CleftGeneDB-Search

Gene: LUZP1

Basic information

Tag	Content
Uniprot ID	Q86V48; Q5TH93; Q8N4X3; Q8TEH1;
Entrez ID	7798
Genbank protein ID	AAH33219.1; AAH51733.1; BAB84979.1;
Genbank nucleotide ID	XM_017002252.1; XM_011542091.2; NM_033631.3; XM_011542090.2; NM_001142546.1;
Ensembl protein ID	ENSP00000393460; ENSP00000303758; ENSP00000313705;
Ensembl nucleotide ID	ENSG00000169641
Gene name	Leucine zipper protein 1
Gene symbol	LUZP1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description
Sequence	MAEFTSYKET ASSRHLRFKL QSLSRRLDEL EEATKNLQKA EDELLDLQDK VIQAEGSNSS 60 MLAEIEVLRQ RVLRIEGKDE EIKRAEDLCR LMKEKLEEEE NLTRELKSEI ERLQKRMAEL 120 EKLEEAFSRS KNDCTQLCLS LNEERNLTKK ISSELEMLRV KVKELESSED RLDKTEQSLA 180 SELEKLKSLT LSFVSERKYL NEKEKENEKL IKELTQKLEQ NKKMNRDYTR NASNLERNDL 240 RIEDGISSTL PSKESRRKGG LDYLKQVENE TRNKSENEKN RNQEDNKVKD LNQEIEKLKT 300 QIKHFESLEE ELKKMKSKNN DLQDNYLSEQ NKNKLLASQL EEIKLQIKKQ KELENGEVEG 360 EDAFLSSKGR HERTKFRGHG SEASVSKHTA RELSPQHKRE RLRNREFALN NENYSLSNRQ 420 VSSPSFTNRR AAKASHMGVS TDSGTQETKK TEDRFVPGSS QSEGKKSREQ PSVLSRYPPA 480 AQEHSKAWKG TSKPGTESGL KGKVEKTTRT FSDTTHGSVP SDPLGRADKA SDTSSETVFG 540 KRGHVLGNGS QVTQAANSGC SKAIGALASS RRSSSEGLSK GKKAANGLEA DNSCPNSKAP 600 VLSKYPYSCR SQENILQGFS TSHKEGVNQP AAVVMEDSSP HEALRCRVIK SSGREKPDSD 660 DDLDIASLVT AKLVNTTITP EPEPKPQPNS REKAKTRGAP RTSLFENDKD AGMENESVKS 720 VRASTNTMEL PDTNGAGVKS QRPFSPREAL RSRAIIKPVI VDKDVKKIMG GSGTETTLEK 780 QKPVSKPGPN KVTSSITIYP SDSSSPRAAP GEALRERHTS TSNIQVGLAE LTSVSNHVSS 840 PFELSIHKHD ITLQLAEAER MADGPLKDRP ETVVSRSSII IKPSDPVERN SHAPPAETIR 900 WKSHSAPSEV GFSDARHVTV RNAWKSRRDL KSLEDPPTRI GKNVESTNSN AYTQRSSTDF 960 SELEQPRSCL FEQGTRRVGP SSGDAPEPSS RRTQSSLTVS EVLTRRNRVG DTITVAAWNH 1020 SASMEEEGED CTLSVYRQLH NSLDPSELPG KQGLPESGRV RAEERLRPTR PCAEEN 1076

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	LUZP1	100684994	A0A5F4CYC6		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	LUZP1		A0A452GA43		Capra hircus	Prediction	More>>
1:1 ortholog	LUZP1	7798	Q86V48		Homo sapiens	Prediction	More>>
1:1 ortholog	Luzp1	269593	Q8R4U7	CPO	Mus musculus	Publication	More>>
1:1 ortholog	LUZP1	469217	A0A2I3RPT2		Pan troglodytes	Prediction	More>>
1:1 ortholog	LUZP1	100620499	I3LNF8		Sus scrofa	Prediction	More>>
1:1 ortholog	Luzp1	79428	G3V7L9		Rattus norvegicus	Prediction	More>>
1:1 ortholog	luzp1	558606	X1WFU1		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1268476056	p.Ala2Asp	missense variant	-	NC_000001.11:g.23094257G>T	TOPMed
rs778790707	p.Ala2Thr	missense variant	-	NC_000001.11:g.23094258C>T	ExAC,TOPMed,gnomAD
rs749251494	p.Glu3Lys	missense variant	-	NC_000001.11:g.23094255C>T	NCI-TCGA
rs749251494	p.Glu3Lys	missense variant	-	NC_000001.11:g.23094255C>T	ExAC,gnomAD
NCI-TCGA novel	p.Phe4Leu	missense variant	-	NC_000001.11:g.23094252A>G	NCI-TCGA
rs1272059669	p.Thr5Pro	missense variant	-	NC_000001.11:g.23094249T>G	TOPMed
rs777913448	p.Ser6Arg	missense variant	-	NC_000001.11:g.23094244G>C	ExAC,gnomAD
rs755678779	p.Lys8Arg	missense variant	-	NC_000001.11:g.23094239T>C	ExAC,gnomAD
rs890495596	p.Glu9Ala	missense variant	-	NC_000001.11:g.23094236T>G	TOPMed
rs1021263102	p.Thr10Pro	missense variant	-	NC_000001.11:g.23094234T>G	TOPMed,gnomAD
rs551821811	p.Thr10Met	missense variant	-	NC_000001.11:g.23094233G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs368769736	p.Ala11Val	missense variant	-	NC_000001.11:g.23094230G>A	ESP,ExAC,TOPMed,gnomAD
rs750709588	p.Ser12Cys	missense variant	-	NC_000001.11:g.23094227G>C	ExAC,TOPMed,gnomAD
rs762252839	p.Arg14Leu	missense variant	-	NC_000001.11:g.23094221C>A	ExAC,gnomAD
rs765642302	p.Arg14Cys	missense variant	-	NC_000001.11:g.23094222G>A	ExAC,TOPMed,gnomAD
COSM282587	p.Arg14His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23094221C>T	NCI-TCGA Cosmic
rs1180030283	p.His15Pro	missense variant	-	NC_000001.11:g.23094218T>G	gnomAD
rs775688967	p.Arg17Leu	missense variant	-	NC_000001.11:g.23094212C>A	ExAC,TOPMed,gnomAD
rs775688967	p.Arg17Gln	missense variant	-	NC_000001.11:g.23094212C>T	ExAC,TOPMed,gnomAD
rs760716379	p.Arg17Gly	missense variant	-	NC_000001.11:g.23094213G>C	ExAC,TOPMed,gnomAD
rs760716379	p.Arg17Trp	missense variant	-	NC_000001.11:g.23094213G>A	ExAC,TOPMed,gnomAD
rs772136562	p.Phe18Leu	missense variant	-	NC_000001.11:g.23094208A>C	ExAC,gnomAD
rs746106246	p.Leu20Val	missense variant	-	NC_000001.11:g.23094204G>C	ExAC,TOPMed,gnomAD
rs370488038	p.Arg25Cys	missense variant	-	NC_000001.11:g.23094189G>A	ESP,ExAC,TOPMed,gnomAD
rs376235918	p.Arg25His	missense variant	-	NC_000001.11:g.23094188C>T	NCI-TCGA,NCI-TCGA Cosmic
rs376235918	p.Arg25His	missense variant	-	NC_000001.11:g.23094188C>T	ESP,ExAC,TOPMed,gnomAD
rs376235918	p.Arg25Leu	missense variant	-	NC_000001.11:g.23094188C>A	ESP,ExAC,TOPMed,gnomAD
rs370488038	p.Arg25Cys	missense variant	-	NC_000001.11:g.23094189G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1235056800	p.Arg26Cys	missense variant	-	NC_000001.11:g.23094186G>A	NCI-TCGA Cosmic
rs756166621	p.Arg26His	missense variant	-	NC_000001.11:g.23094185C>T	ExAC,TOPMed,gnomAD
rs1235056800	p.Arg26Cys	missense variant	-	NC_000001.11:g.23094186G>A	gnomAD
rs756166621	p.Arg26His	missense variant	-	NC_000001.11:g.23094185C>T	NCI-TCGA
rs747559732	p.Asp28Gly	missense variant	-	NC_000001.11:g.23094179T>C	ExAC,TOPMed,gnomAD
COSM905748	p.Asp28Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23094180C>A	NCI-TCGA Cosmic
rs751241222	p.Leu30Trp	missense variant	-	NC_000001.11:g.23094173A>C	ExAC,gnomAD
rs78627529	p.Glu32Lys	missense variant	-	NC_000001.11:g.23094168C>T	ExAC,gnomAD
rs901330271	p.Ala33Thr	missense variant	-	NC_000001.11:g.23094165C>T	TOPMed,gnomAD
rs533244242	p.Lys35Glu	missense variant	-	NC_000001.11:g.23094159T>C	NCI-TCGA
rs533244242	p.Lys35Glu	missense variant	-	NC_000001.11:g.23094159T>C	1000Genomes,ExAC,gnomAD
rs139445275	p.Lys35Asn	missense variant	-	NC_000001.11:g.23094157T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn36ThrPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.23094155T>-	NCI-TCGA
rs1173453944	p.Asn36Thr	missense variant	-	NC_000001.11:g.23094155T>G	TOPMed,gnomAD
rs1173453944	p.Asn36Ile	missense variant	-	NC_000001.11:g.23094155T>A	TOPMed,gnomAD
rs1377398806	p.Gln38Arg	missense variant	-	NC_000001.11:g.23094149T>C	gnomAD
rs1216975470	p.Gln38Glu	missense variant	-	NC_000001.11:g.23094150G>C	TOPMed
NCI-TCGA novel	p.Glu43Gly	missense variant	-	NC_000001.11:g.23094134T>C	NCI-TCGA
rs1259126305	p.Gln48Arg	missense variant	-	NC_000001.11:g.23094119T>C	gnomAD
rs373256685	p.Asp49Asn	missense variant	-	NC_000001.11:g.23094117C>T	ESP,ExAC,TOPMed,gnomAD
rs1255153975	p.Lys50Glu	missense variant	-	NC_000001.11:g.23094114T>C	gnomAD
rs1348361752	p.Gln53Pro	missense variant	-	NC_000001.11:g.23094104T>G	TOPMed
COSM3485471	p.Glu55Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23094099C>T	NCI-TCGA Cosmic
rs1345919591	p.Ser60Gly	missense variant	-	NC_000001.11:g.23094084T>C	gnomAD
rs771317525	p.Met61Thr	missense variant	-	NC_000001.11:g.23094080A>G	ExAC,gnomAD
rs762816399	p.Ala63Val	missense variant	-	NC_000001.11:g.23094074G>A	ExAC,gnomAD
rs769810420	p.Ile65Thr	missense variant	-	NC_000001.11:g.23094068A>G	ExAC,gnomAD
rs1312603022	p.Val67Met	missense variant	-	NC_000001.11:g.23094063C>T	gnomAD
rs748116830	p.Leu68Gln	missense variant	-	NC_000001.11:g.23094059A>T	ExAC,gnomAD
rs889846355	p.Arg69Cys	missense variant	-	NC_000001.11:g.23094057G>A	gnomAD
rs1168834878	p.Arg69His	missense variant	-	NC_000001.11:g.23094056C>T	gnomAD
rs377259906	p.Arg71Gln	missense variant	-	NC_000001.11:g.23094050C>T	ESP,ExAC,TOPMed,gnomAD
rs536365038	p.Arg71Trp	missense variant	-	NC_000001.11:g.23094051G>A	ExAC,gnomAD
rs1332199507	p.Val72Leu	missense variant	-	NC_000001.11:g.23094048C>A	TOPMed
rs746570470	p.Ile75Thr	missense variant	-	NC_000001.11:g.23094038A>G	ExAC,gnomAD
rs1424273518	p.Glu76Asp	missense variant	-	NC_000001.11:g.23094034T>A	TOPMed,gnomAD
rs779652593	p.Gly77Ala	missense variant	-	NC_000001.11:g.23094032C>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys78Glu	missense variant	-	NC_000001.11:g.23094030T>C	NCI-TCGA
rs758097272	p.Lys78Asn	missense variant	-	NC_000001.11:g.23094028T>A	ExAC,TOPMed,gnomAD
rs1206115555	p.Glu81Ala	missense variant	-	NC_000001.11:g.23094020T>G	gnomAD
COSM4029686	p.Lys83Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23094014T>A	NCI-TCGA Cosmic
rs560811130	p.Arg90His	missense variant	-	NC_000001.11:g.23093993C>T	1000Genomes,ExAC,gnomAD
rs267598422	p.Arg90Cys	missense variant	-	NC_000001.11:g.23093994G>A	ExAC,TOPMed,gnomAD
rs753233913	p.Leu91Val	missense variant	-	NC_000001.11:g.23093991G>C	ExAC,gnomAD
rs192209530	p.Met92Leu	missense variant	-	NC_000001.11:g.23093988T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1413547291	p.Lys95Arg	missense variant	-	NC_000001.11:g.23093978T>C	gnomAD
rs751735304	p.Glu98Asp	missense variant	-	NC_000001.11:g.23093968C>G	ExAC,gnomAD
rs763296438	p.Asn101Ser	missense variant	-	NC_000001.11:g.23093960T>C	ExAC,gnomAD
rs1183423675	p.Asn101Lys	missense variant	-	NC_000001.11:g.23093959G>C	TOPMed
rs1164426264	p.Leu102Val	missense variant	-	NC_000001.11:g.23093958G>C	gnomAD
rs761574523	p.Arg104Gln	missense variant	-	NC_000001.11:g.23093951C>T	ExAC,gnomAD
rs769728664	p.Arg104Trp	missense variant	-	NC_000001.11:g.23093952G>A	ExAC,TOPMed,gnomAD
rs769728664	p.Arg104Gly	missense variant	-	NC_000001.11:g.23093952G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys107Glu	missense variant	-	NC_000001.11:g.23093943T>C	NCI-TCGA
rs768518468	p.Glu109Gly	missense variant	-	NC_000001.11:g.23093936T>C	ExAC,gnomAD
rs1180865136	p.Ile110Val	missense variant	-	NC_000001.11:g.23093934T>C	gnomAD
rs1437416104	p.Ile110Thr	missense variant	-	NC_000001.11:g.23093933A>G	gnomAD
rs746508122	p.Glu111Gln	missense variant	-	NC_000001.11:g.23093931C>G	ExAC,gnomAD
rs1211647543	p.Glu111Val	missense variant	-	NC_000001.11:g.23093930T>A	gnomAD
rs771673829	p.Arg112Trp	missense variant	-	NC_000001.11:g.23093928G>A	ExAC,TOPMed,gnomAD
rs745524128	p.Arg112Gln	missense variant	-	NC_000001.11:g.23093927C>T	ExAC,TOPMed,gnomAD
rs756496173	p.Gln114His	missense variant	-	NC_000001.11:g.23093920C>G	ExAC,gnomAD
rs778593622	p.Gln114Ter	stop gained	-	NC_000001.11:g.23093922G>A	ExAC,gnomAD
rs149397570	p.Arg116Leu	missense variant	-	NC_000001.11:g.23093915C>A	ESP,ExAC,TOPMed,gnomAD
rs149397570	p.Arg116Gln	missense variant	-	NC_000001.11:g.23093915C>T	ESP,ExAC,TOPMed,gnomAD
