CleftGeneDB-Search

Gene: FIGN

Basic information

Tag	Content
Uniprot ID	Q5HY92; B3KWM0; Q9H6M5; Q9NVZ9;
Entrez ID	55137
Genbank protein ID	BAA91590.1; AAX81992.1; CAI45980.1; BAB15231.1; BAG54182.1;
Genbank nucleotide ID	NM_018086.3
Ensembl protein ID	ENSP00000333836
Ensembl nucleotide ID	ENSG00000182263
Gene name	Fidgetin
Gene symbol	FIGN
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	ATP-dependent microtubule severing protein. Severs microtubules along their length and depolymerizes their ends, primarily the minus-end, that may lead to the suppression of microtubule growth from and attachment to centrosomes. Microtubule severing may promote rapid reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. Microtubule release from the mitotic spindle poles may allow depolymerization of the microtubule end proximal to the spindle pole, leading to poleward microtubule flux and poleward motion of chromosome.
Sequence	MISSTSVYGL KMQWTPEHAQ WPEQHFDITS TTRSPAHKVE AYRGHLQRTY QYAWANDDIS 60 ALTASNLLKK YAEKYSGILE GPVDRPVLSN YSDTPSGLVN GRKNESEPWQ PSLNSEAVYP 120 MNCVPDVITA SKAGVSSALP PADVSASIGS SPGVASNLTE PSYSSSTCGS HTVPSLHAGL 180 PSQEYAPGYN GSYLHSTYSS QPAPALPSPH PSPLHSSGLL QPPPPPPPPP ALVPGYNGTS 240 NLSSYSYPSA SYPPQTAVGS GYSPGGAPPP PSAYLPSGIP APTPLPPTTV PGYTYQGHGL 300 TPIAPSALTN SSASSLKRKA FYMAGQGDMD SSYGNYSYGQ QRSTQSPMYR MPDNSISNTN 360 RGNGFDRSAE TSSLAFKPTK QLMSSEQQRK FSSQSSRALT PPSYSTAKNS LGSRSSESFG 420 KYTSPVMSEH GDEHRQLLSH PMQGPGLRAA TSSNHSVDEQ LKNTDTHLID LVTNEIITQG 480 PPVDWNDIAG LDLVKAVIKE EVLWPVLRSD AFSGLTALPR SILLFGPRGT GKTLLGRCIA 540 SQLGATFFKI AGSGLVAKWL GEAEKIIHAS FLVARCRQPS VIFVSDIDML LSSQVNEEHS 600 PVSRMRTEFL MQLDTVLTSA EDQIVVICAT SKPEEIDESL RRYFMKRLLI PLPDSTARHQ 660 IIVQLLSQHN YCLNDKEFAL LVQRTEGFSG LDVAHLCQEA VVGPLHAMPA TDLSAIMPSQ 720 LRPVTYQDFE NAFCKIQPSI SQKELDMYVE WNKMFGCSQ 759

