CleftGeneDB-Search

Gene: EYA1

Basic information

Tag	Content
Uniprot ID	Q99502; A6NHQ0; G5E9R4; Q0P516; Q8WX80;
Entrez ID	2138
Genbank protein ID	CAA03923.1; CAA03922.1; AAI21800.1; EAW86976.1; AAL73437.1; CAA71309.1;
Genbank nucleotide ID	NM_001288575.1; NM_172059.3; NM_172058.3; XM_017013212.1; XM_017013206.1; NM_172060.3; NM_000503.5; NM_001288574.1;
Ensembl protein ID	ENSP00000373392; ENSP00000373394; ENSP00000494438; ENSP00000342626; ENSP00000410176; ENSP00000496255;
Ensembl nucleotide ID	ENSG00000104313
Gene name	Eyes absent homolog 1
Gene symbol	EYA1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type	CPO,CL/P
Developmental stage
Data sources	Manually collected
Reference	23601008
Functional description	Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5 (By similarity). Tyrosine phosphatase that dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph) and promotes efficient DNA repair via the recruitment of DNA repair complexes containing MDC1. 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress (PubMed:19234442). Its function as histone phosphatase may contribute to its function in transcription regulation during organogenesis (By similarity). Has also phosphatase activity with proteins phosphorylated on Ser and Thr residues (in vitro) (By similarity). Required for normal embryonic development of the craniofacial and trunk skeleton, kidneys and ears (By similarity). Together with SIX1, it plays an important role in hypaxial muscle development; in this it is functionally redundant with EYA2 (By similarity).
Sequence	MEMQDLTSPH SRLSGSSESP SGPKLGNSHI NSNSMTPNGT EVKTEPMSSS ETASTTADGS 60 LNNFSGSAIG SSSFSPRPTH QFSPPQIYPS NRPYPHILPT PSSQTMAAYG QTQFTTGMQQ 120 ATAYATYPQP GQPYGISSYG ALWAGIKTEG GLSQSQSPGQ TGFLSYGTSF STPQPGQAPY 180 SYQMQGSSFT TSSGIYTGNN SLTNSSGFNS SQQDYPSYPS FGQGQYAQYY NSSPYPAHYM 240 TSSNTSPTTP STNATYQLQE PPSGITSQAV TDPTAEYSTI HSPSTPIKDS DSDRLRRGSD 300 GKSRGRGRRN NNPSPPPDSD LERVFIWDLD ETIIVFHSLL TGSYANRYGR DPPTSVSLGL 360 RMEEMIFNLA DTHLFFNDLE ECDQVHIDDV SSDDNGQDLS TYNFGTDGFP AAATSANLCL 420 ATGVRGGVDW MRKLAFRYRR VKEIYNTYKN NVGGLLGPAK REAWLQLRAE IEALTDSWLT 480 LALKALSLIH SRTNCVNILV TTTQLIPALA KVLLYGLGIV FPIENIYSAT KIGKESCFER 540 IIQRFGRKVV YVVIGDGVEE EQGAKKHAMP FWRISSHSDL MALHHALELE YL 592

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	Developmental stage	Species	Evidence	Details
1:1 ortholog	EYA1	477910	A0A5F4BXU4			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	EYA1	102178462	A0A452FKX1			Capra hircus	Prediction	More>>
1:1 ortholog	EYA1	2138	Q99502	CPO,CL/P		Homo sapiens	Publication	More>>
1:1 ortholog	Eya1	14048	P97767	CPO	E13.5, E14.5	Mus musculus	Publication	More>>
1:1 ortholog	EYA1	472789	A0A2J8M9N5			Pan troglodytes	Prediction	More>>
1:1 ortholog	Eya1		D3ZVI5			Rattus norvegicus	Prediction	More>>
1:1 ortholog	eya1	30436	E9QJ32			Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
EYA1	rs13260349C>T	Genotyping; TDT	23601008

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
COSM4397573	p.Glu2Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71354902C>T	NCI-TCGA Cosmic
rs767080375	p.Asp5Ala	missense variant	-	NC_000008.11:g.71354892T>G	ExAC
COSM3901394	p.Leu6Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71354889A>G	NCI-TCGA Cosmic
rs1393157586	p.Ser8Asn	missense variant	-	NC_000008.11:g.71354883C>T	TOPMed,gnomAD
RCV000762522	p.Pro9Leu	missense variant	-	NC_000008.11:g.71354880G>A	ClinVar
rs766713665	p.Pro9Leu	missense variant	-	NC_000008.11:g.71354880G>A	ExAC,TOPMed,gnomAD
rs766713665	p.Pro9Arg	missense variant	-	NC_000008.11:g.71354880G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His10Asn	missense variant	-	NC_000008.11:g.71354878G>T	NCI-TCGA
rs1052858465	p.His10Arg	missense variant	-	NC_000008.11:g.71354877T>C	TOPMed,gnomAD
rs1164012590	p.Ser11Asn	missense variant	-	NC_000008.11:g.71354874C>T	gnomAD
rs74720958	p.Arg12Pro	missense variant	-	NC_000008.11:g.71354871C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs530921368	p.Arg12Cys	missense variant	-	NC_000008.11:g.71354872G>A	TOPMed,gnomAD
rs74720958	p.Arg12His	missense variant	-	NC_000008.11:g.71354871C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776514587	p.Leu13Val	missense variant	-	NC_000008.11:g.71354869G>C	ExAC,gnomAD
rs768783796	p.Leu13Gln	missense variant	-	NC_000008.11:g.71354868A>T	ExAC,gnomAD
rs780483424	p.Ser17Asn	missense variant	-	NC_000008.11:g.71354856C>T	ExAC,gnomAD
rs747231434	p.Ser17Gly	missense variant	-	NC_000008.11:g.71354857T>C	ExAC,TOPMed,gnomAD
COSM3925560	p.Glu18Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71354854C>T	NCI-TCGA Cosmic
RCV000711621	p.Pro20Ala	missense variant	-	NC_000008.11:g.71354848G>C	ClinVar
rs1445404	p.Pro20Ala	missense variant	-	NC_000008.11:g.71354848G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1445404	p.Pro20Ala	missense variant	-	NC_000008.11:g.71354848G>C	UniProt,dbSNP
VAR_024439	p.Pro20Ala	missense variant	-	NC_000008.11:g.71354848G>C	UniProt
rs1445404	p.Pro20Thr	missense variant	-	NC_000008.11:g.71354848G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000310360	p.Pro20Ala	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71354848G>C	ClinVar
RCV000041394	p.Pro20Ala	missense variant	-	NC_000008.11:g.71354848G>C	ClinVar
RCV000406094	p.Pro20Ala	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71354848G>C	ClinVar
rs727503049	p.Gly22Asp	missense variant	-	NC_000008.11:g.71354841C>T	ExAC,TOPMed,gnomAD
RCV000150678	p.Gly22Asp	missense variant	-	NC_000008.11:g.71354841C>T	ClinVar
rs752696368	p.Leu25Ile	missense variant	-	NC_000008.11:g.71354833G>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly26Asp	missense variant	-	NC_000008.11:g.71354829C>T	NCI-TCGA
rs199664417	p.Gly26Ser	missense variant	-	NC_000008.11:g.71354830C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs199664417	p.Gly26Cys	missense variant	-	NC_000008.11:g.71354830C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs751187504	p.Asn27Thr	missense variant	-	NC_000008.11:g.71354826T>G	ExAC,gnomAD
rs558089479	p.Ser28Cys	missense variant	-	NC_000008.11:g.71354823G>C	ExAC,gnomAD
RCV000607103	p.Ile30Val	missense variant	-	NC_000008.11:g.71354818T>C	ClinVar
rs1554565600	p.Ile30Val	missense variant	-	NC_000008.11:g.71354818T>C	-
rs1486534014	p.Ile30Met	missense variant	-	NC_000008.11:g.71354816T>C	gnomAD
NCI-TCGA novel	p.Ser34Phe	missense variant	-	NC_000008.11:g.71354805G>A	NCI-TCGA
rs727503048	p.Thr36Ile	missense variant	-	NC_000008.11:g.71354799G>A	ExAC,TOPMed,gnomAD
RCV000150677	p.Thr36Ile	missense variant	-	NC_000008.11:g.71354799G>A	ClinVar
NCI-TCGA novel	p.Pro37Leu	missense variant	-	NC_000008.11:g.71354796G>A	NCI-TCGA
rs750274491	p.Asn38Ile	missense variant	-	NC_000008.11:g.71354793T>A	ExAC,TOPMed,gnomAD
rs750274491	p.Asn38Ser	missense variant	-	NC_000008.11:g.71354793T>C	ExAC,TOPMed,gnomAD
rs765646278	p.Asn38Asp	missense variant	-	NC_000008.11:g.71354794T>C	ExAC,TOPMed,gnomAD
rs267601985	p.Gly39Asp	missense variant	-	NC_000008.11:g.71354790C>T	-
rs1196497532	p.Thr40Ala	missense variant	-	NC_000008.11:g.71354788T>C	TOPMed,gnomAD
rs561111097	p.Glu41Gln	missense variant	-	NC_000008.11:g.71354785C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs561111097	p.Glu41Lys	missense variant	-	NC_000008.11:g.71354785C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs561111097	p.Glu41Lys	missense variant	-	NC_000008.11:g.71354785C>T	UniProt,dbSNP
VAR_070033	p.Glu41Lys	missense variant	-	NC_000008.11:g.71354785C>T	UniProt
RCV000234887	p.Glu41Gln	missense variant	Renal hypoplasia	NC_000008.11:g.71354785C>G	ClinVar
rs774402195	p.Thr44Ile	missense variant	-	NC_000008.11:g.71334168G>A	ExAC,TOPMed,gnomAD
rs1373021054	p.Glu45Lys	missense variant	-	NC_000008.11:g.71334166C>T	gnomAD
rs1323652552	p.Met47Thr	missense variant	-	NC_000008.11:g.71334159A>G	gnomAD
rs958156575	p.Ser49Asn	missense variant	-	NC_000008.11:g.71334153C>T	TOPMed
COSM6113966	p.Ser50Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71334151T>A	NCI-TCGA Cosmic
rs200206302	p.Thr52Ile	missense variant	-	NC_000008.11:g.71334144G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ala53Thr	missense variant	-	NC_000008.11:g.71334142C>T	NCI-TCGA
rs776352141	p.Ala53Val	missense variant	-	NC_000008.11:g.71334141G>A	ExAC,gnomAD
RCV000416584	p.Thr55Met	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71334135G>A	ClinVar
rs139194909	p.Thr55Ala	missense variant	-	NC_000008.11:g.71334136T>C	ESP,ExAC,TOPMed,gnomAD
rs201434219	p.Thr55Met	missense variant	-	NC_000008.11:g.71334135G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1248918883	p.Thr56Ala	missense variant	-	NC_000008.11:g.71334133T>C	gnomAD
rs1199697219	p.Thr56Ile	missense variant	-	NC_000008.11:g.71334132G>A	gnomAD
rs370509332	p.Asp58Glu	missense variant	-	NC_000008.11:g.71334125G>T	ESP,ExAC,TOPMed,gnomAD
rs756885537	p.Asp58Asn	missense variant	-	NC_000008.11:g.71334127C>T	ExAC,TOPMed,gnomAD
rs146216506	p.Gly59Arg	missense variant	-	NC_000008.11:g.71334124C>T	ESP,ExAC,TOPMed,gnomAD
COSM3650743	p.Gly59Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71334123C>T	NCI-TCGA Cosmic
COSM3901392	p.Phe64Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71334107G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser65Ter	stop gained	-	NC_000008.11:g.71334105G>C	NCI-TCGA
rs1389200174	p.Ser65Leu	missense variant	-	NC_000008.11:g.71334105G>A	TOPMed
RCV000342060	p.Gly66Cys	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71334103C>A	ClinVar