rs748500182	p.Arg116Ter	stop gained	-	NC_000001.11:g.23093916G>A	ExAC,gnomAD
rs766568101	p.Glu121Gln	missense variant	-	NC_000001.11:g.23093901C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu121Ter	stop gained	-	NC_000001.11:g.23093901C>A	NCI-TCGA
rs1393063982	p.Glu124Ala	missense variant	-	NC_000001.11:g.23093891T>G	gnomAD
rs1458716616	p.Ala126Asp	missense variant	-	NC_000001.11:g.23093885G>T	gnomAD
rs1412652796	p.Phe127Leu	missense variant	-	NC_000001.11:g.23093881G>T	TOPMed,gnomAD
rs750665246	p.Lys131Arg	missense variant	-	NC_000001.11:g.23093870T>C	ExAC,TOPMed,gnomAD
rs1468414898	p.Asn132Ser	missense variant	-	NC_000001.11:g.23093867T>C	gnomAD
rs765448028	p.Cys134Ser	missense variant	-	NC_000001.11:g.23093861C>G	ExAC,TOPMed,gnomAD
rs1201266078	p.Thr135Ile	missense variant	-	NC_000001.11:g.23093858G>A	gnomAD
rs776342041	p.Cys138Tyr	missense variant	-	NC_000001.11:g.23093849C>T	ExAC,gnomAD
rs1211924449	p.Cys138Ser	missense variant	-	NC_000001.11:g.23093850A>T	gnomAD
NCI-TCGA novel	p.Leu141Arg	missense variant	-	NC_000001.11:g.23093840A>C	NCI-TCGA
rs1160293624	p.Asn146Tyr	missense variant	-	NC_000001.11:g.23093826T>A	TOPMed
rs968797680	p.Thr148Ser	missense variant	-	NC_000001.11:g.23093819G>C	TOPMed
rs988934298	p.Ile151Met	missense variant	-	NC_000001.11:g.23093809G>C	TOPMed,gnomAD
rs374674969	p.Ser152Ala	missense variant	-	NC_000001.11:g.23093808A>C	ESP,ExAC,TOPMed,gnomAD
rs1463436244	p.Met157Val	missense variant	-	NC_000001.11:g.23093793T>C	TOPMed
rs1436716822	p.Arg159Gly	missense variant	-	NC_000001.11:g.23093787T>C	gnomAD
rs1320924945	p.Lys163Arg	missense variant	-	NC_000001.11:g.23093774T>C	TOPMed
COSM1340260	p.Glu164Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.23093772C>A	NCI-TCGA Cosmic
rs748493107	p.Arg171Cys	missense variant	-	NC_000001.11:g.23093751G>A	ExAC,TOPMed,gnomAD
rs781437738	p.Arg171His	missense variant	-	NC_000001.11:g.23093750C>T	ExAC,gnomAD
rs755442177	p.Asp173Tyr	missense variant	-	NC_000001.11:g.23093745C>A	ExAC,gnomAD
rs1426982542	p.Ser178Asn	missense variant	-	NC_000001.11:g.23093729C>T	gnomAD
rs184936612	p.Leu179Ser	missense variant	-	NC_000001.11:g.23093726A>G	1000Genomes,ExAC,gnomAD
rs1454835098	p.Ala180Val	missense variant	-	NC_000001.11:g.23093723G>A	TOPMed,gnomAD
rs758551781	p.Glu182Lys	missense variant	-	NC_000001.11:g.23093718C>T	ExAC,gnomAD
rs1242831261	p.Lys185Gln	missense variant	-	NC_000001.11:g.23093709T>G	gnomAD
rs1445812651	p.Leu186Val	missense variant	-	NC_000001.11:g.23093706G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Ser188Ter	stop gained	-	NC_000001.11:g.23093699G>T	NCI-TCGA
rs765477979	p.Val194Ile	missense variant	-	NC_000001.11:g.23093682C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser195ArgPheSerTerUnk	frameshift	-	NC_000001.11:g.23093677_23093680ACTT>-	NCI-TCGA
rs1230248794	p.Lys198Arg	missense variant	-	NC_000001.11:g.23093669T>C	gnomAD
NCI-TCGA novel	p.Tyr199Ter	frameshift	-	NC_000001.11:g.23093659_23093666ATTCAAGT>-	NCI-TCGA
rs1018070257	p.Leu200Phe	missense variant	-	NC_000001.11:g.23093662C>G	TOPMed
rs763802404	p.Asn201Ile	missense variant	-	NC_000001.11:g.23093660T>A	ExAC,TOPMed,gnomAD
rs763802404	p.Asn201Thr	missense variant	-	NC_000001.11:g.23093660T>G	ExAC,TOPMed,gnomAD
rs760549220	p.Glu202Ter	stop gained	-	NC_000001.11:g.23093658C>A	ExAC,gnomAD
rs1447152644	p.Glu204Gln	missense variant	-	NC_000001.11:g.23093652C>G	TOPMed
rs1334498312	p.Lys205Arg	missense variant	-	NC_000001.11:g.23093648T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Glu206Ter	stop gained	-	NC_000001.11:g.23093646C>A	NCI-TCGA
COSM4390271	p.Glu206Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23093646C>G	NCI-TCGA Cosmic
rs767482269	p.Asn207Ser	missense variant	-	NC_000001.11:g.23093642T>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu208Asp	missense variant	-	NC_000001.11:g.23093638C>A	NCI-TCGA
rs773754332	p.Glu208Lys	missense variant	-	NC_000001.11:g.23093640C>T	ExAC,TOPMed,gnomAD
rs1451611394	p.Ile211Leu	missense variant	-	NC_000001.11:g.23093631T>G	gnomAD
rs770575047	p.Ile211Thr	missense variant	-	NC_000001.11:g.23093630A>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu213Ter	stop gained	-	NC_000001.11:g.23093625C>A	NCI-TCGA
rs1474686852	p.Glu213Ala	missense variant	-	NC_000001.11:g.23093624T>G	gnomAD
rs138186722	p.Leu214Val	missense variant	-	NC_000001.11:g.23093622G>C	ESP,ExAC,gnomAD
rs1211966720	p.Leu218Arg	missense variant	-	NC_000001.11:g.23093609A>C	TOPMed,gnomAD
rs768886211	p.Asn221Lys	missense variant	-	NC_000001.11:g.23093599G>T	ExAC
rs1485547474	p.Lys222Glu	missense variant	-	NC_000001.11:g.23093598T>C	gnomAD
rs535181312	p.Lys223Glu	missense variant	-	NC_000001.11:g.23093595T>C	1000Genomes
COSM1639752	p.Met224Ter	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.23093592T>-	NCI-TCGA Cosmic
rs1223578015	p.Asn225His	missense variant	-	NC_000001.11:g.23093589T>G	TOPMed
rs954113638	p.Arg226Gln	missense variant	-	NC_000001.11:g.23093585C>T	TOPMed,gnomAD
rs747448041	p.Arg226Ter	stop gained	-	NC_000001.11:g.23093586G>A	ExAC,TOPMed,gnomAD
rs747448041	p.Arg226Gly	missense variant	-	NC_000001.11:g.23093586G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp227Glu	missense variant	-	NC_000001.11:g.23093581A>C	NCI-TCGA
rs1294172425	p.Thr229Ala	missense variant	-	NC_000001.11:g.23093577T>C	gnomAD
rs780679864	p.Thr229Ile	missense variant	-	NC_000001.11:g.23093576G>A	ExAC,gnomAD
rs772757233	p.Asn231Ile	missense variant	-	NC_000001.11:g.23093570T>A	ExAC,gnomAD
rs1226225628	p.Ser233Phe	missense variant	-	NC_000001.11:g.23093564G>A	TOPMed
rs1414150075	p.Leu235Met	missense variant	-	NC_000001.11:g.23093559G>T	gnomAD
rs567867516	p.Arg241Trp	missense variant	-	NC_000001.11:g.23093541G>A	1000Genomes,ExAC,gnomAD
rs1309663192	p.Ile242Met	missense variant	-	NC_000001.11:g.23093536A>C	gnomAD
rs778892208	p.Glu243Lys	missense variant	-	NC_000001.11:g.23093535C>T	ExAC,gnomAD
rs757435824	p.Gly245Ser	missense variant	-	NC_000001.11:g.23093529C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly245Arg	missense variant	-	NC_000001.11:g.23093529C>G	NCI-TCGA
rs754019634	p.Ser247Phe	missense variant	-	NC_000001.11:g.23093522G>A	ExAC,gnomAD
rs907098324	p.Ser248Phe	missense variant	-	NC_000001.11:g.23093519G>A	TOPMed,gnomAD
rs755871670	p.Thr249Ile	missense variant	-	NC_000001.11:g.23093516G>A	ExAC,TOPMed,gnomAD
rs751013038	p.Pro251Gln	missense variant	-	NC_000001.11:g.23093510G>T	ExAC,TOPMed,gnomAD
rs751013038	p.Pro251Leu	missense variant	-	NC_000001.11:g.23093510G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser252Pro	missense variant	-	NC_000001.11:g.23093508A>G	NCI-TCGA
rs1480720555	p.Glu254Asp	missense variant	-	NC_000001.11:g.23093500T>A	gnomAD
rs895456683	p.Ser255Ter	stop gained	-	NC_000001.11:g.23093498G>C	TOPMed
NCI-TCGA novel	p.Arg256Ile	missense variant	-	NC_000001.11:g.23093495C>A	NCI-TCGA
rs148874653	p.Arg257Lys	missense variant	-	NC_000001.11:g.23093492C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys258Asn	missense variant	-	NC_000001.11:g.23093488C>A	NCI-TCGA
rs1322981005	p.Lys258Asn	missense variant	-	NC_000001.11:g.23093488C>G	TOPMed,gnomAD
rs769615018	p.Gly259Ala	missense variant	-	NC_000001.11:g.23093486C>G	ExAC,gnomAD
rs769615018	p.Gly259Asp	missense variant	-	NC_000001.11:g.23093486C>T	ExAC,gnomAD
rs1232568675	p.Gly260Ala	missense variant	-	NC_000001.11:g.23093483C>G	gnomAD
COSM4393149	p.Leu261Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23093481G>T	NCI-TCGA Cosmic
rs1332622135	p.Asp262Val	missense variant	-	NC_000001.11:g.23093477T>A	gnomAD
NCI-TCGA novel	p.Tyr263Ter	stop gained	-	NC_000001.11:g.23093473G>C	NCI-TCGA
rs761100989	p.Lys265Asn	missense variant	-	NC_000001.11:g.23093467C>A	ExAC,gnomAD
rs1391775738	p.Val267Glu	missense variant	-	NC_000001.11:g.23093462A>T	gnomAD
COSM4390299	p.Glu268Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23093460C>T	NCI-TCGA Cosmic
rs140949865	p.Asn269Asp	missense variant	-	NC_000001.11:g.23093457T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1396762906	p.Glu270Lys	missense variant	-	NC_000001.11:g.23093454C>T	gnomAD
rs772669241	p.Thr271Ile	missense variant	-	NC_000001.11:g.23093450G>A	ExAC,gnomAD
rs746368166	p.Asn273Lys	missense variant	-	NC_000001.11:g.23093443G>C	ExAC,gnomAD
rs139773081	p.Ser275Pro	missense variant	-	NC_000001.11:g.23093439A>G	ESP,ExAC,TOPMed,gnomAD
COSM3485470	p.Ser275Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23093438G>A	NCI-TCGA Cosmic
rs1455691548	p.Glu278Lys	missense variant	-	NC_000001.11:g.23093430C>T	gnomAD
COSM425618	p.Asn280Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23093422G>C	NCI-TCGA Cosmic
rs749424632	p.Arg281His	missense variant	-	NC_000001.11:g.23093420C>T	ExAC,TOPMed,gnomAD
rs142425004	p.Arg281Cys	missense variant	-	NC_000001.11:g.23093421G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs202165883	p.Asn282Thr	missense variant	-	NC_000001.11:g.23093417T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs202165883	p.Asn282Ser	missense variant	-	NC_000001.11:g.23093417T>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln283Ter	stop gained	-	NC_000001.11:g.23093415G>A	NCI-TCGA
rs1209251376	p.Glu284Lys	missense variant	-	NC_000001.11:g.23093412C>T	gnomAD
rs1203257385	p.Lys287Arg	missense variant	-	NC_000001.11:g.23093402T>C	TOPMed
rs368562864	p.Val288Ala	missense variant	-	NC_000001.11:g.23093399A>G	ESP,ExAC,TOPMed,gnomAD
rs368562864	p.Val288Asp	missense variant	-	NC_000001.11:g.23093399A>T	ESP,ExAC,TOPMed,gnomAD
rs1253035115	p.Leu291Arg	missense variant	-	NC_000001.11:g.23093390A>C	gnomAD
rs780967298	p.Gln293Pro	missense variant	-	NC_000001.11:g.23093384T>G	ExAC,gnomAD
rs754848885	p.Ile295Thr	missense variant	-	NC_000001.11:g.23093378A>G	ExAC,gnomAD
rs1239770340	p.Lys297Asn	missense variant	-	NC_000001.11:g.23093371T>A	gnomAD
rs1269949537	p.Lys297Thr	missense variant	-	NC_000001.11:g.23093372T>G	gnomAD
rs1304077594	p.Leu298Phe	missense variant	-	NC_000001.11:g.23093370G>A	TOPMed
rs1220134504	p.Thr300Ala	missense variant	-	NC_000001.11:g.23093364T>C	TOPMed
rs751433880	p.Thr300Ile	missense variant	-	NC_000001.11:g.23093363G>A	ExAC,TOPMed,gnomAD
rs1373509100	p.Ile302Val	missense variant	-	NC_000001.11:g.23093358T>C	gnomAD
rs1216981195	p.Lys303Arg	missense variant	-	NC_000001.11:g.23093354T>C	gnomAD
rs770246778	p.His304Arg	missense variant	-	NC_000001.11:g.23093351T>C	TOPMed,gnomAD