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

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	FIGN	102182074	A0A452F2S0		Capra hircus	Prediction	More>>
1:1 ortholog	FIGN	55137	Q5HY92		Homo sapiens	Prediction	More>>
1:1 ortholog	Fign	60344	Q9ERZ6	CPO	Mus musculus	Publication	More>>
1:1 ortholog	FIGN	470574	A0A2I3SNC4		Pan troglodytes	Prediction	More>>
1:1 ortholog	FIGN		A0A286ZU82		Sus scrofa	Prediction	More>>
1:1 ortholog	FIGN	100346621	A0A5F9C299		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Fign	295649	D3ZYS4		Rattus norvegicus	Prediction	More>>
1:1 ortholog	fign		F1QMW5		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs372786690	p.Ser3Arg	missense variant	-	NC_000002.12:g.163734921T>G	ESP,ExAC,TOPMed,gnomAD
rs1326974767	p.Thr5Ala	missense variant	-	NC_000002.12:g.163734915T>C	TOPMed
NCI-TCGA novel	p.Ser6ValPheSerTerUnk	frameshift	-	NC_000002.12:g.163734912T>-	NCI-TCGA
COSM717162	p.Val7Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163734908A>G	NCI-TCGA Cosmic
rs752565413	p.Gly9Ala	missense variant	-	NC_000002.12:g.163611806C>G	ExAC,gnomAD
rs755993016	p.Gly9Ser	missense variant	-	NC_000002.12:g.163734903C>T	ExAC,gnomAD
rs752565413	p.Gly9Asp	missense variant	-	NC_000002.12:g.163611806C>T	ExAC,gnomAD
COSM6154544	p.Leu10Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163611802C>G	NCI-TCGA Cosmic
rs1456617853	p.Lys11Arg	missense variant	-	NC_000002.12:g.163611800T>C	TOPMed
rs199883388	p.Thr15Met	missense variant	-	NC_000002.12:g.163611788G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1256558799	p.Pro16Arg	missense variant	-	NC_000002.12:g.163611785G>C	TOPMed,gnomAD
rs1242702029	p.Pro16Ser	missense variant	-	NC_000002.12:g.163611786G>A	gnomAD
NCI-TCGA novel	p.Glu17Asp	missense variant	-	NC_000002.12:g.163611781C>A	NCI-TCGA
COSM1482099	p.Ala19Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163611777C>A	NCI-TCGA Cosmic
rs766019629	p.Ala19Val	missense variant	-	NC_000002.12:g.163611776G>A	ExAC,TOPMed,gnomAD
rs766019629	p.Ala19Gly	missense variant	-	NC_000002.12:g.163611776G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln20His	missense variant	-	NC_000002.12:g.163611772C>G	NCI-TCGA
rs1438042391	p.Pro22Leu	missense variant	-	NC_000002.12:g.163611767G>A	TOPMed
rs1347756778	p.Pro22Ser	missense variant	-	NC_000002.12:g.163611768G>A	TOPMed
NCI-TCGA novel	p.His25Tyr	missense variant	-	NC_000002.12:g.163611759G>A	NCI-TCGA
rs762510306	p.Phe26Tyr	missense variant	-	NC_000002.12:g.163611755A>T	ExAC,gnomAD
rs772541947	p.Asp27Asn	missense variant	-	NC_000002.12:g.163611753C>T	ExAC,TOPMed,gnomAD
rs1261351047	p.Thr32Ala	missense variant	-	NC_000002.12:g.163611738T>C	gnomAD
COSM4922721	p.Arg33Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163611734C>G	NCI-TCGA Cosmic
rs765780931	p.Arg33Leu	missense variant	-	NC_000002.12:g.163611734C>A	ExAC,gnomAD
rs1389572507	p.Pro35Ala	missense variant	-	NC_000002.12:g.163611729G>C	gnomAD
rs1160890780	p.Pro35Leu	missense variant	-	NC_000002.12:g.163611728G>A	gnomAD
COSM1325817	p.Ala36Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163611725G>T	NCI-TCGA Cosmic
rs777077620	p.Ala36Thr	missense variant	-	NC_000002.12:g.163611726C>T	ExAC,gnomAD
rs1449445962	p.Val39Asp	missense variant	-	NC_000002.12:g.163611716A>T	gnomAD
NCI-TCGA novel	p.Val39Phe	missense variant	-	NC_000002.12:g.163611717C>A	NCI-TCGA
rs957909505	p.Tyr42Cys	missense variant	-	NC_000002.12:g.163611707T>C	-
rs775910769	p.Arg43Lys	missense variant	-	NC_000002.12:g.163611704C>T	ExAC,gnomAD
rs745962085	p.Gly44Asp	missense variant	-	NC_000002.12:g.163611701C>T	ExAC,TOPMed,gnomAD
rs1329931286	p.Gly44Ser	missense variant	-	NC_000002.12:g.163611702C>T	gnomAD
rs778814837	p.His45Asp	missense variant	-	NC_000002.12:g.163611699G>C	ExAC,gnomAD
rs756095635	p.Arg48Cys	missense variant	-	NC_000002.12:g.163611690G>A	ExAC,gnomAD
rs748081011	p.Arg48His	missense variant	-	NC_000002.12:g.163611689C>T	ExAC,TOPMed,gnomAD
rs756095635	p.Arg48Ser	missense variant	-	NC_000002.12:g.163611690G>T	ExAC,gnomAD
rs777998583	p.Thr49Pro	missense variant	-	NC_000002.12:g.163611687T>G	ExAC,TOPMed,gnomAD
rs777998583	p.Thr49Ala	missense variant	-	NC_000002.12:g.163611687T>C	ExAC,TOPMed,gnomAD
rs1299465429	p.Tyr50Cys	missense variant	-	NC_000002.12:g.163611683T>C	gnomAD
NCI-TCGA novel	p.Tyr50His	missense variant	-	NC_000002.12:g.163611684A>G	NCI-TCGA
rs1223928926	p.Gln51Arg	missense variant	-	NC_000002.12:g.163611680T>C	TOPMed
COSM717164	p.Ile59Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163611657T>C	NCI-TCGA Cosmic
COSM4824427	p.Ser60Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163611653G>A	NCI-TCGA Cosmic
rs757924225	p.Ser60Thr	missense variant	-	NC_000002.12:g.163611654A>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala61Thr	missense variant	-	NC_000002.12:g.163611651C>T	NCI-TCGA
rs761363659	p.Lys69Arg	missense variant	-	NC_000002.12:g.163611626T>C	ExAC,gnomAD
rs749851531	p.Lys70AsnPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.163611622T>-	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Tyr71IlePheSerTerUnkUnk	frameshift	-	NC_000002.12:g.163611621_163611622insT	NCI-TCGA
NCI-TCGA novel	p.Glu73Gly	missense variant	-	NC_000002.12:g.163611614T>C	NCI-TCGA
COSM1252449	p.Lys74Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163611611T>G	NCI-TCGA Cosmic
COSM6088145	p.Tyr75Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.163611607A>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser76Pro	missense variant	-	NC_000002.12:g.163611606A>G	NCI-TCGA
rs1196985033	p.Gly77Ala	missense variant	-	NC_000002.12:g.163611602C>G	gnomAD
rs761133484	p.Ile78Val	missense variant	-	NC_000002.12:g.163611600T>C	ExAC,gnomAD
rs1472836615	p.Leu79Ser	missense variant	-	NC_000002.12:g.163611596A>G	TOPMed
rs772452986	p.Glu80Lys	missense variant	-	NC_000002.12:g.163611594C>T	ExAC,gnomAD
rs375406052	p.Glu80Asp	missense variant	-	NC_000002.12:g.163611592T>G	gnomAD
rs368385434	p.Pro82Ser	missense variant	-	NC_000002.12:g.163611588G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp84Asn	missense variant	-	NC_000002.12:g.163611582C>T	NCI-TCGA
rs568198210	p.Arg85Ter	stop gained	-	NC_000002.12:g.163611579G>A	1000Genomes,ExAC,gnomAD
rs749385890	p.Pro86Ser	missense variant	-	NC_000002.12:g.163611576G>A	ExAC,gnomAD
rs1335503612	p.Pro86Leu	missense variant	-	NC_000002.12:g.163611575G>A	gnomAD
rs781168253	p.Val87Ile	missense variant	-	NC_000002.12:g.163611573C>T	ExAC,TOPMed,gnomAD
rs1323683739	p.Val87Ala	missense variant	-	NC_000002.12:g.163611572A>G	TOPMed
rs768525808	p.Ser89Gly	missense variant	-	NC_000002.12:g.163611567T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser89Arg	missense variant	-	NC_000002.12:g.163611565G>C	NCI-TCGA
COSM5860400	p.Ser92Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163611557G>A	NCI-TCGA Cosmic
rs1331398269	p.Ser92Pro	missense variant	-	NC_000002.12:g.163611558A>G	gnomAD
rs1032104388	p.Val99Ala	missense variant	-	NC_000002.12:g.163611536A>G	TOPMed
rs372470274	p.Gly101Asp	missense variant	-	NC_000002.12:g.163611530C>T	ESP,TOPMed
rs1306783524	p.Gly101Ser	missense variant	-	NC_000002.12:g.163611531C>T	TOPMed
rs778596686	p.Arg102Gln	missense variant	-	NC_000002.12:g.163611527C>T	ExAC,TOPMed,gnomAD
rs367851778	p.Glu105Gln	missense variant	-	NC_000002.12:g.163611519C>G	ESP,ExAC,TOPMed,gnomAD
COSM717165	p.Glu107Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163611513C>T	NCI-TCGA Cosmic
rs976658829	p.Glu107Gln	missense variant	-	NC_000002.12:g.163611513C>G	gnomAD
rs753130928	p.Pro108Leu	missense variant	-	NC_000002.12:g.163611509G>A	ExAC,gnomAD
rs753130928	p.Pro108His	missense variant	-	NC_000002.12:g.163611509G>T	ExAC,gnomAD
rs1254127961	p.Ser112Ala	missense variant	-	NC_000002.12:g.163611498A>C	gnomAD
rs1230197100	p.Ser115Pro	missense variant	-	NC_000002.12:g.163611489A>G	TOPMed
rs528157365	p.Ala117Thr	missense variant	-	NC_000002.12:g.163611483C>T	1000Genomes,ExAC,gnomAD
rs762958449	p.Val118Phe	missense variant	-	NC_000002.12:g.163611480C>A	ExAC,TOPMed,gnomAD
rs762958449	p.Val118Ile	missense variant	-	NC_000002.12:g.163611480C>T	ExAC,TOPMed,gnomAD
rs773212800	p.Tyr119Cys	missense variant	-	NC_000002.12:g.163611476T>C	ExAC,gnomAD
rs1203089862	p.Pro120Leu	missense variant	-	NC_000002.12:g.163611473G>A	TOPMed
rs768613569	p.Pro120Ala	missense variant	-	NC_000002.12:g.163611474G>C	ExAC,gnomAD
rs1351764932	p.Met121Ile	missense variant	-	NC_000002.12:g.163611469C>G	gnomAD
rs565712188	p.Met121Val	missense variant	-	NC_000002.12:g.163611471T>C	1000Genomes,TOPMed,gnomAD
rs1443543534	p.Cys123Tyr	missense variant	-	NC_000002.12:g.163611464C>T	gnomAD
rs746901180	p.Val124Ala	missense variant	-	NC_000002.12:g.163611461A>G	ExAC,gnomAD
rs375294645	p.Pro125Leu	missense variant	-	NC_000002.12:g.163611458G>A	ESP,ExAC,TOPMed,gnomAD
rs1416543400	p.Pro125Thr	missense variant	-	NC_000002.12:g.163611459G>T	gnomAD
rs201440665	p.Asp126Asn	missense variant	-	NC_000002.12:g.163611456C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM1129529	p.Ala133Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163611435C>T	NCI-TCGA Cosmic
rs778442875	p.Ala133Val	missense variant	-	NC_000002.12:g.163611434G>A	ExAC,TOPMed,gnomAD
rs778442875	p.Ala133Gly	missense variant	-	NC_000002.12:g.163611434G>C	ExAC,TOPMed,gnomAD
rs756865194	p.Gly134Arg	missense variant	-	NC_000002.12:g.163611432C>T	ExAC
NCI-TCGA novel	p.Gly134Ala	missense variant	-	NC_000002.12:g.163611431C>G	NCI-TCGA
rs141648291	p.Ser136Ile	missense variant	-	NC_000002.12:g.163611425C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748837717	p.Ser136Arg	missense variant	-	NC_000002.12:g.163611426T>G	ExAC,TOPMed,gnomAD
rs980460477	p.Ala138Pro	missense variant	-	NC_000002.12:g.163611420C>G	gnomAD
