CleftGeneDB-Search

Gene: ITGA5

Basic information

Tag	Content
Uniprot ID	P08648; Q96HA5;
Entrez ID	3678
Genbank protein ID	AAH08786.1; AAA52467.1; CAA29601.1;
Genbank nucleotide ID	NM_002205.4
Ensembl protein ID	ENSP00000293379
Ensembl nucleotide ID	ENSG00000161638
Gene name	Integrin alpha-5
Gene symbol	ITGA5
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Integrin alpha-5/beta-1 (ITGA5:ITGB1) is a receptor for fibronectin and fibrinogen. It recognizes the sequence R-G-D in its ligands. ITGA5:ITGB1 binds to PLA2G2A via a site (site 2) which is distinct from the classical ligand-binding site (site 1) and this induces integrin conformational changes and enhanced ligand binding to site 1 (PubMed:18635536, PubMed:25398877). ITGA5:ITGB1 acts as a receptor for fibrillin-1 (FBN1) and mediates R-G-D-dependent cell adhesion to FBN1 (PubMed:12807887, PubMed:17158881). ITGA5:ITGB1 is a receptor for IL1B and binding is essential for IL1B signaling (PubMed:29030430). ITGA5:ITGB3 is a receptor for soluble CD40LG and is required for CD40/CD40LG signaling (PubMed:31331973).
Sequence	MGSRTPESPL HAVQLRWGPR RRPPLLPLLL LLLPPPPRVG GFNLDAEAPA VLSGPPGSFF 60 GFSVEFYRPG TDGVSVLVGA PKANTSQPGV LQGGAVYLCP WGASPTQCTP IEFDSKGSRL 120 LESSLSSSEG EEPVEYKSLQ WFGATVRAHG SSILACAPLY SWRTEKEPLS DPVGTCYLST 180 DNFTRILEYA PCRSDFSWAA GQGYCQGGFS AEFTKTGRVV LGGPGSYFWQ GQILSATQEQ 240 IAESYYPEYL INLVQGQLQT RQASSIYDDS YLGYSVAVGE FSGDDTEDFV AGVPKGNLTY 300 GYVTILNGSD IRSLYNFSGE QMASYFGYAV AATDVNGDGL DDLLVGAPLL MDRTPDGRPQ 360 EVGRVYVYLQ HPAGIEPTPT LTLTGHDEFG RFGSSLTPLG DLDQDGYNDV AIGAPFGGET 420 QQGVVFVFPG GPGGLGSKPS QVLQPLWAAS HTPDFFGSAL RGGRDLDGNG YPDLIVGSFG 480 VDKAVVYRGR PIVSASASLT IFPAMFNPEE RSCSLEGNPV ACINLSFCLN ASGKHVADSI 540 GFTVELQLDW QKQKGGVRRA LFLASRQATL TQTLLIQNGA REDCREMKIY LRNESEFRDK 600 LSPIHIALNF SLDPQAPVDS HGLRPALHYQ SKSRIEDKAQ ILLDCGEDNI CVPDLQLEVF 660 GEQNHVYLGD KNALNLTFHA QNVGEGGAYE AELRVTAPPE AEYSGLVRHP GNFSSLSCDY 720 FAVNQSRLLV CDLGNPMKAG ASLWGGLRFT VPHLRDTKKT IQFDFQILSK NLNNSQSDVV 780 SFRLSVEAQA QVTLNGVSKP EAVLFPVSDW HPRDQPQKEE DLGPAVHHVY ELINQGPSSI 840 SQGVLELSCP QALEGQQLLY VTRVTGLNCT TNHPINPKGL ELDPEGSLHH QQKREAPSRS 900 SASSGPQILK CPEAECFRLR CELGPLHQQE SQSLQLHFRV WAKTFLQREH QPFSLQCEAV 960 YKALKMPYRI LPRQLPQKER QVATAVQWTK AEGSYGVPLW IIILAILFGL LLLGLLIYIL 1020 YKLGFFKRSL PYGTAMEKAQ LKPPATSDA 1049

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
3VI3
3VI4
4WJK
4WK0
4WK2
4WK4
3VI3
4WJK
4WK0
4WK2

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	ITGA5	486493	F1PY05		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	ITGA5		A0A452ELS6		Capra hircus	Prediction	More>>
1:1 ortholog	ITGA5	3678	P08648		Homo sapiens	Prediction	More>>
1:1 ortholog	Itga5	16402	P11688	CPO	Mus musculus	Publication	More>>
1:1 ortholog	ITGA5		A0A2I3RVI9		Pan troglodytes	Prediction	More>>
1:1 ortholog	ITGA5	100155091	F1SR53		Sus scrofa	Prediction	More>>
1:1 ortholog	Itga5	315346	A0A0G2K1E2		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs748286038	p.Arg4Pro	missense variant	-	NC_000012.12:g.54419188C>G	ExAC,TOPMed,gnomAD
rs772245737	p.Arg4Trp	missense variant	-	NC_000012.12:g.54419189G>A	ExAC,gnomAD
rs748286038	p.Arg4Gln	missense variant	-	NC_000012.12:g.54419188C>T	ExAC,TOPMed,gnomAD
rs779513466	p.Thr5Pro	missense variant	-	NC_000012.12:g.54419186T>G	ExAC,gnomAD
rs779513466	p.Thr5Ala	missense variant	-	NC_000012.12:g.54419186T>C	ExAC,gnomAD
rs1245591566	p.Glu7Gly	missense variant	-	NC_000012.12:g.54419179T>C	gnomAD
rs754165800	p.Glu7Gln	missense variant	-	NC_000012.12:g.54419180C>G	ExAC,TOPMed,gnomAD
rs754165800	p.Glu7Lys	missense variant	-	NC_000012.12:g.54419180C>T	ExAC,TOPMed,gnomAD
rs1317256796	p.Pro9Ser	missense variant	-	NC_000012.12:g.54419174G>A	gnomAD
rs1310133503	p.Pro9Leu	missense variant	-	NC_000012.12:g.54419173G>A	TOPMed
rs756561516	p.His11Asn	missense variant	-	NC_000012.12:g.54419168G>T	ExAC,gnomAD
rs751210140	p.Ala12Val	missense variant	-	NC_000012.12:g.54419164G>A	ExAC,gnomAD
rs751210140	p.Ala12Asp	missense variant	-	NC_000012.12:g.54419164G>T	ExAC,gnomAD
rs762430573	p.Val13Met	missense variant	-	NC_000012.12:g.54419162C>T	ExAC,TOPMed,gnomAD
rs762430573	p.Val13Leu	missense variant	-	NC_000012.12:g.54419162C>G	ExAC,TOPMed,gnomAD
rs762430573	p.Val13Leu	missense variant	-	NC_000012.12:g.54419162C>A	ExAC,TOPMed,gnomAD
rs1013290694	p.Gln14His	missense variant	-	NC_000012.12:g.54419157C>A	TOPMed,gnomAD
rs752230652	p.Arg16Pro	missense variant	-	NC_000012.12:g.54419152C>G	ExAC,gnomAD
rs752230652	p.Arg16His	missense variant	-	NC_000012.12:g.54419152C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg16Ser	missense variant	-	NC_000012.12:g.54419153G>T	NCI-TCGA
rs1442401460	p.Trp17Ter	stop gained	-	NC_000012.12:g.54419148C>T	gnomAD
rs1183693939	p.Pro19Leu	missense variant	-	NC_000012.12:g.54419143G>A	TOPMed,gnomAD
rs759400458	p.Arg20Trp	missense variant	-	NC_000012.12:g.54419141G>A	ExAC,gnomAD
rs1248288542	p.Arg20Gln	missense variant	-	NC_000012.12:g.54419140C>T	gnomAD
rs776684780	p.Arg21Pro	missense variant	-	NC_000012.12:g.54419137C>G	ExAC,TOPMed,gnomAD
rs1178929621	p.Arg21Gly	missense variant	-	NC_000012.12:g.54419138G>C	gnomAD
rs1046427679	p.Arg22Gln	missense variant	-	NC_000012.12:g.54419134C>T	TOPMed,gnomAD
rs1258490777	p.Pro23Ala	missense variant	-	NC_000012.12:g.54419132G>C	TOPMed
rs1475685300	p.Pro24Arg	missense variant	-	NC_000012.12:g.54419128G>C	TOPMed
rs1293976872	p.Leu28Pro	missense variant	-	NC_000012.12:g.54419116A>G	gnomAD
rs756815283	p.Pro34Gln	missense variant	-	NC_000012.12:g.54419098G>T	ExAC
rs756815283	p.Pro34Leu	missense variant	-	NC_000012.12:g.54419098G>A	ExAC
rs532930597	p.Pro34Ser	missense variant	-	NC_000012.12:g.54419099G>A	1000Genomes,ExAC
rs756815283	p.Pro34Leu	missense variant	-	NC_000012.12:g.54419098G>A	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro36Ser	missense variant	-	NC_000012.12:g.54419093G>A	NCI-TCGA
rs748198005	p.Pro37Thr	missense variant	-	NC_000012.12:g.54419090G>T	ExAC,TOPMed,gnomAD
rs774577323	p.Pro37Arg	missense variant	-	NC_000012.12:g.54419089G>C	ExAC,gnomAD
rs748198005	p.Pro37Ser	missense variant	-	NC_000012.12:g.54419090G>A	ExAC,TOPMed,gnomAD
rs1414979719	p.Arg38Gly	missense variant	-	NC_000012.12:g.54419087T>C	TOPMed
rs565466460	p.Val39Ile	missense variant	-	NC_000012.12:g.54419084C>T	1000Genomes,ExAC,gnomAD
rs1361619039	p.Gly41Val	missense variant	-	NC_000012.12:g.54419077C>A	gnomAD
rs1216744549	p.Phe42Tyr	missense variant	-	NC_000012.12:g.54419074A>T	TOPMed
rs756404824	p.Asn43Ser	missense variant	-	NC_000012.12:g.54419071T>C	ExAC,gnomAD
rs1274314376	p.Asp45His	missense variant	-	NC_000012.12:g.54419066C>G	TOPMed
rs746283646	p.Asp45Glu	missense variant	-	NC_000012.12:g.54419064G>C	ExAC,gnomAD
rs1489908412	p.Ala46Val	missense variant	-	NC_000012.12:g.54419062G>A	NCI-TCGA
rs1489908412	p.Ala46Val	missense variant	-	NC_000012.12:g.54419062G>A	gnomAD
rs1271274842	p.Glu47Gln	missense variant	-	NC_000012.12:g.54419060C>G	gnomAD
rs1210728595	p.Ala48Thr	missense variant	-	NC_000012.12:g.54419057C>T	gnomAD
rs1312160243	p.Pro49Leu	missense variant	-	NC_000012.12:g.54419053G>A	TOPMed
rs1259046401	p.Leu52Phe	missense variant	-	NC_000012.12:g.54419045G>A	gnomAD
rs1241735133	p.Ser53Leu	missense variant	-	NC_000012.12:g.54419041G>A	TOPMed,gnomAD
rs777360125	p.Pro56Leu	missense variant	-	NC_000012.12:g.54419032G>A	NCI-TCGA,NCI-TCGA Cosmic
rs777360125	p.Pro56Leu	missense variant	-	NC_000012.12:g.54419032G>A	ExAC,gnomAD
rs777360125	p.Pro56Arg	missense variant	-	NC_000012.12:g.54419032G>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly57Arg	missense variant	-	NC_000012.12:g.54419030C>G	NCI-TCGA
rs1323791495	p.Ser63Thr	missense variant	-	NC_000012.12:g.54419012A>T	gnomAD
rs752140892	p.Glu65Gln	missense variant	-	NC_000012.12:g.54419006C>G	ExAC,TOPMed,gnomAD
rs1159807796	p.Tyr67Cys	missense variant	-	NC_000012.12:g.54418999T>C	gnomAD
rs753684798	p.Pro69Ser	missense variant	-	NC_000012.12:g.54418994G>A	ExAC,TOPMed,gnomAD
rs753684798	p.Pro69Ala	missense variant	-	NC_000012.12:g.54418994G>C	ExAC,TOPMed,gnomAD
rs766387454	p.Pro69Gln	missense variant	-	NC_000012.12:g.54418993G>T	ExAC,gnomAD
rs773172483	p.Gly70Glu	missense variant	-	NC_000012.12:g.54418990C>T	ExAC,TOPMed,gnomAD
rs773172483	p.Gly70Ala	missense variant	-	NC_000012.12:g.54418990C>G	ExAC,TOPMed,gnomAD
rs773172483	p.Gly70Val	missense variant	-	NC_000012.12:g.54418990C>A	ExAC,TOPMed,gnomAD
rs1420117629	p.Thr71Lys	missense variant	-	NC_000012.12:g.54418987G>T	TOPMed
rs1199774231	p.Asp72Glu	missense variant	-	NC_000012.12:g.54418983G>C	TOPMed,gnomAD
rs1199774231	p.Asp72Glu	missense variant	-	NC_000012.12:g.54418983G>T	TOPMed,gnomAD
rs767781201	p.Asp72Ala	missense variant	-	NC_000012.12:g.54418984T>G	ExAC,gnomAD
rs986381316	p.Gly73Glu	missense variant	-	NC_000012.12:g.54418981C>T	TOPMed
rs986381316	p.Gly73Ala	missense variant	-	NC_000012.12:g.54418981C>G	TOPMed
NCI-TCGA novel	p.Gly73Arg	missense variant	-	NC_000012.12:g.54418982C>T	NCI-TCGA
rs760018225	p.Val74Ile	missense variant	-	NC_000012.12:g.54411963C>T	ExAC,TOPMed,gnomAD
rs760018225	p.Val74Phe	missense variant	-	NC_000012.12:g.54411963C>A	ExAC,TOPMed,gnomAD
rs201444911	p.Ser75Asn	missense variant	-	NC_000012.12:g.54411959C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val76CysPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.54411957C>-	NCI-TCGA
rs1405908317	p.Leu77Pro	missense variant	-	NC_000012.12:g.54411953A>G	TOPMed
rs747446975	p.Val78Met	missense variant	-	NC_000012.12:g.54411951C>T	ExAC,gnomAD
COSM3871968	p.Gly79Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54411947C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly79Arg	missense variant	-	NC_000012.12:g.54411948C>G	NCI-TCGA
rs1181774677	p.Ala80Ser	missense variant	-	NC_000012.12:g.54411945C>A	gnomAD
rs1275562523	p.Thr85Ser	missense variant	-	NC_000012.12:g.54411930T>A	gnomAD
NCI-TCGA novel	p.Ser86Arg	missense variant	-	NC_000012.12:g.54411925G>T	NCI-TCGA
rs1205361407	p.Pro88Ser	missense variant	-	NC_000012.12:g.54411921G>A	gnomAD
rs1358317493	p.Gly89Glu	missense variant	-	NC_000012.12:g.54411917C>T	gnomAD
rs1288913750	p.Gln92Ter	stop gained	-	NC_000012.12:g.54411909G>A	gnomAD
rs1015301287	p.Ala95Val	missense variant	-	NC_000012.12:g.54411899G>A	TOPMed
rs1015301287	p.Ala95Gly	missense variant	-	NC_000012.12:g.54411899G>C	TOPMed
rs1381604337	p.Val96Ile	missense variant	-	NC_000012.12:g.54411897C>T	TOPMed
rs1446190217	p.Val96Gly	missense variant	-	NC_000012.12:g.54411896A>C	TOPMed
rs779724499	p.Pro100Ser	missense variant	-	NC_000012.12:g.54411885G>A	ExAC,gnomAD
rs755743936	p.Pro100Arg	missense variant	-	NC_000012.12:g.54411884G>C	ExAC,gnomAD
rs200580175	p.Trp101Arg	missense variant	-	NC_000012.12:g.54411882A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp101Cys	missense variant	-	NC_000012.12:g.54411880C>A	NCI-TCGA
rs1337240088	p.Gly102Asp	missense variant	-	NC_000012.12:g.54411878C>T	gnomAD
rs781319766	p.Gly102Cys	missense variant	-	NC_000012.12:g.54411879C>A	ExAC,gnomAD
rs1410611893	p.Pro105Leu	missense variant	-	NC_000012.12:g.54411869G>A	gnomAD
rs1308424437	p.Pro105Thr	missense variant	-	NC_000012.12:g.54411870G>T	TOPMed,gnomAD
rs757098110	p.Cys108Phe	missense variant	-	NC_000012.12:g.54411860C>A	ExAC,TOPMed,gnomAD
rs1161943591	p.Pro110Leu	missense variant	-	NC_000012.12:g.54411854G>A	gnomAD
rs1414693264	p.Glu112Ter	stop gained	-	NC_000012.12:g.54411849C>A	gnomAD
rs751394538	p.Ser115Gly	missense variant	-	NC_000012.12:g.54411840T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser115Asn	missense variant	-	NC_000012.12:g.54411839C>T	NCI-TCGA
rs1440912539	p.Lys116Arg	missense variant	-	NC_000012.12:g.54411836T>C	TOPMed
rs752963953	p.Ser118Ala	missense variant	-	NC_000012.12:g.54409595A>C	ExAC,gnomAD
rs1428702198	p.Arg119Trp	missense variant	-	NC_000012.12:g.54409592G>A	gnomAD
rs753921333	p.Ser124Pro	missense variant	-	NC_000012.12:g.54409577A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu125Met	missense variant	-	NC_000012.12:g.54409574G>T	NCI-TCGA
COSM1476708	p.Ser126Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54409571A>G	NCI-TCGA Cosmic
rs1371606256	p.Ser126Thr	missense variant	-	NC_000012.12:g.54409571A>T	TOPMed
rs766834020	p.Ser128Pro	missense variant	-	NC_000012.12:g.54409565A>G	ExAC,gnomAD
rs1178716961	p.Gly130Arg	missense variant	-	NC_000012.12:g.54409559C>G	gnomAD
rs1178716961	p.Gly130Arg	missense variant	-	NC_000012.12:g.54409559C>T	gnomAD
rs944011782	p.Glu131Asp	missense variant	-	NC_000012.12:g.54409554C>G	TOPMed,gnomAD
rs1277257673	p.Pro133Ser	missense variant	-	NC_000012.12:g.54409550G>A	TOPMed
rs761267579	p.Val134Met	missense variant	-	NC_000012.12:g.54409547C>T	ExAC,gnomAD
