	platelet-derived growth factor binding	IBA
GO:0048407	platelet-derived growth factor binding	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000165	MAPK cascade	TAS
GO:0001553	luteinization	ISS
GO:0001701	in utero embryonic development	IEA
GO:0001775	cell activation	TAS
GO:0002244	hematopoietic progenitor cell differentiation	IBA
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	IBA
GO:0007204	positive regulation of cytosolic calcium ion concentration	IMP
GO:0007275	multicellular organism development	IBA
GO:0008210	estrogen metabolic process	IEA
GO:0008284	positive regulation of cell population proliferation	IDA
GO:0008284	positive regulation of cell population proliferation	IMP
GO:0010544	negative regulation of platelet activation	IDA
GO:0010863	positive regulation of phospholipase C activity	IMP
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	TAS
GO:0016032	viral process	IEA
GO:0018108	peptidyl-tyrosine phosphorylation	IDA
GO:0023019	signal transduction involved in regulation of gene expression	IEA
GO:0030198	extracellular matrix organization	IEA
GO:0030324	lung development	IEA
GO:0030325	adrenal gland development	IEA
GO:0030335	positive regulation of cell migration	IMP
GO:0030335	positive regulation of cell migration	IDA
GO:0030539	male genitalia development	IEA
GO:0033327	Leydig cell differentiation	IEA
GO:0033674	positive regulation of kinase activity	IBA
GO:0034614	cellular response to reactive oxygen species	IDA
GO:0035790	platelet-derived growth factor receptor-alpha signaling pathway	IMP
GO:0038091	positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway	IDA
GO:0042060	wound healing	ISS
GO:0042475	odontogenesis of dentin-containing tooth	IEA
GO:0043552	positive regulation of phosphatidylinositol 3-kinase activity	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	IDA
GO:0048557	embryonic digestive tract morphogenesis	ISS
GO:0048701	embryonic cranial skeleton morphogenesis	ISS
GO:0048704	embryonic skeletal system morphogenesis	ISS
GO:0050920	regulation of chemotaxis	IMP
GO:0051897	positive regulation of protein kinase B signaling	TAS
GO:0055003	cardiac myofibril assembly	ISS
GO:0060021	roof of mouth development	IEA
GO:0060325	face morphogenesis	IEA
GO:0060326	cell chemotaxis	IMP
GO:0061298	retina vasculature development in camera-type eye	ISS
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IMP
GO:0070527	platelet aggregation	IMP
GO:0071230	cellular response to amino acid stimulus	IEA
GO:0072277	metanephric glomerular capillary formation	ISS
GO:2000249	regulation of actin cytoskeleton reorganization	TAS
GO:2000739	regulation of mesenchymal stem cell differentiation	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005623	cell	IEA
GO:0005634	nucleus	ISS
GO:0005654	nucleoplasm	IDA
GO:0005737	cytoplasm	ISS
GO:0005794	Golgi apparatus	ISS
GO:0005886	plasma membrane	IDA
GO:0005886	plasma membrane	TAS
GO:0005887	integral component of plasma membrane	IBA
GO:0005887	integral component of plasma membrane	IDA
GO:0005902	microvillus	IEA
GO:0005929	cilium	ISS
GO:0009897	external side of plasma membrane	IEA
GO:0016020	membrane	HDA
GO:0030054	cell junction	IDA
GO:0031226	intrinsic component of plasma membrane	IDA
GO:0032991	protein-containing complex	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
C016780	11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid	[Cannabinoids results in increased abundance of 11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid] which affects the methylation of PDGFRA gene	30521419
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of PDGFRA mRNA	28628672
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of PDGFRA mRNA	28628672
D015058	1-Naphthylisothiocyanate	1-Naphthylisothiocyanate results in increased expression of PDGFRA mRNA	25380136
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 PDGFRA mRNA	19422813
C029790	2,2',3',4,4',5-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of PDGFRA mRNA	25510870
C511295	2,2',4,4'-tetrabromodiphenyl ether	2,2',4,4'-tetrabromodiphenyl ether results in decreased expression of PDGFRA mRNA	25614096
C081766	2,4,4'-trichlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of PDGFRA mRNA	25510870
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of PDGFRA mRNA	25510870
C009828	2,4,5,2',5'-pentachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of PDGFRA mRNA	25510870
C009407	2,5,2',5'-tetrachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of PDGFRA mRNA	25510870