rs764936814	p.Ser307Leu	missense variant	-	NC_000001.11:g.23093342G>A	ExAC,gnomAD
rs775931189	p.Glu310Lys	missense variant	-	NC_000001.11:g.23093334C>T	ExAC,gnomAD
rs1454804424	p.Glu310Ala	missense variant	-	NC_000001.11:g.23093333T>G	TOPMed,gnomAD
rs1357320634	p.Glu311Lys	missense variant	-	NC_000001.11:g.23093331C>T	TOPMed
rs533401752	p.Lys314Glu	missense variant	-	NC_000001.11:g.23093322T>C	1000Genomes,ExAC,gnomAD
rs1178106649	p.Met315Thr	missense variant	-	NC_000001.11:g.23093318A>G	TOPMed
rs559544381	p.Met315Ile	missense variant	-	NC_000001.11:g.23093317C>T	1000Genomes,ExAC,gnomAD
rs12091554	p.Ser317Ala	missense variant	-	NC_000001.11:g.23093313A>C	UniProt,dbSNP
VAR_056932	p.Ser317Ala	missense variant	-	NC_000001.11:g.23093313A>C	UniProt
rs12091554	p.Ser317Ala	missense variant	-	NC_000001.11:g.23093313A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys318Thr	missense variant	-	NC_000001.11:g.23093309T>G	NCI-TCGA
rs773309233	p.Asp321Gly	missense variant	-	NC_000001.11:g.23093300T>C	ExAC
rs148009756	p.Asp321Asn	missense variant	-	NC_000001.11:g.23093301C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1473659016	p.Gln323Arg	missense variant	-	NC_000001.11:g.23093294T>C	TOPMed
rs769933890	p.Asp324Tyr	missense variant	-	NC_000001.11:g.23093292C>A	ExAC,gnomAD
rs1251535609	p.Tyr326Cys	missense variant	-	NC_000001.11:g.23093285T>C	TOPMed
rs974746669	p.Leu327Ile	missense variant	-	NC_000001.11:g.23093283G>T	TOPMed
rs374473556	p.Ser328Gly	missense variant	-	NC_000001.11:g.23093280T>C	ESP,ExAC,TOPMed,gnomAD
rs374473556	p.Ser328Arg	missense variant	-	NC_000001.11:g.23093280T>G	ESP,ExAC,TOPMed,gnomAD
rs1018603810	p.Gln330Arg	missense variant	-	NC_000001.11:g.23093273T>C	TOPMed
COSM679019	p.Asn331His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23093271T>G	NCI-TCGA Cosmic
rs961734965	p.Asn333Ser	missense variant	-	NC_000001.11:g.23093264T>C	gnomAD
NCI-TCGA novel	p.Ala337Ser	missense variant	-	NC_000001.11:g.23093253C>A	NCI-TCGA
rs1212004381	p.Ala337Thr	missense variant	-	NC_000001.11:g.23093253C>T	gnomAD
rs140301548	p.Leu340Val	missense variant	-	NC_000001.11:g.23093244G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1266620372	p.Ile343Leu	missense variant	-	NC_000001.11:g.23093235T>G	TOPMed
COSM5228098	p.Ile343LysPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.23093233_23093234TA>-	NCI-TCGA Cosmic
rs746864098	p.Leu345Pro	missense variant	-	NC_000001.11:g.23093228A>G	ExAC,gnomAD
rs1230624769	p.Gln346Arg	missense variant	-	NC_000001.11:g.23093225T>C	TOPMed
rs779838081	p.Gln346His	missense variant	-	NC_000001.11:g.23093224T>G	ExAC,gnomAD
NCI-TCGA novel	p.Gln350His	missense variant	-	NC_000001.11:g.23093212C>A	NCI-TCGA
NCI-TCGA novel	p.Leu353Ter	stop gained	-	NC_000001.11:g.23093204A>C	NCI-TCGA
NCI-TCGA novel	p.Leu353GlyPheSerTerUnk	frameshift	-	NC_000001.11:g.23093206_23093207insCT	NCI-TCGA
NCI-TCGA novel	p.Glu357Lys	missense variant	-	NC_000001.11:g.23093193C>T	NCI-TCGA
NCI-TCGA novel	p.Val358Ile	missense variant	-	NC_000001.11:g.23093190C>T	NCI-TCGA
rs758385409	p.Gly360Glu	missense variant	-	NC_000001.11:g.23093183C>T	ExAC,gnomAD
rs1307303812	p.Gly360Arg	missense variant	-	NC_000001.11:g.23093184C>G	TOPMed
rs200491542	p.Glu361Gly	missense variant	-	NC_000001.11:g.23093180T>C	1000Genomes
rs749863459	p.Ala363Asp	missense variant	-	NC_000001.11:g.23093174G>T	ExAC,gnomAD
rs1395134228	p.Leu365Pro	missense variant	-	NC_000001.11:g.23093168A>G	TOPMed
rs1287423296	p.Gly369Asp	missense variant	-	NC_000001.11:g.23093156C>T	TOPMed,gnomAD
rs1384896402	p.Gly369Ser	missense variant	-	NC_000001.11:g.23093157C>T	gnomAD
rs756914509	p.Arg370Gly	missense variant	-	NC_000001.11:g.23093154T>C	ExAC,TOPMed,gnomAD
rs1452244292	p.Arg373Ser	missense variant	-	NC_000001.11:g.23093143C>G	gnomAD
rs367566694	p.Arg373Gly	missense variant	-	NC_000001.11:g.23093145T>C	ESP,ExAC,TOPMed,gnomAD
rs759796311	p.His379Tyr	missense variant	-	NC_000001.11:g.23093127G>A	ExAC,gnomAD
rs766753223	p.His379Gln	missense variant	-	NC_000001.11:g.23093125G>C	ExAC,TOPMed,gnomAD
rs763518944	p.Gly380Arg	missense variant	-	NC_000001.11:g.23093124C>T	ExAC,TOPMed,gnomAD
rs1202173142	p.Gly380Glu	missense variant	-	NC_000001.11:g.23093123C>T	gnomAD
rs1485868260	p.Glu382Ala	missense variant	-	NC_000001.11:g.23093117T>G	gnomAD
rs1279402081	p.Ala383Pro	missense variant	-	NC_000001.11:g.23093115C>G	gnomAD
rs769848698	p.Ser384Phe	missense variant	-	NC_000001.11:g.23093111G>A	ExAC,gnomAD
rs748289274	p.Val385Met	missense variant	-	NC_000001.11:g.23093109C>T	ExAC,TOPMed,gnomAD
rs563641084	p.Val385Ala	missense variant	-	NC_000001.11:g.23093108A>G	1000Genomes,ExAC,gnomAD
rs148239864	p.Ser386Phe	missense variant	-	NC_000001.11:g.23093105G>A	ESP,TOPMed
rs747472636	p.Lys387Arg	missense variant	-	NC_000001.11:g.23093102T>C	TOPMed,gnomAD
rs768975742	p.His388Arg	missense variant	-	NC_000001.11:g.23093099T>C	ExAC,gnomAD
rs544676272	p.Ala390Val	missense variant	-	NC_000001.11:g.23093093G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs745815650	p.Arg391Trp	missense variant	-	NC_000001.11:g.23093091G>A	ExAC,gnomAD
rs779054615	p.Arg391Gln	missense variant	-	NC_000001.11:g.23093090C>T	ExAC,gnomAD
rs1461039250	p.Glu392Lys	missense variant	-	NC_000001.11:g.23093088C>T	TOPMed,gnomAD
rs1370898687	p.Leu393Met	missense variant	-	NC_000001.11:g.23093085G>T	TOPMed,gnomAD
rs1370898687	p.Leu393Val	missense variant	-	NC_000001.11:g.23093085G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Ser394Pro	missense variant	-	NC_000001.11:g.23093082A>G	NCI-TCGA
rs753440754	p.Gln396His	missense variant	-	NC_000001.11:g.23093074C>A	ExAC,gnomAD
rs756822982	p.Gln396Arg	missense variant	-	NC_000001.11:g.23093075T>C	ExAC,gnomAD
rs756822982	p.Gln396Pro	missense variant	-	NC_000001.11:g.23093075T>G	ExAC,gnomAD
rs140498746	p.His397Arg	missense variant	-	NC_000001.11:g.23093072T>C	ESP,ExAC,gnomAD
rs140498746	p.His397Leu	missense variant	-	NC_000001.11:g.23093072T>A	ESP,ExAC,gnomAD
rs376982587	p.Arg399Gln	missense variant	-	NC_000001.11:g.23093066C>T	ESP,ExAC,TOPMed,gnomAD
rs755822569	p.Arg399Trp	missense variant	-	NC_000001.11:g.23093067G>A	ExAC,TOPMed,gnomAD
rs1243597738	p.Glu400Val	missense variant	-	NC_000001.11:g.23093063T>A	TOPMed
rs369398324	p.Arg401Gln	missense variant	-	NC_000001.11:g.23093060C>T	ESP,ExAC,TOPMed,gnomAD
rs1454162875	p.Arg401Ter	stop gained	-	NC_000001.11:g.23093061G>A	-
rs371689592	p.Arg403Trp	missense variant	-	NC_000001.11:g.23093055G>A	ESP,ExAC,TOPMed,gnomAD
rs765769791	p.Arg403Gln	missense variant	-	NC_000001.11:g.23093054C>T	ExAC,gnomAD
rs1413338421	p.Glu406Lys	missense variant	-	NC_000001.11:g.23093046C>T	gnomAD
rs1337970417	p.Phe407Cys	missense variant	-	NC_000001.11:g.23093042A>C	gnomAD
rs760959640	p.Asn410Ser	missense variant	-	NC_000001.11:g.23093033T>C	ExAC,gnomAD
rs775091805	p.Asn411Ser	missense variant	-	NC_000001.11:g.23093030T>C	ExAC,TOPMed,gnomAD
rs553062780	p.Ser415Tyr	missense variant	-	NC_000001.11:g.23093018G>T	1000Genomes,ExAC,gnomAD
rs139904386	p.Leu416Val	missense variant	-	NC_000001.11:g.23093016G>C	ESP,ExAC,TOPMed,gnomAD
rs1471038585	p.Ser417Asn	missense variant	-	NC_000001.11:g.23093012C>T	gnomAD
rs1162489094	p.Gln420His	missense variant	-	NC_000001.11:g.23093002C>G	TOPMed
rs1182777789	p.Asn428Ser	missense variant	-	NC_000001.11:g.23092979T>C	gnomAD
rs140449750	p.Ala431Gly	missense variant	-	NC_000001.11:g.23092970G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala431Thr	missense variant	-	NC_000001.11:g.23092971C>T	NCI-TCGA
COSM3689442	p.Ala432Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23092967G>A	NCI-TCGA Cosmic
rs1370421087	p.Lys433Thr	missense variant	-	NC_000001.11:g.23092964T>G	TOPMed
NCI-TCGA novel	p.Ala434Thr	missense variant	-	NC_000001.11:g.23092962C>T	NCI-TCGA
NCI-TCGA novel	p.Ala434SerPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.23092962_23092963insT	NCI-TCGA
rs1164229305	p.Ser435Ala	missense variant	-	NC_000001.11:g.23092959A>C	TOPMed
rs780770294	p.Met437Val	missense variant	-	NC_000001.11:g.23092953T>C	ExAC,TOPMed,gnomAD
rs780770294	p.Met437Leu	missense variant	-	NC_000001.11:g.23092953T>A	ExAC,TOPMed,gnomAD
rs758755928	p.Met437Thr	missense variant	-	NC_000001.11:g.23092952A>G	ExAC,gnomAD
rs780770294	p.Met437Leu	missense variant	-	NC_000001.11:g.23092953T>G	ExAC,TOPMed,gnomAD
rs750833135	p.Gly438Arg	missense variant	-	NC_000001.11:g.23092950C>T	ExAC,gnomAD
rs765687825	p.Gly438Ala	missense variant	-	NC_000001.11:g.23092949C>G	ExAC,gnomAD
rs762340692	p.Val439Met	missense variant	-	NC_000001.11:g.23092947C>T	ExAC,gnomAD
rs145388641	p.Ser440Asn	missense variant	-	NC_000001.11:g.23092943C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753851989	p.Ser440Gly	missense variant	-	NC_000001.11:g.23092944T>C	ExAC,gnomAD
NCI-TCGA novel	p.Thr441Ala	missense variant	-	NC_000001.11:g.23092941T>C	NCI-TCGA
rs760725608	p.Ser443Arg	missense variant	-	NC_000001.11:g.23092933A>C	ExAC
rs1393179477	p.Gly444Arg	missense variant	-	NC_000001.11:g.23092932C>T	gnomAD
rs375185428	p.Thr445Ile	missense variant	-	NC_000001.11:g.23092928G>A	ESP,ExAC,TOPMed,gnomAD
rs555973566	p.Gln446His	missense variant	-	NC_000001.11:g.23092924C>G	1000Genomes,ExAC,gnomAD
rs759384704	p.Glu447Asp	missense variant	-	NC_000001.11:g.23092921C>G	ExAC,gnomAD
rs774317729	p.Lys449Asn	missense variant	-	NC_000001.11:g.23092915C>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu452Lys	missense variant	-	NC_000001.11:g.23092908C>T	NCI-TCGA
rs200763245	p.Asp453Glu	missense variant	-	NC_000001.11:g.23092903G>T	1000Genomes,ExAC,gnomAD
rs372619729	p.Arg454Trp	missense variant	-	NC_000001.11:g.23092902G>A	ESP,TOPMed,gnomAD
rs749251122	p.Arg454Gln	missense variant	-	NC_000001.11:g.23092901C>T	ExAC,TOPMed,gnomAD
rs1454762367	p.Val456Leu	missense variant	-	NC_000001.11:g.23092896C>A	gnomAD
rs564237938	p.Pro457Ser	missense variant	-	NC_000001.11:g.23092893G>A	ExAC
rs477830	p.Gly458Ser	missense variant	-	NC_000001.11:g.23092890C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs477830	p.Gly458Ser	missense variant	-	NC_000001.11:g.23092890C>T	UniProt,dbSNP
VAR_026283	p.Gly458Ser	missense variant	-	NC_000001.11:g.23092890C>T	UniProt
rs1340801758	p.Ser459Phe	missense variant	-	NC_000001.11:g.23092886G>A	TOPMed
NCI-TCGA novel	p.Ser460Pro	missense variant	-	NC_000001.11:g.23092884A>G	NCI-TCGA
rs1349275576	p.Gln461Arg	missense variant	-	NC_000001.11:g.23092880T>C	gnomAD
