CleftGeneDB-Search

Gene: GOLGA5

Basic information

Tag	Content
Uniprot ID	Q8TBA6; C9JRU1; O95287; Q03962; Q2TS49; Q9UQQ7;
Entrez ID	9950
Genbank protein ID	CAA33787.1; AAH23021.1; CAD66551.1; AAD09753.1; EAW81502.1; CAB36967.1; AAV85456.1;
Genbank nucleotide ID	NM_005113.3; XM_011537420.2;
Ensembl protein ID	ENSP00000163416
Ensembl nucleotide ID	ENSG00000066455
Gene name	Golgin subfamily A member 5
Gene symbol	GOLGA5
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Involved in maintaining Golgi structure. Stimulates the formation of Golgi stacks and ribbons. Involved in intra-Golgi retrograde transport.
Sequence	MSWFVDLAGK AEDLLNRVDQ GAATALSRKD NASNIYSKNT DYTELHQQNT DLIYQTGPKS 60 TYISSAADNI RNQKATILAG TANVKVGSRT PVEASHPVEN ASVPRPSSHF VRRKKSEPDD 120 ELLFDFLNSS QKEPTGRVEI RKEKGKTPVF QSSQTSSVSS VNPSVTTIKT IEENSFGSQT 180 HEAASNSDSS HEGQEESSKE NVSSNAACPD HTPTPNDDGK SHELSNLRLE NQLLRNEVQS 240 LNQEMASLLQ RSKETQEELN KARARVEKWN ADHSKSDRMT RGLRAQVDDL TEAVAAKDSQ 300 LAVLKVRLQE ADQLLSTRTE ALEALQSEKS RIMQDQSEGN SLQNQALQTF QERLHEADAT 360 LKREQESYKQ MQSEFAARLN KVEMERQNLA EAITLAERKY SDEKKRVDEL QQQVKLYKLN 420 LESSKQELID YKQKATRILQ SKEKLINSLK EGSGFEGLDS STASSMELEE LRHEKEMQRE 480 EIQKLMGQIH QLRSELQDME AQQVNEAESA REQLQDLHDQ IAGQKASKQE LETELERLKQ 540 EFHYIEEDLY RTKNTLQSRI KDRDEEIQKL RNQLTNKTLS NSSQSELENR LHQLTETLIQ 600 KQTMLESLST EKNSLVFQLE RLEQQMNSAS GSSSNGSSIN MSGIDNGEGT RLRNVPVLFN 660 DTETNLAGMY GKVRKAASSI DQFSIRLGIF LRRYPIARVF VIIYMALLHL WVMIVLLTYT 720 PEMHHDQPYG K 731

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	GOLGA5	510412	A5D7A5		Bos taurus	Prediction	More>>
1:1 ortholog	GOLGA5	480233	E2QWJ2		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	GOLGA5	102168492	A0A452E4E7		Capra hircus	Prediction	More>>
1:1 ortholog	GOLGA5	100053313	A0A3Q2KJX3		Equus caballus	Prediction	More>>
1:1 ortholog	GOLGA5	9950	Q8TBA6		Homo sapiens	Prediction	More>>
1:1 ortholog	Golga5	27277	Q9QYE6	CPO	Mus musculus	Publication	More>>
1:1 ortholog	GOLGA5		H2Q8T6		Pan troglodytes	Prediction	More>>
1:1 ortholog	GOLGA5	100346310	G1TA69		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Golga5	299258	G3V6Z7		Rattus norvegicus	Prediction	More>>
1:1 ortholog	golga5		B8A4N9		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
NCI-TCGA novel	p.Phe4Leu	missense variant	-	NC_000014.9:g.92797447T>C	NCI-TCGA
rs1420964579	p.Val5Ile	missense variant	-	NC_000014.9:g.92797450G>A	gnomAD
rs149593701	p.Asp6Glu	missense variant	-	NC_000014.9:g.92797455T>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu7Pro	missense variant	-	NC_000014.9:g.92797457T>C	NCI-TCGA
NCI-TCGA novel	p.Leu7Ile	missense variant	-	NC_000014.9:g.92797456C>A	NCI-TCGA
rs1052875058	p.Asp13Tyr	missense variant	-	NC_000014.9:g.92797474G>T	gnomAD
rs757865891	p.Leu14Phe	missense variant	-	NC_000014.9:g.92797477C>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu14Ile	missense variant	-	NC_000014.9:g.92797477C>A	NCI-TCGA
rs201501111	p.Arg17Gln	missense variant	-	NC_000014.9:g.92797487G>A	ExAC,TOPMed,gnomAD
rs201501111	p.Arg17Gln	missense variant	-	NC_000014.9:g.92797487G>A	NCI-TCGA
rs1352081961	p.Gln20Arg	missense variant	-	NC_000014.9:g.92797496A>G	TOPMed,gnomAD
rs1177518028	p.Gln20Lys	missense variant	-	NC_000014.9:g.92797495C>A	TOPMed
rs1284959632	p.Ala23Thr	missense variant	-	NC_000014.9:g.92797504G>A	NCI-TCGA Cosmic
rs1284959632	p.Ala23Thr	missense variant	-	NC_000014.9:g.92797504G>A	gnomAD
rs1482689950	p.Thr24Ala	missense variant	-	NC_000014.9:g.92797507A>G	TOPMed
rs781774988	p.Ala25Thr	missense variant	-	NC_000014.9:g.92797510G>A	ExAC,gnomAD
rs1255827601	p.Ser27Arg	missense variant	-	NC_000014.9:g.92797516A>C	TOPMed
rs1239057719	p.Asp30His	missense variant	-	NC_000014.9:g.92797525G>C	gnomAD
rs201328765	p.Asn31Ser	missense variant	-	NC_000014.9:g.92797529A>G	1000Genomes,ExAC,gnomAD
rs201328765	p.Asn31Thr	missense variant	-	NC_000014.9:g.92797529A>C	1000Genomes,ExAC,gnomAD
rs1444988498	p.Asn31Asp	missense variant	-	NC_000014.9:g.92797528A>G	gnomAD
rs563117542	p.Ile35Met	missense variant	-	NC_000014.9:g.92797542A>G	TOPMed,gnomAD
rs1400802763	p.Tyr36Cys	missense variant	-	NC_000014.9:g.92797544A>G	gnomAD
rs1158645842	p.Tyr36His	missense variant	-	NC_000014.9:g.92797543T>C	TOPMed,gnomAD
rs1412467809	p.Ser37Ile	missense variant	-	NC_000014.9:g.92797547G>T	gnomAD
rs1341179863	p.Lys38Asn	missense variant	-	NC_000014.9:g.92797551A>C	TOPMed
rs1335745910	p.Asn39Thr	missense variant	-	NC_000014.9:g.92797553A>C	gnomAD
rs749480282	p.Thr40Ile	missense variant	-	NC_000014.9:g.92797556C>T	ExAC,TOPMed,gnomAD
rs1453862054	p.Thr40Ala	missense variant	-	NC_000014.9:g.92797555A>G	gnomAD
rs768992142	p.Asp41His	missense variant	-	NC_000014.9:g.92797558G>C	ExAC,gnomAD
rs1241726709	p.Tyr42Cys	missense variant	-	NC_000014.9:g.92797562A>G	gnomAD
rs1198992050	p.Thr50Ala	missense variant	-	NC_000014.9:g.92797585A>G	gnomAD
rs776576975	p.Asp51Gly	missense variant	-	NC_000014.9:g.92797589A>G	ExAC,gnomAD
rs759273994	p.Ile53Met	missense variant	-	NC_000014.9:g.92797596A>G	ExAC,gnomAD
rs775140712	p.Tyr54Ter	stop gained	-	NC_000014.9:g.92797599T>A	ExAC,gnomAD
rs764953832	p.Tyr54Asp	missense variant	-	NC_000014.9:g.92797597T>G	ExAC,gnomAD
rs146787240	p.Gln55His	missense variant	-	NC_000014.9:g.92797602G>C	ESP,ExAC,TOPMed,gnomAD
rs763863424	p.Thr56Ile	missense variant	-	NC_000014.9:g.92797604C>T	ExAC,gnomAD
rs768088371	p.Lys59Thr	missense variant	-	NC_000014.9:g.92797613A>C	ExAC,gnomAD
rs111348610	p.Thr61Lys	missense variant	-	NC_000014.9:g.92797619C>A	ESP,ExAC,TOPMed,gnomAD
rs111348610	p.Thr61Met	missense variant	-	NC_000014.9:g.92797619C>T	ESP,ExAC,TOPMed,gnomAD
rs780281785	p.Tyr62Cys	missense variant	-	NC_000014.9:g.92797622A>G	ExAC,gnomAD
rs754288879	p.Ser64Pro	missense variant	-	NC_000014.9:g.92797627T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser64Leu	missense variant	-	NC_000014.9:g.92797628C>T	NCI-TCGA
COSM958894	p.Ser64Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.92797628C>A	NCI-TCGA Cosmic
rs1330110488	p.Ser65Ala	missense variant	-	NC_000014.9:g.92797630T>G	gnomAD
rs17128572	p.Ala67Gly	missense variant	-	NC_000014.9:g.92797637C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1231193359	p.Asn69Ser	missense variant	-	NC_000014.9:g.92797643A>G	gnomAD
COSM4053080	p.Asn69Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92797643A>C	NCI-TCGA Cosmic
rs1285230046	p.Ile70Met	missense variant	-	NC_000014.9:g.92797647T>G	gnomAD
rs554607146	p.Arg71Gln	missense variant	-	NC_000014.9:g.92797649G>A	1000Genomes,ExAC,gnomAD
rs554607146	p.Arg71Gln	missense variant	-	NC_000014.9:g.92797649G>A	NCI-TCGA,NCI-TCGA Cosmic
rs748184546	p.Gln73Lys	missense variant	-	NC_000014.9:g.92797654C>A	ExAC,TOPMed,gnomAD
rs1422943348	p.Ala75Asp	missense variant	-	NC_000014.9:g.92797661C>A	TOPMed
rs1255982895	p.Ala75Thr	missense variant	-	NC_000014.9:g.92797660G>A	gnomAD
rs772158192	p.Thr76Asn	missense variant	-	NC_000014.9:g.92797664C>A	ExAC,TOPMed,gnomAD
rs866299587	p.Ala79Val	missense variant	-	NC_000014.9:g.92797673C>T	gnomAD
COSM1128170	p.Thr81Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92797678A>C	NCI-TCGA Cosmic
rs368970852	p.Val84Met	missense variant	-	NC_000014.9:g.92797687G>A	ESP,ExAC,gnomAD