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene results in decreased expression of PDGFRA mRNA	20406850
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in decreased expression of PDGFRA mRNA	28973690
C583074	4,4'-hexafluorisopropylidene diphenol	4,4'-hexafluorisopropylidene diphenol results in decreased expression of PDGFRA mRNA	25912373
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PDGFRA mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PDGFRA mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PDGFRA mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PDGFRA mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PDGFRA mRNA	27188386
C029370	4-toluidine	4-toluidine results in decreased expression of PDGFRA mRNA	27638505
C012606	4-vinyl-1-cyclohexene dioxide	4-vinyl-1-cyclohexene dioxide affects the expression of PDGFRA mRNA	20829426
C561052	5H-benzo(4,5)cyclohepta(1,2-b)pyridin-5-one	5H-benzo(4,5)cyclohepta(1,2-b)pyridin-5-one results in decreased activity of PDGFRA protein	21608528
C106250	6,7-dimethoxy-3-phenylquinoxaline	6,7-dimethoxy-3-phenylquinoxaline inhibits the reaction [tricarbonyldichlororuthenium (II) dimer results in increased phosphorylation of PDGFRA protein]	26385185
C507011	A-83-01	[IGF1 protein co-treated with MM-589 co-treated with A-83-01 co-treated with PTC-209] results in decreased expression of PDGFRA mRNA	31023824
C496492	abrine	abrine results in increased expression of PDGFRA mRNA	31054353
D000082	Acetaminophen	Acetaminophen affects the expression of PDGFRA mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of PDGFRA mRNA	28943387
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of PDGFRA gene	27153756
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 PDGFRA mRNA	19422813
D000517	alpha-Chlorohydrin	alpha-Chlorohydrin results in increased expression of PDGFRA mRNA	28522335
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of PDGFRA mRNA	16483693
D001151	Arsenic	Arsenic results in increased methylation of PDGFRA promoter	21291286
C015001	arsenite	arsenite results in increased methylation of PDGFRA promoter	23974009
D017632	Asbestos, Serpentine	Asbestos, Serpentine results in decreased expression of PDGFRA mRNA	16251409
D001397	Azoxymethane	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of PDGFRA mRNA	29950665
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased methylation of PDGFRA promoter	28329817
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of PDGFRA mRNA	22316170
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of PDGFRA mRNA	22610609
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in decreased expression of PDGFRA mRNA	25912373
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of PDGFRA mRNA	30951980
C006780	bisphenol A	bisphenol A results in increased expression of PDGFRA mRNA	30248606
C006780	bisphenol A	bisphenol A results in increased methylation of PDGFRA intron	30906313
C006780	bisphenol A	bisphenol A results in increased expression of PDGFRA mRNA	29275510
C006780	bisphenol A	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of PDGFRA mRNA	28628672
C006780	bisphenol A	[bisphenol A co-treated with Tretinoin] results in decreased expression of PDGFRA mRNA	30951980
C006780	bisphenol A	bisphenol A affects the expression of PDGFRA mRNA	25181051
C006780	bisphenol A	bisphenol A results in decreased expression of PDGFRA mRNA	25084756; 30816183;
C006780	bisphenol A	bisphenol A results in decreased expression of PDGFRA protein	25084756
C006780	bisphenol A	bisphenol A results in increased expression of PDGFRA mRNA	12604637
C006780	bisphenol A	bisphenol A results in increased expression of PDGFRA protein	12604637
C000611646	bisphenol F	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of PDGFRA mRNA	28628672
C000611646	bisphenol F	[bisphenol F co-treated with Tretinoin] results in decreased expression of PDGFRA mRNA	30951980
C000611646	bisphenol F	bisphenol F results in increased expression of PDGFRA mRNA	30951980
D002104	Cadmium	[Cadmium Chloride results in increased abundance of Cadmium] which results in decreased expression of PDGFRA mRNA	29741670
D002104	Cadmium	Cadmium results in increased phosphorylation of PDGFRA protein	17125913
D002104	Cadmium	Fulvestrant inhibits the reaction [Cadmium results in increased phosphorylation of PDGFRA protein]	17125913