rs1204926584	p.Gln461His	missense variant	-	NC_000001.11:g.23092879C>G	gnomAD
rs3765407	p.Gln461Lys	missense variant	-	NC_000001.11:g.23092881G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750749396	p.Ser462Asn	missense variant	-	NC_000001.11:g.23092877C>T	ExAC,gnomAD
rs200208053	p.Glu463Lys	missense variant	-	NC_000001.11:g.23092875C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201798117	p.Gly464Arg	missense variant	-	NC_000001.11:g.23092872C>G	1000Genomes,ExAC,gnomAD
rs547460294	p.Arg468Gly	missense variant	-	NC_000001.11:g.23092860T>C	1000Genomes
rs1300682135	p.Gln470Arg	missense variant	-	NC_000001.11:g.23092853T>C	gnomAD
rs1432760945	p.Ser472Ala	missense variant	-	NC_000001.11:g.23092848A>C	gnomAD
rs145669088	p.Val473Met	missense variant	-	NC_000001.11:g.23092845C>T	ESP,gnomAD
rs145669088	p.Val473Leu	missense variant	-	NC_000001.11:g.23092845C>A	ESP,gnomAD
rs1367627820	p.Ser475Thr	missense variant	-	NC_000001.11:g.23092838C>G	TOPMed
rs752769715	p.Arg476His	missense variant	-	NC_000001.11:g.23092835C>T	ExAC,TOPMed,gnomAD
rs760779821	p.Arg476Cys	missense variant	-	NC_000001.11:g.23092836G>A	ExAC,TOPMed,gnomAD
rs766262615	p.Pro479Arg	missense variant	-	NC_000001.11:g.23092826G>C	ExAC,TOPMed,gnomAD
rs766262615	p.Pro479Leu	missense variant	-	NC_000001.11:g.23092826G>A	ExAC,TOPMed,gnomAD
COSM1340257	p.Pro479ArgPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.23092826G>-	NCI-TCGA Cosmic
rs568251684	p.Ala480Gly	missense variant	-	NC_000001.11:g.23092823G>C	1000Genomes,ExAC,TOPMed,gnomAD
COSM4029684	p.Ala481Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23092821C>T	NCI-TCGA Cosmic
rs1193177035	p.Gln482Ter	stop gained	-	NC_000001.11:g.23092818G>A	gnomAD
NCI-TCGA novel	p.Glu483Ter	frameshift	-	NC_000001.11:g.23092808_23092815CTGTGCTC>-	NCI-TCGA
rs769665786	p.Ala487Val	missense variant	-	NC_000001.11:g.23092802G>A	ExAC,TOPMed,gnomAD
rs1197040273	p.Trp488Gly	missense variant	-	NC_000001.11:g.23092800A>C	TOPMed
rs776038918	p.Lys489Thr	missense variant	-	NC_000001.11:g.23092796T>G	ExAC,TOPMed,gnomAD
rs35917050	p.Thr491Ile	missense variant	-	NC_000001.11:g.23092790G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs35917050	p.Thr491Ser	missense variant	-	NC_000001.11:g.23092790G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1347138763	p.Pro494Arg	missense variant	-	NC_000001.11:g.23092781G>C	TOPMed
rs1409434891	p.Gly495Asp	missense variant	-	NC_000001.11:g.23092778C>T	TOPMed
COSM679021	p.Gly495Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23092778C>A	NCI-TCGA Cosmic
rs563389221	p.Glu497Lys	missense variant	-	NC_000001.11:g.23092773C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs477717	p.Ser498Arg	missense variant	-	NC_000001.11:g.23092768G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs477717	p.Ser498Arg	missense variant	-	NC_000001.11:g.23092768G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749655719	p.Ser498Asn	missense variant	-	NC_000001.11:g.23092769C>T	ExAC,gnomAD
rs776046682	p.del499TerArgGluMetTrpArgUnk	stop gained	-	NC_000001.11:g.23092767_23092768insACTCTCCACATTTCCCTTCA	ExAC
rs1313291531	p.Leu500Pro	missense variant	-	NC_000001.11:g.23092763A>G	TOPMed,gnomAD
rs1435512594	p.Lys501Arg	missense variant	-	NC_000001.11:g.23092760T>C	gnomAD
rs1430403141	p.Lys501Asn	missense variant	-	NC_000001.11:g.23092759C>A	TOPMed
rs756603024	p.Gly502Ala	missense variant	-	NC_000001.11:g.23092757C>G	ExAC,TOPMed,gnomAD
rs1472020082	p.Lys503Asn	missense variant	-	NC_000001.11:g.23092753T>A	TOPMed
rs752753872	p.Thr507Lys	missense variant	-	NC_000001.11:g.23092742G>T	ExAC,gnomAD
rs1183284764	p.Arg509Ter	stop gained	-	NC_000001.11:g.23092737G>A	TOPMed
rs755167352	p.Arg509Gln	missense variant	-	NC_000001.11:g.23092736C>T	ExAC,gnomAD
rs1477152133	p.Thr510Ser	missense variant	-	NC_000001.11:g.23092734T>A	gnomAD
rs893015950	p.Thr510Met	missense variant	-	NC_000001.11:g.23092733G>A	gnomAD
rs1477152133	p.Thr510Ala	missense variant	-	NC_000001.11:g.23092734T>C	gnomAD
rs1485109991	p.Phe511Val	missense variant	-	NC_000001.11:g.23092731A>C	gnomAD
rs1235393080	p.Ser512Arg	missense variant	-	NC_000001.11:g.23092728T>G	TOPMed,gnomAD
rs1235393080	p.Ser512Gly	missense variant	-	NC_000001.11:g.23092728T>C	TOPMed,gnomAD
rs559411625	p.Asp513Gly	missense variant	-	NC_000001.11:g.23092724T>C	1000Genomes,ExAC,gnomAD
rs1325668649	p.Thr514Ile	missense variant	-	NC_000001.11:g.23092721G>A	TOPMed
rs1227571412	p.Thr515Ile	missense variant	-	NC_000001.11:g.23092718G>A	TOPMed
rs1216676502	p.His516Leu	missense variant	-	NC_000001.11:g.23092715T>A	gnomAD
rs1281526060	p.Ser518Cys	missense variant	-	NC_000001.11:g.23092709G>C	TOPMed
rs541053379	p.Val519Leu	missense variant	-	NC_000001.11:g.23092707C>G	1000Genomes,ExAC,gnomAD
rs576265023	p.Val519Asp	missense variant	-	NC_000001.11:g.23092706A>T	gnomAD
rs761662568	p.Pro520Ser	missense variant	-	NC_000001.11:g.23092704G>A	ExAC,TOPMed,gnomAD
rs1301301030	p.Ser521Gly	missense variant	-	NC_000001.11:g.23092701T>C	gnomAD
rs1332338569	p.Ser521Ile	missense variant	-	NC_000001.11:g.23092700C>A	TOPMed
rs902972221	p.Pro523Ser	missense variant	-	NC_000001.11:g.23092695G>A	TOPMed,gnomAD
rs1355158561	p.Pro523Leu	missense variant	-	NC_000001.11:g.23092694G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Gly525Ser	missense variant	-	NC_000001.11:g.23092689C>T	NCI-TCGA
rs768144995	p.Gly525Asp	missense variant	-	NC_000001.11:g.23092688C>T	ExAC,gnomAD
rs746590274	p.Ala530Val	missense variant	-	NC_000001.11:g.23092673G>A	ExAC,gnomAD
rs775093010	p.Asp532His	missense variant	-	NC_000001.11:g.23092668C>G	ExAC,gnomAD
rs771763604	p.Thr533Ser	missense variant	-	NC_000001.11:g.23092664G>C	ExAC,TOPMed,gnomAD
rs749617088	p.Ser534Thr	missense variant	-	NC_000001.11:g.23092662A>T	ExAC,gnomAD
rs944382375	p.Gly540Ala	missense variant	-	NC_000001.11:g.23092643C>G	TOPMed
rs199577828	p.Lys541Glu	missense variant	-	NC_000001.11:g.23092641T>C	1000Genomes
rs767273164	p.Arg542Lys	missense variant	-	NC_000001.11:g.23092637C>T	TOPMed,gnomAD
rs148703766	p.His544Gln	missense variant	-	NC_000001.11:g.23092630G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1196218848	p.Val545Met	missense variant	-	NC_000001.11:g.23092629C>T	TOPMed,gnomAD
rs781781131	p.Leu546Pro	missense variant	-	NC_000001.11:g.23092625A>G	ExAC,gnomAD
rs1273734295	p.Asn548Ser	missense variant	-	NC_000001.11:g.23092619T>C	gnomAD
rs1319676228	p.Gly549Arg	missense variant	-	NC_000001.11:g.23092617C>T	TOPMed,gnomAD
rs751733328	p.Gly549Glu	missense variant	-	NC_000001.11:g.23092616C>T	ExAC,TOPMed,gnomAD
rs1319676228	p.Gly549Arg	missense variant	-	NC_000001.11:g.23092617C>G	TOPMed,gnomAD
rs1443332687	p.Ser550Asn	missense variant	-	NC_000001.11:g.23092613C>T	TOPMed,gnomAD
rs543649237	p.Gln551Glu	missense variant	-	NC_000001.11:g.23092611G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs920136372	p.Val552Ala	missense variant	-	NC_000001.11:g.23092607A>G	gnomAD
NCI-TCGA novel	p.Gln554LeuPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.23092601_23092602insAACTCTA	NCI-TCGA
rs750169043	p.Gln554Arg	missense variant	-	NC_000001.11:g.23092601T>C	ExAC,gnomAD
COSM3804398	p.Gln554Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.23092602G>A	NCI-TCGA Cosmic
rs1396871644	p.Ala555Pro	missense variant	-	NC_000001.11:g.23092599C>G	gnomAD
rs34839810	p.Ala555Gly	missense variant	-	NC_000001.11:g.23092598G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs34839810	p.Ala555Asp	missense variant	-	NC_000001.11:g.23092598G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs34839810	p.Ala555Val	missense variant	-	NC_000001.11:g.23092598G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1384118823	p.Cys560Phe	missense variant	-	NC_000001.11:g.23092583C>A	TOPMed
COSM1340256	p.Ser561Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23092580G>C	NCI-TCGA Cosmic
rs761520954	p.Ile564Val	missense variant	-	NC_000001.11:g.23092572T>C	ExAC,gnomAD
rs1161760162	p.Ala566Thr	missense variant	-	NC_000001.11:g.23092566C>T	gnomAD
rs144136219	p.Ala566Asp	missense variant	-	NC_000001.11:g.23092565G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs375727547	p.Ala568Val	missense variant	-	NC_000001.11:g.23092559G>A	ESP,ExAC,TOPMed,gnomAD
rs775005261	p.Ser570Phe	missense variant	-	NC_000001.11:g.23092553G>A	ExAC
rs780483973	p.Arg571Ter	stop gained	-	NC_000001.11:g.23092551G>A	gnomAD
rs759123627	p.Arg571Gln	missense variant	-	NC_000001.11:g.23092550C>T	ExAC,gnomAD
rs770049424	p.Arg572Ile	missense variant	-	NC_000001.11:g.23092547C>A	ExAC,TOPMed,gnomAD
rs781758184	p.Leu578Phe	missense variant	-	NC_000001.11:g.23092530G>A	ExAC,gnomAD
rs769305746	p.Lys582Gln	missense variant	-	NC_000001.11:g.23092518T>G	ExAC,gnomAD
rs747043265	p.Lys582Arg	missense variant	-	NC_000001.11:g.23092517T>C	ExAC,TOPMed,gnomAD
rs758590414	p.Ala585Ser	missense variant	-	NC_000001.11:g.23092509C>A	ExAC,gnomAD
rs145715496	p.Ala585Val	missense variant	-	NC_000001.11:g.23092508G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200446654	p.Asn586Ser	missense variant	-	NC_000001.11:g.23092505T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM6125310	p.Asn586His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23092506T>G	NCI-TCGA Cosmic
rs753682183	p.Gly587Asp	missense variant	-	NC_000001.11:g.23092502C>T	ExAC,gnomAD
rs3765409	p.Gly587Ser	missense variant	-	NC_000001.11:g.23092503C>T	ExAC,TOPMed,gnomAD
rs763972912	p.Asp591Gly	missense variant	-	NC_000001.11:g.23092490T>C	ExAC,gnomAD
rs1233723263	p.Cys594Arg	missense variant	-	NC_000001.11:g.23092482A>G	gnomAD
rs760639391	p.Pro595Leu	missense variant	-	NC_000001.11:g.23092478G>A	ExAC,TOPMed,gnomAD
rs1395121571	p.Pro595Ser	missense variant	-	NC_000001.11:g.23092479G>A	gnomAD
rs760639391	p.Pro595Gln	missense variant	-	NC_000001.11:g.23092478G>T	ExAC,TOPMed,gnomAD
rs1451190391	p.Asn596Ser	missense variant	-	NC_000001.11:g.23092475T>C	TOPMed
rs1263769857	p.Lys598Glu	missense variant	-	NC_000001.11:g.23092470T>C	gnomAD
rs773878637	p.Lys598Thr	missense variant	-	NC_000001.11:g.23092469T>G	ExAC,TOPMed,gnomAD
rs759151843	p.Pro600Ala	missense variant	-	NC_000001.11:g.23092464G>C	ExAC,gnomAD
rs1214691647	p.Val601Phe	missense variant	-	NC_000001.11:g.23092461C>A	gnomAD
rs773844153	p.Leu602Pro	missense variant	-	NC_000001.11:g.23092457A>G	ExAC,TOPMed,gnomAD