rs1418312231	p.Gln140His	missense variant	-	NC_000012.12:g.54409527C>A	gnomAD
rs767892459	p.Phe142Leu	missense variant	-	NC_000012.12:g.54409521G>C	ExAC
rs773641721	p.Phe142Ser	missense variant	-	NC_000012.12:g.54409522A>G	ExAC,gnomAD
rs762150829	p.Thr145Ala	missense variant	-	NC_000012.12:g.54409514T>C	ExAC,gnomAD
rs775266866	p.Arg147Gly	missense variant	-	NC_000012.12:g.54409508G>C	ExAC,TOPMed,gnomAD
rs775266866	p.Arg147Ter	stop gained	-	NC_000012.12:g.54409508G>A	ExAC,TOPMed,gnomAD
rs769582305	p.His149Arg	missense variant	-	NC_000012.12:g.54409501T>C	ExAC,gnomAD
rs776309549	p.Gly150Asp	missense variant	-	NC_000012.12:g.54409498C>T	ExAC,gnomAD
rs770721790	p.Ser151Phe	missense variant	-	NC_000012.12:g.54409495G>A	ExAC,TOPMed,gnomAD
rs1213100859	p.Ile153Val	missense variant	-	NC_000012.12:g.54409490T>C	gnomAD
rs746939357	p.Ile153Ser	missense variant	-	NC_000012.12:g.54409489A>C	ExAC,TOPMed,gnomAD
rs200931801	p.Ala155Val	missense variant	-	NC_000012.12:g.54409351G>A	ExAC,TOPMed,gnomAD
rs142802486	p.Cys156Trp	missense variant	-	NC_000012.12:g.54409347G>C	ESP,ExAC,TOPMed,gnomAD
rs1438946889	p.Ala157Thr	missense variant	-	NC_000012.12:g.54409346C>T	TOPMed
NCI-TCGA novel	p.Pro158Ser	missense variant	-	NC_000012.12:g.54409343G>A	NCI-TCGA
rs773147106	p.Arg163Ser	missense variant	-	NC_000012.12:g.54409328G>T	ExAC,TOPMed,gnomAD
rs771911348	p.Arg163His	missense variant	-	NC_000012.12:g.54409327C>T	ExAC,gnomAD
rs773147106	p.Arg163Cys	missense variant	-	NC_000012.12:g.54409328G>A	ExAC,TOPMed,gnomAD
rs778703752	p.Lys166Ter	stop gained	-	NC_000012.12:g.54409319T>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu167Gly	missense variant	-	NC_000012.12:g.54409315T>C	NCI-TCGA
NCI-TCGA novel	p.Pro168AlaPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.54409313_54409314insC	NCI-TCGA
rs371880807	p.Ser170Arg	missense variant	-	NC_000012.12:g.54409305G>T	ESP,ExAC,TOPMed,gnomAD
rs1487541984	p.Ser170Gly	missense variant	-	NC_000012.12:g.54409307T>C	gnomAD
rs1316863597	p.Val173Met	missense variant	-	NC_000012.12:g.54409298C>T	gnomAD
rs749481271	p.Thr175Ile	missense variant	-	NC_000012.12:g.54409291G>A	ExAC,TOPMed,gnomAD
rs749481271	p.Thr175Asn	missense variant	-	NC_000012.12:g.54409291G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu178Phe	missense variant	-	NC_000012.12:g.54409283G>A	NCI-TCGA
rs1351554056	p.Thr180Ile	missense variant	-	NC_000012.12:g.54409276G>A	gnomAD
NCI-TCGA novel	p.Thr180Arg	missense variant	-	NC_000012.12:g.54409276G>C	NCI-TCGA
rs954670614	p.Thr180Ala	missense variant	-	NC_000012.12:g.54409277T>C	gnomAD
rs368421506	p.Asp181His	missense variant	-	NC_000012.12:g.54409274C>G	ESP,ExAC,TOPMed
NCI-TCGA novel	p.Asp181Asn	missense variant	-	NC_000012.12:g.54409274C>T	NCI-TCGA
rs756204088	p.Thr184Ile	missense variant	-	NC_000012.12:g.54409264G>A	ExAC,gnomAD
NCI-TCGA novel	p.Thr184Ala	missense variant	-	NC_000012.12:g.54409265T>C	NCI-TCGA
rs540145150	p.Arg185Gln	missense variant	-	NC_000012.12:g.54409261C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1392186563	p.Arg185Ter	stop gained	-	NC_000012.12:g.54409262G>A	gnomAD
NCI-TCGA novel	p.Ile186Val	missense variant	-	NC_000012.12:g.54409259T>C	NCI-TCGA
rs781673750	p.Leu187Val	missense variant	-	NC_000012.12:g.54409256G>C	ExAC,gnomAD
COSM3462810	p.Tyr189Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54409249T>C	NCI-TCGA Cosmic
rs764527950	p.Arg193Cys	missense variant	-	NC_000012.12:g.54409238G>A	ExAC,TOPMed,gnomAD
rs764527950	p.Arg193Ser	missense variant	-	NC_000012.12:g.54409238G>T	ExAC,TOPMed,gnomAD
COSM6072877	p.Gln202Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.54408934G>A	NCI-TCGA Cosmic
rs1465763390	p.Cys205Gly	missense variant	-	NC_000012.12:g.54408925A>C	gnomAD
rs1199065438	p.Ala211Thr	missense variant	-	NC_000012.12:g.54408907C>T	gnomAD
rs200109874	p.Glu212Lys	missense variant	-	NC_000012.12:g.54408904C>T	1000Genomes,ExAC,gnomAD
rs1226321834	p.Thr214Ser	missense variant	-	NC_000012.12:g.54408897G>C	gnomAD
rs779127269	p.Thr216Ala	missense variant	-	NC_000012.12:g.54408801T>C	ExAC,TOPMed,gnomAD
rs1483139559	p.Thr216Asn	missense variant	-	NC_000012.12:g.54408800G>T	gnomAD
rs750041084	p.Arg218Cys	missense variant	-	NC_000012.12:g.54408795G>A	ExAC,TOPMed,gnomAD
rs767216349	p.Arg218His	missense variant	-	NC_000012.12:g.54408794C>T	ExAC,TOPMed,gnomAD
rs756697620	p.Val219Ala	missense variant	-	NC_000012.12:g.54408791A>G	ExAC,gnomAD
rs961253111	p.Gly222Ser	missense variant	-	NC_000012.12:g.54408783C>T	TOPMed
rs1327963720	p.Gly223Glu	missense variant	-	NC_000012.12:g.54408779C>T	gnomAD
COSM3871967	p.Gly225Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54408773C>T	NCI-TCGA Cosmic
rs751073061	p.Ser226Asn	missense variant	-	NC_000012.12:g.54408770C>T	ExAC,gnomAD
rs1231747637	p.Tyr227Phe	missense variant	-	NC_000012.12:g.54408767T>A	TOPMed
rs762819303	p.Phe228Tyr	missense variant	-	NC_000012.12:g.54408764A>T	ExAC,TOPMed,gnomAD
rs1229193206	p.Gln238Arg	missense variant	-	NC_000012.12:g.54408214T>C	gnomAD
rs765273691	p.Glu239Asp	missense variant	-	NC_000012.12:g.54408210C>G	ExAC,TOPMed,gnomAD
rs1166134765	p.Glu239Lys	missense variant	-	NC_000012.12:g.54408212C>T	TOPMed,gnomAD
rs765273691	p.Glu239Asp	missense variant	-	NC_000012.12:g.54408210C>A	ExAC,TOPMed,gnomAD
rs1273334557	p.Ile241Thr	missense variant	-	NC_000012.12:g.54408205A>G	gnomAD
NCI-TCGA novel	p.Ile241Asn	missense variant	-	NC_000012.12:g.54408205A>T	NCI-TCGA
rs1483399544	p.Ala242Val	missense variant	-	NC_000012.12:g.54408202G>A	TOPMed
rs891311982	p.Glu243Gly	missense variant	-	NC_000012.12:g.54408199T>C	TOPMed
NCI-TCGA novel	p.Ser244Thr	missense variant	-	NC_000012.12:g.54408197A>T	NCI-TCGA
rs759191087	p.Tyr245Ser	missense variant	-	NC_000012.12:g.54408193T>G	ExAC,gnomAD
COSM4043203	p.Tyr246Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54408190T>C	NCI-TCGA Cosmic
rs1418963370	p.Pro247Leu	missense variant	-	NC_000012.12:g.54408187G>A	gnomAD
COSM6137255	p.Glu248Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.54408185C>A	NCI-TCGA Cosmic
rs776603186	p.Glu248Lys	missense variant	-	NC_000012.12:g.54408185C>T	ExAC,TOPMed,gnomAD
rs766662163	p.Glu248Asp	missense variant	-	NC_000012.12:g.54408183C>A	ExAC,TOPMed,gnomAD
rs773610424	p.Asn252Ser	missense variant	-	NC_000012.12:g.54408172T>C	ExAC,TOPMed,gnomAD
rs772042372	p.Val254Ile	missense variant	-	NC_000012.12:g.54408167C>T	ExAC,gnomAD
rs1422596897	p.Val254Ala	missense variant	-	NC_000012.12:g.54408166A>G	gnomAD
rs1192627710	p.Gln257His	missense variant	-	NC_000012.12:g.54408156C>A	gnomAD
NCI-TCGA novel	p.Gln257Ter	stop gained	-	NC_000012.12:g.54408158G>A	NCI-TCGA
rs748317329	p.Leu258Arg	missense variant	-	NC_000012.12:g.54408154A>C	ExAC,gnomAD
rs374695746	p.Gln259His	missense variant	-	NC_000012.12:g.54408150C>G	ESP,ExAC,TOPMed,gnomAD
rs769209056	p.Thr260Ala	missense variant	-	NC_000012.12:g.54408149T>C	ExAC,gnomAD
COSM3462809	p.Arg261Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54408145C>G	NCI-TCGA Cosmic
rs1052054299	p.Arg261Cys	missense variant	-	NC_000012.12:g.54408146G>A	-
rs1466212812	p.Arg261His	missense variant	-	NC_000012.12:g.54408145C>T	TOPMed,gnomAD
rs770191932	p.Ala263Asp	missense variant	-	NC_000012.12:g.54408139G>T	ExAC,gnomAD
rs746631100	p.Ser264Ile	missense variant	-	NC_000012.12:g.54408136C>A	ExAC,gnomAD
rs746631100	p.Ser264Asn	missense variant	-	NC_000012.12:g.54408136C>T	ExAC,gnomAD
rs936558713	p.Ile266Asn	missense variant	-	NC_000012.12:g.54408130A>T	gnomAD
rs1296994426	p.Ile266Val	missense variant	-	NC_000012.12:g.54408131T>C	gnomAD
rs757828604	p.Tyr267His	missense variant	-	NC_000012.12:g.54408128A>G	ExAC,gnomAD
rs1321868106	p.Tyr267Phe	missense variant	-	NC_000012.12:g.54408127T>A	gnomAD
NCI-TCGA novel	p.Tyr274Ter	stop gained	-	NC_000012.12:g.54407872G>T	NCI-TCGA
NCI-TCGA novel	p.Ser275Phe	missense variant	-	NC_000012.12:g.54407870G>A	NCI-TCGA
rs76021453	p.Val278Gly	missense variant	-	NC_000012.12:g.54407861A>C	ExAC,gnomAD
rs76021453	p.Val278Asp	missense variant	-	NC_000012.12:g.54407861A>T	ExAC,gnomAD
rs747566068	p.Val278Ile	missense variant	-	NC_000012.12:g.54407862C>T	ExAC,gnomAD
rs368634534	p.Ser282Asn	missense variant	-	NC_000012.12:g.54407849C>T	ESP,TOPMed,gnomAD
rs753824600	p.Gly283Val	missense variant	-	NC_000012.12:g.54407846C>A	ExAC
rs150405444	p.Asp284Val	missense variant	-	NC_000012.12:g.54407843T>A	ESP,ExAC,TOPMed,gnomAD
rs1234258665	p.Glu287Asp	missense variant	-	NC_000012.12:g.54407833T>G	gnomAD
rs777079894	p.Asp288Gly	missense variant	-	NC_000012.12:g.54407692T>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp288Val	missense variant	-	NC_000012.12:g.54407692T>A	NCI-TCGA
rs747807757	p.Ala291Thr	missense variant	-	NC_000012.12:g.54407684C>T	ExAC,gnomAD
rs1300226248	p.Lys295Arg	missense variant	-	NC_000012.12:g.54407671T>C	gnomAD
rs773944533	p.Gly296Trp	missense variant	-	NC_000012.12:g.54407669C>A	ExAC
rs529704616	p.Thr299Ile	missense variant	-	NC_000012.12:g.54407659G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr300AlaPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.54407655_54407658GTAA>-	NCI-TCGA
rs756150386	p.Gly301Ser	missense variant	-	NC_000012.12:g.54407654C>T	ExAC,TOPMed,gnomAD
rs1161138536	p.Tyr302Ter	stop gained	-	NC_000012.12:g.54407649A>C	gnomAD
rs557409701	p.Tyr302Cys	missense variant	-	NC_000012.12:g.54407650T>C	gnomAD
COSM694651	p.Val303Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54405926C>A	NCI-TCGA Cosmic
rs746789231	p.Val303Ile	missense variant	-	NC_000012.12:g.54405926C>T	ExAC,gnomAD
rs746789231	p.Val303Leu	missense variant	-	NC_000012.12:g.54405926C>G	ExAC,gnomAD
rs138865109	p.Leu306Phe	missense variant	-	NC_000012.12:g.54405917G>A	ESP
rs758646702	p.Asn307Lys	missense variant	-	NC_000012.12:g.54405912A>C	ExAC,TOPMed,gnomAD
rs1226991858	p.Gly308Cys	missense variant	-	NC_000012.12:g.54405911C>A	gnomAD
rs1299725724	p.Ile311Val	missense variant	-	NC_000012.12:g.54405902T>C	gnomAD
rs200642938	p.Arg312Gln	missense variant	-	NC_000012.12:g.54405898C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1004911071	p.Ser313Tyr	missense variant	-	NC_000012.12:g.54405895G>T	TOPMed
NCI-TCGA novel	p.Ser313Phe	missense variant	-	NC_000012.12:g.54405895G>A	NCI-TCGA
rs564976660	p.Leu314Phe	missense variant	-	NC_000012.12:g.54405893G>A	1000Genomes,ExAC,gnomAD
rs961019735	p.Tyr315Ter	stop gained	-	NC_000012.12:g.54405888G>T	TOPMed
rs961019735	p.Tyr315Ter	stop gained	-	NC_000012.12:g.54405888G>C	TOPMed
rs755121607	p.Asn316Ser	missense variant	-	NC_000012.12:g.54405886T>C	ExAC,gnomAD
COSM281994	p.Phe317Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54405882G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Phe317Val	missense variant	-	NC_000012.12:g.54405884A>C	NCI-TCGA
COSM3462806	p.Glu320Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.54405875C>A	NCI-TCGA Cosmic
COSM3462807	p.Glu320Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54405875C>T	NCI-TCGA Cosmic
rs761036310	p.Glu320Gln	missense variant	-	NC_000012.12:g.54405875C>G	ExAC,TOPMed,gnomAD
rs1337864027	p.Met322Thr	missense variant	-	NC_000012.12:g.54405715A>G	TOPMed
rs1443415832	p.Phe326Tyr	missense variant	-	NC_000012.12:g.54405703A>T	TOPMed
rs1210718966	p.Ala329Thr	missense variant	-	NC_000012.12:g.54405695C>T	gnomAD
rs375602887	p.Ala332Thr	missense variant	-	NC_000012.12:g.54405686C>T	ESP,ExAC,TOPMed,gnomAD
rs751015509	p.Thr333Ile	missense variant	-	NC_000012.12:g.54405682G>A	ExAC,TOPMed,gnomAD
rs1180932291	p.Thr333Ala	missense variant	-	NC_000012.12:g.54405683T>C	gnomAD
rs762335174	p.Val335Ile	missense variant	-	NC_000012.12:g.54405677C>T	ExAC,TOPMed,gnomAD
rs752382903	p.Asn336Ser	missense variant	-	NC_000012.12:g.54405673T>C	ExAC,gnomAD
rs141341610	p.Gly339Arg	missense variant	-	NC_000012.12:g.54405665C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1159305654	p.Leu340Met	missense variant	-	NC_000012.12:g.54405373G>T	gnomAD
rs202050846	p.Asp341Gly	missense variant	-	NC_000012.12:g.54405369T>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp342Asn	missense variant	-	NC_000012.12:g.54405367C>T	NCI-TCGA
rs185000546	p.Val345Leu	missense variant	-	NC_000012.12:g.54405358C>A	1000Genomes
rs765804292	p.Ala347Val	missense variant	-	NC_000012.12:g.54405351G>A	ExAC,gnomAD
COSM3462805	p.Met351Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54405338C>T	NCI-TCGA Cosmic
rs1301500930	p.Asp352Asn	missense variant	-	NC_000012.12:g.54405337C>T	TOPMed
COSM3462804	p.Arg353Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54405334G>A	NCI-TCGA Cosmic
rs897973104	p.Arg353Gln	missense variant	-	NC_000012.12:g.54405333C>T	gnomAD