rs886063089	p.Gly66Cys	missense variant	-	NC_000008.11:g.71334103C>A	TOPMed,gnomAD
rs149289196	p.Gly66Val	missense variant	-	NC_000008.11:g.71334102C>A	ESP,ExAC,TOPMed,gnomAD
RCV000303649	p.Gly66Cys	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71334103C>A	ClinVar
NCI-TCGA novel	p.Ala68Gly	missense variant	-	NC_000008.11:g.71322268G>C	NCI-TCGA
rs1169615269	p.Ala68Pro	missense variant	-	NC_000008.11:g.71334097C>G	TOPMed
rs1169615269	p.Ala68Ser	missense variant	-	NC_000008.11:g.71334097C>A	TOPMed
rs1032162749	p.Ile69Val	missense variant	-	NC_000008.11:g.71322266T>C	gnomAD
rs371059560	p.Ile69Thr	missense variant	-	NC_000008.11:g.71322265A>G	ESP,ExAC,TOPMed,gnomAD
rs1032162749	p.Ile69Leu	missense variant	-	NC_000008.11:g.71322266T>G	gnomAD
rs1462564075	p.Ser71Asn	missense variant	-	NC_000008.11:g.71322259C>T	TOPMed
rs1275882788	p.Ser72Gly	missense variant	-	NC_000008.11:g.71322257T>C	gnomAD
rs1201735320	p.Ser73Arg	missense variant	-	NC_000008.11:g.71322254T>G	TOPMed
rs1429110987	p.Ser73Asn	missense variant	-	NC_000008.11:g.71322253C>T	TOPMed,gnomAD
COSM3925558	p.Pro76Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71322244G>A	NCI-TCGA Cosmic
rs770356158	p.Arg77Gln	missense variant	-	NC_000008.11:g.71322241C>T	ExAC,gnomAD
rs200164773	p.Arg77Ter	stop gained	-	NC_000008.11:g.71322242G>A	TOPMed,gnomAD
RCV000544733	p.Arg77Ter	nonsense	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71322242G>A	ClinVar
rs1414412230	p.Pro78Arg	missense variant	-	NC_000008.11:g.71322238G>C	gnomAD
RCV000522348	p.Thr79Ala	missense variant	-	NC_000008.11:g.71322236T>C	ClinVar
rs1554550645	p.Thr79Ala	missense variant	-	NC_000008.11:g.71322236T>C	-
RCV000600507	p.Gln81Ter	nonsense	Rare genetic deafness	NC_000008.11:g.71322230G>A	ClinVar
rs1554550637	p.Gln81Ter	stop gained	-	NC_000008.11:g.71322230G>A	-
rs777629266	p.Phe82Tyr	missense variant	-	NC_000008.11:g.71322226A>T	ExAC,gnomAD
rs777629266	p.Phe82Ser	missense variant	-	NC_000008.11:g.71322226A>G	ExAC,gnomAD
rs748482012	p.Ser83Cys	missense variant	-	NC_000008.11:g.71322223G>C	ExAC,TOPMed,gnomAD
rs1191745624	p.Ser83Pro	missense variant	-	NC_000008.11:g.71322224A>G	gnomAD
rs748482012	p.Ser83Phe	missense variant	-	NC_000008.11:g.71322223G>A	ExAC,TOPMed,gnomAD
rs1237828849	p.Pro85Ser	missense variant	-	NC_000008.11:g.71322218G>A	TOPMed,gnomAD
rs781429176	p.Gln86Arg	missense variant	-	NC_000008.11:g.71322214T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile87AsnPheSerTerUnk	stop gained	-	NC_000008.11:g.71322211_71322212insTCTGTGGTGGAGACACTGAAGTATTTCAGTGCTTTGTCAAT	NCI-TCGA
NCI-TCGA novel	p.Ile87Val	missense variant	-	NC_000008.11:g.71322212T>C	NCI-TCGA
rs755452077	p.Ile87Thr	missense variant	-	NC_000008.11:g.71322211A>G	ExAC,gnomAD
rs534707284	p.Tyr88His	missense variant	-	NC_000008.11:g.71322209A>G	1000Genomes,ExAC,gnomAD
rs368351103	p.Pro89Leu	missense variant	-	NC_000008.11:g.71322205G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1255833754	p.Pro89Ser	missense variant	-	NC_000008.11:g.71322206G>A	gnomAD
rs1379371014	p.Ser90Phe	missense variant	-	NC_000008.11:g.71322202G>A	gnomAD
rs750621028	p.Asn91Asp	missense variant	-	NC_000008.11:g.71322200T>C	ExAC,gnomAD
rs1438639316	p.ProTyr93ProCysTerTyr	stop gained	-	NC_000008.11:g.71321873_71321874insTAACAT	gnomAD
NCI-TCGA novel	p.Tyr94Glu	insertion	-	NC_000008.11:g.71321869_71321870insTTC	NCI-TCGA
rs759310166	p.Pro95Leu	missense variant	-	NC_000008.11:g.71321868G>A	ExAC,gnomAD
rs759310166	p.Pro95Gln	missense variant	-	NC_000008.11:g.71321868G>T	ExAC,gnomAD
VAR_064942	p.Pro95Ser	Missense	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]	-	UniProt
rs377434964	p.His96Arg	missense variant	-	NC_000008.11:g.71321865T>C	ESP,ExAC,gnomAD
rs1422583050	p.Ile97Val	missense variant	-	NC_000008.11:g.71321863T>C	TOPMed,gnomAD
rs766184209	p.Leu98Phe	missense variant	-	NC_000008.11:g.71321860G>A	ExAC,TOPMed,gnomAD
rs763005068	p.Pro99Arg	missense variant	-	NC_000008.11:g.71321856G>C	ExAC,gnomAD
rs763005068	p.Pro99Leu	missense variant	-	NC_000008.11:g.71321856G>A	ExAC,gnomAD
COSM3650741	p.Pro99Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71321857G>A	NCI-TCGA Cosmic
RCV000156019	p.Thr100Asn	missense variant	-	NC_000008.11:g.71321853G>T	ClinVar
RCV000371539	p.Thr100Asn	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71321853G>T	ClinVar
RCV000281370	p.Thr100Asn	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71321853G>T	ClinVar
rs373501480	p.Thr100Asn	missense variant	-	NC_000008.11:g.71321853G>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro101Leu	missense variant	-	NC_000008.11:g.71321850G>A	NCI-TCGA
rs138603867	p.Pro101Ala	missense variant	-	NC_000008.11:g.71321851G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser102Phe	missense variant	-	NC_000008.11:g.71321847G>A	NCI-TCGA
rs1488509440	p.Ser103Ala	missense variant	-	NC_000008.11:g.71321845A>C	gnomAD
COSM116298	p.Thr105Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71321838G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala107GlyPheSerTerUnkUnkUnk	frameshift	-	NC_000008.11:g.71321823_71321832CCATATGCAG>-	NCI-TCGA
rs1413761721	p.Ala107Thr	missense variant	-	NC_000008.11:g.71321833C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ala108Thr	missense variant	-	NC_000008.11:g.71321830C>T	NCI-TCGA
rs1489979978	p.Tyr109Cys	missense variant	-	NC_000008.11:g.71321826T>C	gnomAD
rs141779040	p.Tyr109His	missense variant	-	NC_000008.11:g.71321827A>G	ESP,ExAC,TOPMed,gnomAD
RCV000729909	p.Tyr109His	missense variant	-	NC_000008.11:g.71321827A>G	ClinVar
RCV000335524	p.Tyr109His	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71321827A>G	ClinVar
RCV000294529	p.Tyr109His	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71321827A>G	ClinVar
NCI-TCGA novel	p.Gly110Val	missense variant	-	NC_000008.11:g.71321823C>A	NCI-TCGA
rs769041202	p.Gly110Glu	missense variant	-	NC_000008.11:g.71321823C>T	ExAC,gnomAD
rs184596522	p.Gln113Arg	missense variant	-	NC_000008.11:g.71321814T>C	1000Genomes
rs747371845	p.Gln113Lys	missense variant	-	NC_000008.11:g.71321815G>T	ExAC,gnomAD
rs746388153	p.Phe114Tyr	missense variant	-	NC_000008.11:g.71321811A>T	ExAC,gnomAD
rs772521196	p.Phe114Leu	missense variant	-	NC_000008.11:g.71321812A>G	ExAC,TOPMed,gnomAD
rs1368387497	p.Thr115Asn	missense variant	-	NC_000008.11:g.71321808G>T	gnomAD
rs1368387497	p.Thr115Ile	missense variant	-	NC_000008.11:g.71321808G>A	gnomAD
NCI-TCGA novel	p.Gly117Ter	missense variant	-	NC_000008.11:g.71321803C>A	NCI-TCGA
rs1293217360	p.Gly117Glu	missense variant	-	NC_000008.11:g.71321802C>T	gnomAD
rs1362617814	p.Met118Ile	missense variant	-	NC_000008.11:g.71321798C>T	TOPMed,gnomAD
rs1362617814	p.Met118Ile	missense variant	-	NC_000008.11:g.71321798C>A	TOPMed,gnomAD
rs778898100	p.Met118Val	missense variant	-	NC_000008.11:g.71321800T>C	ExAC,TOPMed,gnomAD
rs778898100	p.Met118Leu	missense variant	-	NC_000008.11:g.71321800T>A	ExAC,TOPMed,gnomAD
COSM4930085	p.Gln119Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71321796T>C	NCI-TCGA Cosmic
rs757399419	p.Ala121Thr	missense variant	-	NC_000008.11:g.71321791C>T	ExAC,gnomAD
rs757399419	p.Ala121Pro	missense variant	-	NC_000008.11:g.71321791C>G	ExAC,gnomAD
rs754082186	p.Ala121Asp	missense variant	-	NC_000008.11:g.71321790G>T	ExAC,gnomAD
rs971427687	p.Thr122Arg	missense variant	-	NC_000008.11:g.71321787G>C	gnomAD
rs375521116	p.Thr126Lys	missense variant	-	NC_000008.11:g.71321775G>T	ESP,ExAC,TOPMed,gnomAD
rs375521116	p.Thr126Met	missense variant	-	NC_000008.11:g.71321775G>A	ESP,ExAC,TOPMed,gnomAD
rs1478602440	p.Pro128Leu	missense variant	-	NC_000008.11:g.71321769G>A	gnomAD
rs1315972086	p.Gln129His	missense variant	-	NC_000008.11:g.71321765C>G	TOPMed
RCV000215585	p.Gln132Ter	frameshift	Rare genetic deafness	NC_000008.11:g.71321748_71321758del	ClinVar
rs138234228	p.Pro133Leu	missense variant	-	NC_000008.11:g.71321754G>A	ESP,TOPMed,gnomAD
RCV000825655	p.Gly135Ser	missense variant	-	NC_000008.11:g.71321749C>T	ClinVar
rs776314304	p.Gly135Asp	missense variant	-	NC_000008.11:g.71321748C>T	ExAC,gnomAD
rs747476629	p.Gly135Ser	missense variant	-	NC_000008.11:g.71321749C>T	ExAC,TOPMed,gnomAD
RCV000490264	p.Gly135Ser	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71321749C>T	ClinVar
COSM3925556	p.Ser137Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71321742G>A	NCI-TCGA Cosmic
rs1245501738	p.Ser138Leu	missense variant	-	NC_000008.11:g.71321739G>A	TOPMed
rs763614581	p.Tyr139His	missense variant	-	NC_000008.11:g.71321737A>G	ExAC,TOPMed,gnomAD
rs763614581	p.Tyr139Asn	missense variant	-	NC_000008.11:g.71321737A>T	ExAC,TOPMed,gnomAD
RCV000850159	p.Tyr139His	missense variant	Branchiootic syndrome (BOS1)	NC_000008.11:g.71321737A>G	ClinVar
VAR_064943	p.Gly140Ser	Missense	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]	-	UniProt
rs749811991	p.Leu142Phe	missense variant	-	NC_000008.11:g.71317682C>G	ExAC,TOPMed,gnomAD
rs727504494	p.Trp143Ter	stop gained	-	NC_000008.11:g.71317680C>T	ExAC,gnomAD
rs727504494	p.Trp143Leu	missense variant	-	NC_000008.11:g.71317680C>A	ExAC,gnomAD
rs773097343	p.Trp143Arg	missense variant	-	NC_000008.11:g.71317681A>G	ExAC,gnomAD
RCV000155629	p.Trp143Ter	nonsense	Rare genetic deafness	NC_000008.11:g.71317680C>T	ClinVar
rs1460464467	p.Ala144Thr	missense variant	-	NC_000008.11:g.71317678C>T	TOPMed
rs1182285380	p.Gly145Asp	missense variant	-	NC_000008.11:g.71317674C>T	gnomAD