rs553735096	p.Ser603Leu	missense variant	-	NC_000001.11:g.23092454G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1298357162	p.Lys604Asn	missense variant	-	NC_000001.11:g.23092450C>G	gnomAD
rs747533935	p.Tyr605His	missense variant	-	NC_000001.11:g.23092449A>G	ExAC,gnomAD
rs375157182	p.Pro606Arg	missense variant	-	NC_000001.11:g.23092445G>C	ESP,ExAC,gnomAD
rs1364705901	p.Pro606Ser	missense variant	-	NC_000001.11:g.23092446G>A	TOPMed
rs1289760433	p.Tyr607Cys	missense variant	-	NC_000001.11:g.23092442T>C	TOPMed
NCI-TCGA novel	p.Ser608Ile	missense variant	-	NC_000001.11:g.23092439C>A	NCI-TCGA
rs1436236002	p.Ser608Asn	missense variant	-	NC_000001.11:g.23092439C>T	TOPMed
rs772044302	p.Arg610Lys	missense variant	-	NC_000001.11:g.23092433C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gln612Lys	missense variant	-	NC_000001.11:g.23092428G>T	NCI-TCGA
NCI-TCGA novel	p.Glu613Asp	missense variant	-	NC_000001.11:g.23092423C>A	NCI-TCGA
rs746004683	p.Asn614Ser	missense variant	-	NC_000001.11:g.23092421T>C	ExAC,TOPMed,gnomAD
rs994870077	p.Gln617Arg	missense variant	-	NC_000001.11:g.23092412T>C	gnomAD
rs898786377	p.Gly618Ala	missense variant	-	NC_000001.11:g.23092409C>G	TOPMed,gnomAD
rs762571867	p.Phe619Leu	missense variant	-	NC_000001.11:g.23092407A>G	gnomAD
rs757522429	p.Thr621Ala	missense variant	-	NC_000001.11:g.23092401T>C	ExAC,TOPMed,gnomAD
COSM464164	p.Ser622Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23092397G>A	NCI-TCGA Cosmic
rs753591265	p.His623Arg	missense variant	-	NC_000001.11:g.23092394T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys624Asn	missense variant	-	NC_000001.11:g.23092390T>G	NCI-TCGA
COSM3789663	p.Glu625Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23092389C>T	NCI-TCGA Cosmic
COSM679022	p.Glu625Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23092389C>G	NCI-TCGA Cosmic
rs1189810838	p.Gly626Arg	missense variant	-	NC_000001.11:g.23092386C>T	gnomAD
rs1426593427	p.Gly626Glu	missense variant	-	NC_000001.11:g.23092385C>T	TOPMed
rs777550143	p.Val627Ile	missense variant	-	NC_000001.11:g.23092383C>T	ExAC,gnomAD
rs777550143	p.Val627Phe	missense variant	-	NC_000001.11:g.23092383C>A	ExAC,gnomAD
rs1200147821	p.Pro630Thr	missense variant	-	NC_000001.11:g.23092374G>T	gnomAD
rs1200147821	p.Pro630Ser	missense variant	-	NC_000001.11:g.23092374G>A	gnomAD
rs1342932044	p.Ala631Thr	missense variant	-	NC_000001.11:g.23092371C>T	gnomAD
NCI-TCGA novel	p.Ala632Thr	missense variant	-	NC_000001.11:g.23092368C>T	NCI-TCGA
rs1253185840	p.Ala632Val	missense variant	-	NC_000001.11:g.23092367G>A	gnomAD
rs370029168	p.Val633Ala	missense variant	-	NC_000001.11:g.23092364A>G	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Val633Ile	missense variant	-	NC_000001.11:g.23092365C>T	NCI-TCGA
rs1276637061	p.Met635Val	missense variant	-	NC_000001.11:g.23092359T>C	gnomAD
rs1235537192	p.Glu636Asp	missense variant	-	NC_000001.11:g.23092354T>G	gnomAD
rs1356579699	p.Ser638Asn	missense variant	-	NC_000001.11:g.23092349C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ser639Arg	missense variant	-	NC_000001.11:g.23092347T>G	NCI-TCGA
rs199684288	p.Pro640Ser	missense variant	-	NC_000001.11:g.23092344G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro640Ala	missense variant	-	NC_000001.11:g.23092344G>C	NCI-TCGA
rs765904214	p.Pro640Leu	missense variant	-	NC_000001.11:g.23092343G>A	ExAC,TOPMed,gnomAD
rs200226163	p.His641Arg	missense variant	-	NC_000001.11:g.23092340T>C	ExAC,TOPMed,gnomAD
rs550252407	p.Glu642Lys	missense variant	-	NC_000001.11:g.23092338C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1367728917	p.Ala643Ser	missense variant	-	NC_000001.11:g.23092335C>A	gnomAD
rs761192667	p.Ala643Val	missense variant	-	NC_000001.11:g.23092334G>A	ExAC,TOPMed,gnomAD
rs1365904492	p.Leu644Val	missense variant	-	NC_000001.11:g.23092332A>C	TOPMed
rs901979657	p.Leu644Phe	missense variant	-	NC_000001.11:g.23092330C>G	TOPMed,gnomAD
rs745888186	p.Arg647Gln	missense variant	-	NC_000001.11:g.23092322C>T	ExAC,TOPMed,gnomAD
rs530578059	p.Arg647Ter	stop gained	-	NC_000001.11:g.23092323G>A	1000Genomes,ExAC,gnomAD
rs530578059	p.Arg647Gly	missense variant	-	NC_000001.11:g.23092323G>C	1000Genomes,ExAC,gnomAD
rs774523044	p.Val648Ile	missense variant	-	NC_000001.11:g.23092320C>T	ExAC,TOPMed,gnomAD
rs1185800157	p.Lys650Glu	missense variant	-	NC_000001.11:g.23092314T>C	gnomAD
rs35645814	p.Ser651Cys	missense variant	-	NC_000001.11:g.23092310G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM4029682	p.Gly653Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23092304C>T	NCI-TCGA Cosmic
rs1239273134	p.Arg654Gly	missense variant	-	NC_000001.11:g.23092302T>C	TOPMed,gnomAD
COSM3789662	p.Arg654Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23092301C>G	NCI-TCGA Cosmic
COSM3789661	p.Asp660Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23092284C>T	NCI-TCGA Cosmic
rs780937992	p.Leu663Phe	missense variant	-	NC_000001.11:g.23092273C>G	ExAC,gnomAD
rs755871756	p.Leu663Val	missense variant	-	NC_000001.11:g.23092275A>C	ExAC,gnomAD
rs747986361	p.Leu663Ser	missense variant	-	NC_000001.11:g.23092274A>G	ExAC,gnomAD
rs1397568089	p.Ile665Lys	missense variant	-	NC_000001.11:g.23092268A>T	gnomAD
rs1397568089	p.Ile665Thr	missense variant	-	NC_000001.11:g.23092268A>G	gnomAD
rs750965450	p.Ile665Val	missense variant	-	NC_000001.11:g.23092269T>C	ExAC,gnomAD
rs1356163918	p.Leu668Ile	missense variant	-	NC_000001.11:g.23092260G>T	TOPMed
NCI-TCGA novel	p.Leu668Phe	missense variant	-	NC_000001.11:g.23092260G>A	NCI-TCGA
rs765924801	p.Val669Ile	missense variant	-	NC_000001.11:g.23092257C>T	ExAC,gnomAD
rs1461931542	p.Lys672Glu	missense variant	-	NC_000001.11:g.23092248T>C	gnomAD
rs376588481	p.Lys672Arg	missense variant	-	NC_000001.11:g.23092247T>C	ESP,ExAC,TOPMed,gnomAD
rs765025015	p.Val674Glu	missense variant	-	NC_000001.11:g.23092241A>T	ExAC,TOPMed,gnomAD
rs765025015	p.Val674Ala	missense variant	-	NC_000001.11:g.23092241A>G	ExAC,TOPMed,gnomAD
COSM1340255	p.Val674GlyPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.23092241_23092242insC	NCI-TCGA Cosmic
rs551357646	p.Thr676Lys	missense variant	-	NC_000001.11:g.23092235G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs551357646	p.Thr676Arg	missense variant	-	NC_000001.11:g.23092235G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs533231478	p.Thr677Ala	missense variant	-	NC_000001.11:g.23092233T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs957593122	p.Ile678Val	missense variant	-	NC_000001.11:g.23092230T>C	TOPMed,gnomAD
rs1208431971	p.Pro680Ser	missense variant	-	NC_000001.11:g.23092224G>A	gnomAD
rs1353372053	p.Glu683Gln	missense variant	-	NC_000001.11:g.23092215C>G	gnomAD
rs761260936	p.Pro684Ser	missense variant	-	NC_000001.11:g.23092212G>A	gnomAD
rs761260936	p.Pro684Ala	missense variant	-	NC_000001.11:g.23092212G>C	gnomAD
rs887882152	p.Lys685Arg	missense variant	-	NC_000001.11:g.23092208T>C	TOPMed
rs770991476	p.Pro686Arg	missense variant	-	NC_000001.11:g.23092205G>C	ExAC,gnomAD
rs371048010	p.Ser690Phe	missense variant	-	NC_000001.11:g.23092193G>A	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Glu692Ter	stop gained	-	NC_000001.11:g.23092188C>A	NCI-TCGA
rs1441484248	p.Glu692Gln	missense variant	-	NC_000001.11:g.23092188C>G	gnomAD
rs1330461645	p.Ala694Asp	missense variant	-	NC_000001.11:g.23092181G>T	gnomAD
rs141739515	p.Arg697Gln	missense variant	-	NC_000001.11:g.23092172C>T	1000Genomes,ExAC,gnomAD
rs773399767	p.Arg697Gly	missense variant	-	NC_000001.11:g.23092173G>C	ExAC,TOPMed,gnomAD
COSM1340254	p.Arg697Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.23092173G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala699GlyPheSerTerUnk	frameshift	-	NC_000001.11:g.23092166_23092167insC	NCI-TCGA
NCI-TCGA novel	p.Pro700AlaPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.23092164_23092165insGC	NCI-TCGA
rs147101646	p.Thr702Ile	missense variant	-	NC_000001.11:g.23092157G>A	ESP,ExAC,TOPMed,gnomAD
rs746949709	p.Leu704Ile	missense variant	-	NC_000001.11:g.23092152G>T	ExAC,TOPMed,gnomAD
rs1478611909	p.Phe705Ser	missense variant	-	NC_000001.11:g.23092148A>G	TOPMed,gnomAD
rs977722884	p.Phe705Leu	missense variant	-	NC_000001.11:g.23092149A>G	TOPMed,gnomAD
rs1403835560	p.Asn707Lys	missense variant	-	NC_000001.11:g.23092141A>T	TOPMed
rs757954527	p.Asn707Ile	missense variant	-	NC_000001.11:g.23092142T>A	ExAC,gnomAD
rs1197441015	p.Lys709Glu	missense variant	-	NC_000001.11:g.23092137T>C	gnomAD
COSM425617	p.Asp710Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23092134C>T	NCI-TCGA Cosmic
rs1449073608	p.Ala711Val	missense variant	-	NC_000001.11:g.23092130G>A	gnomAD
rs1470155704	p.Gly712Arg	missense variant	-	NC_000001.11:g.23092128C>T	TOPMed
rs1287234478	p.Met713Thr	missense variant	-	NC_000001.11:g.23092124A>G	TOPMed,gnomAD
rs750006927	p.Asn715Lys	missense variant	-	NC_000001.11:g.23092117A>T	ExAC,gnomAD
rs138698820	p.Asn715Ser	missense variant	-	NC_000001.11:g.23092118T>C	1000Genomes
rs1390209926	p.Glu716Gln	missense variant	-	NC_000001.11:g.23092116C>G	TOPMed,gnomAD
rs375575786	p.Ser717Phe	missense variant	-	NC_000001.11:g.23092112G>A	ESP,TOPMed,gnomAD
rs1281768834	p.Ser720Cys	missense variant	-	NC_000001.11:g.23092103G>C	gnomAD
rs757002468	p.Val721Leu	missense variant	-	NC_000001.11:g.23092101C>G	ExAC
rs767939656	p.Asn726Ser	missense variant	-	NC_000001.11:g.23092085T>C	ExAC,gnomAD
rs752939097	p.Asn726Asp	missense variant	-	NC_000001.11:g.23092086T>C	ExAC,gnomAD
rs144862656	p.Thr727Ala	missense variant	-	NC_000001.11:g.23092083T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200093429	p.Met728Val	missense variant	-	NC_000001.11:g.23092080T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs200093429	p.Met728Leu	missense variant	-	NC_000001.11:g.23092080T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1204662594	p.Met728Ile	missense variant	-	NC_000001.11:g.23092078C>T	TOPMed
COSM4029680	p.Met728Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23092079A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu730Phe	missense variant	-	NC_000001.11:g.23092074G>A	NCI-TCGA
rs1358882948	p.Pro731Leu	missense variant	-	NC_000001.11:g.23092070G>A	gnomAD
rs970181905	p.Thr733Asn	missense variant	-	NC_000001.11:g.23092064G>T	TOPMed
rs762105032	p.Asn734Ser	missense variant	-	NC_000001.11:g.23092061T>C	ExAC,TOPMed,gnomAD
rs1476691398	p.Ala736Val	missense variant	-	NC_000001.11:g.23092055G>A	gnomAD