rs1276822907	p.Thr354Asn	missense variant	-	NC_000012.12:g.54405330G>T	gnomAD
rs761556901	p.Pro355Leu	missense variant	-	NC_000012.12:g.54405327G>A	ExAC,gnomAD
rs767447537	p.Pro355Ser	missense variant	-	NC_000012.12:g.54405328G>A	ExAC,TOPMed,gnomAD
rs146614663	p.Gly357Glu	missense variant	-	NC_000012.12:g.54405321C>T	ESP,ExAC,TOPMed,gnomAD
rs768546640	p.Gly357Arg	missense variant	-	NC_000012.12:g.54405322C>T	ExAC,gnomAD
rs769749826	p.Arg358Gln	missense variant	-	NC_000012.12:g.54405318C>T	ExAC,TOPMed,gnomAD
rs775846363	p.Arg358Trp	missense variant	-	NC_000012.12:g.54405319G>A	ExAC,gnomAD
COSM3462803	p.Pro359Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54405316G>A	NCI-TCGA Cosmic
rs781735339	p.Val362Leu	missense variant	-	NC_000012.12:g.54405307C>A	ExAC,gnomAD
rs1389013565	p.Val362Ala	missense variant	-	NC_000012.12:g.54405306A>G	TOPMed,gnomAD
COSM3871966	p.Arg364Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54405300C>T	NCI-TCGA Cosmic
rs371089429	p.Arg364Gly	missense variant	-	NC_000012.12:g.54405301T>C	ESP,ExAC,TOPMed,gnomAD
rs1419913852	p.Val365Phe	missense variant	-	NC_000012.12:g.54405298C>A	gnomAD
rs949081104	p.Val367Ile	missense variant	-	NC_000012.12:g.54405292C>T	TOPMed,gnomAD
rs777974256	p.Val367Ala	missense variant	-	NC_000012.12:g.54405291A>G	ExAC,TOPMed
NCI-TCGA novel	p.Val367Phe	missense variant	-	NC_000012.12:g.54405292C>A	NCI-TCGA
rs1199711064	p.Gln370Lys	missense variant	-	NC_000012.12:g.54405283G>T	TOPMed
rs758868135	p.His371Pro	missense variant	-	NC_000012.12:g.54405279T>G	ExAC,TOPMed,gnomAD
rs377645220	p.Gly374Ser	missense variant	-	NC_000012.12:g.54405271C>T	ESP,ExAC,TOPMed,gnomAD
rs767394205	p.Ile375Val	missense variant	-	NC_000012.12:g.54405268T>C	ExAC,TOPMed,gnomAD
rs761718645	p.Glu376Gln	missense variant	-	NC_000012.12:g.54405265C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu376Asp	missense variant	-	NC_000012.12:g.54405263C>G	NCI-TCGA
NCI-TCGA novel	p.Pro377Ser	missense variant	-	NC_000012.12:g.54405262G>A	NCI-TCGA
rs773645556	p.Thr378Met	missense variant	-	NC_000012.12:g.54405258G>A	ExAC,TOPMed,gnomAD
rs1305670758	p.Pro379Thr	missense variant	-	NC_000012.12:g.54405256G>T	TOPMed,gnomAD
rs1305670758	p.Pro379Ser	missense variant	-	NC_000012.12:g.54405256G>A	TOPMed,gnomAD
COSM3462801	p.Leu381Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54405250G>A	NCI-TCGA Cosmic
rs770056058	p.Thr382Ile	missense variant	-	NC_000012.12:g.54405246G>A	ExAC,gnomAD
rs554050434	p.Thr382Ser	missense variant	-	NC_000012.12:g.54405247T>A	1000Genomes,ExAC,gnomAD
rs745899382	p.Leu383Val	missense variant	-	NC_000012.12:g.54405244G>C	ExAC,TOPMed,gnomAD
rs1251415166	p.His386Tyr	missense variant	-	NC_000012.12:g.54405235G>A	gnomAD
rs776870697	p.Asp387Asn	missense variant	-	NC_000012.12:g.54405232C>T	ExAC,TOPMed,gnomAD
rs776870697	p.Asp387His	missense variant	-	NC_000012.12:g.54405232C>G	ExAC,TOPMed,gnomAD
COSM941142	p.Phe389Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54405225A>C	NCI-TCGA Cosmic
rs771180802	p.Arg391Ter	stop gained	-	NC_000012.12:g.54405220G>A	ExAC,TOPMed,gnomAD
rs747517291	p.Arg391Gln	missense variant	-	NC_000012.12:g.54405219C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe392Val	missense variant	-	NC_000012.12:g.54405217A>C	NCI-TCGA
rs778404382	p.Ser394Thr	missense variant	-	NC_000012.12:g.54405210C>G	ExAC,gnomAD
rs758635941	p.Ser395Phe	missense variant	-	NC_000012.12:g.54405207G>A	ExAC,TOPMed,gnomAD
rs1233480219	p.Pro398Leu	missense variant	-	NC_000012.12:g.54405198G>A	TOPMed,gnomAD
rs748554174	p.Pro398Ser	missense variant	-	NC_000012.12:g.54405199G>A	ExAC,gnomAD
COSM1362789	p.Leu399TrpPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.54405196G>-	NCI-TCGA Cosmic
rs755787249	p.Leu399Gln	missense variant	-	NC_000012.12:g.54405195A>T	ExAC,gnomAD
rs779533134	p.Leu399Val	missense variant	-	NC_000012.12:g.54405196G>C	ExAC,gnomAD
rs200132643	p.Gly400Arg	missense variant	-	NC_000012.12:g.54405193C>T	1000Genomes
rs750126955	p.Gly400Glu	missense variant	-	NC_000012.12:g.54405192C>T	ExAC,TOPMed,gnomAD
rs766985360	p.Leu402Val	missense variant	-	NC_000012.12:g.54405187G>C	ExAC,gnomAD
rs751437693	p.Asp403Gly	missense variant	-	NC_000012.12:g.54405183T>C	ExAC,gnomAD
rs578020993	p.Asp405Asn	missense variant	-	NC_000012.12:g.54405178C>T	1000Genomes,ExAC,gnomAD
rs752563644	p.Gly406Ser	missense variant	-	NC_000012.12:g.54405175C>T	ExAC,gnomAD
rs1420884339	p.Tyr407Cys	missense variant	-	NC_000012.12:g.54405171T>C	TOPMed,gnomAD
rs759806937	p.Asn408Ser	missense variant	-	NC_000012.12:g.54405168T>C	ExAC,TOPMed,gnomAD
rs200918284	p.Asn408Asp	missense variant	-	NC_000012.12:g.54405169T>C	ESP,ExAC,TOPMed,gnomAD
rs780879525	p.Ile412Val	missense variant	-	NC_000012.12:g.54404886T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly413Trp	missense variant	-	NC_000012.12:g.54404883C>A	NCI-TCGA
rs202005757	p.Ala414Ser	missense variant	-	NC_000012.12:g.54404880C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs991567246	p.Pro415Ser	missense variant	-	NC_000012.12:g.54404877G>A	gnomAD
NCI-TCGA novel	p.Pro415Leu	missense variant	-	NC_000012.12:g.54404876G>A	NCI-TCGA
rs1206487389	p.Gly417Val	missense variant	-	NC_000012.12:g.54404870C>A	gnomAD
rs1260111085	p.Gly417Cys	missense variant	-	NC_000012.12:g.54404871C>A	gnomAD
rs1255104003	p.Glu419Gly	missense variant	-	NC_000012.12:g.54404864T>C	gnomAD
rs1231427923	p.Thr420Pro	missense variant	-	NC_000012.12:g.54404862T>G	gnomAD
rs538916711	p.Gln421Glu	missense variant	-	NC_000012.12:g.54404859G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs538916711	p.Gln421Lys	missense variant	-	NC_000012.12:g.54404859G>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln422ArgPheSerTerUnk	frameshift	-	NC_000012.12:g.54404856G>-	NCI-TCGA
rs1324416410	p.Val424Glu	missense variant	-	NC_000012.12:g.54404849A>T	TOPMed,gnomAD
rs571620637	p.Phe426Leu	missense variant	-	NC_000012.12:g.54404844A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs571620637	p.Phe426Val	missense variant	-	NC_000012.12:g.54404844A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs200940770	p.Val427Ile	missense variant	-	NC_000012.12:g.54404841C>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM941141	p.Pro429His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54404834G>T	NCI-TCGA Cosmic
rs754058815	p.Pro429Ala	missense variant	-	NC_000012.12:g.54404835G>C	ExAC,TOPMed,gnomAD
rs754058815	p.Pro429Ser	missense variant	-	NC_000012.12:g.54404835G>A	ExAC,TOPMed,gnomAD
COSM3871965	p.Gly430Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54404831C>T	NCI-TCGA Cosmic
rs1432938028	p.Gly431Val	missense variant	-	NC_000012.12:g.54404828C>A	gnomAD
rs1216639356	p.Gly433Glu	missense variant	-	NC_000012.12:g.54404822C>T	TOPMed
rs766717100	p.Gly434Glu	missense variant	-	NC_000012.12:g.54404819C>T	ExAC,TOPMed,gnomAD
rs370690822	p.Leu435Val	missense variant	-	NC_000012.12:g.54404817G>C	ESP,TOPMed
rs760636583	p.Gly436Asp	missense variant	-	NC_000012.12:g.54404813C>T	ExAC,gnomAD
rs772093582	p.Ser440Ala	missense variant	-	NC_000012.12:g.54404802A>C	ExAC,gnomAD
rs762352251	p.Gln441His	missense variant	-	NC_000012.12:g.54404797C>G	ExAC,gnomAD
rs774907143	p.Val442Leu	missense variant	-	NC_000012.12:g.54404796C>G	ExAC,gnomAD
rs531610716	p.Gln444Pro	missense variant	-	NC_000012.12:g.54404789T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs749665079	p.Ala448Val	missense variant	-	NC_000012.12:g.54404777G>A	ExAC,gnomAD
rs1204298444	p.Ala449Val	missense variant	-	NC_000012.12:g.54404774G>A	gnomAD
rs1337329610	p.His451Asn	missense variant	-	NC_000012.12:g.54404769G>T	gnomAD
rs770600915	p.Pro453Gln	missense variant	-	NC_000012.12:g.54404762G>T	ExAC,gnomAD
rs149010571	p.Pro453Ser	missense variant	-	NC_000012.12:g.54404763G>A	ESP,ExAC,TOPMed,gnomAD
rs1478252930	p.Asp454Asn	missense variant	-	NC_000012.12:g.54404760C>T	TOPMed
rs990076461	p.Asp454Gly	missense variant	-	NC_000012.12:g.54404759T>C	TOPMed,gnomAD
rs1313527376	p.Phe455Leu	missense variant	-	NC_000012.12:g.54404755G>C	gnomAD
rs777310978	p.Phe455Ile	missense variant	-	NC_000012.12:g.54404757A>T	ExAC,TOPMed,gnomAD
rs757883584	p.Phe456Leu	missense variant	-	NC_000012.12:g.54404754A>G	ExAC,gnomAD
COSM941140	p.Gly457Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54404750C>A	NCI-TCGA Cosmic
COSM3416963	p.Gly457Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54404750C>T	NCI-TCGA Cosmic
rs752673751	p.Gly457Ser	missense variant	-	NC_000012.12:g.54404751C>T	ExAC,gnomAD
rs779009829	p.Leu460Phe	missense variant	-	NC_000012.12:g.54404742G>A	ExAC,TOPMed,gnomAD
rs376218631	p.Arg461Gln	missense variant	-	NC_000012.12:g.54404738C>T	ESP,ExAC,TOPMed,gnomAD
rs754755879	p.Arg461Ter	stop gained	-	NC_000012.12:g.54404739G>A	ExAC,gnomAD
COSM5375507	p.Gly462Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54404735C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly462Arg	missense variant	-	NC_000012.12:g.54404736C>T	NCI-TCGA
rs181020771	p.Arg464Gln	missense variant	-	NC_000012.12:g.54404729C>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM3812443	p.Asp465Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54404727C>A	NCI-TCGA Cosmic
COSM3462795	p.Asp467Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54404721C>T	NCI-TCGA Cosmic
rs1180795787	p.Gly468Val	missense variant	-	NC_000012.12:g.54404717C>A	gnomAD
COSM3462794	p.Gly470Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54404711C>T	NCI-TCGA Cosmic
rs767632353	p.Gly470Arg	missense variant	-	NC_000012.12:g.54404712C>T	ExAC,TOPMed,gnomAD
rs774780283	p.Tyr471Cys	missense variant	-	NC_000012.12:g.54404708T>C	ExAC,gnomAD
rs1196310720	p.Tyr471His	missense variant	-	NC_000012.12:g.54404709A>G	gnomAD
rs190077327	p.Pro472Thr	missense variant	-	NC_000012.12:g.54404706G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs190077327	p.Pro472Ala	missense variant	-	NC_000012.12:g.54404706G>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro472Ser	missense variant	-	NC_000012.12:g.54404706G>A	NCI-TCGA
rs201235779	p.Asp473Glu	missense variant	-	NC_000012.12:g.54404474A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu474Val	missense variant	-	NC_000012.12:g.54404473G>C	NCI-TCGA
rs577974426	p.Ile475Thr	missense variant	-	NC_000012.12:g.54404469A>G	1000Genomes,ExAC,gnomAD
rs779964082	p.Ser478Pro	missense variant	-	NC_000012.12:g.54404461A>G	ExAC,gnomAD
rs1256171820	p.Phe479Ser	missense variant	-	NC_000012.12:g.54404457A>G	TOPMed
rs1007830118	p.Gly480Arg	missense variant	-	NC_000012.12:g.54404455C>G	TOPMed
rs1251117971	p.Lys483Asn	missense variant	-	NC_000012.12:g.54404444C>G	TOPMed,gnomAD
rs750645934	p.Ala484Ser	missense variant	-	NC_000012.12:g.54404443C>A	ExAC,gnomAD
rs1335315221	p.Ala484Val	missense variant	-	NC_000012.12:g.54404442G>A	gnomAD
NCI-TCGA novel	p.Val485Leu	missense variant	-	NC_000012.12:g.54404440C>G	NCI-TCGA
rs1363778532	p.Gly489Ser	missense variant	-	NC_000012.12:g.54404245C>T	TOPMed
rs779915783	p.Arg490His	missense variant	-	NC_000012.12:g.54404241C>T	ExAC,TOPMed,gnomAD
rs779915783	p.Arg490Leu	missense variant	-	NC_000012.12:g.54404241C>A	ExAC,TOPMed,gnomAD
rs749234827	p.Arg490Cys	missense variant	-	NC_000012.12:g.54404242G>A	ExAC,TOPMed,gnomAD
rs377096524	p.Pro491Ala	missense variant	-	NC_000012.12:g.54404239G>C	ESP,gnomAD
rs755882971	p.Pro491Leu	missense variant	-	NC_000012.12:g.54404238G>A	ExAC,gnomAD
rs373708305	p.Val493Leu	missense variant	-	NC_000012.12:g.54404233C>A	ESP,ExAC,gnomAD
rs373708305	p.Val493Met	missense variant	-	NC_000012.12:g.54404233C>T	ESP,ExAC,gnomAD
rs112896207	p.Ala495Thr	missense variant	-	NC_000012.12:g.54404227C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1388337288	p.Ser496Asn	missense variant	-	NC_000012.12:g.54404223C>T	TOPMed
rs147794441	p.Leu499Phe	missense variant	-	NC_000012.12:g.54404215G>A	ESP,ExAC,gnomAD
rs1418769615	p.Thr500Ile	missense variant	-	NC_000012.12:g.54404211G>A	gnomAD
rs754180687	p.Ile501Val	missense variant	-	NC_000012.12:g.54404209T>C	ExAC,gnomAD
rs1038472130	p.Phe502Ser	missense variant	-	NC_000012.12:g.54404205A>G	-
rs1476305227	p.Pro503Leu	missense variant	-	NC_000012.12:g.54404202G>A	gnomAD
rs181997225	p.Ala504Thr	missense variant	-	NC_000012.12:g.54404200C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala504ProPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.54404201G>-	NCI-TCGA
rs144338335	p.Met505Val	missense variant	-	NC_000012.12:g.54404197T>C	ESP,TOPMed,gnomAD
rs774217332	p.Met505Thr	missense variant	-	NC_000012.12:g.54404196A>G	ExAC,gnomAD
rs762568472	p.Arg511Gln	missense variant	-	NC_000012.12:g.54404178C>T	ExAC,gnomAD