COSM958895	p.Ser88Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92797700C>T	NCI-TCGA Cosmic
rs372390722	p.Arg89Gln	missense variant	-	NC_000014.9:g.92797703G>A	ESP,ExAC,TOPMed,gnomAD
rs568247621	p.Arg89Trp	missense variant	-	NC_000014.9:g.92797702C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs372390722	p.Arg89Gln	missense variant	-	NC_000014.9:g.92797703G>A	NCI-TCGA
rs762853769	p.Pro91Gln	missense variant	-	NC_000014.9:g.92797709C>A	ExAC,gnomAD
rs1421986586	p.Val92Ala	missense variant	-	NC_000014.9:g.92797712T>C	gnomAD
rs141029204	p.Glu93Lys	missense variant	-	NC_000014.9:g.92797714G>A	ESP,ExAC,TOPMed,gnomAD
rs1385530985	p.Ser95Pro	missense variant	-	NC_000014.9:g.92797720T>C	gnomAD
rs1305047251	p.Val98Ile	missense variant	-	NC_000014.9:g.92797729G>A	gnomAD
rs1399671553	p.Ala101Ser	missense variant	-	NC_000014.9:g.92797738G>T	gnomAD
rs761077825	p.Ser102Cys	missense variant	-	NC_000014.9:g.92797742C>G	ExAC,gnomAD
COSM958896	p.Ser102Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92797741T>C	NCI-TCGA Cosmic
rs537022332	p.Val103Leu	missense variant	-	NC_000014.9:g.92797744G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs537022332	p.Val103Ile	missense variant	-	NC_000014.9:g.92797744G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1227923629	p.Pro104Ser	missense variant	-	NC_000014.9:g.92797747C>T	NCI-TCGA
rs1227923629	p.Pro104Ser	missense variant	-	NC_000014.9:g.92797747C>T	TOPMed,gnomAD
rs1264566364	p.Pro104Leu	missense variant	-	NC_000014.9:g.92797748C>T	gnomAD
rs201517262	p.Arg105Thr	missense variant	-	NC_000014.9:g.92797751G>C	ExAC,TOPMed,gnomAD
rs1354177746	p.Arg105Gly	missense variant	-	NC_000014.9:g.92797750A>G	TOPMed,gnomAD
rs1354177746	p.Arg105Trp	missense variant	-	NC_000014.9:g.92797750A>T	TOPMed,gnomAD
rs891447266	p.Pro106Leu	missense variant	-	NC_000014.9:g.92797754C>T	gnomAD
COSM3499026	p.Ser107Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.92797757C>A	NCI-TCGA Cosmic
rs752927689	p.Ser108Phe	missense variant	-	NC_000014.9:g.92797760C>T	ExAC,TOPMed,gnomAD
rs994114647	p.His109Arg	missense variant	-	NC_000014.9:g.92797763A>G	TOPMed
rs777823905	p.Phe110Val	missense variant	-	NC_000014.9:g.92797765T>G	ExAC,TOPMed,gnomAD
rs747171055	p.Phe110Leu	missense variant	-	NC_000014.9:g.92797767T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe110LeuPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.92797764T>-	NCI-TCGA
rs769596121	p.Val111Leu	missense variant	-	NC_000014.9:g.92797768G>T	ExAC,gnomAD
rs768396335	p.Arg112Gln	missense variant	-	NC_000014.9:g.92797772G>A	ExAC,TOPMed,gnomAD
rs780072747	p.Arg112Gly	missense variant	-	NC_000014.9:g.92797771C>G	ExAC,gnomAD
rs780072747	p.Arg112Ter	stop gained	-	NC_000014.9:g.92797771C>T	ExAC,gnomAD
rs774082205	p.Arg113Lys	missense variant	-	NC_000014.9:g.92797775G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg113Ile	missense variant	-	NC_000014.9:g.92797775G>T	NCI-TCGA
rs1296373182	p.Lys114Asn	missense variant	-	NC_000014.9:g.92797779A>T	gnomAD
rs1419197969	p.Lys114Arg	missense variant	-	NC_000014.9:g.92797778A>G	gnomAD
rs1026520489	p.Lys115Thr	missense variant	-	NC_000014.9:g.92797781A>C	TOPMed,gnomAD
NCI-TCGA novel	p.Lys115Gln	missense variant	-	NC_000014.9:g.92797780A>C	NCI-TCGA
NCI-TCGA novel	p.Ser116Ter	stop gained	-	NC_000014.9:g.92797784C>G	NCI-TCGA
rs761556497	p.Asp119Asn	missense variant	-	NC_000014.9:g.92797792G>A	ExAC,TOPMed,gnomAD
rs145331070	p.Asp119Glu	missense variant	-	NC_000014.9:g.92797794T>G	1000Genomes,ExAC,gnomAD
rs1033897200	p.Asp120Ala	missense variant	-	NC_000014.9:g.92797796A>C	gnomAD
rs1033897200	p.Asp120Val	missense variant	-	NC_000014.9:g.92797796A>T	gnomAD
rs772578887	p.Glu121Val	missense variant	-	NC_000014.9:g.92797799A>T	ExAC,gnomAD
rs1292387370	p.Leu123Arg	missense variant	-	NC_000014.9:g.92797805T>G	gnomAD
rs1352836050	p.Asp125Tyr	missense variant	-	NC_000014.9:g.92797810G>T	gnomAD
rs577055972	p.Leu127Arg	missense variant	-	NC_000014.9:g.92797817T>G	1000Genomes,ExAC,gnomAD
rs760276060	p.Leu127Phe	missense variant	-	NC_000014.9:g.92797816C>T	ExAC,gnomAD
COSM4896246	p.Asn128Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92797819A>G	NCI-TCGA Cosmic
COSM4843464	p.Ser130Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92797826C>T	NCI-TCGA Cosmic
rs759759384	p.Lys132Arg	missense variant	-	NC_000014.9:g.92797832A>G	ExAC,TOPMed,gnomAD
rs149196374	p.Pro134Arg	missense variant	-	NC_000014.9:g.92797838C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs764349513	p.Gly136Arg	missense variant	-	NC_000014.9:g.92797843G>A	ExAC,gnomAD
rs1386442489	p.Gly136Glu	missense variant	-	NC_000014.9:g.92797844G>A	gnomAD
rs1439549805	p.Arg137Met	missense variant	-	NC_000014.9:g.92797847G>T	gnomAD
rs1355769025	p.Arg137Trp	missense variant	-	NC_000014.9:g.92797846A>T	TOPMed
rs1156943339	p.Val138Leu	missense variant	-	NC_000014.9:g.92797849G>T	gnomAD
rs1247447448	p.Glu139Ala	missense variant	-	NC_000014.9:g.92797853A>C	gnomAD
rs1347023174	p.Arg141Ser	missense variant	-	NC_000014.9:g.92797860A>T	gnomAD
rs751560647	p.Lys142Thr	missense variant	-	NC_000014.9:g.92797862A>C	ExAC,gnomAD
rs751560647	p.Lys142Arg	missense variant	-	NC_000014.9:g.92797862A>G	ExAC,gnomAD
rs1258713511	p.Gly145Arg	missense variant	-	NC_000014.9:g.92797870G>C	TOPMed
COSM1323330	p.Lys146Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92797875G>C	NCI-TCGA Cosmic
rs757380809	p.Pro148Leu	missense variant	-	NC_000014.9:g.92797880C>T	ExAC,gnomAD
rs1399865076	p.Pro148Ser	missense variant	-	NC_000014.9:g.92797879C>T	TOPMed,gnomAD
rs749255638	p.Phe150Val	missense variant	-	NC_000014.9:g.92797885T>G	ExAC,gnomAD
rs755034600	p.Gln151Arg	missense variant	-	NC_000014.9:g.92797889A>G	ExAC,TOPMed,gnomAD
rs1332814006	p.Ser152Gly	missense variant	-	NC_000014.9:g.92797891A>G	TOPMed
rs748009930	p.Ser153Pro	missense variant	-	NC_000014.9:g.92797894T>C	NCI-TCGA Cosmic
rs748009930	p.Ser153Ala	missense variant	-	NC_000014.9:g.92797894T>G	ExAC,TOPMed,gnomAD
rs748009930	p.Ser153Pro	missense variant	-	NC_000014.9:g.92797894T>C	ExAC,TOPMed,gnomAD
rs961384993	p.Gln154Glu	missense variant	-	NC_000014.9:g.92797897C>G	TOPMed,gnomAD
rs771822697	p.Thr155Ile	missense variant	-	NC_000014.9:g.92797901C>T	ExAC,TOPMed,gnomAD
rs35729851	p.Ser157Gly	missense variant	-	NC_000014.9:g.92797906A>G	ESP,ExAC,TOPMed,gnomAD
rs1457753058	p.Ser157Asn	missense variant	-	NC_000014.9:g.92797907G>A	gnomAD
COSM958898	p.Ser159Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92797913G>A	NCI-TCGA Cosmic
rs770485468	p.Ser160Cys	missense variant	-	NC_000014.9:g.92797916C>G	ExAC,TOPMed,gnomAD
rs1419727831	p.Pro163Ser	missense variant	-	NC_000014.9:g.92797924C>T	gnomAD
rs765790077	p.Ser164Asn	missense variant	-	NC_000014.9:g.92797928G>A	ExAC,gnomAD
rs760030435	p.Ser164Gly	missense variant	-	NC_000014.9:g.92797927A>G	ExAC,TOPMed
rs1420822335	p.Ser164Arg	missense variant	-	NC_000014.9:g.92797929T>G	TOPMed,gnomAD
rs142921167	p.Val165Ala	missense variant	-	NC_000014.9:g.92797931T>C	ESP,TOPMed,gnomAD
rs1337164224	p.Ile168Thr	missense variant	-	NC_000014.9:g.92797940T>C	gnomAD
rs1471042050	p.Ile168Val	missense variant	-	NC_000014.9:g.92797939A>G	gnomAD
rs775810727	p.Lys169Gln	missense variant	-	NC_000014.9:g.92797942A>C	ExAC
rs763346887	p.Lys169Arg	missense variant	-	NC_000014.9:g.92797943A>G	ExAC,TOPMed,gnomAD
rs1238927983	p.Ile171Thr	missense variant	-	NC_000014.9:g.92797949T>C	TOPMed
rs1444560507	p.Ile171Val	missense variant	-	NC_000014.9:g.92797948A>G	gnomAD
NCI-TCGA novel	p.Glu173Ter	stop gained	-	NC_000014.9:g.92797954G>T	NCI-TCGA
rs1299783976	p.Asn174His	missense variant	-	NC_000014.9:g.92797957A>C	gnomAD
rs950036691	p.Asn174Ser	missense variant	-	NC_000014.9:g.92797958A>G	TOPMed
NCI-TCGA novel	p.Ser175Cys	missense variant	-	NC_000014.9:g.92797961C>G	NCI-TCGA
rs764175277	p.Phe176Ser	missense variant	-	NC_000014.9:g.92797964T>C	ExAC,TOPMed,gnomAD
rs751820228	p.Gly177Trp	missense variant	-	NC_000014.9:g.92797966G>T	ExAC,gnomAD
rs757219754	p.Ser178Cys	missense variant	-	NC_000014.9:g.92797969A>T	ExAC,gnomAD
rs370631881	p.Ser178Asn	missense variant	-	NC_000014.9:g.92797970G>A	ESP,ExAC,TOPMed,gnomAD
rs370631881	p.Ser178Thr	missense variant	-	NC_000014.9:g.92797970G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser178Gly	missense variant	-	NC_000014.9:g.92797969A>G	NCI-TCGA
rs1264214072	p.Thr180Ile	missense variant	-	NC_000014.9:g.92797976C>T	TOPMed,gnomAD
rs1264214072	p.Thr180Ser	missense variant	-	NC_000014.9:g.92797976C>G	TOPMed,gnomAD
rs1235127487	p.Glu182Lys	missense variant	-	NC_000014.9:g.92797981G>A	gnomAD
rs374737199	p.Ala183Ser	missense variant	-	NC_000014.9:g.92806738G>T	ESP,ExAC,gnomAD
rs1222202103	p.Ser187Leu	missense variant	-	NC_000014.9:g.92806751C>T	TOPMed
rs571035389	p.Asp188Gly	missense variant	-	NC_000014.9:g.92806754A>G	1000Genomes,ExAC,gnomAD
rs146398576	p.Ser190Arg	missense variant	-	NC_000014.9:g.92806759A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1416859338	p.Gly193Cys	missense variant	-	NC_000014.9:g.92806768G>T	TOPMed
rs946749224	p.Gly193Val	missense variant	-	NC_000014.9:g.92806769G>T	TOPMed,gnomAD
rs1363089652	p.Gln194Ter	stop gained	-	NC_000014.9:g.92806771C>T	gnomAD
rs1228295574	p.Ser198Leu	missense variant	-	NC_000014.9:g.92806784C>T	gnomAD
rs762126649	p.Ser198Pro	missense variant	-	NC_000014.9:g.92806783T>C	ExAC
rs753745020	p.Lys199Glu	missense variant	-	NC_000014.9:g.92806786A>G	ExAC,TOPMed,gnomAD
rs979805043	p.Glu200Lys	missense variant	-	NC_000014.9:g.92806789G>A	TOPMed,gnomAD
COSM433497	p.Val202Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92806795G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser203Ter	stop gained	-	NC_000014.9:g.92806799C>G	NCI-TCGA
rs1445551974	p.Ser204Pro	missense variant	-	NC_000014.9:g.92806801T>C	TOPMed,gnomAD
rs1242524899	p.Asn205Ser	missense variant	-	NC_000014.9:g.92806805A>G	gnomAD
rs773594321	p.Asn205Asp	missense variant	-	NC_000014.9:g.92806804A>G	ExAC,gnomAD
rs766567893	p.Cys208Phe	missense variant	-	NC_000014.9:g.92806814G>T	ExAC,gnomAD
rs921518124	p.Pro209Thr	missense variant	-	NC_000014.9:g.92806816C>A	TOPMed
rs754036168	p.Pro209Leu	missense variant	-	NC_000014.9:g.92806817C>T	ExAC,gnomAD
COSM4053082	p.Pro209Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92806817C>G	NCI-TCGA Cosmic
rs1474032750	p.His211Pro	missense variant	-	NC_000014.9:g.92806823A>C	TOPMed
rs762931346	p.Thr212Ala	missense variant	-	NC_000014.9:g.92806825A>G	ExAC,gnomAD
rs148037758	p.Thr212Ser	missense variant	-	NC_000014.9:g.92806826C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148037758	p.Thr212Asn	missense variant	-	NC_000014.9:g.92806826C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro213GlnPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.92806826C>-	NCI-TCGA
rs1051240704	p.Thr214Ala	missense variant	-	NC_000014.9:g.92806831A>G	TOPMed,gnomAD
rs1051240704	p.Thr214Pro	missense variant	-	NC_000014.9:g.92806831A>C	TOPMed,gnomAD
rs1318534847	p.Thr214Ile	missense variant	-	NC_000014.9:g.92806832C>T	TOPMed,gnomAD
rs1452401026	p.Pro215Arg	missense variant	-	NC_000014.9:g.92806835C>G	gnomAD
rs1346211666	p.Pro215Ser	missense variant	-	NC_000014.9:g.92806834C>T	gnomAD
rs757033796	p.Asn216Ser	missense variant	-	NC_000014.9:g.92806838A>G	ExAC,TOPMed,gnomAD
rs1464787041	p.Asp218Val	missense variant	-	NC_000014.9:g.92806844A>T	TOPMed
rs1273928358	p.Gly219Ser	missense variant	-	NC_000014.9:g.92806846G>A	TOPMed
rs1385636489	p.Gly219Asp	missense variant	-	NC_000014.9:g.92806847G>A	TOPMed,gnomAD
rs1279106710	p.Lys220Arg	missense variant	-	NC_000014.9:g.92806850A>G	TOPMed,gnomAD
rs1279106710	p.Lys220Thr	missense variant	-	NC_000014.9:g.92806850A>C	TOPMed,gnomAD
rs750082044	p.Glu223Gln	missense variant	-	NC_000014.9:g.92806858G>C	ExAC,gnomAD
COSM1293527	p.Glu223Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92806858G>A	NCI-TCGA Cosmic
rs1285243812	p.Leu224Pro	missense variant	-	NC_000014.9:g.92806862T>C	gnomAD
rs375259318	p.Arg228Gln	missense variant	-	NC_000014.9:g.92806874G>A	ESP,ExAC,TOPMed,gnomAD
rs1390879329	p.Arg228Ter	stop gained	-	NC_000014.9:g.92806873C>T	TOPMed,gnomAD
rs755482646	p.Glu230Ala	missense variant	-	NC_000014.9:g.92806880A>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu230Asp	missense variant	-	NC_000014.9:g.92806881G>T	NCI-TCGA
NCI-TCGA novel	p.Arg235Met	missense variant	-	NC_000014.9:g.92806895G>T	NCI-TCGA
rs1459382698	p.Asn236Ser	missense variant	-	NC_000014.9:g.92806898A>G	TOPMed
rs779322105	p.Asn236Asp	missense variant	-	NC_000014.9:g.92806897A>G	ExAC,gnomAD
rs748501039	p.Gln239Arg	missense variant	-	NC_000014.9:g.92806907A>G	ExAC,TOPMed,gnomAD
rs1424070658	p.Leu241Ser	missense variant	-	NC_000014.9:g.92806913T>C	gnomAD
rs1170691651	p.Gln243Arg	missense variant	-	NC_000014.9:g.92806919A>G	TOPMed
COSM3793969	p.Gln243Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92806918C>G	NCI-TCGA Cosmic
COSM958899	p.Glu244Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.92806921G>T	NCI-TCGA Cosmic
rs1467849427	p.Met245Leu	missense variant	-	NC_000014.9:g.92806924A>C	TOPMed,gnomAD
rs1467849427	p.Met245Val	missense variant	-	NC_000014.9:g.92806924A>G	TOPMed,gnomAD
rs772332709	p.Ala246Thr	missense variant	-	NC_000014.9:g.92806927G>A	ExAC,gnomAD
rs150641129	p.Ser247Leu	missense variant	-	NC_000014.9:g.92806931C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs771334225	p.Leu248Phe	missense variant	-	NC_000014.9:g.92806935A>T	ExAC,TOPMed,gnomAD
rs368665594	p.Gln250Arg	missense variant	-	NC_000014.9:g.92806940A>G	ESP,ExAC,TOPMed,gnomAD
rs1444495349	p.Lys253Glu	missense variant	-	NC_000014.9:g.92806948A>G	gnomAD
rs371880770	p.Thr255Ser	missense variant	-	NC_000014.9:g.92806955C>G	ESP,ExAC,TOPMed,gnomAD
rs1221899730	p.Gln256Ter	stop gained	-	NC_000014.9:g.92806957C>T	gnomAD
rs200228925	p.Gln256Arg	missense variant	-	NC_000014.9:g.92806958A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1245198790	p.Gln256His	missense variant	-	NC_000014.9:g.92806959A>C	TOPMed,gnomAD
COSM699063	p.Glu257Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.92806960G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu258Ter	stop gained	-	NC_000014.9:g.92806963G>T	NCI-TCGA
rs1477251405	p.Leu259Val	missense variant	-	NC_000014.9:g.92809302T>G	gnomAD
rs1371690357	p.Lys261Glu	missense variant	-	NC_000014.9:g.92809308A>G	TOPMed,gnomAD
rs1157843193	p.Ala264Gly	missense variant	-	NC_000014.9:g.92809318C>G	TOPMed
rs745911234	p.Val266Ile	missense variant	-	NC_000014.9:g.92809323G>A	ExAC,gnomAD
rs1168971513	p.Lys268Asn	missense variant	-	NC_000014.9:g.92809331G>C	gnomAD
rs1422846446	p.Asn270Ser	missense variant	-	NC_000014.9:g.92809336A>G	gnomAD
rs769776684	p.Asn270Asp	missense variant	-	NC_000014.9:g.92809335A>G	ExAC,gnomAD
rs1369913599	p.Ala271Thr	missense variant	-	NC_000014.9:g.92809338G>A	TOPMed
rs1304992631	p.Asp272His	missense variant	-	NC_000014.9:g.92809341G>C	gnomAD
rs754276162	p.Ser274Pro	missense variant	-	NC_000014.9:g.92809347T>C	ExAC,TOPMed,gnomAD
rs761644011	p.Ser274Leu	missense variant	-	NC_000014.9:g.92809348C>T	ExAC,gnomAD
COSM6076546	p.Lys275Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92809350A>C	NCI-TCGA Cosmic
rs1314317080	p.Asp277Glu	missense variant	-	NC_000014.9:g.92809358T>A	gnomAD
rs1357134891	p.Arg278Gly	missense variant	-	NC_000014.9:g.92809359C>G	gnomAD
rs1357134891	p.Arg278Ter	stop gained	-	NC_000014.9:g.92809359C>T	gnomAD
rs772961779	p.Arg278Gln	missense variant	-	NC_000014.9:g.92809360G>A	ExAC,TOPMed,gnomAD
rs34515753	p.Arg281Gln	missense variant	-	NC_000014.9:g.92809369G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs765970582	p.Arg281Ter	stop gained	-	NC_000014.9:g.92809368C>T	ExAC,gnomAD
rs754439958	p.Gly282Arg	missense variant	-	NC_000014.9:g.92809371G>A	ExAC,TOPMed,gnomAD
rs114206362	p.Arg284Gln	missense variant	-	NC_000014.9:g.92809378G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1443253273	p.Ala285Val	missense variant	-	NC_000014.9:g.92809381C>T	gnomAD
rs757717660	p.Asp289Asn	missense variant	-	NC_000014.9:g.92809392G>A	ExAC,gnomAD
rs1382598099	p.Asp289Ala	missense variant	-	NC_000014.9:g.92809393A>C	gnomAD
COSM3499027	p.Ala293Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92809405C>A	NCI-TCGA Cosmic
rs781418053	p.Val294Met	missense variant	-	NC_000014.9:g.92809407G>A	ExAC,gnomAD
rs746073845	p.Lys297Glu	missense variant	-	NC_000014.9:g.92809416A>G	ExAC
rs1395259524	p.Gln300Arg	missense variant	-	NC_000014.9:g.92809426A>G	gnomAD
rs1244466689	p.Leu304Pro	missense variant	-	NC_000014.9:g.92809438T>C	TOPMed
rs1313298333	p.Lys305Glu	missense variant	-	NC_000014.9:g.92809440A>G	gnomAD
rs1359313184	p.Val306Met	missense variant	-	NC_000014.9:g.92809443G>A	TOPMed
rs1342203360	p.Gln309Pro	missense variant	-	NC_000014.9:g.92809453A>C	gnomAD
rs1315224425	p.Gln309Glu	missense variant	-	NC_000014.9:g.92809452C>G	gnomAD
rs1236495226	p.Ala311Pro	missense variant	-	NC_000014.9:g.92809458G>C	gnomAD
rs771959999	p.Asp312Asn	missense variant	-	NC_000014.9:g.92809461G>A	ExAC,gnomAD
rs760408276	p.Ser316Thr	missense variant	-	NC_000014.9:g.92809474G>C	ExAC,gnomAD
rs369757501	p.Arg318Cys	missense variant	-	NC_000014.9:g.92809479C>T	ESP,ExAC,TOPMed,gnomAD
rs779569127	p.Arg318His	missense variant	-	NC_000014.9:g.92809480G>A	ExAC,gnomAD
rs779569127	p.Arg318Leu	missense variant	-	NC_000014.9:g.92809480G>T	ExAC,gnomAD
rs1317914661	p.Glu323Gln	missense variant	-	NC_000014.9:g.92809494G>C	TOPMed
rs764987347	p.Ala324Val	missense variant	-	NC_000014.9:g.92809498C>T	ExAC,TOPMed,gnomAD
rs1301020193	p.Ser327Gly	missense variant	-	NC_000014.9:g.92809506A>G	TOPMed
rs1365761178	p.Glu328Lys	missense variant	-	NC_000014.9:g.92809509G>A	gnomAD
rs1423980106	p.Lys329Glu	missense variant	-	NC_000014.9:g.92809512A>G	TOPMed
rs1454446678	p.Lys329Arg	missense variant	-	NC_000014.9:g.92809513A>G	gnomAD
rs1054547621	p.Lys329Asn	missense variant	-	NC_000014.9:g.92809514A>C	TOPMed
rs1175511122	p.Arg331Ter	stop gained	-	NC_000014.9:g.92809518C>T	gnomAD
rs752115335	p.Arg331Gln	missense variant	-	NC_000014.9:g.92809519G>A	ExAC,TOPMed,gnomAD
rs964929924	p.Met333Thr	missense variant	-	NC_000014.9:g.92810259T>C	TOPMed
rs1445831607	p.Met333Ile	missense variant	-	NC_000014.9:g.92810260G>A	TOPMed,gnomAD
rs759413768	p.Gln334Arg	missense variant	-	NC_000014.9:g.92810262A>G	ExAC,TOPMed,gnomAD
rs776264383	p.Gln334Glu	missense variant	-	NC_000014.9:g.92810261C>G	ExAC,gnomAD
rs1225735273	p.Asp335Val	missense variant	-	NC_000014.9:g.92810265A>T	gnomAD
NCI-TCGA novel	p.Gln336Ter	stop gained	-	NC_000014.9:g.92810267C>T	NCI-TCGA
rs200513284	p.Gly339Ser	missense variant	-	NC_000014.9:g.92810276G>A	1000Genomes,ExAC,gnomAD
rs1282996534	p.Ser341Ile	missense variant	-	NC_000014.9:g.92810283G>T	TOPMed
rs1203026126	p.Ser341Gly	missense variant	-	NC_000014.9:g.92810282A>G	gnomAD
rs1483412304	p.Gln343Arg	missense variant	-	NC_000014.9:g.92810289A>G	gnomAD
rs1253189509	p.Gln343Ter	stop gained	-	NC_000014.9:g.92810288C>T	gnomAD
rs1392522945	p.Asn344Ser	missense variant	-	NC_000014.9:g.92810292A>G	TOPMed
rs762492990	p.Gln348His	missense variant	-	NC_000014.9:g.92810305G>C	ExAC,gnomAD
rs368926369	p.Thr349Ser	missense variant	-	NC_000014.9:g.92810307C>G	ESP,TOPMed,gnomAD
rs1296581606	p.Thr349Ala	missense variant	-	NC_000014.9:g.92810306A>G	TOPMed
rs1040835	p.Phe350Leu	missense variant	-	NC_000014.9:g.92810309T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs554824244	p.Gln351His	missense variant	-	NC_000014.9:g.92810314G>C	1000Genomes,ExAC,gnomAD
rs933781806	p.Gln351Leu	missense variant	-	NC_000014.9:g.92810313A>T	TOPMed
rs554824244	p.Gln351His	missense variant	-	NC_000014.9:g.92810314G>T	1000Genomes,ExAC,gnomAD
rs1428371066	p.Arg353Ile	missense variant	-	NC_000014.9:g.92810319G>T	TOPMed
rs183339423	p.Leu354Pro	missense variant	-	NC_000014.9:g.92810322T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs183339423	p.Leu354Gln	missense variant	-	NC_000014.9:g.92810322T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1423485238	p.His355Arg	missense variant	-	NC_000014.9:g.92810325A>G	gnomAD
rs756526740	p.His355Asn	missense variant	-	NC_000014.9:g.92810324C>A	ExAC,gnomAD
rs150067618	p.Ala357Val	missense variant	-	NC_000014.9:g.92810331C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs941014977	p.Asp358Asn	missense variant	-	NC_000014.9:g.92810333G>A	TOPMed
rs1426811274	p.Ala359Gly	missense variant	-	NC_000014.9:g.92810337C>G	gnomAD
COSM3968974	p.Thr360Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92810340C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu361Met	missense variant	-	NC_000014.9:g.92810342C>A	NCI-TCGA
COSM3815556	p.Leu361Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92810342C>G	NCI-TCGA Cosmic
rs753943743	p.Lys362Asn	missense variant	-	NC_000014.9:g.92810347G>C	ExAC,gnomAD
rs1298406264	p.Glu364Gly	missense variant	-	NC_000014.9:g.92810352A>G	gnomAD
rs755264599	p.Ser367Asn	missense variant	-	NC_000014.9:g.92810361G>A	ExAC,TOPMed,gnomAD
rs1221853733	p.Gln370Pro	missense variant	-	NC_000014.9:g.92810370A>C	gnomAD
rs557151106	p.Met371Val	missense variant	-	NC_000014.9:g.92810372A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1159772274	p.Ser373Asn	missense variant	-	NC_000014.9:g.92811552G>A	TOPMed
rs142273431	p.Glu374Lys	missense variant	-	NC_000014.9:g.92811554G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs553333516	p.Ala377Thr	missense variant	-	NC_000014.9:g.92811563G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs768382436	p.Arg378His	missense variant	-	NC_000014.9:g.92811567G>A	ExAC,gnomAD
rs751943504	p.Arg378Cys	missense variant	-	NC_000014.9:g.92811566C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu379Phe	missense variant	-	NC_000014.9:g.92811569C>T	NCI-TCGA
rs35865539	p.Asn380Ser	missense variant	-	NC_000014.9:g.92811573A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1201328565	p.Glu383Lys	missense variant	-	NC_000014.9:g.92811581G>A	TOPMed
rs1278971439	p.Met384Lys	missense variant	-	NC_000014.9:g.92811585T>A	gnomAD
rs771613439	p.Glu385Val	missense variant	-	NC_000014.9:g.92811588A>T	ExAC,TOPMed,gnomAD
rs771613439	p.Glu385Gly	missense variant	-	NC_000014.9:g.92811588A>G	ExAC,TOPMed,gnomAD
rs988707760	p.Glu385Ter	stop gained	-	NC_000014.9:g.92811587G>T	TOPMed
rs772660824	p.Arg386Cys	missense variant	-	NC_000014.9:g.92811590C>T	ExAC,TOPMed,gnomAD
rs200288795	p.Arg386His	missense variant	-	NC_000014.9:g.92811591G>A	ESP,ExAC,TOPMed,gnomAD
rs1322533209	p.Ala390Val	missense variant	-	NC_000014.9:g.92811603C>T	gnomAD
NCI-TCGA novel	p.Glu391Lys	missense variant	-	NC_000014.9:g.92811605G>A	NCI-TCGA
rs766924395	p.Ile393Val	missense variant	-	NC_000014.9:g.92811611A>G	ExAC,gnomAD
rs371151849	p.Ile393Thr	missense variant	-	NC_000014.9:g.92811612T>C	ESP,ExAC,TOPMed,gnomAD
rs759928094	p.Thr394Ala	missense variant	-	NC_000014.9:g.92811614A>G	ExAC,gnomAD
rs543664165	p.Leu395Val	missense variant	-	NC_000014.9:g.92811617C>G	ExAC,TOPMed,gnomAD
rs762876362	p.Glu397Lys	missense variant	-	NC_000014.9:g.92811623G>A	ExAC,TOPMed,gnomAD
rs922051426	p.Arg398Ile	missense variant	-	NC_000014.9:g.92811627G>T	TOPMed
rs1413225487	p.Lys399Arg	missense variant	-	NC_000014.9:g.92811630A>G	gnomAD
rs376039906	p.Tyr400His	missense variant	-	NC_000014.9:g.92811632T>C	ESP
NCI-TCGA novel	p.Tyr400Asp	missense variant	-	NC_000014.9:g.92811632T>G	NCI-TCGA
rs550880340	p.Ser401Ala	missense variant	-	NC_000014.9:g.92811635T>G	1000Genomes,TOPMed
rs1289208708	p.Glu403Gly	missense variant	-	NC_000014.9:g.92811642A>G	TOPMed
rs764230310	p.Val407Phe	missense variant	-	NC_000014.9:g.92811653G>T	ExAC,gnomAD
rs1334024082	p.Gln412His	missense variant	-	NC_000014.9:g.92811670G>T	gnomAD
rs780170792	p.Tyr417Cys	missense variant	-	NC_000014.9:g.92811684A>G	ExAC,TOPMed,gnomAD
rs1157925241	p.Leu419Phe	missense variant	-	NC_000014.9:g.92811691G>T	gnomAD
rs754831512	p.Ser423Phe	missense variant	-	NC_000014.9:g.92811702C>T	ExAC,gnomAD
COSM4886140	p.Glu427Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.92811713G>T	NCI-TCGA Cosmic
rs377092695	p.Asp430Glu	missense variant	-	NC_000014.9:g.92811724C>A	ESP,TOPMed,gnomAD
rs370188399	p.Tyr431His	missense variant	-	NC_000014.9:g.92811725T>C	ESP,ExAC,TOPMed,gnomAD
rs142379108	p.Tyr431Cys	missense variant	-	NC_000014.9:g.92811726A>G	ESP,ExAC,TOPMed,gnomAD
rs1439023376	p.Lys432Gln	missense variant	-	NC_000014.9:g.92811728A>C	gnomAD
rs771676445	p.Gln433Lys	missense variant	-	NC_000014.9:g.92811731C>A	ExAC,gnomAD
rs1401856715	p.Gln433Arg	missense variant	-	NC_000014.9:g.92811732A>G	TOPMed,gnomAD
rs777310850	p.Lys434Glu	missense variant	-	NC_000014.9:g.92811734A>G	ExAC
rs1284505584	p.Thr436Ala	missense variant	-	NC_000014.9:g.92811740A>G	TOPMed
rs746545770	p.Arg437Lys	missense variant	-	NC_000014.9:g.92811744G>A	ExAC,gnomAD
rs763258665	p.Lys444Thr	missense variant	-	NC_000014.9:g.92816261A>C	ExAC,TOPMed,gnomAD
rs768873660	p.Leu445Met	missense variant	-	NC_000014.9:g.92816263T>A	ExAC,gnomAD
rs774449055	p.Ile446Met	missense variant	-	NC_000014.9:g.92816268T>G	ExAC,TOPMed,gnomAD
COSM958902	p.Asn447Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92816270A>G	NCI-TCGA Cosmic
rs1287288717	p.Gly452Ala	missense variant	-	NC_000014.9:g.92816285G>C	TOPMed,gnomAD
rs1287288717	p.Gly452Val	missense variant	-	NC_000014.9:g.92816285G>T	TOPMed,gnomAD
rs773480047	p.Ser453Pro	missense variant	-	NC_000014.9:g.92816287T>C	ExAC,gnomAD
rs1387927846	p.Gly454Val	missense variant	-	NC_000014.9:g.92816291G>T	TOPMed
rs759520012	p.Glu456Gln	missense variant	-	NC_000014.9:g.92816296G>C	ExAC,gnomAD
rs1162348055	p.Asp459Gly	missense variant	-	NC_000014.9:g.92816306A>G	TOPMed
rs765123740	p.Ser460Arg	missense variant	-	NC_000014.9:g.92816310C>G	ExAC,gnomAD
rs752502062	p.Ser461Arg	missense variant	-	NC_000014.9:g.92816311A>C	ExAC,gnomAD
rs763747760	p.Thr462Ile	missense variant	-	NC_000014.9:g.92816315C>T	ExAC,gnomAD
rs758153492	p.Thr462Ala	missense variant	-	NC_000014.9:g.92816314A>G	ExAC,gnomAD
rs751178151	p.Ala463Ser	missense variant	-	NC_000014.9:g.92816317G>T	ExAC,gnomAD
rs61440581	p.Ser464Asn	missense variant	-	NC_000014.9:g.92816321G>A	ExAC,gnomAD
rs1321695318	p.Met466Thr	missense variant	-	NC_000014.9:g.92816327T>C	NCI-TCGA Cosmic
rs374187542	p.Met466Ile	missense variant	-	NC_000014.9:g.92816328G>C	ESP,TOPMed
rs745432334	p.Met466Val	missense variant	-	NC_000014.9:g.92816326A>G	ExAC,gnomAD
rs1321695318	p.Met466Thr	missense variant	-	NC_000014.9:g.92816327T>C	-
rs1422161836	p.Glu469Lys	missense variant	-	NC_000014.9:g.92816335G>A	gnomAD
NCI-TCGA novel	p.Glu469Ala	missense variant	-	NC_000014.9:g.92816336A>C	NCI-TCGA
rs780447151	p.Leu471Pro	missense variant	-	NC_000014.9:g.92816342T>C	NCI-TCGA,NCI-TCGA Cosmic
rs780447151	p.Leu471Pro	missense variant	-	NC_000014.9:g.92816342T>C	ExAC,gnomAD
rs34964124	p.Arg472Trp	missense variant	-	NC_000014.9:g.92816344C>T	NCI-TCGA
rs34964124	p.Arg472Trp	missense variant	-	NC_000014.9:g.92816344C>T	ESP,ExAC,TOPMed,gnomAD
rs768904772	p.Arg472Gln	missense variant	-	NC_000014.9:g.92816345G>A	ExAC,TOPMed,gnomAD
rs961101058	p.His473Arg	missense variant	-	NC_000014.9:g.92816348A>G	TOPMed,gnomAD
COSM4816625	p.Glu474Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.92816350G>T	NCI-TCGA Cosmic
rs774843932	p.Glu476Asp	missense variant	-	NC_000014.9:g.92816358G>C	ExAC,TOPMed,gnomAD
COSM70925	p.Glu476Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92816356G>C	NCI-TCGA Cosmic
rs748363873	p.Arg479Thr	missense variant	-	NC_000014.9:g.92816366G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu481Ter	stop gained	-	NC_000014.9:g.92816371G>T	NCI-TCGA
rs772469310	p.Ile482Thr	missense variant	-	NC_000014.9:g.92816375T>C	ExAC,gnomAD
rs1380436185	p.Gln483Arg	missense variant	-	NC_000014.9:g.92816378A>G	TOPMed,gnomAD
rs1027821918	p.Gln483Ter	stop gained	-	NC_000014.9:g.92816377C>T	gnomAD
rs773390037	p.Lys484Thr	missense variant	-	NC_000014.9:g.92816381A>C	ExAC,gnomAD
rs34139657	p.Met486Val	missense variant	-	NC_000014.9:g.92816386A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs34139657	p.Met486Val	missense variant	-	NC_000014.9:g.92816386A>G	UniProt,dbSNP
VAR_055860	p.Met486Val	missense variant	-	NC_000014.9:g.92816386A>G	UniProt
rs372309521	p.Gly487Val	missense variant	-	NC_000014.9:g.92816390G>T	ESP,ExAC,gnomAD
rs775306878	p.Ile489Leu	missense variant	-	NC_000014.9:g.92816395A>T	ExAC,gnomAD
rs1266671541	p.Ile489Met	missense variant	-	NC_000014.9:g.92816397A>G	gnomAD
rs1364158702	p.Gln491Arg	missense variant	-	NC_000014.9:g.92816402A>G	TOPMed
rs762744806	p.Leu492Phe	missense variant	-	NC_000014.9:g.92816404C>T	ExAC,gnomAD
rs762744806	p.Leu492Phe	missense variant	-	NC_000014.9:g.92816404C>T	NCI-TCGA,NCI-TCGA Cosmic
rs574595272	p.Glu495Lys	missense variant	-	NC_000014.9:g.92816413G>A	NCI-TCGA,NCI-TCGA Cosmic
rs574595272	p.Glu495Lys	missense variant	-	NC_000014.9:g.92816413G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs767198033	p.Gln497Arg	missense variant	-	NC_000014.9:g.92816420A>G	ExAC,gnomAD
rs768687848	p.Met499Val	missense variant	-	NC_000014.9:g.92819711A>G	ExAC,TOPMed,gnomAD
rs774102272	p.Ala501Pro	missense variant	-	NC_000014.9:g.92819717G>C	ExAC,gnomAD
NCI-TCGA novel	p.Gln502Lys	missense variant	-	NC_000014.9:g.92819720C>A	NCI-TCGA
rs761618350	p.Val504Leu	missense variant	-	NC_000014.9:g.92819726G>C	ExAC,gnomAD
rs750078264	p.Asn505Ser	missense variant	-	NC_000014.9:g.92819730A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala507GlnPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.92819733A>-	NCI-TCGA
rs765789948	p.Glu508Gly	missense variant	-	NC_000014.9:g.92819739A>G	ExAC,gnomAD
rs753434405	p.Ala510Val	missense variant	-	NC_000014.9:g.92819745C>T	ExAC,TOPMed,gnomAD
rs371275643	p.Leu517Met	missense variant	-	NC_000014.9:g.92819765C>A	ESP,TOPMed
rs376134456	p.His518Arg	missense variant	-	NC_000014.9:g.92819769A>G	ESP,ExAC,TOPMed,gnomAD
rs1309250443	p.His518Tyr	missense variant	-	NC_000014.9:g.92819768C>T	gnomAD
NCI-TCGA novel	p.Asp519Tyr	missense variant	-	NC_000014.9:g.92819771G>T	NCI-TCGA
rs530201893	p.Ile521Val	missense variant	-	NC_000014.9:g.92819777A>G	1000Genomes,ExAC,gnomAD
rs542309479	p.Ala522Thr	missense variant	-	NC_000014.9:g.92819780G>A	1000Genomes
rs758851472	p.Ala522Gly	missense variant	-	NC_000014.9:g.92819781C>G	ExAC,gnomAD
rs199898697	p.Lys525Gln	missense variant	-	NC_000014.9:g.92819789A>C	1000Genomes,ExAC,gnomAD
rs202127537	p.Ala526Thr	missense variant	-	NC_000014.9:g.92819792G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1399251474	p.Ser527Phe	missense variant	-	NC_000014.9:g.92819796C>T	TOPMed
rs746000642	p.Leu535Pro	missense variant	-	NC_000014.9:g.92819820T>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu536Asp	missense variant	-	NC_000014.9:g.92819824G>C	NCI-TCGA
rs774284212	p.Arg537Gln	missense variant	-	NC_000014.9:g.92819826G>A	ExAC,TOPMed,gnomAD
COSM5648198	p.Arg537Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.92819825C>T	NCI-TCGA Cosmic
rs767069091	p.Glu541Ala	missense variant	-	NC_000014.9:g.92824547A>C	ExAC,gnomAD
rs767069091	p.Glu541Gly	missense variant	-	NC_000014.9:g.92824547A>G	ExAC,gnomAD
rs776362976	p.His543Arg	missense variant	-	NC_000014.9:g.92824553A>G	ExAC,gnomAD
rs1282447965	p.Ile545Val	missense variant	-	NC_000014.9:g.92824558A>G	gnomAD
rs764836988	p.Ile545Thr	missense variant	-	NC_000014.9:g.92824559T>C	ExAC
rs147777021	p.Glu546Gly	missense variant	-	NC_000014.9:g.92824562A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs763532785	p.Glu547Lys	missense variant	-	NC_000014.9:g.92824564G>A	ExAC,TOPMed
rs1270138880	p.Asp548Val	missense variant	-	NC_000014.9:g.92824568A>T	TOPMed
rs1229070924	p.Asp548Asn	missense variant	-	NC_000014.9:g.92824567G>A	gnomAD
rs1326839839	p.Tyr550Cys	missense variant	-	NC_000014.9:g.92824574A>G	gnomAD
rs764740502	p.Arg551Gln	missense variant	-	NC_000014.9:g.92824577G>A	ExAC,gnomAD
COSM3499029	p.Arg551Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.92824576C>T	NCI-TCGA Cosmic
rs764740502	p.Arg551Gln	missense variant	-	NC_000014.9:g.92824577G>A	NCI-TCGA,NCI-TCGA Cosmic
rs751830866	p.Thr552Ser	missense variant	-	NC_000014.9:g.92824579A>T	ExAC,gnomAD
rs1184853472	p.Lys553Glu	missense variant	-	NC_000014.9:g.92824582A>G	gnomAD
rs377202944	p.Lys553Asn	missense variant	-	NC_000014.9:g.92824584G>T	ESP,gnomAD
rs767567675	p.Thr555Ile	missense variant	-	NC_000014.9:g.92824589C>T	ExAC,gnomAD
rs183909467	p.Leu556Phe	missense variant	-	NC_000014.9:g.92824593G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1258324902	p.Leu556Met	missense variant	-	NC_000014.9:g.92824591T>A	TOPMed,gnomAD
rs756384689	p.Ser558Arg	missense variant	-	NC_000014.9:g.92824599C>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg559Ile	missense variant	-	NC_000014.9:g.92824601G>T	NCI-TCGA
rs780083685	p.Lys561Arg	missense variant	-	NC_000014.9:g.92824607A>G	ExAC,gnomAD
rs749407535	p.Asp562Ala	missense variant	-	NC_000014.9:g.92824610A>C	ExAC,gnomAD
rs577229286	p.Arg563Gln	missense variant	-	NC_000014.9:g.92824613G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM5012816	p.Arg563Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.92824612C>T	NCI-TCGA Cosmic
rs746719989	p.Glu565Lys	missense variant	-	NC_000014.9:g.92824618G>A	ExAC,TOPMed,gnomAD
rs776361285	p.Glu566Ala	missense variant	-	NC_000014.9:g.92824622A>C	ExAC,gnomAD
rs770767639	p.Glu566Gln	missense variant	-	NC_000014.9:g.92824621G>C	ExAC,TOPMed,gnomAD
rs770767639	p.Glu566Lys	missense variant	-	NC_000014.9:g.92824621G>A	ExAC,TOPMed,gnomAD
COSM958905	p.Glu566Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.92824621G>T	NCI-TCGA Cosmic
rs1299146844	p.Glu566Asp	missense variant	-	NC_000014.9:g.92824623A>C	TOPMed
rs745505073	p.Gln568Lys	missense variant	-	NC_000014.9:g.92824627C>A	ExAC,gnomAD
rs1230016109	p.Leu570Val	missense variant	-	NC_000014.9:g.92824633C>G	gnomAD
rs1370956688	p.Gln573Arg	missense variant	-	NC_000014.9:g.92824643A>G	TOPMed
rs373947383	p.Thr575Ala	missense variant	-	NC_000014.9:g.92833125A>G	ESP,ExAC,TOPMed,gnomAD
rs1227049786	p.Thr578Asn	missense variant	-	NC_000014.9:g.92833135C>A	gnomAD
rs745699272	p.Leu579Ser	missense variant	-	NC_000014.9:g.92833138T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu579Val	missense variant	-	NC_000014.9:g.92833137T>G	NCI-TCGA
rs368464122	p.Ser580Arg	missense variant	-	NC_000014.9:g.92833140A>C	ESP,ExAC,TOPMed,gnomAD
rs748751783	p.Ser583Ile	missense variant	-	NC_000014.9:g.92833150G>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser583Cys	missense variant	-	NC_000014.9:g.92833149A>T	NCI-TCGA
rs975314471	p.Gln584His	missense variant	-	NC_000014.9:g.92833154G>T	TOPMed
rs1360245993	p.Gln584Arg	missense variant	-	NC_000014.9:g.92833153A>G	gnomAD
COSM1300909	p.Gln584Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92833152C>A	NCI-TCGA Cosmic
rs375552804	p.Arg590Gln	missense variant	-	NC_000014.9:g.92833171G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1248975964	p.Arg590Ter	stop gained	-	NC_000014.9:g.92833170C>T	gnomAD
rs1248975964	p.Arg590Ter	stop gained	-	NC_000014.9:g.92833170C>T	NCI-TCGA
rs375552804	p.Arg590Gln	missense variant	-	NC_000014.9:g.92833171G>A	ESP,ExAC,TOPMed,gnomAD
rs75743171	p.His592Arg	missense variant	-	NC_000014.9:g.92833177A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs200448653	p.Gln593Leu	missense variant	-	NC_000014.9:g.92833180A>T	1000Genomes,TOPMed
COSM3793970	p.Gln593Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92833179C>A	NCI-TCGA Cosmic
rs201106133	p.Thr595Ile	missense variant	-	NC_000014.9:g.92833186C>T	TOPMed
rs542220913	p.Thr595Ala	missense variant	-	NC_000014.9:g.92833185A>G	1000Genomes
NCI-TCGA novel	p.Glu596Gly	missense variant	-	NC_000014.9:g.92833189A>G	NCI-TCGA
rs1295643417	p.Thr597Ile	missense variant	-	NC_000014.9:g.92833192C>T	TOPMed
rs761046100	p.Thr597Ala	missense variant	-	NC_000014.9:g.92833191A>G	ExAC,gnomAD
rs754061164	p.Leu598Val	missense variant	-	NC_000014.9:g.92833194C>G	ExAC,gnomAD
rs189806779	p.Gln600Arg	missense variant	-	NC_000014.9:g.92833201A>G	1000Genomes,ExAC,gnomAD
rs189806779	p.Gln600Pro	missense variant	-	NC_000014.9:g.92833201A>C	1000Genomes,ExAC,gnomAD
rs757190774	p.Met604Ile	missense variant	-	NC_000014.9:g.92833214G>C	ExAC
rs781023627	p.Leu605Val	missense variant	-	NC_000014.9:g.92833215C>G	ExAC,TOPMed,gnomAD
rs1294823138	p.Ser607Arg	missense variant	-	NC_000014.9:g.92833221A>C	TOPMed,gnomAD
NCI-TCGA novel	p.Glu611Ter	stop gained	-	NC_000014.9:g.92833233G>T	NCI-TCGA
COSM958907	p.Lys612Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92833238G>T	NCI-TCGA Cosmic
rs1308633240	p.Leu615Arg	missense variant	-	NC_000014.9:g.92833246T>G	TOPMed
rs750194903	p.Val616Gly	missense variant	-	NC_000014.9:g.92833249T>G	ExAC,gnomAD
rs780060033	p.Gln618Glu	missense variant	-	NC_000014.9:g.92833254C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln618Ter	stop gained	-	NC_000014.9:g.92833254C>T	NCI-TCGA
rs1292463206	p.Glu620Lys	missense variant	-	NC_000014.9:g.92833260G>A	gnomAD
rs143154450	p.Arg621Cys	missense variant	-	NC_000014.9:g.92833263C>T	NCI-TCGA
rs143154450	p.Arg621Cys	missense variant	-	NC_000014.9:g.92833263C>T	ESP,ExAC,TOPMed,gnomAD
rs368512639	p.Arg621His	missense variant	-	NC_000014.9:g.92833264G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368512639	p.Arg621Leu	missense variant	-	NC_000014.9:g.92833264G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs773720304	p.Glu623Lys	missense variant	-	NC_000014.9:g.92833269G>A	ExAC,TOPMed,gnomAD
rs773720304	p.Glu623Lys	missense variant	-	NC_000014.9:g.92833269G>A	NCI-TCGA,NCI-TCGA Cosmic
rs760960210	p.Gln624Glu	missense variant	-	NC_000014.9:g.92833272C>G	ExAC,TOPMed,gnomAD
rs1456574436	p.Asn627Ser	missense variant	-	NC_000014.9:g.92833282A>G	gnomAD
rs777041385	p.Ala629Pro	missense variant	-	NC_000014.9:g.92833287G>C	ExAC,TOPMed,gnomAD
rs777041385	p.Ala629Thr	missense variant	-	NC_000014.9:g.92833287G>A	ExAC,TOPMed,gnomAD
rs777041385	p.Ala629Thr	missense variant	-	NC_000014.9:g.92833287G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1313009190	p.Ser632Arg	missense variant	-	NC_000014.9:g.92833296A>C	TOPMed
rs759785751	p.Ser633Cys	missense variant	-	NC_000014.9:g.92833299A>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser633Gly	missense variant	-	NC_000014.9:g.92833299A>G	NCI-TCGA
rs752784061	p.Ser634Asn	missense variant	-	NC_000014.9:g.92833303G>A	ExAC,TOPMed,gnomAD
rs1345012344	p.Ser637Pro	missense variant	-	NC_000014.9:g.92833311T>C	TOPMed
rs199767772	p.Ser638Pro	missense variant	-	NC_000014.9:g.92833314T>C	1000Genomes
rs1311369172	p.Ser638Leu	missense variant	-	NC_000014.9:g.92833315C>T	NCI-TCGA Cosmic
rs1311369172	p.Ser638Leu	missense variant	-	NC_000014.9:g.92833315C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ile639TyrPheSerTerUnk	frameshift	-	NC_000014.9:g.92833316_92833320GATTA>-	NCI-TCGA
rs374813643	p.Asn640Ser	missense variant	-	NC_000014.9:g.92833321A>G	ESP,ExAC,TOPMed,gnomAD
rs1246493557	p.Asn640Asp	missense variant	-	NC_000014.9:g.92833320A>G	gnomAD
rs138658557	p.Met641Ile	missense variant	-	NC_000014.9:g.92833325G>T	ESP,ExAC,TOPMed,gnomAD
rs750391519	p.Met641Thr	missense variant	-	NC_000014.9:g.92833324T>C	ExAC,gnomAD
rs1335944601	p.Met641Val	missense variant	-	NC_000014.9:g.92833323A>G	TOPMed,gnomAD
rs368756097	p.Gly643Arg	missense variant	-	NC_000014.9:g.92833329G>A	ESP,ExAC,TOPMed,gnomAD
rs1205854776	p.Ile644Val	missense variant	-	NC_000014.9:g.92833332A>G	gnomAD
rs1173606529	p.Asp645Asn	missense variant	-	NC_000014.9:g.92833335G>A	TOPMed
NCI-TCGA novel	p.Asp645AlaPheSerTerUnk	stop gained	-	NC_000014.9:g.92833335_92833336insCTTAAAGTTTTATTGGT	NCI-TCGA
rs182638115	p.Asn646Ser	missense variant	-	NC_000014.9:g.92833339A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs150295315	p.Gly647Arg	missense variant	-	NC_000014.9:g.92833341G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs150295315	p.Gly647Ser	missense variant	-	NC_000014.9:g.92833341G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1189857632	p.Glu648Gly	missense variant	-	NC_000014.9:g.92833345A>G	gnomAD
NCI-TCGA novel	p.Gly649Cys	missense variant	-	NC_000014.9:g.92833347G>T	NCI-TCGA
rs754738825	p.Thr650Ile	missense variant	-	NC_000014.9:g.92835562C>T	ExAC,gnomAD
rs142072754	p.Arg651His	missense variant	-	NC_000014.9:g.92835565G>A	ESP,ExAC,TOPMed,gnomAD
rs927673467	p.Arg651Cys	missense variant	-	NC_000014.9:g.92835564C>T	TOPMed
rs142072754	p.Arg651Pro	missense variant	-	NC_000014.9:g.92835565G>C	ESP,ExAC,TOPMed,gnomAD
rs1224641847	p.Asn654Ser	missense variant	-	NC_000014.9:g.92835574A>G	gnomAD
rs757725083	p.Val655Ile	missense variant	-	NC_000014.9:g.92835576G>A	ExAC,gnomAD
rs746185458	p.Asp661Glu	missense variant	-	NC_000014.9:g.92835596C>G	ExAC,gnomAD
rs1341767119	p.Thr662Ala	missense variant	-	NC_000014.9:g.92835597A>G	gnomAD
rs1254186509	p.Thr664Ser	missense variant	-	NC_000014.9:g.92835604C>G	gnomAD
rs369792091	p.Asn665Ser	missense variant	-	NC_000014.9:g.92835607A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138230836	p.Asn665Lys	missense variant	-	NC_000014.9:g.92835608T>G	ESP,TOPMed
COSM958908	p.Leu666Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92835609C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Met669Val	missense variant	-	NC_000014.9:g.92835618A>G	NCI-TCGA
rs769038230	p.Gly671Arg	missense variant	-	NC_000014.9:g.92835624G>A	NCI-TCGA,NCI-TCGA Cosmic
rs769038230	p.Gly671Arg	missense variant	-	NC_000014.9:g.92835624G>A	ExAC,TOPMed,gnomAD
rs541378166	p.Arg674Leu	missense variant	-	NC_000014.9:g.92835634G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs774532511	p.Arg674Cys	missense variant	-	NC_000014.9:g.92835633C>T	ExAC,gnomAD
rs541378166	p.Arg674His	missense variant	-	NC_000014.9:g.92835634G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs774532511	p.Arg674Cys	missense variant	-	NC_000014.9:g.92835633C>T	NCI-TCGA,NCI-TCGA Cosmic
COSM699062	p.Ser678Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92835646G>T	NCI-TCGA Cosmic
rs1373720275	p.Ser679Leu	missense variant	-	NC_000014.9:g.92835649C>T	TOPMed
rs373869475	p.Ile680Val	missense variant	-	NC_000014.9:g.92835651A>G	NCI-TCGA
rs373869475	p.Ile680Val	missense variant	-	NC_000014.9:g.92835651A>G	ESP,ExAC,gnomAD
rs1427482774	p.Asp681Asn	missense variant	-	NC_000014.9:g.92835654G>A	TOPMed,gnomAD
rs1354716414	p.Gln682His	missense variant	-	NC_000014.9:g.92835659G>C	TOPMed,gnomAD
rs759581860	p.Gln682Arg	missense variant	-	NC_000014.9:g.92835658A>G	ExAC,TOPMed,gnomAD
rs1354716414	p.Gln682His	missense variant	-	NC_000014.9:g.92835659G>T	TOPMed,gnomAD
rs769812805	p.Arg686Leu	missense variant	-	NC_000014.9:g.92837391G>T	ExAC,gnomAD
rs769812805	p.Arg686His	missense variant	-	NC_000014.9:g.92837391G>A	ExAC,gnomAD
rs372954517	p.Arg686Ser	missense variant	-	NC_000014.9:g.92837390C>A	ESP,TOPMed
COSM1371631	p.Arg686Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92837390C>T	NCI-TCGA Cosmic
rs141819334	p.Gly688Glu	missense variant	-	NC_000014.9:g.92837397G>A	ESP,ExAC,TOPMed,gnomAD
rs1363001397	p.Ile689Met	missense variant	-	NC_000014.9:g.92837401T>G	gnomAD
NCI-TCGA novel	p.Leu691Pro	missense variant	-	NC_000014.9:g.92837406T>C	NCI-TCGA
rs762762631	p.Arg692Gln	missense variant	-	NC_000014.9:g.92837409G>A	ExAC,TOPMed,gnomAD
rs1310378358	p.Arg692Ter	stop gained	-	NC_000014.9:g.92837408C>T	gnomAD
rs1214052463	p.Tyr694His	missense variant	-	NC_000014.9:g.92837414T>C	gnomAD
rs1403123029	p.Pro695Ser	missense variant	-	NC_000014.9:g.92837417C>T	gnomAD
rs150694057	p.Ile696Leu	missense variant	-	NC_000014.9:g.92837420A>T	ESP,ExAC,gnomAD
rs751218202	p.Ile696Lys	missense variant	-	NC_000014.9:g.92837421T>A	ExAC,TOPMed,gnomAD
rs1242157285	p.Ala697Val	missense variant	-	NC_000014.9:g.92837424C>T	TOPMed,gnomAD
rs749987297	p.Arg698Gln	missense variant	-	NC_000014.9:g.92837427G>A	ExAC,gnomAD
rs766925640	p.Arg698Ter	stop gained	-	NC_000014.9:g.92837426C>T	ExAC,gnomAD
rs1166032369	p.Ile702Val	missense variant	-	NC_000014.9:g.92837438A>G	gnomAD
rs780631977	p.Ile703Met	missense variant	-	NC_000014.9:g.92837443A>G	ExAC,TOPMed,gnomAD
rs1456109284	p.Ile703Thr	missense variant	-	NC_000014.9:g.92837442T>C	gnomAD
rs754197576	p.Met705Val	missense variant	-	NC_000014.9:g.92837447A>G	ExAC,gnomAD
NCI-TCGA novel	p.Met705IlePheSerTerUnkUnk	frameshift	-	NC_000014.9:g.92837439_92837440insTA	NCI-TCGA
rs747007821	p.His709Gln	missense variant	-	NC_000014.9:g.92839377C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ile714Val	missense variant	-	NC_000014.9:g.92839390A>G	NCI-TCGA
rs757362596	p.Val715Ile	missense variant	-	NC_000014.9:g.92839393G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro721Leu	missense variant	-	NC_000014.9:g.92839412C>T	NCI-TCGA
rs1482279506	p.His725Tyr	missense variant	-	NC_000014.9:g.92839423C>T	gnomAD
rs140039482	p.Asp726Tyr	missense variant	-	NC_000014.9:g.92839426G>T	ESP,ExAC,TOPMed,gnomAD
rs140039482	p.Asp726Asn	missense variant	-	NC_000014.9:g.92839426G>A	ESP,ExAC,TOPMed,gnomAD
rs760307690	p.Tyr729Asn	missense variant	-	NC_000014.9:g.92839435T>A	ExAC,gnomAD
rs765895691	p.Ter732Leu	stop lost	-	NC_000014.9:g.92839445G>T	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0040136	Thyroid Neoplasm	disease	BEFREE
C0238463	Papillary thyroid carcinoma	disease	ORPHANET
C0549473	Thyroid carcinoma	disease	BEFREE
C1319315	Adenocarcinoma of large intestine	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0017137	Rab GTPase binding	IDA
GO:0042803	protein homodimerization activity	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000301	retrograde transport, vesicle recycling within Golgi	IBA
GO:0007030	Golgi organization	IMP
GO:0007030	Golgi organization	IBA
GO:0048193	Golgi vesicle transport	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000139	Golgi membrane	IBA
GO:0000139	Golgi membrane	TAS
GO:0005794	Golgi apparatus	IDA
GO:0005801	cis-Golgi network	IDA
GO:0016020	membrane	HDA
GO:0016021	integral component of membrane	IDA
GO:0030133	transport vesicle	TAS
GO:0031985	Golgi cisterna	IDA
GO:0031985	Golgi cisterna	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-199991	Membrane Trafficking	TAS
R-HSA-5653656	Vesicle-mediated transport	TAS
R-HSA-6811438	Intra-Golgi traffic	TAS
R-HSA-6811442	Intra-Golgi and retrograde Golgi-to-ER traffic	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C051246	1-methylanthracene	[1-methylanthracene co-treated with fluoranthene] results in increased expression of GOLGA5 mRNA	28329830
D000082	Acetaminophen	Acetaminophen affects the expression of GOLGA5 mRNA	17562736
C016601	afimoxifene	afimoxifene results in decreased expression of GOLGA5 mRNA	16514628
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of GOLGA5 gene	27153756
D000395	Air Pollutants, Occupational	Air Pollutants, Occupational results in decreased expression of GOLGA5 mRNA	23195993
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of GOLGA5 mRNA	22228805
C006780	bisphenol A	bisphenol A affects the expression of GOLGA5 mRNA	21786754
C006780	bisphenol A	bisphenol A results in increased expression of GOLGA5 mRNA	25181051
D020111	Chlorodiphenyl (54% Chlorine)	Chlorodiphenyl (54% Chlorine) results in decreased expression of GOLGA5 mRNA	23650126
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of GOLGA5 mRNA	19549813
D016572	Cyclosporine	Cyclosporine results in increased expression of GOLGA5 mRNA	20106945; 25562108; 27989131;
C000944	dicrotophos	dicrotophos results in decreased expression of GOLGA5 mRNA	28302478
D004147	Dioxins	Dioxins affects the expression of GOLGA5 mRNA	20463971
D004958	Estradiol	Estradiol results in increased expression of GOLGA5 mRNA	16514628
D000431	Ethanol	Ethanol affects the splicing of GOLGA5 mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of GOLGA5 mRNA	23129252
C007738	fluoranthene	[1-methylanthracene co-treated with fluoranthene] results in increased expression of GOLGA5 mRNA	28329830
D005485	Flutamide	Flutamide results in increased expression of GOLGA5 mRNA	24136188
D000077267	Fulvestrant	Fulvestrant results in decreased expression of GOLGA5 mRNA	16514628
C410337	K 7174	K 7174 results in increased expression of GOLGA5 mRNA	24086573
D019344	Lactic Acid	Lactic Acid results in decreased expression of GOLGA5 mRNA	30851411
D008701	Methapyrilene	Methapyrilene results in decreased expression of GOLGA5 mRNA	30467583
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of GOLGA5 mRNA	23103053
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of GOLGA5 mRNA	25620056
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of GOLGA5 mRNA	25620056
D009532	Nickel	Nickel results in decreased expression of GOLGA5 mRNA	23195993
D011374	Progesterone	Progesterone results in increased expression of GOLGA5 mRNA	23012394; 23018184;
C045950	propiconazole	propiconazole results in increased expression of GOLGA5 mRNA	21278054
D020849	Raloxifene Hydrochloride	Raloxifene Hydrochloride results in decreased expression of GOLGA5 mRNA	16514628
C513635	S-2-pentyl-4-pentynoic hydroxamic acid	S-2-pentyl-4-pentynoic hydroxamic acid results in increased expression of GOLGA5 mRNA	21427059
D018038	Sodium Selenite	Sodium Selenite results in increased expression of GOLGA5 mRNA	18175754
D012999	Soman	Soman results in decreased expression of GOLGA5 mRNA	19281266
D000077210	Sunitinib	Sunitinib results in increased expression of GOLGA5 mRNA	31533062
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of GOLGA5 mRNA	21570461
D019284	Thapsigargin	Thapsigargin results in increased expression of GOLGA5 mRNA	22378314
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in increased expression of GOLGA5 mRNA	26179874
D014414	Tungsten	Tungsten results in decreased expression of GOLGA5 mRNA	30912803
D014415	Tunicamycin	Tunicamycin results in increased expression of GOLGA5 mRNA	22378314
D014635	Valproic Acid	Valproic Acid affects the expression of GOLGA5 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of GOLGA5 mRNA	23179753
D014635	Valproic Acid	Valproic Acid results in decreased methylation of GOLGA5 gene	29154799
D014635	Valproic Acid	Valproic Acid results in increased expression of GOLGA5 mRNA	21427059
C025643	vinclozolin	vinclozolin results in decreased expression of GOLGA5 mRNA	23034163

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0007	Acetylation
KW-0025	Alternative splicing
KW-0160	Chromosomal rearrangement
KW-0175	Coiled coil
KW-0333	Golgi apparatus
KW-0472	Membrane
KW-0488	Methylation
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR019177	Golgin_subfamily_A_member_5

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF09787	Golgin_A5

Gene: GOLGA5

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