rs1461625173	p.Ala138Asp	missense variant	-	NC_000002.12:g.163611419G>T	gnomAD
NCI-TCGA novel	p.Leu139Ile	missense variant	-	NC_000002.12:g.163611417G>T	NCI-TCGA
rs1241605859	p.Pro141Ser	missense variant	-	NC_000002.12:g.163611411G>A	TOPMed,gnomAD
rs755660389	p.Asp143Glu	missense variant	-	NC_000002.12:g.163611403A>T	ExAC,gnomAD
rs753292312	p.Ala146Glu	missense variant	-	NC_000002.12:g.163611395G>T	ExAC,gnomAD
rs1330844203	p.Ser147Arg	missense variant	-	NC_000002.12:g.163611391A>T	gnomAD
rs755359335	p.Ile148Thr	missense variant	-	NC_000002.12:g.163611389A>G	ExAC,TOPMed,gnomAD
rs768060260	p.Ile148Val	missense variant	-	NC_000002.12:g.163611390T>C	ExAC,TOPMed,gnomAD
COSM1008430	p.Ser150Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163611384T>G	NCI-TCGA Cosmic
rs1379021560	p.Ser150Asn	missense variant	-	NC_000002.12:g.163611383C>T	gnomAD
rs900271392	p.Pro152Ser	missense variant	-	NC_000002.12:g.163611378G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Pro152Ala	missense variant	-	NC_000002.12:g.163611378G>C	NCI-TCGA
NCI-TCGA novel	p.Pro152Leu	missense variant	-	NC_000002.12:g.163611377G>A	NCI-TCGA
rs970392597	p.Gly153Val	missense variant	-	NC_000002.12:g.163611374C>A	TOPMed
rs1455092653	p.Val154Leu	missense variant	-	NC_000002.12:g.163611372C>A	gnomAD
rs1203928248	p.Ser156Asn	missense variant	-	NC_000002.12:g.163611365C>T	gnomAD
rs766516138	p.Thr159Ala	missense variant	-	NC_000002.12:g.163611357T>C	ExAC,TOPMed,gnomAD
rs763125224	p.Thr159Ile	missense variant	-	NC_000002.12:g.163611356G>A	ExAC,gnomAD
COSM281165	p.Glu160Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.163611354C>A	NCI-TCGA Cosmic
rs773303139	p.Ser162Asn	missense variant	-	NC_000002.12:g.163611347C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser162Ile	missense variant	-	NC_000002.12:g.163611347C>A	NCI-TCGA
rs1411478371	p.Ser164Leu	missense variant	-	NC_000002.12:g.163611341G>A	gnomAD
NCI-TCGA novel	p.Ser165Asn	missense variant	-	NC_000002.12:g.163611338C>T	NCI-TCGA
rs775473694	p.Ser166Asn	missense variant	-	NC_000002.12:g.163611335C>T	ExAC,TOPMed,gnomAD
rs745655105	p.Thr167Pro	missense variant	-	NC_000002.12:g.163611333T>G	ExAC,gnomAD
rs774154423	p.Thr167Ser	missense variant	-	NC_000002.12:g.163611332G>C	ExAC,gnomAD
rs745655105	p.Thr167Ala	missense variant	-	NC_000002.12:g.163611333T>C	ExAC,gnomAD
rs564615111	p.Gly169Glu	missense variant	-	NC_000002.12:g.163611326C>T	1000Genomes,ExAC,gnomAD
rs371190367	p.Ser170Asn	missense variant	-	NC_000002.12:g.163611323C>T	ESP,ExAC,gnomAD
rs777532928	p.Thr172Pro	missense variant	-	NC_000002.12:g.163611318T>G	ExAC,TOPMed,gnomAD
rs777532928	p.Thr172Ser	missense variant	-	NC_000002.12:g.163611318T>A	ExAC,TOPMed,gnomAD
rs1199742098	p.Val173Ile	missense variant	-	NC_000002.12:g.163611315C>T	TOPMed
rs747652183	p.Ser175Asn	missense variant	-	NC_000002.12:g.163611308C>T	ExAC,gnomAD
rs747652183	p.Ser175Thr	missense variant	-	NC_000002.12:g.163611308C>G	ExAC,gnomAD
COSM1752079	p.Leu176Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163611306G>A	NCI-TCGA Cosmic
rs1443984992	p.Pro181Ser	missense variant	-	NC_000002.12:g.163611291G>A	TOPMed
rs1187994920	p.Gln183Lys	missense variant	-	NC_000002.12:g.163611285G>T	TOPMed
NCI-TCGA novel	p.Gln183Glu	missense variant	-	NC_000002.12:g.163611285G>C	NCI-TCGA
rs1048552167	p.Ala186Thr	missense variant	-	NC_000002.12:g.163611276C>T	TOPMed,gnomAD
rs1433371240	p.Tyr189Cys	missense variant	-	NC_000002.12:g.163611266T>C	gnomAD
rs1024539546	p.Gly191Arg	missense variant	-	NC_000002.12:g.163611261C>T	TOPMed
rs1289698092	p.Gly191Glu	missense variant	-	NC_000002.12:g.163611260C>T	gnomAD
NCI-TCGA novel	p.Gly191AspPheSerTerUnkUnkUnk	frameshift	-	NC_000002.12:g.163611260C>-	NCI-TCGA
rs1172443343	p.Leu194Phe	missense variant	-	NC_000002.12:g.163611250C>A	TOPMed
rs758742525	p.His195Arg	missense variant	-	NC_000002.12:g.163611248T>C	ExAC,gnomAD
rs750684189	p.Ser196Pro	missense variant	-	NC_000002.12:g.163611246A>G	ExAC
rs373041263	p.Tyr198Cys	missense variant	-	NC_000002.12:g.163611239T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln201His	missense variant	-	NC_000002.12:g.163611229C>G	NCI-TCGA
rs918811302	p.Ala203Val	missense variant	-	NC_000002.12:g.163611224G>A	TOPMed
rs767385435	p.Ala205Val	missense variant	-	NC_000002.12:g.163611218G>A	ExAC
rs982133905	p.Pro209Ser	missense variant	-	NC_000002.12:g.163611207G>A	TOPMed
rs199566193	p.Pro211Ser	missense variant	-	NC_000002.12:g.163611201G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs770886664	p.Pro211Leu	missense variant	-	NC_000002.12:g.163611200G>A	ExAC,TOPMed,gnomAD
rs1232608017	p.Pro213Leu	missense variant	-	NC_000002.12:g.163611194G>A	TOPMed
rs1247947406	p.Leu214Trp	missense variant	-	NC_000002.12:g.163611191A>C	gnomAD
COSM1008428	p.His215Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163611189G>A	NCI-TCGA Cosmic
COSM4919983	p.His215Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163611188T>C	NCI-TCGA Cosmic
rs1360727143	p.Gly218Glu	missense variant	-	NC_000002.12:g.163611179C>T	gnomAD
rs769516578	p.Gly218Arg	missense variant	-	NC_000002.12:g.163611180C>T	ExAC,gnomAD
rs769068467	p.Pro222Ser	missense variant	-	NC_000002.12:g.163611168G>A	ExAC,gnomAD
rs780396169	p.Pro223Ser	missense variant	-	NC_000002.12:g.163611165G>A	ExAC,TOPMed,gnomAD
rs1248118142	p.Pro224Ser	missense variant	-	NC_000002.12:g.163611162G>A	TOPMed
rs1304959170	p.Pro224Arg	missense variant	-	NC_000002.12:g.163611161G>C	gnomAD
NCI-TCGA novel	p.Pro224HisPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.163611163T>-	NCI-TCGA
rs1405642810	p.Pro228Ser	missense variant	-	NC_000002.12:g.163611150G>A	gnomAD
rs750774041	p.Pro228Leu	missense variant	-	NC_000002.12:g.163611149G>A	ExAC,TOPMed,gnomAD
COSM6088146	p.Pro229Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163611147G>A	NCI-TCGA Cosmic
rs1373417566	p.Pro234Arg	missense variant	-	NC_000002.12:g.163611131G>C	gnomAD
rs764281031	p.Gly235Ser	missense variant	-	NC_000002.12:g.163611129C>T	ExAC,gnomAD
rs1199452359	p.Tyr236Cys	missense variant	-	NC_000002.12:g.163611125T>C	TOPMed,gnomAD
rs1482458674	p.Asn237His	missense variant	-	NC_000002.12:g.163611123T>G	gnomAD
rs751576888	p.Asn237Ser	missense variant	-	NC_000002.12:g.163611122T>C	ExAC,TOPMed,gnomAD
COSM1008427	p.Ser240Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163611113G>A	NCI-TCGA Cosmic
rs1481938625	p.Asn241Lys	missense variant	-	NC_000002.12:g.163611109G>T	gnomAD
rs1422579720	p.Asn241Ser	missense variant	-	NC_000002.12:g.163611110T>C	gnomAD
rs1203598241	p.Asn241Asp	missense variant	-	NC_000002.12:g.163611111T>C	gnomAD
NCI-TCGA novel	p.Ser244Arg	missense variant	-	NC_000002.12:g.163611100A>C	NCI-TCGA
NCI-TCGA novel	p.Ser244Arg	missense variant	-	NC_000002.12:g.163611102T>G	NCI-TCGA
rs1232990279	p.Ser246Cys	missense variant	-	NC_000002.12:g.163611096T>A	gnomAD
COSM4507309	p.Pro248Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163611090G>A	NCI-TCGA Cosmic
rs375057438	p.Pro248Arg	missense variant	-	NC_000002.12:g.163611089G>C	ESP,ExAC,TOPMed,gnomAD
rs375057438	p.Pro248Gln	missense variant	-	NC_000002.12:g.163611089G>T	ESP,ExAC,TOPMed,gnomAD
rs1285452631	p.Pro248Ala	missense variant	-	NC_000002.12:g.163611090G>C	gnomAD
NCI-TCGA novel	p.Ala250Asp	missense variant	-	NC_000002.12:g.163611083G>T	NCI-TCGA
rs761480208	p.Tyr252Cys	missense variant	-	NC_000002.12:g.163611077T>C	ExAC,gnomAD
rs1301988255	p.Pro254Ala	missense variant	-	NC_000002.12:g.163611072G>C	gnomAD
rs768254432	p.Gln255Glu	missense variant	-	NC_000002.12:g.163611069G>C	ExAC,gnomAD
rs1472087160	p.Val258Met	missense variant	-	NC_000002.12:g.163611060C>T	gnomAD
NCI-TCGA novel	p.Val258Ala	missense variant	-	NC_000002.12:g.163611059A>G	NCI-TCGA
rs1183439105	p.Gly259Arg	missense variant	-	NC_000002.12:g.163611057C>T	gnomAD
rs1421326928	p.Gly259Glu	missense variant	-	NC_000002.12:g.163611056C>T	gnomAD
rs1482463934	p.Tyr262Asn	missense variant	-	NC_000002.12:g.163611048A>T	gnomAD
rs1265441933	p.Ser263Asn	missense variant	-	NC_000002.12:g.163611044C>T	gnomAD
rs746263204	p.Pro264Ser	missense variant	-	NC_000002.12:g.163611042G>A	ExAC,gnomAD
rs1287493582	p.Pro264His	missense variant	-	NC_000002.12:g.163611041G>T	TOPMed
rs936402063	p.Gly265Trp	missense variant	-	NC_000002.12:g.163611039C>A	gnomAD
rs936402063	p.Gly265Arg	missense variant	-	NC_000002.12:g.163611039C>G	gnomAD
rs369831057	p.Gly265Ala	missense variant	-	NC_000002.12:g.163611038C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369831057	p.Gly265Glu	missense variant	-	NC_000002.12:g.163611038C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1311966717	p.Gly266Glu	missense variant	-	NC_000002.12:g.163611035C>T	gnomAD
rs752658889	p.Gly266Arg	missense variant	-	NC_000002.12:g.163611036C>G	ExAC,TOPMed,gnomAD
rs752658889	p.Gly266Arg	missense variant	-	NC_000002.12:g.163611036C>T	ExAC,TOPMed,gnomAD
rs1394257020	p.Ala267Thr	missense variant	-	NC_000002.12:g.163611033C>T	gnomAD
rs1394257020	p.Ala267Pro	missense variant	-	NC_000002.12:g.163611033C>G	gnomAD
rs755527396	p.Ala267GlyPheSerTerUnkUnkUnk	frameshift	-	NC_000002.12:g.163611032_163611033insC	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala267HisPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.163611033C>-	NCI-TCGA
rs1446938386	p.Pro268Leu	missense variant	-	NC_000002.12:g.163611029G>A	TOPMed,gnomAD
COSM441334	p.Pro270Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163611024G>A	NCI-TCGA Cosmic
rs576789489	p.Pro270Leu	missense variant	-	NC_000002.12:g.163611023G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Pro270Gln	missense variant	-	NC_000002.12:g.163611023G>T	NCI-TCGA
rs765176044	p.Pro271Ser	missense variant	-	NC_000002.12:g.163611021G>A	ExAC,gnomAD
rs900157979	p.Ala273Thr	missense variant	-	NC_000002.12:g.163611015C>T	TOPMed