D019256	Cadmium Chloride	[Cadmium Chloride results in increased abundance of Cadmium] which results in decreased expression of PDGFRA mRNA	29741670
D019256	Cadmium Chloride	Cadmium Chloride results in increased phosphorylation of PDGFRA protein	17125913
D019256	Cadmium Chloride	Fulvestrant inhibits the reaction [Cadmium Chloride results in increased phosphorylation of PDGFRA protein]	17125913
D019256	Cadmium Chloride	[Methylnitronitrosoguanidine co-treated with Cadmium Chloride] results in decreased expression of PDGFRA mRNA	19840844
D002186	Cannabinoids	[Cannabinoids results in increased abundance of 11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid] which affects the methylation of PDGFRA gene	30521419
D002235	Carbofuran	Carbofuran results in decreased expression of PDGFRA mRNA	30471306
D002235	Carbofuran	Carbofuran results in decreased expression of PDGFRA protein	30471306
D002251	Carbon Tetrachloride	Carbon Tetrachloride affects the expression of PDGFRA mRNA	17484886
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of PDGFRA mRNA	16239168
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of PDGFRA mRNA	20548288; 20938992;
C074702	chromium hexavalent ion	chromium hexavalent ion affects the expression of PDGFRA mRNA	28472532
D002945	Cisplatin	Cisplatin affects the expression of PDGFRA mRNA	23300844
D002945	Cisplatin	Cisplatin results in decreased expression of PDGFRA mRNA	21151649
D003300	Copper	[NSC 689534 binds to Copper] which results in decreased expression of PDGFRA mRNA	20971185
D003375	Coumestrol	Coumestrol results in increased expression of PDGFRA mRNA	12604637
D003375	Coumestrol	Coumestrol results in increased expression of PDGFRA protein	12604637
C461979	CT52923	CT52923 binds to and results in decreased activity of PDGFRA protein	15994924
D003471	Cuprizone	[Estradiol co-treated with Progesterone co-treated with Cuprizone] results in increased expression of PDGFRA mRNA	19031445
C057862	cyanoginosin LR	cyanoginosin LR results in increased expression of PDGFRA mRNA	17654400
D016572	Cyclosporine	Cyclosporine results in decreased expression of PDGFRA mRNA	27989131
C515055	darinaparsin	darinaparsin results in increased expression of PDGFRA mRNA	22535156
D000069439	Dasatinib	Dasatinib results in decreased phosphorylation of PDGFRA protein mutant form	18619723
D003634	DDT	DDT results in increased expression of PDGFRA mRNA	30207508
D000077209	Decitabine	Decitabine affects the expression of PDGFRA mRNA	23300844
D003871	Dermatan Sulfate	Dermatan Sulfate results in decreased expression of PDGFRA mRNA	16945567
D003907	Dexamethasone	Dexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of PDGFRA mRNA]	27941970
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of PDGFRA mRNA	28628672
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of PDGFRA mRNA	28628672
D003907	Dexamethasone	Dexamethasone results in increased expression of PDGFRA mRNA	22733784
D016264	Dextran Sulfate	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of PDGFRA mRNA	29950665
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of PDGFRA mRNA	21266533
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of PDGFRA mRNA	24893172
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 PDGFRA mRNA	19422813
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 PDGFRA mRNA	19422813
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 PDGFRA mRNA	19422813
D004041	Dietary Fats	[Dietary Fats co-treated with Dietary Sucrose] results in decreased expression of PDGFRA mRNA	27070252
D004041	Dietary Fats	Resveratrol inhibits the reaction [[Dietary Fats co-treated with Dietary Sucrose] results in decreased expression of PDGFRA mRNA]	27070252
D019422	Dietary Sucrose	[Dietary Fats co-treated with Dietary Sucrose] results in decreased expression of PDGFRA mRNA	27070252
D019422	Dietary Sucrose	Resveratrol inhibits the reaction [[Dietary Fats co-treated with Dietary Sucrose] results in decreased expression of PDGFRA mRNA]	27070252
D004051	Diethylhexyl Phthalate	[Diethylhexyl Phthalate co-treated with Genistein] results in decreased expression of PDGFRA mRNA	25031359
D004051	Diethylhexyl Phthalate	[Diethylhexyl Phthalate co-treated with Genistein] results in decreased expression of PDGFRA protein	25031359
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of PDGFRA mRNA	25031359
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of PDGFRA protein	25031359
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with Phenobarbital] results in decreased expression of PDGFRA mRNA	24535843