NCI-TCGA novel	p.Ile146Asn	missense variant	-	NC_000008.11:g.71317671A>T	NCI-TCGA
rs202188500	p.Ile146Val	missense variant	-	NC_000008.11:g.71317672T>C	ExAC,TOPMed,gnomAD
rs13255076	p.Ser155Ala	missense variant	-	NC_000008.11:g.71317645A>C	ExAC,gnomAD
rs13255076	p.Ser155Thr	missense variant	-	NC_000008.11:g.71317645A>T	ExAC,gnomAD
rs778872780	p.Ser157Thr	missense variant	-	NC_000008.11:g.71317639A>T	ExAC,gnomAD
rs764732053	p.Pro158Leu	missense variant	-	NC_000008.11:g.71317635G>A	ExAC,gnomAD
rs142344434	p.Pro158Ser	missense variant	-	NC_000008.11:g.71317636G>A	ESP,ExAC,TOPMed,gnomAD
rs764732053	p.Pro158His	missense variant	-	NC_000008.11:g.71317635G>T	ExAC,gnomAD
rs763509251	p.Gln160Glu	missense variant	-	NC_000008.11:g.71317630G>C	ExAC,gnomAD
rs1411069397	p.Gly162Glu	missense variant	-	NC_000008.11:g.71317623C>T	gnomAD
rs1007684729	p.Leu164Pro	missense variant	-	NC_000008.11:g.71317617A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Leu164Phe	missense variant	-	NC_000008.11:g.71317618G>A	NCI-TCGA
RCV000609247	p.Leu164Pro	missense variant	-	NC_000008.11:g.71317617A>G	ClinVar
RCV000512945	p.Leu164Pro	missense variant	-	NC_000008.11:g.71317617A>G	ClinVar
rs1377460458	p.Ser165Ile	missense variant	-	NC_000008.11:g.71317614C>A	gnomAD
rs138353102	p.Tyr166Cys	missense variant	-	NC_000008.11:g.71317611T>C	ESP,ExAC,TOPMed,gnomAD
rs147066127	p.Phe170Ser	missense variant	-	NC_000008.11:g.71317599A>G	ESP,ExAC,TOPMed,gnomAD
rs759221073	p.Ser171Asn	missense variant	-	NC_000008.11:g.71317596C>T	ExAC,gnomAD
rs751860428	p.Thr172Ile	missense variant	-	NC_000008.11:g.71317593G>A	ExAC,gnomAD
rs766767570	p.Pro173Leu	missense variant	-	NC_000008.11:g.71317590G>A	ExAC,gnomAD
rs201908026	p.Pro175Arg	missense variant	-	NC_000008.11:g.71317584G>C	1000Genomes,gnomAD
COSM3901386	p.Pro175His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71317584G>T	NCI-TCGA Cosmic
rs1385538076	p.Gln177His	missense variant	-	NC_000008.11:g.71317577C>A	TOPMed
RCV000634147	p.Ala178Ter	frameshift	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71317577del	ClinVar
rs868367252	p.Ala178Val	missense variant	-	NC_000008.11:g.71317575G>A	gnomAD
rs1262764388	p.Pro179Leu	missense variant	-	NC_000008.11:g.71317572G>A	TOPMed
rs368131485	p.Pro179Ser	missense variant	-	NC_000008.11:g.71317573G>A	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr180Cys	missense variant	-	NC_000008.11:g.71317569T>C	NCI-TCGA
rs1022352668	p.Ser181Gly	missense variant	-	NC_000008.11:g.71317567T>C	TOPMed
rs200063586	p.Tyr182His	missense variant	-	NC_000008.11:g.71317564A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs761991031	p.Tyr182Phe	missense variant	-	NC_000008.11:g.71317563T>A	ExAC,gnomAD
rs1289325016	p.Gln183Ter	stop gained	-	NC_000008.11:g.71317561G>A	gnomAD
rs794727845	p.Gln183Arg	missense variant	-	NC_000008.11:g.71317560T>C	gnomAD
RCV000179762	p.Gln183Arg	missense variant	-	NC_000008.11:g.71317560T>C	ClinVar
rs1241997853	p.Met184Thr	missense variant	-	NC_000008.11:g.71317557A>G	gnomAD
COSM3901384	p.Thr190Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71299709T>C	NCI-TCGA Cosmic
rs1418597577	p.Thr191Pro	missense variant	-	NC_000008.11:g.71299706T>G	TOPMed
COSM1101457	p.Ser192Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71299703A>G	NCI-TCGA Cosmic
rs377222777	p.Ser193Leu	missense variant	-	NC_000008.11:g.71299699G>A	ESP,TOPMed
COSM230154	p.Gly194Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71299697C>T	NCI-TCGA Cosmic
COSM3650733	p.Gly194Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71299696C>T	NCI-TCGA Cosmic
rs780672889	p.Ile195Met	missense variant	-	NC_000008.11:g.71299692T>C	ExAC,TOPMed,gnomAD
rs1173256027	p.Thr197Ile	missense variant	-	NC_000008.11:g.71299687G>A	gnomAD
NCI-TCGA novel	p.Gly198GluPheSerTerUnkUnk	frameshift	-	NC_000008.11:g.71299684C>-	NCI-TCGA
rs1320967168	p.Asn200Lys	missense variant	-	NC_000008.11:g.71299677A>T	gnomAD
RCV000733277	p.Ser201Ter	nonsense	-	NC_000008.11:g.71299675G>C	ClinVar
rs751187579	p.Ser201Ala	missense variant	-	NC_000008.11:g.71299676A>C	ExAC,gnomAD
RCV000627570	p.Leu202Ter	frameshift	-	NC_000008.11:g.71299672del	ClinVar
rs1196110281	p.Leu202Phe	missense variant	-	NC_000008.11:g.71299673G>A	gnomAD
NCI-TCGA novel	p.Thr203Lys	missense variant	-	NC_000008.11:g.71299669G>T	NCI-TCGA
rs758016427	p.Thr203Ala	missense variant	-	NC_000008.11:g.71299670T>C	ExAC,gnomAD
rs1057241340	p.Thr203Ile	missense variant	-	NC_000008.11:g.71299669G>A	gnomAD
COSM3650731	p.Ser205Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71299663G>A	NCI-TCGA Cosmic
rs1444096031	p.Ser206Phe	missense variant	-	NC_000008.11:g.71299660G>A	TOPMed,gnomAD
COSM454818	p.Asn209Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71299651T>C	NCI-TCGA Cosmic
rs1202544664	p.Ser210Ile	missense variant	-	NC_000008.11:g.71299648C>A	gnomAD
rs757772659	p.Ser211Leu	missense variant	-	NC_000008.11:g.71299645G>A	ExAC,gnomAD
COSM1553269	p.Gln213Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.71299640G>A	NCI-TCGA Cosmic
RCV000681904	p.Asp214Asn	missense variant	-	NC_000008.11:g.71299233C>T	ClinVar
rs200923204	p.Pro216Arg	missense variant	-	NC_000008.11:g.71299226G>C	ExAC,TOPMed,gnomAD
rs200923204	p.Pro216Leu	missense variant	-	NC_000008.11:g.71299226G>A	ExAC,TOPMed,gnomAD
COSM3650729	p.Pro216Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71299227G>A	NCI-TCGA Cosmic
rs1162614873	p.Ser217Phe	missense variant	-	NC_000008.11:g.71299223G>A	gnomAD
rs756722124	p.Pro219Leu	missense variant	-	NC_000008.11:g.71299217G>A	ExAC,gnomAD
COSM6113968	p.Pro219Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71299218G>T	NCI-TCGA Cosmic
rs1382039361	p.Gln223Arg	missense variant	-	NC_000008.11:g.71299205T>C	gnomAD
rs201509408	p.Gly224Val	missense variant	-	NC_000008.11:g.71299202C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs201509408	p.Gly224Asp	missense variant	-	NC_000008.11:g.71299202C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000490441	p.Gly224Val	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71299202C>A	ClinVar
COSM3925552	p.Gln225Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71299200G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Tyr226Cys	missense variant	-	NC_000008.11:g.71299196T>C	NCI-TCGA
rs202168841	p.Ala227Thr	missense variant	-	NC_000008.11:g.71299194C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs202168841	p.Ala227Pro	missense variant	-	NC_000008.11:g.71299194C>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000687593	p.Gln228Ter	nonsense	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71299191G>A	ClinVar
COSM6181608	p.Tyr229Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71299188A>T	NCI-TCGA Cosmic
rs1213738374	p.Tyr230Cys	missense variant	-	NC_000008.11:g.71299184T>C	TOPMed
rs1485766576	p.Ser233Leu	missense variant	-	NC_000008.11:g.71299175G>A	TOPMed
rs761632944	p.Pro234Leu	missense variant	-	NC_000008.11:g.71299172G>A	ExAC,TOPMed,gnomAD
rs969843445	p.Tyr235Phe	missense variant	-	NC_000008.11:g.71299169T>A	TOPMed
rs1344244290	p.His238Arg	missense variant	-	NC_000008.11:g.71299160T>C	gnomAD
rs746932579	p.Tyr239Phe	missense variant	-	NC_000008.11:g.71299157T>A	ExAC,gnomAD
rs746932579	p.Tyr239Cys	missense variant	-	NC_000008.11:g.71299157T>C	ExAC,gnomAD
rs771549701	p.Met240Val	missense variant	-	NC_000008.11:g.71299155T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser242Cys	missense variant	-	NC_000008.11:g.71299149T>A	NCI-TCGA
rs191838840	p.Ser242Gly	missense variant	-	NC_000008.11:g.71299149T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs374722758	p.Ser243Ile	missense variant	-	NC_000008.11:g.71299145C>A	ESP,ExAC,gnomAD
rs1278065086	p.Asn244Asp	missense variant	-	NC_000008.11:g.71299143T>C	TOPMed,gnomAD
rs1302329264	p.Ser246Thr	missense variant	-	NC_000008.11:g.71299136C>G	gnomAD
COSM3925550	p.Pro247Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71299134G>T	NCI-TCGA Cosmic
RCV000264927	p.Thr248Met	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71299130G>A	ClinVar
rs1296125164	p.Thr248Ala	missense variant	-	NC_000008.11:g.71299131T>C	TOPMed,gnomAD
rs186736708	p.Thr248Met	missense variant	-	NC_000008.11:g.71299130G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000359341	p.Thr248Met	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71299130G>A	ClinVar
rs376238434	p.Thr252Ile	missense variant	-	NC_000008.11:g.71299118G>A	ESP,ExAC,TOPMed,gnomAD
rs1418060801	p.Thr252Pro	missense variant	-	NC_000008.11:g.71299119T>G	gnomAD
rs960785529	p.Asn253Ile	missense variant	-	NC_000008.11:g.71299115T>A	TOPMed,gnomAD
rs960785529	p.Asn253Ser	missense variant	-	NC_000008.11:g.71299115T>C	TOPMed,gnomAD
RCV000520903	p.Asn253Ser	missense variant	-	NC_000008.11:g.71299115T>C	ClinVar
rs1281786069	p.Ala254Asp	missense variant	-	NC_000008.11:g.71299112G>T	TOPMed
rs149833469	p.Gln257His	missense variant	-	NC_000008.11:g.71299102C>G	ESP,ExAC,TOPMed,gnomAD
COSM3925547	p.Gln259Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71299098G>C	NCI-TCGA Cosmic
rs751772774	p.Glu260Val	missense variant	-	NC_000008.11:g.71299094T>A	ExAC,gnomAD
rs766545848	p.Pro261Thr	missense variant	-	NC_000008.11:g.71299092G>T	ExAC,gnomAD
rs77825059	p.Pro261Gln	missense variant	-	NC_000008.11:g.71299091G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs77825059	p.Pro261Leu	missense variant	-	NC_000008.11:g.71299091G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3779337	p.Pro261Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71299092G>C	NCI-TCGA Cosmic
RCV000607831	p.Pro261Leu	missense variant	-	NC_000008.11:g.71299091G>A	ClinVar
COSM3901380	p.Pro262Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71299089G>A	NCI-TCGA Cosmic
rs775347972	p.Gly264Val	missense variant	-	NC_000008.11:g.71299082C>A	ExAC,gnomAD
COSM1101456	p.Ile265Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71299079A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr266Asn	missense variant	-	NC_000008.11:g.71299076G>T	NCI-TCGA
rs1346438963	p.Ser267Arg	missense variant	-	NC_000008.11:g.71299072G>C	gnomAD
rs771589229	p.Ser267Gly	missense variant	-	NC_000008.11:g.71299074T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gln268Lys	missense variant	-	NC_000008.11:g.71299071G>T	NCI-TCGA
rs368165352	p.Ala269Glu	missense variant	-	NC_000008.11:g.71299067G>T	ESP,ExAC,TOPMed,gnomAD
rs1342127067	p.Val270Ala	missense variant	-	NC_000008.11:g.71299064A>G	TOPMed,gnomAD
rs774032992	p.Thr271Ile	missense variant	-	NC_000008.11:g.71299061G>A	ExAC,gnomAD
rs748966524	p.Asp272Gly	missense variant	-	NC_000008.11:g.71299058T>C	ExAC,gnomAD
rs1343323235	p.Asp272Tyr	missense variant	-	NC_000008.11:g.71299059C>A	gnomAD
rs1441640157	p.Asp272Glu	missense variant	-	NC_000008.11:g.71299057A>C	TOPMed
rs778220979	p.Pro273Ser	missense variant	-	NC_000008.11:g.71299056G>A	ExAC
rs900664550	p.Thr274Lys	missense variant	-	NC_000008.11:g.71299052G>T	TOPMed
rs374772533	p.Tyr277Cys	missense variant	-	NC_000008.11:g.71271894T>C	ESP,TOPMed,gnomAD
rs1185950054	p.Ser278Arg	missense variant	-	NC_000008.11:g.71271890G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Thr279Lys	missense variant	-	NC_000008.11:g.71271888G>T	NCI-TCGA
rs1468448384	p.Ser282Ile	missense variant	-	NC_000008.11:g.71271879C>A	TOPMed
rs979855303	p.Pro283Leu	missense variant	-	NC_000008.11:g.71271876G>A	TOPMed,gnomAD
COSM364789	p.Ser284Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.71271873G>T	NCI-TCGA Cosmic
rs781635264	p.Thr285Ser	missense variant	-	NC_000008.11:g.71271871T>A	ExAC,gnomAD
rs781635264	p.Thr285Ala	missense variant	-	NC_000008.11:g.71271871T>C	ExAC,gnomAD
rs374615482	p.Pro286Leu	missense variant	-	NC_000008.11:g.71271867G>A	ESP,ExAC,TOPMed,gnomAD
rs1252089449	p.Pro286Ser	missense variant	-	NC_000008.11:g.71271868G>A	gnomAD
rs747518329	p.Ile287Phe	missense variant	-	NC_000008.11:g.71271865T>A	ExAC
rs1305551163	p.Ile287Thr	missense variant	-	NC_000008.11:g.71271864A>G	gnomAD
rs1314840587	p.Lys288Thr	missense variant	-	NC_000008.11:g.71271861T>G	gnomAD
rs1246643625	p.Lys288Asn	missense variant	-	NC_000008.11:g.71271860T>G	gnomAD
COSM3650725	p.Lys288Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71271861T>C	NCI-TCGA Cosmic
rs1029683507	p.Asp289Val	missense variant	-	NC_000008.11:g.71271858T>A	TOPMed
rs201504674	p.Asp289Tyr	missense variant	-	NC_000008.11:g.71271859C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000595354	p.Asp289Tyr	missense variant	-	NC_000008.11:g.71271859C>A	ClinVar
COSM4859249	p.Asp289His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71271859C>G	NCI-TCGA Cosmic
rs779045401	p.Asp291Asn	missense variant	-	NC_000008.11:g.71271853C>T	ExAC,gnomAD
rs779045401	p.Asp291His	missense variant	-	NC_000008.11:g.71271853C>G	ExAC,gnomAD
rs1405459798	p.Asp291Gly	missense variant	-	NC_000008.11:g.71271852T>C	TOPMed
NCI-TCGA novel	p.Ser292Tyr	missense variant	-	NC_000008.11:g.71271849G>T	NCI-TCGA
rs1410593568	p.Asp293Val	missense variant	-	NC_000008.11:g.71271846T>A	TOPMed
NCI-TCGA novel	p.Arg294Ter	stop gained	-	NC_000008.11:g.71271844G>A	NCI-TCGA
NCI-TCGA novel	p.Arg294Gly	missense variant	-	NC_000008.11:g.71271844G>C	NCI-TCGA
rs757532396	p.Arg294Gln	missense variant	-	NC_000008.11:g.71271843C>T	ExAC,gnomAD
rs146687496	p.Leu295Ser	missense variant	-	NC_000008.11:g.71271840A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3650723	p.Leu295Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71271840A>C	NCI-TCGA Cosmic
rs142104253	p.Arg296Cys	missense variant	-	NC_000008.11:g.71271838G>A	ESP,ExAC,TOPMed,gnomAD
rs181191349	p.Arg296His	missense variant	-	NC_000008.11:g.71271837C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1131691667	p.Arg297Ter	stop gained	-	NC_000008.11:g.71271835G>A	-
rs148647933	p.Arg297Gln	missense variant	-	NC_000008.11:g.71271834C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000380843	p.Arg297Gln	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71271834C>T	ClinVar
RCV000326184	p.Arg297Gln	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71271834C>T	ClinVar
RCV000492842	p.Arg297Ter	nonsense	-	NC_000008.11:g.71271835G>A	ClinVar
RCV000695248	p.Arg297Ter	nonsense	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71271835G>A	ClinVar
rs1385104528	p.Gly298Asp	missense variant	-	NC_000008.11:g.71271831C>T	TOPMed,gnomAD
rs765961794	p.Gly298Ser	missense variant	-	NC_000008.11:g.71271832C>T	ExAC,gnomAD
COSM1101455	p.Gly298Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71271832C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser299Leu	missense variant	-	NC_000008.11:g.71271828G>A	NCI-TCGA
rs876657691	p.Ser299Ter	stop gained	-	NC_000008.11:g.71271828G>T	-
RCV000219278	p.Ser299Ter	nonsense	Rare genetic deafness	NC_000008.11:g.71271828G>T	ClinVar
NCI-TCGA novel	p.Asp300His	missense variant	-	NC_000008.11:g.71271826C>G	NCI-TCGA
COSM3650722	p.Gly301Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71271823C>A	NCI-TCGA Cosmic
rs887536064	p.Lys302Gln	missense variant	-	NC_000008.11:g.71271820T>G	TOPMed
rs1305721914	p.Lys302Arg	missense variant	-	NC_000008.11:g.71271819T>C	gnomAD
rs1036380891	p.Arg304His	missense variant	-	NC_000008.11:g.71271813C>T	gnomAD
rs772877702	p.Arg304Cys	missense variant	-	NC_000008.11:g.71271814G>A	ExAC,TOPMed,gnomAD
rs761539105	p.Arg306Trp	missense variant	-	NC_000008.11:g.71271808G>A	ExAC,TOPMed,gnomAD
rs373250373	p.Arg306Gln	missense variant	-	NC_000008.11:g.71271807C>T	ESP,ExAC,TOPMed,gnomAD
rs1435743529	p.Gly307Val	missense variant	-	NC_000008.11:g.71271804C>A	TOPMed
rs1435743529	p.Gly307Asp	missense variant	-	NC_000008.11:g.71271804C>T	TOPMed
RCV000379541	p.Arg308Gln	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71271801C>T	ClinVar
RCV000266374	p.Arg308Gln	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71271801C>T	ClinVar
RCV000844696	p.Arg308Ter	nonsense	Rare genetic deafness	NC_000008.11:g.71271802G>A	ClinVar
rs369822742	p.Arg308Gln	missense variant	-	NC_000008.11:g.71271801C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs121909195	p.Arg308Gly	missense variant	-	NC_000008.11:g.71271802G>C	ExAC,gnomAD
rs121909195	p.Arg308Ter	stop gained	-	NC_000008.11:g.71271802G>A	ExAC,gnomAD
RCV000008391	p.Arg308Ter	nonsense	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71271802G>A	ClinVar
NCI-TCGA novel	p.Arg309Gly	missense variant	-	NC_000008.11:g.71271799T>C	NCI-TCGA
rs1299287501	p.Asn310Asp	missense variant	-	NC_000008.11:g.71271796T>C	TOPMed,gnomAD
rs745910111	p.Asn310Lys	missense variant	-	NC_000008.11:g.71271794G>T	ExAC,gnomAD
NCI-TCGA novel	p.Asn312Ser	missense variant	-	NC_000008.11:g.71271789T>C	NCI-TCGA
COSM1458105	p.Asn312Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71271788A>T	NCI-TCGA Cosmic
rs868681957	p.Pro313Leu	missense variant	-	NC_000008.11:g.71271786G>A	-
rs1389336466	p.Pro316Ser	missense variant	-	NC_000008.11:g.71271778G>A	gnomAD
COSM5919556	p.Pro317Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71271775G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp318Glu	missense variant	-	NC_000008.11:g.71271770A>C	NCI-TCGA
NCI-TCGA novel	p.Ser319Tyr	missense variant	-	NC_000008.11:g.71271768G>T	NCI-TCGA
rs754882532	p.Glu322Gln	missense variant	-	NC_000008.11:g.71271760C>G	ExAC,gnomAD
rs1431798771	p.Val324Ala	missense variant	-	NC_000008.11:g.71269819A>G	gnomAD
NCI-TCGA novel	p.Phe325Ser	missense variant	-	NC_000008.11:g.71269816A>G	NCI-TCGA
rs1345089916	p.Phe325Leu	missense variant	-	NC_000008.11:g.71269815G>T	TOPMed
rs1177416665	p.Asp328Asn	missense variant	-	NC_000008.11:g.71269808C>T	gnomAD
COSM1101454	p.Thr332Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71269796T>C	NCI-TCGA Cosmic
rs1480195366	p.Ile333Val	missense variant	-	NC_000008.11:g.71269793T>C	gnomAD
rs1220662407	p.Ile334Val	missense variant	-	NC_000008.11:g.71269790T>C	TOPMed
COSM119900	p.His337Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71269781G>A	NCI-TCGA Cosmic
RCV000634144	p.Ser338Ter	frameshift	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71269775_71269778del	ClinVar
rs1266528712	p.Thr341Ile	missense variant	-	NC_000008.11:g.71269768G>A	gnomAD
COSM4855040	p.Thr341Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71269769T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly342Trp	missense variant	-	NC_000008.11:g.71269766C>A	NCI-TCGA
rs770168786	p.Ala345Thr	missense variant	-	NC_000008.11:g.71269757C>T	ExAC,gnomAD
rs1202903388	p.Arg347Thr	missense variant	-	NC_000008.11:g.71269750C>G	gnomAD
RCV000625536	p.Tyr348Ter	nonsense	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71269746A>C	ClinVar
rs1554615511	p.Tyr348Ter	stop gained	-	NC_000008.11:g.71269746A>C	-
NCI-TCGA novel	p.Pro352Ser	missense variant	-	NC_000008.11:g.71244689G>A	NCI-TCGA
COSM6113972	p.Pro352Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71244689G>T	NCI-TCGA Cosmic
RCV000008406	p.Arg361Ter	nonsense	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71244662G>A	ClinVar
rs145219836	p.Arg361Gln	missense variant	-	NC_000008.11:g.71244661C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs121909202	p.Arg361Ter	stop gained	-	NC_000008.11:g.71244662G>A	gnomAD
RCV000008405	p.Arg361Ter	nonsense	Branchiootic syndrome (BOS1)	NC_000008.11:g.71244662G>A	ClinVar
COSM43007	p.Arg361Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71244661C>A	NCI-TCGA Cosmic
rs907099635	p.Met362Ile	missense variant	-	NC_000008.11:g.71244657C>T	TOPMed
NCI-TCGA novel	p.Glu363Gln	missense variant	-	NC_000008.11:g.71244656C>G	NCI-TCGA
RCV000008399	p.Glu363Lys	missense variant	Anterior segment anomalies	NC_000008.11:g.71244656C>T	ClinVar
rs121909198	p.Glu363Lys	missense variant	-	NC_000008.11:g.71244656C>T	-
rs121909198	p.Glu363Lys	missense variant	Anterior segment anomalies with or without cataract (ASA)	NC_000008.11:g.71244656C>T	UniProt,dbSNP
VAR_016864	p.Glu363Lys	missense variant	Anterior segment anomalies with or without cataract (ASA)	NC_000008.11:g.71244656C>T	UniProt
VAR_064944	p.Glu363Val	Missense	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]	-	UniProt
RCV000221224	p.Glu364Ter	nonsense	Rare genetic deafness	NC_000008.11:g.71244653C>A	ClinVar
rs876657689	p.Glu364Ter	stop gained	-	NC_000008.11:g.71244653C>A	-
rs778958308	p.Glu364Asp	missense variant	-	NC_000008.11:g.71244651T>G	ExAC,gnomAD
rs1484562404	p.Met365Thr	missense variant	-	NC_000008.11:g.71244649A>G	TOPMed
rs1410388380	p.Asn368Asp	missense variant	-	NC_000008.11:g.71244641T>C	gnomAD
rs757164392	p.Asn368Ser	missense variant	-	NC_000008.11:g.71244640T>C	ExAC,gnomAD
RCV000149002	p.Leu369Phe	missense variant	Malignant tumor of prostate	NC_000008.11:g.71244636C>A	ClinVar
rs193920835	p.Leu369Phe	missense variant	-	NC_000008.11:g.71244636C>A	ExAC,gnomAD
COSM1101451	p.Ala370Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71244635C>A	NCI-TCGA Cosmic
rs777268280	p.Thr372Ile	missense variant	-	NC_000008.11:g.71244628G>A	ExAC,TOPMed,gnomAD
RCV000255636	p.His373Ter	frameshift	-	NC_000008.11:g.71244626_71244627GT[2]	ClinVar
NCI-TCGA novel	p.His373Pro	missense variant	-	NC_000008.11:g.71244625T>G	NCI-TCGA
rs371974738	p.His373Tyr	missense variant	-	NC_000008.11:g.71244626G>A	ESP,ExAC,gnomAD
RCV000041385	p.Leu374Ter	frameshift	Rare genetic deafness	NC_000008.11:g.71244621del	ClinVar
NCI-TCGA novel	p.Phe375Cys	missense variant	-	NC_000008.11:g.71244619A>C	NCI-TCGA
NCI-TCGA novel	p.Phe376LeuPheSerTerUnk	frameshift	-	NC_000008.11:g.71244615A>-	NCI-TCGA
NCI-TCGA novel	p.Asp378Gly	missense variant	-	NC_000008.11:g.71244610T>C	NCI-TCGA
rs1421127358	p.Asp378Tyr	missense variant	-	NC_000008.11:g.71244611C>A	TOPMed
rs751887655	p.Glu381Gln	missense variant	-	NC_000008.11:g.71217023C>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu381Lys	missense variant	-	NC_000008.11:g.71217023C>T	NCI-TCGA
rs766669312	p.Cys382Arg	missense variant	-	NC_000008.11:g.71217020A>G	ExAC,gnomAD
rs1385811609	p.Cys382Tyr	missense variant	-	NC_000008.11:g.71217019C>T	TOPMed,gnomAD
rs1338058043	p.Asp383Glu	missense variant	-	NC_000008.11:g.71217015G>T	gnomAD
rs1470014710	p.Val385Leu	missense variant	-	NC_000008.11:g.71217011C>G	gnomAD
rs751039720	p.His386Tyr	missense variant	-	NC_000008.11:g.71217008G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp389MetPheSerTerUnkUnk	frameshift	-	NC_000008.11:g.71216999C>-	NCI-TCGA
rs762034700	p.Val390Ala	missense variant	-	NC_000008.11:g.71216995A>G	ExAC,gnomAD
rs762034700	p.Val390Gly	missense variant	-	NC_000008.11:g.71216995A>C	ExAC,gnomAD
rs372488542	p.Asn395Lys	missense variant	-	NC_000008.11:g.71216979G>C	ESP,ExAC,TOPMed,gnomAD
RCV000150674	p.Gly396Arg	missense variant	-	NC_000008.11:g.71216978C>T	ClinVar
rs727503047	p.Gly396Arg	missense variant	-	NC_000008.11:g.71216978C>T	gnomAD
rs760811461	p.Gln397Arg	missense variant	-	NC_000008.11:g.71216974T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp398Glu	missense variant	-	NC_000008.11:g.71216970G>T	NCI-TCGA
rs376251253	p.Thr406Arg	missense variant	-	NC_000008.11:g.71216835G>C	ESP
COSM1101450	p.Thr406Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71216835G>A	NCI-TCGA Cosmic
COSM3650718	p.Pro410Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71216824G>A	NCI-TCGA Cosmic
rs1392799354	p.Ala411Pro	missense variant	-	NC_000008.11:g.71216821C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Ala412Val	missense variant	-	NC_000008.11:g.71216817G>A	NCI-TCGA
rs1388902851	p.Ala412Gly	missense variant	-	NC_000008.11:g.71216817G>C	TOPMed
rs1325043214	p.Ala413Val	missense variant	-	NC_000008.11:g.71216814G>A	TOPMed
NCI-TCGA novel	p.Ser415Asn	missense variant	-	NC_000008.11:g.71216808C>T	NCI-TCGA
rs769657024	p.Ser415Arg	missense variant	-	NC_000008.11:g.71216807A>C	ExAC,gnomAD
NCI-TCGA novel	p.Cys419Tyr	missense variant	-	NC_000008.11:g.71216796C>T	NCI-TCGA
rs761755658	p.Cys419Arg	missense variant	-	NC_000008.11:g.71216797A>G	ExAC,TOPMed,gnomAD
rs768120097	p.Leu420Phe	missense variant	-	NC_000008.11:g.71216792C>G	ExAC,gnomAD
rs768120097	p.Leu420Phe	missense variant	-	NC_000008.11:g.71216792C>A	ExAC,gnomAD
rs779623204	p.Thr422Pro	missense variant	-	NC_000008.11:g.71216788T>G	ExAC,gnomAD
rs779623204	p.Thr422Ser	missense variant	-	NC_000008.11:g.71216788T>A	ExAC,gnomAD
rs771779342	p.Gly423Ala	missense variant	-	NC_000008.11:g.71216784C>G	ExAC,gnomAD
rs771779342	p.Gly423Val	missense variant	-	NC_000008.11:g.71216784C>A	ExAC,gnomAD
rs746195192	p.Val424Ile	missense variant	-	NC_000008.11:g.71216782C>T	ExAC,gnomAD
rs779423947	p.Arg425Trp	missense variant	-	NC_000008.11:g.71216779G>A	ExAC,TOPMed,gnomAD
rs757780695	p.Arg425Gln	missense variant	-	NC_000008.11:g.71216778C>T	ExAC,TOPMed,gnomAD
rs779423947	p.Arg425Gly	missense variant	-	NC_000008.11:g.71216779G>C	ExAC,TOPMed,gnomAD
rs121909199	p.Gly426Ser	missense variant	-	NC_000008.11:g.71216776C>T	ExAC,TOPMed,gnomAD
rs1181243766	p.Gly426Ala	missense variant	-	NC_000008.11:g.71216775C>G	gnomAD
rs121909199	p.Gly426Ser	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71216776C>T	UniProt,dbSNP
VAR_016865	p.Gly426Ser	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71216776C>T	UniProt
RCV000309264	p.Gly426Ser	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71216776C>T	ClinVar
RCV000367199	p.Gly426Ser	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71216776C>T	ClinVar
rs752939522	p.Gly427Asp	missense variant	-	NC_000008.11:g.71216772C>T	ExAC,gnomAD
rs756186032	p.Gly427Ser	missense variant	-	NC_000008.11:g.71216773C>T	ExAC,TOPMed,gnomAD
rs1488650592	p.Val428Met	missense variant	-	NC_000008.11:g.71216770C>T	TOPMed
VAR_016866	p.Asp429Gly	Missense	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]	-	UniProt
rs1211420496	p.Met431Thr	missense variant	-	NC_000008.11:g.71216760A>G	TOPMed
NCI-TCGA novel	p.Arg432Thr	missense variant	-	NC_000008.11:g.71216757C>G	NCI-TCGA
rs1267032760	p.Arg432Gly	missense variant	-	NC_000008.11:g.71216758T>C	TOPMed
rs727503046	p.Arg432Lys	missense variant	-	NC_000008.11:g.71216757C>T	ExAC,gnomAD
RCV000150672	p.Arg432Lys	missense variant	-	NC_000008.11:g.71216757C>T	ClinVar
rs759781016	p.Lys433Arg	missense variant	-	NC_000008.11:g.71216754T>C	ExAC,gnomAD
rs138550731	p.Ala435Thr	missense variant	-	NC_000008.11:g.71216749C>T	1000Genomes
NCI-TCGA novel	p.Phe436Val	missense variant	-	NC_000008.11:g.71216746A>C	NCI-TCGA
COSM4405250	p.Phe436Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71216745A>G	NCI-TCGA Cosmic
rs1240529273	p.Arg437Cys	missense variant	-	NC_000008.11:g.71216743G>A	TOPMed,gnomAD
rs750164019	p.Arg437His	missense variant	-	NC_000008.11:g.71216742C>T	ExAC,gnomAD
rs1240529273	p.Arg437Ser	missense variant	-	NC_000008.11:g.71216743G>T	TOPMed,gnomAD
COSM4862493	p.Arg437Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71216742C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Tyr438His	missense variant	-	NC_000008.11:g.71216740A>G	NCI-TCGA
rs1374801818	p.Tyr438Cys	missense variant	-	NC_000008.11:g.71216739T>C	TOPMed,gnomAD
rs1374801818	p.Tyr438Phe	missense variant	-	NC_000008.11:g.71216739T>A	TOPMed,gnomAD
RCV000219608	p.Arg440Trp	missense variant	-	NC_000008.11:g.71216734G>A	ClinVar
rs121909196	p.Arg440Gln	missense variant	-	NC_000008.11:g.71216733C>T	-
rs121909196	p.Arg440Gln	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71216733C>T	UniProt,dbSNP
VAR_016867	p.Arg440Gln	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71216733C>T	UniProt
rs376931849	p.Arg440Trp	missense variant	-	NC_000008.11:g.71216734G>A	ESP,ExAC,gnomAD
RCV000844628	p.Arg440Gln	missense variant	Rare genetic deafness	NC_000008.11:g.71216733C>T	ClinVar
RCV000008397	p.Arg440Gln	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71216733C>T	ClinVar
NCI-TCGA novel	p.Val441Ala	missense variant	-	NC_000008.11:g.71216730A>G	NCI-TCGA
COSM6181616	p.Val441Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71216731C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys442SerPheSerTerUnkUnk	frameshift	-	NC_000008.11:g.71216727_71216728insCCTACAGGGTAAATAC	NCI-TCGA
NCI-TCGA novel	p.Glu443Asp	missense variant	-	NC_000008.11:g.71216723C>A	NCI-TCGA
NCI-TCGA novel	p.Glu443Gln	missense variant	-	NC_000008.11:g.71216725C>G	NCI-TCGA
RCV000634146	p.Glu443Ter	frameshift	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71216723_71216724CT[1]	ClinVar
rs533769812	p.Ile444Phe	missense variant	-	NC_000008.11:g.71216722T>A	1000Genomes,ExAC,gnomAD
rs1406115296	p.Tyr445Cys	missense variant	-	NC_000008.11:g.71216718T>C	gnomAD
rs771783731	p.Thr447Ile	missense variant	-	NC_000008.11:g.71216712G>A	ExAC,TOPMed,gnomAD
rs775097398	p.Thr447Ala	missense variant	-	NC_000008.11:g.71216713T>C	ExAC,gnomAD
rs779406323	p.Tyr448Cys	missense variant	-	NC_000008.11:g.71216709T>C	ExAC,gnomAD
rs373851946	p.Tyr448His	missense variant	-	NC_000008.11:g.71216710A>G	ESP
NCI-TCGA novel	p.Asn450LysPheSerTerUnk	frameshift	-	NC_000008.11:g.71216702_71216703insT	NCI-TCGA
rs1471693639	p.Asn451Ser	missense variant	-	NC_000008.11:g.71216700T>C	gnomAD
NCI-TCGA novel	p.Val452Ile	missense variant	-	NC_000008.11:g.71216698C>T	NCI-TCGA
rs771397353	p.Pro458Ala	missense variant	-	NC_000008.11:g.71215717G>C	ExAC,TOPMed,gnomAD
rs1428992631	p.Ala459Gly	missense variant	-	NC_000008.11:g.71215713G>C	TOPMed,gnomAD
COSM3650713	p.Ala459Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71215714C>G	NCI-TCGA Cosmic
rs770129052	p.Glu462Lys	missense variant	-	NC_000008.11:g.71215705C>T	ExAC,gnomAD
rs997974243	p.Glu462Asp	missense variant	-	NC_000008.11:g.71215703T>A	TOPMed
COSM3901376	p.Glu462Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71215703T>G	NCI-TCGA Cosmic
rs1263352919	p.Ala463Thr	missense variant	-	NC_000008.11:g.71215702C>T	TOPMed,gnomAD
rs1201441499	p.Ala463Val	missense variant	-	NC_000008.11:g.71215701G>A	gnomAD
rs781247880	p.Leu467Phe	missense variant	-	NC_000008.11:g.71215688C>G	ExAC,gnomAD
rs755093166	p.Arg468Lys	missense variant	-	NC_000008.11:g.71215686C>T	ExAC,gnomAD
rs727503044	p.Arg468Gly	missense variant	-	NC_000008.11:g.71215687T>C	-
RCV000150670	p.Arg468Gly	missense variant	-	NC_000008.11:g.71215687T>C	ClinVar
rs1366511376	p.Ala469Thr	missense variant	-	NC_000008.11:g.71215684C>T	gnomAD
rs780203392	p.Glu470Lys	missense variant	-	NC_000008.11:g.71215681C>T	ExAC,TOPMed,gnomAD
COSM4400675	p.Glu470Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71215680T>G	NCI-TCGA Cosmic
rs1326367793	p.Ile471Phe	missense variant	-	NC_000008.11:g.71215678T>A	TOPMed
COSM6181618	p.Ala473Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71215672C>A	NCI-TCGA Cosmic
rs1337631504	p.Thr475Asn	missense variant	-	NC_000008.11:g.71215665G>T	gnomAD
RCV000221919	p.Asp476Asn	missense variant	-	NC_000008.11:g.71215663C>T	ClinVar
rs371408686	p.Asp476Asn	missense variant	-	NC_000008.11:g.71215663C>T	ESP,ExAC,TOPMed,gnomAD
rs755991512	p.Ser477Cys	missense variant	-	NC_000008.11:g.71215659G>C	ExAC,gnomAD
rs1475718221	p.Trp478Leu	missense variant	-	NC_000008.11:g.71215656C>A	gnomAD
rs752745332	p.Leu479Val	missense variant	-	NC_000008.11:g.71215654A>C	ExAC
rs1320843367	p.Leu479Phe	missense variant	-	NC_000008.11:g.71215652C>G	TOPMed
NCI-TCGA novel	p.Leu481Met	missense variant	-	NC_000008.11:g.71215648G>T	NCI-TCGA
rs767104377	p.Leu481Val	missense variant	-	NC_000008.11:g.71215648G>C	ExAC,gnomAD
COSM3432548	p.Ala482Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71215644G>A	NCI-TCGA Cosmic
rs778970223	p.Ala485Val	missense variant	-	NC_000008.11:g.71215635G>A	ExAC,TOPMed,gnomAD
RCV000289230	p.Ser487Leu	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71215629G>A	ClinVar
RCV000008402	p.Ser487Pro	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71215630A>G	ClinVar
rs139717960	p.Ser487Leu	missense variant	-	NC_000008.11:g.71215629G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs121909200	p.Ser487Pro	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71215630A>G	UniProt,dbSNP
VAR_005203	p.Ser487Pro	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71215630A>G	UniProt
rs121909200	p.Ser487Pro	missense variant	-	NC_000008.11:g.71215630A>G	ExAC,gnomAD
RCV000401819	p.Ser487Leu	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71215629G>A	ClinVar
rs748575456	p.His490Asn	missense variant	-	NC_000008.11:g.71215621G>T	ExAC,TOPMed,gnomAD
rs748575456	p.His490Tyr	missense variant	-	NC_000008.11:g.71215621G>A	ExAC,TOPMed,gnomAD
rs769175446	p.Ser491Cys	missense variant	-	NC_000008.11:g.71215617G>C	ExAC,gnomAD
rs1226367549	p.Arg492Trp	missense variant	-	NC_000008.11:g.71215615G>A	gnomAD
RCV000681783	p.Cys495Ser	missense variant	-	NC_000008.11:g.71215501A>T	ClinVar
COSM3901370	p.Val496Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71215498C>T	NCI-TCGA Cosmic
rs779243288	p.Asn497Asp	missense variant	-	NC_000008.11:g.71215495T>C	ExAC,TOPMed,gnomAD
rs374397914	p.Ile498Val	missense variant	-	NC_000008.11:g.71215492T>C	ESP,ExAC,gnomAD
rs963923024	p.Leu499Ser	missense variant	-	NC_000008.11:g.71215488A>G	TOPMed
RCV000008407	p.Thr501Ter	frameshift	Branchiootic syndrome (BOS1)	NC_000008.11:g.71215479_71215485del	ClinVar
RCV000008403	p.Leu505Arg	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71215470A>C	ClinVar
rs121909201	p.Leu505Arg	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71215470A>C	UniProt,dbSNP
VAR_005204	p.Leu505Arg	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71215470A>C	UniProt
rs121909201	p.Leu505Arg	missense variant	-	NC_000008.11:g.71215470A>C	-
NCI-TCGA novel	p.Ala508Ser	missense variant	-	NC_000008.11:g.71215462C>A	NCI-TCGA
rs754901033	p.Ala508Val	missense variant	-	NC_000008.11:g.71215461G>A	ExAC,TOPMed,gnomAD
rs1180421427	p.Ala510Thr	missense variant	-	NC_000008.11:g.71215456C>T	TOPMed,gnomAD
rs1057520766	p.Lys511Ter	stop gained	-	NC_000008.11:g.71215453T>A	TOPMed
rs1057520766	p.Lys511Glu	missense variant	-	NC_000008.11:g.71215453T>C	TOPMed
RCV000420560	p.Lys511Ter	nonsense	-	NC_000008.11:g.71215453T>A	ClinVar
NCI-TCGA novel	p.Tyr515His	missense variant	-	NC_000008.11:g.71215441A>G	NCI-TCGA
NCI-TCGA novel	p.Gly518Ter	stop gained	-	NC_000008.11:g.71215432C>A	NCI-TCGA
NCI-TCGA novel	p.Gly518Arg	missense variant	-	NC_000008.11:g.71215432C>T	NCI-TCGA
NCI-TCGA novel	p.Gly518Glu	missense variant	-	NC_000008.11:g.71215431C>T	NCI-TCGA
NCI-TCGA novel	p.Ile519Asn	missense variant	-	NC_000008.11:g.71215428A>T	NCI-TCGA
rs757978078	p.Phe521Leu	missense variant	-	NC_000008.11:g.71215423A>G	ExAC,gnomAD
rs1216806432	p.Pro522Ser	missense variant	-	NC_000008.11:g.71215420G>A	TOPMed,gnomAD
COSM3650707	p.Pro522Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71215420G>C	NCI-TCGA Cosmic
rs749926851	p.Ile523Thr	missense variant	-	NC_000008.11:g.71215416A>G	ExAC,gnomAD
rs1286346149	p.Ile523Val	missense variant	-	NC_000008.11:g.71215417T>C	gnomAD
rs764905187	p.Ile526Val	missense variant	-	NC_000008.11:g.71215408T>C	ExAC,gnomAD
rs397517918	p.Tyr527Asn	missense variant	-	NC_000008.11:g.71215405A>T	-
RCV000041389	p.Tyr527Asn	missense variant	Rare genetic deafness	NC_000008.11:g.71215405A>T	ClinVar
VAR_064946	p.Tyr527Cys	Missense	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]	-	UniProt
COSM1101448	p.Ile532Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71215390T>G	NCI-TCGA Cosmic
RCV000681852	p.Gly533Arg	missense variant	-	NC_000008.11:g.71215387C>G	ClinVar
COSM3901368	p.Lys534Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71211252T>G	NCI-TCGA Cosmic
rs756891032	p.Glu535Lys	missense variant	-	NC_000008.11:g.71211251C>T	ExAC,gnomAD
COSM1101447	p.Glu535Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.71211251C>A	NCI-TCGA Cosmic
COSM3650705	p.Glu535Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71211249T>A	NCI-TCGA Cosmic
rs1271698025	p.Cys537Ser	missense variant	-	NC_000008.11:g.71211244C>G	TOPMed
RCV000634145	p.Cys537Arg	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71211245A>G	ClinVar
rs1554594182	p.Cys537Arg	missense variant	-	NC_000008.11:g.71211245A>G	-
RCV000477858	p.Glu539Ter	nonsense	Branchiootic syndrome (BOS1)	NC_000008.11:g.71211239C>A	ClinVar
rs1060499603	p.Glu539Ter	stop gained	-	NC_000008.11:g.71211239C>A	-
NCI-TCGA novel	p.Arg540Ile	missense variant	-	NC_000008.11:g.71211235C>A	NCI-TCGA
rs979889982	p.Arg540Ser	missense variant	-	NC_000008.11:g.71211234T>A	TOPMed,gnomAD
rs753553594	p.Ile541Leu	missense variant	-	NC_000008.11:g.71211233T>G	ExAC,gnomAD
rs753553594	p.Ile541Val	missense variant	-	NC_000008.11:g.71211233T>C	ExAC,gnomAD
rs1410459961	p.Ile542Asn	missense variant	-	NC_000008.11:g.71211229A>T	gnomAD
rs764411004	p.Ile542Met	missense variant	-	NC_000008.11:g.71211228A>C	ExAC
COSM4839080	p.Ile542Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71211230T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg544Met	missense variant	-	NC_000008.11:g.71211223C>A	NCI-TCGA
rs756517701	p.Arg544Lys	missense variant	-	NC_000008.11:g.71211223C>T	ExAC,gnomAD
COSM3901367	p.Arg544Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71211222C>A	NCI-TCGA Cosmic
rs1392532916	p.Phe545Ser	missense variant	-	NC_000008.11:g.71211220A>G	gnomAD
NCI-TCGA novel	p.Arg547Thr	missense variant	-	NC_000008.11:g.71211214C>G	NCI-TCGA
rs121909197	p.Arg547Gly	missense variant	-	NC_000008.11:g.71211215T>C	-
rs121909197	p.Arg547Gly	missense variant	Anterior segment anomalies with or without cataract (ASA)	NC_000008.11:g.71211215T>C	UniProt,dbSNP
VAR_016868	p.Arg547Gly	missense variant	Anterior segment anomalies with or without cataract (ASA)	NC_000008.11:g.71211215T>C	UniProt
RCV000008398	p.Arg547Gly	missense variant	Anterior segment anomalies and cataract	NC_000008.11:g.71211215T>C	ClinVar
rs753024835	p.Val549Ala	missense variant	-	NC_000008.11:g.71211208A>G	ExAC,TOPMed,gnomAD
rs1475511000	p.Ile554Thr	missense variant	-	NC_000008.11:g.71211193A>G	TOPMed
rs1422893057	p.Ile554Leu	missense variant	-	NC_000008.11:g.71211194T>A	TOPMed
rs766423472	p.Gly557Ala	missense variant	-	NC_000008.11:g.71211184C>G	ExAC,TOPMed,gnomAD
rs376013085	p.Val558Ala	missense variant	-	NC_000008.11:g.71211181A>G	ESP,ExAC,TOPMed,gnomAD
rs1457532578	p.Glu561Gln	missense variant	-	NC_000008.11:g.71211173C>G	TOPMed
RCV000536666	p.Gln562Ter	nonsense	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71211170G>A	ClinVar
rs916761910	p.Gln562Arg	missense variant	-	NC_000008.11:g.71211169T>C	TOPMed
rs1481254965	p.Gln562Glu	missense variant	-	NC_000008.11:g.71211170G>C	TOPMed,gnomAD
rs1481254965	p.Gln562Ter	stop gained	-	NC_000008.11:g.71211170G>A	TOPMed,gnomAD
rs1429589719	p.Gly563Arg	missense variant	-	NC_000008.11:g.71211167C>T	gnomAD
rs1180940999	p.Gly563Glu	missense variant	-	NC_000008.11:g.71211166C>T	gnomAD
rs549524090	p.Ala564Gly	missense variant	-	NC_000008.11:g.71211163G>C	1000Genomes,ExAC,gnomAD
rs549524090	p.Ala564Glu	missense variant	-	NC_000008.11:g.71211163G>T	1000Genomes,ExAC,gnomAD
rs1471350873	p.Ala564Thr	missense variant	-	NC_000008.11:g.71211164C>T	gnomAD
rs1318210474	p.Lys565Ile	missense variant	-	NC_000008.11:g.71211160T>A	TOPMed
rs1309239827	p.Lys565Glu	missense variant	-	NC_000008.11:g.71211161T>C	gnomAD
RCV000008396	p.Lys565Ter	frameshift	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71211156_71211159del	ClinVar
NCI-TCGA novel	p.Lys566SerPheSerTerUnkUnk	frameshift	-	NC_000008.11:g.71211157T>-	NCI-TCGA
rs143798228	p.Lys566Thr	missense variant	-	NC_000008.11:g.71211157T>G	ESP,ExAC,TOPMed,gnomAD
rs143798228	p.Lys566Arg	missense variant	-	NC_000008.11:g.71211157T>C	ESP,ExAC,TOPMed,gnomAD
RCV000041390	p.Lys566Ter	frameshift	Rare genetic deafness	NC_000008.11:g.71211156_71211157insA	ClinVar
NCI-TCGA novel	p.His567AlaPheSerTerUnkUnk	frameshift	-	NC_000008.11:g.71211156_71211157insT	NCI-TCGA
rs763080811	p.His567Gln	missense variant	-	NC_000008.11:g.71199418G>T	ExAC,gnomAD
rs773461292	p.Ala568Thr	missense variant	-	NC_000008.11:g.71199417C>T	ExAC,gnomAD
rs765493132	p.Ala568Val	missense variant	-	NC_000008.11:g.71199416G>A	ExAC,gnomAD
VAR_064947	p.Met569Thr	Missense	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]	-	UniProt
COSM5409832	p.Pro570Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71199411G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Phe571Leu	missense variant	-	NC_000008.11:g.71199408A>G	NCI-TCGA
RCV000486264	p.Trp572Ter	frameshift	-	NC_000008.11:g.71199405dup	ClinVar
rs775343638	p.Arg573Gly	missense variant	-	NC_000008.11:g.71199402T>C	ExAC,TOPMed,gnomAD
rs771831582	p.Ile574Thr	missense variant	-	NC_000008.11:g.71199398A>G	ExAC,gnomAD
rs1048727343	p.Ile574Val	missense variant	-	NC_000008.11:g.71199399T>C	TOPMed,gnomAD
rs745786446	p.Ser575Pro	missense variant	-	NC_000008.11:g.71199396A>G	ExAC,gnomAD
rs774201991	p.Ser575Cys	missense variant	-	NC_000008.11:g.71199395G>C	ExAC,gnomAD
COSM3650703	p.His577Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71199390G>A	NCI-TCGA Cosmic
rs900450966	p.Ser578Leu	missense variant	-	NC_000008.11:g.71199386G>A	gnomAD
NCI-TCGA novel	p.Asp579Tyr	missense variant	-	NC_000008.11:g.71199384C>A	NCI-TCGA
RCV000763604	p.Leu583Pro	missense variant	Branchiootic syndrome (BOS1)	NC_000008.11:g.71199371A>G	ClinVar
rs397517920	p.Leu583Pro	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71199371A>G	UniProt,dbSNP
VAR_016869	p.Leu583Pro	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71199371A>G	UniProt
rs397517920	p.Leu583Pro	missense variant	-	NC_000008.11:g.71199371A>G	-
RCV000041392	p.Leu583Pro	missense variant	Rare genetic deafness	NC_000008.11:g.71199371A>G	ClinVar

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE;CTD_human
C0000846	Agenesis	disease	BEFREE
C0003467	Anxiety	disease	BEFREE
C0003469	Anxiety Disorders	group	BEFREE
C0006012	Borderline Personality Disorder	disease	BEFREE
C0006131	Branchioma	disease	BEFREE;HPO
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0006272	Bronchiolitis Obliterans	disease	BEFREE
C0008373	Cholesteatoma	disease	HPO
C0009207	Cockayne Syndrome	disease	BEFREE
C0009691	Congenital cataract	disease	BEFREE
C0011053	Deafness	phenotype	HPO
C0011570	Mental Depression	disease	BEFREE
C0011581	Depressive disorder	disease	BEFREE
C0012236	DiGeorge Syndrome	disease	BEFREE
C0013261	Duane Retraction Syndrome	disease	BEFREE
C0016842	Congenital pectus excavatum	disease	LHGDN
C0018772	Hearing Loss, Partial	phenotype	HPO
C0018777	Conductive hearing loss	disease	BEFREE;CTD_human;HPO
C0018784	Sensorineural Hearing Loss (disorder)	disease	HPO
C0018798	Congenital Heart Defects	group	CTD_human
C0019555	Hip Dislocation, Congenital	disease	HPO
C0020255	Hydrocephalus	disease	BEFREE
C0022680	Polycystic Kidney Diseases	group	HPO
C0025149	Medulloblastoma	disease	BEFREE
C0025362	Mental Retardation	disease	HPO
C0026106	Mild Mental Retardation	disease	HPO
C0026826	Muscle Hypertonia	phenotype	HPO
C0027708	Nephroblastoma	disease	BEFREE
C0037822	Speech Disorders	group	HPO
C0042580	Vesico-Ureteral Reflux	disease	BEFREE;HPO
C0086543	Cataract	disease	GENOMICS_ENGLAND
C0151889	Hyperreflexia	phenotype	HPO
C0152421	Macrotia	disease	HPO
C0152423	Congenital small ears	disease	HPO
C0155552	Hearing Loss, Mixed Conductive-Sensorineural	disease	HPO
C0221210	Congenital malrotation of intestine	disease	HPO
C0221365	Double ureter	disease	BEFREE
C0238210	Malrotation of kidney	disease	HPO
C0239234	Low set ears	phenotype	HPO
C0240340	Microdontia (disorder)	disease	HPO
C0240635	Byzanthine arch palate	disease	HPO
C0240953	Winged scapula	phenotype	HPO
C0265234	Branchio-Oto-Renal Syndrome	disease	BEFREE;CLINVAR;CTD_human;LHGDN;MGD;ORPHANET;UNIPROT
C0265246	Townes syndrome	disease	BEFREE
C0266063	Deep overbite	disease	HPO
C0266067	Posterior lingual occlusion of mandibular teeth	disease	HPO
C0266122	Cleft uvula	disease	HPO
C0266225	Persistent cloaca	disease	BEFREE
C0266292	Congenital anomaly of the kidney	group	BEFREE
C0266589	Congenital ear anomaly NOS (disorder)	group	HPO
C0266610	Preauricular dimple	disease	HPO
C0266625	Congenital preauricular sinus	disease	HPO
C0302859	Euthyroid Goiter	disease	HPO
C0339789	Congenital deafness	disease	BEFREE;HPO
C0349588	Short stature	phenotype	HPO
C0376524	Branchio-Oculo-Facial Syndrome	disease	CTD_human
C0376634	Craniofacial Abnormalities	group	BEFREE;CTD_human
C0395837	Stenosis of external auditory canal	disease	HPO
C0423903	Low intelligence	phenotype	HPO
C0426422	Narrow nose	phenotype	HPO
C0431406	Asymmetric crying face association	disease	BEFREE;CTD_human
C0431693	Renal cysts and diabetes syndrome	disease	BEFREE
C0432333	Abnormal dermatoglyphic pattern	disease	HPO
C0541764	Delayed bone age	phenotype	HPO
C0542519	Congenital absence of kidney	disease	HPO
C0546968	Fistula of branchial cleft	disease	HPO
C0546969	Preauricular Fistulae, Congenital	disease	BEFREE;HPO
C0554972	Large auricle	phenotype	HPO
C0557874	Global developmental delay	disease	BEFREE;HPO
C0576860	Narrowing of ear canal	phenotype	HPO
C0596263	Carcinogenesis	phenotype	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0848558	Hypospadias	group	BEFREE
C0917816	Mental deficiency	disease	HPO
C1305420	Prominent ear	phenotype	HPO
C1305740	Overbite	phenotype	HPO
C1384666	hearing impairment	phenotype	HPO
C1398325	Absent auditory canals	disease	HPO
C1458155	Mammary Neoplasms	group	BEFREE
C1567435	Polycystic Kidney - body part	phenotype	HPO
C1619700	RENAL ADYSPLASIA	disease	HPO
C1691215	Penile hypospadias	disease	BEFREE
C1833691	Otofaciocervical Syndrome	disease	BEFREE;CTD_human;ORPHANET
C1836047	Long face	phenotype	HPO
C1836542	Depressed nasal bridge	phenotype	HPO
C1836678	Abnormality of the middle ear ossicles	phenotype	HPO
C1837463	Narrow face	phenotype	HPO
C1839816	Long neck	phenotype	HPO
C1840077	Anteverted nostril	phenotype	HPO
C1840305	Absent external auditory canals	phenotype	HPO
C1843367	Poor school performance	phenotype	HPO
C1845447	Cupped ears (finding)	phenotype	HPO
C1846460	Abnormality of the outer ear	phenotype	HPO
C1849121	Thin face	phenotype	HPO
C1850189	Large pinnae	phenotype	HPO
C1851303	Abnormality of the renal collecting system	phenotype	HPO
C1852759	Papillorenal syndrome	disease	BEFREE
C1855285	Protruding ear	phenotype	HPO
C1856872	Down-sloping shoulders	phenotype	HPO
C1857078	Mondini malformation	phenotype	HPO
C1857079	Atretic auditory canal	disease	HPO
C1857453	Renal hypoplasia/aplasia	phenotype	HPO
C1857456	Morphological abnormality of the middle ear	phenotype	HPO
C1860816	Preauricular skin tag	phenotype	HPO
C1862050	Cochlear malformation	phenotype	HPO
C1862052	Gustatory lacrimation	phenotype	HPO
C1864897	Cognitive delay	phenotype	HPO
C1865143	BRANCHIOOTIC SYNDROME 1	disease	BEFREE;CLINVAR;CTD_human;ORPHANET;UNIPROT
C1866190	Atresia of the external auditory canal	phenotype	HPO
C1866231	Full cheeks	phenotype	HPO
C1968949	Cakut	disease	GENOMICS_ENGLAND
C1970479	Branchiootorenal Syndrome 2	disease	CTD_human
C2676973	Dilatated internal auditory canal	phenotype	HPO
C2676974	Hypoplasia of the cochlea	phenotype	HPO
C2748653	Chubby cheeks	phenotype	HPO
C2931416	Fara Chlupackova syndrome	disease	ORPHANET
C2981150	Uranostaphyloschisis	disease	HPO
C3152182	Anterior chamber anomalies	phenotype	CLINVAR
C3494422	Retrognathia	phenotype	HPO
C3536714	Renal dysplasia	disease	BEFREE;HPO
C3550546	Depressed nasal root/bridge	phenotype	HPO
C3551443	ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT	disease	ORPHANET;UNIPROT
C3642346	Luminal B Breast Carcinoma	disease	BEFREE
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND;HPO
C3714941	OTOFACIOCERVICAL SYNDROME 1	disease	CLINVAR
C3806443	Puffy cheeks	phenotype	HPO
C4016751	ANTERIOR SEGMENT ANOMALIES AND CATARACT	phenotype	CLINVAR
C4020875	Mental and motor retardation	phenotype	HPO
C4020876	Dull intelligence	phenotype	HPO
C4020892	Capuchin ears	disease	HPO
C4021154	Enlarged cochlear aqueduct	phenotype	HPO
C4021395	Abnormality of the antihelix	phenotype	HPO
C4021762	Abnormality of the cerebrum	phenotype	HPO
C4021792	Abnormality of the clavicle	phenotype	HPO
C4021796	Renal steatosis	disease	HPO
C4025857	Incomplete partition of the cochlea type II	phenotype	HPO
C4048228	Congenital anomaly of anterior segment of eye	disease	BEFREE
C4072826	Skin tag on the posterior cheek	phenotype	HPO
C4072849	Scapular weakness	phenotype	HPO
C4280495	Concave bridge of nose	phenotype	HPO
C4280611	Decreased size of teeth	phenotype	HPO
C4280612	Decreased width of tooth	phenotype	HPO
C4280647	Hypertrophy of cheeks	phenotype	HPO
C4280648	Hyperplasia of cheeks	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003723	RNA binding	IEA
GO:0004725	protein tyrosine phosphatase activity	IDA
GO:0004725	protein tyrosine phosphatase activity	IBA
GO:0005515	protein binding	IPI
GO:0046872	metal ion binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001656	metanephros development	IEA
GO:0001658	branching involved in ureteric bud morphogenesis	IEA
GO:0003151	outflow tract morphogenesis	IEA
GO:0006302	double-strand break repair	IMP
GO:0007389	pattern specification process	IEA
GO:0007501	mesodermal cell fate specification	IEA
GO:0007605	sensory perception of sound	TAS
GO:0009653	anatomical structure morphogenesis	TAS
GO:0010212	response to ionizing radiation	IDA
GO:0014706	striated muscle tissue development	IEA
GO:0016576	histone dephosphorylation	IDA
GO:0016576	histone dephosphorylation	IBA
GO:0016925	protein sumoylation	ISS
GO:0030154	cell differentiation	IBA
GO:0035335	peptidyl-tyrosine dephosphorylation	IEA
GO:0035909	aorta morphogenesis	IEA
GO:0042473	outer ear morphogenesis	IEA
GO:0042474	middle ear morphogenesis	IEA
GO:0045664	regulation of neuron differentiation	IEA
GO:0045739	positive regulation of DNA repair	IMP
GO:0045739	positive regulation of DNA repair	IBA
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA
GO:0048665	neuron fate specification	IEA
GO:0048704	embryonic skeletal system morphogenesis	IEA
GO:0048752	semicircular canal morphogenesis	IEA
GO:0048856	anatomical structure development	IBA
GO:0050679	positive regulation of epithelial cell proliferation	IEA
GO:0060037	pharyngeal system development	IEA
GO:0071600	otic vesicle morphogenesis	IEA
GO:0072513	positive regulation of secondary heart field cardioblast proliferation	IEA
GO:0090103	cochlea morphogenesis	IEA
GO:2001240	negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IBA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	IDA
GO:0005634	nucleus	IBA
GO:0005654	nucleoplasm	IDA
GO:0005654	nucleoplasm	TAS
GO:0005737	cytoplasm	IDA
GO:0016604	nuclear body	IDA
GO:0032993	protein-DNA complex	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-5693532	DNA Double-Strand Break Repair	TAS
R-HSA-5693565	Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks	TAS
R-HSA-5693606	DNA Double Strand Break Response	TAS
R-HSA-73894	DNA Repair	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of EYA1 mRNA	27188386
D000082	Acetaminophen	Acetaminophen results in decreased expression of EYA1 mRNA	29067470
D020106	Acrylamide	Acrylamide results in decreased expression of EYA1 mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of EYA1 gene	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of EYA1 intron	30157460
C029753	aflatoxin B2	aflatoxin B2 results in decreased methylation of EYA1 intron	30157460
D001280	Atrazine	Atrazine results in increased expression of EYA1 mRNA	29505797
D001374	Azacitidine	Azacitidine results in decreased expression of EYA1 mRNA	20823114
C026487	benzo(e)pyrene	benzo(e)pyrene results in increased methylation of EYA1 intron	30157460
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of EYA1 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the expression of EYA1 mRNA	21786754
C006780	bisphenol A	bisphenol A results in decreased methylation of EYA1 3' UTR	30906313
C006780	bisphenol A	bisphenol A results in decreased methylation of EYA1 intron	30906313
C006780	bisphenol A	bisphenol A results in increased expression of EYA1 mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of EYA1 mRNA	25181051
C000611646	bisphenol F	bisphenol F results in increased expression of EYA1 mRNA	30951980
D003994	Bucladesine	[Estradiol co-treated with Bucladesine co-treated with Medroxyprogesterone Acetate] results in decreased expression of EYA1 mRNA	20823114
D002104	Cadmium	Cadmium results in decreased expression of EYA1 mRNA	23358151
D002220	Carbamazepine	Carbamazepine affects the expression of EYA1 mRNA	25979313
D002922	Ciguatoxins	Ciguatoxins affects the expression of EYA1 mRNA	18353800
D002994	Clofibrate	Clofibrate results in decreased expression of EYA1 mRNA	17585979
D003033	Coal Tar	Coal Tar results in decreased expression of EYA1 mRNA	27858113
D003042	Cocaine	Cocaine results in increased expression of EYA1 mRNA	15009677
D003300	Copper	Copper results in decreased expression of EYA1 mRNA	26293553
D004052	Diethylnitrosamine	[indole-3-carbinol co-treated with Diethylnitrosamine] results in increased expression of EYA1 mRNA	22129741
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of EYA1 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of EYA1 mRNA	29803840
D004958	Estradiol	[Estradiol co-treated with Bucladesine co-treated with Medroxyprogesterone Acetate] results in decreased expression of EYA1 mRNA	20823114
C029424	hydrazine	hydrazine results in increased expression of EYA1 mRNA	15282401
C545476	incobotulinumtoxinA	incobotulinumtoxinA results in increased expression of EYA1 mRNA	29522793
C016517	indole-3-carbinol	[indole-3-carbinol co-treated with Diethylnitrosamine] results in increased expression of EYA1 mRNA	22129741
D017258	Medroxyprogesterone Acetate	[Estradiol co-treated with Bucladesine co-treated with Medroxyprogesterone Acetate] results in decreased expression of EYA1 mRNA	20823114
D008701	Methapyrilene	Methapyrilene results in increased methylation of EYA1 intron	30157460
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of EYA1 mRNA	26011545
D009151	Mustard Gas	Mustard Gas results in increased expression of EYA1 mRNA	15674843
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of EYA1 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of EYA1 mRNA	25554681
C029938	nickel sulfate	nickel sulfate results in decreased expression of EYA1 mRNA	22714537
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of EYA1 mRNA	20188158
C011272	perfosfamide	perfosfamide results in decreased expression of EYA1 mRNA	19429390
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of EYA1 mRNA	19710929
D010936	Plant Extracts	Plant Extracts results in decreased expression of EYA1 mRNA	23557933
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of EYA1 mRNA	22714537
C513428	pyrachlostrobin	pyrachlostrobin results in increased expression of EYA1 mRNA	27029645
D012834	Silver	Silver results in decreased expression of EYA1 mRNA	27131904
D000077210	Sunitinib	Sunitinib results in decreased expression of EYA1 mRNA	31533062
D019284	Thapsigargin	Thapsigargin results in decreased expression of EYA1 protein	24648495
D013893	Thiram	Thiram results in decreased expression of EYA1 mRNA	20530235
C009495	titanium dioxide	titanium dioxide results in decreased expression of EYA1 mRNA	27760801
C009495	titanium dioxide	titanium dioxide results in increased expression of EYA1 mRNA	29264374
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of EYA1 mRNA	28065790
D014212	Tretinoin	Tretinoin results in decreased expression of EYA1 mRNA	23724009
D014212	Tretinoin	Tretinoin results in increased expression of EYA1 mRNA	21934132
C011559	tributyltin	tributyltin results in increased expression of EYA1 mRNA	29505797
C012589	trichostatin A	trichostatin A results in increased expression of EYA1 mRNA	24935251
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of EYA1 mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in increased expression of EYA1 mRNA	23179753; 24383497; 24935251; 26272509; 27188386;
D014638	Vanadates	Vanadates results in increased expression of EYA1 mRNA	22714537
D001335	Vehicle Emissions	Vehicle Emissions affects the methylation of EYA1 gene	25560391

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0010	Activator
KW-0025	Alternative splicing
KW-0156	Chromatin regulator
KW-0963	Cytoplasm
KW-0209	Deafness
KW-0217	Developmental protein
KW-0225	Disease mutation
KW-0227	DNA damage
KW-0234	DNA repair
KW-0378	Hydrolase
KW-0460	Magnesium
KW-0991	Mental retardation
KW-0479	Metal-binding
KW-0539	Nucleus
KW-0621	Polymorphism
KW-0904	Protein phosphatase
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation
KW-0832	Ubl conjugation

Interpro

InterPro ID	InterPro Term
IPR006545	EYA_dom
IPR042577	EYA_dom_metazoan
IPR038102	EYA_dom_sf
IPR028472	EYA_fam
IPR028471	Eyes_absent_h1

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term

Gene: EYA1

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

Identified variants/mutations related to cleft phenotype

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