rs761484365	p.Ala273Val	missense variant	-	NC_000002.12:g.163611014G>A	ExAC,TOPMed,gnomAD
rs556976192	p.Tyr274His	missense variant	-	NC_000002.12:g.163611012A>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Leu275CysPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.163611009G>-	NCI-TCGA
rs774939888	p.Gly278Val	missense variant	-	NC_000002.12:g.163610999C>A	ExAC,gnomAD
rs1392886714	p.Pro280Leu	missense variant	-	NC_000002.12:g.163610993G>A	TOPMed
NCI-TCGA novel	p.Pro282His	missense variant	-	NC_000002.12:g.163610987G>T	NCI-TCGA
rs1348548916	p.Thr283Ala	missense variant	-	NC_000002.12:g.163610985T>C	TOPMed
rs1348548916	p.Thr283Pro	missense variant	-	NC_000002.12:g.163610985T>G	TOPMed
rs1282455307	p.Pro284Ala	missense variant	-	NC_000002.12:g.163610982G>C	TOPMed,gnomAD
rs866216827	p.Pro284Arg	missense variant	-	NC_000002.12:g.163610981G>C	TOPMed
rs866216827	p.Pro284Leu	missense variant	-	NC_000002.12:g.163610981G>A	TOPMed
COSM3311670	p.Leu285TyrPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.163610979G>-	NCI-TCGA Cosmic
rs868215567	p.Leu285Pro	missense variant	-	NC_000002.12:g.163610978A>G	TOPMed
rs1482348264	p.Pro287Ser	missense variant	-	NC_000002.12:g.163610973G>A	TOPMed
rs1384985861	p.Thr288Pro	missense variant	-	NC_000002.12:g.163610970T>G	TOPMed,gnomAD
rs1384985861	p.Thr288Ala	missense variant	-	NC_000002.12:g.163610970T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Thr288HisPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.163610970_163610971insG	NCI-TCGA
NCI-TCGA novel	p.Thr288ProPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.163610971G>-	NCI-TCGA
rs778065250	p.Thr289Ala	missense variant	-	NC_000002.12:g.163610967T>C	ExAC,gnomAD
rs778065250	p.Thr289Pro	missense variant	-	NC_000002.12:g.163610967T>G	ExAC,gnomAD
rs1331167886	p.Val290Leu	missense variant	-	NC_000002.12:g.163610964C>G	gnomAD
rs756227042	p.Pro291Thr	missense variant	-	NC_000002.12:g.163610961G>T	ExAC,TOPMed,gnomAD
rs748294735	p.Gly292Ser	missense variant	-	NC_000002.12:g.163610958C>T	ExAC,TOPMed,gnomAD
rs1370400527	p.Tyr295Cys	missense variant	-	NC_000002.12:g.163610948T>C	TOPMed
NCI-TCGA novel	p.Gln296Ter	stop gained	-	NC_000002.12:g.163610946G>A	NCI-TCGA
COSM717167	p.Gly297Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610943C>A	NCI-TCGA Cosmic
rs750427873	p.Gly297Val	missense variant	-	NC_000002.12:g.163610942C>A	ExAC,TOPMed,gnomAD
rs750427873	p.Gly297Ala	missense variant	-	NC_000002.12:g.163610942C>G	ExAC,TOPMed,gnomAD
rs750427873	p.Gly297Asp	missense variant	-	NC_000002.12:g.163610942C>T	ExAC,TOPMed,gnomAD
rs371778587	p.His298Tyr	missense variant	-	NC_000002.12:g.163610940G>A	ESP,ExAC,gnomAD
rs757133510	p.His298Arg	missense variant	-	NC_000002.12:g.163610939T>C	ExAC,TOPMed,gnomAD
rs757133510	p.His298Leu	missense variant	-	NC_000002.12:g.163610939T>A	ExAC,TOPMed,gnomAD
rs199810876	p.Pro302Ser	missense variant	-	NC_000002.12:g.163610928G>A	ESP,ExAC,TOPMed,gnomAD
rs1449280108	p.Pro302Leu	missense variant	-	NC_000002.12:g.163610927G>A	gnomAD
rs763838524	p.Ile303Val	missense variant	-	NC_000002.12:g.163610925T>C	ExAC,TOPMed,gnomAD
rs760195152	p.Ala304Thr	missense variant	-	NC_000002.12:g.163610922C>T	ExAC,gnomAD
rs1308361820	p.Ala307Val	missense variant	-	NC_000002.12:g.163610912G>A	TOPMed,gnomAD
COSM717168	p.Leu308Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610910G>C	NCI-TCGA Cosmic
rs1220352513	p.Leu308Met	missense variant	-	NC_000002.12:g.163610910G>T	gnomAD
NCI-TCGA novel	p.Asn310Lys	missense variant	-	NC_000002.12:g.163610902G>C	NCI-TCGA
rs759038968	p.Ser311Asn	missense variant	-	NC_000002.12:g.163610900C>T	ExAC,TOPMed,gnomAD
rs774892657	p.Ala313Thr	missense variant	-	NC_000002.12:g.163610895C>T	ExAC,TOPMed,gnomAD
rs774892657	p.Ala313Ser	missense variant	-	NC_000002.12:g.163610895C>A	ExAC,TOPMed,gnomAD
rs771282061	p.Ser314Ile	missense variant	-	NC_000002.12:g.163610891C>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser314Gly	missense variant	-	NC_000002.12:g.163610892T>C	NCI-TCGA
NCI-TCGA novel	p.Ser315Tyr	missense variant	-	NC_000002.12:g.163610888G>T	NCI-TCGA
NCI-TCGA novel	p.Ser315Phe	missense variant	-	NC_000002.12:g.163610888G>A	NCI-TCGA
rs749664782	p.Leu316Phe	missense variant	-	NC_000002.12:g.163610886G>A	ExAC,gnomAD
rs1431008454	p.Lys317Arg	missense variant	-	NC_000002.12:g.163610882T>C	gnomAD
rs201797837	p.Ala320Pro	missense variant	-	NC_000002.12:g.163610874C>G	ESP,ExAC,TOPMed,gnomAD
rs201797837	p.Ala320Thr	missense variant	-	NC_000002.12:g.163610874C>T	ESP,ExAC,TOPMed,gnomAD
rs770080369	p.Tyr322Phe	missense variant	-	NC_000002.12:g.163610867T>A	ExAC,gnomAD
rs762970125	p.Met323Val	missense variant	-	NC_000002.12:g.163610865T>C	ExAC,TOPMed,gnomAD
COSM717169	p.Gly325Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610859C>A	NCI-TCGA Cosmic
rs201111311	p.Gly325Glu	missense variant	-	NC_000002.12:g.163610858C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly327Ala	missense variant	-	NC_000002.12:g.163610852C>G	NCI-TCGA
rs925358153	p.Asp328Asn	missense variant	-	NC_000002.12:g.163610850C>T	TOPMed
NCI-TCGA novel	p.Asp328Ter	frameshift	-	NC_000002.12:g.163610850_163610851insA	NCI-TCGA
rs757076772	p.Met329Val	missense variant	-	NC_000002.12:g.163610847T>C	ExAC,TOPMed,gnomAD
rs763841914	p.Met329Ile	missense variant	-	NC_000002.12:g.163610845C>A	ExAC,gnomAD
rs201919385	p.Met329Thr	missense variant	-	NC_000002.12:g.163610846A>G	1000Genomes,ExAC,TOPMed,gnomAD
COSM717170	p.Asp330Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610844C>A	NCI-TCGA Cosmic
rs1269743075	p.Ser332Ile	missense variant	-	NC_000002.12:g.163610837C>A	gnomAD
rs755906822	p.Ser332Gly	missense variant	-	NC_000002.12:g.163610838T>C	ExAC,gnomAD
rs1358504373	p.Gly334Val	missense variant	-	NC_000002.12:g.163610831C>A	TOPMed
rs1171128818	p.Gly334Ter	stop gained	-	NC_000002.12:g.163610832C>A	TOPMed
rs1304349184	p.Tyr336Ter	stop gained	-	NC_000002.12:g.163610824G>T	TOPMed
rs1433850724	p.Ser337Arg	missense variant	-	NC_000002.12:g.163610821G>T	TOPMed
rs1343793790	p.Ser337Cys	missense variant	-	NC_000002.12:g.163610823T>A	TOPMed,gnomAD
rs1281015043	p.Ser337Thr	missense variant	-	NC_000002.12:g.163610822C>G	gnomAD
rs1343793790	p.Ser337Gly	missense variant	-	NC_000002.12:g.163610823T>C	TOPMed,gnomAD
rs1225013068	p.Tyr338Asp	missense variant	-	NC_000002.12:g.163610820A>C	gnomAD
rs901175806	p.Gln340Arg	missense variant	-	NC_000002.12:g.163610813T>C	gnomAD
rs901175806	p.Gln340Pro	missense variant	-	NC_000002.12:g.163610813T>G	gnomAD
rs1439913645	p.Gln340Glu	missense variant	-	NC_000002.12:g.163610814G>C	TOPMed,gnomAD
rs1276078367	p.Gln340His	missense variant	-	NC_000002.12:g.163610812T>G	TOPMed
rs1345575380	p.Gln341Pro	missense variant	-	NC_000002.12:g.163610810T>G	gnomAD
NCI-TCGA novel	p.Ser343Tyr	missense variant	-	NC_000002.12:g.163610804G>T	NCI-TCGA
rs977916754	p.Thr344Ala	missense variant	-	NC_000002.12:g.163610802T>C	TOPMed
rs767140622	p.Thr344Lys	missense variant	-	NC_000002.12:g.163610801G>T	ExAC,gnomAD
rs1410900930	p.Gln345Leu	missense variant	-	NC_000002.12:g.163610798T>A	gnomAD
rs1284602103	p.Ser346Cys	missense variant	-	NC_000002.12:g.163610796T>A	gnomAD
rs759057543	p.Met348Val	missense variant	-	NC_000002.12:g.163610790T>C	ExAC,gnomAD
rs182427881	p.Tyr349Phe	missense variant	-	NC_000002.12:g.163610786T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1221635526	p.Tyr349His	missense variant	-	NC_000002.12:g.163610787A>G	gnomAD
rs1481569711	p.Arg350Lys	missense variant	-	NC_000002.12:g.163610783C>T	gnomAD
rs1265329633	p.Met351Val	missense variant	-	NC_000002.12:g.163610781T>C	TOPMed
rs1461946308	p.Met351Ile	missense variant	-	NC_000002.12:g.163610779C>T	TOPMed
rs766943714	p.Asp353Asn	missense variant	-	NC_000002.12:g.163610775C>T	ExAC,TOPMed,gnomAD
rs763323004	p.Asn354Ser	missense variant	-	NC_000002.12:g.163610771T>C	ExAC,gnomAD
rs1204911506	p.Ser355Gly	missense variant	-	NC_000002.12:g.163610769T>C	gnomAD
NCI-TCGA novel	p.Ser357Leu	missense variant	-	NC_000002.12:g.163610762G>A	NCI-TCGA
NCI-TCGA novel	p.Asn358Asp	missense variant	-	NC_000002.12:g.163610760T>C	NCI-TCGA
rs1441603373	p.Thr359Ser	missense variant	-	NC_000002.12:g.163610757T>A	gnomAD
rs1205155374	p.Arg361Trp	missense variant	-	NC_000002.12:g.163610751G>A	TOPMed,gnomAD
rs770100326	p.Arg361Gln	missense variant	-	NC_000002.12:g.163610750C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg361Leu	missense variant	-	NC_000002.12:g.163610750C>A	NCI-TCGA
rs777052461	p.Asn363Ser	missense variant	-	NC_000002.12:g.163610744T>C	ExAC,gnomAD
rs747092129	p.Asn363Lys	missense variant	-	NC_000002.12:g.163610743A>T	ExAC,gnomAD
rs779948328	p.Phe365Leu	missense variant	-	NC_000002.12:g.163610737A>T	ExAC,gnomAD
rs772167659	p.Asp366Gly	missense variant	-	NC_000002.12:g.163610735T>C	ExAC,gnomAD
rs772167659	p.Asp366Ala	missense variant	-	NC_000002.12:g.163610735T>G	ExAC,gnomAD
rs1335225245	p.Ser368Gly	missense variant	-	NC_000002.12:g.163610730T>C	gnomAD
rs749223662	p.Ala369Thr	missense variant	-	NC_000002.12:g.163610727C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser372Leu	missense variant	-	NC_000002.12:g.163610717G>A	NCI-TCGA
NCI-TCGA novel	p.Ser372Ter	stop gained	-	NC_000002.12:g.163610717G>C	NCI-TCGA
rs1054122780	p.Ser373Tyr	missense variant	-	NC_000002.12:g.163610714G>T	gnomAD
rs376287623	p.Ser373Pro	missense variant	-	NC_000002.12:g.163610715A>G	ESP
rs1410313294	p.Leu374Ser	missense variant	-	NC_000002.12:g.163610711A>G	gnomAD
COSM1008425	p.Phe376Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610705A>C	NCI-TCGA Cosmic
COSM287659	p.Lys377Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610703T>C	NCI-TCGA Cosmic
rs1177694002	p.Lys377Arg	missense variant	-	NC_000002.12:g.163610702T>C	gnomAD