D004052	Diethylnitrosamine	Diethylnitrosamine results in decreased expression of PDGFRA mRNA	24535843
D004054	Diethylstilbestrol	Diethylstilbestrol results in increased expression of PDGFRA mRNA	12604637
D004054	Diethylstilbestrol	Diethylstilbestrol results in increased expression of PDGFRA protein	12604637
D004128	Dimethylnitrosamine	Dimethylnitrosamine results in decreased expression of PDGFRA mRNA	25380136
D004147	Dioxins	Dioxins affects the expression of PDGFRA mRNA	20463971
D004221	Disulfiram	Disulfiram results in decreased expression of PDGFRA mRNA	20530235
D004237	Diuron	Diuron results in decreased expression of PDGFRA mRNA	25152437
D004237	Diuron	Diuron results in increased expression of PDGFRA mRNA	21551480
C516138	dorsomorphin	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PDGFRA mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PDGFRA mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PDGFRA mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PDGFRA mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PDGFRA mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of PDGFRA mRNA	29803840
D004726	Endosulfan	Endosulfan results in decreased expression of PDGFRA mRNA	29391264
D004958	Estradiol	Estradiol affects the expression of PDGFRA mRNA	15598610
D004958	Estradiol	[Estradiol co-treated with Progesterone co-treated with Cuprizone] results in increased expression of PDGFRA mRNA	19031445
D004958	Estradiol	Estradiol results in increased expression of PDGFRA mRNA	19484750
D000431	Ethanol	Ethanol affects the splicing of PDGFRA mRNA	30319688
D000431	Ethanol	Ethanol results in increased expression of PDGFRA mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of PDGFRA mRNA	17557909
C024565	ethylene dichloride	ethylene dichloride results in increased expression of PDGFRA mRNA	28189721
D005485	Flutamide	Flutamide results in decreased expression of PDGFRA mRNA	21126777
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of PDGFRA mRNA	20548288; 20938992;
D005557	Formaldehyde	Formaldehyde results in increased expression of PDGFRA mRNA	18045764
D000077267	Fulvestrant	Fulvestrant inhibits the reaction [Cadmium Chloride results in increased phosphorylation of PDGFRA protein]	17125913
D000077267	Fulvestrant	Fulvestrant inhibits the reaction [Cadmium results in increased phosphorylation of PDGFRA protein]	17125913
C039281	furan	furan results in decreased methylation of PDGFRA gene	27387713
C039281	furan	furan results in increased expression of PDGFRA mRNA	27387713
D005665	Furosemide	Furosemide affects the expression of PDGFRA mRNA	16526316
D019833	Genistein	Genistein results in decreased expression of PDGFRA mRNA	22228119
D019833	Genistein	[Diethylhexyl Phthalate co-treated with Genistein] results in decreased expression of PDGFRA mRNA	25031359
D019833	Genistein	[Diethylhexyl Phthalate co-treated with Genistein] results in decreased expression of PDGFRA protein	25031359
D019833	Genistein	Genistein results in decreased expression of PDGFRA mRNA	25031359
D019833	Genistein	Genistein results in decreased expression of PDGFRA protein	25031359
D019833	Genistein	Genistein results in increased expression of PDGFRA mRNA	12604637
D019833	Genistein	Genistein results in increased expression of PDGFRA protein	12604637
D005947	Glucose	[INS protein co-treated with Glucose] results in increased expression of PDGFRA mRNA	22634610
C010176	halofuginone	halofuginone results in increased expression of PDGFRA mRNA	17180598
D006493	Heparin	Heparin results in decreased expression of PDGFRA mRNA	16945567
C538724	HhAntag691	[GLI1 mRNA co-treated with GLI2 mRNA] affects the reaction [HhAntag691 results in decreased expression of PDGFRA protein]	22087285
C538724	HhAntag691	HhAntag691 results in decreased expression of PDGFRA protein	22087285
D006861	Hydrogen Peroxide	Hydrogen Peroxide results in decreased expression of PDGFRA mRNA	17997286
D006861	Hydrogen Peroxide	Sodium Selenite inhibits the reaction [Hydrogen Peroxide results in decreased expression of PDGFRA mRNA]	17997286
D006861	Hydrogen Peroxide	[nitrofen results in increased expression of [PDGFA protein co-treated with PDGFRA protein]] which results in increased abundance of Hydrogen Peroxide	20920717
D000068877	Imatinib Mesylate	[FIP1L1 gene mutant form binds to PDGFRA gene mutant form] which results in increased susceptibility to Imatinib Mesylate	28347583