rs527756302	p.Arg511Trp	missense variant	-	NC_000012.12:g.54404179G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1213172870	p.Cys513Tyr	missense variant	-	NC_000012.12:g.54404172C>T	TOPMed,gnomAD
rs1364527383	p.Cys513Ter	stop gained	-	NC_000012.12:g.54404171G>T	gnomAD
rs1270352532	p.Ser514Ile	missense variant	-	NC_000012.12:g.54404169C>A	gnomAD
rs370538855	p.Leu515Ser	missense variant	-	NC_000012.12:g.54404166A>G	ESP,ExAC,TOPMed,gnomAD
rs769647340	p.Gly517Arg	missense variant	-	NC_000012.12:g.54404161C>T	ExAC,gnomAD
rs936061380	p.Asn518His	missense variant	-	NC_000012.12:g.54404158T>G	TOPMed
rs1314150572	p.Asn518Ser	missense variant	-	NC_000012.12:g.54404157T>C	gnomAD
rs1434856549	p.Ala521Gly	missense variant	-	NC_000012.12:g.54404148G>C	gnomAD
rs1192197386	p.Cys522Ser	missense variant	-	NC_000012.12:g.54404145C>G	TOPMed
rs1424409978	p.Ile523Thr	missense variant	-	NC_000012.12:g.54403964A>G	gnomAD
rs770698753	p.Ser526Thr	missense variant	-	NC_000012.12:g.54403955C>G	ExAC,gnomAD
rs770698753	p.Ser526Asn	missense variant	-	NC_000012.12:g.54403955C>T	ExAC,gnomAD
rs1239375715	p.Asn530Ser	missense variant	-	NC_000012.12:g.54403943T>C	TOPMed,gnomAD
rs1424545606	p.Asn530Tyr	missense variant	-	NC_000012.12:g.54403944T>A	TOPMed
NCI-TCGA novel	p.Gly533Glu	missense variant	-	NC_000012.12:g.54403934C>T	NCI-TCGA
rs140478060	p.Val536Ile	missense variant	-	NC_000012.12:g.54403926C>T	ESP,ExAC,TOPMed,gnomAD
rs1274589915	p.Ala537Pro	missense variant	-	NC_000012.12:g.54403923C>G	gnomAD
rs1245087831	p.Ser539Phe	missense variant	-	NC_000012.12:g.54403916G>A	gnomAD
rs772305445	p.Ile540Thr	missense variant	-	NC_000012.12:g.54403913A>G	ExAC,TOPMed,gnomAD
rs748314224	p.Gly541Asp	missense variant	-	NC_000012.12:g.54403779C>T	ExAC,gnomAD
rs1417703744	p.Thr543Ile	missense variant	-	NC_000012.12:g.54403773G>A	TOPMed
rs774696975	p.Val544Met	missense variant	-	NC_000012.12:g.54403771C>T	ExAC,gnomAD
rs768565382	p.Glu545Gly	missense variant	-	NC_000012.12:g.54403767T>C	ExAC,TOPMed,gnomAD
rs780669624	p.Leu546Phe	missense variant	-	NC_000012.12:g.54403765G>A	ExAC,gnomAD
rs756708362	p.Trp550Cys	missense variant	-	NC_000012.12:g.54403751C>G	ExAC,TOPMed,gnomAD
rs772988549	p.Arg558Gln	missense variant	-	NC_000012.12:g.54403728C>T	ExAC,gnomAD
rs143754928	p.Arg558Trp	missense variant	-	NC_000012.12:g.54403729G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs764954354	p.Arg559Trp	missense variant	-	NC_000012.12:g.54403726G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg559Gln	missense variant	-	NC_000012.12:g.54403725C>T	NCI-TCGA
rs1174215658	p.Ala560Ser	missense variant	-	NC_000012.12:g.54403723C>A	TOPMed
rs760575941	p.Phe562Leu	missense variant	-	NC_000012.12:g.54403715G>T	ExAC,gnomAD
rs765923735	p.Phe562Ser	missense variant	-	NC_000012.12:g.54403716A>G	ExAC,gnomAD
rs1360350167	p.Leu563Pro	missense variant	-	NC_000012.12:g.54403713A>G	TOPMed
rs773200827	p.Ala564Val	missense variant	-	NC_000012.12:g.54403710G>A	ExAC,gnomAD
COSM941139	p.Ser565Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54403707G>T	NCI-TCGA Cosmic
rs774373363	p.Gln567Arg	missense variant	-	NC_000012.12:g.54403701T>C	ExAC,gnomAD
rs200536043	p.Gln567Glu	missense variant	-	NC_000012.12:g.54403702G>C	1000Genomes,ExAC,gnomAD
rs200536043	p.Gln567Lys	missense variant	-	NC_000012.12:g.54403702G>T	1000Genomes,ExAC,gnomAD
rs1324476787	p.Ala568Thr	missense variant	-	NC_000012.12:g.54403699C>T	gnomAD
rs768955596	p.Thr571Ile	missense variant	-	NC_000012.12:g.54403689G>A	ExAC,gnomAD
NCI-TCGA novel	p.Thr573Asn	missense variant	-	NC_000012.12:g.54403683G>T	NCI-TCGA
rs1432992844	p.Ile576Met	missense variant	-	NC_000012.12:g.54403673G>C	gnomAD
COSM1492982	p.Ala580Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54403663C>T	NCI-TCGA Cosmic
COSM1362788	p.Arg581Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.54403660G>A	NCI-TCGA Cosmic
rs770030872	p.Arg581Gln	missense variant	-	NC_000012.12:g.54403659C>T	ExAC,TOPMed,gnomAD
rs746368710	p.Glu582Lys	missense variant	-	NC_000012.12:g.54403657C>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp583His	missense variant	-	NC_000012.12:g.54403654C>G	NCI-TCGA
rs1371721871	p.Cys584Tyr	missense variant	-	NC_000012.12:g.54403650C>T	gnomAD
NCI-TCGA novel	p.Glu586Asp	missense variant	-	NC_000012.12:g.54403643C>A	NCI-TCGA
COSM3462790	p.Met587Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54403640C>T	NCI-TCGA Cosmic
rs147197344	p.Met587Leu	missense variant	-	NC_000012.12:g.54403642T>G	ESP,TOPMed
rs781779041	p.Ile589Met	missense variant	-	NC_000012.12:g.54403634G>C	ExAC,gnomAD
rs1402236382	p.Tyr590Ser	missense variant	-	NC_000012.12:g.54403632T>G	TOPMed
rs1180953048	p.Asn593Ser	missense variant	-	NC_000012.12:g.54403323T>C	gnomAD
rs1199023525	p.Glu594Asp	missense variant	-	NC_000012.12:g.54403319C>G	TOPMed,gnomAD
rs769977784	p.Glu594Lys	missense variant	-	NC_000012.12:g.54403321C>T	ExAC,TOPMed,gnomAD
rs550770250	p.Ser595Leu	missense variant	-	NC_000012.12:g.54403317G>A	1000Genomes,ExAC,gnomAD
rs550770250	p.Ser595Ter	stop gained	-	NC_000012.12:g.54403317G>C	1000Genomes,ExAC,gnomAD
rs1330631505	p.Glu596Gln	missense variant	-	NC_000012.12:g.54403315C>G	gnomAD
rs1414929192	p.Arg598Ter	stop gained	-	NC_000012.12:g.54403309G>A	TOPMed
rs771498905	p.Arg598Gln	missense variant	-	NC_000012.12:g.54403308C>T	ExAC,gnomAD
rs771498905	p.Arg598Leu	missense variant	-	NC_000012.12:g.54403308C>A	ExAC,gnomAD
rs529138964	p.Asp599Glu	missense variant	-	NC_000012.12:g.54403304G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs778171169	p.Lys600Arg	missense variant	-	NC_000012.12:g.54403302T>C	ExAC,gnomAD
rs1268133397	p.Leu601Val	missense variant	-	NC_000012.12:g.54403300G>C	gnomAD
rs1218292718	p.Ser602Pro	missense variant	-	NC_000012.12:g.54403297A>G	gnomAD
rs148483027	p.Ser602Leu	missense variant	-	NC_000012.12:g.54403296G>A	ESP,TOPMed,gnomAD
rs148483027	p.Ser602Ter	stop gained	-	NC_000012.12:g.54403296G>T	ESP,TOPMed,gnomAD
rs1447900283	p.Pro603Ser	missense variant	-	NC_000012.12:g.54403294G>A	gnomAD
rs748926845	p.Pro603Leu	missense variant	-	NC_000012.12:g.54403293G>A	ExAC,TOPMed,gnomAD
rs779697893	p.His605Arg	missense variant	-	NC_000012.12:g.54403287T>C	ExAC,gnomAD
rs138215416	p.Ala607Thr	missense variant	-	NC_000012.12:g.54403282C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala607Asp	missense variant	-	NC_000012.12:g.54403281G>T	NCI-TCGA
rs746144783	p.Leu608Phe	missense variant	-	NC_000012.12:g.54403279G>A	ExAC,TOPMed,gnomAD
COSM6137259	p.Asn609Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54403276T>A	NCI-TCGA Cosmic
COSM4043200	p.Pro614Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54403260G>A	NCI-TCGA Cosmic
rs1453519357	p.Pro614Thr	missense variant	-	NC_000012.12:g.54403261G>T	gnomAD
rs144650038	p.Gln615Lys	missense variant	-	NC_000012.12:g.54403258G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149348150	p.Val618Leu	missense variant	-	NC_000012.12:g.54403249C>G	ESP,ExAC,TOPMed,gnomAD
rs149348150	p.Val618Leu	missense variant	-	NC_000012.12:g.54403249C>A	ESP,ExAC,TOPMed,gnomAD
rs1204623492	p.Ser620Thr	missense variant	-	NC_000012.12:g.54403242C>G	gnomAD
rs138831238	p.His621Gln	missense variant	-	NC_000012.12:g.54403238G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs752908191	p.His621Asp	missense variant	-	NC_000012.12:g.54403240G>C	ExAC,gnomAD
rs765560841	p.His621Arg	missense variant	-	NC_000012.12:g.54403239T>C	ExAC,gnomAD
rs776793133	p.Gly622Ser	missense variant	-	NC_000012.12:g.54403237C>T	ExAC,TOPMed,gnomAD
rs1439114037	p.Leu623Pro	missense variant	-	NC_000012.12:g.54403233A>G	gnomAD
COSM4842920	p.Arg624Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54403229C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro625Ser	missense variant	-	NC_000012.12:g.54403228G>A	NCI-TCGA
rs1317282528	p.Ala626Thr	missense variant	-	NC_000012.12:g.54403225C>T	gnomAD
rs773650096	p.His628Arg	missense variant	-	NC_000012.12:g.54403218T>C	ExAC,gnomAD
rs772424925	p.Tyr629Cys	missense variant	-	NC_000012.12:g.54403215T>C	ExAC,gnomAD
rs1192691483	p.Ser633Ile	missense variant	-	NC_000012.12:g.54403203C>A	gnomAD
rs1478270820	p.Arg634Trp	missense variant	-	NC_000012.12:g.54403201G>A	gnomAD
rs142874592	p.Arg634Gln	missense variant	-	NC_000012.12:g.54403200C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs745572821	p.Ile635Arg	missense variant	-	NC_000012.12:g.54403197A>C	ExAC,gnomAD
rs756782196	p.Asp637Tyr	missense variant	-	NC_000012.12:g.54403192C>A	ExAC,TOPMed,gnomAD
rs756782196	p.Asp637Asn	missense variant	-	NC_000012.12:g.54403192C>T	ExAC,TOPMed,gnomAD
rs138386543	p.Lys638Glu	missense variant	-	NC_000012.12:g.54403189T>C	ESP,ExAC,TOPMed,gnomAD
rs202210895	p.Ala639Gly	missense variant	-	NC_000012.12:g.54403049G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1418047798	p.Val659Glu	missense variant	-	NC_000012.12:g.54402989A>T	TOPMed
rs778848462	p.Phe660Ser	missense variant	-	NC_000012.12:g.54402986A>G	ExAC,gnomAD
rs754880396	p.Gly661Glu	missense variant	-	NC_000012.12:g.54402983C>T	ExAC,gnomAD
rs1441874424	p.Glu662Val	missense variant	-	NC_000012.12:g.54402328T>A	gnomAD
rs1239207772	p.Asn664Ser	missense variant	-	NC_000012.12:g.54402322T>C	gnomAD
rs779007757	p.His665Leu	missense variant	-	NC_000012.12:g.54402319T>A	ExAC,gnomAD
rs938187132	p.His665Tyr	missense variant	-	NC_000012.12:g.54402320G>A	TOPMed
rs780278136	p.Asn675Lys	missense variant	-	NC_000012.12:g.54402288G>T	ExAC,TOPMed,gnomAD
rs756270011	p.Thr677Ile	missense variant	-	NC_000012.12:g.54402283G>A	ExAC,gnomAD
rs367885610	p.Phe678Cys	missense variant	-	NC_000012.12:g.54402280A>C	ESP,ExAC,TOPMed,gnomAD
rs367885610	p.Phe678Ser	missense variant	-	NC_000012.12:g.54402280A>G	ESP,ExAC,TOPMed,gnomAD
rs1242255253	p.His679Leu	missense variant	-	NC_000012.12:g.54402277T>A	gnomAD
NCI-TCGA novel	p.His679Tyr	missense variant	-	NC_000012.12:g.54402278G>A	NCI-TCGA
rs781241844	p.Ala680Thr	missense variant	-	NC_000012.12:g.54402275C>T	ExAC,gnomAD
rs1158806417	p.Ala680Val	missense variant	-	NC_000012.12:g.54402274G>A	TOPMed
rs1302384376	p.Gln681Leu	missense variant	-	NC_000012.12:g.54402271T>A	gnomAD
rs762925290	p.Val683Met	missense variant	-	NC_000012.12:g.54402266C>T	ExAC,gnomAD
rs1365748798	p.Gly686Arg	missense variant	-	NC_000012.12:g.54402257C>G	gnomAD
NCI-TCGA novel	p.Gly686Ser	missense variant	-	NC_000012.12:g.54402257C>T	NCI-TCGA
rs764586614	p.Ala688Thr	missense variant	-	NC_000012.12:g.54402251C>T	ExAC,gnomAD
rs1344705718	p.Tyr689Ter	stop gained	-	NC_000012.12:g.54402246A>C	gnomAD
rs1381530455	p.Leu693Phe	missense variant	-	NC_000012.12:g.54402236G>A	gnomAD
rs150458044	p.Arg694Gln	missense variant	-	NC_000012.12:g.54402232C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150458044	p.Arg694Pro	missense variant	-	NC_000012.12:g.54402232C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs765680909	p.Arg694Trp	missense variant	-	NC_000012.12:g.54402233G>A	ExAC,gnomAD
rs1268938928	p.Val695Ile	missense variant	-	NC_000012.12:g.54402230C>T	gnomAD
rs771652830	p.Thr696Ile	missense variant	-	NC_000012.12:g.54402226G>A	ExAC
rs200224397	p.Ala697Thr	missense variant	-	NC_000012.12:g.54402224C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs768504106	p.Pro699Ala	missense variant	-	NC_000012.12:g.54402218G>C	ExAC,TOPMed,gnomAD
rs768504106	p.Pro699Ser	missense variant	-	NC_000012.12:g.54402218G>A	ExAC,TOPMed,gnomAD
rs749300861	p.Glu700Lys	missense variant	-	NC_000012.12:g.54402215C>T	ExAC,TOPMed,gnomAD
COSM4908809	p.Glu702Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54402209C>G	NCI-TCGA Cosmic
rs779684978	p.Tyr703Cys	missense variant	-	NC_000012.12:g.54402205T>C	ExAC,gnomAD
rs781404219	p.Val707Ile	missense variant	-	NC_000012.12:g.54402194C>T	ExAC,TOPMed,gnomAD
rs961412174	p.Val707Ala	missense variant	-	NC_000012.12:g.54402193A>G	TOPMed,gnomAD
rs762798561	p.Ser714Phe	missense variant	-	NC_000012.12:g.54402086G>A	ExAC,TOPMed,gnomAD
rs771162987	p.Ser717Arg	missense variant	-	NC_000012.12:g.54402076G>T	ExAC,gnomAD
rs747278825	p.Cys718Tyr	missense variant	-	NC_000012.12:g.54402074C>T	ExAC,gnomAD
rs777683379	p.Tyr720His	missense variant	-	NC_000012.12:g.54402069A>G	ExAC,gnomAD
NCI-TCGA novel	p.Tyr720Ter	stop gained	-	NC_000012.12:g.54402067G>T	NCI-TCGA
rs1461853382	p.Phe721Val	missense variant	-	NC_000012.12:g.54402066A>C	gnomAD
rs1172389465	p.Ala722Val	missense variant	-	NC_000012.12:g.54402062G>A	gnomAD
rs1420936429	p.Ala722Thr	missense variant	-	NC_000012.12:g.54402063C>T	gnomAD
rs748546935	p.Val723Leu	missense variant	-	NC_000012.12:g.54402060C>G	ExAC,TOPMed,gnomAD
rs748546935	p.Val723Met	missense variant	-	NC_000012.12:g.54402060C>T	ExAC,TOPMed,gnomAD