rs752427253	p.Pro378Ser	missense variant	-	NC_000002.12:g.163610700G>A	ExAC,gnomAD
rs1327147379	p.Thr379Met	missense variant	-	NC_000002.12:g.163610696G>A	gnomAD
rs1430870590	p.Thr379Ser	missense variant	-	NC_000002.12:g.163610697T>A	TOPMed
rs751095260	p.Gln381Pro	missense variant	-	NC_000002.12:g.163610690T>G	ExAC,gnomAD
rs762497517	p.Gln381His	missense variant	-	NC_000002.12:g.163610689C>G	ExAC,gnomAD
rs762497517	p.Gln381His	missense variant	-	NC_000002.12:g.163610689C>A	ExAC,gnomAD
rs765762490	p.Met383Thr	missense variant	-	NC_000002.12:g.163610684A>G	ExAC,gnomAD
rs917585173	p.Ser384Thr	missense variant	-	NC_000002.12:g.163610682A>T	gnomAD
rs374676137	p.Gln387Glu	missense variant	-	NC_000002.12:g.163610673G>C	ESP,ExAC,TOPMed,gnomAD
rs769032192	p.Gln388His	missense variant	-	NC_000002.12:g.163610668T>G	ExAC,gnomAD
rs775748194	p.Ser392Thr	missense variant	-	NC_000002.12:g.163610657C>G	ExAC,gnomAD
rs1428947870	p.Ser392Arg	missense variant	-	NC_000002.12:g.163610658T>G	gnomAD
rs1160003148	p.Gln394His	missense variant	-	NC_000002.12:g.163610650C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Gln394Ter	stop gained	-	NC_000002.12:g.163610652G>A	NCI-TCGA
rs772109899	p.Ser395Phe	missense variant	-	NC_000002.12:g.163610648G>A	ExAC,gnomAD
rs370402484	p.Ser396Gly	missense variant	-	NC_000002.12:g.163610646T>C	ESP,ExAC,TOPMed,gnomAD
rs1479745085	p.Ser396Asn	missense variant	-	NC_000002.12:g.163610645C>T	gnomAD
rs769648766	p.Ala398Val	missense variant	-	NC_000002.12:g.163610639G>A	ExAC,TOPMed,gnomAD
rs1247226549	p.Ala398Thr	missense variant	-	NC_000002.12:g.163610640C>T	gnomAD
rs1486675750	p.Leu399Met	missense variant	-	NC_000002.12:g.163610637G>T	gnomAD
COSM441333	p.Thr400Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610633G>A	NCI-TCGA Cosmic
rs1242122298	p.Thr400Asn	missense variant	-	NC_000002.12:g.163610633G>T	gnomAD
rs747965881	p.Pro401Ala	missense variant	-	NC_000002.12:g.163610631G>C	ExAC,gnomAD
COSM1528572	p.Pro402Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610628G>A	NCI-TCGA Cosmic
rs780920220	p.Pro402Ala	missense variant	-	NC_000002.12:g.163610628G>C	ExAC,TOPMed,gnomAD
rs1290259645	p.Pro402Leu	missense variant	-	NC_000002.12:g.163610627G>A	TOPMed,gnomAD
rs1295390055	p.Ser405Gly	missense variant	-	NC_000002.12:g.163610619T>C	TOPMed,gnomAD
rs1213026472	p.Thr406Ala	missense variant	-	NC_000002.12:g.163610616T>C	gnomAD
rs962029287	p.Ala407Thr	missense variant	-	NC_000002.12:g.163610613C>T	TOPMed
rs1364352446	p.Ser410Leu	missense variant	-	NC_000002.12:g.163610603G>A	gnomAD
rs368281111	p.Gly412Arg	missense variant	-	NC_000002.12:g.163610598C>T	1000Genomes,ExAC,gnomAD
rs765845944	p.Arg414Ile	missense variant	-	NC_000002.12:g.163610591C>A	ExAC,gnomAD
rs1168139432	p.Ser416Asn	missense variant	-	NC_000002.12:g.163610585C>T	gnomAD
rs1372273939	p.Ser416Cys	missense variant	-	NC_000002.12:g.163610586T>A	gnomAD
rs754373405	p.Ser418Cys	missense variant	-	NC_000002.12:g.163610579G>C	ExAC,gnomAD
rs761115381	p.Phe419Tyr	missense variant	-	NC_000002.12:g.163610576A>T	ExAC,gnomAD
COSM717174	p.Gly420Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610573C>A	NCI-TCGA Cosmic
COSM717172	p.Gly420Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610574C>A	NCI-TCGA Cosmic
rs1489621818	p.Gly420Arg	missense variant	-	NC_000002.12:g.163610574C>T	gnomAD
rs1270474716	p.Gly420Glu	missense variant	-	NC_000002.12:g.163610573C>T	TOPMed,gnomAD
rs190208457	p.Lys421Asn	missense variant	-	NC_000002.12:g.163610569C>G	1000Genomes,ExAC,TOPMed
rs1156642059	p.Lys421Arg	missense variant	-	NC_000002.12:g.163610570T>C	TOPMed
NCI-TCGA novel	p.Tyr422His	missense variant	-	NC_000002.12:g.163610568A>G	NCI-TCGA
rs759535055	p.Val426Leu	missense variant	-	NC_000002.12:g.163610556C>G	ExAC,gnomAD
COSM1008424	p.Val426Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610555A>G	NCI-TCGA Cosmic
rs759535055	p.Val426Leu	missense variant	-	NC_000002.12:g.163610556C>A	ExAC,gnomAD
COSM5058190	p.Met427Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610551C>T	NCI-TCGA Cosmic
rs1309430688	p.Met427Ile	missense variant	-	NC_000002.12:g.163610551C>A	gnomAD
rs1296598887	p.His430Pro	missense variant	-	NC_000002.12:g.163610543T>G	gnomAD
COSM4086053	p.Gly431Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610540C>A	NCI-TCGA Cosmic
rs748135782	p.Gly431Ala	missense variant	-	NC_000002.12:g.163610540C>G	ExAC,gnomAD
rs1343693546	p.Gly431Trp	missense variant	-	NC_000002.12:g.163610541C>A	gnomAD
rs147892601	p.Glu433Lys	missense variant	-	NC_000002.12:g.163610535C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1201164096	p.His434Gln	missense variant	-	NC_000002.12:g.163610530G>C	TOPMed,gnomAD
NCI-TCGA novel	p.His434Ter	stop gained	-	NC_000002.12:g.163610529_163610530insTCA	NCI-TCGA
NCI-TCGA novel	p.His434GlnPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.163610530_163610531insGAATTCC	NCI-TCGA
NCI-TCGA novel	p.Gln436Lys	missense variant	-	NC_000002.12:g.163610526G>T	NCI-TCGA
rs779586480	p.Leu437Phe	missense variant	-	NC_000002.12:g.163610523G>A	ExAC,gnomAD
rs145250494	p.Ser439Cys	missense variant	-	NC_000002.12:g.163610516G>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser439Tyr	missense variant	-	NC_000002.12:g.163610516G>T	NCI-TCGA
COSM70782	p.Pro441Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610511G>T	NCI-TCGA Cosmic
rs186030983	p.Met442Leu	missense variant	-	NC_000002.12:g.163610508T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs756795961	p.Met442Ile	missense variant	-	NC_000002.12:g.163610506C>T	ExAC,gnomAD
rs186030983	p.Met442Val	missense variant	-	NC_000002.12:g.163610508T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs756795961	p.Met442Ile	missense variant	-	NC_000002.12:g.163610506C>A	ExAC,gnomAD
rs186030983	p.Met442Leu	missense variant	-	NC_000002.12:g.163610508T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs754461348	p.Gly444Asp	missense variant	-	NC_000002.12:g.163610501C>T	ExAC,gnomAD
rs897338033	p.Pro445Ser	missense variant	-	NC_000002.12:g.163610499G>A	TOPMed
rs756447748	p.Gly446Glu	missense variant	-	NC_000002.12:g.163610495C>T	ExAC,gnomAD
rs1225361214	p.Leu447Arg	missense variant	-	NC_000002.12:g.163610492A>C	gnomAD
rs774416656	p.Arg448His	missense variant	-	NC_000002.12:g.163610489C>T	ExAC,TOPMed,gnomAD
rs2231904	p.Arg448Cys	missense variant	-	NC_000002.12:g.163610490G>A	ExAC,TOPMed,gnomAD
rs1046963595	p.Ala449Thr	missense variant	-	NC_000002.12:g.163610487C>T	TOPMed
NCI-TCGA novel	p.Ala449Glu	missense variant	-	NC_000002.12:g.163610486G>T	NCI-TCGA
rs1481804173	p.Ala450Val	missense variant	-	NC_000002.12:g.163610483G>A	gnomAD
COSM3568622	p.Ser453Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610474G>A	NCI-TCGA Cosmic
COSM4847972	p.Ser456Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610465G>A	NCI-TCGA Cosmic
rs769689570	p.Asp458Glu	missense variant	-	NC_000002.12:g.163610458G>C	ExAC,TOPMed,gnomAD
rs766488624	p.Asp458Asn	missense variant	-	NC_000002.12:g.163610460C>T	ExAC,TOPMed,gnomAD
rs769689570	p.Asp458Glu	missense variant	-	NC_000002.12:g.163610458G>T	ExAC,TOPMed,gnomAD
rs745997168	p.Glu459Lys	missense variant	-	NC_000002.12:g.163610457C>T	ExAC,TOPMed,gnomAD
rs746785083	p.Gln460Arg	missense variant	-	NC_000002.12:g.163610453T>C	ExAC,TOPMed,gnomAD
rs746785083	p.Gln460Pro	missense variant	-	NC_000002.12:g.163610453T>G	ExAC,TOPMed,gnomAD
rs776681297	p.Leu461Gln	missense variant	-	NC_000002.12:g.163610450A>T	TOPMed,gnomAD
rs745572184	p.Asp465Glu	missense variant	-	NC_000002.12:g.163610437G>C	ExAC,gnomAD
rs778703088	p.Thr466Arg	missense variant	-	NC_000002.12:g.163610435G>C	ExAC,TOPMed,gnomAD
rs778703088	p.Thr466Met	missense variant	-	NC_000002.12:g.163610435G>A	ExAC,TOPMed,gnomAD
rs1335914206	p.Thr466Ala	missense variant	-	NC_000002.12:g.163610436T>C	gnomAD
rs778425185	p.His467Asn	missense variant	-	NC_000002.12:g.163610433G>T	ExAC,gnomAD
rs771253695	p.His467Arg	missense variant	-	NC_000002.12:g.163610432T>C	TOPMed
NCI-TCGA novel	p.His467Tyr	missense variant	-	NC_000002.12:g.163610433G>A	NCI-TCGA
rs372466697	p.Leu468Val	missense variant	-	NC_000002.12:g.163610430G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu468Phe	missense variant	-	NC_000002.12:g.163610430G>A	NCI-TCGA
NCI-TCGA novel	p.Asp470Glu	missense variant	-	NC_000002.12:g.163610422G>T	NCI-TCGA
COSM281164	p.Thr473Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610415T>G	NCI-TCGA Cosmic
rs368825488	p.Thr473Ile	missense variant	-	NC_000002.12:g.163610414G>A	ESP,ExAC,TOPMed,gnomAD
rs368825488	p.Thr473Asn	missense variant	-	NC_000002.12:g.163610414G>T	ESP,ExAC,TOPMed,gnomAD
rs925409571	p.Asn474Thr	missense variant	-	NC_000002.12:g.163610411T>G	TOPMed,gnomAD
rs1239169513	p.Asn474Asp	missense variant	-	NC_000002.12:g.163610412T>C	gnomAD
COSM4086052	p.Glu475Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610408T>G	NCI-TCGA Cosmic
rs1460111191	p.Glu475Val	missense variant	-	NC_000002.12:g.163610408T>A	gnomAD
rs751848395	p.Glu475Lys	missense variant	-	NC_000002.12:g.163610409C>T	ExAC
rs766578615	p.Glu475Asp	missense variant	-	NC_000002.12:g.163610407C>G	ExAC,gnomAD
COSM275172	p.Ile476Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610405A>C	NCI-TCGA Cosmic
rs750435900	p.Gln479Arg	missense variant	-	NC_000002.12:g.163610396T>C	ExAC
COSM1008423	p.Pro481His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610390G>T	NCI-TCGA Cosmic
rs1350015216	p.Pro481Leu	missense variant	-	NC_000002.12:g.163610390G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Asp484His	missense variant	-	NC_000002.12:g.163610382C>G	NCI-TCGA
rs1438253177	p.Trp485Arg	missense variant	-	NC_000002.12:g.163610379A>G	TOPMed
rs763970575	p.Asn486Ser	missense variant	-	NC_000002.12:g.163610375T>C	ExAC,gnomAD
rs1317446886	p.Ile488Val	missense variant	-	NC_000002.12:g.163610370T>C	gnomAD