D000068877	Imatinib Mesylate	Imatinib Mesylate results in decreased expression of PDGFRA protein	15786421; 17614352;
D000068877	Imatinib Mesylate	Imatinib Mesylate results in decreased expression of PDGFRA protein modified form	17614352
D000068877	Imatinib Mesylate	Progesterone promotes the reaction [Imatinib Mesylate results in decreased expression of PDGFRA protein]	17614352
D000068877	Imatinib Mesylate	Progesterone promotes the reaction [Imatinib Mesylate results in decreased expression of PDGFRA protein modified form]	17614352
D000068877	Imatinib Mesylate	Imatinib Mesylate results in decreased expression of PDGFRA protein	22447953
C545476	incobotulinumtoxinA	incobotulinumtoxinA results in increased expression of PDGFRA mRNA	29522793
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of PDGFRA mRNA	28628672
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of PDGFRA mRNA	28628672
D007213	Indomethacin	Indomethacin results in increased expression of PDGFRA mRNA	17440234
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of PDGFRA mRNA	25961927
D007854	Lead	CBL protein affects the reaction [Lead results in decreased expression of PDGFRA protein]	17298174
D007854	Lead	FYN protein affects the reaction [Lead results in decreased expression of PDGFRA protein]	17298174
D007854	Lead	Lead results in decreased expression of and results in decreased phosphorylation of and results in decreased activity of PDGFRA protein	17298174
C008261	lead acetate	CBL protein affects the reaction [lead acetate results in decreased expression of PDGFRA protein]	17298174
C008261	lead acetate	FYN protein affects the reaction [lead acetate results in decreased expression of PDGFRA protein]	17298174
C008261	lead acetate	lead acetate results in decreased expression of and results in decreased phosphorylation of and results in decreased activity of PDGFRA protein	17298174
D000077339	Leflunomide	Leflunomide results in increased expression of PDGFRA mRNA	24136188
D008148	Lovastatin	Lovastatin results in decreased expression of PDGFRA mRNA	20578043
D008344	Maneb	[Maneb co-treated with Paraquat] results in increased expression of PDGFRA mRNA	23963992
D008344	Maneb	Melatonin inhibits the reaction [[Maneb co-treated with Paraquat] results in increased expression of PDGFRA mRNA]	23963992
D008550	Melatonin	Melatonin inhibits the reaction [[Maneb co-treated with Paraquat] results in increased expression of PDGFRA mRNA]	23963992
D008694	Methamphetamine	Methamphetamine results in decreased expression of PDGFRA mRNA	29802913
D008694	Methamphetamine	Methamphetamine results in decreased expression of PDGFRA mRNA	28619521
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of PDGFRA mRNA	20548288; 20938992;
D008767	Methylmercury Compounds	Methylmercury Compounds results in decreased expression of PDGFRA protein	17298174
D008767	Methylmercury Compounds	CBL protein affects the reaction [Methylmercury Compounds results in increased ubiquitination of and results in increased degradation of PDGFRA protein]	17298174
D008767	Methylmercury Compounds	FYN protein affects the reaction [Methylmercury Compounds results in increased ubiquitination of and results in increased degradation of PDGFRA protein]	17298174
D008767	Methylmercury Compounds	Methylmercury Compounds results in decreased expression of and results in decreased phosphorylation of and results in decreased activity of PDGFRA protein	17298174
D008767	Methylmercury Compounds	Methylmercury Compounds results in increased ubiquitination of and results in increased degradation of PDGFRA protein	17298174
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of PDGFRA mRNA	26011545
D008769	Methylnitronitrosoguanidine	[Methylnitronitrosoguanidine co-treated with Cadmium Chloride] results in decreased expression of PDGFRA mRNA	19840844
D008769	Methylnitronitrosoguanidine	[Methylnitronitrosoguanidine co-treated with Okadaic Acid] results in decreased expression of PDGFRA mRNA	19840844
D008769	Methylnitronitrosoguanidine	[Methylnitronitrosoguanidine co-treated with Tetradecanoylphorbol Acetate] results in decreased expression of PDGFRA mRNA	19840844
D015735	Mifepristone	Mifepristone results in decreased expression of PDGFRA mRNA	25972201
C000621807	MM-589	[IGF1 protein co-treated with MM-589 co-treated with A-83-01 co-treated with PTC-209] results in decreased expression of PDGFRA mRNA	31023824