rs1444046775	p.Asn724Thr	missense variant	-	NC_000012.12:g.54402056T>G	gnomAD
rs551709163	p.Gln725Lys	missense variant	-	NC_000012.12:g.54402054G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs766902219	p.Arg727His	missense variant	-	NC_000012.12:g.54402047C>T	ExAC,TOPMed,gnomAD
rs754279262	p.Arg727Cys	missense variant	-	NC_000012.12:g.54402048G>A	ExAC,TOPMed,gnomAD
rs766902219	p.Arg727Leu	missense variant	-	NC_000012.12:g.54402047C>A	ExAC,TOPMed,gnomAD
rs751328003	p.Leu733Pro	missense variant	-	NC_000012.12:g.54402029A>G	ExAC,gnomAD
rs1256123423	p.Gly734Ser	missense variant	-	NC_000012.12:g.54402027C>T	TOPMed
rs1242771749	p.Asn735Ser	missense variant	-	NC_000012.12:g.54402023T>C	gnomAD
NCI-TCGA novel	p.Pro736Leu	missense variant	-	NC_000012.12:g.54402020G>A	NCI-TCGA
rs763502818	p.Lys738Thr	missense variant	-	NC_000012.12:g.54402014T>G	ExAC,gnomAD
rs775220608	p.Ala739Ser	missense variant	-	NC_000012.12:g.54402012C>A	ExAC,TOPMed,gnomAD
rs775220608	p.Ala739Pro	missense variant	-	NC_000012.12:g.54402012C>G	ExAC,TOPMed,gnomAD
rs1446431138	p.Ala739Gly	missense variant	-	NC_000012.12:g.54402011G>C	TOPMed,gnomAD
rs765249062	p.Gly740Arg	missense variant	-	NC_000012.12:g.54402009C>T	ExAC,TOPMed,gnomAD
rs140414186	p.Ala741Asp	missense variant	-	NC_000012.12:g.54402005G>T	ESP,ExAC,TOPMed,gnomAD
rs144976814	p.Ser742Arg	missense variant	-	NC_000012.12:g.54402001A>C	ESP,gnomAD
rs766148350	p.Leu743Val	missense variant	-	NC_000012.12:g.54401855G>C	ExAC,gnomAD
rs1453356459	p.Gly745Asp	missense variant	-	NC_000012.12:g.54401848C>T	gnomAD
rs1197054121	p.Gly745Ser	missense variant	-	NC_000012.12:g.54401849C>T	gnomAD
rs1214989001	p.Gly746Asp	missense variant	-	NC_000012.12:g.54401845C>T	TOPMed
rs773265895	p.Arg748Trp	missense variant	-	NC_000012.12:g.54401840G>A	ExAC,TOPMed,gnomAD
rs1288870764	p.Thr750Ser	missense variant	-	NC_000012.12:g.54401834T>A	gnomAD
rs149930559	p.Thr750Ile	missense variant	-	NC_000012.12:g.54401833G>A	ESP,ExAC,TOPMed
COSM3462787	p.Pro752Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54401828G>A	NCI-TCGA Cosmic
rs910355058	p.His753Leu	missense variant	-	NC_000012.12:g.54401824T>A	TOPMed
rs868446047	p.His753Tyr	missense variant	-	NC_000012.12:g.54401825G>A	gnomAD
rs910355058	p.His753Pro	missense variant	-	NC_000012.12:g.54401824T>G	TOPMed
COSM3462786	p.Leu754Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54401822G>A	NCI-TCGA Cosmic
rs201887725	p.Leu754Ile	missense variant	-	NC_000012.12:g.54401822G>T	ESP,ExAC,TOPMed,gnomAD
rs780724522	p.Arg755Trp	missense variant	-	NC_000012.12:g.54401819G>A	ExAC,TOPMed,gnomAD
rs139168891	p.Arg755Gln	missense variant	-	NC_000012.12:g.54401818C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs746271167	p.Asp756Asn	missense variant	-	NC_000012.12:g.54401816C>T	ExAC,gnomAD
rs746271167	p.Asp756Tyr	missense variant	-	NC_000012.12:g.54401816C>A	ExAC,gnomAD
rs777240132	p.Thr757Pro	missense variant	-	NC_000012.12:g.54401813T>G	ExAC,gnomAD
rs1362305130	p.Gln762His	missense variant	-	NC_000012.12:g.54401796C>G	TOPMed,gnomAD
rs1379994144	p.Gln762Arg	missense variant	-	NC_000012.12:g.54401797T>C	TOPMed
rs1362305130	p.Gln762His	missense variant	-	NC_000012.12:g.54401796C>A	TOPMed,gnomAD
rs1159192284	p.Phe763Ser	missense variant	-	NC_000012.12:g.54401794A>G	gnomAD
rs1296053898	p.Phe763Val	missense variant	-	NC_000012.12:g.54401795A>C	TOPMed
rs758043646	p.Asp764Tyr	missense variant	-	NC_000012.12:g.54401792C>A	ExAC,TOPMed,gnomAD
rs1009991987	p.Gln766Ter	stop gained	-	NC_000012.12:g.54401786G>A	TOPMed
rs150793784	p.Leu768Phe	missense variant	-	NC_000012.12:g.54401780G>A	ESP,TOPMed
rs150793784	p.Leu768Ile	missense variant	-	NC_000012.12:g.54401780G>T	ESP,TOPMed
COSM75039	p.Ser769Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54401665G>C	NCI-TCGA Cosmic
rs746408856	p.Asn773Lys	missense variant	-	NC_000012.12:g.54401653G>T	ExAC,gnomAD
COSM123795	p.Gln776Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54401645T>A	NCI-TCGA Cosmic
rs771265500	p.Ser777Arg	missense variant	-	NC_000012.12:g.54401641G>T	ExAC,TOPMed,gnomAD
rs546562426	p.Asp778Glu	missense variant	-	NC_000012.12:g.54401638G>C	1000Genomes,ExAC,gnomAD
rs868268173	p.Asp778Asn	missense variant	-	NC_000012.12:g.54401640C>T	TOPMed,gnomAD
rs778548618	p.Val779Met	missense variant	-	NC_000012.12:g.54401637C>T	ExAC,TOPMed,gnomAD
rs754445538	p.Ser781Phe	missense variant	-	NC_000012.12:g.54401630G>A	ExAC,TOPMed,gnomAD
rs369973451	p.Arg783Gln	missense variant	-	NC_000012.12:g.54401624C>T	ExAC,TOPMed
rs779590743	p.Arg783Trp	missense variant	-	NC_000012.12:g.54401625G>A	ExAC,gnomAD
rs369973451	p.Arg783Leu	missense variant	-	NC_000012.12:g.54401624C>A	ExAC,TOPMed
rs369973451	p.Arg783Pro	missense variant	-	NC_000012.12:g.54401624C>G	ExAC,TOPMed
rs751768127	p.Val786Met	missense variant	-	NC_000012.12:g.54401616C>T	ExAC,TOPMed,gnomAD
rs768820055	p.Gln791Arg	missense variant	-	NC_000012.12:g.54401600T>C	ExAC,TOPMed,gnomAD
rs1404910124	p.Thr793Ile	missense variant	-	NC_000012.12:g.54401594G>A	gnomAD
rs374858882	p.Gly796Ser	missense variant	-	NC_000012.12:g.54401586C>T	ESP,ExAC,TOPMed,gnomAD
COSM941133	p.Ser798Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54401474A>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser798Pro	missense variant	-	NC_000012.12:g.54401474A>G	NCI-TCGA
COSM3792783	p.Glu801Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54401465C>T	NCI-TCGA Cosmic
rs755641220	p.Ala802Thr	missense variant	-	NC_000012.12:g.54401462C>T	ExAC,gnomAD
rs745764294	p.Phe805Leu	missense variant	-	NC_000012.12:g.54401451G>T	ExAC,TOPMed,gnomAD
rs1037784364	p.Val807Gly	missense variant	-	NC_000012.12:g.54401446A>C	gnomAD
rs1190297564	p.Val807Leu	missense variant	-	NC_000012.12:g.54401447C>G	gnomAD
rs781001104	p.Asp809Asn	missense variant	-	NC_000012.12:g.54401441C>T	ExAC,TOPMed,gnomAD
rs995429588	p.Trp810Cys	missense variant	-	NC_000012.12:g.54401436C>G	TOPMed
rs1476087862	p.Pro812Leu	missense variant	-	NC_000012.12:g.54401431G>A	TOPMed
rs757032816	p.Arg813Gly	missense variant	-	NC_000012.12:g.54401429G>C	ExAC,gnomAD
rs552722363	p.Arg813Gln	missense variant	-	NC_000012.12:g.54401428C>T	1000Genomes,ExAC,gnomAD
rs757032816	p.Arg813Ter	stop gained	-	NC_000012.12:g.54401429G>A	ExAC,gnomAD
rs764027211	p.Asp814Asn	missense variant	-	NC_000012.12:g.54401426C>T	ExAC,TOPMed,gnomAD
rs2700161	p.Pro816Ser	missense variant	-	NC_000012.12:g.54401420G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1307925782	p.Gln817Arg	missense variant	-	NC_000012.12:g.54401416T>C	gnomAD
rs1171835178	p.Glu819Lys	missense variant	-	NC_000012.12:g.54401411C>T	TOPMed
rs753032812	p.Glu819Asp	missense variant	-	NC_000012.12:g.54401409C>A	ExAC,gnomAD
rs765345142	p.Ala825Val	missense variant	-	NC_000012.12:g.54401392G>A	ExAC,TOPMed,gnomAD
rs1377633026	p.Val826Leu	missense variant	-	NC_000012.12:g.54401390C>G	TOPMed
rs116375844	p.His827Tyr	missense variant	-	NC_000012.12:g.54401387G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1421856543	p.His828Gln	missense variant	-	NC_000012.12:g.54401382A>C	gnomAD
NCI-TCGA novel	p.His828Gln	missense variant	-	NC_000012.12:g.54401382A>T	NCI-TCGA
rs1364771262	p.Val829Ile	missense variant	-	NC_000012.12:g.54401381C>T	gnomAD
rs758324571	p.Asn834Ser	missense variant	-	NC_000012.12:g.54400988T>C	ExAC,gnomAD
rs758324571	p.Asn834Thr	missense variant	-	NC_000012.12:g.54400988T>G	ExAC,gnomAD
rs779006818	p.Gln835Arg	missense variant	-	NC_000012.12:g.54400985T>C	ExAC,gnomAD
rs532056767	p.Gln835Lys	missense variant	-	NC_000012.12:g.54400986G>T	ExAC,TOPMed,gnomAD
rs532056767	p.Gln835Glu	missense variant	-	NC_000012.12:g.54400986G>C	ExAC,TOPMed,gnomAD
rs1327529649	p.Ile840Val	missense variant	-	NC_000012.12:g.54400971T>C	gnomAD
rs1312646179	p.Gly843Asp	missense variant	-	NC_000012.12:g.54400961C>T	gnomAD
rs1471358868	p.Glu846Ala	missense variant	-	NC_000012.12:g.54400952T>G	TOPMed
rs753840440	p.Ala852Thr	missense variant	-	NC_000012.12:g.54400935C>T	ExAC,TOPMed,gnomAD
rs766520730	p.Glu854Gly	missense variant	-	NC_000012.12:g.54400928T>C	ExAC,gnomAD
rs1172181613	p.Leu858Pro	missense variant	-	NC_000012.12:g.54400916A>G	gnomAD
rs750988212	p.Leu858Val	missense variant	-	NC_000012.12:g.54400917G>C	ExAC,gnomAD
rs750988212	p.Leu858Phe	missense variant	-	NC_000012.12:g.54400917G>A	ExAC,gnomAD
rs1367764002	p.Val861Ala	missense variant	-	NC_000012.12:g.54400907A>G	gnomAD
rs775173115	p.Thr862Ser	missense variant	-	NC_000012.12:g.54400904G>C	ExAC,gnomAD
rs1425291898	p.Arg863Gly	missense variant	-	NC_000012.12:g.54400902T>C	gnomAD
rs767288282	p.Arg863Thr	missense variant	-	NC_000012.12:g.54400901C>G	-
rs1167789221	p.Val864Ile	missense variant	-	NC_000012.12:g.54400899C>T	TOPMed
rs138321035	p.Thr865Met	missense variant	-	NC_000012.12:g.54400895G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138321035	p.Thr865Lys	missense variant	-	NC_000012.12:g.54400895G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM4899608	p.Gly866Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54400892C>A	NCI-TCGA Cosmic
rs1376684557	p.Leu867Pro	missense variant	-	NC_000012.12:g.54400889A>G	gnomAD
rs1197565520	p.Leu867Phe	missense variant	-	NC_000012.12:g.54400890G>A	gnomAD
rs756867133	p.Asn868Thr	missense variant	-	NC_000012.12:g.54400886T>G	ExAC,TOPMed,gnomAD
rs756867133	p.Asn868Ser	missense variant	-	NC_000012.12:g.54400886T>C	ExAC,TOPMed,gnomAD
rs747987452	p.Thr870Ser	missense variant	-	NC_000012.12:g.54400880G>C	ExAC,gnomAD
rs1316148542	p.Asn872Ser	missense variant	-	NC_000012.12:g.54400874T>C	TOPMed,gnomAD
rs149400640	p.His873Gln	missense variant	-	NC_000012.12:g.54400870G>T	ESP,ExAC,TOPMed,gnomAD
rs138908099	p.Pro874Leu	missense variant	-	NC_000012.12:g.54400868G>A	ESP,ExAC,TOPMed,gnomAD
rs1389425191	p.Pro877Ser	missense variant	-	NC_000012.12:g.54400860G>A	TOPMed,gnomAD
rs754157745	p.Gly879Ala	missense variant	-	NC_000012.12:g.54400853C>G	ExAC,gnomAD
rs1160993168	p.Gly879Ser	missense variant	-	NC_000012.12:g.54400854C>T	gnomAD
NCI-TCGA novel	p.Gly879Asp	missense variant	-	NC_000012.12:g.54400853C>T	NCI-TCGA
rs1270274731	p.Leu880Arg	missense variant	-	NC_000012.12:g.54400850A>C	TOPMed
rs1197531574	p.Leu880Val	missense variant	-	NC_000012.12:g.54400851G>C	TOPMed
rs868578677	p.Glu881Ter	stop gained	-	NC_000012.12:g.54400848C>A	TOPMed
rs757727043	p.Asp883Tyr	missense variant	-	NC_000012.12:g.54399944C>A	ExAC,TOPMed,gnomAD
rs752172963	p.Pro884His	missense variant	-	NC_000012.12:g.54399940G>T	ExAC,gnomAD
rs867921931	p.Glu885Ter	stop gained	-	NC_000012.12:g.54399938C>A	TOPMed,gnomAD
rs1343847075	p.Glu885Gly	missense variant	-	NC_000012.12:g.54399937T>C	gnomAD
rs867921931	p.Glu885Gln	missense variant	-	NC_000012.12:g.54399938C>G	TOPMed,gnomAD
rs867921931	p.Glu885Lys	missense variant	-	NC_000012.12:g.54399938C>T	TOPMed,gnomAD
rs186738212	p.Gly886Arg	missense variant	-	NC_000012.12:g.54399935C>G	1000Genomes,ExAC,TOPMed,gnomAD
COSM941132	p.Ser887Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54399932A>G	NCI-TCGA Cosmic
rs1289470473	p.Ser887Thr	missense variant	-	NC_000012.12:g.54399932A>T	TOPMed
rs1370379554	p.Ser887Phe	missense variant	-	NC_000012.12:g.54399931G>A	TOPMed
rs753364148	p.Leu888Val	missense variant	-	NC_000012.12:g.54399929G>C	ExAC,gnomAD
rs1398040309	p.Gln892Lys	missense variant	-	NC_000012.12:g.54399917G>T	gnomAD
rs368518591	p.Arg894Trp	missense variant	-	NC_000012.12:g.54399911G>A	ESP,ExAC,TOPMed,gnomAD
rs1318717182	p.Arg894Pro	missense variant	-	NC_000012.12:g.54399910C>G	gnomAD
rs1318717182	p.Arg894Gln	missense variant	-	NC_000012.12:g.54399910C>T	gnomAD
rs761644145	p.Glu895Lys	missense variant	-	NC_000012.12:g.54399908C>T	ExAC,gnomAD
rs1400812713	p.Glu895Ala	missense variant	-	NC_000012.12:g.54399907T>G	gnomAD
NCI-TCGA novel	p.Glu895LysPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.54399908C>-	NCI-TCGA
rs774360435	p.Ala896Ser	missense variant	-	NC_000012.12:g.54399905C>A	ExAC,TOPMed,gnomAD
rs774360435	p.Ala896Pro	missense variant	-	NC_000012.12:g.54399905C>G	ExAC,TOPMed,gnomAD
rs768271279	p.Ser898Cys	missense variant	-	NC_000012.12:g.54399899T>A	ExAC,TOPMed,gnomAD
rs749141980	p.Arg899Gly	missense variant	-	NC_000012.12:g.54399896G>C	ExAC,gnomAD
rs775645257	p.Arg899His	missense variant	-	NC_000012.12:g.54399895C>T	ExAC,TOPMed,gnomAD
rs749141980	p.Arg899Cys	missense variant	-	NC_000012.12:g.54399896G>A	ExAC,gnomAD
rs200896534	p.Ser901Phe	missense variant	-	NC_000012.12:g.54399889G>A	ESP,ExAC,TOPMed,gnomAD
COSM3871963	p.Ser903Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54399883G>A	NCI-TCGA Cosmic
rs746124596	p.Ser904Leu	missense variant	-	NC_000012.12:g.54399880G>A	ExAC,TOPMed,gnomAD
rs781241721	p.Pro906Ser	missense variant	-	NC_000012.12:g.54399875G>A	ExAC,gnomAD
rs1391920482	p.Pro906Arg	missense variant	-	NC_000012.12:g.54399874G>C	gnomAD
rs757413351	p.Ile908Ser	missense variant	-	NC_000012.12:g.54399868A>C	ExAC,TOPMed,gnomAD
rs142652896	p.Pro912Leu	missense variant	-	NC_000012.12:g.54399751G>A	ESP,ExAC,TOPMed,gnomAD
rs1185868214	p.Glu915Lys	missense variant	-	NC_000012.12:g.54399743C>T	gnomAD
rs762843772	p.Cys916Arg	missense variant	-	NC_000012.12:g.54399740A>G	ExAC,gnomAD
rs138614417	p.Phe917Cys	missense variant	-	NC_000012.12:g.54399736A>C	ESP,ExAC,TOPMed,gnomAD
rs138614417	p.Phe917Ser	missense variant	-	NC_000012.12:g.54399736A>G	ESP,ExAC,TOPMed,gnomAD
rs138614417	p.Phe917Tyr	missense variant	-	NC_000012.12:g.54399736A>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg918Trp	missense variant	-	NC_000012.12:g.54399734T>A	NCI-TCGA
NCI-TCGA novel	p.Leu919Met	missense variant	-	NC_000012.12:g.54399731G>T	NCI-TCGA
rs759744172	p.Arg920Cys	missense variant	-	NC_000012.12:g.54399728G>A	ExAC,gnomAD
rs899436783	p.Arg920His	missense variant	-	NC_000012.12:g.54399727C>T	TOPMed,gnomAD
rs776855334	p.Glu922Lys	missense variant	-	NC_000012.12:g.54399722C>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu923Pro	missense variant	-	NC_000012.12:g.54399718A>G	NCI-TCGA
rs201031426	p.Gly924Arg	missense variant	-	NC_000012.12:g.54399716C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs201031426	p.Gly924Arg	missense variant	-	NC_000012.12:g.54399716C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs772610449	p.Pro925Ser	missense variant	-	NC_000012.12:g.54399713G>A	ExAC,gnomAD
rs748731524	p.Pro925His	missense variant	-	NC_000012.12:g.54399712G>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro925Leu	missense variant	-	NC_000012.12:g.54399712G>A	NCI-TCGA
rs779406495	p.Gln928Lys	missense variant	-	NC_000012.12:g.54399704G>T	ExAC,TOPMed,gnomAD
rs1405272562	p.Ser931Thr	missense variant	-	NC_000012.12:g.54399694C>G	gnomAD
rs375343882	p.Ser931Arg	missense variant	-	NC_000012.12:g.54399693G>T	ESP,ExAC,gnomAD
rs750027552	p.Gln935Arg	missense variant	-	NC_000012.12:g.54399682T>C	ExAC,gnomAD
rs1451767181	p.Leu936Trp	missense variant	-	NC_000012.12:g.54399679A>C	TOPMed
COSM941130	p.His937Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54399676T>C	NCI-TCGA Cosmic
rs1237134836	p.Arg939Gln	missense variant	-	NC_000012.12:g.54399670C>T	gnomAD
NCI-TCGA novel	p.Arg939Ter	stop gained	-	NC_000012.12:g.54399671G>A	NCI-TCGA
rs878972350	p.Val940Ile	missense variant	-	NC_000012.12:g.54399668C>T	TOPMed,gnomAD
rs878972350	p.Val940Phe	missense variant	-	NC_000012.12:g.54399668C>A	TOPMed,gnomAD
rs1481432817	p.Trp941Cys	missense variant	-	NC_000012.12:g.54399663C>A	gnomAD
rs922797052	p.Lys943Asn	missense variant	-	NC_000012.12:g.54399657C>G	TOPMed
rs751055025	p.Leu946Ser	missense variant	-	NC_000012.12:g.54399649A>G	ExAC,TOPMed
rs377040337	p.Arg948Trp	missense variant	-	NC_000012.12:g.54398698G>A	ESP,ExAC,TOPMed,gnomAD
rs370125974	p.Arg948Gln	missense variant	-	NC_000012.12:g.54398697C>T	ESP,ExAC,TOPMed,gnomAD
rs150955083	p.Gln951His	missense variant	-	NC_000012.12:g.54398687C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1217757644	p.Gln951Arg	missense variant	-	NC_000012.12:g.54398688T>C	gnomAD
rs142582287	p.Ser954Asn	missense variant	-	NC_000012.12:g.54398679C>T	ESP,ExAC,TOPMed,gnomAD
rs1226249589	p.Gln956Lys	missense variant	-	NC_000012.12:g.54398674G>T	TOPMed
rs1406064291	p.Gln956Arg	missense variant	-	NC_000012.12:g.54398673T>C	gnomAD
rs752566250	p.Glu958Asp	missense variant	-	NC_000012.12:g.54398666C>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu958Val	missense variant	-	NC_000012.12:g.54398667T>A	NCI-TCGA
rs765192718	p.Ala959Val	missense variant	-	NC_000012.12:g.54398664G>A	ExAC,gnomAD
rs1287479521	p.Ala959Thr	missense variant	-	NC_000012.12:g.54398665C>T	gnomAD
NCI-TCGA novel	p.Ala963Asp	missense variant	-	NC_000012.12:g.54398652G>T	NCI-TCGA
rs754720093	p.Ala963Val	missense variant	-	NC_000012.12:g.54398652G>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu964Val	missense variant	-	NC_000012.12:g.54398650G>C	NCI-TCGA
rs1174944946	p.Pro967Arg	missense variant	-	NC_000012.12:g.54398640G>C	gnomAD
COSM5704500	p.Arg969Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.54398635G>A	NCI-TCGA Cosmic
rs538642834	p.Arg969Gln	missense variant	-	NC_000012.12:g.54398634C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1185492003	p.Ile970Ser	missense variant	-	NC_000012.12:g.54398631A>C	gnomAD
rs1250095026	p.Pro972Leu	missense variant	-	NC_000012.12:g.54398625G>A	TOPMed
rs1250095026	p.Pro972His	missense variant	-	NC_000012.12:g.54398625G>T	TOPMed
rs766127225	p.Arg973Trp	missense variant	-	NC_000012.12:g.54398623G>A	ExAC,TOPMed,gnomAD
rs1477449283	p.Arg973Gln	missense variant	-	NC_000012.12:g.54398622C>T	gnomAD
NCI-TCGA novel	p.Gln974Leu	missense variant	-	NC_000012.12:g.54398619T>A	NCI-TCGA
rs773318883	p.Leu975Gln	missense variant	-	NC_000012.12:g.54398616A>T	ExAC,gnomAD
rs1261489504	p.Pro976Thr	missense variant	-	NC_000012.12:g.54398614G>T	gnomAD
rs762012604	p.Gln977Lys	missense variant	-	NC_000012.12:g.54398611G>T	ExAC,gnomAD
rs577771775	p.Glu979Lys	missense variant	-	NC_000012.12:g.54398605C>T	1000Genomes,ExAC,gnomAD
rs577771775	p.Glu979Gln	missense variant	-	NC_000012.12:g.54398605C>G	1000Genomes,ExAC,gnomAD
rs775915497	p.Glu979Gly	missense variant	-	NC_000012.12:g.54398604T>C	ExAC,gnomAD
COSM694655	p.Arg980Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54398602G>T	NCI-TCGA Cosmic
rs145576475	p.Arg980His	missense variant	-	NC_000012.12:g.54398601C>T	ESP,ExAC,TOPMed,gnomAD
rs1294078639	p.Arg980Cys	missense variant	-	NC_000012.12:g.54398602G>A	gnomAD
rs1363132970	p.Gln981His	missense variant	-	NC_000012.12:g.54398597C>G	gnomAD
rs1234563064	p.Ala985Pro	missense variant	-	NC_000012.12:g.54397478C>G	gnomAD
NCI-TCGA novel	p.Ala985Asp	missense variant	-	NC_000012.12:g.54397477G>T	NCI-TCGA
rs1314783878	p.Val986Met	missense variant	-	NC_000012.12:g.54397475C>T	TOPMed,gnomAD
rs1314783878	p.Val986Leu	missense variant	-	NC_000012.12:g.54397475C>G	TOPMed,gnomAD
rs763536782	p.Gln987His	missense variant	-	NC_000012.12:g.54397470T>G	ExAC,gnomAD
rs1287351831	p.Gln987Glu	missense variant	-	NC_000012.12:g.54397472G>C	TOPMed,gnomAD
rs1384464624	p.Trp988Arg	missense variant	-	NC_000012.12:g.54397469A>G	gnomAD
rs1337003227	p.Glu992Lys	missense variant	-	NC_000012.12:g.54397457C>T	gnomAD
rs775877636	p.Gly993Ser	missense variant	-	NC_000012.12:g.54397454C>T	ExAC,gnomAD
rs746251804	p.Ser994Thr	missense variant	-	NC_000012.12:g.54397450C>G	ExAC,gnomAD
rs1161364374	p.Val997Ala	missense variant	-	NC_000012.12:g.54397441A>G	gnomAD
rs771692164	p.Val997Phe	missense variant	-	NC_000012.12:g.54397442C>A	ExAC,gnomAD
rs977571189	p.Ile1001Thr	missense variant	-	NC_000012.12:g.54397429A>G	TOPMed
rs966471511	p.Ile1003Val	missense variant	-	NC_000012.12:g.54397424T>C	TOPMed
NCI-TCGA novel	p.Leu1004Ile	missense variant	-	NC_000012.12:g.54397421G>T	NCI-TCGA
NCI-TCGA novel	p.Ala1005Ser	missense variant	-	NC_000012.12:g.54397418C>A	NCI-TCGA
rs778390918	p.Ile1006Thr	missense variant	-	NC_000012.12:g.54397414A>G	ExAC,gnomAD
rs779885364	p.Leu1012Pro	missense variant	-	NC_000012.12:g.54397396A>G	ExAC,gnomAD
rs369205279	p.Gly1014Asp	missense variant	-	NC_000012.12:g.54397390C>T	ESP,ExAC,TOPMed,gnomAD
rs369205279	p.Gly1014Ala	missense variant	-	NC_000012.12:g.54397390C>G	ESP,ExAC,TOPMed,gnomAD
rs750159527	p.Gly1014Ser	missense variant	-	NC_000012.12:g.54397391C>T	ExAC,gnomAD
rs551945113	p.Ile1019Val	missense variant	-	NC_000012.12:g.54397376T>C	1000Genomes,ExAC,gnomAD
rs1162938214	p.Ile1019Met	missense variant	-	NC_000012.12:g.54397374G>C	gnomAD
rs371275826	p.Tyr1021Cys	missense variant	-	NC_000012.12:g.54397369T>C	ESP
rs1237849318	p.Lys1022Glu	missense variant	-	NC_000012.12:g.54397367T>C	gnomAD
rs146045476	p.Lys1027Arg	missense variant	-	NC_000012.12:g.54396363T>C	ESP,TOPMed
rs761442280	p.Lys1027Gln	missense variant	-	NC_000012.12:g.54396364T>G	ExAC,gnomAD
rs372996288	p.Arg1028His	missense variant	-	NC_000012.12:g.54396360C>T	ExAC,TOPMed,gnomAD
rs372996288	p.Arg1028Pro	missense variant	-	NC_000012.12:g.54396360C>G	ExAC,TOPMed,gnomAD
rs773995957	p.Arg1028Cys	missense variant	-	NC_000012.12:g.54396361G>A	ExAC,TOPMed,gnomAD
rs779662025	p.Ser1029Tyr	missense variant	-	NC_000012.12:g.54396357G>T	ExAC,TOPMed,gnomAD
rs779662025	p.Ser1029Phe	missense variant	-	NC_000012.12:g.54396357G>A	ExAC,TOPMed,gnomAD
rs372651499	p.Tyr1032Cys	missense variant	-	NC_000012.12:g.54396348T>C	ESP,ExAC,gnomAD
rs1231829539	p.Gly1033Ser	missense variant	-	NC_000012.12:g.54396346C>T	TOPMed
rs1382997103	p.Gly1033Asp	missense variant	-	NC_000012.12:g.54396345C>T	gnomAD
rs144200176	p.Ala1035Thr	missense variant	-	NC_000012.12:g.54396340C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs757127027	p.Met1036Val	missense variant	-	NC_000012.12:g.54396337T>C	ExAC,gnomAD
rs751768048	p.Met1036Thr	missense variant	-	NC_000012.12:g.54396336A>G	ExAC,TOPMed,gnomAD
rs1463878044	p.Pro1043Thr	missense variant	-	NC_000012.12:g.54396316G>T	TOPMed
rs1192849147	p.Ala1045Asp	missense variant	-	NC_000012.12:g.54396309G>T	gnomAD
rs758458905	p.Ser1047Pro	missense variant	-	NC_000012.12:g.54396304A>G	ExAC
rs953624491	p.Ter1050Ser	stop lost	-	NC_000012.12:g.54396294C>G	TOPMed

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0002448	Ameloblastoma	disease	LHGDN
C0004238	Atrial Fibrillation	disease	BEFREE
C0005684	Malignant neoplasm of urinary bladder	disease	BEFREE
C0005695	Bladder Neoplasm	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007134	Renal Cell Carcinoma	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	BEFREE;CTD_human;LHGDN
C0007138	Carcinoma, Transitional Cell	disease	BEFREE
C0007847	Malignant tumor of cervix	disease	BEFREE
C0009375	Colonic Neoplasms	group	LHGDN
C0009402	Colorectal Carcinoma	disease	BEFREE
C0011644	Scleroderma	disease	BEFREE
C0013264	Muscular Dystrophy, Duchenne	disease	BEFREE
C0014175	Endometriosis	disease	BEFREE
C0016057	Fibrosarcoma	disease	BEFREE
C0017609	Glaucoma, Neovascular	disease	BEFREE
C0017636	Glioblastoma	disease	BEFREE
C0017638	Glioma	disease	BEFREE;LHGDN
C0017639	Gliosis	phenotype	CTD_human
C0019163	Hepatitis B	disease	BEFREE
C0019189	Hepatitis, Chronic	disease	BEFREE
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE
C0024117	Chronic Obstructive Airway Disease	disease	BEFREE
C0024121	Lung Neoplasms	group	LHGDN
C0024623	Malignant neoplasm of stomach	disease	BEFREE;CTD_human
C0024899	Mastocytosis	disease	BEFREE
C0025007	Measles	disease	BEFREE
C0025202	melanoma	disease	BEFREE
C0026764	Multiple Myeloma	disease	BEFREE
C0027626	Neoplasm Invasiveness	phenotype	CTD_human
C0027627	Neoplasm Metastasis	phenotype	BEFREE;LHGDN
C0027819	Neuroblastoma	group	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0031029	Periapical Granuloma	disease	BEFREE
C0032285	Pneumonia	disease	BEFREE
C0033578	Prostatic Neoplasms	group	LHGDN
C0034067	Pulmonary Emphysema	disease	BEFREE
C0035126	Reperfusion Injury	disease	CTD_human
C0036220	Kaposi Sarcoma	disease	BEFREE
C0036421	Systemic Scleroderma	disease	BEFREE
C0038356	Stomach Neoplasms	group	CTD_human
C0153594	Malignant neoplasm of testis	disease	BEFREE
C0153690	Secondary malignant neoplasm of bone	disease	BEFREE
C0178874	Tumor Progression	phenotype	BEFREE
C0206718	Ganglioneuroblastoma	disease	BEFREE
C0235974	Pancreatic carcinoma	disease	BEFREE
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0242596	Neoplasm, Residual	phenotype	BEFREE
C0259779	Fibrous Dysplasia	disease	BEFREE
C0264757	Rheumatic disease of heart valve	disease	BEFREE
C0278687	Ovarian cancer stage III	disease	BEFREE
C0279702	Conventional (Clear Cell) Renal Cell Carcinoma	disease	BEFREE
C0302592	Cervix carcinoma	disease	BEFREE
C0334579	Anaplastic astrocytoma	disease	BEFREE
C0339573	Glaucoma, Primary Open Angle	disease	BEFREE
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0376544	Hematopoietic Neoplasms	group	BEFREE
C0494165	Secondary malignant neoplasm of liver	disease	BEFREE
C0549473	Thyroid carcinoma	disease	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0677886	Epithelial ovarian cancer	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0699885	Carcinoma of bladder	disease	BEFREE
C0700095	Central neuroblastoma	disease	BEFREE
C0750952	Biliary Tract Cancer	disease	BEFREE
C0751633	Carotid Artery Plaque	phenotype	BEFREE
C0919267	ovarian neoplasm	disease	LHGDN
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1334953	Neuroblastic tumors	disease	BEFREE
C1458155	Mammary Neoplasms	group	BEFREE
C1519666	Tumor-Associated Vasculature	phenotype	BEFREE
C1519670	Tumor Angiogenesis	phenotype	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1621958	Glioblastoma Multiforme	disease	BEFREE
C1708349	Hereditary Diffuse Gastric Cancer	disease	CTD_human
C1865868	ALZHEIMER DISEASE 5	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE
C2607929	Carney Complex, Type 1	disease	BEFREE
C2939420	Metastatic Neoplasm	phenotype	BEFREE
C3539878	Triple Negative Breast Neoplasms	disease	BEFREE
C3714514	Infection	group	LHGDN
C3714636	Pneumonitis	disease	BEFREE
C3887640	Astrocytosis	phenotype	CTD_human
C4048328	cervical cancer	disease	BEFREE
C4086165	Childhood Neuroblastoma	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0001618	virus receptor activity	IEA
GO:0005154	epidermal growth factor receptor binding	IEA
GO:0005161	platelet-derived growth factor receptor binding	TAS
GO:0005178	integrin binding	IEA
GO:0005515	protein binding	IPI
GO:0043184	vascular endothelial growth factor receptor 2 binding	TAS
GO:0046872	metal ion binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001525	angiogenesis	TAS
GO:0007044	cell-substrate junction assembly	IEA
GO:0007155	cell adhesion	IDA
GO:0007157	heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IEA
GO:0007159	leukocyte cell-cell adhesion	IEA
GO:0007229	integrin-mediated signaling pathway	IDA
GO:0007565	female pregnancy	IEA
GO:0007613	memory	IEA
GO:0010811	positive regulation of cell-substrate adhesion	IEA
GO:0023035	CD40 signaling pathway	IDA
GO:0030198	extracellular matrix organization	TAS
GO:0030335	positive regulation of cell migration	IEA
GO:0030949	positive regulation of vascular endothelial growth factor receptor signaling pathway	TAS
GO:0031589	cell-substrate adhesion	IMP
GO:0033627	cell adhesion mediated by integrin	IDA
GO:0033631	cell-cell adhesion mediated by integrin	IEA
GO:0034113	heterotypic cell-cell adhesion	IMP
GO:0035313	wound healing, spreading of epidermal cells	IEP
GO:0035987	endodermal cell differentiation	IMP
GO:0046718	viral entry into host cell	IEA
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IMP
GO:0050900	leukocyte migration	TAS
GO:1903672	positive regulation of sprouting angiogenesis	IMP
GO:2000811	negative regulation of anoikis	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0001726	ruffle	TAS
GO:0005783	endoplasmic reticulum	IEA
GO:0005794	Golgi apparatus	IEA
GO:0005886	plasma membrane	IDA
GO:0005886	plasma membrane	TAS
GO:0005925	focal adhesion	IDA
GO:0005925	focal adhesion	HDA
GO:0008305	integrin complex	TAS
GO:0009897	external side of plasma membrane	IEA
GO:0009986	cell surface	IDA
GO:0009986	cell surface	HDA
GO:0031410	cytoplasmic vesicle	IEA
GO:0034674	integrin alpha5-beta1 complex	IDA
GO:0045202	synapse	IEA
GO:0071062	alphav-beta3 integrin-vitronectin complex	TAS
GO:0005911	cell-cell junction	IDA
GO:0032587	ruffle membrane	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-109582	Hemostasis	TAS
R-HSA-1266738	Developmental Biology	TAS
R-HSA-1474244	Extracellular matrix organization	TAS
R-HSA-1474244	Extracellular matrix organization	IEA
R-HSA-1566948	Elastic fibre formation	TAS
R-HSA-1566977	Fibronectin matrix formation	TAS
R-HSA-202733	Cell surface interactions at the vascular wall	TAS
R-HSA-212436	Generic Transcription Pathway	TAS
R-HSA-216083	Integrin cell surface interactions	TAS
R-HSA-216083	Integrin cell surface interactions	IEA
R-HSA-373760	L1CAM interactions	TAS
R-HSA-422475	Axon guidance	TAS
R-HSA-445144	Signal transduction by L1	TAS
R-HSA-73857	RNA Polymerase II Transcription	TAS
R-HSA-74160	Gene expression (Transcription)	TAS
R-HSA-8878166	Transcriptional regulation by RUNX2	TAS
R-HSA-8941332	RUNX2 regulates genes involved in cell migration	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
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 bis(4-hydroxyphenyl)sulfone] results in decreased expression of ITGA5 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 A] results in decreased expression of ITGA5 mRNA	28628672
D015058	1-Naphthylisothiocyanate	1-Naphthylisothiocyanate results in increased expression of [ITGB6 protein co-treated with ITGA5 protein]	21037076
D015058	1-Naphthylisothiocyanate	[1-Naphthylisothiocyanate results in increased expression of [ITGB6 protein co-treated with ITGA5 protein]] which results in increased activity of TGFB1 protein	21037076
D015058	1-Naphthylisothiocyanate	F2R protein promotes the reaction [1-Naphthylisothiocyanate results in increased expression of [ITGB6 protein co-treated with ITGA5 protein]]	21037076
D015058	1-Naphthylisothiocyanate	F3 protein promotes the reaction [1-Naphthylisothiocyanate results in increased expression of [ITGB6 protein co-treated with ITGA5 protein]]	21037076
D015058	1-Naphthylisothiocyanate	[ITGA5 protein co-treated with ITGB6 protein] promotes the reaction [1-Naphthylisothiocyanate results in increased phosphorylation of SMAD2 protein]	21037076
C013186	2,3-pentanedione	2,3-pentanedione results in increased expression of ITGA5 mRNA	25710175
C016403	2,4-dinitrotoluene	2,4-dinitrotoluene affects the expression of ITGA5 mRNA	21346803
C085911	2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one	2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one inhibits the reaction [IGF1 protein results in increased expression of and affects the localization of [ITGA5 protein binds to ITGB3 protein]]	16465378
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of ITGA5 mRNA	21346803
C577942	2-methoxy-N-(3-methyl-2-oxo-1,2,3,4-tetrahydroquinazolin-6-yl)benzenesulfonamide	2-methoxy-N-(3-methyl-2-oxo-1,2,3,4-tetrahydroquinazolin-6-yl)benzenesulfonamide inhibits the reaction [TGFB1 protein results in increased expression of ITGA5 mRNA]	26644586
C577942	2-methoxy-N-(3-methyl-2-oxo-1,2,3,4-tetrahydroquinazolin-6-yl)benzenesulfonamide	2-methoxy-N-(3-methyl-2-oxo-1,2,3,4-tetrahydroquinazolin-6-yl)benzenesulfonamide results in decreased expression of ITGA5 mRNA	26644586
C511621	2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	[Tetrachlorodibenzodioxin co-treated with 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide] results in decreased expression of ITGA5 mRNA	29704546
C426703	3-(3-(3-(4,5-dihydroimidazol-2-ylamino)propyloxylisoxazol-5-yl)carbonylamino)-2-(phenylsulfonylamino)propionic acid	3-(3-(3-(4,5-dihydroimidazol-2-ylamino)propyloxylisoxazol-5-yl)carbonylamino)-2-(phenylsulfonylamino)propionic acid binds to and results in decreased activity of [ITGA5 protein binds to ITGB3 protein]	16384862
C478626	3-(6-methoxypyridin-3-yl)-3-(2-oxo-3-(3-(5,6,7,8-tetrahydro(1,8)naphthyridin-2-yl)propyl)imidazolidin-1-yl)propionic acid	3-(6-methoxypyridin-3-yl)-3-(2-oxo-3-(3-(5,6,7,8-tetrahydro(1,8)naphthyridin-2-yl)propyl)imidazolidin-1-yl)propionic acid binds to [ITGA5 protein binds to ITGB3 protein]	14561098
C478626	3-(6-methoxypyridin-3-yl)-3-(2-oxo-3-(3-(5,6,7,8-tetrahydro(1,8)naphthyridin-2-yl)propyl)imidazolidin-1-yl)propionic acid	3-(6-methoxypyridin-3-yl)-3-(2-oxo-3-(3-(5,6,7,8-tetrahydro(1,8)naphthyridin-2-yl)propyl)imidazolidin-1-yl)propionic acid results in decreased activity of [ITGA5 protein binds to ITGB3 protein]	14561098
C027576	4-hydroxy-2-nonenal	4-hydroxy-2-nonenal results in decreased expression of ITGA5 mRNA	12419474
C012606	4-vinyl-1-cyclohexene dioxide	4-vinyl-1-cyclohexene dioxide affects the expression of ITGA5 mRNA	20829426
C496492	abrine	abrine results in increased expression of ITGA5 mRNA	31054353
D000096	Acetone	Acetone results in increased expression of ITGA5 mRNA	12720008
C549106	AL-10 compound	AL-10 compound results in decreased metabolism of ITGA5 protein	20112294
D000537	Aluminum Oxide	[Aluminum Oxide co-treated with Magnesium] results in increased expression of ITGA5 protein	12209937
D000661	Amphetamine	Amphetamine results in increased expression of ITGA5 mRNA	30779732
D000942	Antigens, Bacterial	[Antigens, Bacterial co-treated with Ovalbumin] results in increased expression of ITGA5 mRNA	29067999
D000942	Antigens, Bacterial	MYD88 gene mutant form affects the reaction [[Antigens, Bacterial co-treated with Ovalbumin] results in increased expression of ITGA5 mRNA]	29067999
C047981	arginyl-glycyl-aspartic acid	arginyl-glycyl-aspartic acid inhibits the reaction [Resveratrol binds to [ITGA5 protein binds to ITGB3 protein]]	16790523
D000068180	Aripiprazole	[Aripiprazole co-treated with Ozone] results in increased expression of ITGA5 mRNA	31476115
D001241	Aspirin	Aspirin results in decreased expression of ITGA5 mRNA	15928584
D001280	Atrazine	Atrazine inhibits the reaction [Tetradecanoylphorbol Acetate results in increased expression of ITGA5 mRNA]	24211529
C547126	AZM551248	AZM551248 results in increased expression of ITGA5 mRNA	22323515
D001397	Azoxymethane	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of ITGA5 mRNA	29950665
D001542	Benomyl	Benomyl results in decreased expression of ITGA5 mRNA	25530041
D001554	Benzene	Benzene results in increased expression of ITGA5 mRNA	19162166
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of ITGA5 mRNA	22228805
C026487	benzo(e)pyrene	benzo(e)pyrene results in increased methylation of ITGA5 intron	30157460
C543008	bis(4-hydroxyphenyl)sulfone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of ITGA5 mRNA	28628672
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of ITGA5 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the expression of ITGA5 mRNA	21786754
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 decreased expression of ITGA5 mRNA	28628672
C006780	bisphenol A	bisphenol A results in decreased expression of ITGA5 mRNA	25594700
C006780	bisphenol A	bisphenol A results in increased methylation of ITGA5 promoter	27312807
C006780	bisphenol A	bisphenol A results in decreased expression of ITGA5 mRNA	30816183
C006780	bisphenol A	bisphenol A results in increased expression of ITGA5 mRNA	25181051
C000611646	bisphenol F	[bisphenol F co-treated with Tretinoin] results in decreased expression of ITGA5 mRNA	30951980
C000611646	bisphenol F	bisphenol F results in increased expression of ITGA5 mRNA	30951980
C025703	bleomycetin	bleomycetin results in increased expression of ITGA5 mRNA	21040473
D001973	Bromodeoxyuridine	Bromodeoxyuridine results in increased expression of ITGA5 mRNA	7519154
D001973	Bromodeoxyuridine	Bromodeoxyuridine results in increased expression of ITGA5 protein	7519154
C584509	C646 compound	C646 compound results in increased expression of ITGA5 mRNA	26191083
D002104	Cadmium	[Cadmium Chloride results in increased abundance of Cadmium] which results in decreased expression of ITGA5 mRNA	29741670
D002104	Cadmium	Cadmium results in decreased expression of ITGA5 mRNA	20570719
D002104	Cadmium	Cadmium results in increased expression of ITGA5 mRNA	20570719
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of ITGA5 mRNA	26472689
D019256	Cadmium Chloride	[Cadmium Chloride results in increased abundance of Cadmium] which results in decreased expression of ITGA5 mRNA	29741670
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of ITGA5 protein	28527916
D002211	Capsaicin	Capsaicin results in increased expression of ITGA5 mRNA	16278290
C006698	carbendazim	carbendazim results in decreased expression of ITGA5 mRNA	25530041
C422910	Cilengitide	Cilengitide results in decreased activity of [ITGA5 protein binds to ITGB3 protein]	16729916
C422910	Cilengitide	Cilengitide results in decreased activity of [ITGA5 protein binds to ITGB5 protein]	16729916
D002945	Cisplatin	Cisplatin affects the expression of ITGA5 mRNA	23300844
D007464	Clioquinol	ITGA5 protein promotes the reaction [[Clioquinol binds to Copper] which results in increased phosphorylation of EGFR protein]	18346929
C018021	cobaltous chloride	cobaltous chloride results in increased expression of ITGA5 protein	16798617
D003300	Copper	ITGA5 protein promotes the reaction [[Clioquinol binds to Copper] which results in increased phosphorylation of EGFR protein]	18346929
D019327	Copper Sulfate	Copper Sulfate results in increased expression of ITGA5 mRNA	21595052
D003634	DDT	DDT results in increased expression of ITGA5 mRNA	22902829
D000077209	Decitabine	Decitabine affects the expression of ITGA5 mRNA	23300844
D000077209	Decitabine	Decitabine results in increased expression of ITGA5 mRNA	27915011
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of ITGA5 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 A] results in decreased expression of ITGA5 mRNA	28628672
D003907	Dexamethasone	Dexamethasone results in increased expression of ITGA5 mRNA	22733784
D016264	Dextran Sulfate	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of ITGA5 mRNA	29950665
C042577	diallyl trisulfide	diallyl trisulfide results in decreased expression of ITGA5 protein	28741790
D003975	Diazepam	Diazepam results in increased expression of ITGA5 mRNA	19114084
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of ITGA5 mRNA	15829613; 21266533;
D004041	Dietary Fats	Dietary Fats results in increased expression of ITGA5 mRNA	25016146
D004221	Disulfiram	Disulfiram results in decreased expression of ITGA5 mRNA	20530235
D004317	Doxorubicin	Doxorubicin results in decreased expression of ITGA5 mRNA	29803840
C529593	EMD 527040	EMD 527040 binds to and results in decreased activity of [ITGA5 protein binds to ITGB6 protein]	18221819
D004726	Endosulfan	Endosulfan results in increased expression of ITGA5 mRNA	22902829
C472787	erucylphospho-N,N,N-trimethylpropylammonium	erucylphospho-N,N,N-trimethylpropylammonium results in increased expression of ITGA5 mRNA	29464035
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in increased expression of ITGA5 mRNA	30165855
D004958	Estradiol	[Progesterone co-treated with Estradiol] results in increased expression of ITGA5 mRNA	20226447
D000431	Ethanol	Ethanol results in increased expression of ITGA5 mRNA	12720008
C540355	fenamidone	fenamidone results in increased expression of ITGA5 mRNA	27029645
D005492	Folic Acid	Folic Acid affects the expression of ITGA5 mRNA	16361273
D005665	Furosemide	Furosemide results in decreased expression of ITGA5 mRNA	16526316
C568713	GSK1210151A	GSK1210151A inhibits the reaction [TGFB1 protein results in increased expression of ITGA5 mRNA]	26644586
C568713	GSK1210151A	GSK1210151A results in decreased expression of ITGA5 mRNA	26644586
D006533	Heptachlor	Heptachlor results in increased expression of ITGA5 mRNA	22902829
D006854	Hydrocortisone	Hydrocortisone results in increased expression of ITGA5 mRNA	21267416
D006861	Hydrogen Peroxide	Hydrogen Peroxide results in decreased expression of ITGA5 mRNA	12419474
C492448	ICG 001	ICG 001 results in increased expression of ITGA5 mRNA	26191083
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of ITGA5 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 A] results in decreased expression of ITGA5 mRNA	28628672
C561695	(+)-JQ1 compound	(+)-JQ1 compound inhibits the reaction [TGFB1 protein results in increased expression of ITGA5 mRNA]	26644586
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of ITGA5 mRNA	26644586
C561695	(+)-JQ1 compound	(+)-JQ1 compound inhibits the reaction [Lipopolysaccharides results in increased expression of ITGA5 mRNA]	25890327
D016729	Leuprolide	Leuprolide inhibits the reaction [IGF1 protein results in increased expression of and affects the localization of [ITGA5 protein binds to ITGB3 protein]]	17143537
C482199	lipopolysaccharide, E coli O55-B5	lipopolysaccharide, E coli O55-B5 results in increased expression of ITGA5 mRNA	24972896
D008070	Lipopolysaccharides	(+)-JQ1 compound inhibits the reaction [Lipopolysaccharides results in increased expression of ITGA5 mRNA]	25890327
D008070	Lipopolysaccharides	Lipopolysaccharides results in increased expression of ITGA5 mRNA	25890327
D008274	Magnesium	[Aluminum Oxide co-treated with Magnesium] results in increased expression of ITGA5 protein	12209937
D008627	Mercuric Chloride	Mercuric Chloride affects the expression of ITGA5 mRNA	20353558
D008701	Methapyrilene	Methapyrilene results in increased methylation of ITGA5 intron	30157460
D008727	Methotrexate	Methotrexate results in increased expression of ITGA5 mRNA	17400583
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of ITGA5 mRNA	26011545
D009151	Mustard Gas	Mustard Gas results in increased expression of ITGA5 mRNA	15674843
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of ITGA5 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of ITGA5 mRNA	25554681
C007350	nitrofen	nitrofen results in increased expression of ITGA5 protein	15119844
D010047	Ovalbumin	[Antigens, Bacterial co-treated with Ovalbumin] results in increased expression of ITGA5 mRNA	29067999
D010047	Ovalbumin	MYD88 gene mutant form affects the reaction [[Antigens, Bacterial co-treated with Ovalbumin] results in increased expression of ITGA5 mRNA]	29067999
D010100	Oxygen	Oxygen deficiency results in increased expression of ITGA5 protein	26476374
D010100	Oxygen	Quercetin inhibits the reaction [Oxygen deficiency results in increased expression of ITGA5 protein]	26476374
D010126	Ozone	[Aripiprazole co-treated with Ozone] results in increased expression of ITGA5 mRNA	31476115
D010126	Ozone	Ozone results in increased expression of ITGA5 mRNA	31476115
C086401	pentabromodiphenyl ether	pentabromodiphenyl ether results in decreased expression of ITGA5 mRNA	23948077
D010416	Pentachlorophenol	Pentachlorophenol results in increased expression of ITGA5 mRNA	27181905
D010426	Pentosan Sulfuric Polyester	Pentosan Sulfuric Polyester results in increased expression of ITGA5 mRNA	28973697
C000622612	peracetylated N-azidoacetylmannosamine	peracetylated N-azidoacetylmannosamine results in decreased expression of ITGA5 mRNA	30181604
D010862	Pilocarpine	Pilocarpine results in increased expression of ITGA5 protein	12851778
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of ITGA5 mRNA	22714537
D011374	Progesterone	[Progesterone co-treated with Estradiol] results in increased expression of ITGA5 mRNA	20226447
D011374	Progesterone	Progesterone results in increased expression of ITGA5 mRNA	20226447; 21795739;
D011374	Progesterone	Progesterone affects the expression of ITGA5 mRNA	17962213
D011374	Progesterone	Progesterone affects the expression of ITGA5 protein	17962213
C513428	pyrachlostrobin	pyrachlostrobin results in increased expression of ITGA5 mRNA	27029645
C014175	pyrazolo(3,4-d)pyrimidine	pyrazolo(3,4-d)pyrimidine analog affects the expression of ITGA5 mRNA	21152443
D011794	Quercetin	Quercetin results in increased expression of ITGA5 mRNA	30152185
D011794	Quercetin	Quercetin inhibits the reaction [Oxygen deficiency results in increased expression of ITGA5 protein]	26476374
C037219	quinoline	quinoline analog binds to and results in decreased activity of [ITGA5 protein binds to ITGB3 protein]	16984141
D000077185	Resveratrol	arginyl-glycyl-aspartic acid inhibits the reaction [Resveratrol binds to [ITGA5 protein binds to ITGB3 protein]]	16790523
D000077185	Resveratrol	[ITGA5 protein binds to ITGB3 protein] promotes the reaction [Resveratrol results in increased phosphorylation of MAPK1 protein]	16790523
D000077185	Resveratrol	[ITGA5 protein binds to ITGB3 protein] promotes the reaction [Resveratrol results in increased phosphorylation of MAPK3 protein]	16790523
D000077185	Resveratrol	[ITGA5 protein binds to ITGB3 protein] promotes the reaction [Resveratrol results in increased phosphorylation of TP53 protein]	16790523
D000077185	Resveratrol	Resveratrol binds to [ITGA5 protein binds to ITGB3 protein]	16790523
D000077185	Resveratrol	Resveratrol results in decreased expression of ITGA5 protein	18089832
D000077154	Rosiglitazone	Rosiglitazone results in increased expression of ITGA5 protein	19467017
D000077154	Rosiglitazone	Tretinoin promotes the reaction [Rosiglitazone results in increased expression of ITGA5 protein]	19467017
D012402	Rotenone	Rotenone results in decreased expression of ITGA5 mRNA	28374803
D012822	Silicon Dioxide	Silicon Dioxide analog results in increased expression of ITGA5 mRNA	25895662
D012822	Silicon Dioxide	Silicon Dioxide results in increased expression of ITGA5 mRNA	19073995
C009277	sodium arsenate	sodium arsenate results in decreased expression of ITGA5 mRNA	21795629
C017947	sodium arsenite	sodium arsenite results in decreased expression of ITGA5 mRNA	29361514
C017947	sodium arsenite	sodium arsenite affects the methylation of ITGA5 gene	28589171
D012969	Sodium Fluoride	Sodium Fluoride results in decreased expression of ITGA5 mRNA	27862939
D018038	Sodium Selenite	Sodium Selenite results in increased expression of ITGA5 mRNA	18175754
D012999	Soman	Soman results in increased expression of ITGA5 mRNA	19281266
D000077210	Sunitinib	Sunitinib results in increased expression of ITGA5 mRNA	31533062
D013629	Tamoxifen	Tamoxifen results in decreased expression of ITGA5 mRNA	25123088
C561921	technetium 99m (HYNIC-3PRGD(2))(tricine)(TPPTS)	technetium 99m (HYNIC-3PRGD(2))(tricine)(TPPTS) binds to [ITGA5 protein binds to ITGB3 protein]	20694579
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in decreased expression of ITGA5 mRNA	12419474
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in increased expression of ITGA5 mRNA	22659508
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide] results in decreased expression of ITGA5 mRNA	29704546
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of ITGA5 mRNA	16051281; 22902829;
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin binds to AHR protein] which results in decreased expression of ITGA5 mRNA	16214954
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of ITGA5 mRNA	28922406
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of ITGA5 mRNA	21215274
D013752	Tetracycline	Tetracycline results in increased expression of ITGA5 mRNA	28882639
D013755	Tetradecanoylphorbol Acetate	Atrazine inhibits the reaction [Tetradecanoylphorbol Acetate results in increased expression of ITGA5 mRNA]	24211529
D013755	Tetradecanoylphorbol Acetate	Tetradecanoylphorbol Acetate results in increased expression of ITGA5 mRNA	24211529
C011126	tetraiodothyroacetic acid	tetraiodothyroacetic acid binds to [ITGA5 protein binds to ITGB3 protein]	16384862
D013893	Thiram	Thiram results in decreased expression of ITGA5 mRNA	20530235
D013974	Thyroxine	Thyroxine binds to [ITGA5 protein binds to ITGB3 protein]	16384862
C009495	titanium dioxide	[Vitallium analog binds to titanium dioxide] which results in increased expression of ITGA5 mRNA	23825117
C009495	titanium dioxide	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of ITGA5 mRNA	29950665
C009495	titanium dioxide	titanium dioxide results in increased expression of ITGA5 mRNA	27760801; 29264374;
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of ITGA5 protein	30291989
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of ITGA5 mRNA	27865774
D019772	Topotecan	ITGA5 protein affects the susceptibility to Topotecan	16217747
D014212	Tretinoin	Tretinoin promotes the reaction [Rosiglitazone results in increased expression of ITGA5 protein]	19467017
D014212	Tretinoin	[bisphenol F co-treated with Tretinoin] results in decreased expression of ITGA5 mRNA	30951980
C011559	tributyltin	tributyltin results in increased expression of ITGA5 mRNA	29505797
D014241	Trichloroethylene	Trichloroethylene results in decreased expression of ITGA5 mRNA	28973375
D014284	Triiodothyronine	Triiodothyronine binds to [ITGA5 protein binds to ITGB3 protein]	16384862
C013320	tris(2-butoxyethyl) phosphate	tris(2-butoxyethyl) phosphate affects the expression of ITGA5 mRNA	29024780
D000077288	Troglitazone	Troglitazone results in increased expression of ITGA5 mRNA	19140230
D014520	Urethane	Urethane results in increased expression of ITGA5 mRNA	28818685
D014635	Valproic Acid	Valproic Acid results in decreased expression of ITGA5 mRNA	29154799
D014635	Valproic Acid	Valproic Acid results in increased expression of ITGA5 mRNA	24896083
D014638	Vanadates	Vanadates results in increased expression of ITGA5 mRNA	22714537
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of ITGA5 gene	25560391
C029297	vinylidene chloride	vinylidene chloride results in increased expression of ITGA5 mRNA	26682919
D014800	Vitallium	[Vitallium analog binds to titanium dioxide] which results in increased expression of ITGA5 mRNA	23825117

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0106	Calcium
KW-0130	Cell adhesion
KW-0965	Cell junction
KW-0165	Cleavage on pair of basic residues
KW-0903	Direct protein sequencing
KW-1015	Disulfide bond
KW-0325	Glycoprotein
KW-1183	Host cell receptor for virus entry
KW-0945	Host-virus interaction
KW-0401	Integrin
KW-0472	Membrane
KW-0479	Metal-binding
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-0675	Receptor
KW-1185	Reference proteome
KW-0677	Repeat
KW-0732	Signal
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR013517	FG-GAP
IPR013519	Int_alpha_beta-p
IPR000413	Integrin_alpha
IPR013649	Integrin_alpha-2
IPR018184	Integrin_alpha_C_CS
IPR028994	Integrin_alpha_N
IPR032695	Integrin_dom_sf

PROSITE

PROSITE ID	PROSITE Term
PS51470	FG_GAP
PS00242	INTEGRIN_ALPHA

Pfam

Pfam ID	Pfam Term
PF01839	FG-GAP
PF08441	Integrin_alpha2

Gene: ITGA5

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