rs759236740	p.Asp492Asn	missense variant	-	NC_000002.12:g.163610358C>T	ExAC,TOPMed,gnomAD
rs748833902	p.Ala496Ser	missense variant	-	NC_000002.12:g.163610346C>A	ExAC,TOPMed,gnomAD
rs748833902	p.Ala496Pro	missense variant	-	NC_000002.12:g.163610346C>G	ExAC,TOPMed,gnomAD
rs777365899	p.Val497Ile	missense variant	-	NC_000002.12:g.163610343C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ile498Ser	missense variant	-	NC_000002.12:g.163610339A>C	NCI-TCGA
rs1381490246	p.Lys499Glu	missense variant	-	NC_000002.12:g.163610337T>C	gnomAD
rs377719119	p.Glu500Gly	missense variant	-	NC_000002.12:g.163610333T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu500Ter	stop gained	-	NC_000002.12:g.163610334C>A	NCI-TCGA
rs748727733	p.Glu501Gly	missense variant	-	NC_000002.12:g.163610330T>C	ExAC,gnomAD
rs1166718690	p.Pro505Leu	missense variant	-	NC_000002.12:g.163610318G>A	TOPMed
NCI-TCGA novel	p.Pro505Gln	missense variant	-	NC_000002.12:g.163610318G>T	NCI-TCGA
rs1245407673	p.Val506Leu	missense variant	-	NC_000002.12:g.163610316C>G	gnomAD
rs1399252629	p.Val506Gly	missense variant	-	NC_000002.12:g.163610315A>C	TOPMed
rs755431949	p.Leu507Phe	missense variant	-	NC_000002.12:g.163610311C>G	ExAC,TOPMed,gnomAD
rs1259662024	p.Arg508Gly	missense variant	-	NC_000002.12:g.163610310T>C	gnomAD
COSM3837186	p.Ser509Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.163610306G>C	NCI-TCGA Cosmic
rs374655005	p.Ser509Leu	missense variant	-	NC_000002.12:g.163610306G>A	ESP,ExAC,TOPMed,gnomAD
rs751868471	p.Ser509Pro	missense variant	-	NC_000002.12:g.163610307A>G	ExAC,gnomAD
rs558707951	p.Asp510Glu	missense variant	-	NC_000002.12:g.163610302G>C	1000Genomes,ExAC,gnomAD
rs200358782	p.Ala511Pro	missense variant	-	NC_000002.12:g.163610301C>G	ESP,ExAC,TOPMed,gnomAD
rs200358782	p.Ala511Thr	missense variant	-	NC_000002.12:g.163610301C>T	ESP,ExAC,TOPMed,gnomAD
rs182737096	p.Ala511Val	missense variant	-	NC_000002.12:g.163610300G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala511Ser	missense variant	-	NC_000002.12:g.163610301C>A	NCI-TCGA
rs774244177	p.Thr516Met	missense variant	-	NC_000002.12:g.163610285G>A	ExAC,TOPMed,gnomAD
rs772707463	p.Pro519Ser	missense variant	-	NC_000002.12:g.163610277G>A	ExAC,TOPMed,gnomAD
rs772707463	p.Pro519Ala	missense variant	-	NC_000002.12:g.163610277G>C	ExAC,TOPMed,gnomAD
rs772707463	p.Pro519Thr	missense variant	-	NC_000002.12:g.163610277G>T	ExAC,TOPMed,gnomAD
rs747600819	p.Arg520Trp	missense variant	-	NC_000002.12:g.163610274G>A	ExAC,TOPMed,gnomAD
rs781730895	p.Arg520Gln	missense variant	-	NC_000002.12:g.163610273C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu523Ile	missense variant	-	NC_000002.12:g.163610265G>T	NCI-TCGA
rs569585288	p.Leu524Phe	missense variant	-	NC_000002.12:g.163610260T>A	1000Genomes
rs780348332	p.Arg528Leu	missense variant	-	NC_000002.12:g.163610249C>A	ExAC,TOPMed,gnomAD
rs768982332	p.Arg528Trp	missense variant	-	NC_000002.12:g.163610250G>A	ExAC,TOPMed,gnomAD
rs780348332	p.Arg528Gln	missense variant	-	NC_000002.12:g.163610249C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg528GlnPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.163610249_163610250insT	NCI-TCGA
COSM6154546	p.Gly529Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610247C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr530GlnPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.163610245C>-	NCI-TCGA
NCI-TCGA novel	p.Thr530Ala	missense variant	-	NC_000002.12:g.163610244T>C	NCI-TCGA
COSM717176	p.Thr533Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610235T>A	NCI-TCGA Cosmic
rs1460528032	p.Leu534Ser	missense variant	-	NC_000002.12:g.163610231A>G	gnomAD
rs1478173225	p.Leu535Val	missense variant	-	NC_000002.12:g.163610229A>C	TOPMed,gnomAD
rs1268336530	p.Gly536Cys	missense variant	-	NC_000002.12:g.163610226C>A	TOPMed,gnomAD
rs1220145280	p.Arg537Gly	missense variant	-	NC_000002.12:g.163610223T>C	gnomAD
rs1490839889	p.Cys538Arg	missense variant	-	NC_000002.12:g.163610220A>G	gnomAD
rs971114703	p.Cys538Trp	missense variant	-	NC_000002.12:g.163610218G>C	TOPMed,gnomAD
rs202196057	p.Ala540Thr	missense variant	-	NC_000002.12:g.163610214C>T	ESP,ExAC,TOPMed,gnomAD
rs202196057	p.Ala540Ser	missense variant	-	NC_000002.12:g.163610214C>A	ESP,ExAC,TOPMed,gnomAD
rs372484991	p.Ser541Thr	missense variant	-	NC_000002.12:g.163610210C>G	ESP,ExAC,gnomAD
rs779607837	p.Ser541Gly	missense variant	-	NC_000002.12:g.163610211T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser541Asn	missense variant	-	NC_000002.12:g.163610210C>T	NCI-TCGA
rs1344303905	p.Gln542His	missense variant	-	NC_000002.12:g.163610206C>G	gnomAD
rs1280884046	p.Ala545Thr	missense variant	-	NC_000002.12:g.163610199C>T	gnomAD
rs1232360210	p.Thr546Ile	missense variant	-	NC_000002.12:g.163610195G>A	TOPMed
rs1368014291	p.Lys549Arg	missense variant	-	NC_000002.12:g.163610186T>C	gnomAD
rs755912233	p.Lys549Glu	missense variant	-	NC_000002.12:g.163610187T>C	ExAC,TOPMed,gnomAD
rs369201762	p.Lys549Asn	missense variant	-	NC_000002.12:g.163610185T>A	ESP,ExAC,gnomAD
rs755526237	p.Gly552Ser	missense variant	-	NC_000002.12:g.163610178C>T	ExAC,TOPMed,gnomAD
rs755526237	p.Gly552Arg	missense variant	-	NC_000002.12:g.163610178C>G	ExAC,TOPMed,gnomAD
rs755526237	p.Gly552Cys	missense variant	-	NC_000002.12:g.163610178C>A	ExAC,TOPMed,gnomAD
rs895424443	p.Ser553Pro	missense variant	-	NC_000002.12:g.163610175A>G	TOPMed
rs762834705	p.Gly554Glu	missense variant	-	NC_000002.12:g.163610171C>T	ExAC,TOPMed,gnomAD
rs1448083220	p.Leu555Ile	missense variant	-	NC_000002.12:g.163610169G>T	TOPMed
COSM1564726	p.Val556Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610165A>T	NCI-TCGA Cosmic
rs192291902	p.Ala557Asp	missense variant	-	NC_000002.12:g.163610162G>T	1000Genomes
rs201166518	p.Ala557Thr	missense variant	-	NC_000002.12:g.163610163C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala557Val	missense variant	-	NC_000002.12:g.163610162G>A	NCI-TCGA
rs1481648150	p.Lys558Asn	missense variant	-	NC_000002.12:g.163610158C>G	TOPMed
rs761395929	p.Leu560Ser	missense variant	-	NC_000002.12:g.163610153A>G	ExAC,TOPMed,gnomAD
rs367860574	p.Gly561Arg	missense variant	-	NC_000002.12:g.163610151C>T	ESP,ExAC,TOPMed,gnomAD
rs367860574	p.Gly561Arg	missense variant	-	NC_000002.12:g.163610151C>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly561Ala	missense variant	-	NC_000002.12:g.163610150C>G	NCI-TCGA
rs187000091	p.Glu562Lys	missense variant	-	NC_000002.12:g.163610148C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1317489386	p.Glu562Asp	missense variant	-	NC_000002.12:g.163610146T>G	TOPMed,gnomAD
rs747565416	p.Ala563Thr	missense variant	-	NC_000002.12:g.163610145C>T	ExAC,gnomAD
rs772482079	p.Glu564Asp	missense variant	-	NC_000002.12:g.163610140C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu564Ter	stop gained	-	NC_000002.12:g.163610142C>A	NCI-TCGA
rs2231905	p.Lys565Arg	missense variant	-	NC_000002.12:g.163610138T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM1008421	p.Ile566Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610135A>C	NCI-TCGA Cosmic
rs757380398	p.Ile567Phe	missense variant	-	NC_000002.12:g.163610133T>A	ExAC,gnomAD
rs757380398	p.Ile567Val	missense variant	-	NC_000002.12:g.163610133T>C	ExAC,gnomAD
rs1301287532	p.His568Tyr	missense variant	-	NC_000002.12:g.163610130G>A	TOPMed
rs368686636	p.Ala569Gly	missense variant	-	NC_000002.12:g.163610126G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser570Tyr	missense variant	-	NC_000002.12:g.163610123G>T	NCI-TCGA
rs1466279727	p.Ala574Ser	missense variant	-	NC_000002.12:g.163610112C>A	gnomAD
rs758283927	p.Arg575Ser	missense variant	-	NC_000002.12:g.163610107C>A	ExAC,gnomAD
rs750122544	p.Arg577His	missense variant	-	NC_000002.12:g.163610102C>T	ExAC,TOPMed,gnomAD
rs1174307306	p.Arg577Cys	missense variant	-	NC_000002.12:g.163610103G>A	gnomAD
NCI-TCGA novel	p.Ser580Pro	missense variant	-	NC_000002.12:g.163610094A>G	NCI-TCGA
rs371210704	p.Ser585Gly	missense variant	-	NC_000002.12:g.163610079T>C	ESP,ExAC,TOPMed,gnomAD
rs943177115	p.Asp586Glu	missense variant	-	NC_000002.12:g.163610074G>T	TOPMed
rs1468596498	p.Ile587Thr	missense variant	-	NC_000002.12:g.163610072A>G	TOPMed,gnomAD
COSM441332	p.Asp588His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610070C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp588Gly	missense variant	-	NC_000002.12:g.163610069T>C	NCI-TCGA
rs760175528	p.Met589Ile	missense variant	-	NC_000002.12:g.163610065C>A	ExAC,gnomAD
rs376375162	p.Met589Thr	missense variant	-	NC_000002.12:g.163610066A>G	ESP,ExAC,TOPMed,gnomAD
rs760175528	p.Met589Ile	missense variant	-	NC_000002.12:g.163610065C>T	ExAC,gnomAD
rs1234326843	p.Met589Val	missense variant	-	NC_000002.12:g.163610067T>C	gnomAD
rs374940607	p.Leu590Phe	missense variant	-	NC_000002.12:g.163610064G>A	ESP,ExAC,TOPMed,gnomAD
rs951906187	p.Leu591Phe	missense variant	-	NC_000002.12:g.163610061G>A	TOPMed
rs951906187	p.Leu591Val	missense variant	-	NC_000002.12:g.163610061G>C	TOPMed
rs918946939	p.Gln594Arg	missense variant	-	NC_000002.12:g.163610051T>C	TOPMed
rs1223712119	p.Gln594Lys	missense variant	-	NC_000002.12:g.163610052G>T	gnomAD
NCI-TCGA novel	p.Val595Leu	missense variant	-	NC_000002.12:g.163610049C>A	NCI-TCGA
rs774530013	p.Glu597Gln	missense variant	-	NC_000002.12:g.163610043C>G	ExAC,gnomAD
rs774530013	p.Glu597Lys	missense variant	-	NC_000002.12:g.163610043C>T	ExAC,gnomAD
rs771300881	p.Glu597Gly	missense variant	-	NC_000002.12:g.163610042T>C	ExAC,gnomAD
rs756945088	p.Glu598Gly	missense variant	-	NC_000002.12:g.163610039T>C	gnomAD
rs756945088	p.Glu598Ala	missense variant	-	NC_000002.12:g.163610039T>G	gnomAD
rs370286235	p.Ser600Asn	missense variant	-	NC_000002.12:g.163610033C>T	ESP,ExAC,TOPMed,gnomAD