C016599	mono-(2-ethylhexyl)phthalate	mono-(2-ethylhexyl)phthalate results in increased expression of PDGFRA mRNA	31059758
C406082	monomethylarsonous acid	monomethylarsonous acid results in increased expression of PDGFRA mRNA	22108045; 25177542;
C523799	MRK 003	MRK 003 results in decreased expression of PDGFRA mRNA	21169257
D009151	Mustard Gas	Mustard Gas results in increased expression of PDGFRA mRNA	18988085
D037742	Nanotubes, Carbon	Nanotubes, Carbon affects the expression of PDGFRA mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of PDGFRA mRNA	25554681
C017096	n-butoxyethanol	n-butoxyethanol results in decreased expression of PDGFRA mRNA	19812364
C007350	nitrofen	[nitrofen results in increased expression of [PDGFA protein co-treated with PDGFRA protein]] which results in increased abundance of Hydrogen Peroxide	20920717
C007350	nitrofen	nitrofen results in increased expression of PDGFRA mRNA	20920717
C007350	nitrofen	nitrofen results in increased expression of PDGFRA protein	20920717
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in decreased expression of PDGFRA mRNA	26251327
C572573	N-nitroso-tris-chloroethylurea	[N-nitroso-tris-chloroethylurea co-treated with Pioglitazone] results in decreased expression of PDGFRA mRNA	27935865
C558013	NSC 689534	[NSC 689534 binds to Copper] which results in decreased expression of PDGFRA mRNA	20971185
C025589	ochratoxin A	ochratoxin A results in decreased expression of PDGFRA mRNA	21703336
C025589	ochratoxin A	SHH protein modified form inhibits the reaction [ochratoxin A results in decreased expression of PDGFRA mRNA]	21703336
D019319	Okadaic Acid	[Methylnitronitrosoguanidine co-treated with Okadaic Acid] results in decreased expression of PDGFRA mRNA	19840844
D010098	Oxycodone	Oxycodone results in increased expression of PDGFRA protein	26377394
D010100	Oxygen	Oxygen deficiency results in increased expression of PDGFRA mRNA	24205000
D010100	Oxygen	Oxygen deficiency results in increased expression of PDGFRA mRNA	26476374
D010100	Oxygen	Quercetin inhibits the reaction [Oxygen deficiency results in increased expression of PDGFRA mRNA]	26476374
D000077767	Panobinostat	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PDGFRA mRNA	27188386
D000077767	Panobinostat	Panobinostat results in increased expression of PDGFRA mRNA	26272509
D010269	Paraquat	[Maneb co-treated with Paraquat] results in increased expression of PDGFRA mRNA	23963992
D010269	Paraquat	Melatonin inhibits the reaction [[Maneb co-treated with Paraquat] results in increased expression of PDGFRA mRNA]	23963992
D010269	Paraquat	Paraquat results in increased expression of PDGFRA mRNA	21371552
D010269	Paraquat	Paraquat results in increased expression of PDGFRA mRNA alternative form	17215068
D010269	Paraquat	CBL protein affects the reaction [Paraquat results in decreased expression of PDGFRA protein]	17298174
D010269	Paraquat	FYN protein affects the reaction [Paraquat results in decreased expression of PDGFRA protein]	17298174
D010269	Paraquat	Paraquat affects the expression of PDGFRA mRNA	16854511
D010269	Paraquat	Paraquat results in decreased expression of and results in decreased phosphorylation of and results in decreased activity of PDGFRA protein	17298174
D052638	Particulate Matter	Particulate Matter results in increased expression of PDGFRA mRNA	17987463
D052638	Particulate Matter	[PDGFRA gene mutant form affects the susceptibility to Particulate Matter] which results in decreased expression of PDGFRA mRNA	21222557; 21222557;
C516667	pazopanib	pazopanib results in decreased activity of PDGFRA protein	19956806; 20616376;
C410127	PCB 180	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of PDGFRA mRNA	25510870
C046012	pentanal	pentanal results in increased expression of PDGFRA mRNA	26079696
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of PDGFRA mRNA	19162173
D010634	Phenobarbital	[Diethylnitrosamine co-treated with Phenobarbital] results in decreased expression of PDGFRA mRNA	24535843
D010634	Phenobarbital	Phenobarbital affects the expression of PDGFRA mRNA	23091169
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PDGFRA mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of PDGFRA mRNA	26272509
D010671	Phenylurea Compounds	Phenylurea Compounds results in decreased activity of PDGFRA protein	18343900
D000077205	Pioglitazone	[N-nitroso-tris-chloroethylurea co-treated with Pioglitazone] results in decreased expression of PDGFRA mRNA	27935865