rs1264285120	p.Gly737Ala	missense variant	-	NC_000001.11:g.23092052C>G	gnomAD
rs776773672	p.Pro743Leu	missense variant	-	NC_000001.11:g.23092034G>A	ExAC,gnomAD
NCI-TCGA novel	p.Phe744LeuPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.23092030A>-	NCI-TCGA
rs1259174059	p.Phe744Leu	missense variant	-	NC_000001.11:g.23092030A>T	gnomAD
rs1244632424	p.Ala749Val	missense variant	-	NC_000001.11:g.23092016G>A	TOPMed
rs146031719	p.Arg751Trp	missense variant	-	NC_000001.11:g.23092011G>A	ESP,ExAC,TOPMed,gnomAD
rs372659813	p.Arg751Pro	missense variant	-	NC_000001.11:g.23092010C>G	ESP,ExAC,TOPMed,gnomAD
rs372659813	p.Arg751Gln	missense variant	-	NC_000001.11:g.23092010C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser752Thr	missense variant	-	NC_000001.11:g.23092008A>T	NCI-TCGA
rs1277274874	p.Ser752Phe	missense variant	-	NC_000001.11:g.23092007G>A	gnomAD
rs1450690000	p.Ile755Val	missense variant	-	NC_000001.11:g.23091999T>C	gnomAD
NCI-TCGA novel	p.Ile755AsnPheSerTerUnk	frameshift	-	NC_000001.11:g.23091992_23091998TTGATGA>-	NCI-TCGA
rs1357192498	p.Ile756Val	missense variant	-	NC_000001.11:g.23091996T>C	gnomAD
rs756802957	p.Pro758Ala	missense variant	-	NC_000001.11:g.23091990G>C	ExAC,TOPMed,gnomAD
rs1332298802	p.Val759Ile	missense variant	-	NC_000001.11:g.23091987C>T	gnomAD
rs753517977	p.Val759Gly	missense variant	-	NC_000001.11:g.23091986A>C	ExAC,gnomAD
rs777328329	p.Ile760Thr	missense variant	-	NC_000001.11:g.23091983A>G	ExAC,gnomAD
rs755346107	p.Asp762Ala	missense variant	-	NC_000001.11:g.23091977T>G	ExAC
rs751890782	p.Asp764Glu	missense variant	-	NC_000001.11:g.23091970A>C	ExAC,gnomAD
rs1464886549	p.Asp764Tyr	missense variant	-	NC_000001.11:g.23091972C>A	TOPMed
rs766832036	p.Lys767Thr	missense variant	-	NC_000001.11:g.23091962T>G	ExAC,TOPMed,gnomAD
rs1207264434	p.Ile768Val	missense variant	-	NC_000001.11:g.23091960T>C	TOPMed
rs1420539473	p.Met769Val	missense variant	-	NC_000001.11:g.23091957T>C	gnomAD
rs576533371	p.Gly771Val	missense variant	-	NC_000001.11:g.23091950C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs576533371	p.Gly771Glu	missense variant	-	NC_000001.11:g.23091950C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs750441745	p.Ser772Pro	missense variant	-	NC_000001.11:g.23091948A>G	ExAC,gnomAD
rs765284876	p.Gly773Arg	missense variant	-	NC_000001.11:g.23091945C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly773Glu	missense variant	-	NC_000001.11:g.23091944C>T	NCI-TCGA
NCI-TCGA novel	p.Glu775Lys	missense variant	-	NC_000001.11:g.23091939C>T	NCI-TCGA
rs761862859	p.Thr776Ser	missense variant	-	NC_000001.11:g.23091935G>C	ExAC,gnomAD
rs113860430	p.Thr777Met	missense variant	-	NC_000001.11:g.23091932G>A	ESP,ExAC,TOPMed,gnomAD
rs1336633330	p.Leu778Trp	missense variant	-	NC_000001.11:g.23091929A>C	gnomAD
rs775461037	p.Glu779Asp	missense variant	-	NC_000001.11:g.23091925C>G	ExAC,gnomAD
rs747199376	p.Pro783Arg	missense variant	-	NC_000001.11:g.23091914G>C	ExAC,TOPMed,gnomAD
rs779054767	p.Val784Ile	missense variant	-	NC_000001.11:g.23091912C>T	ExAC,TOPMed,gnomAD
rs779054767	p.Val784Leu	missense variant	-	NC_000001.11:g.23091912C>G	ExAC,TOPMed,gnomAD
rs770442161	p.Pro787Ser	missense variant	-	NC_000001.11:g.23091903G>A	ExAC,TOPMed,gnomAD
rs748794629	p.Gly788Arg	missense variant	-	NC_000001.11:g.23091900C>G	ExAC,TOPMed,gnomAD
rs1331236392	p.Thr793Arg	missense variant	-	NC_000001.11:g.23091884G>C	gnomAD
rs887326975	p.Ser794Asn	missense variant	-	NC_000001.11:g.23091881C>T	TOPMed,gnomAD
rs1397093078	p.Ser795Gly	missense variant	-	NC_000001.11:g.23091879T>C	gnomAD
rs777431769	p.Ile796Val	missense variant	-	NC_000001.11:g.23091876T>C	ExAC,TOPMed,gnomAD
rs777431769	p.Ile796Phe	missense variant	-	NC_000001.11:g.23091876T>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr797Asn	missense variant	-	NC_000001.11:g.23091872G>T	NCI-TCGA
rs755749569	p.Thr797Ile	missense variant	-	NC_000001.11:g.23091872G>A	ExAC,gnomAD
rs187986579	p.Asp802Asn	missense variant	-	NC_000001.11:g.23091858C>T	1000Genomes,ExAC,gnomAD
rs1439747048	p.Ser805Gly	missense variant	-	NC_000001.11:g.23091849T>C	gnomAD
rs1429453490	p.Pro806Arg	missense variant	-	NC_000001.11:g.23091845G>C	TOPMed
rs568032709	p.Arg807Gly	missense variant	-	NC_000001.11:g.23091843T>C	ExAC,TOPMed,gnomAD
rs1176655946	p.Ala809Thr	missense variant	-	NC_000001.11:g.23091837C>T	gnomAD
rs1469781712	p.Pro810Ala	missense variant	-	NC_000001.11:g.23091834G>C	gnomAD
rs758820038	p.Pro810Leu	missense variant	-	NC_000001.11:g.23091833G>A	ExAC,gnomAD
rs1489760175	p.Glu812Asp	missense variant	-	NC_000001.11:g.23091826C>A	TOPMed
rs765775848	p.Ala813Ser	missense variant	-	NC_000001.11:g.23091825C>A	ExAC,TOPMed,gnomAD
rs757339763	p.Ala813Gly	missense variant	-	NC_000001.11:g.23091824G>C	ExAC,TOPMed,gnomAD
rs753887435	p.Glu816Lys	missense variant	-	NC_000001.11:g.23091816C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg817SerPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.23091811C>-	NCI-TCGA
rs916031865	p.Arg817Ser	missense variant	-	NC_000001.11:g.23091811C>G	TOPMed
rs1402844598	p.His818Asp	missense variant	-	NC_000001.11:g.23091810G>C	TOPMed,gnomAD
rs764336667	p.Thr819Ile	missense variant	-	NC_000001.11:g.23091806G>A	ExAC,gnomAD
rs1370382226	p.Ser820Tyr	missense variant	-	NC_000001.11:g.23091803G>T	gnomAD
rs760815764	p.Thr821Ser	missense variant	-	NC_000001.11:g.23091800G>C	ExAC
rs572398073	p.Asn823Ser	missense variant	-	NC_000001.11:g.23091794T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs200781971	p.Gln825Leu	missense variant	-	NC_000001.11:g.23091788T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1282460760	p.Gln825Ter	stop gained	-	NC_000001.11:g.23091789G>A	TOPMed
COSM6062181	p.Gln825His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23091787C>A	NCI-TCGA Cosmic
rs759472987	p.Val826Leu	missense variant	-	NC_000001.11:g.23091786C>A	ExAC,gnomAD
rs146253473	p.Ala829Val	missense variant	-	NC_000001.11:g.23091776G>A	ESP,ExAC,TOPMed,gnomAD
rs148335397	p.Glu830Gly	missense variant	-	NC_000001.11:g.23091773T>C	ESP,TOPMed
rs1044732930	p.Leu831Phe	missense variant	-	NC_000001.11:g.23091771G>A	TOPMed,gnomAD
rs369490916	p.Val834Ile	missense variant	-	NC_000001.11:g.23091762C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs769429662	p.Asn836Ser	missense variant	-	NC_000001.11:g.23091755T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser839AlaPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.23091748_23091749insGGCCAGAGCAGAGGGGAAAAAGGAAAAGGCA	NCI-TCGA
rs1479221108	p.Pro841His	missense variant	-	NC_000001.11:g.23091740G>T	TOPMed
rs780887848	p.Phe842Ile	missense variant	-	NC_000001.11:g.23091738A>T	ExAC,gnomAD
rs1314090833	p.Leu844Phe	missense variant	-	NC_000001.11:g.23091732G>A	gnomAD
rs1436688811	p.His847Arg	missense variant	-	NC_000001.11:g.23091722T>C	TOPMed
rs758730068	p.His847Gln	missense variant	-	NC_000001.11:g.23091721G>T	ExAC,gnomAD
rs1199454011	p.His847Asp	missense variant	-	NC_000001.11:g.23091723G>C	TOPMed
rs746281981	p.Lys848Glu	missense variant	-	NC_000001.11:g.23091720T>C	ExAC,gnomAD
rs200399818	p.His849Arg	missense variant	-	NC_000001.11:g.23091716T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs753893122	p.Ile851Thr	missense variant	-	NC_000001.11:g.23091710A>G	ExAC,gnomAD
rs948559960	p.Ile851Val	missense variant	-	NC_000001.11:g.23091711T>C	TOPMed,gnomAD
rs764099162	p.Thr852Asn	missense variant	-	NC_000001.11:g.23091707G>T	ExAC,TOPMed,gnomAD
rs764099162	p.Thr852Ile	missense variant	-	NC_000001.11:g.23091707G>A	ExAC,TOPMed,gnomAD
rs756323860	p.Gln854Pro	missense variant	-	NC_000001.11:g.23091701T>G	ExAC,gnomAD
rs767898208	p.Ala858Val	missense variant	-	NC_000001.11:g.23091689G>A	ExAC,TOPMed,gnomAD
rs1284126695	p.Met861Ile	missense variant	-	NC_000001.11:g.23091679C>T	TOPMed
rs766268988	p.Met861Thr	missense variant	-	NC_000001.11:g.23091680A>G	ExAC,TOPMed,gnomAD
rs1488703891	p.Ala862Val	missense variant	-	NC_000001.11:g.23091677G>A	TOPMed,gnomAD
rs989866099	p.Pro865Arg	missense variant	-	NC_000001.11:g.23091668G>C	TOPMed
rs1214804174	p.Pro865Ser	missense variant	-	NC_000001.11:g.23091669G>A	gnomAD
rs1484257021	p.Leu866Pro	missense variant	-	NC_000001.11:g.23091665A>G	gnomAD
COSM905734	p.Lys867Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23091661C>A	NCI-TCGA Cosmic
rs10799790	p.Asp868Asn	missense variant	-	NC_000001.11:g.23091660C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs747695588	p.Asp868Gly	missense variant	-	NC_000001.11:g.23091659T>C	ExAC,gnomAD
rs1310968406	p.Arg869Gly	missense variant	-	NC_000001.11:g.23091657T>C	gnomAD
rs768320885	p.Thr872Arg	missense variant	-	NC_000001.11:g.23091647G>C	ExAC,gnomAD
rs746191983	p.Arg876Trp	missense variant	-	NC_000001.11:g.23091636G>A	ExAC,TOPMed,gnomAD
rs147117617	p.Arg876Gln	missense variant	-	NC_000001.11:g.23091635C>T	ESP,ExAC,TOPMed,gnomAD
rs771415477	p.Ile880Met	missense variant	-	NC_000001.11:g.23091622T>C	ExAC,gnomAD
rs1430474335	p.Lys882Glu	missense variant	-	NC_000001.11:g.23091618T>C	TOPMed
rs778414535	p.Pro883Ser	missense variant	-	NC_000001.11:g.23091615G>A	ExAC,TOPMed,gnomAD
rs756234092	p.Pro883Leu	missense variant	-	NC_000001.11:g.23091614G>A	ExAC,gnomAD
rs200873130	p.Ser884Leu	missense variant	-	NC_000001.11:g.23091611G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs200873130	p.Ser884Ter	stop gained	-	NC_000001.11:g.23091611G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs766073999	p.Pro886Leu	missense variant	-	NC_000001.11:g.23091605G>A	ExAC,gnomAD
rs1344356035	p.Pro886Ser	missense variant	-	NC_000001.11:g.23091606G>A	gnomAD
rs1183357933	p.Val887Ala	missense variant	-	NC_000001.11:g.23091602A>G	TOPMed
rs762872026	p.Glu888Gly	missense variant	-	NC_000001.11:g.23091599T>C	ExAC,gnomAD
rs775355531	p.Ser891Arg	missense variant	-	NC_000001.11:g.23091589G>C	gnomAD
COSM905733	p.Ser891Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23091590C>T	NCI-TCGA Cosmic
rs765205403	p.His892Arg	missense variant	-	NC_000001.11:g.23091587T>C	ExAC,gnomAD
rs1028768773	p.Ala893Val	missense variant	-	NC_000001.11:g.23091584G>A	TOPMed,gnomAD
rs145151005	p.Ala896Val	missense variant	-	NC_000001.11:g.23091575G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM905732	p.Ala896Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23091576C>T	NCI-TCGA Cosmic
rs1276734930	p.Thr898Arg	missense variant	-	NC_000001.11:g.23091569G>C	gnomAD