rs548435880	p.Val602Ala	missense variant	-	NC_000002.12:g.163610027A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs548435880	p.Val602Asp	missense variant	-	NC_000002.12:g.163610027A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs778134806	p.Val602Phe	missense variant	-	NC_000002.12:g.163610028C>A	ExAC,gnomAD
rs866192022	p.Arg604Gln	missense variant	-	NC_000002.12:g.163610021C>T	TOPMed,gnomAD
rs748183827	p.Arg604Trp	missense variant	-	NC_000002.12:g.163610022G>A	ExAC,TOPMed,gnomAD
rs748183827	p.Arg604Gly	missense variant	-	NC_000002.12:g.163610022G>C	ExAC,TOPMed,gnomAD
rs780148272	p.Met605Leu	missense variant	-	NC_000002.12:g.163610019T>G	ExAC,gnomAD
rs1158978785	p.Arg606Lys	missense variant	-	NC_000002.12:g.163610015C>T	gnomAD
rs1161722739	p.Arg606Ser	missense variant	-	NC_000002.12:g.163610014T>A	TOPMed
rs374396460	p.Glu608Lys	missense variant	-	NC_000002.12:g.163610010C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu608Asp	missense variant	-	NC_000002.12:g.163610008T>G	NCI-TCGA
COSM3990691	p.Phe609Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610005A>T	NCI-TCGA Cosmic
COSM476119	p.Met611Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163609999C>G	NCI-TCGA Cosmic
rs753503437	p.Met611Thr	missense variant	-	NC_000002.12:g.163610000A>G	ExAC,gnomAD
rs1013794516	p.Met611Leu	missense variant	-	NC_000002.12:g.163610001T>G	TOPMed
rs1243172277	p.Thr615Ile	missense variant	-	NC_000002.12:g.163609988G>A	TOPMed
rs1241556271	p.Leu617Ile	missense variant	-	NC_000002.12:g.163609983G>T	TOPMed,gnomAD
rs559490173	p.Ser619Leu	missense variant	-	NC_000002.12:g.163609976G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1230171515	p.Ala620Ser	missense variant	-	NC_000002.12:g.163609974C>A	gnomAD
rs1380180278	p.Asp622Glu	missense variant	-	NC_000002.12:g.163609966G>T	TOPMed,gnomAD
rs774889343	p.Ile624Thr	missense variant	-	NC_000002.12:g.163609961A>G	ExAC,gnomAD
rs763361411	p.Val625Leu	missense variant	-	NC_000002.12:g.163609959C>A	ExAC,TOPMed,gnomAD
rs763361411	p.Val625Leu	missense variant	-	NC_000002.12:g.163609959C>G	ExAC,TOPMed,gnomAD
rs763361411	p.Val625Ile	missense variant	-	NC_000002.12:g.163609959C>T	ExAC,TOPMed,gnomAD
rs773584014	p.Val626Leu	missense variant	-	NC_000002.12:g.163609956C>G	ExAC,gnomAD
rs1363486323	p.Cys628Ser	missense variant	-	NC_000002.12:g.163609949C>G	gnomAD
rs1387095379	p.Ser631Arg	missense variant	-	NC_000002.12:g.163609939A>C	TOPMed
NCI-TCGA novel	p.Ser639Phe	missense variant	-	NC_000002.12:g.163609916G>A	NCI-TCGA
rs1418380064	p.Leu640Phe	missense variant	-	NC_000002.12:g.163609914G>A	gnomAD
rs373009586	p.Arg641Gln	missense variant	-	NC_000002.12:g.163609910C>T	ESP,ExAC,gnomAD
rs781372648	p.Arg641Trp	missense variant	-	NC_000002.12:g.163609911G>A	ExAC
rs369917415	p.Phe644Leu	missense variant	-	NC_000002.12:g.163609902A>G	ESP,ExAC,TOPMed,gnomAD
COSM5736235	p.Arg647Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.163609893G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro653Thr	missense variant	-	NC_000002.12:g.163609875G>T	NCI-TCGA
rs1445178845	p.Ala657Val	missense variant	-	NC_000002.12:g.163609862G>A	TOPMed
rs777432154	p.His659Tyr	missense variant	-	NC_000002.12:g.163609857G>A	ExAC,TOPMed,gnomAD
rs1322511155	p.Ile661Thr	missense variant	-	NC_000002.12:g.163609850A>G	gnomAD
rs1490790566	p.Ile662Val	missense variant	-	NC_000002.12:g.163609848T>C	TOPMed,gnomAD
rs1295080953	p.Ile662Met	missense variant	-	NC_000002.12:g.163609846T>C	gnomAD
rs543794640	p.Val663Ile	missense variant	-	NC_000002.12:g.163609845C>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Val663Ala	missense variant	-	NC_000002.12:g.163609844A>G	NCI-TCGA
rs752320617	p.Gln664Ter	stop gained	-	NC_000002.12:g.163609842G>A	ExAC,gnomAD
rs759080544	p.Leu665Met	missense variant	-	NC_000002.12:g.163609839G>T	ExAC,gnomAD
rs752062335	p.Gln668Arg	missense variant	-	NC_000002.12:g.163609829T>C	ExAC,gnomAD
rs763234059	p.His669Arg	missense variant	-	NC_000002.12:g.163609826T>C	ExAC,TOPMed,gnomAD
rs773673802	p.Asn670Ser	missense variant	-	NC_000002.12:g.163609823T>C	ExAC,gnomAD
rs1296390139	p.Cys672Trp	missense variant	-	NC_000002.12:g.163609816A>C	gnomAD
rs1401093936	p.Asp675Gly	missense variant	-	NC_000002.12:g.163609808T>C	TOPMed
rs776966651	p.Ala679Val	missense variant	-	NC_000002.12:g.163609796G>A	ExAC,gnomAD
rs1198081573	p.Leu680Met	missense variant	-	NC_000002.12:g.163609794G>T	gnomAD
rs772366924	p.Val682Ile	missense variant	-	NC_000002.12:g.163609788C>T	ExAC,TOPMed,gnomAD
rs1193464973	p.Gln683Arg	missense variant	-	NC_000002.12:g.163609784T>C	gnomAD
rs375256647	p.Arg684His	missense variant	-	NC_000002.12:g.163609781C>T	ESP,ExAC,TOPMed,gnomAD
rs747101469	p.Arg684Cys	missense variant	-	NC_000002.12:g.163609782G>A	ExAC,gnomAD
rs749099633	p.Glu686Gly	missense variant	-	NC_000002.12:g.163609775T>C	ExAC,gnomAD
rs1223011763	p.Gly687Asp	missense variant	-	NC_000002.12:g.163609772C>T	gnomAD
rs755871895	p.Ser689Tyr	missense variant	-	NC_000002.12:g.163609766G>T	ExAC,TOPMed,gnomAD
rs755871895	p.Ser689Cys	missense variant	-	NC_000002.12:g.163609766G>C	ExAC,TOPMed,gnomAD
rs780883230	p.Asp692His	missense variant	-	NC_000002.12:g.163609758C>G	ExAC,TOPMed,gnomAD
rs754458758	p.Val693Met	missense variant	-	NC_000002.12:g.163609755C>T	ExAC,TOPMed,gnomAD
rs766827746	p.Ala694Val	missense variant	-	NC_000002.12:g.163609751G>A	ExAC,gnomAD
rs140327557	p.His695Arg	missense variant	-	NC_000002.12:g.163609748T>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu699Lys	missense variant	-	NC_000002.12:g.163609737C>T	NCI-TCGA
rs750944652	p.Ala700Gly	missense variant	-	NC_000002.12:g.163609733G>C	ExAC,gnomAD
COSM256071	p.Val701Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163609731C>T	NCI-TCGA Cosmic
rs765741703	p.Val701Leu	missense variant	-	NC_000002.12:g.163609731C>A	ExAC,gnomAD
rs762267953	p.Pro704His	missense variant	-	NC_000002.12:g.163609721G>T	ExAC,TOPMed,gnomAD
rs1445384427	p.Pro704Ala	missense variant	-	NC_000002.12:g.163609722G>C	TOPMed
rs777054707	p.Leu705Pro	missense variant	-	NC_000002.12:g.163609718A>G	ExAC,gnomAD
rs1257894633	p.Ala707Thr	missense variant	-	NC_000002.12:g.163609713C>T	gnomAD
rs1233798353	p.Met708Ile	missense variant	-	NC_000002.12:g.163609708C>G	gnomAD
rs764322259	p.Pro709Gln	missense variant	-	NC_000002.12:g.163609706G>T	ExAC,gnomAD
rs760697373	p.Asp712Glu	missense variant	-	NC_000002.12:g.163609696G>C	ExAC
NCI-TCGA novel	p.Ser714TyrPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.163609684_163609691AATGGCTG>-	NCI-TCGA
NCI-TCGA novel	p.Ser714Leu	missense variant	-	NC_000002.12:g.163609691G>A	NCI-TCGA
rs772019817	p.Ile716Thr	missense variant	-	NC_000002.12:g.163609685A>G	ExAC,gnomAD
NCI-TCGA novel	p.Met717Ile	missense variant	-	NC_000002.12:g.163609681C>T	NCI-TCGA
rs1377410838	p.Pro718Ser	missense variant	-	NC_000002.12:g.163609680G>A	gnomAD
NCI-TCGA novel	p.Pro718Thr	missense variant	-	NC_000002.12:g.163609680G>T	NCI-TCGA
rs1450081315	p.Gln720Glu	missense variant	-	NC_000002.12:g.163609674G>C	gnomAD
rs749259145	p.Gln720His	missense variant	-	NC_000002.12:g.163609672C>A	ExAC,gnomAD
rs202007179	p.Val724Ile	missense variant	-	NC_000002.12:g.163609662C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs189751107	p.Thr725Ile	missense variant	-	NC_000002.12:g.163609658G>A	1000Genomes,ExAC,gnomAD
rs746525347	p.Tyr726Asp	missense variant	-	NC_000002.12:g.163609656A>C	ExAC,gnomAD
rs1428275047	p.Asp728Tyr	missense variant	-	NC_000002.12:g.163609650C>A	TOPMed
COSM3798107	p.Glu730Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163609644C>T	NCI-TCGA Cosmic
rs757950651	p.Glu730Ala	missense variant	-	NC_000002.12:g.163609643T>G	ExAC,gnomAD
rs751041716	p.Asn731Lys	missense variant	-	NC_000002.12:g.163609639A>T	ExAC,TOPMed,gnomAD
rs765829497	p.Lys735Glu	missense variant	-	NC_000002.12:g.163609629T>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys735Asn	missense variant	-	NC_000002.12:g.163609627C>A	NCI-TCGA
NCI-TCGA novel	p.Ile736Asn	missense variant	-	NC_000002.12:g.163609625A>T	NCI-TCGA
COSM1669341	p.Gln737Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.163609623G>A	NCI-TCGA Cosmic
rs757711551	p.Pro738Ser	missense variant	-	NC_000002.12:g.163609620G>A	ExAC,gnomAD
rs1406319027	p.Ile740Val	missense variant	-	NC_000002.12:g.163609614T>C	TOPMed
rs754188519	p.Ile740Met	missense variant	-	NC_000002.12:g.163609612T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser741Phe	missense variant	-	NC_000002.12:g.163609610G>A	NCI-TCGA
rs919162626	p.Gln742Glu	missense variant	-	NC_000002.12:g.163609608G>C	TOPMed
rs761003542	p.Asp746Val	missense variant	-	NC_000002.12:g.163609595T>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp746His	missense variant	-	NC_000002.12:g.163609596C>G	NCI-TCGA
rs1243240618	p.Met747Val	missense variant	-	NC_000002.12:g.163609593T>C	gnomAD
rs1341910054	p.Met747Thr	missense variant	-	NC_000002.12:g.163609592A>G	gnomAD
NCI-TCGA novel	p.Val749Asp	missense variant	-	NC_000002.12:g.163609586A>T	NCI-TCGA
COSM441331	p.Asn752Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163609576G>C	NCI-TCGA Cosmic
COSM6088147	p.Asn752Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163609576G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys753Arg	missense variant	-	NC_000002.12:g.163609574T>C	NCI-TCGA
rs767702080	p.Met754Ile	missense variant	-	NC_000002.12:g.163609570C>T	ExAC,TOPMed,gnomAD
rs1381196187	p.Gly756Ser	missense variant	-	NC_000002.12:g.163609566C>T	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0152021	Congenital heart disease	group	BEFREE
C0202251	Vitamin B6 measurement	phenotype	GWASDB
C0428580	Vitamin measurement	phenotype	GWASCAT
C0578022	Finding of body mass index	phenotype	GWASCAT
C1305855	Body mass index	phenotype	GWASCAT

