CleftGeneDB-Search

Gene: SIX4

Basic information

Tag	Content
Uniprot ID	Q9UIU6; Q4QQH5; Q4V764;
Entrez ID	51804
Genbank protein ID	AAH98282.1; AAI01935.1; EAW80786.1; AAH99722.1; AAH98135.1; BAA86223.1;
Genbank nucleotide ID	NM_017420.4
Ensembl protein ID	ENSP00000216513
Ensembl nucleotide ID	ENSG00000100625
Gene name	Homeobox protein SIX4
Gene symbol	SIX4
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Transcriptional regulator which can act as both a transcriptional repressor and activator by binding a DNA sequence on these target genes and is involved in processes like cell differentiation, cell migration and cell survival. Transactivates gene expression by binding a 5'-[CAT]A[CT][CT][CTG]GA[GAT]-3' motif present in the Trex site and a 5'-TCA[AG][AG]TTNC-3' motif present in the MEF3 site of the muscle-specific genes enhancer. Acts cooperatively with EYA proteins to transactivate their target genes through interaction and nuclear translocation of EYA protein. Acts synergistically with SIX1 to regulate target genes involved in formation of various organs, including muscle, kidney, gonad, ganglia, olfactory epithelium and cranial skeleton. Plays a role in several important steps of muscle development. Controls the genesis of hypaxial myogenic progenitors in the dermomyotome by transactivating PAX3 and the delamination and migration of the hypaxial precursors from the ventral lip to the limb buds through the transactivation of PAX3, MET and LBX1. Controls myoblast determination by transactivating MYF5, MYOD1 and MYF6. Controls somitic differentiation in myocyte through MYOG transactivation. Plays a role in synaptogenesis and sarcomere organization by participating in myofiber specialization during embryogenesis by activating fast muscle program in the primary myotome resulting in an up-regulation of fast muscle genes, including ATP2A1, MYL1 and TNNT3. Simultaneously, is also able to activate inhibitors of slow muscle genes, such as SOX6, HRASLS, and HDAC4, thereby restricting the activation of the slow muscle genes. During muscle regeneration, negatively regulates differentiation of muscle satellite cells through down-regulation of MYOG expression. During kidney development regulates the early stages of metanephros development and ureteric bud formation through regulation of GDNF, SALL1, PAX8 and PAX2 expression. Plays a role in gonad development by regulating both testis determination and size determination. In gonadal sex determination, transactivates ZFPM2 by binding a MEF3 consensus sequence, resulting in SRY up-regulation. In gonadal size determination, transactivates NR5A1 by binding a MEF3 consensus sequence resulting in gonadal precursor cell formation regulation. During olfactory development mediates the specification and patterning of olfactory placode through fibroblast growth factor and BMP4 signaling pathways and also regulates epithelial cell proliferation during placode formation. Promotes survival of sensory neurons during early trigeminal gangliogenesis. In the developing dorsal root ganglia, up-regulates SLC12A2 transcription. Regulates early thymus/parathyroid organogenesis through regulation of GCM2 and FOXN1 expression. Forms gustatory papillae during development of the tongue. Also plays a role during embryonic cranial skeleton morphogenesis.
Sequence	MSSSSPTGQI ASAADIKQEN GMESASEGQE AHREVAGGAA VGLSPPAPAP FPLEPGDAAT 60 AAARVSGEEG AVAAAAAGAA ADQVQLHSEL LGRHHHAAAA AAQTPLAFSP DHVACVCEAL 120 QQGGNLDRLA RFLWSLPQSD LLRGNESLLK ARALVAFHQG IYPELYSILE SHSFESANHP 180 LLQQLWYKAR YTEAERARGR PLGAVDKYRL RRKFPLPRTI WDGEETVYCF KEKSRNALKE 240 LYKQNRYPSP AEKRHLAKIT GLSLTQVSNW FKNRRQRDRN PSETQSKSES DGNPSTEDES 300 SKGHEDLSPH PLSSSSDGIT NLSLSSHMEP VYMQQIGNAK ISLSSSGVLL NGSLVPASTS 360 PVFLNGNSFI QGPSGVILNG LNVGNTQAVA LNPPKMSSNI VSNGISMTDI LGSTSQDVKE 420 FKVLQSSANS ATTTSYSPSV PVSFPGLIPS TEVKREGIQT VASQDGGSVV TFTTPVQINQ 480 YGIVQIPNSG ANSQFLNGSI GFSPLQLPPV SVAASQGNIS VSSSTSDGST FTSESTTVQQ 540 GKVFLSSLAP SAVVYTVPNT GQTIGSVKQE GLERSLVFSQ LMPVNQNAQV NANLSSENIS 600 GSGLHPLASS LVNVSPTHNF SLSPSTLLNP TELNRDIADS QPMSAPVASK STVTSVSNTN 660 YATLQNCSLI TGQDLLSVPM TQAALGEIVP TAEDQVGHPS PAVHQDFVQE HRLVLQSVAN 720 MKENFLSNSE SKATSSLMML DSKSKYVLDG MVDTVCEDLE TDKKELAKLQ TVQLDEDMQD 780 L 781

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	SIX4	490720	F6XRS2		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	SIX4	102173941	A0A452EBD2		Capra hircus	Prediction	More>>
1:1 ortholog	SIX4	51804	Q9UIU6		Homo sapiens	Prediction	More>>
1:1 ortholog	Six4	20474	Q61321	CPO	Mus musculus	Publication	More>>
1:1 ortholog	SIX4	452953	K7A7J5		Pan troglodytes	Prediction	More>>
1:1 ortholog	SIX4		F1SRW3		Sus scrofa	Prediction	More>>
1:1 ortholog	Six4	299138	D3ZAJ7		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
NCI-TCGA novel	p.Met1Unk	frameshift	-	NC_000014.9:g.60724074T>-	NCI-TCGA
NCI-TCGA novel	p.Ser2Cys	missense variant	-	NC_000014.9:g.60724070G>C	NCI-TCGA
NCI-TCGA novel	p.Ser3Cys	missense variant	-	NC_000014.9:g.60724067G>C	NCI-TCGA
rs1403371103	p.Ser4Phe	missense variant	-	NC_000014.9:g.60724064G>A	gnomAD
rs766347851	p.Ser4Pro	missense variant	-	NC_000014.9:g.60724065A>G	ExAC,gnomAD
rs763116949	p.Ser5Phe	missense variant	-	NC_000014.9:g.60724061G>A	ExAC,TOPMed,gnomAD
rs773554042	p.Pro6Leu	missense variant	-	NC_000014.9:g.60724058G>A	ExAC,TOPMed,gnomAD
rs1441666322	p.Gly8Arg	missense variant	-	NC_000014.9:g.60724053C>T	gnomAD
rs1231210646	p.Ala11Ser	missense variant	-	NC_000014.9:g.60724044C>A	gnomAD
COSM956754	p.Ser12LysPheSerTerUnkUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.60724040_60724041insT	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala13Val	missense variant	-	NC_000014.9:g.60724037G>A	NCI-TCGA
rs1442875808	p.Ala14Glu	missense variant	-	NC_000014.9:g.60724034G>T	gnomAD
NCI-TCGA novel	p.Ala14Thr	missense variant	-	NC_000014.9:g.60724035C>T	NCI-TCGA
rs1208552609	p.Ile16Val	missense variant	-	NC_000014.9:g.60724029T>C	gnomAD
rs139989371	p.Ile16Thr	missense variant	-	NC_000014.9:g.60724028A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile16Met	missense variant	-	NC_000014.9:g.60724027G>C	NCI-TCGA
rs778647376	p.Glu19Asp	missense variant	-	NC_000014.9:g.60724018C>G	ExAC,TOPMed,gnomAD
rs778647376	p.Glu19Asp	missense variant	-	NC_000014.9:g.60724018C>A	ExAC,TOPMed,gnomAD
COSM956753	p.Glu19Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.60724020C>A	NCI-TCGA Cosmic
COSM416647	p.Glu19Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60724020C>G	NCI-TCGA Cosmic
rs1370565083	p.Gly21Glu	missense variant	-	NC_000014.9:g.60724013C>T	gnomAD
COSM3496674	p.Glu23Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60724008C>T	NCI-TCGA Cosmic
VAR_036441	p.Glu23Gln	Missense	-	-	UniProt
rs1442119471	p.Ser24Arg	missense variant	-	NC_000014.9:g.60724003G>T	gnomAD
rs770304830	p.Ser24Thr	missense variant	-	NC_000014.9:g.60724004C>G	ExAC,TOPMed,gnomAD
rs1449837653	p.Gly28Arg	missense variant	-	NC_000014.9:g.60723993C>T	TOPMed
rs777517525	p.Gly28Glu	missense variant	-	NC_000014.9:g.60723992C>T	ExAC,TOPMed,gnomAD
rs1375185620	p.Glu30Asp	missense variant	-	NC_000014.9:g.60723985C>A	gnomAD
rs1248352358	p.His32Arg	missense variant	-	NC_000014.9:g.60723980T>C	TOPMed,gnomAD
rs1478647758	p.His32Gln	missense variant	-	NC_000014.9:g.60723979G>C	TOPMed
rs370632624	p.Arg33Gln	missense variant	-	NC_000014.9:g.60723977C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370632624	p.Arg33Pro	missense variant	-	NC_000014.9:g.60723977C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780934669	p.Ala36Val	missense variant	-	NC_000014.9:g.60723968G>A	ExAC,gnomAD
rs572307917	p.Gly37Arg	missense variant	-	NC_000014.9:g.60723966C>G	1000Genomes,ExAC,gnomAD
rs751733616	p.Gly38Val	missense variant	-	NC_000014.9:g.60723962C>A	ExAC,TOPMed,gnomAD
rs1473164781	p.Ala39Thr	missense variant	-	NC_000014.9:g.60723960C>T	gnomAD
rs1485247127	p.Ala40Val	missense variant	-	NC_000014.9:g.60723956G>A	gnomAD
rs1485247127	p.Ala40Gly	missense variant	-	NC_000014.9:g.60723956G>C	gnomAD
rs1185688453	p.Ala40Thr	missense variant	-	NC_000014.9:g.60723957C>T	gnomAD
rs1263582542	p.Val41Leu	missense variant	-	NC_000014.9:g.60723954C>G	TOPMed,gnomAD
rs981959375	p.Val41Gly	missense variant	-	NC_000014.9:g.60723953A>C	gnomAD
rs981959375	p.Val41Ala	missense variant	-	NC_000014.9:g.60723953A>G	gnomAD
rs1263582542	p.Val41Ile	missense variant	-	NC_000014.9:g.60723954C>T	TOPMed,gnomAD
rs1283109377	p.Leu43Gln	missense variant	-	NC_000014.9:g.60723947A>T	gnomAD
rs368086407	p.Ser44Arg	missense variant	-	NC_000014.9:g.60723945T>G	ESP,ExAC,TOPMed,gnomAD
rs1357823870	p.Pro45Thr	missense variant	-	NC_000014.9:g.60723942G>T	gnomAD
rs1004539507	p.Pro46Leu	missense variant	-	NC_000014.9:g.60723938G>A	TOPMed,gnomAD
rs1277953239	p.Pro46Ser	missense variant	-	NC_000014.9:g.60723939G>A	TOPMed
COSM5105901	p.Pro46ArgPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.60723938G>-	NCI-TCGA Cosmic
rs1299123346	p.Pro48Leu	missense variant	-	NC_000014.9:g.60723932G>A	TOPMed,gnomAD
rs375118853	p.Pro48Thr	missense variant	-	NC_000014.9:g.60723933G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777326618	p.Pro50Ser	missense variant	-	NC_000014.9:g.60723927G>A	ExAC,gnomAD
rs1317896382	p.Pro52Leu	missense variant	-	NC_000014.9:g.60723920G>A	gnomAD
rs764503585	p.Pro52Thr	missense variant	-	NC_000014.9:g.60723921G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro52Ser	missense variant	-	NC_000014.9:g.60723921G>A	NCI-TCGA
rs1284785963	p.Pro55Gln	missense variant	-	NC_000014.9:g.60723911G>T	TOPMed
rs761151712	p.Pro55Ser	missense variant	-	NC_000014.9:g.60723912G>A	ExAC,gnomAD
rs1489227511	p.Gly56Arg	missense variant	-	NC_000014.9:g.60723909C>G	TOPMed
rs748952034	p.Asp57Glu	missense variant	-	NC_000014.9:g.60723904G>T	ExAC,gnomAD
rs1162746915	p.Asp57Asn	missense variant	-	NC_000014.9:g.60723906C>T	gnomAD
rs1370414407	p.Ala61Thr	missense variant	-	NC_000014.9:g.60723894C>T	TOPMed,gnomAD
rs1188115597	p.Ala62Ser	missense variant	-	NC_000014.9:g.60723891C>A	gnomAD
rs544876285	p.Val65Met	missense variant	-	NC_000014.9:g.60723882C>T	1000Genomes
rs748059941	p.Val65Gly	missense variant	-	NC_000014.9:g.60723881A>C	ExAC,TOPMed,gnomAD
rs754730355	p.Glu68Val	missense variant	-	NC_000014.9:g.60723872T>A	ExAC,TOPMed,gnomAD
rs754730355	p.Glu68Gly	missense variant	-	NC_000014.9:g.60723872T>C	ExAC,TOPMed,gnomAD
rs1270675393	p.Gly70Ala	missense variant	-	NC_000014.9:g.60723866C>G	gnomAD
rs900259728	p.Val72Glu	missense variant	-	NC_000014.9:g.60723860A>T	TOPMed,gnomAD
rs779768619	p.Ala75Val	missense variant	-	NC_000014.9:g.60723851G>A	ExAC,gnomAD
rs1376406359	p.Ala76Val	missense variant	-	NC_000014.9:g.60723848G>A	TOPMed
rs1288556437	p.Ala79Thr	missense variant	-	NC_000014.9:g.60723840C>T	gnomAD
rs1396815418	p.Ala80Glu	missense variant	-	NC_000014.9:g.60723836G>T	gnomAD
rs1157777787	p.Ala80Thr	missense variant	-	NC_000014.9:g.60723837C>T	gnomAD
rs1460979245	p.Ala81Val	missense variant	-	NC_000014.9:g.60723833G>A	gnomAD
rs1172412943	p.Asp82Glu	missense variant	-	NC_000014.9:g.60723829A>C	gnomAD
rs1418479919	p.Val84Ile	missense variant	-	NC_000014.9:g.60723825C>T	gnomAD
rs556072917	p.His87Arg	missense variant	-	NC_000014.9:g.60723815T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs556072917	p.His87Pro	missense variant	-	NC_000014.9:g.60723815T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1252461904	p.Ser88Leu	missense variant	-	NC_000014.9:g.60723812G>A	gnomAD
rs1485846638	p.Leu91Met	missense variant	-	NC_000014.9:g.60723804G>T	TOPMed
rs1207211703	p.Leu91Pro	missense variant	-	NC_000014.9:g.60723803A>G	gnomAD
rs764700040	p.Arg93Ser	missense variant	-	NC_000014.9:g.60723796C>A	ExAC,TOPMed,gnomAD
rs1042312414	p.Arg93Trp	missense variant	-	NC_000014.9:g.60723798T>A	TOPMed
rs1373546137	p.Ala97Val	missense variant	-	NC_000014.9:g.60723785G>A	gnomAD
rs573829440	p.Ala97Thr	missense variant	-	NC_000014.9:g.60723786C>T	1000Genomes,gnomAD
rs573829440	p.Ala97Pro	missense variant	-	NC_000014.9:g.60723786C>G	1000Genomes,gnomAD
rs1440319734	p.Ala98Val	missense variant	-	NC_000014.9:g.60723782G>A	gnomAD
rs1460357832	p.Ala100Val	missense variant	-	NC_000014.9:g.60723776G>A	gnomAD
rs1299847736	p.Ala100Thr	missense variant	-	NC_000014.9:g.60723777C>T	gnomAD
rs553541468	p.Ala102Glu	missense variant	-	NC_000014.9:g.60723770G>T	1000Genomes,TOPMed,gnomAD
rs1176436500	p.Ala102Thr	missense variant	-	NC_000014.9:g.60723771C>T	gnomAD
rs775911648	p.Gln103His	missense variant	-	NC_000014.9:g.60723766C>A	ExAC,TOPMed,gnomAD
rs920961519	p.Pro105Leu	missense variant	-	NC_000014.9:g.60723761G>A	TOPMed,gnomAD
rs928036389	p.Pro105Ser	missense variant	-	NC_000014.9:g.60723762G>A	TOPMed,gnomAD
rs920961519	p.Pro105Arg	missense variant	-	NC_000014.9:g.60723761G>C	TOPMed,gnomAD
rs928036389	p.Pro105Thr	missense variant	-	NC_000014.9:g.60723762G>T	TOPMed,gnomAD
rs1179490436	p.Leu106Pro	missense variant	-	NC_000014.9:g.60723758A>G	gnomAD
rs1348324689	p.Ala107Val	missense variant	-	NC_000014.9:g.60723755G>A	TOPMed
rs1251237661	p.Pro110Leu	missense variant	-	NC_000014.9:g.60723746G>A	gnomAD
rs1350470296	p.Val116Leu	missense variant	-	NC_000014.9:g.60723729C>A	TOPMed,gnomAD
rs1350470296	p.Val116Leu	missense variant	-	NC_000014.9:g.60723729C>G	TOPMed,gnomAD
rs1350470296	p.Val116Met	missense variant	-	NC_000014.9:g.60723729C>T	TOPMed,gnomAD
rs1210344312	p.Glu118Lys	missense variant	-	NC_000014.9:g.60723723C>T	gnomAD
rs1463751675	p.Ala119Thr	missense variant	-	NC_000014.9:g.60723720C>T	gnomAD
rs769249140	p.Gln122Leu	missense variant	-	NC_000014.9:g.60723710T>A	ExAC,TOPMed,gnomAD
rs747691579	p.Gly123Arg	missense variant	-	NC_000014.9:g.60723708C>G	ExAC,gnomAD
rs1309159764	p.Gly123Glu	missense variant	-	NC_000014.9:g.60723707C>T	TOPMed,gnomAD
rs1210952390	p.Gly124Asp	missense variant	-	NC_000014.9:g.60723704C>T	TOPMed,gnomAD
COSM1370371	p.Gly124AlaPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.60723704C>-	NCI-TCGA Cosmic
rs1303346846	p.Asn125His	missense variant	-	NC_000014.9:g.60723702T>G	TOPMed,gnomAD
rs1303346846	p.Asn125Tyr	missense variant	-	NC_000014.9:g.60723702T>A	TOPMed,gnomAD
rs776486708	p.Arg128Cys	missense variant	-	NC_000014.9:g.60723693G>A	ExAC,gnomAD
rs571233349	p.Arg128Leu	missense variant	-	NC_000014.9:g.60723692C>A	1000Genomes,gnomAD
rs551373303	p.Arg131Trp	missense variant	-	NC_000014.9:g.60723684G>A	1000Genomes,TOPMed,gnomAD
rs551373303	p.Arg131Gly	missense variant	-	NC_000014.9:g.60723684G>C	1000Genomes,TOPMed,gnomAD
rs961566563	p.Trp134Ser	missense variant	-	NC_000014.9:g.60723674C>G	TOPMed
rs746983349	p.Ser135Ala	missense variant	-	NC_000014.9:g.60723672A>C	ExAC,TOPMed,gnomAD
rs779864159	p.Ser135Phe	missense variant	-	NC_000014.9:g.60723671G>A	ExAC,gnomAD
rs1486875481	p.Pro137Ser	missense variant	-	NC_000014.9:g.60723666G>A	gnomAD
rs1255789544	p.Ser139Gly	missense variant	-	NC_000014.9:g.60723660T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Ser139Asn	missense variant	-	NC_000014.9:g.60723659C>T	NCI-TCGA
rs758171916	p.Leu141Val	missense variant	-	NC_000014.9:g.60723654G>C	ExAC,gnomAD
rs1262710954	p.Gly144Val	missense variant	-	NC_000014.9:g.60723644C>A	gnomAD
rs746053731	p.Asn145Ser	missense variant	-	NC_000014.9:g.60723641T>C	ExAC,gnomAD
rs1316390095	p.Glu146Gln	missense variant	-	NC_000014.9:g.60723639C>G	gnomAD
COSM4847717	p.Glu146Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60723637C>G	NCI-TCGA Cosmic
rs1368283775	p.Ala151Ser	missense variant	-	NC_000014.9:g.60723624C>A	TOPMed
rs753978471	p.Arg152Leu	missense variant	-	NC_000014.9:g.60723620C>A	ExAC,gnomAD
rs753978471	p.Arg152Gln	missense variant	-	NC_000014.9:g.60723620C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala153Pro	missense variant	-	NC_000014.9:g.60723618C>G	NCI-TCGA
rs756685864	p.Leu154Phe	missense variant	-	NC_000014.9:g.60723615G>A	ExAC,gnomAD
rs1166313514	p.Ala156Val	missense variant	-	NC_000014.9:g.60723608G>A	gnomAD
rs759844012	p.Pro163Ala	missense variant	-	NC_000014.9:g.60723588G>C	ExAC,gnomAD
rs1485604350	p.Leu165Phe	missense variant	-	NC_000014.9:g.60723582G>A	gnomAD
COSM3987705	p.Ile168Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60723572A>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu169Ile	missense variant	-	NC_000014.9:g.60723570G>T	NCI-TCGA
NCI-TCGA novel	p.Glu170Asp	missense variant	-	NC_000014.9:g.60723565C>G	NCI-TCGA
rs1292581615	p.Glu175Gly	missense variant	-	NC_000014.9:g.60723551T>C	gnomAD
rs776111621	p.Glu175Lys	missense variant	-	NC_000014.9:g.60723552C>T	ExAC,gnomAD
rs768191954	p.Ser176Leu	missense variant	-	NC_000014.9:g.60723548G>A	ExAC,gnomAD
rs1259516783	p.Ser176Pro	missense variant	-	NC_000014.9:g.60723549A>G	TOPMed
rs768191954	p.Ser176Trp	missense variant	-	NC_000014.9:g.60723548G>C	ExAC,gnomAD
rs867094320	p.Ala177Thr	missense variant	-	NC_000014.9:g.60723546C>T	gnomAD
rs1197524511	p.His179Gln	missense variant	-	NC_000014.9:g.60723538G>C	TOPMed
rs775311369	p.Pro180Thr	missense variant	-	NC_000014.9:g.60723537G>T	ExAC,TOPMed,gnomAD
rs775311369	p.Pro180Ser	missense variant	-	NC_000014.9:g.60723537G>A	ExAC,TOPMed,gnomAD
rs1459409353	p.Gln184His	missense variant	-	NC_000014.9:g.60723523C>G	gnomAD
rs745653325	p.Leu185Val	missense variant	-	NC_000014.9:g.60723522G>C	ExAC,gnomAD
rs1164809225	p.Lys188Glu	missense variant	-	NC_000014.9:g.60723513T>C	gnomAD
rs1267131451	p.Thr192Ala	missense variant	-	NC_000014.9:g.60723501T>C	TOPMed
rs900248071	p.Glu193Asp	missense variant	-	NC_000014.9:g.60723496C>G	TOPMed,gnomAD
rs1428086850	p.Ala194Thr	missense variant	-	NC_000014.9:g.60723495C>T	gnomAD
rs777970348	p.Arg196Gln	missense variant	-	NC_000014.9:g.60723488C>T	ExAC,gnomAD
rs1467174039	p.Arg196Gly	missense variant	-	NC_000014.9:g.60723489G>C	gnomAD
rs1341233558	p.Ala197Gly	missense variant	-	NC_000014.9:g.60723485G>C	gnomAD
rs1341233558	p.Ala197Val	missense variant	-	NC_000014.9:g.60723485G>A	gnomAD
rs1249343940	p.Arg198Cys	missense variant	-	NC_000014.9:g.60723483G>A	TOPMed,gnomAD
rs1226245612	p.Gly199Ser	missense variant	-	NC_000014.9:g.60723480C>T	gnomAD
rs1360336268	p.Arg200Gln	missense variant	-	NC_000014.9:g.60723476C>T	TOPMed,gnomAD
rs377457547	p.Pro201Gln	missense variant	-	NC_000014.9:g.60723473G>T	ESP,ExAC,gnomAD
rs377457547	p.Pro201Leu	missense variant	-	NC_000014.9:g.60723473G>A	ESP,ExAC,gnomAD
rs781584658	p.Leu202Pro	missense variant	-	NC_000014.9:g.60723470A>G	ExAC,gnomAD
rs755306854	p.Gly203Ala	missense variant	-	NC_000014.9:g.60723467C>G	ExAC,gnomAD
rs1410972380	p.Val205Leu	missense variant	-	NC_000014.9:g.60723462C>A	TOPMed,gnomAD
rs1399103019	p.Asp206Gly	missense variant	-	NC_000014.9:g.60723458T>C	gnomAD
rs1461795565	p.Lys207Asn	missense variant	-	NC_000014.9:g.60723454C>G	gnomAD
rs761421510	p.Arg209Gly	missense variant	-	NC_000014.9:g.60723450G>C	ExAC,gnomAD
NCI-TCGA novel	p.Arg209Trp	missense variant	-	NC_000014.9:g.60723450G>A	NCI-TCGA
rs753533658	p.Arg211Gly	missense variant	-	NC_000014.9:g.60723444G>C	ExAC,gnomAD
rs753533658	p.Arg211Cys	missense variant	-	NC_000014.9:g.60723444G>A	ExAC,gnomAD
rs763542256	p.Arg212Lys	missense variant	-	NC_000014.9:g.60723440C>T	ExAC,gnomAD
rs760134099	p.Phe214Ile	missense variant	-	NC_000014.9:g.60723435A>T	ExAC
NCI-TCGA novel	p.Pro215Ser	missense variant	-	NC_000014.9:g.60723432G>A	NCI-TCGA
rs1248320965	p.Pro217Ala	missense variant	-	NC_000014.9:g.60723426G>C	gnomAD
rs1195067920	p.Pro217Leu	missense variant	-	NC_000014.9:g.60723425G>A	gnomAD
NCI-TCGA novel	p.Arg218Cys	missense variant	-	NC_000014.9:g.60723423G>A	NCI-TCGA
rs1231574541	p.Trp221Ser	missense variant	-	NC_000014.9:g.60723413C>G	TOPMed,gnomAD
rs774285251	p.Gly223Arg	missense variant	-	NC_000014.9:g.60723408C>G	ExAC,gnomAD
rs879477760	p.Val227Leu	missense variant	-	NC_000014.9:g.60723396C>A	gnomAD
rs879477760	p.Val227Met	missense variant	-	NC_000014.9:g.60723396C>T	gnomAD
rs778163761	p.Val227Ala	missense variant	-	NC_000014.9:g.60723395A>G	ExAC,gnomAD
rs769882285	p.Tyr228Cys	missense variant	-	NC_000014.9:g.60723392T>C	ExAC,gnomAD
rs1217600145	p.Cys229Arg	missense variant	-	NC_000014.9:g.60723390A>G	TOPMed
rs755430527	p.Glu232Gln	missense variant	-	NC_000014.9:g.60723381C>G	ExAC,TOPMed,gnomAD
rs755430527	p.Glu232Lys	missense variant	-	NC_000014.9:g.60723381C>T	ExAC,TOPMed,gnomAD
COSM1323464	p.Glu232Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60723379C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn236Lys	missense variant	-	NC_000014.9:g.60723367G>C	NCI-TCGA
rs1159286333	p.Asn236Ile	missense variant	-	NC_000014.9:g.60723368T>A	gnomAD
rs547538707	p.Ala237Thr	missense variant	-	NC_000014.9:g.60723366C>T	1000Genomes,ExAC,gnomAD
rs144024030	p.Lys239Asn	missense variant	-	NC_000014.9:g.60723358C>A	ESP,ExAC,gnomAD
rs375683969	p.Lys239Arg	missense variant	-	NC_000014.9:g.60723359T>C	ESP,ExAC,TOPMed,gnomAD
rs149547964	p.Glu240Asp	missense variant	-	NC_000014.9:g.60723355C>A	ESP,ExAC,TOPMed,gnomAD
rs1055094353	p.Gln244Arg	missense variant	-	NC_000014.9:g.60723344T>C	TOPMed
rs759515898	p.Asn245Lys	missense variant	-	NC_000014.9:g.60723340A>C	ExAC,TOPMed,gnomAD
rs774479500	p.Arg246His	missense variant	-	NC_000014.9:g.60723338C>T	ExAC,gnomAD
rs766227737	p.Tyr247Ser	missense variant	-	NC_000014.9:g.60723335T>G	ExAC,gnomAD
rs1347877917	p.Tyr247His	missense variant	-	NC_000014.9:g.60723336A>G	gnomAD
NCI-TCGA novel	p.Pro248His	missense variant	-	NC_000014.9:g.60723332G>T	NCI-TCGA
rs769923957	p.Ser249Pro	missense variant	-	NC_000014.9:g.60723330A>G	ExAC,gnomAD
rs1358863800	p.Pro250Thr	missense variant	-	NC_000014.9:g.60723327G>T	gnomAD
rs1358863800	p.Pro250Ser	missense variant	-	NC_000014.9:g.60723327G>A	gnomAD
rs776538776	p.Pro250His	missense variant	-	NC_000014.9:g.60723326G>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala251Ser	missense variant	-	NC_000014.9:g.60723324C>A	NCI-TCGA
NCI-TCGA novel	p.Ala251Asp	missense variant	-	NC_000014.9:g.60723323G>T	NCI-TCGA
rs780566842	p.Glu252Asp	missense variant	-	NC_000014.9:g.60723319C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu252Ter	stop gained	-	NC_000014.9:g.60723321C>A	NCI-TCGA
rs746244840	p.Leu256Met	missense variant	-	NC_000014.9:g.60723309G>T	ExAC,TOPMed,gnomAD
rs150719134	p.Lys258Arg	missense variant	-	NC_000014.9:g.60723302T>C	ESP,ExAC,TOPMed,gnomAD
rs908681256	p.Lys258Glu	missense variant	-	NC_000014.9:g.60723303T>C	TOPMed
NCI-TCGA novel	p.Lys258Asn	missense variant	-	NC_000014.9:g.60723301C>G	NCI-TCGA
rs766917332	p.Gly261Ser	missense variant	-	NC_000014.9:g.60723294C>T	ExAC,gnomAD
rs1217439525	p.Ser263Phe	missense variant	-	NC_000014.9:g.60723287G>A	gnomAD
rs1282866906	p.Gln266Ter	stop gained	-	NC_000014.9:g.60723279G>A	gnomAD
rs1311367457	p.Ser268Gly	missense variant	-	NC_000014.9:g.60723273T>C	TOPMed
rs1242904044	p.Asn269Lys	missense variant	-	NC_000014.9:g.60723268G>T	TOPMed
rs751503615	p.Trp270Leu	missense variant	-	NC_000014.9:g.60723266C>A	ExAC,gnomAD
rs766427828	p.Phe271Tyr	missense variant	-	NC_000014.9:g.60723263A>T	ExAC,gnomAD
NCI-TCGA novel	p.Lys272Asn	missense variant	-	NC_000014.9:g.60723259C>A	NCI-TCGA
rs1364840489	p.Asn273Tyr	missense variant	-	NC_000014.9:g.60723258T>A	gnomAD
rs554636742	p.Asn273Thr	missense variant	-	NC_000014.9:g.60723257T>G	ExAC
rs1295633095	p.Arg274Ser	missense variant	-	NC_000014.9:g.60723255G>T	gnomAD
rs1378859461	p.Arg277Cys	missense variant	-	NC_000014.9:g.60723246G>A	gnomAD
rs772871390	p.Asp278Asn	missense variant	-	NC_000014.9:g.60723243C>T	ExAC,gnomAD
rs772871390	p.Asp278Tyr	missense variant	-	NC_000014.9:g.60723243C>A	ExAC,gnomAD
rs1029034096	p.Arg279Lys	missense variant	-	NC_000014.9:g.60723239C>T	TOPMed
rs761915815	p.Pro281Thr	missense variant	-	NC_000014.9:g.60723234G>T	ExAC,TOPMed,gnomAD
rs761915815	p.Pro281Ser	missense variant	-	NC_000014.9:g.60723234G>A	ExAC,TOPMed,gnomAD
rs768573845	p.Ser282Thr	missense variant	-	NC_000014.9:g.60723231A>T	ExAC,TOPMed,gnomAD
rs1423056420	p.Glu283Gly	missense variant	-	NC_000014.9:g.60723227T>C	gnomAD
rs981461204	p.Glu283Lys	missense variant	-	NC_000014.9:g.60723228C>T	TOPMed
rs775917475	p.Thr284Asn	missense variant	-	NC_000014.9:g.60723224G>T	ExAC,gnomAD
rs746439285	p.Gln285His	missense variant	-	NC_000014.9:g.60723220C>A	ExAC,gnomAD
rs1193779796	p.Lys287Arg	missense variant	-	NC_000014.9:g.60723215T>C	gnomAD
rs1275643006	p.Ser288Asn	missense variant	-	NC_000014.9:g.60723212C>T	TOPMed,gnomAD
rs1469400804	p.Ser288Gly	missense variant	-	NC_000014.9:g.60723213T>C	gnomAD
rs1274247500	p.Glu289Gln	missense variant	-	NC_000014.9:g.60720444C>G	TOPMed
rs768415060	p.Ser290Leu	missense variant	-	NC_000014.9:g.60720440G>A	ExAC,gnomAD
rs1367036432	p.Gly292Ser	missense variant	-	NC_000014.9:g.60720435C>T	gnomAD
rs779683654	p.Gly292Asp	missense variant	-	NC_000014.9:g.60720434C>T	ExAC
NCI-TCGA novel	p.Glu297Val	missense variant	-	NC_000014.9:g.60720419T>A	NCI-TCGA
rs1341050009	p.Ser301Asn	missense variant	-	NC_000014.9:g.60720407C>T	TOPMed
COSM3496673	p.Gly303Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60720401C>A	NCI-TCGA Cosmic
rs756941561	p.His304Leu	missense variant	-	NC_000014.9:g.60720398T>A	ExAC,TOPMed,gnomAD
rs948749164	p.His304Tyr	missense variant	-	NC_000014.9:g.60720399G>A	TOPMed
rs753653067	p.Glu305Lys	missense variant	-	NC_000014.9:g.60720396C>T	ExAC,gnomAD
rs917378814	p.Asp306Asn	missense variant	-	NC_000014.9:g.60720393C>T	TOPMed
rs763942270	p.Leu307Ser	missense variant	-	NC_000014.9:g.60720389A>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu307Val	missense variant	-	NC_000014.9:g.60720390A>C	NCI-TCGA
rs760854065	p.Pro309His	missense variant	-	NC_000014.9:g.60720383G>T	ExAC,gnomAD
COSM3886163	p.Pro309Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60720384G>A	NCI-TCGA Cosmic
rs1215445010	p.His310Arg	missense variant	-	NC_000014.9:g.60720380T>C	gnomAD
rs752966828	p.Pro311Ser	missense variant	-	NC_000014.9:g.60720378G>A	ExAC,TOPMed,gnomAD
rs767537596	p.Ser313Cys	missense variant	-	NC_000014.9:g.60720371G>C	ExAC,gnomAD
rs767537596	p.Ser313Phe	missense variant	-	NC_000014.9:g.60720371G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser316Cys	missense variant	-	NC_000014.9:g.60720362G>C	NCI-TCGA
NCI-TCGA novel	p.Asp317Asn	missense variant	-	NC_000014.9:g.60720360C>T	NCI-TCGA
rs774654717	p.Gly318Asp	missense variant	-	NC_000014.9:g.60720356C>T	ExAC,gnomAD
rs1294915313	p.Thr320Asn	missense variant	-	NC_000014.9:g.60720350G>T	gnomAD
rs141484791	p.Asn321Ser	missense variant	-	NC_000014.9:g.60720347T>C	ESP,ExAC,TOPMed,gnomAD
rs555790027	p.Ser323Ile	missense variant	-	NC_000014.9:g.60720341C>A	1000Genomes
rs773710587	p.Leu324Phe	missense variant	-	NC_000014.9:g.60720339G>A	ExAC,TOPMed,gnomAD
rs1445466633	p.Met328Ile	missense variant	-	NC_000014.9:g.60720325C>T	TOPMed
rs1462804425	p.Gln334His	missense variant	-	NC_000014.9:g.60720307T>A	gnomAD
rs775311477	p.Gln334Lys	missense variant	-	NC_000014.9:g.60720309G>T	ExAC,TOPMed,gnomAD
rs1411884787	p.Gln334Pro	missense variant	-	NC_000014.9:g.60720308T>G	TOPMed
rs771636811	p.Ile336Val	missense variant	-	NC_000014.9:g.60720303T>C	ExAC,gnomAD
rs745392790	p.Gly337Ala	missense variant	-	NC_000014.9:g.60720299C>G	ExAC,gnomAD
rs1253654769	p.Asn338Tyr	missense variant	-	NC_000014.9:g.60720297T>A	TOPMed,gnomAD
rs535591004	p.Ala339Val	missense variant	-	NC_000014.9:g.60720293G>A	1000Genomes,ExAC,gnomAD
rs1345750373	p.Lys340Glu	missense variant	-	NC_000014.9:g.60720291T>C	TOPMed
COSM3419931	p.Lys340Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60720289C>A	NCI-TCGA Cosmic
rs1341169959	p.Ile341Thr	missense variant	-	NC_000014.9:g.60720287A>G	gnomAD
rs1196205873	p.Ile341Leu	missense variant	-	NC_000014.9:g.60720288T>G	gnomAD
rs777521150	p.Ser344Cys	missense variant	-	NC_000014.9:g.60720279T>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly347Glu	missense variant	-	NC_000014.9:g.60720269C>T	NCI-TCGA
rs1318312179	p.Leu349Pro	missense variant	-	NC_000014.9:g.60720263A>G	TOPMed
rs1304906326	p.Leu349Met	missense variant	-	NC_000014.9:g.60720264G>T	TOPMed,gnomAD
rs1433671559	p.Leu350Met	missense variant	-	NC_000014.9:g.60720261A>T	TOPMed,gnomAD
rs138601362	p.Asn351Ser	missense variant	-	NC_000014.9:g.60720257T>C	ESP,ExAC,TOPMed,gnomAD
rs1285644552	p.Gly352Glu	missense variant	-	NC_000014.9:g.60720254C>T	TOPMed
rs144643214	p.Val355Leu	missense variant	-	NC_000014.9:g.60720246C>G	ESP,gnomAD
rs1353780660	p.Pro356Ser	missense variant	-	NC_000014.9:g.60720243G>A	TOPMed
rs1392378259	p.Pro356Arg	missense variant	-	NC_000014.9:g.60720242G>C	gnomAD
rs767731543	p.Ala357Ser	missense variant	-	NC_000014.9:g.60720240C>A	ExAC,gnomAD
rs751648573	p.Ser358Thr	missense variant	-	NC_000014.9:g.60720236C>G	ExAC,gnomAD
rs751648573	p.Ser358Asn	missense variant	-	NC_000014.9:g.60720236C>T	ExAC,gnomAD
rs754956376	p.Ser358Gly	missense variant	-	NC_000014.9:g.60720237T>C	ExAC,gnomAD
COSM4403029	p.Ser360Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60720230G>A	NCI-TCGA Cosmic
rs376577214	p.Pro361Ser	missense variant	-	NC_000014.9:g.60720228G>A	ESP,TOPMed,gnomAD
rs766439878	p.Val362Ile	missense variant	-	NC_000014.9:g.60720225C>T	ExAC,gnomAD
rs373554061	p.Phe363Ser	missense variant	-	NC_000014.9:g.60720221A>G	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Phe363Cys	missense variant	-	NC_000014.9:g.60720221A>C	NCI-TCGA
rs1182385234	p.Gly366Arg	missense variant	-	NC_000014.9:g.60720213C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Asn367Ser	missense variant	-	NC_000014.9:g.60720209T>C	NCI-TCGA
rs369624724	p.Ser368Tyr	missense variant	-	NC_000014.9:g.60720206G>T	ESP,ExAC,gnomAD
COSM3987704	p.Ile370Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60720201T>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln371ArgPheSerTerUnk	frameshift	-	NC_000014.9:g.60720196_60720197CT>-	NCI-TCGA
rs765653999	p.Gly372Arg	missense variant	-	NC_000014.9:g.60720195C>G	ExAC,gnomAD
rs377168936	p.Pro373Leu	missense variant	-	NC_000014.9:g.60720191G>A	ESP,ExAC,TOPMed,gnomAD
rs377168936	p.Pro373Arg	missense variant	-	NC_000014.9:g.60720191G>C	ESP,ExAC,TOPMed,gnomAD
rs1324085543	p.Ser374Asn	missense variant	-	NC_000014.9:g.60720188C>T	gnomAD
rs775221269	p.Val376Ile	missense variant	-	NC_000014.9:g.60720183C>T	ExAC,gnomAD
rs771738530	p.Ile377Thr	missense variant	-	NC_000014.9:g.60720179A>G	ExAC,gnomAD
rs1343638010	p.Gly380Arg	missense variant	-	NC_000014.9:g.60720171C>T	gnomAD
rs909521071	p.Leu381Ile	missense variant	-	NC_000014.9:g.60720168A>T	TOPMed
COSM4051589	p.Gly384Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60720158C>T	NCI-TCGA Cosmic
rs745573597	p.Gln387Glu	missense variant	-	NC_000014.9:g.60720150G>C	ExAC,gnomAD
rs1240330555	p.Gln387Pro	missense variant	-	NC_000014.9:g.60720149T>G	gnomAD
rs1409600652	p.Ala390Thr	missense variant	-	NC_000014.9:g.60720141C>T	gnomAD
rs1159243746	p.Asn392Lys	missense variant	-	NC_000014.9:g.60720133G>C	TOPMed
rs140880760	p.Pro393Ser	missense variant	-	NC_000014.9:g.60720132G>A	ESP,ExAC,TOPMed,gnomAD
COSM4939195	p.Ser398Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.60720116G>C	NCI-TCGA Cosmic
rs777721402	p.Ser398Thr	missense variant	-	NC_000014.9:g.60720117A>T	ExAC,gnomAD
rs372742460	p.Asn399Ile	missense variant	-	NC_000014.9:g.60720113T>A	ESP,ExAC,gnomAD
rs747951615	p.Ile400Val	missense variant	-	NC_000014.9:g.60720111T>C	ExAC,gnomAD
rs201433195	p.Gly404Asp	missense variant	-	NC_000014.9:g.60720098C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1475394722	p.Ser406Tyr	missense variant	-	NC_000014.9:g.60720092G>T	TOPMed,gnomAD
rs1387789958	p.Met407Val	missense variant	-	NC_000014.9:g.60720090T>C	TOPMed
NCI-TCGA novel	p.Thr408Ser	missense variant	-	NC_000014.9:g.60720087T>A	NCI-TCGA
rs1259241156	p.Asp409Tyr	missense variant	-	NC_000014.9:g.60720084C>A	gnomAD
rs1453152540	p.Leu411Pro	missense variant	-	NC_000014.9:g.60720077A>G	TOPMed
rs750889907	p.Gly412Glu	missense variant	-	NC_000014.9:g.60720074C>T	ExAC,gnomAD
rs758435860	p.Gly412Trp	missense variant	-	NC_000014.9:g.60720075C>A	ExAC,TOPMed,gnomAD
rs758435860	p.Gly412Arg	missense variant	-	NC_000014.9:g.60720075C>G	ExAC,TOPMed,gnomAD
rs765850223	p.Ser413Cys	missense variant	-	NC_000014.9:g.60720071G>C	ExAC,gnomAD
rs762464402	p.Thr414Ala	missense variant	-	NC_000014.9:g.60720069T>C	ExAC,gnomAD
rs1446755480	p.Thr414Ile	missense variant	-	NC_000014.9:g.60720068G>A	TOPMed
rs1228220520	p.Ser415Pro	missense variant	-	NC_000014.9:g.60720066A>G	gnomAD
rs1279634297	p.Ser415Phe	missense variant	-	NC_000014.9:g.60720065G>A	TOPMed
rs1388241188	p.Gln416Arg	missense variant	-	NC_000014.9:g.60720062T>C	TOPMed,gnomAD
rs764404433	p.Gln416His	missense variant	-	NC_000014.9:g.60720061C>A	ExAC,gnomAD
rs1446008267	p.Asp417Asn	missense variant	-	NC_000014.9:g.60720060C>T	gnomAD
rs1268108196	p.Val418Met	missense variant	-	NC_000014.9:g.60720057C>T	TOPMed
NCI-TCGA novel	p.Glu420Asp	missense variant	-	NC_000014.9:g.60720049T>A	NCI-TCGA
rs1319131548	p.Glu420Ter	stop gained	-	NC_000014.9:g.60720051C>A	gnomAD
NCI-TCGA novel	p.Phe421Leu	missense variant	-	NC_000014.9:g.60720046G>T	NCI-TCGA
rs759203712	p.Lys422Arg	missense variant	-	NC_000014.9:g.60720044T>C	ExAC,gnomAD
rs143336634	p.Val423Ile	missense variant	-	NC_000014.9:g.60720042C>T	ESP,ExAC,TOPMed,gnomAD
rs947061026	p.Ala428Pro	missense variant	-	NC_000014.9:g.60720027C>G	TOPMed
rs768453686	p.Ala428Asp	missense variant	-	NC_000014.9:g.60720026G>T	ExAC,gnomAD
rs1461786853	p.Asn429Asp	missense variant	-	NC_000014.9:g.60720024T>C	TOPMed,gnomAD
rs61740042	p.Thr432Ala	missense variant	-	NC_000014.9:g.60720015T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs769707973	p.Thr432Asn	missense variant	-	NC_000014.9:g.60720014G>T	ExAC,TOPMed,gnomAD
COSM1370368	p.Thr432Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60720014G>C	NCI-TCGA Cosmic
rs775441122	p.Thr434Met	missense variant	-	NC_000014.9:g.60720008G>A	ExAC,TOPMed,gnomAD
rs775441122	p.Thr434Lys	missense variant	-	NC_000014.9:g.60720008G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser435Cys	missense variant	-	NC_000014.9:g.60720005G>C	NCI-TCGA
rs758490488	p.Ser437Asn	missense variant	-	NC_000014.9:g.60719999C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro438Ser	missense variant	-	NC_000014.9:g.60719997G>A	NCI-TCGA
NCI-TCGA novel	p.Val440Ile	missense variant	-	NC_000014.9:g.60719991C>T	NCI-TCGA
rs1208610513	p.Ser443Leu	missense variant	-	NC_000014.9:g.60719981G>A	gnomAD
rs750515774	p.Gly446Asp	missense variant	-	NC_000014.9:g.60719972C>T	ExAC,TOPMed,gnomAD
rs1355996270	p.Ile448Val	missense variant	-	NC_000014.9:g.60719967T>C	gnomAD
rs779197948	p.Pro449Ala	missense variant	-	NC_000014.9:g.60719964G>C	ExAC,TOPMed,gnomAD
rs779197948	p.Pro449Ser	missense variant	-	NC_000014.9:g.60719964G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser450Asn	missense variant	-	NC_000014.9:g.60719960C>T	NCI-TCGA
rs550941900	p.Thr451Ile	missense variant	-	NC_000014.9:g.60719957G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs550941900	p.Thr451Ser	missense variant	-	NC_000014.9:g.60719957G>C	1000Genomes,ExAC,TOPMed,gnomAD
COSM1477665	p.Arg455Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60719945C>G	NCI-TCGA Cosmic
COSM1370367	p.Ile458Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60719936A>G	NCI-TCGA Cosmic
rs760978242	p.Gln459Arg	missense variant	-	NC_000014.9:g.60719933T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr460Ala	missense variant	-	NC_000014.9:g.60719931T>C	NCI-TCGA
NCI-TCGA novel	p.Val461Leu	missense variant	-	NC_000014.9:g.60719928C>A	NCI-TCGA
rs751157305	p.Ala462Gly	missense variant	-	NC_000014.9:g.60719924G>C	ExAC,gnomAD
COSM285006	p.Ala462Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60719925C>T	NCI-TCGA Cosmic
rs765963137	p.Ser463Phe	missense variant	-	NC_000014.9:g.60719921G>A	ExAC,gnomAD
COSM1562598	p.Asp465Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60719915T>C	NCI-TCGA Cosmic
rs1346723811	p.Gly467Val	missense variant	-	NC_000014.9:g.60719909C>A	TOPMed
rs1287118294	p.Gly467Arg	missense variant	-	NC_000014.9:g.60719910C>T	TOPMed
rs1235998908	p.Ser468Pro	missense variant	-	NC_000014.9:g.60719907A>G	TOPMed
rs1000491025	p.Val469Ile	missense variant	-	NC_000014.9:g.60719904C>T	TOPMed
rs530684279	p.Val476Met	missense variant	-	NC_000014.9:g.60719883C>T	1000Genomes,ExAC,gnomAD
rs1344834254	p.Gln477Glu	missense variant	-	NC_000014.9:g.60719880G>C	TOPMed
rs1170046761	p.Gln480Arg	missense variant	-	NC_000014.9:g.60719870T>C	gnomAD
rs904447933	p.Gln480His	missense variant	-	NC_000014.9:g.60719869C>G	TOPMed
rs772707329	p.Gly482Ser	missense variant	-	NC_000014.9:g.60719865C>T	ExAC,gnomAD
COSM4051588	p.Gly482Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60719864C>A	NCI-TCGA Cosmic
rs145386126	p.Ile483Thr	missense variant	-	NC_000014.9:g.60719861A>G	ESP,TOPMed,gnomAD
rs145386126	p.Ile483Asn	missense variant	-	NC_000014.9:g.60719861A>T	ESP,TOPMed,gnomAD
rs1277086718	p.Ile483Val	missense variant	-	NC_000014.9:g.60719862T>C	TOPMed
rs1204550834	p.Gln485Ter	stop gained	-	NC_000014.9:g.60719856G>A	TOPMed
rs761720723	p.Ile486Asn	missense variant	-	NC_000014.9:g.60719852A>T	ExAC,TOPMed,gnomAD
rs776459445	p.Asn488Asp	missense variant	-	NC_000014.9:g.60719847T>C	ExAC,gnomAD
rs1433703709	p.Asn488Ser	missense variant	-	NC_000014.9:g.60719846T>C	TOPMed
rs61743413	p.Gly490Arg	missense variant	-	NC_000014.9:g.60719841C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala491Thr	missense variant	-	NC_000014.9:g.60719838C>T	NCI-TCGA
rs1230833872	p.Asn492Asp	missense variant	-	NC_000014.9:g.60719835T>C	TOPMed,gnomAD
rs1230833872	p.Asn492Tyr	missense variant	-	NC_000014.9:g.60719835T>A	TOPMed,gnomAD
rs772416382	p.Asn492Ser	missense variant	-	NC_000014.9:g.60719834T>C	ExAC,gnomAD
rs1168962315	p.Ser493Gly	missense variant	-	NC_000014.9:g.60719832T>C	TOPMed
rs779112035	p.Gln494His	missense variant	-	NC_000014.9:g.60719827C>G	ExAC,TOPMed,gnomAD
rs147040477	p.Phe495Leu	missense variant	-	NC_000014.9:g.60719824G>T	ESP,ExAC,TOPMed,gnomAD
rs1012956373	p.Ser499Asn	missense variant	-	NC_000014.9:g.60719813C>T	TOPMed
rs778148156	p.Ile500Thr	missense variant	-	NC_000014.9:g.60719810A>G	ExAC,TOPMed,gnomAD
rs1202874522	p.Gly501Ala	missense variant	-	NC_000014.9:g.60719807C>G	gnomAD
COSM1370366	p.Phe502Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60719803G>T	NCI-TCGA Cosmic
rs367915180	p.Leu505Pro	missense variant	-	NC_000014.9:g.60719795A>G	ESP,ExAC,TOPMed,gnomAD
rs1228651192	p.Pro508His	missense variant	-	NC_000014.9:g.60719786G>T	TOPMed
rs1057261805	p.Pro508Ser	missense variant	-	NC_000014.9:g.60719787G>A	TOPMed
rs141516639	p.Pro509Thr	missense variant	-	NC_000014.9:g.60719784G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141516639	p.Pro509Ser	missense variant	-	NC_000014.9:g.60719784G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val510Met	missense variant	-	NC_000014.9:g.60719781C>T	NCI-TCGA
rs1389155823	p.Gln516Arg	missense variant	-	NC_000014.9:g.60719762T>C	gnomAD
rs1366990479	p.Gly517Val	missense variant	-	NC_000014.9:g.60714203C>A	gnomAD
COSM956751	p.Gly517Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60719760C>A	NCI-TCGA Cosmic
COSM3496672	p.Gly517Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60714203C>T	NCI-TCGA Cosmic
rs1164287142	p.Asn518Tyr	missense variant	-	NC_000014.9:g.60714201T>A	gnomAD
rs1450201105	p.Asn518Ile	missense variant	-	NC_000014.9:g.60714200T>A	gnomAD
rs775517376	p.Ile519Phe	missense variant	-	NC_000014.9:g.60714198T>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser520LeuPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.60714194_60714195insGTCA	NCI-TCGA
rs759409239	p.Val521Ala	missense variant	-	NC_000014.9:g.60714191A>G	ExAC,gnomAD
rs147871425	p.Thr525Ile	missense variant	-	NC_000014.9:g.60714179G>A	ESP,ExAC,TOPMed,gnomAD
rs1211456661	p.Ser526Pro	missense variant	-	NC_000014.9:g.60714177A>G	gnomAD
rs1487367941	p.Asp527Tyr	missense variant	-	NC_000014.9:g.60714174C>A	gnomAD
rs144758266	p.Asp527Glu	missense variant	-	NC_000014.9:g.60714172A>T	ESP,ExAC,TOPMed,gnomAD
rs773136354	p.Phe531Val	missense variant	-	NC_000014.9:g.60714162A>C	ExAC,TOPMed,gnomAD
rs773136354	p.Phe531Leu	missense variant	-	NC_000014.9:g.60714162A>G	ExAC,TOPMed,gnomAD
rs560469981	p.Thr532Lys	missense variant	-	NC_000014.9:g.60714158G>T	1000Genomes,ExAC,gnomAD
rs560469981	p.Thr532Ile	missense variant	-	NC_000014.9:g.60714158G>A	1000Genomes,ExAC,gnomAD
rs769968389	p.Thr532Ala	missense variant	-	NC_000014.9:g.60714159T>C	ExAC,gnomAD
rs781690841	p.Glu534Ala	missense variant	-	NC_000014.9:g.60714152T>G	ExAC,gnomAD
rs781690841	p.Glu534Gly	missense variant	-	NC_000014.9:g.60714152T>C	ExAC,gnomAD
rs755272792	p.Thr536Pro	missense variant	-	NC_000014.9:g.60714147T>G	ExAC,gnomAD
rs1169735350	p.Thr537Ile	missense variant	-	NC_000014.9:g.60714143G>A	gnomAD
rs747356704	p.Gln539Ter	stop gained	-	NC_000014.9:g.60714138G>A	ExAC,gnomAD
rs756827092	p.Gly541Glu	missense variant	-	NC_000014.9:g.60714131C>T	ExAC,TOPMed,gnomAD
rs756827092	p.Gly541Ala	missense variant	-	NC_000014.9:g.60714131C>G	ExAC,TOPMed,gnomAD
rs763462190	p.Val543Ala	missense variant	-	NC_000014.9:g.60714125A>G	ExAC,gnomAD
rs1392240504	p.Val543Ile	missense variant	-	NC_000014.9:g.60714126C>T	gnomAD
COSM4051587	p.Phe544Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60714121G>T	NCI-TCGA Cosmic
COSM3419929	p.Phe544Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60714122A>G	NCI-TCGA Cosmic
rs755679632	p.Ser546Arg	missense variant	-	NC_000014.9:g.60714115G>C	ExAC,TOPMed,gnomAD
rs1378177991	p.Ser547Ala	missense variant	-	NC_000014.9:g.60714114A>C	TOPMed,gnomAD
rs1378177991	p.Ser547Pro	missense variant	-	NC_000014.9:g.60714114A>G	TOPMed,gnomAD
rs767574850	p.Leu548Pro	missense variant	-	NC_000014.9:g.60714110A>G	ExAC,gnomAD
rs752615484	p.Leu548Phe	missense variant	-	NC_000014.9:g.60714111G>A	ExAC,TOPMed,gnomAD
rs1266343975	p.Ala549Thr	missense variant	-	NC_000014.9:g.60714108C>T	TOPMed,gnomAD
rs759605736	p.Pro550Thr	missense variant	-	NC_000014.9:g.60714105G>T	ExAC,gnomAD
rs759605736	p.Pro550Ala	missense variant	-	NC_000014.9:g.60714105G>C	ExAC,gnomAD
rs546778627	p.Ser551Asn	missense variant	-	NC_000014.9:g.60714101C>T	1000Genomes,ExAC,gnomAD
rs766238530	p.Ser551Arg	missense variant	-	NC_000014.9:g.60714102T>G	ExAC,TOPMed,gnomAD
rs536442725	p.Thr556Met	missense variant	-	NC_000014.9:g.60714086G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs776746445	p.Thr560Ile	missense variant	-	NC_000014.9:g.60714074G>A	ExAC,gnomAD
rs758301893	p.Gly561Asp	missense variant	-	NC_000014.9:g.60714071C>T	TOPMed
NCI-TCGA novel	p.Gly561Cys	missense variant	-	NC_000014.9:g.60714072C>A	NCI-TCGA
rs1410822365	p.Thr563Ser	missense variant	-	NC_000014.9:g.60714065G>C	gnomAD
rs769143169	p.Ile564Val	missense variant	-	NC_000014.9:g.60714063T>C	ExAC,gnomAD
rs772506458	p.Leu576Arg	missense variant	-	NC_000014.9:g.60714026A>C	ExAC,TOPMed,gnomAD
rs772506458	p.Leu576Gln	missense variant	-	NC_000014.9:g.60714026A>T	ExAC,TOPMed,gnomAD
rs748851492	p.Phe578Leu	missense variant	-	NC_000014.9:g.60714021A>G	ExAC,gnomAD
rs1237675183	p.Gln580Ter	stop gained	-	NC_000014.9:g.60714015G>A	gnomAD
rs1473438599	p.Met582Ile	missense variant	-	NC_000014.9:g.60714007C>T	gnomAD
rs1484382110	p.Met582Val	missense variant	-	NC_000014.9:g.60714009T>C	TOPMed,gnomAD
rs777485585	p.Val584Ile	missense variant	-	NC_000014.9:g.60714003C>T	ExAC,gnomAD
rs142590432	p.Asn585Ser	missense variant	-	NC_000014.9:g.60713999T>C	ESP,TOPMed
NCI-TCGA novel	p.Ala588Glu	missense variant	-	NC_000014.9:g.60713990G>T	NCI-TCGA
rs752241775	p.Gln589Glu	missense variant	-	NC_000014.9:g.60713988G>C	ExAC,gnomAD
rs780916999	p.Val590Ile	missense variant	-	NC_000014.9:g.60713985C>T	ExAC,gnomAD
rs754936515	p.Asn591His	missense variant	-	NC_000014.9:g.60713982T>G	ExAC,gnomAD
rs751598280	p.Ala592Val	missense variant	-	NC_000014.9:g.60713978G>A	ExAC,gnomAD
rs77115877	p.Asn593Ile	missense variant	-	NC_000014.9:g.60713975T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs374037409	p.Leu594Val	missense variant	-	NC_000014.9:g.60713973G>C	ESP,ExAC,TOPMed,gnomAD
COSM1370365	p.Asn598His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60713961T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn598Asp	missense variant	-	NC_000014.9:g.60713961T>C	NCI-TCGA
rs765514631	p.Ser600Leu	missense variant	-	NC_000014.9:g.60713954G>A	ExAC,TOPMed,gnomAD
rs151207390	p.Ser600Ala	missense variant	-	NC_000014.9:g.60713955A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs762084688	p.Gly601Arg	missense variant	-	NC_000014.9:g.60713952C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly601Val	missense variant	-	NC_000014.9:g.60713951C>A	NCI-TCGA
rs776656826	p.Gly603Ser	missense variant	-	NC_000014.9:g.60713946C>T	ExAC,TOPMed,gnomAD
rs1336323089	p.Gly603Asp	missense variant	-	NC_000014.9:g.60713945C>T	gnomAD
rs3742636	p.His605Pro	missense variant	-	NC_000014.9:g.60713939T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1159753540	p.Ser609Phe	missense variant	-	NC_000014.9:g.60713927G>A	gnomAD
COSM956750	p.Leu611Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60713921A>G	NCI-TCGA Cosmic
rs776006989	p.Asn613Ile	missense variant	-	NC_000014.9:g.60713915T>A	ExAC,TOPMed,gnomAD
rs746256722	p.Ser615Phe	missense variant	-	NC_000014.9:g.60713909G>A	ExAC,TOPMed,gnomAD
rs769482939	p.Asn619His	missense variant	-	NC_000014.9:g.60713898T>G	ExAC,gnomAD
rs769482939	p.Asn619Asp	missense variant	-	NC_000014.9:g.60713898T>C	ExAC,gnomAD
NCI-TCGA novel	p.Phe620Ser	missense variant	-	NC_000014.9:g.60713894A>G	NCI-TCGA
rs141550969	p.Ser623Gly	missense variant	-	NC_000014.9:g.60713886T>C	ESP,ExAC,TOPMed,gnomAD
COSM3886162	p.Pro624Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60713882G>A	NCI-TCGA Cosmic
rs1282903361	p.Thr626Ala	missense variant	-	NC_000014.9:g.60713877T>C	TOPMed
rs1441309849	p.Thr626Ile	missense variant	-	NC_000014.9:g.60713876G>A	TOPMed,gnomAD
rs780048379	p.Leu628Arg	missense variant	-	NC_000014.9:g.60713870A>C	ExAC
rs746906318	p.Leu628Val	missense variant	-	NC_000014.9:g.60713871G>C	ExAC,TOPMed,gnomAD
rs758075610	p.Pro630Leu	missense variant	-	NC_000014.9:g.60713864G>A	ExAC,TOPMed,gnomAD
COSM3496671	p.Pro630Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60713865G>A	NCI-TCGA Cosmic
rs758075610	p.Pro630His	missense variant	-	NC_000014.9:g.60713864G>T	ExAC,TOPMed,gnomAD
rs764976908	p.Arg635Ser	missense variant	-	NC_000014.9:g.60713850G>T	ExAC,TOPMed,gnomAD
rs764976908	p.Arg635Cys	missense variant	-	NC_000014.9:g.60713850G>A	ExAC,TOPMed,gnomAD
rs972473681	p.Arg635His	missense variant	-	NC_000014.9:g.60713849C>T	TOPMed,gnomAD
rs760747617	p.Asp636Glu	missense variant	-	NC_000014.9:g.60713845G>T	ExAC,gnomAD
rs115086834	p.Asp636His	missense variant	-	NC_000014.9:g.60713847C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs115086834	p.Asp636Asn	missense variant	-	NC_000014.9:g.60713847C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1030551040	p.Asp639Asn	missense variant	-	NC_000014.9:g.60713838C>T	TOPMed,gnomAD
rs760029533	p.Pro642Arg	missense variant	-	NC_000014.9:g.60713828G>C	ExAC,TOPMed,gnomAD
rs760029533	p.Pro642Leu	missense variant	-	NC_000014.9:g.60713828G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser644Thr	missense variant	-	NC_000014.9:g.60713823A>T	NCI-TCGA
rs368341336	p.Pro646Thr	missense variant	-	NC_000014.9:g.60713817G>T	ESP,ExAC,TOPMed,gnomAD
rs374417781	p.Pro646Leu	missense variant	-	NC_000014.9:g.60713816G>A	ESP,ExAC,TOPMed,gnomAD
rs747756138	p.Val647Leu	missense variant	-	NC_000014.9:g.60713814C>A	ExAC,gnomAD
rs370999892	p.Ala648Ser	missense variant	-	NC_000014.9:g.60713811C>A	ESP,ExAC,TOPMed,gnomAD
rs1341491091	p.Lys650Asn	missense variant	-	NC_000014.9:g.60713803T>G	TOPMed
NCI-TCGA novel	p.Lys650Asn	missense variant	-	NC_000014.9:g.60713803T>A	NCI-TCGA
NCI-TCGA novel	p.Lys650Ile	missense variant	-	NC_000014.9:g.60713804T>A	NCI-TCGA
rs1452504369	p.Ser651Tyr	missense variant	-	NC_000014.9:g.60713801G>T	gnomAD
rs768218801	p.Thr652Ala	missense variant	-	NC_000014.9:g.60713799T>C	ExAC,TOPMed,gnomAD
rs554051282	p.Thr652Ile	missense variant	-	NC_000014.9:g.60713798G>A	1000Genomes,ExAC,gnomAD
rs768218801	p.Thr652Ser	missense variant	-	NC_000014.9:g.60713799T>A	ExAC,TOPMed,gnomAD
rs758321374	p.Val653Ala	missense variant	-	NC_000014.9:g.60713795A>G	ExAC,gnomAD
rs142166461	p.Ser655Thr	missense variant	-	NC_000014.9:g.60713790A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs577860775	p.Ser657Asn	missense variant	-	NC_000014.9:g.60713783C>T	1000Genomes,ExAC,gnomAD
rs757073030	p.Thr659Ala	missense variant	-	NC_000014.9:g.60713778T>C	ExAC,TOPMed,gnomAD
rs888169297	p.Thr659Ile	missense variant	-	NC_000014.9:g.60713777G>A	gnomAD
NCI-TCGA novel	p.Tyr661Ter	stop gained	-	NC_000014.9:g.60713770A>T	NCI-TCGA
rs757349118	p.Thr663Ala	missense variant	-	NC_000014.9:g.60713766T>C	ExAC,TOPMed,gnomAD
rs948378659	p.Asn666Thr	missense variant	-	NC_000014.9:g.60713756T>G	gnomAD
rs1169985092	p.Cys667Gly	missense variant	-	NC_000014.9:g.60713754A>C	TOPMed,gnomAD
rs150247816	p.Leu669Ile	missense variant	-	NC_000014.9:g.60713748G>T	ESP,ExAC,TOPMed,gnomAD
rs150247816	p.Leu669Phe	missense variant	-	NC_000014.9:g.60713748G>A	ESP,ExAC,TOPMed,gnomAD
rs752817146	p.Ile670Thr	missense variant	-	NC_000014.9:g.60713744A>G	ExAC,gnomAD
rs767534744	p.Thr671Asn	missense variant	-	NC_000014.9:g.60713741G>T	ExAC,TOPMed,gnomAD
rs767534744	p.Thr671Ser	missense variant	-	NC_000014.9:g.60713741G>C	ExAC,TOPMed,gnomAD
rs760067456	p.Gly672Ser	missense variant	-	NC_000014.9:g.60713739C>T	ExAC,TOPMed,gnomAD
rs760067456	p.Gly672Arg	missense variant	-	NC_000014.9:g.60713739C>G	ExAC,TOPMed,gnomAD
rs182231268	p.Asp674Gly	missense variant	-	NC_000014.9:g.60713732T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1361594601	p.Pro679Ser	missense variant	-	NC_000014.9:g.60713718G>A	TOPMed
NCI-TCGA novel	p.Pro679Ala	missense variant	-	NC_000014.9:g.60713718G>C	NCI-TCGA
rs763418113	p.Met680Val	missense variant	-	NC_000014.9:g.60713715T>C	ExAC,TOPMed,gnomAD
rs768413478	p.Ala683Ser	missense variant	-	NC_000014.9:g.60713706C>A	ExAC,gnomAD
COSM3401378	p.Leu685Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60713700G>C	NCI-TCGA Cosmic
rs796487039	p.Glu687Lys	missense variant	-	NC_000014.9:g.60713694C>T	gnomAD
rs746676772	p.Ile688Thr	missense variant	-	NC_000014.9:g.60713690A>G	ExAC,gnomAD
rs1309421370	p.Ile688Val	missense variant	-	NC_000014.9:g.60713691T>C	gnomAD
rs1170377595	p.Pro690Ala	missense variant	-	NC_000014.9:g.60713685G>C	gnomAD
NCI-TCGA novel	p.Pro690His	missense variant	-	NC_000014.9:g.60713684G>T	NCI-TCGA
rs1415602222	p.Thr691Ile	missense variant	-	NC_000014.9:g.60713681G>A	gnomAD
rs771500878	p.Ala692Gly	missense variant	-	NC_000014.9:g.60713678G>C	ExAC,TOPMed,gnomAD
rs1317332309	p.Glu693Gln	missense variant	-	NC_000014.9:g.60713676C>G	TOPMed
COSM3496670	p.Gln695Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.60713670G>A	NCI-TCGA Cosmic
rs569357412	p.Val696Gly	missense variant	-	NC_000014.9:g.60713666A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs569357412	p.Val696Ala	missense variant	-	NC_000014.9:g.60713666A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1484017750	p.His698Tyr	missense variant	-	NC_000014.9:g.60713661G>A	gnomAD
rs1480301466	p.Pro699Leu	missense variant	-	NC_000014.9:g.60713657G>A	TOPMed,gnomAD
rs778718586	p.Ser700Thr	missense variant	-	NC_000014.9:g.60713655A>T	ExAC
rs1252839196	p.Ser700Phe	missense variant	-	NC_000014.9:g.60713654G>A	gnomAD
rs148735400	p.Pro701Ala	missense variant	-	NC_000014.9:g.60713652G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM4476849	p.Pro701Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60713652G>A	NCI-TCGA Cosmic
rs764240580	p.Ala702Gly	missense variant	-	NC_000014.9:g.60713648G>C	ExAC,gnomAD
rs1203582766	p.Val703Ile	missense variant	-	NC_000014.9:g.60713646C>T	gnomAD
rs1451923246	p.His704Arg	missense variant	-	NC_000014.9:g.60713642T>C	gnomAD
COSM1678023	p.Asp706Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60713636T>C	NCI-TCGA Cosmic
rs1250772021	p.Gln709Ter	stop gained	-	NC_000014.9:g.60713628G>A	gnomAD
rs777611313	p.Glu710Gln	missense variant	-	NC_000014.9:g.60713625C>G	ExAC,gnomAD
rs978534509	p.His711Arg	missense variant	-	NC_000014.9:g.60713621T>C	gnomAD
rs978534509	p.His711Leu	missense variant	-	NC_000014.9:g.60713621T>A	gnomAD
rs756235258	p.Arg712Gly	missense variant	-	NC_000014.9:g.60713619G>C	TOPMed
rs112624131	p.Arg712His	missense variant	-	NC_000014.9:g.60713618C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756235258	p.Arg712Cys	missense variant	-	NC_000014.9:g.60713619G>A	TOPMed
rs752912449	p.Val714Leu	missense variant	-	NC_000014.9:g.60713613C>G	ExAC,TOPMed,gnomAD
rs1329557510	p.Leu715Pro	missense variant	-	NC_000014.9:g.60713609A>G	TOPMed,gnomAD
rs1289841550	p.Gln716Pro	missense variant	-	NC_000014.9:g.60713606T>G	TOPMed,gnomAD
rs147121728	p.Ser717Leu	missense variant	-	NC_000014.9:g.60713603G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147121728	p.Ser717Trp	missense variant	-	NC_000014.9:g.60713603G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767010402	p.Ala719Thr	missense variant	-	NC_000014.9:g.60713598C>T	ExAC,TOPMed,gnomAD
rs763616089	p.Ala719Val	missense variant	-	NC_000014.9:g.60713597G>A	ExAC
rs141843246	p.Asn720Ile	missense variant	-	NC_000014.9:g.60713594T>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Met721Ile	missense variant	-	NC_000014.9:g.60713590C>T	NCI-TCGA
rs1361457332	p.Glu723Asp	missense variant	-	NC_000014.9:g.60713584C>A	gnomAD
COSM3815024	p.Glu723Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60713586C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu723Lys	missense variant	-	NC_000014.9:g.60713586C>T	NCI-TCGA
NCI-TCGA novel	p.Phe725Leu	missense variant	-	NC_000014.9:g.60713578G>T	NCI-TCGA
NCI-TCGA novel	p.Phe725Val	missense variant	-	NC_000014.9:g.60713580A>C	NCI-TCGA
rs765741814	p.Ser727Pro	missense variant	-	NC_000014.9:g.60713574A>G	ExAC,TOPMed,gnomAD
rs765741814	p.Ser727Thr	missense variant	-	NC_000014.9:g.60713574A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser729Phe	missense variant	-	NC_000014.9:g.60713567G>A	NCI-TCGA
rs760322944	p.Ser731Arg	missense variant	-	NC_000014.9:g.60713560G>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser731Cys	missense variant	-	NC_000014.9:g.60713562T>A	NCI-TCGA
rs775034523	p.Thr734Ala	missense variant	-	NC_000014.9:g.60713553T>C	ExAC,TOPMed,gnomAD
rs1437635834	p.Ser735Gly	missense variant	-	NC_000014.9:g.60713550T>C	gnomAD
rs771541953	p.Ser736Gly	missense variant	-	NC_000014.9:g.60713547T>C	ExAC,gnomAD
rs1329620860	p.Leu740Pro	missense variant	-	NC_000014.9:g.60713534A>G	gnomAD
rs773908310	p.Ser742Cys	missense variant	-	NC_000014.9:g.60713528G>C	ExAC,gnomAD
rs749263224	p.Tyr746Ser	missense variant	-	NC_000014.9:g.60713516T>G	ExAC,gnomAD
rs749263224	p.Tyr746Cys	missense variant	-	NC_000014.9:g.60713516T>C	ExAC,gnomAD
rs777531269	p.Tyr746Ter	stop gained	-	NC_000014.9:g.60713515A>T	ExAC,gnomAD
rs769489219	p.Val747Ala	missense variant	-	NC_000014.9:g.60713513A>G	ExAC,gnomAD
rs201271144	p.Met751Ile	missense variant	-	NC_000014.9:g.60713500C>T	1000Genomes,ExAC,gnomAD
rs781298634	p.Val752Ile	missense variant	-	NC_000014.9:g.60713499C>T	ExAC,gnomAD
rs550629286	p.Asp753His	missense variant	-	NC_000014.9:g.60713496C>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Glu757Gly	missense variant	-	NC_000014.9:g.60713483T>C	NCI-TCGA
rs780317817	p.Asp758Ala	missense variant	-	NC_000014.9:g.60713480T>G	ExAC,gnomAD
rs61741142	p.Glu760Lys	missense variant	-	NC_000014.9:g.60713475C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1363466097	p.Lys763Gln	missense variant	-	NC_000014.9:g.60713466T>G	TOPMed,gnomAD
rs1393235880	p.Glu765Ala	missense variant	-	NC_000014.9:g.60713459T>G	gnomAD
NCI-TCGA novel	p.Glu765ArgPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.60713460_60713461insT	NCI-TCGA
COSM1477664	p.Ala767Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60713453G>A	NCI-TCGA Cosmic
rs1159318152	p.Lys768Asn	missense variant	-	NC_000014.9:g.60713449C>G	gnomAD
NCI-TCGA novel	p.Leu769His	missense variant	-	NC_000014.9:g.60713447A>T	NCI-TCGA
rs1165706420	p.Gln770His	missense variant	-	NC_000014.9:g.60713443C>A	gnomAD
rs765633573	p.Leu774Val	missense variant	-	NC_000014.9:g.60713433G>C	ExAC,gnomAD
rs1473257688	p.Asp775Asn	missense variant	-	NC_000014.9:g.60713430C>T	gnomAD
rs1044186320	p.Asp775Glu	missense variant	-	NC_000014.9:g.60713428A>C	TOPMed,gnomAD
rs752347132	p.Glu776Lys	missense variant	-	NC_000014.9:g.60713427C>T	ExAC,TOPMed,gnomAD
rs767056485	p.Asp777Asn	missense variant	-	NC_000014.9:g.60713424C>T	ExAC,gnomAD
rs759274813	p.Met778Lys	missense variant	-	NC_000014.9:g.60713420A>T	ExAC,gnomAD
rs773847226	p.Met778Ile	missense variant	-	NC_000014.9:g.60713419C>T	ExAC,TOPMed,gnomAD
rs759274813	p.Met778Thr	missense variant	-	NC_000014.9:g.60713420A>G	ExAC,gnomAD
NCI-TCGA novel	p.Met778Ile	missense variant	-	NC_000014.9:g.60713419C>A	NCI-TCGA
rs1265694770	p.Gln779Ter	stop gained	-	NC_000014.9:g.60713418G>A	gnomAD
rs1223227163	p.Gln779His	missense variant	-	NC_000014.9:g.60713416T>A	gnomAD
rs770486222	p.Asp780Gly	missense variant	-	NC_000014.9:g.60713414T>C	ExAC,gnomAD
rs1264571513	p.Asp780Glu	missense variant	-	NC_000014.9:g.60713413G>C	TOPMed
rs762818013	p.Ter782Arg	stop lost	-	NC_000014.9:g.60713409A>G	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0006142	Malignant neoplasm of breast	disease	UNIPROT

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000976	transcription regulatory region sequence-specific DNA binding	IBA
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0007519	skeletal muscle tissue development	ISS
GO:0008582	regulation of synaptic growth at neuromuscular junction	IEA
GO:0008584	male gonad development	ISS
GO:0009653	anatomical structure morphogenesis	TAS
GO:0030238	male sex determination	ISS
GO:0030910	olfactory placode formation	ISS
GO:0032880	regulation of protein localization	IEA
GO:0034504	protein localization to nucleus	ISS
GO:0042472	inner ear morphogenesis	IEA
GO:0043066	negative regulation of apoptotic process	ISS
GO:0043524	negative regulation of neuron apoptotic process	ISS
GO:0043586	tongue development	ISS
GO:0045214	sarcomere organization	ISS
GO:0045892	negative regulation of transcription, DNA-templated	ISS
GO:0045892	negative regulation of transcription, DNA-templated	IBA
GO:0045893	positive regulation of transcription, DNA-templated	ISS
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA
GO:0046661	male sex differentiation	ISS
GO:0048538	thymus development	IEA
GO:0048699	generation of neurons	ISS
GO:0048701	embryonic cranial skeleton morphogenesis	IEA
GO:0048856	anatomical structure development	IBA
GO:0050678	regulation of epithelial cell proliferation	ISS
GO:0051451	myoblast migration	IEA
GO:0060037	pharyngeal system development	ISS
GO:0061055	myotome development	ISS
GO:0061197	fungiform papilla morphogenesis	ISS
GO:0061551	trigeminal ganglion development	ISS
GO:0072075	metanephric mesenchyme development	ISS
GO:0072095	regulation of branch elongation involved in ureteric bud branching	ISS
GO:0072107	positive regulation of ureteric bud formation	ISS
GO:0090190	positive regulation of branching involved in ureteric bud morphogenesis	ISS
GO:0098528	skeletal muscle fiber differentiation	ISS
GO:1902725	negative regulation of satellite cell differentiation	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005634	nucleus	ISS
GO:0005634	nucleus	IBA
GO:0005667	transcription factor complex	IBA
GO:0005737	cytoplasm	ISS

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
D019813	1,2-Dimethylhydrazine	[APC protein affects the susceptibility to 1,2-Dimethylhydrazine] which results in decreased expression of SIX4 mRNA	27840820
C511295	2,2',4,4'-tetrabromodiphenyl ether	2,2',4,4'-tetrabromodiphenyl ether results in decreased expression of SIX4 mRNA	25614096
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	2,4,5,2',4',5'-hexachlorobiphenyl affects the expression of SIX4 mRNA	20638727
C496492	abrine	abrine results in increased expression of SIX4 mRNA	31054353
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of SIX4 mRNA	24449571
D001280	Atrazine	Atrazine results in decreased expression of SIX4 mRNA	29505797
C006780	bisphenol A	bisphenol A affects the methylation of SIX4 promoter	27334623
C006780	bisphenol A	bisphenol A results in decreased expression of SIX4 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased methylation of SIX4 gene	28505145
D002220	Carbamazepine	Carbamazepine affects the expression of SIX4 mRNA	25979313
D002737	Chloroprene	Chloroprene results in increased expression of SIX4 mRNA	23125180
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of SIX4 gene	20938992
C074702	chromium hexavalent ion	chromium hexavalent ion results in increased expression of SIX4 mRNA	30690063
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of SIX4 mRNA	27392435
D002994	Clofibrate	Clofibrate results in decreased expression of SIX4 mRNA	17585979
D004041	Dietary Fats	Dietary Fats results in increased expression of SIX4 mRNA	18042831
C014476	diethyl maleate	diethyl maleate results in increased expression of SIX4 mRNA	25270620
D004317	Doxorubicin	Doxorubicin results in decreased expression of SIX4 mRNA	29803840
D004791	Enzyme Inhibitors	[Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation of SIX4 protein	23301498
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in increased expression of SIX4 mRNA	22079256
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of SIX4 mRNA	23129252
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of SIX4 gene	20938992
D007545	Isoproterenol	Isoproterenol results in increased expression of SIX4 mRNA	20003209
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of SIX4 mRNA	27392435
C544151	jinfukang	jinfukang results in decreased expression of SIX4 mRNA	27392435
D000077339	Leflunomide	Leflunomide results in increased expression of SIX4 mRNA	28988120
D008694	Methamphetamine	[Methamphetamine co-treated with SCH 23390] results in decreased expression of SIX4 mRNA	19564919
D008694	Methamphetamine	Methamphetamine results in decreased expression of SIX4 mRNA	19564919
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of SIX4 gene	20938992
C000622638	MLN7243	MLN7243 results in increased sumoylation of SIX4 protein	31285264
D009151	Mustard Gas	Mustard Gas results in increased expression of SIX4 mRNA	15674843
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of SIX4 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of SIX4 mRNA	25554681
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in decreased expression of SIX4 mRNA	20188158
D000073878	Palm Oil	Palm Oil results in increased expression of SIX4 mRNA	18042831
D010634	Phenobarbital	Phenobarbital results in increased expression of SIX4 mRNA	25270620
D010936	Plant Extracts	Plant Extracts results in decreased expression of SIX4 mRNA	23557933
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in increased expression of SIX4 mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in increased expression of SIX4 mRNA	22079256; 22714537;
C534628	SCH 23390	[Methamphetamine co-treated with SCH 23390] results in decreased expression of SIX4 mRNA	19564919
C534628	SCH 23390	SCH 23390 results in decreased expression of SIX4 mRNA	19564919
C009277	sodium arsenate	sodium arsenate results in increased expression of SIX4 mRNA	21795629
C017947	sodium arsenite	sodium arsenite affects the methylation of SIX4 gene	28589171
D053260	Soot	Soot results in decreased expression of SIX4 mRNA	26551751
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of SIX4 mRNA	24058054
C009495	titanium dioxide	titanium dioxide results in decreased expression of SIX4 mRNA	29264374
C011559	tributyltin	tributyltin results in decreased expression of SIX4 mRNA	29505797
D014415	Tunicamycin	Tunicamycin results in decreased expression of SIX4 mRNA	29453283
D014520	Urethane	Urethane results in increased expression of SIX4 mRNA	28818685
D014635	Valproic Acid	Valproic Acid affects the expression of SIX4 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of SIX4 mRNA	23179753; 28001369;
C029297	vinylidene chloride	vinylidene chloride results in decreased expression of SIX4 mRNA	26682919
D024483	Vitamin K 3	SIX4 affects the susceptibility to Vitamin K 3	22715409

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0007	Acetylation
KW-0963	Cytoplasm
KW-0217	Developmental protein
KW-0238	DNA-binding
KW-0371	Homeobox
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation

Interpro

InterPro ID	InterPro Term
IPR009057	Homeobox-like_sf
IPR017970	Homeobox_CS
IPR001356	Homeobox_dom
IPR031701	SIX1_SD

PROSITE

PROSITE ID	PROSITE Term
PS00027	HOMEOBOX_1
PS50071	HOMEOBOX_2

Pfam

Pfam ID	Pfam Term
PF00046	Homeodomain
PF16878	SIX1_SD

Gene: SIX4

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