rs374297046	p.Thr898Ala	missense variant	-	NC_000001.11:g.23091570T>C	ESP
rs142090761	p.Arg900Gly	missense variant	-	NC_000001.11:g.23091564T>C	ESP,ExAC
rs779014268	p.Trp901Arg	missense variant	-	NC_000001.11:g.23091561A>T	ExAC,TOPMed,gnomAD
rs1348819941	p.His904Tyr	missense variant	-	NC_000001.11:g.23091552G>A	TOPMed
rs1398498858	p.Ala906Val	missense variant	-	NC_000001.11:g.23091545G>A	gnomAD
NCI-TCGA novel	p.Pro907Thr	missense variant	-	NC_000001.11:g.23091543G>T	NCI-TCGA
rs1239892853	p.Val910Leu	missense variant	-	NC_000001.11:g.23091534C>A	TOPMed
NCI-TCGA novel	p.Gly911Arg	missense variant	-	NC_000001.11:g.23091531C>G	NCI-TCGA
rs1397783243	p.Phe912Leu	missense variant	-	NC_000001.11:g.23091528A>G	gnomAD
rs1382646821	p.Phe912Leu	missense variant	-	NC_000001.11:g.23091526G>C	TOPMed
rs536107380	p.Ser913Ter	stop gained	-	NC_000001.11:g.23091524G>C	gnomAD
rs536107380	p.Ser913Leu	missense variant	-	NC_000001.11:g.23091524G>A	gnomAD
rs1335276734	p.Asp914Asn	missense variant	-	NC_000001.11:g.23091522C>T	TOPMed
rs539683128	p.Ala915Val	missense variant	-	NC_000001.11:g.23091518G>A	1000Genomes,ExAC,gnomAD
rs781430142	p.Ala915Thr	missense variant	-	NC_000001.11:g.23091519C>T	ExAC,gnomAD
rs780362065	p.Arg916Ser	missense variant	-	NC_000001.11:g.23091514T>G	ExAC,gnomAD
rs1240148041	p.Arg916Gly	missense variant	-	NC_000001.11:g.23091516T>C	TOPMed,gnomAD
rs376551417	p.Val918Ala	missense variant	-	NC_000001.11:g.23091509A>G	ESP,ExAC,gnomAD
rs1212010929	p.Thr919Ala	missense variant	-	NC_000001.11:g.23091507T>C	gnomAD
rs765121204	p.Thr919Ile	missense variant	-	NC_000001.11:g.23091506G>A	ExAC,gnomAD
rs149039238	p.Arg921Trp	missense variant	-	NC_000001.11:g.23091501G>A	ESP,ExAC,TOPMed,gnomAD
rs371794782	p.Arg921Gln	missense variant	-	NC_000001.11:g.23091500C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp924Ter	stop gained	-	NC_000001.11:g.23091490C>T	NCI-TCGA
rs1309376633	p.Lys925Arg	missense variant	-	NC_000001.11:g.23091488T>C	gnomAD
rs143980720	p.Ser926Asn	missense variant	-	NC_000001.11:g.23091485C>T	ESP,TOPMed,gnomAD
rs1325519352	p.Arg927Ser	missense variant	-	NC_000001.11:g.23091481C>G	gnomAD
rs199811948	p.Arg928Gln	missense variant	-	NC_000001.11:g.23091479C>T	1000Genomes,ExAC,gnomAD
COSM533130	p.Arg928Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.23091480G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp929Tyr	missense variant	-	NC_000001.11:g.23091477C>A	NCI-TCGA
rs547715159	p.Asp929His	missense variant	-	NC_000001.11:g.23091477C>G	1000Genomes
rs374054027	p.Leu930Ser	missense variant	-	NC_000001.11:g.23091473A>G	ESP,TOPMed
COSM3804393	p.Leu930Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23091472C>A	NCI-TCGA Cosmic
rs771809598	p.Asp935His	missense variant	-	NC_000001.11:g.23091459C>G	ExAC,TOPMed,gnomAD
rs1159342358	p.Pro936Leu	missense variant	-	NC_000001.11:g.23091455G>A	gnomAD
NCI-TCGA novel	p.Pro937GlnPheSerTerUnk	frameshift	-	NC_000001.11:g.23091452G>-	NCI-TCGA
COSM6062182	p.Pro937Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23091453G>C	NCI-TCGA Cosmic
rs770363337	p.Thr938Ala	missense variant	-	NC_000001.11:g.23091450T>C	ExAC,TOPMed,gnomAD
rs770363337	p.Thr938Ser	missense variant	-	NC_000001.11:g.23091450T>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr938AsnPheSerTerUnk	frameshift	-	NC_000001.11:g.23091451_23091452insG	NCI-TCGA
rs770363337	p.Thr938Pro	missense variant	-	NC_000001.11:g.23091450T>G	ExAC,TOPMed,gnomAD
rs1201724443	p.Thr938Ile	missense variant	-	NC_000001.11:g.23091449G>A	gnomAD
COSM905730	p.Thr938AsnPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.23091449_23091450insT	NCI-TCGA Cosmic
rs377020005	p.Arg939Gln	missense variant	-	NC_000001.11:g.23091446C>T	ESP,gnomAD
rs748647855	p.Ile940Leu	missense variant	-	NC_000001.11:g.23091444T>A	ExAC,gnomAD
rs1267157926	p.Gly941Arg	missense variant	-	NC_000001.11:g.23091441C>G	gnomAD
rs1286655114	p.Lys942Arg	missense variant	-	NC_000001.11:g.23091437T>C	TOPMed
rs549541205	p.Val944Leu	missense variant	-	NC_000001.11:g.23091432C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs549541205	p.Val944Met	missense variant	-	NC_000001.11:g.23091432C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs758680253	p.Glu945Asp	missense variant	-	NC_000001.11:g.23091427T>G	ExAC,gnomAD
rs1350936386	p.Ser946Ala	missense variant	-	NC_000001.11:g.23091426A>C	gnomAD
rs757101914	p.Asn948Lys	missense variant	-	NC_000001.11:g.23091418A>C	ExAC,gnomAD
NCI-TCGA novel	p.Asn948Thr	missense variant	-	NC_000001.11:g.23091419T>G	NCI-TCGA
rs778693487	p.Asn948Ser	missense variant	-	NC_000001.11:g.23091419T>C	ExAC,TOPMed,gnomAD
rs753774095	p.Ala951Thr	missense variant	-	NC_000001.11:g.23091411C>T	ExAC,TOPMed,gnomAD
rs764061159	p.Tyr952Cys	missense variant	-	NC_000001.11:g.23091407T>C	ExAC,gnomAD
rs752279640	p.Thr953Ile	missense variant	-	NC_000001.11:g.23091404G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr953ArgPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.23091404_23091405insGGGTTTGACCTTTC	NCI-TCGA
rs1419994804	p.Gln954His	missense variant	-	NC_000001.11:g.23091400C>G	TOPMed
rs147463811	p.Gln954Arg	missense variant	-	NC_000001.11:g.23091401T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs139395162	p.Arg955Lys	missense variant	-	NC_000001.11:g.23091398C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1174802399	p.Thr958Ala	missense variant	-	NC_000001.11:g.23091390T>C	TOPMed,gnomAD
rs1478663567	p.Thr958Ile	missense variant	-	NC_000001.11:g.23091389G>A	gnomAD
NCI-TCGA novel	p.Asp959Gly	missense variant	-	NC_000001.11:g.23091386T>C	NCI-TCGA
COSM905728	p.Glu962Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.23091378C>A	NCI-TCGA Cosmic
rs769227184	p.Glu964Lys	missense variant	-	NC_000001.11:g.23091372C>T	ExAC,gnomAD
rs1215504600	p.Pro966Leu	missense variant	-	NC_000001.11:g.23091365G>A	gnomAD
rs1441976947	p.Arg967Gly	missense variant	-	NC_000001.11:g.23091363T>C	gnomAD
rs1185678437	p.Ser968Tyr	missense variant	-	NC_000001.11:g.23091359G>T	TOPMed
rs775645953	p.Leu970His	missense variant	-	NC_000001.11:g.23091353A>T	ExAC,TOPMed,gnomAD
rs542133053	p.Leu970Phe	missense variant	-	NC_000001.11:g.23091354G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1194636800	p.Gln973Arg	missense variant	-	NC_000001.11:g.23091344T>C	TOPMed
rs772128155	p.Gly974Asp	missense variant	-	NC_000001.11:g.23091341C>T	ExAC,gnomAD
rs779176566	p.Arg976Gln	missense variant	-	NC_000001.11:g.23091335C>T	ExAC,TOPMed,gnomAD
rs150118576	p.Arg976Gly	missense variant	-	NC_000001.11:g.23091336G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg977Met	missense variant	-	NC_000001.11:g.23091332C>A	NCI-TCGA
rs1220221625	p.Arg977Ser	missense variant	-	NC_000001.11:g.23091331C>G	gnomAD
rs377235379	p.Gly979Glu	missense variant	-	NC_000001.11:g.23091326C>T	ESP,ExAC,TOPMed,gnomAD
rs749132395	p.Pro980Ala	missense variant	-	NC_000001.11:g.23091324G>C	ExAC,TOPMed,gnomAD
rs1272963553	p.Ser981Asn	missense variant	-	NC_000001.11:g.23091320C>T	TOPMed
rs1343454761	p.Ser982Leu	missense variant	-	NC_000001.11:g.23091317G>A	gnomAD
rs756079575	p.Asp984Ala	missense variant	-	NC_000001.11:g.23091311T>G	ExAC,TOPMed,gnomAD
rs756079575	p.Asp984Gly	missense variant	-	NC_000001.11:g.23091311T>C	ExAC,TOPMed,gnomAD
COSM4029678	p.Asp984Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23091312C>T	NCI-TCGA Cosmic
rs1271205181	p.Pro988Ser	missense variant	-	NC_000001.11:g.23091300G>A	TOPMed
rs375588518	p.Pro988Leu	missense variant	-	NC_000001.11:g.23091299G>A	ESP,ExAC,TOPMed,gnomAD
rs952400925	p.Ser989Phe	missense variant	-	NC_000001.11:g.23091296G>A	TOPMed,gnomAD
rs767035749	p.Ser989Ala	missense variant	-	NC_000001.11:g.23091297A>C	ExAC,gnomAD
rs1277750367	p.Ser990Phe	missense variant	-	NC_000001.11:g.23091293G>A	gnomAD
rs1192419946	p.Gln994Arg	missense variant	-	NC_000001.11:g.23091281T>C	gnomAD
NCI-TCGA novel	p.Ser996ArgPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.23091274_23091275insT	NCI-TCGA
rs751225533	p.Ser996Asn	missense variant	-	NC_000001.11:g.23091275C>T	ExAC,gnomAD
rs754509854	p.Ser996Gly	missense variant	-	NC_000001.11:g.23091276T>C	ExAC,gnomAD
rs993638797	p.Thr998Asn	missense variant	-	NC_000001.11:g.23091269G>T	TOPMed
NCI-TCGA novel	p.Val999Ala	missense variant	-	NC_000001.11:g.23091266A>G	NCI-TCGA
rs183227574	p.Glu1001Gln	missense variant	-	NC_000001.11:g.23091261C>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val1002Ala	missense variant	-	NC_000001.11:g.23091257A>G	NCI-TCGA
rs1035046937	p.Leu1003Val	missense variant	-	NC_000001.11:g.23091255G>C	TOPMed,gnomAD
rs1318304700	p.Leu1003Arg	missense variant	-	NC_000001.11:g.23091254A>C	gnomAD
rs1035046937	p.Leu1003Phe	missense variant	-	NC_000001.11:g.23091255G>A	TOPMed,gnomAD
rs370900179	p.Arg1005Pro	missense variant	-	NC_000001.11:g.23091248C>G	ESP,ExAC,TOPMed,gnomAD
rs370900179	p.Arg1005Leu	missense variant	-	NC_000001.11:g.23091248C>A	ESP,ExAC,TOPMed,gnomAD
rs370900179	p.Arg1005His	missense variant	-	NC_000001.11:g.23091248C>T	ESP,ExAC,TOPMed,gnomAD
rs75606656	p.Arg1005Cys	missense variant	-	NC_000001.11:g.23091249G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146756895	p.Arg1006Pro	missense variant	-	NC_000001.11:g.23091245C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146756895	p.Arg1006Gln	missense variant	-	NC_000001.11:g.23091245C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200565029	p.Arg1006Trp	missense variant	-	NC_000001.11:g.23091246G>A	ExAC,TOPMed,gnomAD
rs576296660	p.Arg1008Trp	missense variant	-	NC_000001.11:g.23091240G>A	ExAC,gnomAD
rs148668095	p.Arg1008Gln	missense variant	-	NC_000001.11:g.23091239C>T	ESP,ExAC,TOPMed,gnomAD
rs1309786303	p.Asp1011His	missense variant	-	NC_000001.11:g.23091231C>G	TOPMed
rs1240777135	p.Ala1016Val	missense variant	-	NC_000001.11:g.23091215G>A	gnomAD
rs753375560	p.Ala1016Thr	missense variant	-	NC_000001.11:g.23091216C>T	ExAC,TOPMed,gnomAD
rs1180375203	p.Trp1018Cys	missense variant	-	NC_000001.11:g.23091208C>G	gnomAD
rs1280933996	p.His1020Arg	missense variant	-	NC_000001.11:g.23091203T>C	TOPMed
COSM6062183	p.His1020Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23091204G>A	NCI-TCGA Cosmic
rs769530479	p.Ser1021Pro	missense variant	-	NC_000001.11:g.23091201A>G	ExAC,gnomAD
rs1323357566	p.Ala1022Thr	missense variant	-	NC_000001.11:g.23091198C>T	gnomAD
NCI-TCGA novel	p.Glu1025Asp	missense variant	-	NC_000001.11:g.23089051C>A	NCI-TCGA
rs139140747	p.Glu1025Val	missense variant	-	NC_000001.11:g.23089052T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs139140747	p.Glu1025Ala	missense variant	-	NC_000001.11:g.23089052T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs750096792	p.Glu1026Gly	missense variant	-	NC_000001.11:g.23089049T>C	ExAC,gnomAD
rs1285193280	p.Glu1027Gly	missense variant	-	NC_000001.11:g.23089046T>C	TOPMed
rs577053805	p.Gly1028Glu	missense variant	-	NC_000001.11:g.23089043C>T	1000Genomes,ExAC,gnomAD
rs753029312	p.Glu1029Gly	missense variant	-	NC_000001.11:g.23089040T>C	ExAC,gnomAD
NCI-TCGA novel	p.Cys1031Arg	missense variant	-	NC_000001.11:g.23089035A>G	NCI-TCGA
rs190175949	p.Cys1031Ser	missense variant	-	NC_000001.11:g.23089034C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs190175949	p.Cys1031Tyr	missense variant	-	NC_000001.11:g.23089034C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1318503683	p.Leu1033Arg	missense variant	-	NC_000001.11:g.23089028A>C	TOPMed
rs1257071760	p.Leu1033Phe	missense variant	-	NC_000001.11:g.23089029G>A	gnomAD
rs12066671	p.Ser1034Thr	missense variant	-	NC_000001.11:g.23089025C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs12066671	p.Ser1034Asn	missense variant	-	NC_000001.11:g.23089025C>T	UniProt,dbSNP
VAR_056934	p.Ser1034Asn	missense variant	-	NC_000001.11:g.23089025C>T	UniProt
rs12066671	p.Ser1034Asn	missense variant	-	NC_000001.11:g.23089025C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1377281267	p.Val1035Ile	missense variant	-	NC_000001.11:g.23089023C>T	TOPMed
NCI-TCGA novel	p.Leu1039Val	missense variant	-	NC_000001.11:g.23089011G>C	NCI-TCGA
rs201626227	p.Leu1039Pro	missense variant	-	NC_000001.11:g.23089010A>G	1000Genomes,ExAC
rs146205890	p.His1040Arg	missense variant	-	NC_000001.11:g.23089007T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs776292956	p.Asn1041Ile	missense variant	-	NC_000001.11:g.23089004T>A	ExAC,gnomAD
rs375176842	p.Ser1042Phe	missense variant	-	NC_000001.11:g.23089001G>A	ESP,ExAC,TOPMed,gnomAD
rs1171128242	p.Asp1044Gly	missense variant	-	NC_000001.11:g.23088995T>C	gnomAD
rs768730686	p.Pro1045Leu	missense variant	-	NC_000001.11:g.23088992G>A	ExAC,TOPMed,gnomAD
rs1422840750	p.Glu1047Gln	missense variant	-	NC_000001.11:g.23088987C>G	TOPMed
rs1191359092	p.Glu1047Val	missense variant	-	NC_000001.11:g.23088986T>A	gnomAD
rs748482461	p.Pro1049His	missense variant	-	NC_000001.11:g.23088980G>T	ExAC,TOPMed,gnomAD
rs748482461	p.Pro1049Leu	missense variant	-	NC_000001.11:g.23088980G>A	ExAC,TOPMed,gnomAD
rs756892894	p.Pro1049Ala	missense variant	-	NC_000001.11:g.23088981G>C	ExAC,gnomAD
rs1008379232	p.Gly1050Arg	missense variant	-	NC_000001.11:g.23088978C>T	TOPMed
rs781520796	p.Gln1052Arg	missense variant	-	NC_000001.11:g.23088971T>C	ExAC,gnomAD
rs1339215388	p.Glu1056Gly	missense variant	-	NC_000001.11:g.23088959T>C	TOPMed,gnomAD
rs766917807	p.Glu1056Gln	missense variant	-	NC_000001.11:g.23088960C>G	ExAC,TOPMed,gnomAD
rs766917807	p.Glu1056Ter	stop gained	-	NC_000001.11:g.23088960C>A	ExAC,TOPMed,gnomAD
COSM4029677	p.Gly1058Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23088953C>A	NCI-TCGA Cosmic
rs750500052	p.Arg1059Ter	stop gained	-	NC_000001.11:g.23088951G>A	ExAC,TOPMed,gnomAD
rs765432348	p.Arg1059Gln	missense variant	-	NC_000001.11:g.23088950C>T	ExAC,TOPMed,gnomAD
rs34961909	p.Arg1061Trp	missense variant	-	NC_000001.11:g.23088945G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776971230	p.Arg1061Gln	missense variant	-	NC_000001.11:g.23088944C>T	ExAC,TOPMed,gnomAD
rs200527448	p.Glu1063Lys	missense variant	-	NC_000001.11:g.23088939C>T	ExAC,gnomAD
rs745345544	p.Arg1065Gln	missense variant	-	NC_000001.11:g.23088932C>T	ExAC,TOPMed,gnomAD
rs138641371	p.Arg1065Ter	stop gained	-	NC_000001.11:g.23088933G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138641371	p.Arg1065Gly	missense variant	-	NC_000001.11:g.23088933G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs773742057	p.Arg1067Trp	missense variant	-	NC_000001.11:g.23088927G>A	ExAC,gnomAD
rs770562926	p.Arg1067Gln	missense variant	-	NC_000001.11:g.23088926C>T	ExAC,TOPMed,gnomAD
rs748884405	p.Pro1068Thr	missense variant	-	NC_000001.11:g.23088924G>T	ExAC,gnomAD
rs777439744	p.Thr1069Ala	missense variant	-	NC_000001.11:g.23088921T>C	ExAC,gnomAD
rs755311471	p.Thr1069Ile	missense variant	-	NC_000001.11:g.23088920G>A	ExAC,gnomAD
rs755311471	p.Thr1069Asn	missense variant	-	NC_000001.11:g.23088920G>T	ExAC,gnomAD
rs1221355165	p.Arg1070Gly	missense variant	-	NC_000001.11:g.23088918T>C	gnomAD
rs1183214366	p.Glu1075Ter	stop gained	-	NC_000001.11:g.23088903C>A	gnomAD

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence

GO:Biological Process

GO ID	GO Term	Evidence
GO:0003281	ventricular septum development	IEA
GO:0021503	neural fold bending	IBA
GO:0060840	artery development	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	IEA
GO:0016020	membrane	HDA
GO:0070062	extracellular exosome	HDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C078765	2,3,5-(triglutathion-S-yl)hydroquinone	2,3,5-(triglutathion-S-yl)hydroquinone results in increased ADP-ribosylation of LUZP1 protein	31165168
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of LUZP1 mRNA	21346803
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in decreased expression of LUZP1 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 decreased expression of LUZP1 mRNA	27188386
D000082	Acetaminophen	Acetaminophen results in increased expression of LUZP1 mRNA	22230336
D000082	Acetaminophen	Acetaminophen affects the expression of LUZP1 mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of LUZP1 intron	30157460
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of LUZP1 mRNA	16483693
D000952	Antigens, Polyomavirus Transforming	Antigens, Polyomavirus Transforming results in increased expression of LUZP1 mRNA	26680231
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of LUZP1 mRNA	24449571
D017638	Asbestos, Crocidolite	Asbestos, Crocidolite affects the expression of LUZP1 mRNA	24160326
D017632	Asbestos, Serpentine	Asbestos, Serpentine affects the expression of LUZP1 mRNA	24160326
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of LUZP1 mRNA	19770486
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of LUZP1 mRNA	22228805
C044887	beta-methylcholine	beta-methylcholine affects the expression of LUZP1 mRNA	21179406
C006780	bisphenol A	bisphenol A results in decreased methylation of LUZP1 intron	30906313
C006780	bisphenol A	bisphenol A results in increased expression of LUZP1 mRNA	25181051
C013418	bromfenacoum	bromfenacoum results in decreased expression of LUZP1 protein	28903499
D002104	Cadmium	Cadmium results in decreased expression of LUZP1 mRNA	23369406
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of LUZP1 mRNA	24982889
D002220	Carbamazepine	Carbamazepine affects the expression of LUZP1 mRNA	25979313
C074702	chromium hexavalent ion	chromium hexavalent ion affects the expression of LUZP1 mRNA	28472532
D002945	Cisplatin	Cisplatin results in increased expression of LUZP1 mRNA	27392435
D002945	Cisplatin	Cisplatin results in decreased expression of LUZP1 protein	22023808
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of LUZP1 mRNA	19320972
D016572	Cyclosporine	Cyclosporine results in decreased expression of LUZP1 mRNA	27989131
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of LUZP1 mRNA	21266533
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 decreased expression of LUZP1 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in increased oxidation of LUZP1 protein	28818578
D004791	Enzyme Inhibitors	[Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation of LUZP1 protein	23301498
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of LUZP1 mRNA	23129252
D005742	Gasoline	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of LUZP1 mRNA	29432896
D005947	Glucose	[INS protein co-treated with Glucose] results in increased expression of LUZP1 mRNA	22634610
C000593030	GSK-J4	GSK-J4 results in increased expression of LUZP1 mRNA	29301935
C040507	isobutyl alcohol	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of LUZP1 mRNA	29432896
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of LUZP1 mRNA	28001369
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of LUZP1 mRNA	26011545
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of LUZP1 mRNA	25554681
D009534	Niclosamide	Niclosamide results in increased expression of LUZP1 mRNA	31398420
D052638	Particulate Matter	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of LUZP1 mRNA	29432896
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of LUZP1 mRNA	29432896
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of LUZP1 mRNA	24780913
D012715	Sesame Oil	Sesame Oil results in increased expression of LUZP1 mRNA	29191790
D012822	Silicon Dioxide	Silicon Dioxide analog results in increased expression of LUZP1 mRNA	25895662
D000077210	Sunitinib	Sunitinib results in decreased expression of LUZP1 mRNA	31533062
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of LUZP1 mRNA	21570461; 26377647;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of LUZP1 mRNA	22298810
D013849	Thimerosal	Thimerosal results in decreased expression of LUZP1 mRNA	24675092
C009495	titanium dioxide	titanium dioxide results in decreased expression of LUZP1 mRNA	23557971
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 decreased expression of LUZP1 mRNA	27188386
C012589	trichostatin A	trichostatin A affects the expression of LUZP1 mRNA	28542535
C012589	trichostatin A	trichostatin A results in decreased expression of LUZP1 mRNA	26272509
D000077288	Troglitazone	Troglitazone results in decreased expression of LUZP1 mRNA	28973697
D014520	Urethane	Urethane results in increased expression of LUZP1 mRNA	28818685
D014635	Valproic Acid	Valproic Acid results in decreased expression of LUZP1 mRNA	21427059
C025643	vinclozolin	vinclozolin results in increased expression of LUZP1 mRNA	23555832

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0007	Acetylation
KW-0025	Alternative splicing
KW-0175	Coiled coil
KW-0903	Direct protein sequencing
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR026734	Luzp1

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term

Gene: LUZP1

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

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