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005524	ATP binding	IEA
GO:0008022	protein C-terminus binding	IEA
GO:0008568	microtubule-severing ATPase activity	IBA
GO:0016887	ATPase activity	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0007049	cell cycle	IEA
GO:0010569	regulation of double-strand break repair via homologous recombination	IBA
GO:0031122	cytoplasmic microtubule organization	IBA
GO:0051013	microtubule severing	IEA
GO:0051301	cell division	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	IBA
GO:0005737	cytoplasm	IEA
GO:0005815	microtubule organizing center	IEA
GO:0005874	microtubule	IEA
GO:0016363	nuclear matrix	ISS

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C020175	16 alpha-ethyl-21-hydroxy-19-nor-4-pregnene-3,20-dione	16 alpha-ethyl-21-hydroxy-19-nor-4-pregnene-3,20-dione results in decreased expression of FIGN mRNA	20519331
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in decreased expression of FIGN mRNA	24810058
C548651	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in decreased expression of FIGN mRNA	19933214
C511295	2,2',4,4'-tetrabromodiphenyl ether	2,2',4,4'-tetrabromodiphenyl ether results in decreased expression of FIGN mRNA	25614096
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in increased expression of FIGN mRNA	28973690
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in decreased expression of FIGN mRNA	18648102
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of FIGN mRNA	27188386
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide affects the expression of FIGN mRNA	20382639
C496492	abrine	abrine results in increased expression of FIGN mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in decreased expression of FIGN mRNA	21420995; 29067470;
D000082	Acetaminophen	Acetaminophen affects the expression of FIGN mRNA	17562736
D020106	Acrylamide	Acrylamide results in decreased expression of FIGN mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of FIGN mRNA	21641981
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of FIGN gene	27153756
D000535	Aluminum	[APP protein modified form binds to Aluminum] which results in decreased expression of FIGN mRNA	21298039
D001151	Arsenic	Arsenic affects the methylation of FIGN gene	25304211
D017638	Asbestos, Crocidolite	Asbestos, Crocidolite results in increased expression of FIGN mRNA	18687144
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of FIGN mRNA	22228805
C006703	benzo(b)fluoranthene	benzo(b)fluoranthene results in decreased expression of FIGN mRNA	26377693
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in decreased expression of FIGN mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of FIGN mRNA	30951980
C006780	bisphenol A	[bisphenol A co-treated with Genistein] results in decreased methylation of FIGN gene	28505145
C006780	bisphenol A	[bisphenol A co-treated with Genistein] results in increased methylation of FIGN gene	28505145
C006780	bisphenol A	bisphenol A results in decreased expression of FIGN mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased expression of FIGN mRNA	30816183
C000611646	bisphenol F	bisphenol F results in decreased expression of FIGN mRNA	30951980
C018475	butyraldehyde	butyraldehyde results in decreased expression of FIGN mRNA	26079696
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of FIGN mRNA	31150632
D002251	Carbon Tetrachloride	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of FIGN mRNA]	31150632
D002922	Ciguatoxins	Ciguatoxins affects the expression of FIGN mRNA	18353800
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of FIGN mRNA	27392435
D002945	Cisplatin	Cisplatin results in decreased expression of FIGN mRNA	27392435
D019327	Copper Sulfate	Copper Sulfate results in increased expression of FIGN mRNA	19549813
D016572	Cyclosporine	Cyclosporine results in decreased expression of FIGN mRNA	20106945
D016572	Cyclosporine	Cyclosporine results in increased expression of FIGN mRNA	25562108; 27989131;
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of FIGN mRNA	21266533
D003999	Dichloroacetic Acid	Dichloroacetic Acid results in increased expression of FIGN mRNA	28962523
C024629	dimethyl phthalate	dimethyl phthalate affects the expression of FIGN mRNA	26924002
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of FIGN mRNA	27188386
D004726	Endosulfan	Endosulfan results in decreased expression of FIGN mRNA	29391264
D004958	Estradiol	Estradiol affects the expression of FIGN mRNA	22574217
D017313	Fenretinide	Fenretinide results in decreased expression of FIGN mRNA	28973697
D004397	Fonofos	Fonofos results in increased methylation of FIGN promoter	22847954
D005557	Formaldehyde	Formaldehyde results in decreased expression of FIGN mRNA	20655997
D019833	Genistein	[bisphenol A co-treated with Genistein] results in decreased methylation of FIGN gene	28505145
D019833	Genistein	[bisphenol A co-treated with Genistein] results in increased methylation of FIGN gene	28505145
D019833	Genistein	Genistein results in decreased methylation of FIGN gene	28505145
D019833	Genistein	Genistein results in increased methylation of FIGN gene	28505145
D006861	Hydrogen Peroxide	Hydrogen Peroxide results in decreased expression of FIGN mRNA	26846883
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of FIGN mRNA	27392435
C544151	jinfukang	jinfukang results in decreased expression of FIGN mRNA	27392435
C561695	(+)-JQ1 compound	(+)-JQ1 compound affects the expression of FIGN mRNA	26733615
C561695	(+)-JQ1 compound	(+)-JQ1 compound promotes the reaction [Panobinostat affects the expression of FIGN mRNA]	26733615
C561695	(+)-JQ1 compound	Panobinostat promotes the reaction [(+)-JQ1 compound affects the expression of FIGN mRNA]	26733615
D008558	Melphalan	Melphalan results in decreased expression of FIGN mRNA	22363485
D008727	Methotrexate	Methotrexate results in decreased expression of FIGN mRNA	24657277
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of FIGN mRNA	28001369
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of FIGN mRNA	26011545
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of FIGN mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of FIGN mRNA	25554681
D009532	Nickel	Nickel results in decreased expression of FIGN mRNA	24768652; 25583101;
D010100	Oxygen	[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of FIGN mRNA	30529165
D000077767	Panobinostat	(+)-JQ1 compound promotes the reaction [Panobinostat affects the expression of FIGN mRNA]	26733615
D000077767	Panobinostat	Panobinostat affects the expression of FIGN mRNA	26733615
D000077767	Panobinostat	Panobinostat promotes the reaction [(+)-JQ1 compound affects the expression of FIGN mRNA]	26733615
D010278	Parathion	Parathion results in increased methylation of FIGN promoter	22847954
C046012	pentanal	pentanal results in decreased expression of FIGN mRNA	26079696
D010634	Phenobarbital	Phenobarbital results in decreased expression of FIGN mRNA	23091169
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of FIGN mRNA	22714537
D011285	Pregnenolone Carbonitrile	Pregnenolone Carbonitrile results in decreased expression of FIGN mRNA	28903501
D011441	Propylthiouracil	Propylthiouracil results in increased expression of FIGN mRNA	24780913
D011794	Quercetin	Quercetin results in decreased expression of FIGN mRNA	21632981
D012402	Rotenone	Rotenone results in decreased expression of FIGN mRNA	29955902
D012402	Rotenone	Rotenone results in decreased expression of FIGN mRNA	28374803
C015499	schizandrin B	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of FIGN mRNA]	31150632
D012822	Silicon Dioxide	Silicon Dioxide results in decreased expression of FIGN mRNA	23221170
C012568	terbufos	terbufos results in increased methylation of FIGN promoter	22847954
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of FIGN mRNA	21570461; 26377647;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of FIGN mRNA	19933214; 26290441;
D014212	Tretinoin	Tretinoin results in decreased expression of FIGN mRNA	21934132
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of FIGN mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of FIGN mRNA	24935251; 26272509;
D014260	Triclosan	Triclosan results in decreased expression of FIGN mRNA	30510588
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in increased expression of FIGN mRNA	26179874
D014520	Urethane	Urethane results in decreased expression of FIGN mRNA	28818685
D014635	Valproic Acid	Valproic Acid results in decreased expression of FIGN mRNA	28001369
D014638	Vanadates	Vanadates results in increased expression of FIGN mRNA	22714537
D000077337	Vorinostat	Vorinostat results in increased expression of FIGN mRNA	27188386

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0067	ATP-binding
KW-0131	Cell cycle
KW-0132	Cell division
KW-0963	Cytoplasm
KW-0206	Cytoskeleton
KW-0493	Microtubule
KW-0498	Mitosis
KW-0547	Nucleotide-binding
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR003593	AAA+_ATPase
IPR003959	ATPase_AAA_core
IPR003960	ATPase_AAA_CS
IPR027417	P-loop_NTPase
IPR015415	Vps4_C

PROSITE

PROSITE ID	PROSITE Term
PS00674	AAA

Pfam

Pfam ID	Pfam Term
PF00004	AAA
PF09336	Vps4_C

Gene: FIGN

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

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction