CleftGeneDB-Search

Gene: APAF1

Basic information

Tag	Content
Uniprot ID	O14727; B2RMX8; O43297; Q7Z438; Q9BXZ6; Q9UBZ5; Q9UGN8; Q9UGN9; Q9UGP0; Q9UJ58; Q9UJ59; Q9UJ60; Q9UJ61; Q9UJ62; Q9UJ63; Q9UJ64; Q9UJ65; Q9UJ66; Q9UJ67; Q9UNC9;
Entrez ID	317
Genbank protein ID	CAB55588.1; AAK28401.1; AAI36532.1; BAA24843.2; CAB55587.1; CAB55579.1; CAB55580.1; CAB65087.1; CAB55585.1; AAI36533.1; CAB55581.1; CAB55584.1; CAB55582.1; BAC77343.1; EAW97606.1; CAB65085.1; AAC51678.1; CAB65086.1; CAB55586.1; AAD34016.1; CAB55583.1; AAD38344.1; CAB56462.1;
Genbank nucleotide ID	NM_001160.2; NM_181868.1; NM_181861.1; NM_013229.2; NM_181869.1;
Ensembl protein ID	ENSP00000334558; ENSP00000448449; ENSP00000449791; ENSP00000448165; ENSP00000353059; ENSP00000349862; ENSP00000448826;
Ensembl nucleotide ID	ENSG00000120868
Gene name	Apoptotic protease-activating factor 1
Gene symbol	APAF1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Oligomeric Apaf-1 mediates the cytochrome c-dependent autocatalytic activation of pro-caspase-9 (Apaf-3), leading to the activation of caspase-3 and apoptosis. This activation requires ATP. Isoform 6 is less effective in inducing apoptosis.
Sequence	MDAKARNCLL QHREALEKDI KTSYIMDHMI SDGFLTISEE EKVRNEPTQQ QRAAMLIKMI 60 LKKDNDSYVS FYNALLHEGY KDLAALLHDG IPVVSSSSGK DSVSGITSYV RTVLCEGGVP 120 QRPVVFVTRK KLVNAIQQKL SKLKGEPGWV TIHGMAGCGK SVLAAEAVRD HSLLEGCFPG 180 GVHWVSVGKQ DKSGLLMKLQ NLCTRLDQDE SFSQRLPLNI EEAKDRLRIL MLRKHPRSLL 240 ILDDVWDSWV LKAFDSQCQI LLTTRDKSVT DSVMGPKYVV PVESSLGKEK GLEILSLFVN 300 MKKADLPEQA HSIIKECKGS PLVVSLIGAL LRDFPNRWEY YLKQLQNKQF KRIRKSSSYD 360 YEALDEAMSI SVEMLREDIK DYYTDLSILQ KDVKVPTKVL CILWDMETEE VEDILQEFVN 420 KSLLFCDRNG KSFRYYLHDL QVDFLTEKNC SQLQDLHKKI ITQFQRYHQP HTLSPDQEDC 480 MYWYNFLAYH MASAKMHKEL CALMFSLDWI KAKTELVGPA HLIHEFVEYR HILDEKDCAV 540 SENFQEFLSL NGHLLGRQPF PNIVQLGLCE PETSEVYQQA KLQAKQEVDN GMLYLEWINK 600 KNITNLSRLV VRPHTDAVYH ACFSEDGQRI ASCGADKTLQ VFKAETGEKL LEIKAHEDEV 660 LCCAFSTDDR FIATCSVDKK VKIWNSMTGE LVHTYDEHSE QVNCCHFTNS SHHLLLATGS 720 SDCFLKLWDL NQKECRNTMF GHTNSVNHCR FSPDDKLLAS CSADGTLKLW DATSANERKS 780 INVKQFFLNL EDPQEDMEVI VKCCSWSADG ARIMVAAKNK IFLFDIHTSG LLGEIHTGHH 840 STIQYCDFSP QNHLAVVALS QYCVELWNTD SRSKVADCRG HLSWVHGVMF SPDGSSFLTS 900 SDDQTIRLWE TKKVCKNSAV MLKQEVDVVF QENEVMVLAV DHIRRLQLIN GRTGQIDYLT 960 EAQVSCCCLS PHLQYIAFGD ENGAIEILEL VNNRIFQSRF QHKKTVWHIQ FTADEKTLIS 1020 SSDDAEIQVW NWQLDKCIFL RGHQETVKDF RLLKNSRLLS WSFDGTVKVW NIITGNKEKD 1080 FVCHQGTVLS CDISHDATKF SSTSADKTAK IWSFDLLLPL HELRGHNGCV RCSAFSVDST 1140 LLATGDDNGE IRIWNVSNGE LLHLCAPLSE EGAATHGGWV TDLCFSPDGK MLISAGGYIK 1200 WWNVVTGESS QTFYTNGTNL KKIHVSPDFK TYVTVDNLGI LYILQTLE 1248

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
1C15
1CWW
1CY5
1Z6T
2P1H
2YGS
3J2T
3JBT
3YGS
4RHW
5JUY
5WVC
5WVE
1CY5

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	APAF1		A0A452G611		Capra hircus	Prediction	More>>
1:1 ortholog	APAF1	317	O14727		Homo sapiens	Prediction	More>>
1:1 ortholog	Apaf1	11783	O88879	CPO	Mus musculus	Publication	More>>
1:1 ortholog	APAF1		A0A2I3T3Q9		Pan troglodytes	Prediction	More>>
1:1 ortholog	Apaf1	78963	Q9EPV5		Rattus norvegicus	Prediction	More>>
1:1 ortholog	apaf1	58131	A5WVJ8		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
NCI-TCGA novel	p.Asp2Gly	missense variant	-	NC_000012.12:g.98648364A>G	NCI-TCGA
rs1300153351	p.Asp2Asn	missense variant	-	NC_000012.12:g.98648363G>A	TOPMed
rs1216860579	p.Ala3Thr	missense variant	-	NC_000012.12:g.98648366G>A	gnomAD
COSM3813291	p.Arg6Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98648376G>A	NCI-TCGA Cosmic
rs776606994	p.Arg6Gly	missense variant	-	NC_000012.12:g.98648375C>G	ExAC,gnomAD
rs765077795	p.Cys8Tyr	missense variant	-	NC_000012.12:g.98648382G>A	ExAC,gnomAD
rs761730145	p.Cys8Arg	missense variant	-	NC_000012.12:g.98648381T>C	ExAC,gnomAD
rs765077795	p.Cys8Phe	missense variant	-	NC_000012.12:g.98648382G>T	ExAC,gnomAD
rs373035647	p.Arg13Lys	missense variant	-	NC_000012.12:g.98648397G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs966090697	p.Arg13Gly	missense variant	-	NC_000012.12:g.98648396A>G	gnomAD
rs1250804010	p.Glu14Gly	missense variant	-	NC_000012.12:g.98648400A>G	gnomAD
rs368174559	p.Ile20Val	missense variant	-	NC_000012.12:g.98648417A>G	ESP,ExAC,TOPMed,gnomAD
rs1363526414	p.Ile20Met	missense variant	-	NC_000012.12:g.98648419C>G	gnomAD
rs751071524	p.Ser23Pro	missense variant	-	NC_000012.12:g.98648426T>C	ExAC,gnomAD
rs1016681790	p.Ser23Cys	missense variant	-	NC_000012.12:g.98648427C>G	TOPMed
rs1254715652	p.Tyr24His	missense variant	-	NC_000012.12:g.98648429T>C	gnomAD
rs150457288	p.Tyr24Cys	missense variant	-	NC_000012.12:g.98648430A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs753165073	p.Met26Val	missense variant	-	NC_000012.12:g.98648435A>G	ExAC,TOPMed,gnomAD
rs1323939935	p.Ile30Thr	missense variant	-	NC_000012.12:g.98648448T>C	gnomAD
rs756482718	p.Ser31Asn	missense variant	-	NC_000012.12:g.98648451G>A	ExAC,TOPMed,gnomAD
rs756482718	p.Ser31Thr	missense variant	-	NC_000012.12:g.98648451G>C	ExAC,TOPMed,gnomAD
rs778908657	p.Gly33Ala	missense variant	-	NC_000012.12:g.98648457G>C	ExAC,TOPMed,gnomAD
rs771167842	p.Gly33Arg	missense variant	-	NC_000012.12:g.98648456G>A	ExAC,gnomAD
rs778908657	p.Gly33Glu	missense variant	-	NC_000012.12:g.98648457G>A	ExAC,TOPMed,gnomAD
RCV000709688	p.Leu35Ter	frameshift	Neural tube defect (NTD)	NC_000012.12:g.98648463dup	ClinVar
rs1269887018	p.Thr36Ala	missense variant	-	NC_000012.12:g.98648465A>G	gnomAD
rs372259373	p.Ile37Val	missense variant	-	NC_000012.12:g.98648468A>G	ESP,ExAC,TOPMed,gnomAD
rs1270717462	p.Ser38Thr	missense variant	-	NC_000012.12:g.98648471T>A	gnomAD
rs776731061	p.Glu39Ala	missense variant	-	NC_000012.12:g.98648475A>C	ExAC,gnomAD
rs1268751626	p.Glu41Lys	missense variant	-	NC_000012.12:g.98648480G>A	TOPMed
rs1209995584	p.Lys42Asn	missense variant	-	NC_000012.12:g.98648485A>C	gnomAD
rs1417655916	p.Arg44Thr	missense variant	-	NC_000012.12:g.98648490G>C	gnomAD
rs145226502	p.Asn45Ser	missense variant	-	NC_000012.12:g.98648493A>G	1000Genomes,ExAC,TOPMed
rs199944569	p.Glu46Lys	missense variant	-	NC_000012.12:g.98648495G>A	1000Genomes,ExAC
rs1239771247	p.Pro47Ser	missense variant	-	NC_000012.12:g.98648626C>T	gnomAD
COSM6138715	p.Gln50Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98648636A>T	NCI-TCGA Cosmic
rs770595178	p.Gln51Arg	missense variant	-	NC_000012.12:g.98648639A>G	ExAC,TOPMed,gnomAD
rs1186070944	p.Ala54Val	missense variant	-	NC_000012.12:g.98648648C>T	gnomAD
rs1259676865	p.Met55Ile	missense variant	-	NC_000012.12:g.98648652G>A	TOPMed,gnomAD
rs915308331	p.Lys58Glu	missense variant	-	NC_000012.12:g.98648659A>G	TOPMed,gnomAD
COSM944885	p.Met59Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98648663T>C	NCI-TCGA Cosmic
rs889297282	p.Met59Val	missense variant	-	NC_000012.12:g.98648662A>G	TOPMed,gnomAD
rs774078486	p.Ile60Thr	missense variant	-	NC_000012.12:g.98648666T>C	ExAC,TOPMed,gnomAD
rs200621810	p.Ile60Met	missense variant	-	NC_000012.12:g.98648667A>G	ExAC,TOPMed,gnomAD
rs1448656182	p.Lys63Asn	missense variant	-	NC_000012.12:g.98648676A>T	gnomAD
rs966408324	p.Asn65Ile	missense variant	-	NC_000012.12:g.98648681A>T	gnomAD
rs966408324	p.Asn65Ser	missense variant	-	NC_000012.12:g.98648681A>G	gnomAD
rs767077671	p.Ser67Tyr	missense variant	-	NC_000012.12:g.98648687C>A	ExAC,gnomAD
rs1297807608	p.Tyr68Ser	missense variant	-	NC_000012.12:g.98648690A>C	gnomAD
rs1297807608	p.Tyr68Cys	missense variant	-	NC_000012.12:g.98648690A>G	gnomAD
rs745962333	p.Val69Leu	missense variant	-	NC_000012.12:g.98648692G>T	gnomAD
rs745962333	p.Val69Ile	missense variant	-	NC_000012.12:g.98648692G>A	gnomAD
rs373040331	p.Tyr72Ter	stop gained	-	NC_000012.12:g.98648703C>A	ESP,ExAC,gnomAD
rs757661181	p.Asn73His	missense variant	-	NC_000012.12:g.98648704A>C	ExAC,gnomAD
rs1225484862	p.Asn73Ser	missense variant	-	NC_000012.12:g.98648705A>G	TOPMed,gnomAD
rs1466271656	p.Leu75Val	missense variant	-	NC_000012.12:g.98648710C>G	gnomAD
rs376597105	p.Leu76Pro	missense variant	-	NC_000012.12:g.98648714T>C	ESP,ExAC,TOPMed,gnomAD
rs1189314792	p.His77Asn	missense variant	-	NC_000012.12:g.98648716C>A	gnomAD
rs561566651	p.His77Arg	missense variant	-	NC_000012.12:g.98648717A>G	1000Genomes,ExAC,gnomAD
rs1414974149	p.Gly79Val	missense variant	-	NC_000012.12:g.98648723G>T	gnomAD
rs756164693	p.Lys81Glu	missense variant	-	NC_000012.12:g.98648728A>G	ExAC,gnomAD
rs1320603249	p.Asp82Glu	missense variant	-	NC_000012.12:g.98648733T>A	gnomAD
rs777800292	p.Asp82Tyr	missense variant	-	NC_000012.12:g.98648731G>T	ExAC,gnomAD
COSM432038	p.Leu83Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98648734C>T	NCI-TCGA Cosmic
rs749134752	p.Ala84Ser	missense variant	-	NC_000012.12:g.98648737G>T	ExAC,TOPMed,gnomAD
rs925746508	p.His88Asp	missense variant	-	NC_000012.12:g.98648749C>G	TOPMed
rs1433835580	p.Asp89Val	missense variant	-	NC_000012.12:g.98648753A>T	gnomAD
rs1276979489	p.Gly90Asp	missense variant	-	NC_000012.12:g.98648756G>A	gnomAD
rs139951279	p.Ile91Leu	missense variant	-	NC_000012.12:g.98648758A>C	ESP,ExAC,gnomAD
rs139951279	p.Ile91Phe	missense variant	-	NC_000012.12:g.98648758A>T	ESP,ExAC,gnomAD
rs139951279	p.Ile91Val	missense variant	-	NC_000012.12:g.98648758A>G	ESP,ExAC,gnomAD
rs141352935	p.Pro92Ser	missense variant	-	NC_000012.12:g.98648761C>T	ESP,ExAC,TOPMed,gnomAD
rs150823984	p.Ser96Phe	missense variant	-	NC_000012.12:g.98648774C>T	ESP,ExAC,TOPMed,gnomAD
rs941494231	p.Ser98Gly	missense variant	-	NC_000012.12:g.98648779A>G	TOPMed
rs1249831203	p.Lys100Arg	missense variant	-	NC_000012.12:g.98648786A>G	TOPMed
rs1272614161	p.Asp101Asn	missense variant	-	NC_000012.12:g.98648788G>A	gnomAD
NCI-TCGA novel	p.Asp101Tyr	missense variant	-	NC_000012.12:g.98648788G>T	NCI-TCGA
COSM4045591	p.Ser102Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98648791T>G	NCI-TCGA Cosmic
rs1189918216	p.Gly105Ala	missense variant	-	NC_000012.12:g.98648801G>C	TOPMed
rs917012585	p.Thr107Ala	missense variant	-	NC_000012.12:g.98648806A>G	TOPMed,gnomAD
rs768104025	p.Ser108Leu	missense variant	-	NC_000012.12:g.98648810C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr109Ter	frameshift	-	NC_000012.12:g.98648814T>-	NCI-TCGA
rs993896526	p.Tyr109Cys	missense variant	-	NC_000012.12:g.98648813A>G	TOPMed,gnomAD
rs1166292661	p.Thr112Ala	missense variant	-	NC_000012.12:g.98649492A>G	TOPMed,gnomAD
rs1381680519	p.Val113Ala	missense variant	-	NC_000012.12:g.98649496T>C	TOPMed
rs780803533	p.Cys115Phe	missense variant	-	NC_000012.12:g.98649502G>T	ExAC,gnomAD
rs1416640980	p.Gln121Ter	stop gained	-	NC_000012.12:g.98649519C>T	gnomAD
rs150005477	p.Arg122Lys	missense variant	-	NC_000012.12:g.98649523G>A	ESP,ExAC,TOPMed,gnomAD
rs1334942986	p.Val124Ala	missense variant	-	NC_000012.12:g.98649529T>C	TOPMed,gnomAD
rs769311146	p.Thr128Ser	missense variant	-	NC_000012.12:g.98649540A>T	ExAC,gnomAD
rs147700706	p.Thr128Ile	missense variant	-	NC_000012.12:g.98649541C>T	ESP,ExAC,TOPMed,gnomAD
rs749757628	p.Arg129Gly	missense variant	-	NC_000012.12:g.98649543A>G	ExAC
rs1366166319	p.Val133Glu	missense variant	-	NC_000012.12:g.98649556T>A	gnomAD
rs771430171	p.Ala135Thr	missense variant	-	NC_000012.12:g.98649561G>A	ExAC,gnomAD
rs774840943	p.Ala135Val	missense variant	-	NC_000012.12:g.98649562C>T	ExAC,gnomAD
rs759884217	p.Gln137Ter	stop gained	-	NC_000012.12:g.98649567C>T	ExAC,gnomAD
rs1387312393	p.Gln138Ter	stop gained	-	NC_000012.12:g.98649570C>T	TOPMed
rs767600058	p.Lys142Arg	missense variant	-	NC_000012.12:g.98649583A>G	ExAC,gnomAD
rs200533513	p.Lys144Thr	missense variant	-	NC_000012.12:g.98649589A>C	ESP,ExAC,TOPMed,gnomAD
rs985473565	p.Gly145Val	missense variant	-	NC_000012.12:g.98649592G>T	TOPMed
COSM69683	p.Glu146Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98649595A>T	NCI-TCGA Cosmic
rs760691992	p.Pro147Thr	missense variant	-	NC_000012.12:g.98649597C>A	ExAC,gnomAD
rs1449689942	p.Ile152Thr	missense variant	-	NC_000012.12:g.98649613T>C	gnomAD
rs377171914	p.His153Arg	missense variant	-	NC_000012.12:g.98649616A>G	ESP,ExAC,gnomAD
rs1376222776	p.Gly154Arg	missense variant	-	NC_000012.12:g.98649618G>A	gnomAD
rs1173629827	p.Cys158Tyr	missense variant	-	NC_000012.12:g.98649631G>A	gnomAD
rs766220748	p.Val162Ile	missense variant	-	NC_000012.12:g.98649642G>A	ExAC,TOPMed,gnomAD
rs766220748	p.Val162Leu	missense variant	-	NC_000012.12:g.98649642G>C	ExAC,TOPMed,gnomAD
rs1211159304	p.Glu166Lys	missense variant	-	NC_000012.12:g.98649654G>A	TOPMed
rs754700839	p.Glu166Gly	missense variant	-	NC_000012.12:g.98649655A>G	ExAC,TOPMed,gnomAD
rs113035658	p.Ala167Thr	missense variant	-	NC_000012.12:g.98649657G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs144787055	p.Asp170Glu	missense variant	-	NC_000012.12:g.98649668T>G	ESP,TOPMed,gnomAD
COSM944886	p.Asp170Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98649666G>T	NCI-TCGA Cosmic
COSM1128437	p.His171Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98649669C>T	NCI-TCGA Cosmic
COSM3813293	p.Ser172Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98649673C>G	NCI-TCGA Cosmic
rs147932236	p.Ser172Phe	missense variant	-	NC_000012.12:g.98649673C>T	ESP,ExAC,TOPMed,gnomAD
rs1235361025	p.Leu173Phe	missense variant	-	NC_000012.12:g.98649675C>T	TOPMed,gnomAD
rs755789982	p.Gly180Arg	missense variant	-	NC_000012.12:g.98659171G>C	ExAC,gnomAD
rs865933949	p.Gly181Glu	missense variant	-	NC_000012.12:g.98659175G>A	TOPMed
rs1388767708	p.Gly181Arg	missense variant	-	NC_000012.12:g.98659174G>A	TOPMed
rs200830441	p.His183Arg	missense variant	-	NC_000012.12:g.98659181A>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp184Arg	missense variant	-	NC_000012.12:g.98659183T>C	NCI-TCGA
rs746326392	p.Val187Ala	missense variant	-	NC_000012.12:g.98659193T>C	ExAC,gnomAD
rs370928764	p.Val187Phe	missense variant	-	NC_000012.12:g.98659192G>T	ESP,ExAC,gnomAD
rs370928764	p.Val187Leu	missense variant	-	NC_000012.12:g.98659192G>C	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Lys189AsnPheSerTerUnk	frameshift	-	NC_000012.12:g.98659195G>-	NCI-TCGA
rs1370484839	p.Lys192Ile	missense variant	-	NC_000012.12:g.98659208A>T	gnomAD
COSM944887	p.Lys192Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98659207A>G	NCI-TCGA Cosmic
rs1370484839	p.Lys192Thr	missense variant	-	NC_000012.12:g.98659208A>C	gnomAD
rs1370484839	p.Lys192Arg	missense variant	-	NC_000012.12:g.98659208A>G	gnomAD
rs1370484839	p.Lys192Thr	missense variant	-	NC_000012.12:g.98659208A>C	NCI-TCGA Cosmic
rs1477170972	p.Gly194Val	missense variant	-	NC_000012.12:g.98659214G>T	NCI-TCGA
rs1477170972	p.Gly194Val	missense variant	-	NC_000012.12:g.98659214G>T	TOPMed
rs768844558	p.Met197Thr	missense variant	-	NC_000012.12:g.98659223T>C	ExAC,gnomAD
COSM4662308	p.Gln200His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98659233G>T	NCI-TCGA Cosmic
rs374500915	p.Asn201Asp	missense variant	-	NC_000012.12:g.98659234A>G	ESP,ExAC,TOPMed,gnomAD
rs1366413214	p.Asn201Lys	missense variant	-	NC_000012.12:g.98659236T>A	gnomAD
rs1426727139	p.Leu202Val	missense variant	-	NC_000012.12:g.98659237C>G	gnomAD
rs1292010768	p.Thr204Ile	missense variant	-	NC_000012.12:g.98659244C>T	gnomAD
rs1309940307	p.Arg205Gln	missense variant	-	NC_000012.12:g.98659247G>A	gnomAD
rs769817820	p.Arg205Trp	missense variant	-	NC_000012.12:g.98659246C>T	ExAC,TOPMed,gnomAD
rs1309940307	p.Arg205Gln	missense variant	-	NC_000012.12:g.98659247G>A	NCI-TCGA Cosmic
rs759455114	p.Gln208Pro	missense variant	-	NC_000012.12:g.98659256A>C	ExAC,TOPMed,gnomAD
rs759455114	p.Gln208Arg	missense variant	-	NC_000012.12:g.98659256A>G	ExAC,TOPMed,gnomAD
COSM3466778	p.Gln208Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.98659255C>T	NCI-TCGA Cosmic
rs1274413198	p.Asp209Val	missense variant	-	NC_000012.12:g.98659259A>T	gnomAD
rs767285611	p.Ser211Cys	missense variant	-	NC_000012.12:g.98659264A>T	ExAC,gnomAD
NCI-TCGA novel	p.Phe212Leu	missense variant	-	NC_000012.12:g.98659267T>C	NCI-TCGA
rs1199843033	p.Ser213Cys	missense variant	-	NC_000012.12:g.98659271C>G	TOPMed
rs1207717759	p.Arg215Ser	missense variant	-	NC_000012.12:g.98659278G>C	gnomAD
rs752512193	p.Leu216Pro	missense variant	-	NC_000012.12:g.98659280T>C	ExAC,gnomAD
rs753489861	p.Leu218Val	missense variant	-	NC_000012.12:g.98659285C>G	ExAC,TOPMed,gnomAD
rs1309746107	p.Ile220Val	missense variant	-	NC_000012.12:g.98659291A>G	TOPMed,gnomAD
rs1188121391	p.Ala223Ser	missense variant	-	NC_000012.12:g.98659300G>T	TOPMed,gnomAD