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of PDGFRA mRNA	19710929
C006253	pirinixic acid	pirinixic acid results in increased expression of PDGFRA mRNA	12832660
C545373	ponatinib	ponatinib analog results in decreased activity of PDGFRA protein	21561767
C545373	ponatinib	ponatinib results in decreased activity of PDGFRA protein	19878872
C545373	ponatinib	ponatinib results in decreased activity of PDGFRA protein mutant form	19878872
C545373	ponatinib	ponatinib results in decreased phosphorylation of PDGFRA protein mutant form	21482694
C545373	ponatinib	ponatinib affects the activity of PDGFRA protein mutant form	22301675
D011192	Potassium Dichromate	Potassium Dichromate results in increased expression of PDGFRA mRNA	23608068
D011374	Progesterone	Progesterone promotes the reaction [Imatinib Mesylate results in decreased expression of PDGFRA protein]	17614352
D011374	Progesterone	Progesterone promotes the reaction [Imatinib Mesylate results in decreased expression of PDGFRA protein modified form]	17614352
D011374	Progesterone	[Progesterone results in increased secretion of [VEGFA protein binds to VEGFA protein]] which results in increased phosphorylation of PDGFRA protein	16888808
D011374	Progesterone	[Estradiol co-treated with Progesterone co-treated with Cuprizone] results in increased expression of PDGFRA mRNA	19031445
D011374	Progesterone	Progesterone results in increased expression of PDGFRA mRNA	22238285
C005556	propionaldehyde	propionaldehyde results in increased expression of PDGFRA mRNA	26079696
D011441	Propylthiouracil	Propylthiouracil results in increased expression of PDGFRA mRNA	24780913
D047428	Protein Kinase Inhibitors	Protein Kinase Inhibitors inhibits the reaction [tricarbonyldichlororuthenium (II) dimer results in increased phosphorylation of PDGFRA protein]	26385185
C586999	PTC-209	[IGF1 protein co-treated with MM-589 co-treated with A-83-01 co-treated with PTC-209] results in decreased expression of PDGFRA mRNA	31023824
D011794	Quercetin	Quercetin inhibits the reaction [Oxygen deficiency results in increased expression of PDGFRA mRNA]	26476374
D020849	Raloxifene Hydrochloride	Raloxifene Hydrochloride affects the expression of PDGFRA mRNA	14699072
D000077185	Resveratrol	Resveratrol inhibits the reaction [[Dietary Fats co-treated with Dietary Sucrose] results in decreased expression of PDGFRA mRNA]	27070252
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of PDGFRA mRNA	25895662
D012834	Silver	Silver results in decreased expression of PDGFRA mRNA	27131904
D019821	Simvastatin	Simvastatin results in decreased expression of PDGFRA mRNA	16414398
C009277	sodium arsenate	sodium arsenate results in increased expression of PDGFRA mRNA	21795629
D012965	Sodium Chloride	Sodium Chloride results in increased expression of PDGFRA mRNA	23634900
D018038	Sodium Selenite	Sodium Selenite inhibits the reaction [Hydrogen Peroxide results in decreased expression of PDGFRA mRNA]	17997286
D018038	Sodium Selenite	Sodium Selenite results in decreased expression of PDGFRA mRNA	18209489
D000077157	Sorafenib	Sorafenib results in decreased phosphorylation of PDGFRA protein mutant form	21482694
D013311	Streptozocin	Streptozocin results in decreased expression of PDGFRA mRNA	26073000
D000077210	Sunitinib	Sunitinib results in decreased expression of PDGFRA mRNA	31533062
D000077210	Sunitinib	Sunitinib results in decreased phosphorylation of PDGFRA protein mutant form	21482694
D000077210	Sunitinib	Sunitinib results in decreased activity of PDGFRA protein	20616376
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of PDGFRA mRNA	31299295
D016559	Tacrolimus	Tacrolimus results in increased expression of PDGFRA mRNA	29362864
C557331	TAK-875	TAK-875 results in increased expression of PDGFRA mRNA	30243991
D013629	Tamoxifen	Tamoxifen results in increased expression of PDGFRA mRNA	24769059
D013749	Tetrachlorodibenzodioxin	SRC protein promotes the reaction [Tetrachlorodibenzodioxin results in increased expression of PDGFRA mRNA]	14708085
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of PDGFRA mRNA	21570461
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of PDGFRA mRNA	14708085; 17586704; 26139165;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of PDGFRA mRNA	22298810
D013755	Tetradecanoylphorbol Acetate	[Methylnitronitrosoguanidine co-treated with Tetradecanoylphorbol Acetate] results in decreased expression of PDGFRA mRNA	19840844
D019284	Thapsigargin	Thapsigargin results in decreased expression of PDGFRA mRNA	22378314
D013893	Thiram	Thiram results in decreased expression of PDGFRA mRNA	20530235
C009495	titanium dioxide	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of PDGFRA mRNA	29950665
C009495	titanium dioxide	titanium dioxide results in decreased expression of PDGFRA mRNA	23557971; 29264374;
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of PDGFRA mRNA	20133372
D014118	Toxins, Biological	Toxins, Biological affects the expression of PDGFRA mRNA	19682533
C496197	trans-10,cis-12-conjugated linoleic acid	trans-10,cis-12-conjugated linoleic acid results in decreased expression of PDGFRA mRNA	17951470
D014212	Tretinoin	Tretinoin results in increased expression of PDGFRA mRNA	21934132; 23724009;
D014212	Tretinoin	[bisphenol A co-treated with Tretinoin] results in decreased expression of PDGFRA mRNA	30951980
D014212	Tretinoin	[bisphenol F co-treated with Tretinoin] results in decreased expression of PDGFRA mRNA	30951980
D014212	Tretinoin	Tretinoin results in decreased expression of PDGFRA protein	16956736
D014212	Tretinoin	Tretinoin results in increased expression of PDGFRA mRNA	16604517
C447082	tricarbonyldichlororuthenium (II) dimer	6,7-dimethoxy-3-phenylquinoxaline inhibits the reaction [tricarbonyldichlororuthenium (II) dimer results in increased phosphorylation of PDGFRA protein]	26385185
C447082	tricarbonyldichlororuthenium (II) dimer	Protein Kinase Inhibitors inhibits the reaction [tricarbonyldichlororuthenium (II) dimer results in increased phosphorylation of PDGFRA protein]	26385185
C447082	tricarbonyldichlororuthenium (II) dimer	tricarbonyldichlororuthenium (II) dimer inhibits the reaction [F2 protein results in increased phosphorylation of PDGFRA protein]	26385185
C447082	tricarbonyldichlororuthenium (II) dimer	tricarbonyldichlororuthenium (II) dimer promotes the reaction [PDGFRA protein binds to PTK2B protein]	26385185
C447082	tricarbonyldichlororuthenium (II) dimer	tricarbonyldichlororuthenium (II) dimer results in increased phosphorylation of PDGFRA protein	26385185
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PDGFRA mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of PDGFRA mRNA	24935251; 26272509;
C012589	trichostatin A	trichostatin A results in decreased expression of PDGFRA mRNA	15901671
D014415	Tunicamycin	Tunicamycin results in decreased expression of PDGFRA mRNA	22378314
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PDGFRA mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of PDGFRA mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of PDGFRA mRNA	23179753; 24383497; 24935251; 26272509; 28001369;
D014635	Valproic Acid	Valproic Acid results in increased expression of PDGFRA mRNA	19136453; 24896083;
D014635	Valproic Acid	Valproic Acid results in decreased expression of PDGFRA mRNA	15901671
C066075	vanadium pentoxide	vanadium pentoxide results in increased expression of PDGFRA mRNA	17134509
D001335	Vehicle Emissions	Vehicle Emissions results in increased expression of PDGFRA mRNA	17987463
D001335	Vehicle Emissions	[PDGFRA gene mutant form affects the susceptibility to Vehicle Emissions] which results in decreased expression of PDGFRA mRNA	21222557; 21222557;
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of PDGFRA gene	25560391
C025643	vinclozolin	vinclozolin results in increased expression of PDGFRA mRNA	23034163
C029297	vinylidene chloride	vinylidene chloride results in decreased expression of PDGFRA mRNA	26682919
D014810	Vitamin E	Vitamin E results in increased expression of PDGFRA mRNA	19244175
D000077337	Vorinostat	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PDGFRA mRNA	27188386
D000077337	Vorinostat	Vorinostat results in increased expression of PDGFRA mRNA	26272509
D000077211	Zoledronic Acid	Zoledronic Acid results in increased expression of PDGFRA mRNA	24714768

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0067	ATP-binding
KW-1003	Cell membrane
KW-0966	Cell projection
KW-0145	Chemotaxis
KW-0217	Developmental protein
KW-0225	Disease mutation
KW-1015	Disulfide bond
KW-0325	Glycoprotein
KW-0333	Golgi apparatus
KW-0945	Host-virus interaction
KW-0393	Immunoglobulin domain
KW-0418	Kinase
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
IPR011009	Kinase-like_dom_sf
IPR027290	PDGFRA
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
PF07714	Pkinase_Tyr

Gene: PDGFRA

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