rs778498609	p.Ala223Asp	missense variant	-	NC_000012.12:g.98659301C>A	ExAC,gnomAD
rs778498609	p.Ala223Gly	missense variant	-	NC_000012.12:g.98659301C>G	ExAC,gnomAD
rs1427636277	p.Lys224Glu	missense variant	-	NC_000012.12:g.98659303A>G	gnomAD
rs758924156	p.Asp225Tyr	missense variant	-	NC_000012.12:g.98659306G>T	ExAC,gnomAD
rs1465434660	p.Arg226Cys	missense variant	-	NC_000012.12:g.98659309C>T	TOPMed,gnomAD
rs780332778	p.Arg226His	missense variant	-	NC_000012.12:g.98659310G>A	ExAC,gnomAD
rs1465434660	p.Arg226Cys	missense variant	-	NC_000012.12:g.98659309C>T	NCI-TCGA Cosmic
rs1452948462	p.Arg228His	missense variant	-	NC_000012.12:g.98659316G>A	gnomAD
rs747369160	p.Arg228Cys	missense variant	-	NC_000012.12:g.98659315C>T	ExAC,TOPMed,gnomAD
rs1452948462	p.Arg228His	missense variant	-	NC_000012.12:g.98659316G>A	NCI-TCGA
rs747369160	p.Arg228Cys	missense variant	-	NC_000012.12:g.98659315C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1296482581	p.Ile229Val	missense variant	-	NC_000012.12:g.98659318A>G	gnomAD
rs768971192	p.Arg233Cys	missense variant	-	NC_000012.12:g.98659330C>T	ExAC,TOPMed,gnomAD
rs141157255	p.Arg233His	missense variant	-	NC_000012.12:g.98659331G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs768971192	p.Arg233Cys	missense variant	-	NC_000012.12:g.98659330C>T	NCI-TCGA
rs748315424	p.Lys234Arg	missense variant	-	NC_000012.12:g.98659334A>G	ExAC,TOPMed,gnomAD
rs951830657	p.Lys234Asn	missense variant	-	NC_000012.12:g.98659335A>C	TOPMed
rs368744142	p.His235Tyr	missense variant	-	NC_000012.12:g.98659336C>T	ESP,ExAC,TOPMed,gnomAD
rs756319379	p.Arg237Ser	missense variant	-	NC_000012.12:g.98662456G>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser238Phe	missense variant	-	NC_000012.12:g.98662458C>T	NCI-TCGA
rs537644742	p.Leu239Val	missense variant	-	NC_000012.12:g.98662460C>G	1000Genomes,TOPMed,gnomAD
rs1248641437	p.Leu242Ser	missense variant	-	NC_000012.12:g.98662470T>C	TOPMed
COSM4894202	p.Asp244His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98662475G>C	NCI-TCGA Cosmic
rs1318514424	p.Val245Leu	missense variant	-	NC_000012.12:g.98662478G>C	gnomAD
rs770864896	p.Ser248Phe	missense variant	-	NC_000012.12:g.98662488C>T	ExAC,gnomAD
rs770864896	p.Ser248Cys	missense variant	-	NC_000012.12:g.98662488C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser248Thr	missense variant	-	NC_000012.12:g.98662487T>A	NCI-TCGA
rs775507125	p.Trp249Ser	missense variant	-	NC_000012.12:g.98662491G>C	ExAC,gnomAD
rs1162889828	p.Ala253Val	missense variant	-	NC_000012.12:g.98662503C>T	TOPMed,gnomAD
rs768637465	p.Cys258Tyr	missense variant	-	NC_000012.12:g.98662518G>A	ExAC,gnomAD
rs746875464	p.Cys258Ser	missense variant	-	NC_000012.12:g.98662517T>A	ExAC,TOPMed,gnomAD
rs1224389708	p.Ile260Val	missense variant	-	NC_000012.12:g.98662523A>G	gnomAD
rs145270473	p.Leu261Val	missense variant	-	NC_000012.12:g.98662526C>G	ESP,ExAC,TOPMed,gnomAD
rs145270473	p.Leu261Phe	missense variant	-	NC_000012.12:g.98662526C>T	ESP,ExAC,TOPMed,gnomAD
rs950176672	p.Thr263Lys	missense variant	-	NC_000012.12:g.98662533C>A	TOPMed
rs1320141890	p.Thr264Ile	missense variant	-	NC_000012.12:g.98662536C>T	gnomAD
rs1299014329	p.Arg265Ter	stop gained	-	NC_000012.12:g.98662538A>T	TOPMed
COSM278895	p.Asp266Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98662541G>T	NCI-TCGA Cosmic
rs1434407100	p.Lys267Arg	missense variant	-	NC_000012.12:g.98662545A>G	TOPMed
rs199783677	p.Val269Ile	missense variant	-	NC_000012.12:g.98662550G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ser272Leu	missense variant	-	NC_000012.12:g.98662560C>T	NCI-TCGA
rs1270700267	p.Met274Thr	missense variant	-	NC_000012.12:g.98662566T>C	gnomAD
rs1385450553	p.Pro276Leu	missense variant	-	NC_000012.12:g.98662678C>T	TOPMed,gnomAD
rs1429561405	p.Lys277Asn	missense variant	-	NC_000012.12:g.98662682A>T	TOPMed,gnomAD
rs898651129	p.Tyr278Phe	missense variant	-	NC_000012.12:g.98662684A>T	TOPMed,gnomAD
NCI-TCGA novel	p.Glu283Asp	missense variant	-	NC_000012.12:g.98662700G>T	NCI-TCGA
rs1410958872	p.Ser284Thr	missense variant	-	NC_000012.12:g.98662702G>C	gnomAD
rs1228272710	p.Leu286Ser	missense variant	-	NC_000012.12:g.98662708T>C	TOPMed
rs144728788	p.Gly287Arg	missense variant	-	NC_000012.12:g.98662710G>C	ESP,TOPMed
rs138616141	p.Lys288Asn	missense variant	-	NC_000012.12:g.98662715G>C	ESP,ExAC,TOPMed,gnomAD
rs760089515	p.Lys288Arg	missense variant	-	NC_000012.12:g.98662714A>G	ExAC,gnomAD
rs1316056871	p.Lys290Asn	missense variant	-	NC_000012.12:g.98662721A>C	gnomAD
NCI-TCGA novel	p.Lys290Arg	missense variant	-	NC_000012.12:g.98662720A>G	NCI-TCGA
rs753148886	p.Gly291Glu	missense variant	-	NC_000012.12:g.98662723G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly291ArgPheSerTerUnk	frameshift	-	NC_000012.12:g.98662716_98662717insA	NCI-TCGA
rs1227479916	p.Leu292Phe	missense variant	-	NC_000012.12:g.98662725C>T	gnomAD
rs1046826037	p.Glu293Gln	missense variant	-	NC_000012.12:g.98662728G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Glu293Lys	missense variant	-	NC_000012.12:g.98662728G>A	NCI-TCGA
rs1228957932	p.Ile294Met	missense variant	-	NC_000012.12:g.98662733T>G	gnomAD
rs1321851268	p.Leu295Val	missense variant	-	NC_000012.12:g.98662734T>G	TOPMed
rs1392873920	p.Leu295Phe	missense variant	-	NC_000012.12:g.98662736A>T	TOPMed
rs201562861	p.Asn300His	missense variant	-	NC_000012.12:g.98662749A>C	ESP,ExAC,TOPMed,gnomAD
rs769974597	p.Met301Lys	missense variant	-	NC_000012.12:g.98662753T>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Met301Ile	missense variant	-	NC_000012.12:g.98662754G>T	NCI-TCGA
rs1440244009	p.Lys303Glu	missense variant	-	NC_000012.12:g.98662758A>G	gnomAD
rs149321598	p.Ala304Thr	missense variant	-	NC_000012.12:g.98662761G>A	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Ala304GlnPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.98662760G>-	NCI-TCGA
rs189237320	p.Ala304Val	missense variant	-	NC_000012.12:g.98662762C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1375077279	p.Leu306Ser	missense variant	-	NC_000012.12:g.98662768T>C	gnomAD
rs1476046923	p.Glu308Asp	missense variant	-	NC_000012.12:g.98662775A>T	gnomAD
rs750499402	p.Gln309Leu	missense variant	-	NC_000012.12:g.98662777A>T	ExAC,TOPMed,gnomAD
rs192898520	p.Ile313Val	missense variant	-	NC_000012.12:g.98662788A>G	1000Genomes,ExAC,TOPMed,gnomAD
COSM696225	p.Lys315Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98662796A>T	NCI-TCGA Cosmic
rs369909924	p.Glu316Val	missense variant	-	NC_000012.12:g.98662798A>T	gnomAD
COSM3738620	p.Glu316Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.98662797G>T	NCI-TCGA Cosmic
rs1483201943	p.Glu316Gln	missense variant	-	NC_000012.12:g.98662797G>C	TOPMed
rs769637846	p.Lys318Asn	missense variant	-	NC_000012.12:g.98662805A>T	ExAC,gnomAD
rs777675629	p.Gly319Asp	missense variant	-	NC_000012.12:g.98665553G>A	ExAC,gnomAD
rs777675629	p.Gly319Ala	missense variant	-	NC_000012.12:g.98665553G>C	ExAC,gnomAD
rs1209681193	p.Ser320Phe	missense variant	-	NC_000012.12:g.98665556C>T	gnomAD
rs749009060	p.Pro321His	missense variant	-	NC_000012.12:g.98665559C>A	ExAC,gnomAD
rs778546488	p.Val324Ile	missense variant	-	NC_000012.12:g.98665567G>A	ExAC,TOPMed,gnomAD
rs771635032	p.Ile327Val	missense variant	-	NC_000012.12:g.98665576A>G	ExAC,gnomAD
rs995869705	p.Ala329Thr	missense variant	-	NC_000012.12:g.98665582G>A	TOPMed
rs769012939	p.Arg332His	missense variant	-	NC_000012.12:g.98665592G>A	ExAC,TOPMed,gnomAD
rs769012939	p.Arg332Leu	missense variant	-	NC_000012.12:g.98665592G>T	ExAC,TOPMed,gnomAD
rs1162432784	p.Arg332Cys	missense variant	-	NC_000012.12:g.98665591C>T	gnomAD
rs765641337	p.Asn336Ser	missense variant	-	NC_000012.12:g.98665604A>G	ExAC,TOPMed,gnomAD
rs1006261171	p.Arg337His	missense variant	-	NC_000012.12:g.98665607G>A	TOPMed
rs773574010	p.Arg337Cys	missense variant	-	NC_000012.12:g.98665606C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg337Ser	missense variant	-	NC_000012.12:g.98665606C>A	NCI-TCGA
rs1407535320	p.Glu339Ala	missense variant	-	NC_000012.12:g.98665613A>C	TOPMed,gnomAD
rs1308504401	p.Tyr340His	missense variant	-	NC_000012.12:g.98665615T>C	gnomAD
rs763265874	p.Asn347Asp	missense variant	-	NC_000012.12:g.98665636A>G	ExAC,TOPMed,gnomAD
rs766627138	p.Gln349His	missense variant	-	NC_000012.12:g.98665644G>C	ExAC,gnomAD
rs1223644343	p.Phe350Leu	missense variant	-	NC_000012.12:g.98665647T>A	gnomAD
COSM944891	p.Arg352Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98665652G>T	NCI-TCGA Cosmic
rs756120322	p.Ile353Val	missense variant	-	NC_000012.12:g.98665654A>G	ExAC,gnomAD
rs763974517	p.Lys355Thr	missense variant	-	NC_000012.12:g.98665661A>C	ExAC,TOPMed,gnomAD
rs1227317636	p.Ser356Phe	missense variant	-	NC_000012.12:g.98665664C>T	TOPMed
rs753747121	p.Ser357Leu	missense variant	-	NC_000012.12:g.98665667C>T	ExAC,gnomAD
rs758021604	p.Asp360Gly	missense variant	-	NC_000012.12:g.98665676A>G	ExAC,gnomAD
rs758021604	p.Asp360Val	missense variant	-	NC_000012.12:g.98665676A>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp360Asn	missense variant	-	NC_000012.12:g.98665675G>A	NCI-TCGA
rs980221719	p.Tyr361Ter	stop gained	-	NC_000012.12:g.98665680T>G	TOPMed
rs779653660	p.Tyr361Asn	missense variant	-	NC_000012.12:g.98665678T>A	ExAC,gnomAD
rs1369939464	p.Leu364Val	missense variant	-	NC_000012.12:g.98665687C>G	gnomAD
rs201932795	p.Asp365Glu	missense variant	-	NC_000012.12:g.98665692T>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu366Lys	missense variant	-	NC_000012.12:g.98665693G>A	NCI-TCGA
NCI-TCGA novel	p.Ser369Phe	missense variant	-	NC_000012.12:g.98665703C>T	NCI-TCGA
rs768162508	p.Ile370Val	missense variant	-	NC_000012.12:g.98665705A>G	ExAC,TOPMed,gnomAD
rs1264896516	p.Ser371Cys	missense variant	-	NC_000012.12:g.98665708A>T	gnomAD
rs748600489	p.Met374Thr	missense variant	-	NC_000012.12:g.98665718T>C	ExAC,gnomAD
rs141824871	p.Arg376Gly	missense variant	-	NC_000012.12:g.98665723A>G	ESP,gnomAD
NCI-TCGA novel	p.Arg376Ile	missense variant	-	NC_000012.12:g.98665724G>T	NCI-TCGA
rs770350894	p.Arg376Thr	missense variant	-	NC_000012.12:g.98665724G>C	ExAC,gnomAD
rs773700554	p.Glu377Gln	missense variant	-	NC_000012.12:g.98665726G>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu377Lys	missense variant	-	NC_000012.12:g.98665726G>A	NCI-TCGA
rs201629052	p.Asp378Ala	missense variant	-	NC_000012.12:g.98665730A>C	1000Genomes,ExAC,gnomAD
rs201629052	p.Asp378Gly	missense variant	-	NC_000012.12:g.98665730A>G	1000Genomes,ExAC,gnomAD
COSM944892	p.Asp378Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98665729G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ile379Met	missense variant	-	NC_000012.12:g.98665734C>G	NCI-TCGA
rs1251992214	p.Tyr382Asp	missense variant	-	NC_000012.12:g.98665741T>G	gnomAD
rs927344084	p.Tyr382Ser	missense variant	-	NC_000012.12:g.98665742A>C	TOPMed,gnomAD
rs766680485	p.Thr384Ala	missense variant	-	NC_000012.12:g.98665747A>G	ExAC,TOPMed,gnomAD
rs1245274488	p.Thr384Arg	missense variant	-	NC_000012.12:g.98665748C>G	gnomAD
rs1164373366	p.Asp385Asn	missense variant	-	NC_000012.12:g.98665750G>A	TOPMed
rs1445453802	p.Leu386Phe	missense variant	-	NC_000012.12:g.98665753C>T	gnomAD
rs1310426717	p.Ser387Cys	missense variant	-	NC_000012.12:g.98665757C>G	TOPMed,gnomAD
rs1389249015	p.Gln390Arg	missense variant	-	NC_000012.12:g.98665766A>G	gnomAD
rs570250043	p.Val393Ile	missense variant	-	NC_000012.12:g.98665774G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1172506101	p.Lys394Arg	missense variant	-	NC_000012.12:g.98665778A>G	gnomAD
NCI-TCGA novel	p.Lys394Thr	missense variant	-	NC_000012.12:g.98665778A>C	NCI-TCGA
rs1261022174	p.Pro396Ser	missense variant	-	NC_000012.12:g.98665783C>T	TOPMed,gnomAD
rs1261022174	p.Pro396Ala	missense variant	-	NC_000012.12:g.98665783C>G	TOPMed,gnomAD
rs753782480	p.Thr397Ala	missense variant	-	NC_000012.12:g.98665786A>G	ExAC,gnomAD
rs371118366	p.Cys401Arg	missense variant	-	NC_000012.12:g.98666196T>C	ESP,ExAC,TOPMed,gnomAD
rs766131635	p.Ile402Val	missense variant	-	NC_000012.12:g.98666199A>G	ExAC,gnomAD
rs766131635	p.Ile402Phe	missense variant	-	NC_000012.12:g.98666199A>T	ExAC,gnomAD
rs1421932898	p.Leu403Pro	missense variant	-	NC_000012.12:g.98666203T>C	gnomAD
rs941756431	p.Met406Ile	missense variant	-	NC_000012.12:g.98666213G>A	TOPMed
rs1295941185	p.Glu407Gln	missense variant	-	NC_000012.12:g.98666214G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Glu407Ala	missense variant	-	NC_000012.12:g.98666215A>C	NCI-TCGA
rs754647777	p.Thr408Ala	missense variant	-	NC_000012.12:g.98666217A>G	ExAC,gnomAD
rs780618856	p.Glu410Lys	missense variant	-	NC_000012.12:g.98666223G>A	ExAC,gnomAD
rs780618856	p.Glu410Gln	missense variant	-	NC_000012.12:g.98666223G>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu410Val	missense variant	-	NC_000012.12:g.98666224A>T	NCI-TCGA
COSM3466779	p.Val411Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98666227T>C	NCI-TCGA Cosmic
rs752227133	p.Asp413Tyr	missense variant	-	NC_000012.12:g.98666232G>T	ExAC,gnomAD
rs755648185	p.Ile414Thr	missense variant	-	NC_000012.12:g.98666236T>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu417Asp	missense variant	-	NC_000012.12:g.98666246G>T	NCI-TCGA
COSM944893	p.Glu417Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98666244G>A	NCI-TCGA Cosmic
rs1444871075	p.Phe418Ser	missense variant	-	NC_000012.12:g.98666248T>C	TOPMed
rs140772800	p.Asn420Ser	missense variant	-	NC_000012.12:g.98666254A>G	ESP,ExAC,TOPMed,gnomAD
rs771263499	p.Asn420Asp	missense variant	-	NC_000012.12:g.98666253A>G	ExAC,gnomAD
COSM3872755	p.Ser422Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98666260C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu423PhePheSerTerUnk	frameshift	-	NC_000012.12:g.98666259_98666260TC>-	NCI-TCGA
COSM5078964	p.Leu424IlePheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.98666263_98666264TT>-	NCI-TCGA Cosmic
rs1482550096	p.Cys426Gly	missense variant	-	NC_000012.12:g.98666271T>G	TOPMed
rs1263053370	p.Arg428Gln	missense variant	-	NC_000012.12:g.98666278G>A	TOPMed
NCI-TCGA novel	p.Arg428Trp	missense variant	-	NC_000012.12:g.98666277C>T	NCI-TCGA
rs1180826003	p.Asn429His	missense variant	-	NC_000012.12:g.98666280A>C	gnomAD
rs552032520	p.Gly430Arg	missense variant	-	NC_000012.12:g.98666283G>A	1000Genomes,ExAC,gnomAD
rs775647653	p.Ser432Trp	missense variant	-	NC_000012.12:g.98666290C>G	ExAC,gnomAD
rs775647653	p.Ser432Leu	missense variant	-	NC_000012.12:g.98666290C>T	ExAC,gnomAD
rs773139246	p.Phe433Leu	missense variant	-	NC_000012.12:g.98666294T>G	ExAC,gnomAD
rs368429786	p.Arg434Cys	missense variant	-	NC_000012.12:g.98666295C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201872620	p.Arg434His	missense variant	-	NC_000012.12:g.98666296G>A	1000Genomes,ExAC,gnomAD
rs759154322	p.Tyr436Phe	missense variant	-	NC_000012.12:g.98666302A>T	ExAC,gnomAD
rs1409349806	p.Tyr436His	missense variant	-	NC_000012.12:g.98666301T>C	gnomAD
rs767233730	p.His438Arg	missense variant	-	NC_000012.12:g.98666308A>G	ExAC,TOPMed,gnomAD
rs752354073	p.Asp439Gly	missense variant	-	NC_000012.12:g.98666311A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asp439Ala	missense variant	-	NC_000012.12:g.98666311A>C	NCI-TCGA
rs1394117838	p.Leu440Pro	missense variant	-	NC_000012.12:g.98666314T>C	TOPMed
rs144721573	p.Asp443Asn	missense variant	-	NC_000012.12:g.98666322G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp443Tyr	missense variant	-	NC_000012.12:g.98666322G>T	NCI-TCGA
rs75622772	p.Thr446Ser	missense variant	-	NC_000012.12:g.98666331A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1180490017	p.Glu447Gly	missense variant	-	NC_000012.12:g.98666335A>G	gnomAD
NCI-TCGA novel	p.Lys448Asn	missense variant	-	NC_000012.12:g.98666339G>T	NCI-TCGA
rs1022878589	p.Asn449Thr	missense variant	-	NC_000012.12:g.98666341A>C	TOPMed
NCI-TCGA novel	p.Asn449ThrPheSerTerUnk	stop gained	-	NC_000012.12:g.98666340_98666341insCATAACACCT	NCI-TCGA
rs139378273	p.Cys450Trp	missense variant	-	NC_000012.12:g.98666345C>G	ESP,ExAC,TOPMed,gnomAD
COSM4929243	p.Leu453Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98666352C>A	NCI-TCGA Cosmic
rs371633206	p.Leu453Phe	missense variant	-	NC_000012.12:g.98666352C>T	ESP,ExAC,TOPMed,gnomAD
rs150056794	p.Gln454Arg	missense variant	-	NC_000012.12:g.98666356A>G	ESP,ExAC,TOPMed,gnomAD
rs780260260	p.Gln454Ter	stop gained	-	NC_000012.12:g.98666355C>T	ExAC,gnomAD
rs755160411	p.Lys458Glu	missense variant	-	NC_000012.12:g.98667522A>G	ExAC,gnomAD
rs1475413327	p.Lys458Asn	missense variant	-	NC_000012.12:g.98667524G>C	TOPMed
rs1454723746	p.Ile461Phe	missense variant	-	NC_000012.12:g.98667531A>T	gnomAD
rs1338493851	p.Thr462Ile	missense variant	-	NC_000012.12:g.98667535C>T	gnomAD
rs76732147	p.Gln465Arg	missense variant	-	NC_000012.12:g.98667544A>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln465Ter	stop gained	-	NC_000012.12:g.98667543C>T	NCI-TCGA
rs913728516	p.Arg466Ser	missense variant	-	NC_000012.12:g.98667548A>C	TOPMed,gnomAD
rs553425177	p.Tyr467Asp	missense variant	-	NC_000012.12:g.98667549T>G	1000Genomes,ExAC,gnomAD
rs774346140	p.His468Pro	missense variant	-	NC_000012.12:g.98667553A>C	ExAC,gnomAD
rs774346140	p.His468Arg	missense variant	-	NC_000012.12:g.98667553A>G	ExAC,gnomAD
rs1261895310	p.Gln469His	missense variant	-	NC_000012.12:g.98667557G>C	gnomAD
rs145393515	p.Pro470Leu	missense variant	-	NC_000012.12:g.98667559C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu473Val	missense variant	-	NC_000012.12:g.98667567C>G	NCI-TCGA
rs369544125	p.Pro475Leu	missense variant	-	NC_000012.12:g.98667574C>T	ESP,ExAC,TOPMed,gnomAD
rs1446824707	p.Asp476His	missense variant	-	NC_000012.12:g.98667576G>C	gnomAD
rs1038164796	p.Gln477Arg	missense variant	-	NC_000012.12:g.98667580A>G	TOPMed
rs775397727	p.Glu478Lys	missense variant	-	NC_000012.12:g.98667582G>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu478LysPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.98667581G>-	NCI-TCGA
rs373209321	p.Asp479Gly	missense variant	-	NC_000012.12:g.98667586A>G	ESP,ExAC,TOPMed,gnomAD
rs149223130	p.Asp479Glu	missense variant	-	NC_000012.12:g.98667587C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs563990765	p.Met481Lys	missense variant	-	NC_000012.12:g.98667592T>A	1000Genomes,ExAC,gnomAD
rs776110169	p.Met481Leu	missense variant	-	NC_000012.12:g.98667591A>T	ExAC,TOPMed,gnomAD
COSM696224	p.Asn485Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98667605C>G	NCI-TCGA Cosmic
rs750996873	p.Ala488Thr	missense variant	-	NC_000012.12:g.98667612G>A	ExAC,gnomAD
rs1056152480	p.Tyr489Cys	missense variant	-	NC_000012.12:g.98667616A>G	TOPMed,gnomAD
rs758901927	p.Met491Val	missense variant	-	NC_000012.12:g.98667621A>G	ExAC,gnomAD
rs1320859195	p.Met491Lys	missense variant	-	NC_000012.12:g.98667622T>A	gnomAD
rs747796064	p.Ala492Thr	missense variant	-	NC_000012.12:g.98667624G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala492Val	missense variant	-	NC_000012.12:g.98667625C>T	NCI-TCGA
rs1349490636	p.Ser493Asn	missense variant	-	NC_000012.12:g.98667628G>A	gnomAD
rs143963802	p.Ala494Val	missense variant	-	NC_000012.12:g.98667631C>T	ESP,ExAC,TOPMed
rs906775719	p.Lys495Glu	missense variant	-	NC_000012.12:g.98667633A>G	TOPMed
rs755284995	p.Met496Val	missense variant	-	NC_000012.12:g.98667636A>G	ExAC,TOPMed,gnomAD
rs781420888	p.His497Tyr	missense variant	-	NC_000012.12:g.98667639C>T	ExAC,gnomAD
NCI-TCGA novel	p.Lys498Arg	missense variant	-	NC_000012.12:g.98667643A>G	NCI-TCGA
rs759895384	p.Ala502Val	missense variant	-	NC_000012.12:g.98670983C>T	ExAC,TOPMed,gnomAD
COSM944895	p.Ala502Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98670983C>A	NCI-TCGA Cosmic
rs753017289	p.Met504Val	missense variant	-	NC_000012.12:g.98670988A>G	ExAC,TOPMed,gnomAD
rs1363656906	p.Lys511Arg	missense variant	-	NC_000012.12:g.98671010A>G	TOPMed,gnomAD
rs756263592	p.Ala512Thr	missense variant	-	NC_000012.12:g.98671012G>A	ExAC,gnomAD
COSM274001	p.Lys513Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98671017A>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu515Lys	missense variant	-	NC_000012.12:g.98671021G>A	NCI-TCGA
rs1336415243	p.Gly518Val	missense variant	-	NC_000012.12:g.98671031G>T	TOPMed
rs544766657	p.Pro519Ser	missense variant	-	NC_000012.12:g.98671033C>T	gnomAD
rs1396327023	p.Ala520Pro	missense variant	-	NC_000012.12:g.98671036G>C	TOPMed
rs146424586	p.His521Arg	missense variant	-	NC_000012.12:g.98671040A>G	ESP,ExAC,gnomAD
rs757373827	p.His521Tyr	missense variant	-	NC_000012.12:g.98671039C>T	ExAC
NCI-TCGA novel	p.Glu525Ter	stop gained	-	NC_000012.12:g.98671051G>T	NCI-TCGA
rs1170726364	p.Phe526Ile	missense variant	-	NC_000012.12:g.98671054T>A	TOPMed
rs746887648	p.Tyr529Cys	missense variant	-	NC_000012.12:g.98671064A>G	ExAC,gnomAD
rs780845725	p.Arg530Lys	missense variant	-	NC_000012.12:g.98671067G>A	ExAC,gnomAD
rs769307688	p.His531Arg	missense variant	-	NC_000012.12:g.98671070A>G	ExAC,gnomAD
rs955423331	p.Ile532Val	missense variant	-	NC_000012.12:g.98671072A>G	TOPMed,gnomAD
rs772870332	p.Leu533Gln	missense variant	-	NC_000012.12:g.98671076T>A	ExAC,gnomAD
rs762479508	p.Asp534Gly	missense variant	-	NC_000012.12:g.98671079A>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu535Gly	missense variant	-	NC_000012.12:g.98671082A>G	NCI-TCGA
NCI-TCGA novel	p.Asp537GlyPheSerTerUnk	frameshift	-	NC_000012.12:g.98671081_98671082insA	NCI-TCGA
rs748879722	p.Cys538Ser	missense variant	-	NC_000012.12:g.98671539G>C	ExAC,gnomAD
rs777293241	p.Cys538Arg	missense variant	-	NC_000012.12:g.98671538T>C	ExAC,TOPMed,gnomAD
rs1261028134	p.Val540Ile	missense variant	-	NC_000012.12:g.98671544G>A	gnomAD
rs921384110	p.Ser541Thr	missense variant	-	NC_000012.12:g.98671548G>C	TOPMed,gnomAD
rs1171939618	p.Glu542Lys	missense variant	-	NC_000012.12:g.98671550G>A	gnomAD
NCI-TCGA novel	p.Asn543Ser	missense variant	-	NC_000012.12:g.98671554A>G	NCI-TCGA
rs372400613	p.Phe544Ile	missense variant	-	NC_000012.12:g.98671556T>A	ESP,ExAC,TOPMed,gnomAD
rs376175905	p.Phe547Ile	missense variant	-	NC_000012.12:g.98671565T>A	ESP,ExAC,TOPMed,gnomAD
rs746426956	p.Leu548Ter	stop gained	-	NC_000012.12:g.98671569T>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu548TyrPheSerTerUnk	frameshift	-	NC_000012.12:g.98671565T>-	NCI-TCGA
rs1407835062	p.Ser549Pro	missense variant	-	NC_000012.12:g.98671571T>C	gnomAD
COSM268673	p.Gly552Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98671581G>A	NCI-TCGA Cosmic
rs772482875	p.His553Tyr	missense variant	-	NC_000012.12:g.98671583C>T	ExAC,gnomAD
rs776028107	p.Leu555Pro	missense variant	-	NC_000012.12:g.98671590T>C	ExAC,TOPMed,gnomAD
rs760954769	p.Gly556Arg	missense variant	-	NC_000012.12:g.98671592G>C	ExAC,TOPMed,gnomAD
rs764463198	p.Arg557Ter	stop gained	-	NC_000012.12:g.98671595C>T	ExAC,TOPMed,gnomAD
rs1221735162	p.Arg557Gln	missense variant	-	NC_000012.12:g.98671596G>A	gnomAD
rs1265305842	p.Gln558His	missense variant	-	NC_000012.12:g.98671600G>T	gnomAD
rs777052879	p.Phe560Leu	missense variant	-	NC_000012.12:g.98671606T>A	ExAC,gnomAD
rs1188259366	p.Pro561Arg	missense variant	-	NC_000012.12:g.98671608C>G	gnomAD
rs1484864510	p.Pro561Thr	missense variant	-	NC_000012.12:g.98671607C>A	gnomAD
rs762122714	p.Asn562Asp	missense variant	-	NC_000012.12:g.98671610A>G	ExAC,TOPMed,gnomAD
rs1401863373	p.Asn562Ser	missense variant	-	NC_000012.12:g.98671611A>G	gnomAD
rs1196625693	p.Val564Ile	missense variant	-	NC_000012.12:g.98671616G>A	gnomAD
rs1343756322	p.Gln565His	missense variant	-	NC_000012.12:g.98671621A>C	TOPMed,gnomAD
rs758454889	p.Gln565Arg	missense variant	-	NC_000012.12:g.98671620A>G	ExAC,gnomAD
rs1335438800	p.Gln565Ter	stop gained	-	NC_000012.12:g.98671619C>T	TOPMed
rs767385385	p.Cys569Tyr	missense variant	-	NC_000012.12:g.98671632G>A	ExAC,gnomAD
rs752612461	p.Pro571Leu	missense variant	-	NC_000012.12:g.98671638C>T	ExAC,TOPMed,gnomAD
rs1472965121	p.Glu572Asp	missense variant	-	NC_000012.12:g.98671642A>C	TOPMed
rs1411422739	p.Tyr577Cys	missense variant	-	NC_000012.12:g.98671656A>G	TOPMed
COSM1365083	p.Tyr577Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.98671657T>G	NCI-TCGA Cosmic
rs1285208826	p.Tyr577Ter	stop gained	-	NC_000012.12:g.98671657T>A	TOPMed,gnomAD
rs1484102400	p.Ala584Ser	missense variant	-	NC_000012.12:g.98671676G>T	TOPMed
rs199975148	p.Lys585Arg	missense variant	-	NC_000012.12:g.98671680A>G	1000Genomes,ExAC
rs939965305	p.Gln586Glu	missense variant	-	NC_000012.12:g.98671682C>G	TOPMed,gnomAD
rs745404599	p.Asp589Asn	missense variant	-	NC_000012.12:g.98671691G>A	ExAC,gnomAD
rs1490148284	p.Asp589Gly	missense variant	-	NC_000012.12:g.98671692A>G	gnomAD
rs1459892805	p.Leu593Val	missense variant	-	NC_000012.12:g.98671703C>G	TOPMed
rs61758870	p.Tyr594Cys	missense variant	-	NC_000012.12:g.98671707A>G	ExAC,gnomAD
rs61758870	p.Tyr594Phe	missense variant	-	NC_000012.12:g.98671707A>T	ExAC,gnomAD
rs1478166133	p.Glu596Lys	missense variant	-	NC_000012.12:g.98671712G>A	gnomAD
rs768970288	p.Ile598Leu	missense variant	-	NC_000012.12:g.98671718A>T	ExAC,gnomAD
rs1285958255	p.Asn599Thr	missense variant	-	NC_000012.12:g.98677427A>C	gnomAD
NCI-TCGA novel	p.Lys600Thr	missense variant	-	NC_000012.12:g.98677430A>C	NCI-TCGA
rs1356953024	p.Ile603Phe	missense variant	-	NC_000012.12:g.98677438A>T	gnomAD
rs771761157	p.Thr604Met	missense variant	-	NC_000012.12:g.98677442C>T	ExAC,TOPMed,gnomAD
rs554955493	p.Arg608His	missense variant	-	NC_000012.12:g.98677454G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs916104396	p.Arg608Cys	missense variant	-	NC_000012.12:g.98677453C>T	TOPMed,gnomAD
rs1242106810	p.Val610Leu	missense variant	-	NC_000012.12:g.98677459G>C	gnomAD
rs371897242	p.Arg612Cys	missense variant	-	NC_000012.12:g.98677465C>T	ESP,ExAC,TOPMed,gnomAD
rs375182344	p.Arg612His	missense variant	-	NC_000012.12:g.98677466G>A	ESP,ExAC,TOPMed,gnomAD
rs1166261150	p.Pro613Arg	missense variant	-	NC_000012.12:g.98677469C>G	gnomAD
rs1421676580	p.Thr615Ser	missense variant	-	NC_000012.12:g.98677474A>T	gnomAD
rs1176032182	p.His620Arg	missense variant	-	NC_000012.12:g.98677490A>G	gnomAD
rs1404180192	p.Ala621Gly	missense variant	-	NC_000012.12:g.98677493C>G	gnomAD
rs1429891882	p.Ser624Cys	missense variant	-	NC_000012.12:g.98677502C>G	TOPMed,gnomAD
rs73142307	p.Glu625Val	missense variant	-	NC_000012.12:g.98677505A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs73142307	p.Glu625Ala	missense variant	-	NC_000012.12:g.98677505A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753712744	p.Asp626Asn	missense variant	-	NC_000012.12:g.98677507G>A	ExAC,TOPMed,gnomAD
rs1312856356	p.Gly627Ser	missense variant	-	NC_000012.12:g.98677510G>A	TOPMed
rs1262178451	p.Gln628Ter	stop gained	-	NC_000012.12:g.98677513C>T	gnomAD
rs1320897192	p.Arg629Lys	missense variant	-	NC_000012.12:g.98677517G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Arg629Ile	missense variant	-	NC_000012.12:g.98677517G>T	NCI-TCGA
rs1202548008	p.Ile630Met	missense variant	-	NC_000012.12:g.98677521A>G	gnomAD
rs1387174506	p.Ala631Thr	missense variant	-	NC_000012.12:g.98677522G>A	TOPMed
rs761612379	p.Ser632Phe	missense variant	-	NC_000012.12:g.98677526C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys637Thr	missense variant	-	NC_000012.12:g.98677541A>C	NCI-TCGA
rs765006856	p.Leu639Phe	missense variant	-	NC_000012.12:g.98677548A>T	ExAC,gnomAD
rs140327382	p.Gln640Arg	missense variant	-	NC_000012.12:g.98677550A>G	ESP,ExAC,TOPMed,gnomAD
rs761736799	p.Phe642Ser	missense variant	-	NC_000012.12:g.98680281T>C	ExAC
rs765058180	p.Ala644Val	missense variant	-	NC_000012.12:g.98680287C>T	ExAC,gnomAD
rs773038605	p.Thr646Ile	missense variant	-	NC_000012.12:g.98680293C>T	ExAC,gnomAD
COSM944898	p.Gly647Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.98680295G>T	NCI-TCGA Cosmic
rs1205407334	p.Glu648Gln	missense variant	-	NC_000012.12:g.98680298G>C	TOPMed
rs1387975195	p.Lys649Glu	missense variant	-	NC_000012.12:g.98680301A>G	gnomAD
rs995082570	p.Leu651Val	missense variant	-	NC_000012.12:g.98680307C>G	TOPMed,gnomAD
rs1334793867	p.Lys654Met	missense variant	-	NC_000012.12:g.98680317A>T	gnomAD
rs762608144	p.Ala655Val	missense variant	-	NC_000012.12:g.98680320C>T	ExAC,TOPMed,gnomAD
rs762608144	p.Ala655Gly	missense variant	-	NC_000012.12:g.98680320C>G	ExAC,TOPMed,gnomAD
rs1311834024	p.His656Tyr	missense variant	-	NC_000012.12:g.98680322C>T	gnomAD
rs1355090223	p.Asp658Gly	missense variant	-	NC_000012.12:g.98680329A>G	TOPMed,gnomAD
rs1355090223	p.Asp658Val	missense variant	-	NC_000012.12:g.98680329A>T	TOPMed,gnomAD
NCI-TCGA novel	p.Glu659Ter	stop gained	-	NC_000012.12:g.98680331G>T	NCI-TCGA
COSM1477023	p.Glu659Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98680331G>A	NCI-TCGA Cosmic
rs545873173	p.Cys662Phe	missense variant	-	NC_000012.12:g.98680341G>T	1000Genomes,ExAC,gnomAD
rs751106475	p.Cys663Ter	stop gained	-	NC_000012.12:g.98680345T>A	ExAC,gnomAD
rs1210494090	p.Phe665Leu	missense variant	-	NC_000012.12:g.98680349T>C	gnomAD
COSM1477024	p.Ser666Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98680353C>G	NCI-TCGA Cosmic
rs753320288	p.Asp668Val	missense variant	-	NC_000012.12:g.98680359A>T	ExAC,gnomAD
rs1343656146	p.Asp669Asn	missense variant	-	NC_000012.12:g.98680361G>A	TOPMed
rs756655231	p.Asp669Val	missense variant	-	NC_000012.12:g.98680362A>T	ExAC,TOPMed,gnomAD
rs914658027	p.Arg670Lys	missense variant	-	NC_000012.12:g.98680365G>A	TOPMed,gnomAD
rs778044060	p.Ile672Val	missense variant	-	NC_000012.12:g.98680370A>G	ExAC,TOPMed,gnomAD
rs1192389390	p.Ala673Thr	missense variant	-	NC_000012.12:g.98680373G>A	TOPMed,gnomAD
rs1429896032	p.Thr674Ala	missense variant	-	NC_000012.12:g.98680376A>G	gnomAD
rs757500870	p.Val677Leu	missense variant	-	NC_000012.12:g.98680385G>C	ExAC,TOPMed,gnomAD
rs757500870	p.Val677Met	missense variant	-	NC_000012.12:g.98680385G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp678Asn	missense variant	-	NC_000012.12:g.98680388G>A	NCI-TCGA
rs1163276261	p.Lys679Arg	missense variant	-	NC_000012.12:g.98680392A>G	TOPMed,gnomAD
COSM944899	p.Lys680Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98680394A>C	NCI-TCGA Cosmic
rs988423435	p.Lys680Asn	missense variant	-	NC_000012.12:g.98680396A>C	TOPMed,gnomAD
rs764355213	p.Asn685Ser	missense variant	-	NC_000012.12:g.98683150A>G	TOPMed,gnomAD
rs757702293	p.Ser686Thr	missense variant	-	NC_000012.12:g.98683152T>A	ExAC,gnomAD
COSM3813297	p.Ser686Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98683153C>A	NCI-TCGA Cosmic
rs779144426	p.Met687Val	missense variant	-	NC_000012.12:g.98683155A>G	ExAC,TOPMed,gnomAD
rs1214032614	p.Gly689Glu	missense variant	-	NC_000012.12:g.98683162G>A	TOPMed
rs780203359	p.Glu690Asp	missense variant	-	NC_000012.12:g.98683166A>T	ExAC,gnomAD
rs758597432	p.Glu690Gln	missense variant	-	NC_000012.12:g.98683164G>C	ExAC,gnomAD
COSM6138714	p.Glu690Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98683164G>A	NCI-TCGA Cosmic
rs1331761793	p.Leu691Val	missense variant	-	NC_000012.12:g.98683167C>G	gnomAD
rs768551064	p.Val692Ala	missense variant	-	NC_000012.12:g.98683171T>C	ExAC,gnomAD
rs1292515698	p.His693Tyr	missense variant	-	NC_000012.12:g.98683173C>T	TOPMed
rs1484208059	p.Thr694Ser	missense variant	-	NC_000012.12:g.98683177C>G	gnomAD
rs773212660	p.Tyr695Cys	missense variant	-	NC_000012.12:g.98683180A>G	ExAC,gnomAD
rs773212660	p.Tyr695Phe	missense variant	-	NC_000012.12:g.98683180A>T	ExAC,gnomAD
rs547042610	p.Asp696His	missense variant	-	NC_000012.12:g.98683182G>C	1000Genomes,ExAC,gnomAD
rs774252639	p.Glu697Lys	missense variant	-	NC_000012.12:g.98683185G>A	ExAC,gnomAD
rs1479880814	p.His698Arg	missense variant	-	NC_000012.12:g.98683189A>G	gnomAD
rs771871531	p.Gln701Glu	missense variant	-	NC_000012.12:g.98683197C>G	ExAC,TOPMed,gnomAD
rs375497407	p.Asn703Ser	missense variant	-	NC_000012.12:g.98683204A>G	ESP,ExAC,TOPMed,gnomAD
rs1277747453	p.Cys704Tyr	missense variant	-	NC_000012.12:g.98683207G>A	TOPMed
rs760249414	p.Cys705Ter	stop gained	-	NC_000012.12:g.98683211C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser710Gly	missense variant	-	NC_000012.12:g.98683224A>G	NCI-TCGA
rs757675000	p.Ser711Asn	missense variant	-	NC_000012.12:g.98683228G>A	ExAC,gnomAD
rs757675000	p.Ser711Ile	missense variant	-	NC_000012.12:g.98683228G>T	ExAC,gnomAD
rs754439819	p.His712Tyr	missense variant	-	NC_000012.12:g.98683230C>T	ExAC,TOPMed,gnomAD
rs762198187	p.His712Gln	missense variant	-	NC_000012.12:g.98683232T>A	ExAC,gnomAD
rs1345151023	p.His712Arg	missense variant	-	NC_000012.12:g.98683231A>G	gnomAD
rs765639224	p.His713Gln	missense variant	-	NC_000012.12:g.98683235T>A	ExAC,gnomAD
rs1273605038	p.Leu714Pro	missense variant	-	NC_000012.12:g.98683237T>C	TOPMed,gnomAD
rs750808870	p.Thr718Ser	missense variant	-	NC_000012.12:g.98683249C>G	ExAC,TOPMed,gnomAD
COSM4045596	p.Gly719Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98683251G>A	NCI-TCGA Cosmic
rs758724237	p.Cys723Tyr	missense variant	-	NC_000012.12:g.98683264G>A	ExAC,gnomAD
NCI-TCGA novel	p.Phe724Leu	missense variant	-	NC_000012.12:g.98683268C>A	NCI-TCGA
rs751721415	p.Lys726Arg	missense variant	-	NC_000012.12:g.98683273A>G	ExAC,gnomAD
rs1236679061	p.Trp728Arg	missense variant	-	NC_000012.12:g.98686751T>C	gnomAD
rs1159830268	p.Asn731Ser	missense variant	-	NC_000012.12:g.98686761A>G	gnomAD
rs371385003	p.Glu734Gly	missense variant	-	NC_000012.12:g.98686770A>G	ESP,ExAC,TOPMed,gnomAD
COSM3813298	p.Glu734Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.98686769G>T	NCI-TCGA Cosmic
rs150355642	p.Arg736Ter	stop gained	-	NC_000012.12:g.98686775C>T	ESP,ExAC,TOPMed,gnomAD
rs751875283	p.Arg736Leu	missense variant	-	NC_000012.12:g.98686776G>T	ExAC,TOPMed,gnomAD
rs751875283	p.Arg736Gln	missense variant	-	NC_000012.12:g.98686776G>A	ExAC,TOPMed,gnomAD
rs150355642	p.Arg736Gly	missense variant	-	NC_000012.12:g.98686775C>G	ESP,ExAC,TOPMed,gnomAD
rs1349514649	p.Asn737Thr	missense variant	-	NC_000012.12:g.98686779A>C	TOPMed
rs1441682462	p.Thr738Asn	missense variant	-	NC_000012.12:g.98686782C>A	gnomAD
rs1196634330	p.Met739Ile	missense variant	-	NC_000012.12:g.98686786G>A	TOPMed,gnomAD
rs1329531937	p.Met739Val	missense variant	-	NC_000012.12:g.98686784A>G	TOPMed,gnomAD
rs1329531937	p.Met739Leu	missense variant	-	NC_000012.12:g.98686784A>C	TOPMed,gnomAD
rs138068283	p.Met739Thr	missense variant	-	NC_000012.12:g.98686785T>C	ESP,ExAC
rs1377038331	p.Thr743Ile	missense variant	-	NC_000012.12:g.98686797C>T	gnomAD
rs372234984	p.Ser745Leu	missense variant	-	NC_000012.12:g.98686803C>T	ESP,ExAC,TOPMed,gnomAD
rs752738676	p.Asn747Ser	missense variant	-	NC_000012.12:g.98686809A>G	ExAC,gnomAD
rs756177170	p.His748Arg	missense variant	-	NC_000012.12:g.98686812A>G	ExAC,TOPMed,gnomAD
RCV000624564	p.Arg750Lys	missense variant	Inborn genetic diseases	NC_000012.12:g.98686818G>A	ClinVar
rs1555218231	p.Arg750Lys	missense variant	-	NC_000012.12:g.98686818G>A	-
COSM4045601	p.Asp754Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98686831T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp755Gly	missense variant	-	NC_000012.12:g.98686833A>G	NCI-TCGA
rs745791119	p.Lys756Met	missense variant	-	NC_000012.12:g.98686836A>T	ExAC,gnomAD
rs746728734	p.Gly765Ala	missense variant	-	NC_000012.12:g.98686863G>C	ExAC,gnomAD
rs1459426851	p.Thr766Pro	missense variant	-	NC_000012.12:g.98686865A>C	gnomAD
rs949895875	p.Thr766Asn	missense variant	-	NC_000012.12:g.98686866C>A	gnomAD
rs949895875	p.Thr766Ile	missense variant	-	NC_000012.12:g.98686866C>T	gnomAD
rs1351972494	p.Asp771Asn	missense variant	-	NC_000012.12:g.98699414G>A	TOPMed,gnomAD
rs758392274	p.Ala772Val	missense variant	-	NC_000012.12:g.98699418C>T	ExAC,gnomAD
rs746811712	p.Thr773Ala	missense variant	-	NC_000012.12:g.98699420A>G	ExAC,gnomAD
rs1426054825	p.Asn776His	missense variant	-	NC_000012.12:g.98699429A>C	TOPMed,gnomAD
rs138526583	p.Glu777Lys	missense variant	-	NC_000012.12:g.98699432G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1265709632	p.Glu777Asp	missense variant	-	NC_000012.12:g.98699434G>C	TOPMed,gnomAD
rs780723168	p.Lys779Arg	missense variant	-	NC_000012.12:g.98699439A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser780Ile	missense variant	-	NC_000012.12:g.98699442G>T	NCI-TCGA
rs747821940	p.Ile781Val	missense variant	-	NC_000012.12:g.98699444A>G	ExAC,gnomAD
rs117235991	p.Asn782Thr	missense variant	-	NC_000012.12:g.98699448A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772678360	p.Asn782Lys	missense variant	-	NC_000012.12:g.98699449T>A	ExAC,gnomAD
rs774877020	p.Gln785Arg	missense variant	-	NC_000012.12:g.98699457A>G	ExAC,gnomAD
rs889240648	p.Phe786Leu	missense variant	-	NC_000012.12:g.98699461C>G	-
COSM1365087	p.Phe787SerPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.98699461C>-	NCI-TCGA Cosmic
rs528458271	p.Leu788Val	missense variant	-	NC_000012.12:g.98699465C>G	1000Genomes,ExAC,gnomAD
COSM1365088	p.Asn789Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98699468A>T	NCI-TCGA Cosmic
rs943472496	p.Pro793Arg	missense variant	-	NC_000012.12:g.98699481C>G	TOPMed,gnomAD
rs767861971	p.Pro793Thr	missense variant	-	NC_000012.12:g.98699480C>A	ExAC,TOPMed,gnomAD
rs943472496	p.Pro793Leu	missense variant	-	NC_000012.12:g.98699481C>T	TOPMed,gnomAD
rs181546874	p.Glu795Gln	missense variant	-	NC_000012.12:g.98699486G>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000623514	p.Glu795Gln	missense variant	Inborn genetic diseases	NC_000012.12:g.98699486G>C	ClinVar
rs942746028	p.Met797Thr	missense variant	-	NC_000012.12:g.98699493T>C	TOPMed
rs764323516	p.Met797Val	missense variant	-	NC_000012.12:g.98699492A>G	ExAC,gnomAD
rs139083690	p.Ile800Leu	missense variant	-	NC_000012.12:g.98699501A>T	ESP
rs372032284	p.Ile800Met	missense variant	-	NC_000012.12:g.98699503A>G	ESP,ExAC,TOPMed,gnomAD
rs1265368365	p.Val801Ala	missense variant	-	NC_000012.12:g.98699505T>C	gnomAD
rs375207439	p.Ser805Leu	missense variant	-	NC_000012.12:g.98699517C>T	ESP,ExAC,TOPMed,gnomAD
rs375207439	p.Ser805Ter	stop gained	-	NC_000012.12:g.98699517C>A	ESP,ExAC,TOPMed,gnomAD
rs754789767	p.Trp806Arg	missense variant	-	NC_000012.12:g.98699519T>C	ExAC,gnomAD
rs747836791	p.Ala808Pro	missense variant	-	NC_000012.12:g.98699525G>C	ExAC,gnomAD
rs755740436	p.Ala808Asp	missense variant	-	NC_000012.12:g.98699526C>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp809Asn	missense variant	-	NC_000012.12:g.98699528G>A	NCI-TCGA
rs777352704	p.Arg812Ser	missense variant	-	NC_000012.12:g.98699539G>T	ExAC,TOPMed,gnomAD
rs1361940729	p.Met814Ile	missense variant	-	NC_000012.12:g.98699545G>C	TOPMed,gnomAD
rs1438877391	p.Met814Val	missense variant	-	NC_000012.12:g.98699543A>G	gnomAD
rs1361940729	p.Met814Ile	missense variant	-	NC_000012.12:g.98699545G>A	TOPMed,gnomAD
rs903003824	p.Val815Gly	missense variant	-	NC_000012.12:g.98699547T>G	TOPMed,gnomAD
rs1322540971	p.Ala816Glu	missense variant	-	NC_000012.12:g.98699550C>A	gnomAD
rs770359398	p.Ala816Ser	missense variant	-	NC_000012.12:g.98699549G>T	ExAC,gnomAD
rs779299447	p.Lys818Glu	missense variant	-	NC_000012.12:g.98699555A>G	ExAC,gnomAD
rs746385368	p.Lys818Arg	missense variant	-	NC_000012.12:g.98699556A>G	ExAC,TOPMed,gnomAD
rs772365446	p.Asn819Ile	missense variant	-	NC_000012.12:g.98699559A>T	ExAC,gnomAD
NCI-TCGA novel	p.Ile821LysPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.98699564_98699565insAAGAAAAAGTT	NCI-TCGA
NCI-TCGA novel	p.Ile821Val	missense variant	-	NC_000012.12:g.98699564A>G	NCI-TCGA
rs1446559673	p.Phe824Leu	missense variant	-	NC_000012.12:g.98703376T>G	gnomAD
rs986611316	p.Phe824Tyr	missense variant	-	NC_000012.12:g.98703375T>A	TOPMed
NCI-TCGA novel	p.Asp825Tyr	missense variant	-	NC_000012.12:g.98703377G>T	NCI-TCGA
rs746413382	p.Ile826Val	missense variant	-	NC_000012.12:g.98703380A>G	ExAC,gnomAD
rs988787535	p.His827Asn	missense variant	-	NC_000012.12:g.98703383C>A	TOPMed
rs988787535	p.His827Tyr	missense variant	-	NC_000012.12:g.98703383C>T	TOPMed
COSM6074174	p.Ser829Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98703389A>T	NCI-TCGA Cosmic
rs772659675	p.Leu831Val	missense variant	-	NC_000012.12:g.98703395C>G	ExAC,gnomAD
rs1358771338	p.Gly833Ala	missense variant	-	NC_000012.12:g.98703402G>C	gnomAD
rs1370612608	p.His836Arg	missense variant	-	NC_000012.12:g.98703411A>G	TOPMed
rs748739981	p.His836Tyr	missense variant	-	NC_000012.12:g.98703410C>T	ExAC,TOPMed,gnomAD
rs200461221	p.Thr837Met	missense variant	-	NC_000012.12:g.98703414C>T	ExAC,gnomAD
rs200461221	p.Thr837Arg	missense variant	-	NC_000012.12:g.98703414C>G	ExAC,gnomAD
rs1366254921	p.His839Arg	missense variant	-	NC_000012.12:g.98703420A>G	gnomAD
rs1473476431	p.Ser841Asn	missense variant	-	NC_000012.12:g.98703426G>A	gnomAD
rs760473774	p.Thr842Ile	missense variant	-	NC_000012.12:g.98703429C>T	ExAC,gnomAD
rs61742041	p.Tyr845Ter	stop gained	-	NC_000012.12:g.98703439C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs763860807	p.Tyr845His	missense variant	-	NC_000012.12:g.98703437T>C	ExAC,gnomAD
rs552696308	p.Asp847Asn	missense variant	-	NC_000012.12:g.98703443G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Asp847Tyr	missense variant	-	NC_000012.12:g.98703443G>T	NCI-TCGA
rs577187794	p.Phe848Val	missense variant	-	NC_000012.12:g.98703446T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs577187794	p.Phe848Ile	missense variant	-	NC_000012.12:g.98703446T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs757781136	p.Ser849Phe	missense variant	-	NC_000012.12:g.98703450C>T	ExAC,TOPMed,gnomAD
rs757781136	p.Ser849Tyr	missense variant	-	NC_000012.12:g.98703450C>A	ExAC,TOPMed,gnomAD
rs1277817599	p.Pro850Ala	missense variant	-	NC_000012.12:g.98703452C>G	TOPMed,gnomAD
rs1277817599	p.Pro850Ser	missense variant	-	NC_000012.12:g.98703452C>T	TOPMed,gnomAD
rs1330866440	p.Ser860Phe	missense variant	-	NC_000012.12:g.98703483C>T	TOPMed
rs1046589664	p.Cys863Arg	missense variant	-	NC_000012.12:g.98703491T>C	TOPMed,gnomAD
rs1314286419	p.Cys863Tyr	missense variant	-	NC_000012.12:g.98703492G>A	TOPMed
rs1046589664	p.Cys863Gly	missense variant	-	NC_000012.12:g.98703491T>G	TOPMed,gnomAD
rs935330987	p.Asn868His	missense variant	-	NC_000012.12:g.98706491A>C	TOPMed
rs145807191	p.Ser871Leu	missense variant	-	NC_000012.12:g.98706501C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs139940389	p.Arg872His	missense variant	-	NC_000012.12:g.98706504G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs763928339	p.Arg872Gly	missense variant	-	NC_000012.12:g.98706503C>G	ExAC,TOPMed,gnomAD
rs763928339	p.Arg872Cys	missense variant	-	NC_000012.12:g.98706503C>T	ExAC,TOPMed,gnomAD
rs1211021082	p.Ser873Ter	stop gained	-	NC_000012.12:g.98706507C>G	gnomAD
rs761477565	p.Cys878Arg	missense variant	-	NC_000012.12:g.98706521T>C	ExAC,gnomAD
rs764952058	p.Gly880Arg	missense variant	-	NC_000012.12:g.98706527G>A	ExAC,gnomAD
rs749986237	p.His881Arg	missense variant	-	NC_000012.12:g.98706531A>G	ExAC,gnomAD
rs1185700637	p.Trp884Cys	missense variant	-	NC_000012.12:g.98706541G>C	gnomAD
rs765984453	p.Val888Gly	missense variant	-	NC_000012.12:g.98706552T>G	ExAC,gnomAD
rs752153806	p.Pro892Ser	missense variant	-	NC_000012.12:g.98706563C>T	ExAC,TOPMed,gnomAD
rs61757705	p.Gly894Glu	missense variant	-	NC_000012.12:g.98706570G>A	ESP,ExAC,TOPMed,gnomAD
rs199525775	p.Leu898Val	missense variant	-	NC_000012.12:g.98706581T>G	1000Genomes,ExAC,gnomAD
rs1158549284	p.Ser900Thr	missense variant	-	NC_000012.12:g.98706587T>A	gnomAD
rs1401919701	p.Asp902Gly	missense variant	-	NC_000012.12:g.98706594A>G	gnomAD
rs1358745830	p.Asp902Asn	missense variant	-	NC_000012.12:g.98706593G>A	gnomAD
rs1358745830	p.Asp902Tyr	missense variant	-	NC_000012.12:g.98706593G>T	gnomAD
rs751135737	p.Lys912Glu	missense variant	-	NC_000012.12:g.98708597A>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys912Asn	missense variant	-	NC_000012.12:g.98708599G>T	NCI-TCGA
rs759075433	p.Val914Ala	missense variant	-	NC_000012.12:g.98708604T>C	ExAC,gnomAD
rs1300938565	p.Val920Ala	missense variant	-	NC_000012.12:g.98708622T>C	TOPMed
rs1037139719	p.Met921Thr	missense variant	-	NC_000012.12:g.98708625T>C	TOPMed,gnomAD
rs1236890095	p.Val926Leu	missense variant	-	NC_000012.12:g.98708639G>T	gnomAD
NCI-TCGA novel	p.Asp927Gly	missense variant	-	NC_000012.12:g.98708643A>G	NCI-TCGA
rs1177878843	p.Val928Ile	missense variant	-	NC_000012.12:g.98708645G>A	TOPMed,gnomAD
rs527785409	p.Val928Ala	missense variant	-	NC_000012.12:g.98708646T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs779069813	p.Gln931His	missense variant	-	NC_000012.12:g.98708656A>C	ExAC,gnomAD
rs757495661	p.Gln931Leu	missense variant	-	NC_000012.12:g.98708655A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln931Ter	stop gained	-	NC_000012.12:g.98708654C>T	NCI-TCGA
COSM944903	p.Glu932Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.98708657G>T	NCI-TCGA Cosmic
rs745954515	p.Met936Ile	missense variant	-	NC_000012.12:g.98708671G>A	ExAC,gnomAD
NCI-TCGA novel	p.Met936Leu	insertion	-	NC_000012.12:g.98708671_98708672insCTA	NCI-TCGA
rs772086661	p.Val937Ala	missense variant	-	NC_000012.12:g.98708673T>C	ExAC,gnomAD
rs772086661	p.Val937Asp	missense variant	-	NC_000012.12:g.98708673T>A	ExAC,gnomAD
NCI-TCGA novel	p.Val937GluPheSerTerUnk	frameshift	-	NC_000012.12:g.98708672_98708673insAAAGGTT	NCI-TCGA
rs1403684533	p.Leu938Phe	missense variant	-	NC_000012.12:g.98708675C>T	TOPMed
rs762784665	p.Ile943Met	missense variant	-	NC_000012.12:g.98708692A>G	ExAC,gnomAD
rs1280035474	p.Ile943Arg	missense variant	-	NC_000012.12:g.98708691T>G	TOPMed,gnomAD
rs1280035474	p.Ile943Lys	missense variant	-	NC_000012.12:g.98708691T>A	TOPMed,gnomAD
rs146420669	p.Arg945Leu	missense variant	-	NC_000012.12:g.98708697G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146420669	p.Arg945His	missense variant	-	NC_000012.12:g.98708697G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs774076296	p.Arg945Cys	missense variant	-	NC_000012.12:g.98708696C>T	ExAC,TOPMed,gnomAD
rs1210750547	p.Leu946Val	missense variant	-	NC_000012.12:g.98708699C>G	gnomAD
rs1198449155	p.Gln947Arg	missense variant	-	NC_000012.12:g.98708703A>G	gnomAD
rs771652223	p.Leu948Phe	missense variant	-	NC_000012.12:g.98712319C>T	ExAC,gnomAD
rs1244055611	p.Ile949Val	missense variant	-	NC_000012.12:g.98712322A>G	TOPMed,gnomAD
rs1476273292	p.Gly951Arg	missense variant	-	NC_000012.12:g.98712328G>A	gnomAD
rs201911170	p.Gly951Glu	missense variant	-	NC_000012.12:g.98712329G>A	ExAC,TOPMed,gnomAD
rs777065914	p.Thr953Arg	missense variant	-	NC_000012.12:g.98712335C>G	ExAC,TOPMed,gnomAD
rs777065914	p.Thr953Ile	missense variant	-	NC_000012.12:g.98712335C>T	ExAC,TOPMed,gnomAD
rs763464521	p.Thr953Ala	missense variant	-	NC_000012.12:g.98712334A>G	ExAC,TOPMed,gnomAD
rs1398831485	p.Gly954Cys	missense variant	-	NC_000012.12:g.98712337G>T	gnomAD
rs140836008	p.Gly954Val	missense variant	-	NC_000012.12:g.98712338G>T	TOPMed,gnomAD
rs140836008	p.Gly954Asp	missense variant	-	NC_000012.12:g.98712338G>A	TOPMed,gnomAD
rs1431964456	p.Gln955His	missense variant	-	NC_000012.12:g.98712342G>C	gnomAD
rs762223867	p.Tyr958Asp	missense variant	-	NC_000012.12:g.98712349T>G	ExAC,TOPMed,gnomAD
rs1429607769	p.Val964Ile	missense variant	-	NC_000012.12:g.98712367G>A	TOPMed
rs1237211013	p.Ser965Asn	missense variant	-	NC_000012.12:g.98712371G>A	gnomAD
rs750688002	p.Cys966Arg	missense variant	-	NC_000012.12:g.98712373T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln974Ter	stop gained	-	NC_000012.12:g.98712397C>T	NCI-TCGA
NCI-TCGA novel	p.Gln974SerPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.98712397C>-	NCI-TCGA
rs1214460415	p.Ile976Leu	missense variant	-	NC_000012.12:g.98712403A>C	gnomAD
rs1447748369	p.Ala984Thr	missense variant	-	NC_000012.12:g.98712427G>A	gnomAD
rs751620088	p.Ala984Val	missense variant	-	NC_000012.12:g.98712428C>T	ExAC,TOPMed,gnomAD
rs751620088	p.Ala984Gly	missense variant	-	NC_000012.12:g.98712428C>G	ExAC,TOPMed,gnomAD
rs771655993	p.Ile987Val	missense variant	-	NC_000012.12:g.98715427A>G	ExAC,TOPMed,gnomAD
rs746515411	p.Glu989Ter	stop gained	-	NC_000012.12:g.98715433G>T	ExAC,gnomAD
rs768199255	p.Glu989Asp	missense variant	-	NC_000012.12:g.98715435A>C	ExAC,gnomAD
rs1179538281	p.Val991Leu	missense variant	-	NC_000012.12:g.98715439G>T	gnomAD
rs1179538281	p.Val991Ile	missense variant	-	NC_000012.12:g.98715439G>A	gnomAD
NCI-TCGA novel	p.Val991GluPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.98715440T>-	NCI-TCGA
NCI-TCGA novel	p.Asn992ThrPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.98715441A>-	NCI-TCGA
rs201541593	p.Asn993Ser	missense variant	-	NC_000012.12:g.98715446A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn993Ile	missense variant	-	NC_000012.12:g.98715446A>T	NCI-TCGA
rs1365089266	p.Asn993Asp	missense variant	-	NC_000012.12:g.98715445A>G	gnomAD
rs765642913	p.Ile995Phe	missense variant	-	NC_000012.12:g.98715451A>T	ExAC,gnomAD
rs1391745806	p.Phe996Leu	missense variant	-	NC_000012.12:g.98715456C>G	gnomAD
rs773591717	p.Arg999Gly	missense variant	-	NC_000012.12:g.98715463A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg999Met	missense variant	-	NC_000012.12:g.98715464G>T	NCI-TCGA
rs763334786	p.Gln1001Arg	missense variant	-	NC_000012.12:g.98715470A>G	ExAC,gnomAD
rs201122276	p.His1002Arg	missense variant	-	NC_000012.12:g.98715473A>G	1000Genomes,ExAC
rs367942061	p.Lys1003Glu	missense variant	-	NC_000012.12:g.98715475A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys1003Asn	missense variant	-	NC_000012.12:g.98715477G>T	NCI-TCGA
rs1309756637	p.Lys1004Glu	missense variant	-	NC_000012.12:g.98715478A>G	gnomAD
rs753865642	p.Trp1007Arg	missense variant	-	NC_000012.12:g.98715487T>C	ExAC,gnomAD
rs1294233498	p.Gln1010His	missense variant	-	NC_000012.12:g.98715498G>T	TOPMed
rs865856278	p.Phe1011Leu	missense variant	-	NC_000012.12:g.98715499T>C	gnomAD
rs1337144915	p.Thr1012Ile	missense variant	-	NC_000012.12:g.98715503C>T	gnomAD
rs1457139942	p.Asp1014Glu	missense variant	-	NC_000012.12:g.98715510T>A	gnomAD
rs745664662	p.Asp1014Asn	missense variant	-	NC_000012.12:g.98715508G>A	ExAC,TOPMed,gnomAD
rs1310365747	p.Glu1015Lys	missense variant	-	NC_000012.12:g.98715511G>A	TOPMed
rs566445624	p.Lys1016Asn	missense variant	-	NC_000012.12:g.98715516G>C	ExAC,gnomAD
rs560213908	p.Leu1018Val	missense variant	-	NC_000012.12:g.98715520C>G	1000Genomes,ExAC,gnomAD
rs749487254	p.Ile1019Thr	missense variant	-	NC_000012.12:g.98715524T>C	TOPMed
rs1041072160	p.Ser1021Asn	missense variant	-	NC_000012.12:g.98715530G>A	TOPMed
rs527314665	p.Ser1022Pro	missense variant	-	NC_000012.12:g.98715532T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs372125027	p.Asp1023Tyr	missense variant	-	NC_000012.12:g.98715535G>T	ESP,ExAC,gnomAD
rs1423412865	p.Asp1024Ala	missense variant	-	NC_000012.12:g.98715539A>C	gnomAD
rs77127123	p.Ala1025Val	missense variant	-	NC_000012.12:g.98715542C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs77127123	p.Ala1025Gly	missense variant	-	NC_000012.12:g.98715542C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs77127123	p.Ala1025Asp	missense variant	-	NC_000012.12:g.98715542C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1488705546	p.Ile1027Met	missense variant	-	NC_000012.12:g.98715549T>G	TOPMed,gnomAD
rs1172295929	p.Val1029Ile	missense variant	-	NC_000012.12:g.98723193G>A	gnomAD
rs769232906	p.Trp1030Cys	missense variant	-	NC_000012.12:g.98723198G>T	ExAC,gnomAD
rs1377417508	p.Trp1030Arg	missense variant	-	NC_000012.12:g.98723196T>C	TOPMed,gnomAD
rs1297826286	p.Asn1031Asp	missense variant	-	NC_000012.12:g.98723199A>G	gnomAD
NCI-TCGA novel	p.Trp1032Ter	stop gained	-	NC_000012.12:g.98723204G>A	NCI-TCGA
rs1297404420	p.Leu1034Phe	missense variant	-	NC_000012.12:g.98723210G>T	gnomAD
rs771239250	p.Asp1035Gly	missense variant	-	NC_000012.12:g.98723212A>G	ExAC,TOPMed,gnomAD
rs1326772970	p.Asp1035Asn	missense variant	-	NC_000012.12:g.98723211G>A	gnomAD
rs891427283	p.Cys1037Tyr	missense variant	-	NC_000012.12:g.98723218G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Cys1037Phe	missense variant	-	NC_000012.12:g.98723218G>T	NCI-TCGA
rs146238655	p.Ile1038Val	missense variant	-	NC_000012.12:g.98723220A>G	ESP,ExAC,TOPMed,gnomAD
rs139016212	p.Arg1041Ter	stop gained	-	NC_000012.12:g.98723229C>T	ESP,ExAC,TOPMed,gnomAD
rs1284880203	p.Arg1041Gln	missense variant	-	NC_000012.12:g.98723230G>A	TOPMed,gnomAD
rs1188686896	p.His1043Gln	missense variant	-	NC_000012.12:g.98723237T>G	gnomAD
COSM4911163	p.His1043Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98723236A>G	NCI-TCGA Cosmic
rs1484658397	p.His1043Asp	missense variant	-	NC_000012.12:g.98723235C>G	gnomAD
rs1174338455	p.Lys1048Gln	missense variant	-	NC_000012.12:g.98723250A>C	TOPMed
rs1365471845	p.Phe1050Ile	missense variant	-	NC_000012.12:g.98723256T>A	gnomAD
NCI-TCGA novel	p.Asn1055Asp	missense variant	-	NC_000012.12:g.98723271A>G	NCI-TCGA
rs1192380601	p.Arg1057Gly	missense variant	-	NC_000012.12:g.98723277A>G	gnomAD
COSM944908	p.Ser1062Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98723292T>C	NCI-TCGA Cosmic
COSM469122	p.Asp1064Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98723299A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp1064His	missense variant	-	NC_000012.12:g.98723298G>C	NCI-TCGA
rs775798433	p.Lys1068Glu	missense variant	-	NC_000012.12:g.98723310A>G	ExAC,gnomAD
rs772552908	p.Val1069Leu	missense variant	-	NC_000012.12:g.98723639G>T	ExAC,gnomAD
rs1324796082	p.Trp1070Leu	missense variant	-	NC_000012.12:g.98723643G>T	TOPMed
rs775922661	p.Asn1071Thr	missense variant	-	NC_000012.12:g.98723646A>C	ExAC,TOPMed,gnomAD
rs1370631738	p.Ile1072Phe	missense variant	-	NC_000012.12:g.98723648A>T	gnomAD
rs945612121	p.Ile1073Phe	missense variant	-	NC_000012.12:g.98723651A>T	TOPMed,gnomAD
rs945612121	p.Ile1073Val	missense variant	-	NC_000012.12:g.98723651A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Gly1075Val	missense variant	-	NC_000012.12:g.98723658G>T	NCI-TCGA
rs1333644746	p.Asn1076Tyr	missense variant	-	NC_000012.12:g.98723660A>T	gnomAD
rs761762347	p.Gln1085His	missense variant	-	NC_000012.12:g.98723689G>C	ExAC,TOPMed,gnomAD
rs776799189	p.Gln1085Ter	stop gained	-	NC_000012.12:g.98723687C>T	ExAC,gnomAD
rs1481331123	p.Val1088Glu	missense variant	-	NC_000012.12:g.98723697T>A	TOPMed
rs774095537	p.Leu1089Ile	missense variant	-	NC_000012.12:g.98723699C>A	ExAC,TOPMed,gnomAD
rs1198087424	p.Cys1091Tyr	missense variant	-	NC_000012.12:g.98723706G>A	TOPMed
rs759382270	p.His1095Asp	missense variant	-	NC_000012.12:g.98723717C>G	ExAC,gnomAD
rs538479133	p.Asp1096Asn	missense variant	-	NC_000012.12:g.98723720G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys1099Thr	missense variant	-	NC_000012.12:g.98723730A>C	NCI-TCGA
rs753417958	p.Ser1101Leu	missense variant	-	NC_000012.12:g.98723736C>T	ExAC,TOPMed,gnomAD
rs1166212907	p.Ser1101Ala	missense variant	-	NC_000012.12:g.98723735T>G	gnomAD
rs756653729	p.Ser1102Phe	missense variant	-	NC_000012.12:g.98723739C>T	ExAC,gnomAD
rs1354234840	p.Asp1106Gly	missense variant	-	NC_000012.12:g.98723751A>G	gnomAD
rs758874019	p.Lys1107Glu	missense variant	-	NC_000012.12:g.98723753A>G	ExAC,gnomAD
rs780544831	p.Thr1108Ala	missense variant	-	NC_000012.12:g.98723756A>G	ExAC,gnomAD
rs747331633	p.Ala1109Thr	missense variant	-	NC_000012.12:g.98723759G>A	ExAC,gnomAD
rs1347613927	p.Ala1109Glu	missense variant	-	NC_000012.12:g.98723760C>A	gnomAD
NCI-TCGA novel	p.Ala1109Val	missense variant	-	NC_000012.12:g.98723760C>T	NCI-TCGA
rs1215717956	p.Ile1111Met	missense variant	-	NC_000012.12:g.98725417C>G	gnomAD
rs747384651	p.Ser1113Asn	missense variant	-	NC_000012.12:g.98725422G>A	ExAC,gnomAD
rs1280241646	p.Ser1113Arg	missense variant	-	NC_000012.12:g.98725421A>C	TOPMed,gnomAD
rs138188210	p.Leu1116Arg	missense variant	-	NC_000012.12:g.98725431T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138188210	p.Leu1116Pro	missense variant	-	NC_000012.12:g.98725431T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755242803	p.Leu1116Val	missense variant	-	NC_000012.12:g.98725430C>G	ExAC,gnomAD
rs755242803	p.Leu1116Phe	missense variant	-	NC_000012.12:g.98725430C>T	ExAC,gnomAD
rs748311911	p.Leu1120Ile	missense variant	-	NC_000012.12:g.98725442C>A	ExAC,gnomAD
rs1342072892	p.Leu1123Phe	missense variant	-	NC_000012.12:g.98725453G>T	TOPMed
rs769952075	p.Arg1124Thr	missense variant	-	NC_000012.12:g.98725455G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg1124Lys	missense variant	-	NC_000012.12:g.98725455G>A	NCI-TCGA
rs777805227	p.Gly1125Arg	missense variant	-	NC_000012.12:g.98725457G>C	ExAC,gnomAD
rs1394330327	p.His1126Arg	missense variant	-	NC_000012.12:g.98725461A>G	gnomAD
rs772027707	p.Gly1128Ser	missense variant	-	NC_000012.12:g.98725466G>A	ExAC,TOPMed,gnomAD
rs1375709252	p.Cys1129Tyr	missense variant	-	NC_000012.12:g.98725470G>A	gnomAD
rs775336955	p.Cys1129Trp	missense variant	-	NC_000012.12:g.98725471T>G	ExAC,gnomAD
rs753741775	p.Arg1131His	missense variant	-	NC_000012.12:g.98725476G>A	ExAC,TOPMed,gnomAD
rs760531403	p.Arg1131Cys	missense variant	-	NC_000012.12:g.98725475C>T	ExAC,TOPMed,gnomAD
rs1303333746	p.Cys1132Trp	missense variant	-	NC_000012.12:g.98725480C>G	gnomAD
rs963014137	p.Ser1133Phe	missense variant	-	NC_000012.12:g.98725482C>T	TOPMed
rs776387511	p.Asp1138Tyr	missense variant	-	NC_000012.12:g.98725496G>T	ExAC,gnomAD
rs1236634608	p.Asp1138Val	missense variant	-	NC_000012.12:g.98725497A>T	gnomAD
rs764895219	p.Ser1139Arg	missense variant	-	NC_000012.12:g.98725501T>A	ExAC,gnomAD
rs761349739	p.Ser1139Gly	missense variant	-	NC_000012.12:g.98725499A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser1139Thr	missense variant	-	NC_000012.12:g.98725500G>C	NCI-TCGA
rs1286606399	p.Thr1140Ile	missense variant	-	NC_000012.12:g.98725503C>T	TOPMed,gnomAD
rs1252321441	p.Ala1143Thr	missense variant	-	NC_000012.12:g.98725511G>A	gnomAD
rs762490601	p.Thr1144Ala	missense variant	-	NC_000012.12:g.98725514A>G	ExAC,TOPMed,gnomAD
rs767010301	p.Thr1144Met	missense variant	-	NC_000012.12:g.98725515C>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp1146Tyr	missense variant	-	NC_000012.12:g.98725520G>T	NCI-TCGA
rs1183266400	p.Asn1148Ser	missense variant	-	NC_000012.12:g.98725527A>G	TOPMed,gnomAD
rs1322402178	p.Gly1149Glu	missense variant	-	NC_000012.12:g.98725530G>A	TOPMed
rs547672538	p.Ile1151Phe	missense variant	-	NC_000012.12:g.98725535A>T	1000Genomes,ExAC,gnomAD
rs777981927	p.Trp1154Arg	missense variant	-	NC_000012.12:g.98727176T>A	ExAC,gnomAD
rs777981927	p.Trp1154Arg	missense variant	-	NC_000012.12:g.98727176T>C	ExAC,gnomAD
COSM4847904	p.Ser1157Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.98727186C>G	NCI-TCGA Cosmic
rs778943117	p.Gly1159Ser	missense variant	-	NC_000012.12:g.98727191G>A	ExAC,TOPMed
rs1389765950	p.Glu1160Asp	missense variant	-	NC_000012.12:g.98727196G>C	gnomAD
rs184890158	p.Glu1160Lys	missense variant	-	NC_000012.12:g.98727194G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs754904382	p.Leu1161Pro	missense variant	-	NC_000012.12:g.98727198T>C	ExAC,gnomAD
rs1336392953	p.His1163Tyr	missense variant	-	NC_000012.12:g.98727203C>T	TOPMed,gnomAD
rs781120511	p.Ala1166Gly	missense variant	-	NC_000012.12:g.98727213C>G	ExAC,TOPMed,gnomAD
rs761865771	p.Pro1167Leu	missense variant	-	NC_000012.12:g.98727216C>T	ExAC,TOPMed,gnomAD
rs769703045	p.Glu1170Gln	missense variant	-	NC_000012.12:g.98727224G>C	ExAC,gnomAD
rs773070279	p.Glu1171Gly	missense variant	-	NC_000012.12:g.98727228A>G	ExAC,gnomAD
rs748915330	p.Thr1175Ile	missense variant	-	NC_000012.12:g.98727240C>T	ExAC,TOPMed,gnomAD
rs773754048	p.His1176Leu	missense variant	-	NC_000012.12:g.98727243A>T	ExAC,TOPMed,gnomAD
rs773754048	p.His1176Arg	missense variant	-	NC_000012.12:g.98727243A>G	ExAC,TOPMed,gnomAD
rs1254876484	p.Gly1177Glu	missense variant	-	NC_000012.12:g.98727246G>A	gnomAD
rs767913331	p.Gly1177Arg	missense variant	-	NC_000012.12:g.98727245G>A	ExAC,gnomAD
rs776005626	p.Gly1178Asp	missense variant	-	NC_000012.12:g.98727249G>A	ExAC,gnomAD
rs1460953634	p.Leu1183Arg	missense variant	-	NC_000012.12:g.98727264T>G	TOPMed,gnomAD
rs754108532	p.Cys1184Tyr	missense variant	-	NC_000012.12:g.98727267G>A	ExAC,gnomAD
rs1469574620	p.Phe1185Leu	missense variant	-	NC_000012.12:g.98727269T>C	TOPMed
rs757493517	p.Phe1185Tyr	missense variant	-	NC_000012.12:g.98727270T>A	ExAC,gnomAD
rs1434177122	p.Pro1187Ser	missense variant	-	NC_000012.12:g.98727275C>T	gnomAD
rs1311292979	p.Asp1188Gly	missense variant	-	NC_000012.12:g.98727279A>G	gnomAD
rs1273410681	p.Asp1188His	missense variant	-	NC_000012.12:g.98727278G>C	TOPMed
NCI-TCGA novel	p.Asp1188Tyr	missense variant	-	NC_000012.12:g.98727278G>T	NCI-TCGA
rs765405502	p.Gly1189Asp	missense variant	-	NC_000012.12:g.98727282G>A	ExAC,gnomAD
rs1313217387	p.Met1191Ile	missense variant	-	NC_000012.12:g.98727289G>C	gnomAD
rs1264214781	p.Ile1193Thr	missense variant	-	NC_000012.12:g.98727294T>C	TOPMed
rs928100789	p.Ile1193Leu	missense variant	-	NC_000012.12:g.98727293A>C	TOPMed,gnomAD
rs1211761456	p.Ala1195Pro	missense variant	-	NC_000012.12:g.98727299G>C	gnomAD
rs1225227362	p.Gly1196Ala	missense variant	-	NC_000012.12:g.98727303G>C	gnomAD
rs1271853699	p.Tyr1198Cys	missense variant	-	NC_000012.12:g.98727309A>G	gnomAD
NCI-TCGA novel	p.Lys1200SerPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.98727314A>-	NCI-TCGA
rs1007216250	p.Val1204Ile	missense variant	-	NC_000012.12:g.98732429G>A	TOPMed
rs758478742	p.Val1205Phe	missense variant	-	NC_000012.12:g.98732432G>T	ExAC
rs1221336265	p.Thr1206Asn	missense variant	-	NC_000012.12:g.98732436C>A	TOPMed
rs914781090	p.Thr1206Pro	missense variant	-	NC_000012.12:g.98732435A>C	TOPMed
NCI-TCGA novel	p.Gly1207Trp	missense variant	-	NC_000012.12:g.98732438G>T	NCI-TCGA
NCI-TCGA novel	p.Glu1208GlyPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.98732437_98732438insG	NCI-TCGA
rs1167283390	p.Tyr1214Cys	missense variant	-	NC_000012.12:g.98732460A>G	TOPMed,gnomAD
COSM944909	p.Gly1217Ter	missense variant	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.98732468G>T	NCI-TCGA Cosmic
rs1199884610	p.Leu1220Phe	missense variant	-	NC_000012.12:g.98732477C>T	TOPMed
rs752622248	p.Lys1222Glu	missense variant	-	NC_000012.12:g.98732483A>G	ExAC,gnomAD
rs756138161	p.Ile1223Leu	missense variant	-	NC_000012.12:g.98732486A>T	ExAC,gnomAD
rs1397034513	p.Ile1223Thr	missense variant	-	NC_000012.12:g.98732487T>C	gnomAD
rs777810915	p.His1224Asn	missense variant	-	NC_000012.12:g.98732489C>A	ExAC,gnomAD
rs201029707	p.Val1225Met	missense variant	-	NC_000012.12:g.98732492G>A	ESP,ExAC,TOPMed,gnomAD
rs201029707	p.Val1225Leu	missense variant	-	NC_000012.12:g.98732492G>T	ESP,ExAC,TOPMed,gnomAD
rs778485671	p.Val1225Ala	missense variant	-	NC_000012.12:g.98732493T>C	ExAC,gnomAD
rs745529226	p.Ser1226Cys	missense variant	-	NC_000012.12:g.98732496C>G	ExAC,TOPMed,gnomAD
rs745529226	p.Ser1226Tyr	missense variant	-	NC_000012.12:g.98732496C>A	ExAC,TOPMed,gnomAD
rs1440143134	p.Pro1227Ala	missense variant	-	NC_000012.12:g.98732498C>G	gnomAD
rs142230441	p.Asp1228His	missense variant	-	NC_000012.12:g.98732501G>C	ESP,ExAC,gnomAD
rs902945001	p.Phe1229Cys	missense variant	-	NC_000012.12:g.98732505T>G	TOPMed
rs769157410	p.Lys1230Arg	missense variant	-	NC_000012.12:g.98732508A>G	ExAC,gnomAD
rs769157410	p.Lys1230Ile	missense variant	-	NC_000012.12:g.98732508A>T	ExAC,gnomAD
rs746482334	p.Lys1230Glu	missense variant	-	NC_000012.12:g.98732507A>G	ExAC,TOPMed,gnomAD
rs762226148	p.Asp1236Ala	missense variant	-	NC_000012.12:g.98732526A>C	ExAC
rs1336372390	p.Asp1236Asn	missense variant	-	NC_000012.12:g.98732525G>A	gnomAD
rs1269220874	p.Gly1239Val	missense variant	-	NC_000012.12:g.98732535G>T	gnomAD
NCI-TCGA novel	p.Gly1239Asp	missense variant	-	NC_000012.12:g.98732535G>A	NCI-TCGA
rs1433218417	p.Leu1241Ter	stop gained	-	NC_000012.12:g.98732541T>A	TOPMed
rs763208735	p.Tyr1242His	missense variant	-	NC_000012.12:g.98732543T>C	ExAC,gnomAD
NCI-TCGA novel	p.Tyr1242Cys	missense variant	-	NC_000012.12:g.98732544A>G	NCI-TCGA
rs1189146612	p.Gln1245Arg	missense variant	-	NC_000012.12:g.98732553A>G	TOPMed
rs1176645020	p.Gln1245Ter	stop gained	-	NC_000012.12:g.98732552C>T	gnomAD
rs369724536	p.Leu1247Ser	missense variant	-	NC_000012.12:g.98732559T>C	ESP,ExAC,TOPMed,gnomAD
rs1160150643	p.Glu1248Gln	missense variant	-	NC_000012.12:g.98732561G>C	TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0001418	Adenocarcinoma	group	BEFREE;LHGDN
C0001430	Adenoma	group	BEFREE
C0002726	Amyloidosis	disease	BEFREE
C0002736	Amyotrophic Lateral Sclerosis	disease	BEFREE
C0005684	Malignant neoplasm of urinary bladder	disease	BEFREE
C0005695	Bladder Neoplasm	group	BEFREE
C0005699	Blast Phase	disease	BEFREE;LHGDN
C0006118	Brain Neoplasms	group	LHGDN
C0006413	Burkitt Lymphoma	disease	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007134	Renal Cell Carcinoma	disease	BEFREE;CTD_human;LHGDN
C0007138	Carcinoma, Transitional Cell	disease	BEFREE;CTD_human
C0007786	Brain Ischemia	disease	RGD
C0008149	Chlamydia Infections	group	BEFREE
C0009081	Congenital clubfoot	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0009404	Colorectal Neoplasms	group	LHGDN
C0010346	Crohn Disease	disease	BEFREE
C0015393	Eye Abnormalities	group	CTD_human
C0015930	Fetal Distress	disease	BEFREE
C0017636	Glioblastoma	disease	BEFREE
C0017638	Glioma	disease	BEFREE
C0019196	Hepatitis C	disease	BEFREE
C0020179	Huntington Disease	disease	BEFREE
C0022665	Kidney Neoplasm	disease	BEFREE;LHGDN
C0023418	leukemia	disease	BEFREE;LHGDN
C0023434	Chronic Lymphocytic Leukemia	disease	BEFREE
C0023449	Acute lymphocytic leukemia	disease	BEFREE
C0023452	Childhood Acute Lymphoblastic Leukemia	disease	BEFREE
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE;LHGDN
C0023470	Myeloid Leukemia	disease	BEFREE
C0023473	Myeloid Leukemia, Chronic	disease	BEFREE;LHGDN
C0023893	Liver Cirrhosis, Experimental	disease	CTD_human
C0024299	Lymphoma	group	BEFREE;LHGDN
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025202	melanoma	disease	BEFREE;LHGDN
C0026764	Multiple Myeloma	disease	BEFREE
C0026846	Muscular Atrophy	phenotype	RGD
C0026985	Myelodysplasia	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE;LHGDN
C0027819	Neuroblastoma	group	BEFREE
C0028326	Noonan Syndrome	disease	MGD
C0029463	Osteosarcoma	disease	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0030567	Parkinson Disease	disease	BEFREE
C0033626	Protein Deficiency	disease	BEFREE
C0035305	Retinal Detachment	disease	CTD_human
C0037268	Skin Abnormalities	group	CTD_human
C0038356	Stomach Neoplasms	group	LHGDN
C0040136	Thyroid Neoplasm	disease	BEFREE
C0041582	Ulcer	disease	BEFREE
C0041696	Unipolar Depression	disease	BEFREE;PSYGENET
C0080178	Spina Bifida	disease	BEFREE
C0085669	Acute leukemia	disease	BEFREE
C0151779	Cutaneous Melanoma	disease	BEFREE
C0178874	Tumor Progression	phenotype	BEFREE
C0202236	Triglycerides measurement	phenotype	GWASDB
C0205851	Germ cell tumor	group	BEFREE
C0206769	Nevi and Melanomas	group	BEFREE
C0220620	Gastrointestinal Carcinoid Tumor	disease	BEFREE
C0235974	Pancreatic carcinoma	disease	BEFREE
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0268647	Lysinuric Protein Intolerance	disease	BEFREE
C0270824	Visual seizure	disease	RGD
C0278883	Metastatic melanoma	disease	BEFREE
C0279680	Transitional cell carcinoma of bladder	disease	BEFREE
C0279702	Conventional (Clear Cell) Renal Cell Carcinoma	disease	BEFREE;CTD_human
C0280324	Laryngeal Squamous Cell Carcinoma	disease	BEFREE
C0334424	Nodular melanoma	disease	BEFREE
C0339546	Retinal Pigment Epithelial Detachment	disease	CTD_human
C0346629	Malignant neoplasm of large intestine	disease	BEFREE
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0376545	Hematologic Neoplasms	group	BEFREE
C0376634	Craniofacial Abnormalities	group	CTD_human
C0494165	Secondary malignant neoplasm of liver	disease	BEFREE
C0524851	Neurodegenerative Disorders	group	BEFREE
C0585442	Osteosarcoma of bone	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0598766	Leukemogenesis	disease	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0677886	Epithelial ovarian cancer	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
C0740457	Malignant neoplasm of kidney	disease	BEFREE
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1261473	Sarcoma	group	BEFREE
C1262091	Lymphocytic infiltration	disease	BEFREE
C1266042	Chromophobe Renal Cell Carcinoma	disease	CTD_human
C1266043	Sarcomatoid Renal Cell Carcinoma	disease	CTD_human
C1266044	Collecting Duct Carcinoma of the Kidney	disease	CTD_human
C1269683	Major Depressive Disorder	disease	BEFREE;PSYGENET
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1306837	Papillary Renal Cell Carcinoma	disease	CTD_human
C1378703	Renal carcinoma	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1705254	Neonatal Deformity	disease	BEFREE
C1861305	TARSAL-CARPAL COALITION SYNDROME	disease	BEFREE
C1961102	Precursor Cell Lymphoblastic Leukemia Lymphoma	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE
C3463824	MYELODYSPLASTIC SYNDROME	group	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000166	nucleotide binding	TAS
GO:0005515	protein binding	IPI
GO:0005524	ATP binding	IEA
GO:0008656	cysteine-type endopeptidase activator activity involved in apoptotic process	NAS
GO:0008656	cysteine-type endopeptidase activator activity involved in apoptotic process	IBA
GO:0031072	heat shock protein binding	IEA
GO:0042802	identical protein binding	IEA
GO:0043531	ADP binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001666	response to hypoxia	IEA
GO:0001822	kidney development	IEA
GO:0001843	neural tube closure	IEA
GO:0006915	apoptotic process	TAS
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA
GO:0007399	nervous system development	TAS
GO:0007568	aging	IEA
GO:0007584	response to nutrient	IEA
GO:0008635	activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c	IBA
GO:0008635	activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c	IDA
GO:0008635	activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c	TAS
GO:0010659	cardiac muscle cell apoptotic process	IEA
GO:0030154	cell differentiation	IEA
GO:0030900	forebrain development	IEA
GO:0042981	regulation of apoptotic process	TAS
GO:0043065	positive regulation of apoptotic process	TAS
GO:0043312	neutrophil degranulation	TAS
GO:0051402	neuron apoptotic process	IEA
GO:0070059	intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IEA
GO:0070317	negative regulation of G0 to G1 transition	TAS
GO:0071560	cellular response to transforming growth factor beta stimulus	IEA
GO:0072432	response to G1 DNA damage checkpoint signaling	TAS
GO:0097193	intrinsic apoptotic signaling pathway	TAS
GO:1902510	regulation of apoptotic DNA fragmentation	IEA
GO:2001235	positive regulation of apoptotic signaling pathway	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005576	extracellular region	TAS
GO:0005634	nucleus	IEA
GO:0005829	cytosol	IBA
GO:0005829	cytosol	TAS
GO:0032991	protein-containing complex	IDA
GO:0034774	secretory granule lumen	TAS
GO:0043293	apoptosome	TAS
GO:0043293	apoptosome	IDA
GO:0043293	apoptosome	IBA
GO:0070062	extracellular exosome	HDA
GO:1904813	ficolin-1-rich granule lumen	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-109581	Apoptosis	TAS
R-HSA-109581	Apoptosis	IEA
R-HSA-109606	Intrinsic Pathway for Apoptosis	TAS
R-HSA-109606	Intrinsic Pathway for Apoptosis	IEA
R-HSA-111458	Formation of apoptosome	TAS
R-HSA-111458	Formation of apoptosome	IEA
R-HSA-111459	Activation of caspases through apoptosome-mediated cleavage	TAS
R-HSA-111461	Cytochrome c-mediated apoptotic response	TAS
R-HSA-111461	Cytochrome c-mediated apoptotic response	IEA
R-HSA-111463	SMAC (DIABLO) binds to IAPs	IEA
R-HSA-111464	SMAC(DIABLO)-mediated dissociation of IAP:caspase complexes	IEA
R-HSA-111469	SMAC, XIAP-regulated apoptotic response	IEA
R-HSA-111471	Apoptotic factor-mediated response	TAS
R-HSA-111471	Apoptotic factor-mediated response	IEA
R-HSA-168249	Innate Immune System	TAS
R-HSA-168256	Immune System	TAS
R-HSA-212436	Generic Transcription Pathway	TAS
R-HSA-3700989	Transcriptional Regulation by TP53	TAS
R-HSA-5357801	Programmed Cell Death	TAS
R-HSA-5357801	Programmed Cell Death	IEA
R-HSA-5633008	TP53 Regulates Transcription of Cell Death Genes	TAS
R-HSA-6798695	Neutrophil degranulation	TAS
R-HSA-6803207	TP53 Regulates Transcription of Caspase Activators and Caspases	TAS
R-HSA-73857	RNA Polymerase II Transcription	TAS
R-HSA-74160	Gene expression (Transcription)	TAS
R-HSA-8953750	Transcriptional Regulation by E2F6	TAS
R-HSA-9627069	Regulation of the apoptosome activity	TAS
R-HSA-9627069	Regulation of the apoptosome activity	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
C511295	2,2',4,4'-tetrabromodiphenyl ether	2,2',4,4'-tetrabromodiphenyl ether affects the expression of APAF1 mRNA	27589474
D019297	2,4-Dinitrophenol	2,4-Dinitrophenol results in increased expression of APAF1 mRNA alternative form	17064354
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of APAF1 mRNA	21346803
C049584	2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine	2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine results in decreased expression of APAF1 mRNA	20816883
C036990	2-amino-3,8-dimethylimidazo(4,5-f)quinoxaline	2-amino-3,8-dimethylimidazo(4,5-f)quinoxaline results in increased expression of APAF1 mRNA	20816883
C011506	2-methyl-4-isothiazolin-3-one	2-methyl-4-isothiazolin-3-one results in increased expression of APAF1 protein	29110394
C482492	3,4,5,4'-tetramethoxystilbene	3,4,5,4'-tetramethoxystilbene results in increased expression of APAF1 mRNA	22687606; 24055891;
C482492	3,4,5,4'-tetramethoxystilbene	[3,4,5,4'-tetramethoxystilbene co-treated with Diethylnitrosamine co-treated with Phenobarbital] affects the expression of APAF1 mRNA	27048571
C482492	3,4,5,4'-tetramethoxystilbene	3,4,5,4'-tetramethoxystilbene results in decreased expression of APAF1 mRNA	27048571
C472791	3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid	3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid results in increased expression of APAF1 mRNA	16788091
C090937	3-(5'-hydroxymethyl-2'-furyl)-1-benzylindazole	[cobaltous chloride co-treated with 3-(5'-hydroxymethyl-2'-furyl)-1-benzylindazole] results in increased expression of APAF1 mRNA	24265542
C017906	3-dinitrobenzene	3-dinitrobenzene results in increased expression of APAF1 mRNA	24140754
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in increased expression of APAF1 mRNA	25380136
C041594	4-nonylphenol	4-nonylphenol affects the expression of APAF1 mRNA	27109770
C041594	4-nonylphenol	4-nonylphenol results in increased expression of APAF1 protein	26804764; 27109770;
C580598	5-OH-BDE-47	5-OH-BDE-47 results in decreased expression of APAF1 mRNA	27589474
C010643	6-hydroxy-2,5,7,8-tetramethylchroman-2-carboxylic acid	6-hydroxy-2,5,7,8-tetramethylchroman-2-carboxylic acid inhibits the reaction [Cholesterol analog results in increased expression of APAF1 mRNA]	19477266
C580599	6-OH-BDE-47	6-OH-BDE-47 results in decreased expression of APAF1 mRNA	27589474
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in increased expression of APAF1 mRNA	28593498
D015124	8-Bromo Cyclic Adenosine Monophosphate	8-Bromo Cyclic Adenosine Monophosphate results in decreased expression of APAF1 mRNA	22079614
D015127	9,10-Dimethyl-1,2-benzanthracene	9,10-Dimethyl-1,2-benzanthracene results in decreased expression of APAF1 mRNA	21294050
D015127	9,10-Dimethyl-1,2-benzanthracene	9,10-Dimethyl-1,2-benzanthracene results in decreased expression of APAF1 protein	21294050
D015127	9,10-Dimethyl-1,2-benzanthracene	Quercetin inhibits the reaction [9,10-Dimethyl-1,2-benzanthracene results in decreased expression of APAF1 mRNA]	21294050
D015127	9,10-Dimethyl-1,2-benzanthracene	Quercetin inhibits the reaction [9,10-Dimethyl-1,2-benzanthracene results in decreased expression of APAF1 protein]	21294050
D015127	9,10-Dimethyl-1,2-benzanthracene	9,10-Dimethyl-1,2-benzanthracene results in decreased expression of APAF1 mRNA	25478867
D015127	9,10-Dimethyl-1,2-benzanthracene	9,10-Dimethyl-1,2-benzanthracene results in decreased expression of APAF1 protein	18791811; 25478867;
D015127	9,10-Dimethyl-1,2-benzanthracene	[Butyric Acid co-treated with Niacinamide co-treated with Glucaric Acid] inhibits the reaction [9,10-Dimethyl-1,2-benzanthracene results in decreased expression of APAF1 mRNA]	25478867
D015127	9,10-Dimethyl-1,2-benzanthracene	[Butyric Acid co-treated with Niacinamide co-treated with Glucaric Acid] inhibits the reaction [9,10-Dimethyl-1,2-benzanthracene results in decreased expression of APAF1 protein]	25478867
D015127	9,10-Dimethyl-1,2-benzanthracene	Butyric Acid inhibits the reaction [9,10-Dimethyl-1,2-benzanthracene results in decreased expression of APAF1 mRNA]	25478867
D015127	9,10-Dimethyl-1,2-benzanthracene	Butyric Acid inhibits the reaction [9,10-Dimethyl-1,2-benzanthracene results in decreased expression of APAF1 protein]	25478867
D015127	9,10-Dimethyl-1,2-benzanthracene	Glucaric Acid inhibits the reaction [9,10-Dimethyl-1,2-benzanthracene results in decreased expression of APAF1 mRNA]	25478867
D015127	9,10-Dimethyl-1,2-benzanthracene	Glucaric Acid inhibits the reaction [9,10-Dimethyl-1,2-benzanthracene results in decreased expression of APAF1 protein]	25478867
D015127	9,10-Dimethyl-1,2-benzanthracene	Niacinamide inhibits the reaction [9,10-Dimethyl-1,2-benzanthracene results in decreased expression of APAF1 mRNA]	25478867
D015127	9,10-Dimethyl-1,2-benzanthracene	Niacinamide inhibits the reaction [9,10-Dimethyl-1,2-benzanthracene results in decreased expression of APAF1 protein]	25478867
D015127	9,10-Dimethyl-1,2-benzanthracene	Resveratrol inhibits the reaction [9,10-Dimethyl-1,2-benzanthracene results in decreased expression of APAF1 protein]	18791811
C496492	abrine	abrine results in decreased expression of APAF1 mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in increased expression of APAF1 mRNA	22230336
D000082	Acetaminophen	Acetaminophen affects the expression of APAF1 mRNA	17562736
D000082	Acetaminophen	Acetaminophen results in increased expression of APAF1 mRNA	11752693
D000111	Acetylcysteine	Acetylcysteine inhibits the reaction [Cholesterol analog results in increased expression of APAF1 mRNA]	19477266
D000111	Acetylcysteine	Acetylcysteine inhibits the reaction [tert-Butylhydroperoxide results in increased expression of APAF1 protein]	15877105
D020106	Acrylamide	Acrylamide results in increased expression of APAF1 mRNA	21319176
D020106	Acrylamide	Acrylamide results in decreased expression of APAF1 mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of APAF1 mRNA	22100608; 29445054;
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of APAF1 mRNA	19770486
D000393	Air Pollutants	Air Pollutants analog results in decreased expression of APAF1 mRNA	21757418
D000395	Air Pollutants, Occupational	Air Pollutants, Occupational results in decreased expression of APAF1 mRNA	23195993
D000496	Alloxan	Alloxan results in decreased expression of APAF1 protein	21982801
D000496	Alloxan	Alloxan results in increased expression of APAF1 protein	23092809
D000496	Alloxan	Taurine inhibits the reaction [Alloxan results in increased expression of APAF1 protein]	23092809
D000517	alpha-Chlorohydrin	alpha-Chlorohydrin results in increased expression of APAF1 mRNA	30107153
D000517	alpha-Chlorohydrin	Apigenin inhibits the reaction [alpha-Chlorohydrin results in increased expression of APAF1 mRNA]	30107153
D047310	Apigenin	[Polylactic Acid-Polyglycolic Acid Copolymer co-treated with Apigenin] results in increased expression of APAF1 protein	24070738
D047310	Apigenin	Apigenin inhibits the reaction [alpha-Chlorohydrin results in increased expression of APAF1 mRNA]	30107153
D001151	Arsenic	Arsenic affects the reaction [GSTO1 gene alternative form results in increased expression of APAF1 mRNA]	22293942
D001151	Arsenic	Arsenic results in increased expression of APAF1 mRNA	19945496
D001152	Arsenicals	Arsenicals analog results in increased expression of APAF1 mRNA	16778962
D000077237	Arsenic Trioxide	Arsenic Trioxide results in increased expression of APAF1 protein	25258189
D000077237	Arsenic Trioxide	[Erlotinib Hydrochloride co-treated with Arsenic Trioxide] results in increased expression of APAF1 mRNA	29274334
D000077237	Arsenic Trioxide	[INCB018424 co-treated with Arsenic Trioxide] results in increased expression of APAF1 mRNA	30012499
D000077237	Arsenic Trioxide	Arsenic Trioxide results in increased expression of APAF1 mRNA	19730151
D001241	Aspirin	Aspirin results in increased expression of APAF1 mRNA	20457246
D001241	Aspirin	APAF1 results in increased susceptibility to Aspirin	11228543
C010329	azadirachtin	azadirachtin results in increased expression of APAF1 protein	20429769
C040929	bafilomycin A1	bafilomycin A1 results in increased expression of APAF1 protein	28483490
C580697	BDMC-A	BDMC-A results in increased expression of APAF1 protein	24365254
D001554	Benzene	Benzene results in increased expression of APAF1 protein	17171516
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of APAF1 mRNA	20064835
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of APAF1 mRNA	21393351
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of APAF1 protein	30659931
D001564	Benzo(a)pyrene	[Benzo(a)pyrene co-treated with sodium bichromate] results in increased expression of APAF1 mRNA	22613061
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of APAF1 mRNA	19770486; 21964900;
C103712	benzyloxycarbonyl-valyl-alanyl-aspartyl-fluoromethane	benzyloxycarbonyl-valyl-alanyl-aspartyl-fluoromethane results in increased expression of APAF1 protein	28483490
C044887	beta-methylcholine	beta-methylcholine affects the expression of APAF1 mRNA	21179406
C099952	bifenthrin	bifenthrin results in increased expression of APAF1 mRNA	26071804
C006780	bisphenol A	bisphenol A results in decreased expression of APAF1 mRNA	23557687
C006780	bisphenol A	bisphenol A results in decreased methylation of APAF1 intron	30906313
C006780	bisphenol A	bisphenol A results in decreased methylation of APAF1 promoter	30906313
C006780	bisphenol A	bisphenol A results in increased expression of APAF1 mRNA	29027980
C006780	bisphenol A	bisphenol A results in decreased expression of APAF1 mRNA	27685785
C006780	bisphenol A	bisphenol A results in decreased expression of APAF1 protein	21277958
C006780	bisphenol A	bisphenol A affects the expression of APAF1 mRNA	21786754
C006780	bisphenol A	bisphenol A results in decreased expression of APAF1 mRNA	30816183
C006780	bisphenol A	bisphenol A results in increased expression of APAF1 mRNA	25181051; 29097150;
C006780	bisphenol A	bisphenol A results in increased expression of APAF1 protein	23328667
C006780	bisphenol A	bisphenol A results in increased methylation of APAF1 gene	28505145
C005961	bis(tri-n-butyltin)oxide	bis(tri-n-butyltin)oxide results in increased expression of APAF1 mRNA	22434021
C022777	bufalin	bufalin results in increased expression of APAF1 protein	27444971
D020148	Butyric Acid	[Butyric Acid co-treated with Niacinamide co-treated with Glucaric Acid] inhibits the reaction [9,10-Dimethyl-1,2-benzanthracene results in decreased expression of APAF1 mRNA]	25478867
D020148	Butyric Acid	[Butyric Acid co-treated with Niacinamide co-treated with Glucaric Acid] inhibits the reaction [9,10-Dimethyl-1,2-benzanthracene results in decreased expression of APAF1 protein]	25478867
D020148	Butyric Acid	Butyric Acid inhibits the reaction [9,10-Dimethyl-1,2-benzanthracene results in decreased expression of APAF1 mRNA]	25478867
D020148	Butyric Acid	Butyric Acid inhibits the reaction [9,10-Dimethyl-1,2-benzanthracene results in decreased expression of APAF1 protein]	25478867
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of APAF1 protein	24291162
C034939	cadmium sulfide	cadmium sulfide results in increased expression of APAF1 mRNA	27866839
D002211	Capsaicin	Capsaicin results in increased expression of APAF1 mRNA	19502594
D002220	Carbamazepine	Carbamazepine affects the expression of APAF1 mRNA	24752500
C006698	carbendazim	carbendazim results in decreased expression of APAF1 mRNA	25304545
C006698	carbendazim	carbendazim results in increased expression of APAF1 mRNA	26055223
C054133	casticin	casticin results in increased expression of APAF1 protein	27862857
C030583	ceric oxide	ceric oxide results in increased expression of APAF1 protein	24987704
D007631	Chlordecone	Chlordecone results in increased expression of APAF1 mRNA	29458080
D020111	Chlorodiphenyl (54% Chlorine)	Chlorodiphenyl (54% Chlorine) results in increased expression of APAF1 protein	22406624
D004390	Chlorpyrifos	Chlorpyrifos results in increased expression of APAF1 protein	26435000
D004390	Chlorpyrifos	MitoTEMPO inhibits the reaction [Chlorpyrifos results in increased expression of APAF1 protein]	26435000
D004390	Chlorpyrifos	Chlorpyrifos results in decreased expression of APAF1 mRNA	20350560
D004390	Chlorpyrifos	Chlorpyrifos results in increased expression of APAF1 mRNA	27737797
D002784	Cholesterol	6-hydroxy-2,5,7,8-tetramethylchroman-2-carboxylic acid inhibits the reaction [Cholesterol analog results in increased expression of APAF1 mRNA]	19477266
D002784	Cholesterol	Acetylcysteine inhibits the reaction [Cholesterol analog results in increased expression of APAF1 mRNA]	19477266
D002784	Cholesterol	Cholesterol analog results in increased expression of APAF1 mRNA	19477266
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of APAF1 mRNA	20938992
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of APAF1 gene	20938992
D002927	Cimetidine	Cimetidine results in increased activity of APAF1 protein	17273750
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in increased expression of APAF1 mRNA	27392435
D002945	Cisplatin	Cisplatin results in increased expression of APAF1 mRNA	27392435
D002945	Cisplatin	[trichostatin A results in increased activity of APAF1 protein] which results in increased susceptibility to Cisplatin	20925046
D002945	Cisplatin	Cisplatin results in increased expression of APAF1 mRNA	20883750; 25270620;
C018021	cobaltous chloride	[cobaltous chloride co-treated with 3-(5'-hydroxymethyl-2'-furyl)-1-benzylindazole] results in increased expression of APAF1 mRNA	24265542
C018021	cobaltous chloride	cobaltous chloride results in increased expression of APAF1 mRNA	24265542
D003300	Copper	[[Ditiocarb binds to Copper] which affects the localization of CYCS protein] promotes the reaction [[[CYCS protein binds to APAF1 protein binds to CASP9 protein] which results in increased metabolism of and results in increased activity of CASP9 protein] which results in increased activity of CASP3 protein]	22951949
D003300	Copper	Copper analog results in decreased expression of APAF1 protein	21319953
D003300	Copper	Copper analog results in increased expression of APAF1 protein	22000994
D003300	Copper	Copper results in increased expression of APAF1 protein	30556269
D003474	Curcumin	Curcumin results in increased expression of APAF1 protein	17277231
D003474	Curcumin	Curcumin inhibits the reaction [Peroxynitrous Acid results in increased expression of APAF1 mRNA]	20869986
D003513	Cycloheximide	Cycloheximide results in decreased expression of APAF1 mRNA	19684285
D003513	Cycloheximide	[Tetrachlorodibenzodioxin co-treated with Cycloheximide] results in decreased expression of APAF1 mRNA	19684285
D003520	Cyclophosphamide	Cyclophosphamide results in decreased expression of APAF1 mRNA	29445054
C089595	cylindrospermopsin	cylindrospermopsin results in decreased expression of APAF1 mRNA	23726867
C017160	cypermethrin	cypermethrin results in increased expression of APAF1 mRNA	20965546; 21316461;
C017160	cypermethrin	cypermethrin results in increased expression of APAF1 mRNA	27704156
D000077209	Decitabine	Decitabine affects the expression of APAF1 mRNA	17133271
D000077209	Decitabine	Decitabine results in increased expression of APAF1 mRNA	15972851; 19662370;
D000077209	Decitabine	Decitabine results in increased expression of APAF1 protein	19662370
D000077209	Decitabine	TP53 protein affects the reaction [Decitabine affects the expression of APAF1 mRNA]	17133271
D000077209	Decitabine	Decitabine results in increased expression of APAF1 mRNA	27915011
D003976	Diazinon	Diazinon affects the expression of APAF1 mRNA	22546817
D003633	Dichlorodiphenyl Dichloroethylene	Dichlorodiphenyl Dichloroethylene results in increased expression of APAF1 mRNA	25410718
D004008	Diclofenac	Diclofenac affects the expression of APAF1 mRNA	24752500
D004026	Dieldrin	Dieldrin affects the expression of APAF1 mRNA	22546817
C007366	diepoxybutane	diepoxybutane results in increased expression of APAF1 mRNA	29792945
D004041	Dietary Fats	Dietary Fats results in decreased expression of APAF1 mRNA	18503570
D004041	Dietary Fats	[Fructose co-treated with Dietary Fats] results in increased expression of APAF1 mRNA	28916335
D004041	Dietary Fats	troxerutin inhibits the reaction [[Fructose co-treated with Dietary Fats] results in increased expression of APAF1 mRNA]	28916335
C014476	diethyl maleate	diethyl maleate results in increased expression of APAF1 mRNA	11875189
D004052	Diethylnitrosamine	AHR protein affects the reaction [Diethylnitrosamine affects the expression of APAF1 mRNA]	19996281
D004052	Diethylnitrosamine	AHR protein inhibits the reaction [Diethylnitrosamine results in decreased expression of APAF1 mRNA]	19996281
D004052	Diethylnitrosamine	Diethylnitrosamine affects the expression of APAF1 mRNA	19996281; 21159647;
D004052	Diethylnitrosamine	[3,4,5,4'-tetramethoxystilbene co-treated with Diethylnitrosamine co-treated with Phenobarbital] affects the expression of APAF1 mRNA	27048571
D004128	Dimethylnitrosamine	Dimethylnitrosamine results in increased expression of APAF1 mRNA	25380136
D004050	Ditiocarb	[[Ditiocarb binds to Copper] which affects the localization of CYCS protein] promotes the reaction [[[CYCS protein binds to APAF1 protein binds to CASP9 protein] which results in increased metabolism of and results in increased activity of CASP9 protein] which results in increased activity of CASP3 protein]	22951949
D004317	Doxorubicin	Doxorubicin results in increased expression of APAF1 mRNA	15939500; 16001973;
D004317	Doxorubicin	pluronic block copolymer p85 promotes the reaction [Doxorubicin results in increased expression of APAF1 mRNA]	15939500
D004317	Doxorubicin	Doxorubicin results in increased expression of APAF1 protein	22015447; 25169008;
D004317	Doxorubicin	Propofol inhibits the reaction [Doxorubicin results in increased expression of APAF1 protein]	22015447
D004365	Drugs, Chinese Herbal	Drugs, Chinese Herbal results in decreased expression of APAF1 mRNA	29667321
D004610	Ellagic Acid	Ellagic Acid results in decreased expression of APAF1 mRNA	12002526
D004726	Endosulfan	Endosulfan results in decreased expression of APAF1 mRNA	30090376
D004726	Endosulfan	Endosulfan results in decreased expression of APAF1 mRNA	29391264
D004811	Epichlorohydrin	Epichlorohydrin results in increased expression of APAF1 mRNA	29792945
C045651	epigallocatechin gallate	epigallocatechin gallate results in increased expression of APAF1 protein	15657356
D000069347	Erlotinib Hydrochloride	[Erlotinib Hydrochloride co-treated with Arsenic Trioxide] results in increased expression of APAF1 mRNA	29274334
D004958	Estradiol	Estradiol affects the expression of APAF1 mRNA	21826169
D004958	Estradiol	[Estradiol co-treated with EGF protein] results in decreased expression of APAF1 mRNA	24758408
D004958	Estradiol	Estradiol results in decreased expression of APAF1 mRNA	23373633
D000431	Ethanol	Ethanol results in increased expression of APAF1 mRNA	23273579
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of APAF1 mRNA	23129252
C002994	ethylene dimethanesulfonate	ethylene dimethanesulfonate results in increased expression of APAF1 mRNA	22711419
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in increased expression of APAF1 mRNA	23649840
D005047	Etoposide	Etoposide results in increased expression of APAF1 mRNA	25270620
D005054	Eugenol	Eugenol inhibits the reaction [Methylnitronitrosoguanidine results in decreased expression of APAF1 protein]	20434464
D017313	Fenretinide	Fenretinide results in increased expression of APAF1 mRNA	28973697
D005411	Flame Retardants	Flame Retardants results in increased expression of APAF1 mRNA	19356805
C043562	flavone	flavone results in increased expression of APAF1 protein	14750173
D005419	Flavonoids	Flavonoids results in increased expression of APAF1 mRNA	18035473
D005472	Fluorouracil	Fluorouracil results in increased expression of APAF1 mRNA	16557594
D005485	Flutamide	Flutamide results in decreased expression of APAF1 mRNA	24793618
C475882	flutolanil	flutolanil affects the expression of APAF1 mRNA	30942079
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of APAF1 mRNA	20938992
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of APAF1 gene	20938992
D005557	Formaldehyde	Formaldehyde results in increased expression of APAF1 mRNA	23649840
D005632	Fructose	[Fructose co-treated with Dietary Fats] results in increased expression of APAF1 mRNA	28916335
D005632	Fructose	troxerutin inhibits the reaction [[Fructose co-treated with Dietary Fats] results in increased expression of APAF1 mRNA]	28916335
C039281	furan	furan results in increased expression of APAF1 mRNA	22079235
D005665	Furosemide	Furosemide affects the expression of APAF1 mRNA	17497460
D019833	Genistein	Genistein results in increased expression of APAF1 mRNA	15256057
D019833	Genistein	Genistein results in increased expression of APAF1 mRNA	24967385
D005839	Gentamicins	Gentamicins results in increased expression of APAF1 mRNA	22061828
C007845	gingerol	gingerol results in increased expression of APAF1 mRNA	19481070
C007845	gingerol	gingerol results in increased expression of APAF1 protein	19481070
D005937	Glucaric Acid	[Butyric Acid co-treated with Niacinamide co-treated with Glucaric Acid] inhibits the reaction [9,10-Dimethyl-1,2-benzanthracene results in decreased expression of APAF1 mRNA]	25478867
D005937	Glucaric Acid	[Butyric Acid co-treated with Niacinamide co-treated with Glucaric Acid] inhibits the reaction [9,10-Dimethyl-1,2-benzanthracene results in decreased expression of APAF1 protein]	25478867
D005937	Glucaric Acid	Glucaric Acid inhibits the reaction [9,10-Dimethyl-1,2-benzanthracene results in decreased expression of APAF1 mRNA]	25478867
D005937	Glucaric Acid	Glucaric Acid inhibits the reaction [9,10-Dimethyl-1,2-benzanthracene results in decreased expression of APAF1 protein]	25478867
C010974	glyphosate	glyphosate results in decreased expression of APAF1 protein	24073338
D006046	Gold	[Polyethyleneimine binds to Gold] which results in decreased expression of APAF1 mRNA	28433809
D006046	Gold	[Quercetin analog co-treated with Gold analog] results in increased expression of APAF1 protein	27470402
C401311	GW 7845	APAF1 protein affects the susceptibility to GW 7845	17400580
C500810	GW8510	GW8510 results in increased expression of APAF1 mRNA	22242153
D006220	Haloperidol	Haloperidol results in increased expression of APAF1 mRNA	29458080
C539481	HCV 796	HCV 796 results in increased expression of APAF1 protein	19098685
C089796	hexabromocyclododecane	hexabromocyclododecane results in increased expression of APAF1 mRNA	19356805
D006861	Hydrogen Peroxide	Hydrogen Peroxide results in increased expression of APAF1 mRNA	26846883
D006918	Hydroxyurea	Hydroxyurea results in increased expression of APAF1 mRNA	27208086
C492448	ICG 001	ICG 001 results in decreased expression of APAF1 mRNA	26191083
C540383	INCB018424	[INCB018424 co-treated with Arsenic Trioxide] results in increased expression of APAF1 mRNA	30012499
C016517	indole-3-carbinol	indole-3-carbinol results in increased expression of APAF1 protein	29775573
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of APAF1 mRNA	25613284
D058085	Iron Compounds	Iron Compounds results in increased expression of APAF1 protein	28483490
D058085	Iron Compounds	L 709049 promotes the reaction [Iron Compounds results in increased expression of APAF1 protein]	28483490
D007530	Isoflurane	Isoflurane results in decreased expression of APAF1 mRNA	16978161
D007545	Isoproterenol	Isoproterenol results in increased expression of APAF1 mRNA	24286936
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in increased expression of APAF1 mRNA	27392435
C544151	jinfukang	jinfukang results in decreased expression of APAF1 mRNA	27392435
C561695	(+)-JQ1 compound	[(+)-JQ1 compound co-treated with Vemurafenib] results in decreased expression of APAF1 mRNA	27169980
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in increased expression of APAF1 mRNA	23430699
D007608	Kainic Acid	Kainic Acid results in increased expression of APAF1 mRNA	17997037
C410027	KNK 437	KNK 437 results in increased expression of APAF1 protein	19913524
C410027	KNK 437	Scorpion Venoms results in increased susceptibility to [KNK 437 results in increased expression of APAF1 protein]	19913524
C096429	L 709049	L 709049 promotes the reaction [Iron Compounds results in increased expression of APAF1 protein]	28483490
C096429	L 709049	L 709049 results in increased expression of APAF1 protein	28483490
C008261	lead acetate	lead acetate results in increased expression of APAF1 mRNA	20542052
C017461	lead nitrate	lead nitrate results in decreased expression of APAF1 protein	23451106
C017461	lead nitrate	mangiferin inhibits the reaction [lead nitrate results in decreased expression of APAF1 protein]	23451106
C038753	leptomycin B	[leptomycin B co-treated with TP53 gene mutant form] results in increased expression of APAF1 mRNA	20803015
D008044	Linuron	Linuron results in increased expression of APAF1 mRNA	28705778
C013099	mancozeb	mancozeb results in increased expression of APAF1 protein	22289270
C013592	mangiferin	mangiferin inhibits the reaction [lead nitrate results in decreased expression of APAF1 protein]	23451106
D000077485	Meglumine Antimoniate	Meglumine Antimoniate results in increased expression of APAF1 mRNA	30599190
D008555	Melitten	Melitten affects the reaction [TGFB1 protein affects the localization of APAF1 protein]	21871910
D008555	Melitten	Melitten inhibits the reaction [[IL6 protein co-treated with IL6R protein] results in increased expression of APAF1 protein]	21354845
D008610	Menthol	Menthol results in increased expression of APAF1 mRNA	26760959
D008687	Metformin	[Paclitaxel co-treated with Metformin] results in increased expression of APAF1 mRNA	29309887
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of APAF1 mRNA	20938992
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of APAF1 gene	20938992
D008727	Methotrexate	Methotrexate results in increased expression of APAF1 mRNA	21678067; 24449571;
D008748	Methylcholanthrene	Methylcholanthrene results in increased expression of APAF1 mRNA	23273579
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of APAF1 mRNA	28001369
D008767	Methylmercury Compounds	Methylmercury Compounds affects the expression of APAF1 mRNA	21664453
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of APAF1 mRNA	23649840
D008741	Methyl Methanesulfonate	APAF1 protein affects the susceptibility to Methyl Methanesulfonate	16019050
D008769	Methylnitronitrosoguanidine	APAF1 protein affects the susceptibility to Methylnitronitrosoguanidine	16019050
D008769	Methylnitronitrosoguanidine	Eugenol inhibits the reaction [Methylnitronitrosoguanidine results in decreased expression of APAF1 protein]	20434464
D008769	Methylnitronitrosoguanidine	Methylnitronitrosoguanidine results in decreased expression of APAF1 protein	20434464
D008770	Methylnitrosourea	Methylnitrosourea results in increased expression of APAF1 mRNA	25270620
D016685	Mitomycin	Mitomycin results in increased expression of APAF1 mRNA	25270620
C555916	MitoTEMPO	MitoTEMPO inhibits the reaction [Chlorpyrifos results in increased expression of APAF1 protein]	26435000
C000627226	momfluorothrin	momfluorothrin results in decreased expression of APAF1 mRNA	28520973
C008548	morin	morin results in increased expression of APAF1 mRNA	28689916
C500085	muraglitazar	muraglitazar results in decreased expression of APAF1 mRNA	21515302
D009151	Mustard Gas	Mustard Gas results in increased expression of APAF1 mRNA	15674843; 18955075;
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of APAF1 mRNA	15585362
C005273	naringenin	naringenin results in increased expression of APAF1 protein	27838343
C546012	N-(cyanomethyl)-4-(2-((4-(4-morpholinyl)phenyl)amino)-4-pyrimidinyl)benzamide	N-(cyanomethyl)-4-(2-((4-(4-morpholinyl)phenyl)amino)-4-pyrimidinyl)benzamide results in increased expression of APAF1 protein	27470402
D009355	Neomycin	Neomycin results in increased expression of APAF1 mRNA	29292089
D009355	Neomycin	peoniflorin inhibits the reaction [Neomycin results in increased expression of APAF1 mRNA]	29292089
D009536	Niacinamide	[Butyric Acid co-treated with Niacinamide co-treated with Glucaric Acid] inhibits the reaction [9,10-Dimethyl-1,2-benzanthracene results in decreased expression of APAF1 mRNA]	25478867
D009536	Niacinamide	[Butyric Acid co-treated with Niacinamide co-treated with Glucaric Acid] inhibits the reaction [9,10-Dimethyl-1,2-benzanthracene results in decreased expression of APAF1 protein]	25478867
D009536	Niacinamide	Niacinamide inhibits the reaction [9,10-Dimethyl-1,2-benzanthracene results in decreased expression of APAF1 mRNA]	25478867
D009536	Niacinamide	Niacinamide inhibits the reaction [9,10-Dimethyl-1,2-benzanthracene results in decreased expression of APAF1 protein]	25478867
D009532	Nickel	Nickel results in decreased expression of APAF1 mRNA	23195993
C042198	nimbolide	nimbolide results in increased expression of APAF1 protein	20429769
C064976	O(6)-benzylguanine	[O(6)-benzylguanine co-treated with O-(6)-methylguanine] results in decreased expression of APAF1 mRNA	29666243
C008449	O-(6)-methylguanine	[O(6)-benzylguanine co-treated with O-(6)-methylguanine] results in decreased expression of APAF1 mRNA	29666243
C025589	ochratoxin A	ochratoxin A results in decreased expression of APAF1 mRNA	17316727
C025589	ochratoxin A	ochratoxin A results in increased expression of APAF1 mRNA	19562491
C000594117	ON123300	ON123300 results in decreased expression of APAF1 mRNA	26873845
C016340	o,p'-DDT	o,p'-DDT analog results in decreased expression of APAF1 mRNA	22937105
D010100	Oxygen	Oxygen deficiency results in increased expression of APAF1 protein	21468576
D017239	Paclitaxel	[Paclitaxel co-treated with Metformin] results in increased expression of APAF1 mRNA	29309887
D017239	Paclitaxel	Paclitaxel results in increased expression of APAF1 protein	14749477
D017239	Paclitaxel	APAF1 protein affects the reaction [Paclitaxel results in increased activity of and results in increased cleavage of CASP3 protein]	17652622
D010269	Paraquat	Paraquat affects the splicing of APAF1 mRNA	23613995
D010269	Paraquat	Paraquat results in decreased expression of APAF1 mRNA	17064354
D010269	Paraquat	Paraquat results in increased expression of APAF1 mRNA alternative form	17064354
D010269	Paraquat	Paraquat affects the splicing of APAF1 exon	27111068
C546733	pekinenal	pekinenal results in increased expression of APAF1 protein	30710624
D010424	Pentobarbital	Pentobarbital results in decreased expression of APAF1 mRNA	16978161
C015423	peoniflorin	peoniflorin inhibits the reaction [Neomycin results in increased expression of APAF1 mRNA]	29292089
D030421	Peroxynitrous Acid	Curcumin inhibits the reaction [Peroxynitrous Acid results in increased expression of APAF1 mRNA]	20869986
D030421	Peroxynitrous Acid	Peroxynitrous Acid results in increased expression of APAF1 mRNA	20869986
C058305	phenethyl isothiocyanate	phenethyl isothiocyanate results in increased expression of APAF1 protein	16054126
D010634	Phenobarbital	Phenobarbital affects the expression of APAF1 mRNA	23091169
D010634	Phenobarbital	[3,4,5,4'-tetramethoxystilbene co-treated with Diethylnitrosamine co-treated with Phenobarbital] affects the expression of APAF1 mRNA	27048571
D010634	Phenobarbital	Phenobarbital results in increased expression of APAF1 mRNA	23273579
C121565	pifithrin	pifithrin results in increased expression of APAF1 protein	28483490
C006253	pirinixic acid	pirinixic acid results in decreased expression of APAF1 mRNA	17426115
D010936	Plant Extracts	Plant Extracts results in increased expression of APAF1 protein	26122529
D028321	Plant Preparations	Plant Preparations results in increased expression of APAF1 mRNA	24973489
C422648	pluronic block copolymer p85	pluronic block copolymer p85 promotes the reaction [Doxorubicin results in increased expression of APAF1 mRNA]	15939500
D011094	Polyethyleneimine	[Polyethyleneimine binds to Gold] which results in decreased expression of APAF1 mRNA	28433809
C060540	polyhexamethyleneguanidine	polyhexamethyleneguanidine results in increased expression of APAF1 protein	29309811
D000077182	Polylactic Acid-Polyglycolic Acid Copolymer	[Polylactic Acid-Polyglycolic Acid Copolymer co-treated with Apigenin] results in increased expression of APAF1 protein	24070738
D015742	Propofol	Propofol inhibits the reaction [Doxorubicin results in increased expression of APAF1 protein]	22015447
D015742	Propofol	Propofol results in decreased expression of APAF1 protein	21468576
C006068	propylparaben	propylparaben results in increased expression of APAF1 mRNA	24481588
D011441	Propylthiouracil	Propylthiouracil results in increased expression of APAF1 mRNA	24780913
C009131	pyrimidin-2-one beta-ribofuranoside	pyrimidin-2-one beta-ribofuranoside affects the expression of APAF1 mRNA	17133271
D011794	Quercetin	[Quercetin analog co-treated with Gold analog] results in increased expression of APAF1 protein	27470402
D011794	Quercetin	Quercetin results in decreased expression of APAF1 mRNA	15309432
D011794	Quercetin	Quercetin results in increased expression of APAF1 protein	14750173; 30152185;
D011794	Quercetin	Quercetin inhibits the reaction [9,10-Dimethyl-1,2-benzanthracene results in decreased expression of APAF1 mRNA]	21294050
D011794	Quercetin	Quercetin inhibits the reaction [9,10-Dimethyl-1,2-benzanthracene results in decreased expression of APAF1 protein]	21294050
D000077185	Resveratrol	Resveratrol results in decreased expression of APAF1 mRNA	12002526
D000077185	Resveratrol	Resveratrol results in decreased expression of APAF1 protein	14749477
D000077185	Resveratrol	Resveratrol results in increased expression of APAF1 mRNA	12569576
D000077185	Resveratrol	Resveratrol inhibits the reaction [9,10-Dimethyl-1,2-benzanthracene results in decreased expression of APAF1 protein]	18791811
D000077185	Resveratrol	Resveratrol results in increased expression of APAF1 protein	18201729
D000077154	Rosiglitazone	Rosiglitazone results in decreased expression of APAF1 mRNA	17639046
D000077154	Rosiglitazone	Rosiglitazone results in decreased expression of APAF1 mRNA	21515302
D012402	Rotenone	Rotenone results in increased expression of APAF1 mRNA alternative form	17064354
C039961	S-(1,2-dichlorovinyl)cysteine	S-(1,2-dichlorovinyl)cysteine results in increased expression of APAF1 protein	15967204
C513635	S-2-pentyl-4-pentynoic hydroxamic acid	S-2-pentyl-4-pentynoic hydroxamic acid results in decreased expression of APAF1 mRNA	21427059
D012451	Safrole	Safrole results in increased expression of APAF1 protein	21591240
C018381	salvin	salvin inhibits the reaction [sodium arsenite results in increased expression of APAF1 protein]	29854073
D012604	Scorpion Venoms	Scorpion Venoms results in increased expression of APAF1 protein	19913524
D012604	Scorpion Venoms	Scorpion Venoms results in increased susceptibility to [KNK 437 results in increased expression of APAF1 protein]	19913524
D012604	Scorpion Venoms	Scorpion Venoms results in increased susceptibility to [tanespimycin results in increased expression of APAF1 protein]	19913524
C002979	selenomethylselenocysteine	selenomethylselenocysteine metabolite results in increased expression of APAF1 mRNA	25321483
D018030	Silver Compounds	[ERCC4 gene mutant form results in increased susceptibility to Silver Compounds] which results in increased expression of APAF1 mRNA	29462690
C017947	sodium arsenite	sodium arsenite results in increased expression of APAF1 mRNA	29361514
C017947	sodium arsenite	salvin inhibits the reaction [sodium arsenite results in increased expression of APAF1 protein]	29854073
C017947	sodium arsenite	sodium arsenite results in increased expression of APAF1 protein	29854073
C017947	sodium arsenite	sodium arsenite results in increased expression of APAF1 protein	20830294
C017947	sodium arsenite	Taurine inhibits the reaction [sodium arsenite results in increased expression of APAF1 protein]	20830294
C016104	sodium bichromate	[Benzo(a)pyrene co-treated with sodium bichromate] results in increased expression of APAF1 mRNA	22613061
D012969	Sodium Fluoride	Sodium Fluoride results in increased expression of APAF1 mRNA	30225638
D053260	Soot	Soot analog results in increased expression of APAF1 protein	30240709
C112765	tanespimycin	Scorpion Venoms results in increased susceptibility to [tanespimycin results in increased expression of APAF1 protein]	19913524
C112765	tanespimycin	tanespimycin results in increased expression of APAF1 protein	19913524
D013654	Taurine	Taurine inhibits the reaction [Alloxan results in increased expression of APAF1 protein]	23092809
D013654	Taurine	Taurine inhibits the reaction [sodium arsenite results in increased expression of APAF1 protein]	20830294
C031655	tauroursodeoxycholic acid	tauroursodeoxycholic acid affects the expression of APAF1 mRNA	15885361
C031655	tauroursodeoxycholic acid	tauroursodeoxycholic acid affects the expression of APAF1 protein	15885361
C031655	tauroursodeoxycholic acid	tauroursodeoxycholic acid results in decreased expression of APAF1 mRNA	15885361
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in increased expression of APAF1 protein	17419000
D020122	tert-Butylhydroperoxide	Acetylcysteine inhibits the reaction [tert-Butylhydroperoxide results in increased expression of APAF1 protein]	15877105
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in increased expression of APAF1 protein	15877105
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Cycloheximide] results in decreased expression of APAF1 mRNA	19684285
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of APAF1 mRNA	19684285
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of APAF1 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of APAF1 mRNA	23864506
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of APAF1 mRNA	19520675
D013755	Tetradecanoylphorbol Acetate	Tetradecanoylphorbol Acetate affects the expression of APAF1 protein	11139146
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of APAF1 mRNA	25613284
C026995	thallium acetate	thallium acetate results in increased expression of APAF1 protein	15965099
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of APAF1 protein	30579903
D019772	Topotecan	APAF1 promotes the reaction [Topotecan results in increased cleavage of BID protein]	19812371
D019772	Topotecan	APAF1 promotes the reaction [Topotecan results in increased cleavage of CASP2 protein]	19812371
D019772	Topotecan	APAF1 promotes the reaction [Topotecan results in increased cleavage of CASP3 protein]	19812371
D019772	Topotecan	APAF1 promotes the reaction [Topotecan results in increased cleavage of CASP9 protein]	19812371
D019772	Topotecan	APAF1 promotes the reaction [Topotecan results in increased degradation of BCL2L1 protein]	19812371
D019772	Topotecan	APAF1 promotes the reaction [Topotecan results in increased phosphorylation of H2AX protein]	19812371
D014241	Trichloroethylene	Trichloroethylene results in increased methylation of APAF1 gene	27618143
C012589	trichostatin A	trichostatin A results in increased activity of APAF1 protein	20925046
C012589	trichostatin A	[trichostatin A results in increased activity of APAF1 protein] which results in increased susceptibility to Cisplatin	20925046
C001899	triptolide	triptolide results in increased expression of APAF1 protein	25169008; 26990902;
C001899	triptolide	NFE2L2 protein inhibits the reaction [triptolide results in increased expression of APAF1 protein]	25169008
C001899	triptolide	triptolide results in increased expression of APAF1 protein	25169008
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of APAF1 mRNA	26179874
D000077288	Troglitazone	Troglitazone results in decreased expression of APAF1 mRNA	21515302
C005865	troxerutin	troxerutin inhibits the reaction [[Fructose co-treated with Dietary Fats] results in increased expression of APAF1 mRNA]	28916335
D014520	Urethane	Urethane results in increased expression of APAF1 mRNA	28818685
D014580	Ursodeoxycholic Acid	Ursodeoxycholic Acid results in decreased expression of APAF1 mRNA	15885361
D014580	Ursodeoxycholic Acid	Ursodeoxycholic Acid results in decreased expression of APAF1 protein	15885361
D014635	Valproic Acid	Valproic Acid results in increased expression of APAF1 mRNA	24935251
D000077484	Vemurafenib	[(+)-JQ1 compound co-treated with Vemurafenib] results in decreased expression of APAF1 mRNA	27169980
C025643	vinclozolin	vinclozolin results in decreased expression of APAF1 mRNA	23869203
C029297	vinylidene chloride	vinylidene chloride results in increased expression of APAF1 mRNA	26682919
C070417	Win 55212-2	Win 55212-2 results in decreased expression of APAF1 protein	30776504
D015034	Zinc Oxide	Zinc Oxide affects the expression of APAF1 mRNA	28648595
D015034	Zinc Oxide	Zinc Oxide affects the splicing of and results in increased expression of APAF1 mRNA	30500950
D000077211	Zoledronic Acid	Zoledronic Acid results in increased expression of APAF1 mRNA	28871336

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0053	Apoptosis
KW-0067	ATP-binding
KW-0106	Calcium
KW-0963	Cytoplasm
KW-0903	Direct protein sequencing
KW-0547	Nucleotide-binding
KW-1185	Reference proteome
KW-0677	Repeat
KW-0853	WD repeat

Interpro

InterPro ID	InterPro Term
IPR017251	Apaf-1
IPR041452	APAF1_C
IPR037963	APAF1_CARD_dom
IPR001315	CARD
IPR011029	DEATH-like_dom_sf
IPR020472	G-protein_beta_WD-40_rep
IPR002182	NB-ARC
IPR027417	P-loop_NTPase
IPR015943	WD40/YVTN_repeat-like_dom_sf
IPR001680	WD40_repeat
IPR019775	WD40_repeat_CS
IPR017986	WD40_repeat_dom
IPR036322	WD40_repeat_dom_sf
IPR036388	WH-like_DNA-bd_sf

PROSITE

PROSITE ID	PROSITE Term
PS50209	CARD
PS00678	WD_REPEATS_1
PS50082	WD_REPEATS_2
PS50294	WD_REPEATS_REGION

Pfam

Pfam ID	Pfam Term
PF17908	APAF1_C
PF00619	CARD
PF00931	NB-ARC
PF00400	WD40

Gene: APAF1

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