CleftGeneDB-Search

Gene: TSHZ1

Basic information

Tag	Content
Uniprot ID	Q6ZSZ6; O60534; Q4LE29; Q53EU4;
Entrez ID	10194
Genbank protein ID	BAD97265.1; BAE06124.1; BAC86800.1; AAC18047.1;
Genbank nucleotide ID	XM_005266641.3; NM_001308210.1; NM_005786.5;
Ensembl protein ID	ENSP00000323584; ENSP00000464391;
Ensembl nucleotide ID	ENSG00000179981
Gene name	Teashirt homolog 1
Gene symbol	TSHZ1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Probable transcriptional regulator involved in developmental processes. May act as a transcriptional repressor (Potential).
Sequence	MPRRKQQAPR RSAAYVPEEE LKAAEIDEEH VEDDGLSLDI QESEYMCNEE TEIKEAQSYQ 60 NSPVSSATNQ DAGYGSPFSE SSDQLAHFKG SSSREEKEDP QCPDSVSYPQ DSLAQIKAVY 120 ANLFSESCWS SLALDLKKSG STTSTNDASQ KESSAPTPTP PTCPVSTTGP TTSTPSTSCS 180 SSTSHSSTTS TSSSSGYDWH QAALAKTLQQ TSSYGLLPEP SLFSTVQLYR QNNKLYGSVF 240 TGASKFRCKD CSAAYDTLVE LTVHMNETGH YRDDNRDKDS EKTKRWSKPR KRSLMEMEGK 300 EDAQKVLKCM YCGHSFESLQ DLSVHMIKTK HYQKVPLKEP VPAITKLVPS TKKRALQDLA 360 PPCSPEPAGM AAEVALSESA KDQKAANPYV TPNNRYGYQN GASYTWQFEA RKAQILKCME 420 CGSSHDTLQQ LTAHMMVTGH FLKVTTSASK KGKQLVLDPV VEEKIQSIPL PPTTHTRLPA 480 SSIKKQPDSP AGSTTSEEKK EPEKEKPPVA GDAEKIKEES EDSLEKFEPS TLYPYLREED 540 LDDSPKGGLD ILKSLENTVS TAISKAQNGA PSWGGYPSIH AAYQLPGTVK PLPAAVQSVQ 600 VQPSYAGGVK SLSSAEHNAL LHSPGSLTPP PHKSNVSAME ELVEKVTGKV NIKKEERPPE 660 KEKSSLAKAA SPIAKENKDF PKTEEVSGKP QKKGPEAETG KAKKEGPLDV HTPNGTEPLK 720 AKVTNGCNNL GIIMDHSPEP SFINPLSALQ SIMNTHLGKV SKPVSPSLDP LAMLYKISNS 780 MLDKPVYPAT PVKQADAIDR YYYENSDQPI DLTKSKNKPL VSSVADSVAS PLRESALMDI 840 SDMVKNLTGR LTPKSSTPST VSEKSDADGS SFEEALDELS PVHKRKGRQS NWNPQHLLIL 900 QAQFASSLRE TTEGKYIMSD LGPQERVHIS KFTGLSMTTI SHWLANVKYQ LRRTGGTKFL 960 KNLDTGHPVF FCNDCASQFR TASTYISHLE THLGFSLKDL SKLPLNQIQE QQNVSKVLTN 1020 KTLGPLGATE EDLGSTFQCK LCNRTFASKH AVKLHLSKTH GKSPEDHLIY VTELEKQ 1077

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	TSHZ1	102179155	A0A452EVF0		Capra hircus	Prediction	More>>
1:1 ortholog	TSHZ1	10194	Q6ZSZ6		Homo sapiens	Prediction	More>>
1:1 ortholog	Tshz1	110796	Q5DTH5	CPO	Mus musculus	Publication	More>>
1:1 ortholog	TSHZ1	455478	H2QEQ4		Pan troglodytes	Prediction	More>>
1:1 ortholog	TSHZ1		F1SNN4		Sus scrofa	Prediction	More>>
1:1 ortholog	Tshz1		F1LW29		Rattus norvegicus	Prediction	More>>
1:1 ortholog	tshz1	369196	F6NU84		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1014206864	p.Gln6Arg	missense variant	-	NC_000018.10:g.75211893A>G	TOPMed
rs1251903763	p.Ala8Thr	missense variant	-	NC_000018.10:g.75211898G>A	TOPMed
rs1044316616	p.Ala8Val	missense variant	-	NC_000018.10:g.75211899C>T	TOPMed,gnomAD
rs1327426241	p.Arg11Cys	missense variant	-	NC_000018.10:g.75211907C>T	gnomAD
rs771718119	p.Val16Ile	missense variant	-	NC_000018.10:g.75285453G>A	ExAC,gnomAD
rs776866413	p.Pro17Leu	missense variant	-	NC_000018.10:g.75285457C>T	ExAC,gnomAD
rs1181857330	p.Glu20Asp	missense variant	-	NC_000018.10:g.75285467A>C	TOPMed
rs558993352	p.Lys22Asn	missense variant	-	NC_000018.10:g.75285473G>C	1000Genomes,ExAC,gnomAD
rs1196510751	p.Ala23Thr	missense variant	-	NC_000018.10:g.75285474G>A	gnomAD
rs1477640744	p.Ile26Val	missense variant	-	NC_000018.10:g.75285483A>G	gnomAD
NCI-TCGA novel	p.Asp27ArgPheSerTerUnk	frameshift	-	NC_000018.10:g.75285484_75285485insA	NCI-TCGA
RCV000359190	p.Glu29Asp	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75285494G>T	ClinVar
rs886054111	p.Glu29Asp	missense variant	-	NC_000018.10:g.75285494G>T	TOPMed,gnomAD
rs572698442	p.His30Asn	missense variant	-	NC_000018.10:g.75285495C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs763522691	p.His30Gln	missense variant	-	NC_000018.10:g.75285497C>A	ExAC,TOPMed,gnomAD
rs1452220544	p.Val31Met	missense variant	-	NC_000018.10:g.75285498G>A	TOPMed,gnomAD
rs1452220544	p.Val31Leu	missense variant	-	NC_000018.10:g.75285498G>T	TOPMed,gnomAD
rs539535971	p.Gly35Arg	missense variant	-	NC_000018.10:g.75285510G>C	ExAC,gnomAD
rs539535971	p.Gly35Arg	missense variant	-	NC_000018.10:g.75285510G>A	ExAC,gnomAD
rs750631214	p.Leu36Val	missense variant	-	NC_000018.10:g.75285513C>G	ExAC,TOPMed,gnomAD
rs934212563	p.Leu38Val	missense variant	-	NC_000018.10:g.75285519T>G	TOPMed
NCI-TCGA novel	p.Asp39His	missense variant	-	NC_000018.10:g.75285522G>C	NCI-TCGA
rs779789734	p.Ile40Val	missense variant	-	NC_000018.10:g.75285525A>G	ExAC,TOPMed,gnomAD
rs1426975071	p.Glu42Asp	missense variant	-	NC_000018.10:g.75285533A>T	TOPMed,gnomAD
RCV000407912	p.Ser43Gly	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75285534A>G	ClinVar
rs754892972	p.Ser43Ile	missense variant	-	NC_000018.10:g.75285535G>T	ExAC,gnomAD
rs78788703	p.Ser43Gly	missense variant	-	NC_000018.10:g.75285534A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778320181	p.Met46Val	missense variant	-	NC_000018.10:g.75285543A>G	ExAC,gnomAD
rs199698194	p.Met46Thr	missense variant	-	NC_000018.10:g.75285544T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu49Lys	missense variant	-	NC_000018.10:g.75285552G>A	NCI-TCGA
rs777629342	p.Thr51Met	missense variant	-	NC_000018.10:g.75285559C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ile53Met	missense variant	-	NC_000018.10:g.75285566C>G	NCI-TCGA
rs1417949037	p.Glu55Asp	missense variant	-	NC_000018.10:g.75285572G>T	gnomAD
rs375819140	p.Glu55Lys	missense variant	-	NC_000018.10:g.75285570G>A	ESP,ExAC,TOPMed,gnomAD
rs775977820	p.Ala56Val	missense variant	-	NC_000018.10:g.75285574C>T	ExAC,TOPMed,gnomAD
rs1159232588	p.Ala56Thr	missense variant	-	NC_000018.10:g.75285573G>A	gnomAD
rs775977820	p.Ala56Glu	missense variant	-	NC_000018.10:g.75285574C>A	ExAC,TOPMed,gnomAD
rs774306161	p.Gln60Arg	missense variant	-	NC_000018.10:g.75285586A>G	ExAC,gnomAD
rs1441877099	p.Ser62Pro	missense variant	-	NC_000018.10:g.75285591T>C	TOPMed,gnomAD
rs369597823	p.Pro63Ser	missense variant	-	NC_000018.10:g.75285594C>T	ESP
rs1371484603	p.Ser66Phe	missense variant	-	NC_000018.10:g.75285604C>T	gnomAD
rs543956737	p.Ala67Val	missense variant	-	NC_000018.10:g.75285607C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000364937	p.Ala67Val	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75285607C>T	ClinVar
rs1204832288	p.Gln70Leu	missense variant	-	NC_000018.10:g.75285616A>T	TOPMed
rs760860368	p.Ala72Thr	missense variant	-	NC_000018.10:g.75285621G>A	ExAC,gnomAD
rs1272273907	p.Ala72Asp	missense variant	-	NC_000018.10:g.75285622C>A	gnomAD
NCI-TCGA novel	p.Ala72Ser	missense variant	-	NC_000018.10:g.75285621G>T	NCI-TCGA
rs111929894	p.Gly73Cys	missense variant	-	NC_000018.10:g.75285624G>T	ExAC,TOPMed,gnomAD
rs192502099	p.Gly73Asp	missense variant	-	NC_000018.10:g.75285625G>A	1000Genomes
rs111929894	p.Gly73Ser	missense variant	-	NC_000018.10:g.75285624G>A	ExAC,TOPMed,gnomAD
rs754878049	p.Tyr74Cys	missense variant	-	NC_000018.10:g.75285628A>G	ExAC,gnomAD
rs752567210	p.Gly75Val	missense variant	-	NC_000018.10:g.75285631G>T	ExAC,TOPMed,gnomAD
rs764108233	p.Ser76Leu	missense variant	-	NC_000018.10:g.75285634C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ser76Thr	missense variant	-	NC_000018.10:g.75285633T>A	NCI-TCGA
rs1163485035	p.Pro77Thr	missense variant	-	NC_000018.10:g.75285636C>A	gnomAD
rs757996727	p.Ser79Asn	missense variant	-	NC_000018.10:g.75285643G>A	ExAC,gnomAD
rs777386558	p.Ser81Asn	missense variant	-	NC_000018.10:g.75285649G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser82Cys	missense variant	-	NC_000018.10:g.75285651A>T	NCI-TCGA
rs1461689441	p.Asp83Asn	missense variant	-	NC_000018.10:g.75285654G>A	TOPMed,gnomAD
rs1298794343	p.Gln84Arg	missense variant	-	NC_000018.10:g.75285658A>G	gnomAD
rs1382110343	p.Gln84Lys	missense variant	-	NC_000018.10:g.75285657C>A	TOPMed
rs756922800	p.Ala86Thr	missense variant	-	NC_000018.10:g.75285663G>A	ExAC,gnomAD
rs1412847972	p.Ala86Val	missense variant	-	NC_000018.10:g.75285664C>T	gnomAD
rs749606436	p.Lys89Gln	missense variant	-	NC_000018.10:g.75285672A>C	ExAC,gnomAD
rs1270652856	p.Gly90Cys	missense variant	-	NC_000018.10:g.75285675G>T	TOPMed,gnomAD
rs748571677	p.Ser92Pro	missense variant	-	NC_000018.10:g.75285681T>C	ExAC,TOPMed,gnomAD
rs565073733	p.Ser93Thr	missense variant	-	NC_000018.10:g.75285684T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs565073733	p.Ser93Pro	missense variant	-	NC_000018.10:g.75285684T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs200092409	p.Arg94Gln	missense variant	-	NC_000018.10:g.75285688G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs200092409	p.Arg94Pro	missense variant	-	NC_000018.10:g.75285688G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs377578290	p.Glu95Lys	missense variant	-	NC_000018.10:g.75285690G>A	ESP,TOPMed
rs766523765	p.Lys97Glu	missense variant	-	NC_000018.10:g.75285696A>G	ExAC,gnomAD
rs1190450313	p.Asp99Ala	missense variant	-	NC_000018.10:g.75285703A>C	gnomAD
rs776426456	p.Asp99Tyr	missense variant	-	NC_000018.10:g.75285702G>T	ExAC,gnomAD
rs368756235	p.Pro100Leu	missense variant	-	NC_000018.10:g.75285706C>T	ESP,ExAC,TOPMed,gnomAD
rs1231450058	p.Gln101Lys	missense variant	-	NC_000018.10:g.75285708C>A	TOPMed
rs1171469082	p.Gln101Arg	missense variant	-	NC_000018.10:g.75285709A>G	gnomAD
NCI-TCGA novel	p.Gln101His	missense variant	-	NC_000018.10:g.75285710G>T	NCI-TCGA
rs758247368	p.Cys102Tyr	missense variant	-	NC_000018.10:g.75285712G>A	ExAC,gnomAD
RCV000325232	p.Cys102Gly	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75285711T>G	ClinVar
rs886054112	p.Cys102Gly	missense variant	-	NC_000018.10:g.75285711T>G	-
rs1432872978	p.Pro103Thr	missense variant	-	NC_000018.10:g.75285714C>A	gnomAD
rs547216461	p.Asp104Asn	missense variant	-	NC_000018.10:g.75285717G>A	1000Genomes,ExAC,gnomAD
rs377724189	p.Val106Ile	missense variant	-	NC_000018.10:g.75285723G>A	ESP,ExAC,TOPMed,gnomAD
COSM3527626	p.Ser107Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75285726T>A	NCI-TCGA Cosmic
rs745502104	p.Ser107Leu	missense variant	-	NC_000018.10:g.75285727C>T	ExAC,TOPMed,gnomAD
rs1002771160	p.Pro109Ser	missense variant	-	NC_000018.10:g.75285732C>T	TOPMed
rs1002771160	p.Pro109Ala	missense variant	-	NC_000018.10:g.75285732C>G	TOPMed
rs909980531	p.Leu113Gln	missense variant	-	NC_000018.10:g.75285745T>A	TOPMed
NCI-TCGA novel	p.Ala114Ser	missense variant	-	NC_000018.10:g.75285747G>T	NCI-TCGA
rs748707722	p.Gln115Arg	missense variant	-	NC_000018.10:g.75285751A>G	ExAC,gnomAD
rs1280445395	p.Gln115His	missense variant	-	NC_000018.10:g.75285752G>C	gnomAD
rs772525249	p.Ile116Val	missense variant	-	NC_000018.10:g.75285753A>G	ExAC,gnomAD
rs149872994	p.Lys117Thr	missense variant	-	NC_000018.10:g.75285757A>C	ESP
NCI-TCGA novel	p.Ala118Val	missense variant	-	NC_000018.10:g.75285760C>T	NCI-TCGA
rs747035582	p.Tyr120Ser	missense variant	-	NC_000018.10:g.75285766A>C	ExAC,gnomAD
rs747035582	p.Tyr120Cys	missense variant	-	NC_000018.10:g.75285766A>G	ExAC,gnomAD
rs1421870612	p.Asn122Ser	missense variant	-	NC_000018.10:g.75285772A>G	gnomAD
rs961736592	p.Asn122Asp	missense variant	-	NC_000018.10:g.75285771A>G	TOPMed,gnomAD
rs1452836402	p.Phe124Leu	missense variant	-	NC_000018.10:g.75285779C>A	gnomAD
rs371623190	p.Glu126Lys	missense variant	-	NC_000018.10:g.75285783G>A	ESP,ExAC,TOPMed,gnomAD
rs1445214276	p.Cys128Ser	missense variant	-	NC_000018.10:g.75285790G>C	gnomAD
NCI-TCGA novel	p.Ser131Ile	missense variant	-	NC_000018.10:g.75285799G>T	NCI-TCGA
rs775100022	p.Ala133Val	missense variant	-	NC_000018.10:g.75285805C>T	ExAC,gnomAD
rs1344549331	p.Leu134Val	missense variant	-	NC_000018.10:g.75285807C>G	gnomAD
rs1431108643	p.Asp135Tyr	missense variant	-	NC_000018.10:g.75285810G>T	gnomAD
rs762980310	p.Leu136Phe	missense variant	-	NC_000018.10:g.75285815A>C	ExAC,gnomAD
rs764058077	p.Lys137Glu	missense variant	-	NC_000018.10:g.75285816A>G	ExAC,gnomAD
rs202178783	p.Ser139Leu	missense variant	-	NC_000018.10:g.75285823C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs767104492	p.Ser141Cys	missense variant	-	NC_000018.10:g.75285829C>G	ExAC,TOPMed,gnomAD
rs755669818	p.Thr142Pro	missense variant	-	NC_000018.10:g.75285831A>C	ExAC,gnomAD
rs779363710	p.Thr142Ile	missense variant	-	NC_000018.10:g.75285832C>T	ExAC,TOPMed,gnomAD
rs779363710	p.Thr142Ser	missense variant	-	NC_000018.10:g.75285832C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser144Asn	missense variant	-	NC_000018.10:g.75285838G>A	NCI-TCGA
NCI-TCGA novel	p.Thr145Ser	missense variant	-	NC_000018.10:g.75285841C>G	NCI-TCGA
rs747514228	p.Asn146Ser	missense variant	-	NC_000018.10:g.75285844A>G	ExAC,gnomAD
rs781109773	p.Asp147Asn	missense variant	-	NC_000018.10:g.75285846G>A	ExAC,gnomAD
rs866569267	p.Ala148Val	missense variant	-	NC_000018.10:g.75285850C>T	gnomAD
rs866569267	p.Ala148Asp	missense variant	-	NC_000018.10:g.75285850C>A	gnomAD
rs1306985734	p.Ala148Thr	missense variant	-	NC_000018.10:g.75285849G>A	gnomAD
rs1407106902	p.Ser149Ile	missense variant	-	NC_000018.10:g.75285853G>T	TOPMed,gnomAD
rs1407106902	p.Ser149Thr	missense variant	-	NC_000018.10:g.75285853G>C	TOPMed,gnomAD
rs769868532	p.Ala155Thr	missense variant	-	NC_000018.10:g.75285870G>A	ExAC,TOPMed
rs775361847	p.Ala155Val	missense variant	-	NC_000018.10:g.75285871C>T	ExAC,TOPMed,gnomAD
RCV000330866	p.Pro156Thr	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75285873C>A	ClinVar
rs774469127	p.Pro156Leu	missense variant	-	NC_000018.10:g.75285874C>T	ExAC,gnomAD
rs138506259	p.Pro156Ala	missense variant	-	NC_000018.10:g.75285873C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138506259	p.Pro156Thr	missense variant	-	NC_000018.10:g.75285873C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200439069	p.Thr157Asn	missense variant	-	NC_000018.10:g.75285877C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs761820099	p.Thr157Pro	missense variant	-	NC_000018.10:g.75285876A>C	ExAC,TOPMed,gnomAD
rs200439069	p.Thr157Ile	missense variant	-	NC_000018.10:g.75285877C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs761820099	p.Thr157Ala	missense variant	-	NC_000018.10:g.75285876A>G	ExAC,TOPMed,gnomAD
rs934396009	p.Pro158Ser	missense variant	-	NC_000018.10:g.75285879C>T	TOPMed
rs760376340	p.Thr159Pro	missense variant	-	NC_000018.10:g.75285882A>C	ExAC,TOPMed,gnomAD
rs753518063	p.Pro160Ser	missense variant	-	NC_000018.10:g.75285885C>T	ExAC,gnomAD
rs778084273	p.Pro161Arg	missense variant	-	NC_000018.10:g.75285889C>G	ExAC
rs202032549	p.Pro161Ser	missense variant	-	NC_000018.10:g.75285888C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs745870098	p.Thr162Pro	missense variant	-	NC_000018.10:g.75285891A>C	ExAC,TOPMed,gnomAD
rs1234528553	p.Cys163Arg	missense variant	-	NC_000018.10:g.75285894T>C	gnomAD
rs373873766	p.Val165Phe	missense variant	-	NC_000018.10:g.75285900G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs373873766	p.Val165Ile	missense variant	-	NC_000018.10:g.75285900G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs373873766	p.Val165Leu	missense variant	-	NC_000018.10:g.75285900G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1453570708	p.Val165Ala	missense variant	-	NC_000018.10:g.75285901T>C	gnomAD
rs1232421520	p.Ser166Arg	missense variant	-	NC_000018.10:g.75285903A>C	gnomAD
rs1470452735	p.Ser166Thr	missense variant	-	NC_000018.10:g.75285904G>C	gnomAD
rs1022888877	p.Thr167Ile	missense variant	-	NC_000018.10:g.75285907C>T	TOPMed
rs1415372936	p.Thr167Pro	missense variant	-	NC_000018.10:g.75285906A>C	gnomAD
rs1165423281	p.Thr168Pro	missense variant	-	NC_000018.10:g.75285909A>C	gnomAD
rs112669427	p.Thr168Ile	missense variant	-	NC_000018.10:g.75285910C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000281581	p.Thr168Ile	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75285910C>T	ClinVar
RCV000434334	p.Thr168Ile	missense variant	-	NC_000018.10:g.75285910C>T	ClinVar
rs1335905120	p.Gly169Ala	missense variant	-	NC_000018.10:g.75285913G>C	gnomAD
rs1327568940	p.Gly169Arg	missense variant	-	NC_000018.10:g.75285912G>C	gnomAD
rs1290693420	p.Pro170Leu	missense variant	-	NC_000018.10:g.75285916C>T	gnomAD
rs1354118519	p.Thr171Pro	missense variant	-	NC_000018.10:g.75285918A>C	gnomAD
rs961482761	p.Thr172Met	missense variant	-	NC_000018.10:g.75285922C>T	TOPMed,gnomAD
rs771834081	p.Thr174Lys	missense variant	-	NC_000018.10:g.75285928C>A	ExAC,TOPMed,gnomAD
rs771834081	p.Thr174Met	missense variant	-	NC_000018.10:g.75285928C>T	ExAC,TOPMed,gnomAD
rs1184449769	p.Ser176Asn	missense variant	-	NC_000018.10:g.75285934G>A	TOPMed,gnomAD
rs1184449769	p.Ser176Thr	missense variant	-	NC_000018.10:g.75285934G>C	TOPMed,gnomAD
rs1255274204	p.Thr177Ala	missense variant	-	NC_000018.10:g.75285936A>G	gnomAD
rs765912311	p.Thr177Ser	missense variant	-	NC_000018.10:g.75285937C>G	ExAC,gnomAD
rs955528521	p.Ser178Arg	missense variant	-	NC_000018.10:g.75285941C>G	TOPMed
rs776308822	p.Cys179Phe	missense variant	-	NC_000018.10:g.75285943G>T	ExAC,TOPMed,gnomAD
rs12970790	p.Cys179Arg	missense variant	-	NC_000018.10:g.75285942T>C	gnomAD
rs12970790	p.Cys179Ser	missense variant	-	NC_000018.10:g.75285942T>A	gnomAD
rs776308822	p.Cys179Tyr	missense variant	-	NC_000018.10:g.75285943G>A	ExAC,TOPMed,gnomAD
rs1474220621	p.Ser180Gly	missense variant	-	NC_000018.10:g.75285945A>G	gnomAD
rs1431033104	p.Ser182Asn	missense variant	-	NC_000018.10:g.75285952G>A	gnomAD
rs201448115	p.Ser182Gly	missense variant	-	NC_000018.10:g.75285951A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000372806	p.Ser182Gly	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75285951A>G	ClinVar
rs764464385	p.Thr183Pro	missense variant	-	NC_000018.10:g.75285954A>C	ExAC,gnomAD
rs545911090	p.Ser184Asn	missense variant	-	NC_000018.10:g.75285958G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs181619760	p.Thr188Ala	missense variant	-	NC_000018.10:g.75285969A>G	1000Genomes,ExAC,gnomAD
rs750935368	p.Thr188Ser	missense variant	-	NC_000018.10:g.75285970C>G	ExAC,TOPMed,gnomAD
rs1340364608	p.Ser190Cys	missense variant	-	NC_000018.10:g.75285975A>T	gnomAD
rs1207327266	p.Ser190Asn	missense variant	-	NC_000018.10:g.75285976G>A	gnomAD
rs377076476	p.Ser192Cys	missense variant	-	NC_000018.10:g.75285981A>T	ESP,TOPMed
rs749539839	p.Ser192Thr	missense variant	-	NC_000018.10:g.75285982G>C	ExAC,gnomAD
rs1257997947	p.Ser193Ile	missense variant	-	NC_000018.10:g.75285985G>T	gnomAD
rs1445009874	p.Ser193Arg	missense variant	-	NC_000018.10:g.75285986C>G	gnomAD
rs779759428	p.Ser194Arg	missense variant	-	NC_000018.10:g.75285989C>G	gnomAD
rs778854634	p.Gly196Arg	missense variant	-	NC_000018.10:g.75285993G>C	ExAC,TOPMed,gnomAD
rs771885466	p.Gly196Glu	missense variant	-	NC_000018.10:g.75285994G>A	ExAC,TOPMed,gnomAD
rs771885466	p.Gly196Ala	missense variant	-	NC_000018.10:g.75285994G>C	ExAC,TOPMed,gnomAD
rs778854634	p.Gly196Arg	missense variant	-	NC_000018.10:g.75285993G>A	ExAC,TOPMed,gnomAD
rs770397134	p.Asp198Asn	missense variant	-	NC_000018.10:g.75285999G>A	ExAC,gnomAD
NCI-TCGA novel	p.Trp199Cys	missense variant	-	NC_000018.10:g.75286004G>C	NCI-TCGA
NCI-TCGA novel	p.His200Asn	missense variant	-	NC_000018.10:g.75286005C>A	NCI-TCGA
rs1404996531	p.Ala202Gly	missense variant	-	NC_000018.10:g.75286012C>G	gnomAD
rs759222660	p.Leu204Met	missense variant	-	NC_000018.10:g.75286017C>A	ExAC,gnomAD
rs1419873896	p.Ala205Ser	missense variant	-	NC_000018.10:g.75286020G>T	TOPMed
NCI-TCGA novel	p.Lys206Ter	stop gained	-	NC_000018.10:g.75286023A>T	NCI-TCGA
rs150393290	p.Thr207Met	missense variant	-	NC_000018.10:g.75286027C>T	ESP,ExAC,TOPMed,gnomAD
rs1347322347	p.Gln209Ter	stop gained	-	NC_000018.10:g.75286032C>T	gnomAD
rs1235137155	p.Gln209His	missense variant	-	NC_000018.10:g.75286034G>T	gnomAD
rs750938876	p.Thr211Ala	missense variant	-	NC_000018.10:g.75286038A>G	ExAC,gnomAD
rs756592040	p.Thr211Met	missense variant	-	NC_000018.10:g.75286039C>T	ExAC,gnomAD
NCI-TCGA novel	p.Thr211Ser	missense variant	-	NC_000018.10:g.75286038A>T	NCI-TCGA
rs755263657	p.Ser213Leu	missense variant	-	NC_000018.10:g.75286045C>T	ExAC,TOPMed,gnomAD
rs752961161	p.Tyr214Cys	missense variant	-	NC_000018.10:g.75286048A>G	ExAC,gnomAD
rs1257530290	p.Tyr214His	missense variant	-	NC_000018.10:g.75286047T>C	gnomAD
rs1454286177	p.Gly215Arg	missense variant	-	NC_000018.10:g.75286050G>A	gnomAD
rs1288344570	p.Gly215Glu	missense variant	-	NC_000018.10:g.75286051G>A	gnomAD
rs1379833627	p.Leu217His	missense variant	-	NC_000018.10:g.75286057T>A	TOPMed,gnomAD
rs773607044	p.Glu219Gln	missense variant	-	NC_000018.10:g.75286062G>C	gnomAD
rs1389926385	p.Ser221Gly	missense variant	-	NC_000018.10:g.75286068A>G	gnomAD
rs1324068999	p.Leu222Pro	missense variant	-	NC_000018.10:g.75286072T>C	gnomAD
rs1387386021	p.Phe223Cys	missense variant	-	NC_000018.10:g.75286075T>G	gnomAD
rs1303527933	p.Phe223Leu	missense variant	-	NC_000018.10:g.75286076C>G	gnomAD
rs1298247199	p.Ser224Gly	missense variant	-	NC_000018.10:g.75286077A>G	TOPMed
rs1261089061	p.Val226Met	missense variant	-	NC_000018.10:g.75286083G>A	TOPMed,gnomAD
rs769283757	p.Leu228His	missense variant	-	NC_000018.10:g.75286090T>A	ExAC,gnomAD
rs549948739	p.Tyr229His	missense variant	-	NC_000018.10:g.75286092T>C	1000Genomes,ExAC,gnomAD
rs201310318	p.Arg230Gly	missense variant	-	NC_000018.10:g.75286095C>G	ExAC,TOPMed,gnomAD
rs201310318	p.Arg230Cys	missense variant	-	NC_000018.10:g.75286095C>T	ExAC,TOPMed,gnomAD
rs146152419	p.Arg230His	missense variant	-	NC_000018.10:g.75286096G>A	ESP,ExAC,TOPMed,gnomAD
rs761091881	p.Asn233Asp	missense variant	-	NC_000018.10:g.75286104A>G	ExAC,gnomAD
rs1372010188	p.Asn233Lys	missense variant	-	NC_000018.10:g.75286106C>G	TOPMed,gnomAD
rs1181795634	p.Asn233Ser	missense variant	-	NC_000018.10:g.75286105A>G	gnomAD
rs1461987765	p.Lys234Gln	missense variant	-	NC_000018.10:g.75286107A>C	TOPMed,gnomAD
COSM3970627	p.Gly237Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75286117G>A	NCI-TCGA Cosmic
rs1459094333	p.Gly237Ser	missense variant	-	NC_000018.10:g.75286116G>A	gnomAD
COSM438386	p.Ser238Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75286120C>T	NCI-TCGA Cosmic
rs140202650	p.Val239Ile	missense variant	-	NC_000018.10:g.75286122G>A	ESP,ExAC,TOPMed,gnomAD
rs1458648518	p.Phe240Val	missense variant	-	NC_000018.10:g.75286125T>G	gnomAD
rs551915700	p.Thr241Met	missense variant	-	NC_000018.10:g.75286129C>T	1000Genomes,ExAC,gnomAD
rs551915700	p.Thr241Lys	missense variant	-	NC_000018.10:g.75286129C>A	1000Genomes,ExAC,gnomAD
rs757158510	p.Ala243Ser	missense variant	-	NC_000018.10:g.75286134G>T	ExAC,TOPMed,gnomAD
rs757158510	p.Ala243Thr	missense variant	-	NC_000018.10:g.75286134G>A	ExAC,TOPMed,gnomAD
rs368121980	p.Ser244Ile	missense variant	-	NC_000018.10:g.75286138G>T	ESP,TOPMed
rs1352257685	p.Lys245Gln	missense variant	-	NC_000018.10:g.75286140A>C	gnomAD
rs776951771	p.Arg247Gln	missense variant	-	NC_000018.10:g.75286147G>A	ExAC,TOPMed,gnomAD
rs781166444	p.Arg247Trp	missense variant	-	NC_000018.10:g.75286146C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg247Leu	missense variant	-	NC_000018.10:g.75286147G>T	NCI-TCGA
COSM1389751	p.Lys249ArgPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.75286152_75286153AA>-	NCI-TCGA Cosmic
COSM115706	p.Ser252Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75286161A>T	NCI-TCGA Cosmic
rs1321918679	p.Ser252Arg	missense variant	-	NC_000018.10:g.75286163T>G	gnomAD
rs748921103	p.Asp256Asn	missense variant	-	NC_000018.10:g.75286173G>A	ExAC,TOPMed,gnomAD
rs1302703847	p.Thr257Met	missense variant	-	NC_000018.10:g.75286177C>T	TOPMed
rs760100606	p.Thr262Met	missense variant	-	NC_000018.10:g.75286192C>T	ExAC
COSM1325578	p.His264Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75286198A>G	NCI-TCGA Cosmic
rs763094006	p.Met265Ile	missense variant	-	NC_000018.10:g.75286202G>A	ExAC,gnomAD
rs751720440	p.Glu267Lys	missense variant	-	NC_000018.10:g.75286206G>A	ExAC,gnomAD
rs1372274658	p.Thr268Ile	missense variant	-	NC_000018.10:g.75286210C>T	TOPMed,gnomAD
rs1412905140	p.Gly269Ala	missense variant	-	NC_000018.10:g.75286213G>C	gnomAD
rs1430952020	p.His270Arg	missense variant	-	NC_000018.10:g.75286216A>G	TOPMed
COSM1389752	p.Arg272Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75286222G>T	NCI-TCGA Cosmic
rs1292447374	p.Arg272Cys	missense variant	-	NC_000018.10:g.75286221C>T	gnomAD
rs568766536	p.Arg272His	missense variant	-	NC_000018.10:g.75286222G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1229838992	p.Asp273Tyr	missense variant	-	NC_000018.10:g.75286224G>T	gnomAD
rs750380313	p.Asp274Asn	missense variant	-	NC_000018.10:g.75286227G>A	ExAC,TOPMed,gnomAD
rs202083605	p.Asp277His	missense variant	-	NC_000018.10:g.75286236G>C	ExAC,gnomAD
COSM989928	p.Lys278Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75286241G>T	NCI-TCGA Cosmic
rs1213497383	p.Lys278Glu	missense variant	-	NC_000018.10:g.75286239A>G	TOPMed
NCI-TCGA novel	p.Asp279Gly	missense variant	-	NC_000018.10:g.75286243A>G	NCI-TCGA
rs1209433853	p.Ser280Phe	missense variant	-	NC_000018.10:g.75286246C>T	gnomAD
rs1348822867	p.Ser280Pro	missense variant	-	NC_000018.10:g.75286245T>C	TOPMed
rs778692508	p.Glu281Gln	missense variant	-	NC_000018.10:g.75286248G>C	ExAC,gnomAD
rs778692508	p.Glu281Lys	missense variant	-	NC_000018.10:g.75286248G>A	ExAC,gnomAD
rs1183966876	p.Glu281Asp	missense variant	-	NC_000018.10:g.75286250G>C	gnomAD
rs372615647	p.Lys284Arg	missense variant	-	NC_000018.10:g.75286258A>G	ESP,ExAC,TOPMed,gnomAD
rs1169274249	p.Arg285Lys	missense variant	-	NC_000018.10:g.75286261G>A	gnomAD
RCV000024185	p.Trp286Ter	nonsense	Aural atresia, congenital (CAA)	NC_000018.10:g.75286265G>A	ClinVar
rs730882070	p.Trp286Ter	stop gained	Aural atresia, congenital (caa)	NC_000018.10:g.75286265G>A	-
rs1214005492	p.Ser287Thr	missense variant	-	NC_000018.10:g.75286266T>A	gnomAD
COSM4073292	p.Arg292Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75286281C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg292His	missense variant	-	NC_000018.10:g.75286282G>A	NCI-TCGA
NCI-TCGA novel	p.Ser293Phe	missense variant	-	NC_000018.10:g.75286285C>T	NCI-TCGA
rs1428649136	p.Met297Leu	missense variant	-	NC_000018.10:g.75286296A>T	TOPMed,gnomAD
rs1007076618	p.Met297Ile	missense variant	-	NC_000018.10:g.75286298G>A	TOPMed
rs770358957	p.Glu298Asp	missense variant	-	NC_000018.10:g.75286301G>T	ExAC,gnomAD
rs1286925513	p.Lys300Thr	missense variant	-	NC_000018.10:g.75286306A>C	gnomAD
rs1360813028	p.Glu301Lys	missense variant	-	NC_000018.10:g.75286308G>A	gnomAD
rs1172693132	p.Gln304Glu	missense variant	-	NC_000018.10:g.75286317C>G	TOPMed
rs763155351	p.Cys309Tyr	missense variant	-	NC_000018.10:g.75286333G>A	ExAC,gnomAD
rs1232945806	p.Met310Val	missense variant	-	NC_000018.10:g.75286335A>G	TOPMed,gnomAD
rs1278450624	p.Tyr311Cys	missense variant	-	NC_000018.10:g.75286339A>G	gnomAD
NCI-TCGA novel	p.Tyr311Phe	missense variant	-	NC_000018.10:g.75286339A>T	NCI-TCGA
rs375914464	p.Cys312Tyr	missense variant	-	NC_000018.10:g.75286342G>A	ESP,TOPMed,gnomAD
rs774676680	p.His314Arg	missense variant	-	NC_000018.10:g.75286348A>G	ExAC
rs762943761	p.His314Tyr	missense variant	-	NC_000018.10:g.75286347C>T	ExAC,gnomAD
rs200766154	p.Ser315Thr	missense variant	-	NC_000018.10:g.75286350T>A	1000Genomes,ExAC,gnomAD
rs754555813	p.Met326Val	missense variant	-	NC_000018.10:g.75286383A>G	ExAC,gnomAD
rs778262740	p.Lys330Arg	missense variant	-	NC_000018.10:g.75286396A>G	ExAC,TOPMed,gnomAD
rs927112246	p.Tyr332Asp	missense variant	-	NC_000018.10:g.75286401T>G	TOPMed
rs758085480	p.Gln333Arg	missense variant	-	NC_000018.10:g.75286405A>G	ExAC,gnomAD
NCI-TCGA novel	p.Gln333Leu	missense variant	-	NC_000018.10:g.75286405A>T	NCI-TCGA
rs1261433402	p.Val335Leu	missense variant	-	NC_000018.10:g.75286410G>T	TOPMed
rs1368886222	p.Val341Met	missense variant	-	NC_000018.10:g.75286428G>A	gnomAD
rs1282584271	p.Ala343Thr	missense variant	-	NC_000018.10:g.75286434G>A	gnomAD
rs1316228842	p.Ile344Ser	missense variant	-	NC_000018.10:g.75286438T>G	TOPMed
rs1328847317	p.Thr345Pro	missense variant	-	NC_000018.10:g.75286440A>C	gnomAD
COSM3891339	p.Pro349Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75286453C>T	NCI-TCGA Cosmic
rs1209758262	p.Pro349Arg	missense variant	-	NC_000018.10:g.75286453C>G	gnomAD
rs1417628031	p.Pro349Ser	missense variant	-	NC_000018.10:g.75286452C>T	gnomAD
rs1467327038	p.Thr351Asn	missense variant	-	NC_000018.10:g.75286459C>A	TOPMed,gnomAD
rs1467327038	p.Thr351Ile	missense variant	-	NC_000018.10:g.75286459C>T	TOPMed,gnomAD
rs1311867732	p.Lys352Arg	missense variant	-	NC_000018.10:g.75286462A>G	TOPMed
RCV000308146	p.Arg354Trp	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75286467C>T	ClinVar
rs768800266	p.Arg354Gln	missense variant	-	NC_000018.10:g.75286468G>A	ExAC,TOPMed,gnomAD
rs144240769	p.Arg354Trp	missense variant	-	NC_000018.10:g.75286467C>T	ESP,ExAC,TOPMed,gnomAD
rs774253030	p.Ala355Val	missense variant	-	NC_000018.10:g.75286471C>T	ExAC,TOPMed,gnomAD
rs767665954	p.Gln357Lys	missense variant	-	NC_000018.10:g.75286476C>A	ExAC,gnomAD
rs773409617	p.Leu359Gln	missense variant	-	NC_000018.10:g.75286483T>A	ExAC,gnomAD
rs760530875	p.Ala360Val	missense variant	-	NC_000018.10:g.75286486C>T	ExAC,gnomAD
rs372094271	p.Pro361Ser	missense variant	-	NC_000018.10:g.75286488C>T	ESP,ExAC,TOPMed,gnomAD
rs759344933	p.Pro361Leu	missense variant	-	NC_000018.10:g.75286489C>T	ExAC,TOPMed,gnomAD
rs759344933	p.Pro361His	missense variant	-	NC_000018.10:g.75286489C>A	ExAC,TOPMed,gnomAD
RCV000024184	p.Pro361Ter	frameshift	Aural atresia, congenital (CAA)	NC_000018.10:g.75286488_75286489insA	ClinVar
rs1185658846	p.Pro362Ser	missense variant	-	NC_000018.10:g.75286491C>T	TOPMed
rs764835885	p.Pro362Leu	missense variant	-	NC_000018.10:g.75286492C>T	ExAC,gnomAD
rs764835885	p.Pro362Arg	missense variant	-	NC_000018.10:g.75286492C>G	ExAC,gnomAD
COSM296533	p.Cys363AlaPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.75286488C>-	NCI-TCGA Cosmic
rs1332306099	p.Cys363Tyr	missense variant	-	NC_000018.10:g.75286495G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Cys363LeuPheSerTerUnk	frameshift	-	NC_000018.10:g.75286487_75286488insC	NCI-TCGA
rs1262731889	p.Pro367Ser	missense variant	-	NC_000018.10:g.75286506C>T	TOPMed
COSM708926	p.Gly369Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75286513G>T	NCI-TCGA Cosmic
rs751256498	p.Met370Thr	missense variant	-	NC_000018.10:g.75286516T>C	ExAC,TOPMed,gnomAD
rs751256498	p.Met370Lys	missense variant	-	NC_000018.10:g.75286516T>A	ExAC,TOPMed,gnomAD
rs371279015	p.Met370Val	missense variant	-	NC_000018.10:g.75286515A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1382059595	p.Ala371Gly	missense variant	-	NC_000018.10:g.75286519C>G	TOPMed,gnomAD
rs1382059595	p.Ala371Val	missense variant	-	NC_000018.10:g.75286519C>T	TOPMed,gnomAD
rs749830078	p.Ala372Val	missense variant	-	NC_000018.10:g.75286522C>T	ExAC,gnomAD
rs574385316	p.Ala372Thr	missense variant	-	NC_000018.10:g.75286521G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu373Asp	missense variant	-	NC_000018.10:g.75286526G>T	NCI-TCGA
NCI-TCGA novel	p.Glu373Gln	missense variant	-	NC_000018.10:g.75286524G>C	NCI-TCGA
rs768974519	p.Val374Met	missense variant	-	NC_000018.10:g.75286527G>A	ExAC,gnomAD
rs778973516	p.Ala375Thr	missense variant	-	NC_000018.10:g.75286530G>A	ExAC,TOPMed,gnomAD
rs1453340173	p.Ala375Val	missense variant	-	NC_000018.10:g.75286531C>T	gnomAD
rs778973516	p.Ala375Ser	missense variant	-	NC_000018.10:g.75286530G>T	ExAC,TOPMed,gnomAD
COSM474044	p.Glu378Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75286539G>A	NCI-TCGA Cosmic
rs772133866	p.Glu378Gln	missense variant	-	NC_000018.10:g.75286539G>C	ExAC,gnomAD
COSM6149029	p.Asp382His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75286551G>C	NCI-TCGA Cosmic
rs770781498	p.Asp382Val	missense variant	-	NC_000018.10:g.75286552A>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp382Asn	missense variant	-	NC_000018.10:g.75286551G>A	NCI-TCGA
rs776251738	p.Gln383Lys	missense variant	-	NC_000018.10:g.75286554C>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln383His	missense variant	-	NC_000018.10:g.75286556G>T	NCI-TCGA
rs759524342	p.Lys384Arg	missense variant	-	NC_000018.10:g.75286558A>G	ExAC,gnomAD
rs1007375979	p.Ala386Val	missense variant	-	NC_000018.10:g.75286564C>T	TOPMed
rs765027625	p.Ala386Thr	missense variant	-	NC_000018.10:g.75286563G>A	ExAC,TOPMed,gnomAD
rs1238757048	p.Asn387Ser	missense variant	-	NC_000018.10:g.75286567A>G	gnomAD
rs200266026	p.Pro388Ser	missense variant	-	NC_000018.10:g.75286569C>T	ExAC,TOPMed,gnomAD
rs762622920	p.Pro388Leu	missense variant	-	NC_000018.10:g.75286570C>T	ExAC,TOPMed,gnomAD
RCV000313842	p.Pro388Ser	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75286569C>T	ClinVar
rs1161784091	p.Tyr389His	missense variant	-	NC_000018.10:g.75286572T>C	TOPMed
RCV000274409	p.Val390Ile	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75286575G>A	ClinVar
rs780468421	p.Val390Asp	missense variant	-	NC_000018.10:g.75286576T>A	ExAC,gnomAD
rs145008445	p.Val390Leu	missense variant	-	NC_000018.10:g.75286575G>C	ESP,ExAC,TOPMed,gnomAD
rs145008445	p.Val390Ile	missense variant	-	NC_000018.10:g.75286575G>A	ESP,ExAC,TOPMed,gnomAD
rs754088993	p.Thr391Met	missense variant	-	NC_000018.10:g.75286579C>T	ExAC,gnomAD
rs1358777817	p.Pro392Ser	missense variant	-	NC_000018.10:g.75286581C>T	gnomAD
rs1358777817	p.Pro392Ala	missense variant	-	NC_000018.10:g.75286581C>G	gnomAD
rs1274071911	p.Asn393Ser	missense variant	-	NC_000018.10:g.75286585A>G	gnomAD
rs956928502	p.Arg395Cys	missense variant	-	NC_000018.10:g.75286590C>T	TOPMed,gnomAD
rs748622384	p.Arg395His	missense variant	-	NC_000018.10:g.75286591G>A	ExAC,gnomAD
rs777780760	p.Gly397Arg	missense variant	-	NC_000018.10:g.75286596G>C	ExAC,gnomAD
rs770993914	p.Tyr398Ter	stop gained	-	NC_000018.10:g.75286601C>A	ExAC
rs1369793405	p.Gln399His	missense variant	-	NC_000018.10:g.75286604G>C	gnomAD
rs776499718	p.Asn400Ser	missense variant	-	NC_000018.10:g.75286606A>G	ExAC,gnomAD
rs35028697	p.Ala402Thr	missense variant	-	NC_000018.10:g.75286611G>A	ESP,ExAC,TOPMed,gnomAD
rs1170965980	p.Ala402Val	missense variant	-	NC_000018.10:g.75286612C>T	gnomAD
rs1437647186	p.Thr405Asn	missense variant	-	NC_000018.10:g.75286621C>A	gnomAD
rs1158063890	p.Glu409Lys	missense variant	-	NC_000018.10:g.75286632G>A	TOPMed,gnomAD
rs1342458618	p.Arg411His	missense variant	-	NC_000018.10:g.75286639G>A	TOPMed,gnomAD
rs148944812	p.Arg411Cys	missense variant	-	NC_000018.10:g.75286638C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148944812	p.Arg411Gly	missense variant	-	NC_000018.10:g.75286638C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM4073296	p.Ala413Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75286645C>T	NCI-TCGA Cosmic
rs1230710348	p.Gly422Asp	missense variant	-	NC_000018.10:g.75286672G>A	gnomAD
rs750082958	p.Ser423Thr	missense variant	-	NC_000018.10:g.75286675G>C	ExAC,TOPMed,gnomAD
rs997870682	p.Ser423Gly	missense variant	-	NC_000018.10:g.75286674A>G	TOPMed,gnomAD
rs376372721	p.His425Gln	missense variant	-	NC_000018.10:g.75286682C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His425Asn	missense variant	-	NC_000018.10:g.75286680C>A	NCI-TCGA
rs1025783310	p.Asp426Asn	missense variant	-	NC_000018.10:g.75286683G>A	gnomAD
rs1025783310	p.Asp426His	missense variant	-	NC_000018.10:g.75286683G>C	gnomAD
rs369060962	p.Thr427Met	missense variant	-	NC_000018.10:g.75286687C>T	ESP,TOPMed,gnomAD
rs765563523	p.Thr427Ser	missense variant	-	NC_000018.10:g.75286686A>T	ExAC,gnomAD
rs758861199	p.Leu428Arg	missense variant	-	NC_000018.10:g.75286690T>G	ExAC,gnomAD
rs747005684	p.Thr432Ile	missense variant	-	NC_000018.10:g.75286702C>T	ExAC
rs200472754	p.Ala433Val	missense variant	-	NC_000018.10:g.75286705C>T	ESP,ExAC,TOPMed,gnomAD
rs373817259	p.Ala433Thr	missense variant	-	NC_000018.10:g.75286704G>A	ESP,ExAC,TOPMed,gnomAD
rs148126168	p.Met435Ile	missense variant	-	NC_000018.10:g.75286712G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148126168	p.Met435Ile	missense variant	-	NC_000018.10:g.75286712G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1455828720	p.Met436Val	missense variant	-	NC_000018.10:g.75286713A>G	gnomAD
rs768654001	p.Gly439Arg	missense variant	-	NC_000018.10:g.75286722G>A	ExAC,TOPMed,gnomAD
rs1453890395	p.His440Asn	missense variant	-	NC_000018.10:g.75286725C>A	TOPMed
rs774327671	p.His440Pro	missense variant	-	NC_000018.10:g.75286726A>C	ExAC,gnomAD
rs767021398	p.Lys443Gln	missense variant	-	NC_000018.10:g.75286734A>C	ExAC,TOPMed,gnomAD
rs772789282	p.Thr445Ser	missense variant	-	NC_000018.10:g.75286741C>G	ExAC,gnomAD
COSM3527634	p.Thr445Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75286741C>T	NCI-TCGA Cosmic
rs1439305530	p.Thr446Asn	missense variant	-	NC_000018.10:g.75286744C>A	TOPMed
rs568803492	p.Ser447Leu	missense variant	-	NC_000018.10:g.75286747C>T	1000Genomes,ExAC,gnomAD
rs145021024	p.Lys450Arg	missense variant	-	NC_000018.10:g.75286756A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys450GluPheSerTerUnkUnk	frameshift	-	NC_000018.10:g.75286754_75286755TA>-	NCI-TCGA
rs1191181662	p.Lys451Asn	missense variant	-	NC_000018.10:g.75286760G>T	gnomAD
rs1465992697	p.Lys451Thr	missense variant	-	NC_000018.10:g.75286759A>C	gnomAD
rs757324946	p.Lys453Arg	missense variant	-	NC_000018.10:g.75286765A>G	ExAC,gnomAD
rs1379892884	p.Gln454Lys	missense variant	-	NC_000018.10:g.75286767C>A	gnomAD
rs1282026753	p.Val456Gly	missense variant	-	NC_000018.10:g.75286774T>G	TOPMed
rs201275095	p.Leu457Val	missense variant	-	NC_000018.10:g.75286776C>G	1000Genomes,ExAC,gnomAD
rs913098293	p.Asp458His	missense variant	-	NC_000018.10:g.75286779G>C	gnomAD
rs913098293	p.Asp458Asn	missense variant	-	NC_000018.10:g.75286779G>A	gnomAD
rs1006850628	p.Val460Met	missense variant	-	NC_000018.10:g.75286785G>A	TOPMed
NCI-TCGA novel	p.Glu462Lys	missense variant	-	NC_000018.10:g.75286791G>A	NCI-TCGA
rs1445054792	p.Glu463Asp	missense variant	-	NC_000018.10:g.75286796G>C	TOPMed
rs1291854230	p.Lys464Asn	missense variant	-	NC_000018.10:g.75286799G>T	gnomAD
rs200209481	p.Ser467Tyr	missense variant	-	NC_000018.10:g.75286807C>A	1000Genomes,ExAC,gnomAD
rs1032477742	p.Pro469Ala	missense variant	-	NC_000018.10:g.75286812C>G	gnomAD
rs1032477742	p.Pro469Ser	missense variant	-	NC_000018.10:g.75286812C>T	gnomAD
rs142270240	p.Pro471Leu	missense variant	-	NC_000018.10:g.75286819C>T	ESP,ExAC,TOPMed,gnomAD
rs1227501734	p.Pro472Leu	missense variant	-	NC_000018.10:g.75286822C>T	gnomAD
COSM1480469	p.His475Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75286830C>G	NCI-TCGA Cosmic
rs1330727903	p.His475Asn	missense variant	-	NC_000018.10:g.75286830C>A	gnomAD
rs1211506666	p.His475Arg	missense variant	-	NC_000018.10:g.75286831A>G	gnomAD
rs760324412	p.Thr476Met	missense variant	-	NC_000018.10:g.75286834C>T	ExAC,TOPMed,gnomAD
rs201450598	p.Arg477Trp	missense variant	-	NC_000018.10:g.75286836C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs763375361	p.Arg477Gln	missense variant	-	NC_000018.10:g.75286837G>A	ExAC,gnomAD
rs373073484	p.Pro479Leu	missense variant	-	NC_000018.10:g.75286843C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs373073484	p.Pro479Gln	missense variant	-	NC_000018.10:g.75286843C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala480Val	missense variant	-	NC_000018.10:g.75286846C>T	NCI-TCGA
rs762335678	p.Ser482Ile	missense variant	-	NC_000018.10:g.75286852G>T	ExAC,TOPMed,gnomAD
rs762335678	p.Ser482Thr	missense variant	-	NC_000018.10:g.75286852G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser482Gly	missense variant	-	NC_000018.10:g.75286851A>G	NCI-TCGA
rs1364338688	p.Lys485Arg	missense variant	-	NC_000018.10:g.75286861A>G	TOPMed
rs767528792	p.Gln486Arg	missense variant	-	NC_000018.10:g.75286864A>G	ExAC,gnomAD
rs375952442	p.Asp488Asn	missense variant	-	NC_000018.10:g.75286869G>A	ESP,ExAC,TOPMed,gnomAD
rs370337586	p.Ser489Cys	missense variant	-	NC_000018.10:g.75286873C>G	ESP,ExAC,TOPMed,gnomAD
rs370337586	p.Ser489Phe	missense variant	-	NC_000018.10:g.75286873C>T	ESP,ExAC,TOPMed,gnomAD
rs1368608444	p.Pro490His	missense variant	-	NC_000018.10:g.75286876C>A	TOPMed,gnomAD
rs754868195	p.Ala491Pro	missense variant	-	NC_000018.10:g.75286878G>C	ExAC,TOPMed,gnomAD
rs754868195	p.Ala491Thr	missense variant	-	NC_000018.10:g.75286878G>A	ExAC,TOPMed,gnomAD
rs748066897	p.Ala491Val	missense variant	-	NC_000018.10:g.75286879C>T	ExAC,TOPMed,gnomAD
COSM708924	p.Gly492Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75286882G>T	NCI-TCGA Cosmic
rs1288290484	p.Gly492Arg	missense variant	-	NC_000018.10:g.75286881G>C	TOPMed
rs1311482105	p.Ser493Phe	missense variant	-	NC_000018.10:g.75286885C>T	gnomAD
rs181573727	p.Thr494Met	missense variant	-	NC_000018.10:g.75286888C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1271911752	p.Thr495Ser	missense variant	-	NC_000018.10:g.75286891C>G	gnomAD
rs762026147	p.SerGlu496Ter	stop gained	-	NC_000018.10:g.75286894_75286896del	ExAC,gnomAD
rs1205152223	p.Glu498Gln	missense variant	-	NC_000018.10:g.75286899G>C	gnomAD
rs770425179	p.Lys500Glu	missense variant	-	NC_000018.10:g.75286905A>G	ExAC,gnomAD
rs1484204945	p.Glu501Gly	missense variant	-	NC_000018.10:g.75286909A>G	gnomAD
rs1180508098	p.Pro502Ser	missense variant	-	NC_000018.10:g.75286911C>T	gnomAD
rs776306765	p.Glu503Lys	missense variant	-	NC_000018.10:g.75286914G>A	ExAC,gnomAD
rs1166958983	p.Lys504Glu	missense variant	-	NC_000018.10:g.75286917A>G	gnomAD
rs774741979	p.Pro507Leu	missense variant	-	NC_000018.10:g.75286927C>T	ExAC,TOPMed,gnomAD
rs768927257	p.Pro507Ala	missense variant	-	NC_000018.10:g.75286926C>G	ExAC,gnomAD
RCV000316491	p.Val509Met	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75286932G>A	ClinVar
rs199588905	p.Val509Met	missense variant	-	NC_000018.10:g.75286932G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs374017862	p.Val509Glu	missense variant	-	NC_000018.10:g.75286933T>A	ESP,ExAC,TOPMed,gnomAD
rs1294756253	p.Asp512Gly	missense variant	-	NC_000018.10:g.75286942A>G	gnomAD
rs755184710	p.Asp512Asn	missense variant	-	NC_000018.10:g.75286941G>A	ExAC,gnomAD
RCV000380422	p.Ala513Thr	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75286944G>A	ClinVar
rs33930274	p.Ala513Thr	missense variant	-	NC_000018.10:g.75286944G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201058634	p.Ala513Val	missense variant	-	NC_000018.10:g.75286945C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1208428607	p.Glu514Lys	missense variant	-	NC_000018.10:g.75286947G>A	gnomAD
rs1217237239	p.Lys515Asn	missense variant	-	NC_000018.10:g.75286952G>C	TOPMed
rs370245736	p.Lys515Met	missense variant	-	NC_000018.10:g.75286951A>T	ESP,ExAC,gnomAD
rs375468249	p.Ile516Phe	missense variant	-	NC_000018.10:g.75286953A>T	ESP,ExAC,gnomAD
rs1448869172	p.Glu518Gln	missense variant	-	NC_000018.10:g.75286959G>C	gnomAD
rs748609272	p.Glu519Val	missense variant	-	NC_000018.10:g.75286963A>T	ExAC,gnomAD
rs774595432	p.Glu519Lys	missense variant	-	NC_000018.10:g.75286962G>A	ExAC,gnomAD
rs372374588	p.Ser520Arg	missense variant	-	NC_000018.10:g.75286967T>A	ESP,ExAC,gnomAD
rs372374588	p.Ser520Arg	missense variant	-	NC_000018.10:g.75286967T>G	ESP,ExAC,gnomAD
COSM4073298	p.Glu521Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75286969A>C	NCI-TCGA Cosmic
rs761213340	p.Glu521Lys	missense variant	-	NC_000018.10:g.75286968G>A	ExAC,TOPMed,gnomAD
rs761213340	p.Glu521Gln	missense variant	-	NC_000018.10:g.75286968G>C	ExAC,TOPMed,gnomAD
rs1207438508	p.Asp522Gly	missense variant	-	NC_000018.10:g.75286972A>G	TOPMed
NCI-TCGA novel	p.Pro529Thr	missense variant	-	NC_000018.10:g.75286992C>A	NCI-TCGA
rs776784661	p.Ser530Gly	missense variant	-	NC_000018.10:g.75286995A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser530Ile	missense variant	-	NC_000018.10:g.75286996G>T	NCI-TCGA
rs929914775	p.Leu532Pro	missense variant	-	NC_000018.10:g.75287002T>C	TOPMed
NCI-TCGA novel	p.Tyr533Ter	stop gained	-	NC_000018.10:g.75287006C>G	NCI-TCGA
rs771408424	p.Pro534Leu	missense variant	-	NC_000018.10:g.75287008C>T	gnomAD
rs530388914	p.Arg537Cys	missense variant	-	NC_000018.10:g.75287016C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200622384	p.Arg537His	missense variant	-	NC_000018.10:g.75287017G>A	TOPMed,gnomAD
COSM3146677	p.Glu539Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287024G>T	NCI-TCGA Cosmic
rs758255995	p.Leu541Gln	missense variant	-	NC_000018.10:g.75287029T>A	ExAC,gnomAD
rs1464655347	p.Leu541Val	missense variant	-	NC_000018.10:g.75287028C>G	gnomAD
NCI-TCGA novel	p.Asp542Tyr	missense variant	-	NC_000018.10:g.75287031G>T	NCI-TCGA
rs751522757	p.Asp543Asn	missense variant	-	NC_000018.10:g.75287034G>A	ExAC,TOPMed,gnomAD
rs1039684025	p.Ser544Asn	missense variant	-	NC_000018.10:g.75287038G>A	TOPMed,gnomAD
rs757148723	p.Ser544Cys	missense variant	-	NC_000018.10:g.75287037A>T	ExAC,gnomAD
rs780689354	p.Ser544Arg	missense variant	-	NC_000018.10:g.75287039C>A	ExAC,gnomAD
rs755572080	p.Pro545Thr	missense variant	-	NC_000018.10:g.75287040C>A	ExAC,gnomAD
COSM6083268	p.Lys546Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287045G>T	NCI-TCGA Cosmic
COSM6083266	p.Lys546Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287045G>C	NCI-TCGA Cosmic
rs779792652	p.Gly548Glu	missense variant	-	NC_000018.10:g.75287050G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly548Val	missense variant	-	NC_000018.10:g.75287050G>T	NCI-TCGA
rs1404566656	p.Leu549Val	missense variant	-	NC_000018.10:g.75287052C>G	TOPMed
COSM264233	p.Leu552Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287061C>A	NCI-TCGA Cosmic
rs1187971370	p.Lys553Arg	missense variant	-	NC_000018.10:g.75287065A>G	TOPMed
NCI-TCGA novel	p.Thr558Ile	missense variant	-	NC_000018.10:g.75287080C>T	NCI-TCGA
rs368302611	p.Val559Ile	missense variant	-	NC_000018.10:g.75287082G>A	ESP,ExAC,TOPMed,gnomAD
rs199773721	p.Thr561Met	missense variant	-	NC_000018.10:g.75287089C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs777263451	p.Ser564Arg	missense variant	-	NC_000018.10:g.75287099C>A	ExAC,gnomAD
rs759728503	p.Gly569Ala	missense variant	-	NC_000018.10:g.75287113G>C	ExAC,TOPMed,gnomAD
rs759728503	p.Gly569Asp	missense variant	-	NC_000018.10:g.75287113G>A	ExAC,TOPMed,gnomAD
rs1229305995	p.Ala570Thr	missense variant	-	NC_000018.10:g.75287115G>A	gnomAD
rs775832071	p.Ala570Val	missense variant	-	NC_000018.10:g.75287116C>T	ExAC,TOPMed,gnomAD
rs1220972618	p.Pro571Ser	missense variant	-	NC_000018.10:g.75287118C>T	gnomAD
rs1247167510	p.Ser572Thr	missense variant	-	NC_000018.10:g.75287121T>A	gnomAD
COSM4073300	p.Pro577His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287137C>A	NCI-TCGA Cosmic
rs763911616	p.Pro577Leu	missense variant	-	NC_000018.10:g.75287137C>T	ExAC,gnomAD
rs1490834977	p.Pro577Ser	missense variant	-	NC_000018.10:g.75287136C>T	TOPMed,gnomAD
rs370421851	p.His580Gln	missense variant	-	NC_000018.10:g.75287147T>G	ESP
rs892633153	p.His580Tyr	missense variant	-	NC_000018.10:g.75287145C>T	TOPMed
rs1472704026	p.Ala581Thr	missense variant	-	NC_000018.10:g.75287148G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Gln584His	missense variant	-	NC_000018.10:g.75287159G>T	NCI-TCGA
rs1404200685	p.Leu585Arg	missense variant	-	NC_000018.10:g.75287161T>G	gnomAD
rs1013669343	p.Leu585Phe	missense variant	-	NC_000018.10:g.75287160C>T	TOPMed,gnomAD
rs770073499	p.Pro586Leu	missense variant	-	NC_000018.10:g.75287164C>T	ExAC,TOPMed,gnomAD
rs779379359	p.Gly587Asp	missense variant	-	NC_000018.10:g.75287167G>A	ExAC,TOPMed,gnomAD
rs200629224	p.Val589Leu	missense variant	-	NC_000018.10:g.75287172G>C	ESP,ExAC,TOPMed,gnomAD
rs200629224	p.Val589Met	missense variant	-	NC_000018.10:g.75287172G>A	ESP,ExAC,TOPMed,gnomAD
rs200629224	p.Val589Leu	missense variant	-	NC_000018.10:g.75287172G>T	ESP,ExAC,TOPMed,gnomAD
rs1172064145	p.Lys590Asn	missense variant	-	NC_000018.10:g.75287177G>T	TOPMed
rs747435496	p.Pro591Ala	missense variant	-	NC_000018.10:g.75287178C>G	ExAC,TOPMed,gnomAD
rs370414463	p.Leu592Met	missense variant	-	NC_000018.10:g.75287181C>A	ESP,ExAC,gnomAD
rs1389196802	p.Leu592Pro	missense variant	-	NC_000018.10:g.75287182T>C	TOPMed
rs781774630	p.Pro593Leu	missense variant	-	NC_000018.10:g.75287185C>T	ExAC,TOPMed,gnomAD
rs148646353	p.Pro593Ser	missense variant	-	NC_000018.10:g.75287184C>T	ESP,gnomAD
rs1268647485	p.Ala594Thr	missense variant	-	NC_000018.10:g.75287187G>A	TOPMed
rs116096444	p.Ala594Glu	missense variant	-	NC_000018.10:g.75287188C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs116096444	p.Ala594Val	missense variant	-	NC_000018.10:g.75287188C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs775395170	p.Ala595Ser	missense variant	-	NC_000018.10:g.75287190G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala595Val	missense variant	-	NC_000018.10:g.75287191C>T	NCI-TCGA
rs774547119	p.Val596Glu	missense variant	-	NC_000018.10:g.75287194T>A	ExAC,TOPMed,gnomAD
rs774547119	p.Val596Ala	missense variant	-	NC_000018.10:g.75287194T>C	ExAC,TOPMed,gnomAD
rs139729915	p.Val596Met	missense variant	-	NC_000018.10:g.75287193G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145301120	p.Val599Met	missense variant	-	NC_000018.10:g.75287202G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1365436760	p.Gln602His	missense variant	-	NC_000018.10:g.75287213G>T	TOPMed
rs371962064	p.Gln602Arg	missense variant	-	NC_000018.10:g.75287212A>G	ESP,ExAC,TOPMed,gnomAD
rs754522600	p.Pro603Leu	missense variant	-	NC_000018.10:g.75287215C>T	ExAC,TOPMed,gnomAD
rs754522600	p.Pro603Gln	missense variant	-	NC_000018.10:g.75287215C>A	ExAC,TOPMed,gnomAD
rs757745986	p.Tyr605His	missense variant	-	NC_000018.10:g.75287220T>C	ExAC,gnomAD
rs781364196	p.Ala606Thr	missense variant	-	NC_000018.10:g.75287223G>A	ExAC,gnomAD
rs746420194	p.Ala606Val	missense variant	-	NC_000018.10:g.75287224C>T	ExAC,gnomAD
rs1197309297	p.Gly607Ser	missense variant	-	NC_000018.10:g.75287226G>A	gnomAD
COSM6083264	p.Gly608Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287229G>T	NCI-TCGA Cosmic
rs566661312	p.Gly608Ser	missense variant	-	NC_000018.10:g.75287229G>A	1000Genomes,ExAC,gnomAD
rs144455310	p.Val609Met	missense variant	-	NC_000018.10:g.75287232G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1447093421	p.Ser611Leu	missense variant	-	NC_000018.10:g.75287239C>T	TOPMed,gnomAD
rs975396803	p.Ser613Phe	missense variant	-	NC_000018.10:g.75287245C>T	TOPMed
rs140828986	p.Ser614Cys	missense variant	-	NC_000018.10:g.75287248C>G	ESP,ExAC,TOPMed,gnomAD
rs149729975	p.Ala615Ser	missense variant	-	NC_000018.10:g.75287250G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000345923	p.Ala615Thr	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75287250G>A	ClinVar
rs149729975	p.Ala615Thr	missense variant	-	NC_000018.10:g.75287250G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs759158783	p.Glu616Lys	missense variant	-	NC_000018.10:g.75287253G>A	ExAC,TOPMed,gnomAD
rs764818545	p.His617Leu	missense variant	-	NC_000018.10:g.75287257A>T	ExAC,gnomAD
rs892500202	p.Asn618His	missense variant	-	NC_000018.10:g.75287259A>C	TOPMed
rs369108706	p.Asn618Lys	missense variant	-	NC_000018.10:g.75287261C>A	ESP,ExAC,TOPMed,gnomAD
rs767931372	p.Ala619Asp	missense variant	-	NC_000018.10:g.75287263C>A	ExAC,gnomAD
rs758085601	p.Ala619Thr	missense variant	-	NC_000018.10:g.75287262G>A	ExAC,TOPMed,gnomAD
rs756491979	p.Leu621Pro	missense variant	-	NC_000018.10:g.75287269T>C	ExAC,TOPMed,gnomAD
rs749769265	p.His622Arg	missense variant	-	NC_000018.10:g.75287272A>G	ExAC,gnomAD
rs778920635	p.Ser623Ala	missense variant	-	NC_000018.10:g.75287274T>G	ExAC,TOPMed,gnomAD
rs778920635	p.Ser623Pro	missense variant	-	NC_000018.10:g.75287274T>C	ExAC,TOPMed,gnomAD
rs748370995	p.Pro624Ser	missense variant	-	NC_000018.10:g.75287277C>T	ExAC,gnomAD
rs1248182928	p.Pro624Leu	missense variant	-	NC_000018.10:g.75287278C>T	gnomAD
rs773468599	p.Ser626Asn	missense variant	-	NC_000018.10:g.75287284G>A	ExAC,TOPMed,gnomAD
rs148468723	p.Thr628Met	missense variant	-	NC_000018.10:g.75287290C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs148468723	p.Thr628Arg	missense variant	-	NC_000018.10:g.75287290C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs148468723	p.Thr628Lys	missense variant	-	NC_000018.10:g.75287290C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs905384004	p.Pro629Arg	missense variant	-	NC_000018.10:g.75287293C>G	TOPMed,gnomAD
rs905384004	p.Pro629Leu	missense variant	-	NC_000018.10:g.75287293C>T	TOPMed,gnomAD
rs1160642065	p.Pro629Thr	missense variant	-	NC_000018.10:g.75287292C>A	TOPMed
rs1160642065	p.Pro629Ser	missense variant	-	NC_000018.10:g.75287292C>T	TOPMed
rs201765142	p.Pro631Leu	missense variant	-	NC_000018.10:g.75287299C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro631ThrPheSerTerUnkUnk	frameshift	-	NC_000018.10:g.75287291_75287292insC	NCI-TCGA
rs1385689506	p.Lys633Arg	missense variant	-	NC_000018.10:g.75287305A>G	gnomAD
rs1486922015	p.Asn635Ser	missense variant	-	NC_000018.10:g.75287311A>G	TOPMed
rs200947838	p.Val636Met	missense variant	-	NC_000018.10:g.75287313G>A	ExAC,TOPMed,gnomAD
RCV000351879	p.Val636Met	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75287313G>A	ClinVar
rs368515677	p.Ser637Cys	missense variant	-	NC_000018.10:g.75287317C>G	ESP,ExAC,TOPMed,gnomAD
rs368515677	p.Ser637Phe	missense variant	-	NC_000018.10:g.75287317C>T	ESP,ExAC,TOPMed,gnomAD
rs1009799807	p.Ser637Ala	missense variant	-	NC_000018.10:g.75287316T>G	TOPMed,gnomAD
rs200595144	p.Ala638Ser	missense variant	-	NC_000018.10:g.75287319G>T	ExAC,gnomAD
COSM3796523	p.Glu640Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287325G>A	NCI-TCGA Cosmic
rs1268382379	p.Glu641Val	missense variant	-	NC_000018.10:g.75287329A>T	gnomAD
rs748283144	p.Thr647Met	missense variant	-	NC_000018.10:g.75287347C>T	ExAC,TOPMed,gnomAD
COSM989931	p.Gly648Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287350G>A	NCI-TCGA Cosmic
rs1451586870	p.Lys649Glu	missense variant	-	NC_000018.10:g.75287352A>G	gnomAD
rs1018105040	p.Asn651Ser	missense variant	-	NC_000018.10:g.75287359A>G	gnomAD
rs1018105040	p.Asn651Ile	missense variant	-	NC_000018.10:g.75287359A>T	gnomAD
rs200181888	p.Ile652Thr	missense variant	-	NC_000018.10:g.75287362T>C	1000Genomes,ExAC,gnomAD
rs1457133058	p.Lys653Asn	missense variant	-	NC_000018.10:g.75287366G>T	TOPMed
rs1158623286	p.Glu655Lys	missense variant	-	NC_000018.10:g.75287370G>A	gnomAD
rs1161590704	p.Glu656Asp	missense variant	-	NC_000018.10:g.75287375G>C	gnomAD
rs1364632347	p.Glu656Gln	missense variant	-	NC_000018.10:g.75287373G>C	gnomAD
rs770654656	p.Glu656Gly	missense variant	-	NC_000018.10:g.75287374A>G	ExAC,gnomAD
rs776529264	p.Arg657Ser	missense variant	-	NC_000018.10:g.75287378A>C	ExAC,gnomAD
rs1387134970	p.Arg657Gly	missense variant	-	NC_000018.10:g.75287376A>G	TOPMed
rs761705201	p.Pro658Ser	missense variant	-	NC_000018.10:g.75287379C>T	ExAC,TOPMed,gnomAD
rs769798292	p.Pro658Leu	missense variant	-	NC_000018.10:g.75287380C>T	ExAC,TOPMed,gnomAD
rs775558843	p.Pro659Ser	missense variant	-	NC_000018.10:g.75287382C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu660Gln	missense variant	-	NC_000018.10:g.75287385G>C	NCI-TCGA
rs1248776224	p.Lys661Asn	missense variant	-	NC_000018.10:g.75287390G>T	TOPMed
rs1318377642	p.Glu662Lys	missense variant	-	NC_000018.10:g.75287391G>A	TOPMed,gnomAD
rs767584895	p.Lys663Arg	missense variant	-	NC_000018.10:g.75287395A>G	ExAC,TOPMed,gnomAD
rs1264390920	p.Ser664Gly	missense variant	-	NC_000018.10:g.75287397A>G	gnomAD
rs55679337	p.Leu666Gln	missense variant	-	NC_000018.10:g.75287404T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs55679337	p.Leu666Pro	missense variant	-	NC_000018.10:g.75287404T>C	UniProt,dbSNP
VAR_061926	p.Leu666Pro	missense variant	-	NC_000018.10:g.75287404T>C	UniProt
rs55679337	p.Leu666Pro	missense variant	-	NC_000018.10:g.75287404T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs55679337	p.Leu666Arg	missense variant	-	NC_000018.10:g.75287404T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000348539	p.Leu666Pro	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75287404T>C	ClinVar
rs760560761	p.Lys668Arg	missense variant	-	NC_000018.10:g.75287410A>G	gnomAD
NCI-TCGA novel	p.Ala669Thr	missense variant	-	NC_000018.10:g.75287412G>A	NCI-TCGA
rs766264706	p.Ala670Val	missense variant	-	NC_000018.10:g.75287416C>T	ExAC,TOPMed,gnomAD
rs138822817	p.Ser671Phe	missense variant	-	NC_000018.10:g.75287419C>T	ESP,ExAC,TOPMed,gnomAD
rs138822817	p.Ser671Cys	missense variant	-	NC_000018.10:g.75287419C>G	ESP,ExAC,TOPMed,gnomAD
rs1368032787	p.Pro672His	missense variant	-	NC_000018.10:g.75287422C>A	gnomAD
rs1368659953	p.Ile673Thr	missense variant	-	NC_000018.10:g.75287425T>C	gnomAD
rs376106462	p.Ile673Val	missense variant	-	NC_000018.10:g.75287424A>G	ESP,ExAC,TOPMed,gnomAD
rs758456489	p.Glu676Asp	missense variant	-	NC_000018.10:g.75287435G>T	ExAC
COSM3527645	p.Asn677Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287436A>T	NCI-TCGA Cosmic
rs925147059	p.Asn677Ile	missense variant	-	NC_000018.10:g.75287437A>T	TOPMed
rs751761464	p.Asn677Asp	missense variant	-	NC_000018.10:g.75287436A>G	ExAC,gnomAD
rs140696814	p.Lys678Asn	missense variant	-	NC_000018.10:g.75287441A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs140696814	p.Lys678Asn	missense variant	-	NC_000018.10:g.75287441A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1433722875	p.Asp679Glu	missense variant	-	NC_000018.10:g.75287444T>G	TOPMed
rs745717773	p.Phe680Ser	missense variant	-	NC_000018.10:g.75287446T>C	ExAC,gnomAD
rs111787453	p.Pro681Arg	missense variant	-	NC_000018.10:g.75287449C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000401602	p.Pro681Leu	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75287449C>T	ClinVar
rs111787453	p.Pro681Leu	missense variant	-	NC_000018.10:g.75287449C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1363567170	p.Pro681Ser	missense variant	-	NC_000018.10:g.75287448C>T	TOPMed
rs148177355	p.Thr683Met	missense variant	-	NC_000018.10:g.75287455C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761382436	p.Ser687Asn	missense variant	-	NC_000018.10:g.75287467G>A	ExAC,gnomAD
rs200159331	p.Gly688Arg	missense variant	-	NC_000018.10:g.75287469G>C	ESP,ExAC,TOPMed,gnomAD
rs1167965736	p.Gly688Asp	missense variant	-	NC_000018.10:g.75287470G>A	TOPMed
rs200159331	p.Gly688Ser	missense variant	-	NC_000018.10:g.75287469G>A	ESP,ExAC,TOPMed,gnomAD
rs566747365	p.Pro690Leu	missense variant	-	NC_000018.10:g.75287476C>T	1000Genomes,ExAC,gnomAD
rs759933957	p.Gln691Arg	missense variant	-	NC_000018.10:g.75287479A>G	ExAC,gnomAD
rs765563421	p.Lys693Arg	missense variant	-	NC_000018.10:g.75287485A>G	ExAC,TOPMed,gnomAD
rs1451946257	p.Gly694Asp	missense variant	-	NC_000018.10:g.75287488G>A	TOPMed
NCI-TCGA novel	p.Gly694GluPheSerTerUnk	frameshift	-	NC_000018.10:g.75287487_75287488insA	NCI-TCGA
NCI-TCGA novel	p.Gly694Cys	missense variant	-	NC_000018.10:g.75287487G>T	NCI-TCGA
COSM3527649	p.Ala697Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287497C>T	NCI-TCGA Cosmic
rs753226070	p.Ala697Ser	missense variant	-	NC_000018.10:g.75287496G>T	ExAC,gnomAD
rs141935669	p.Glu698Lys	missense variant	-	NC_000018.10:g.75287499G>A	ESP,ExAC,TOPMed,gnomAD
COSM708922	p.Gly700Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287505G>T	NCI-TCGA Cosmic
rs1207876656	p.Lys701Glu	missense variant	-	NC_000018.10:g.75287508A>G	TOPMed
rs751601396	p.Ala702Thr	missense variant	-	NC_000018.10:g.75287511G>A	ExAC,gnomAD
rs757273037	p.Ala702Val	missense variant	-	NC_000018.10:g.75287512C>T	ExAC,TOPMed,gnomAD
rs150674245	p.Lys703Arg	missense variant	-	NC_000018.10:g.75287515A>G	ESP,ExAC,TOPMed,gnomAD
rs150674245	p.Lys703Ile	missense variant	-	NC_000018.10:g.75287515A>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys703GlnPheSerTerUnkUnk	frameshift	-	NC_000018.10:g.75287512_75287513insA	NCI-TCGA
rs1294823052	p.Lys704Gln	missense variant	-	NC_000018.10:g.75287517A>C	gnomAD
rs750646695	p.Gly706Glu	missense variant	-	NC_000018.10:g.75287524G>A	ExAC,TOPMed,gnomAD
rs756026547	p.Pro707Leu	missense variant	-	NC_000018.10:g.75287527C>T	ExAC,TOPMed,gnomAD
rs1321941164	p.Leu708Arg	missense variant	-	NC_000018.10:g.75287530T>G	TOPMed
rs1042645109	p.Val710Ile	missense variant	-	NC_000018.10:g.75287535G>A	TOPMed,gnomAD
rs749182927	p.Val710Asp	missense variant	-	NC_000018.10:g.75287536T>A	ExAC,gnomAD
rs778700134	p.Thr712Ala	missense variant	-	NC_000018.10:g.75287541A>G	ExAC,TOPMed,gnomAD
rs1421608833	p.Pro713Arg	missense variant	-	NC_000018.10:g.75287545C>G	gnomAD
rs1454474129	p.Asn714Asp	missense variant	-	NC_000018.10:g.75287547A>G	gnomAD
rs747758713	p.Thr716Ile	missense variant	-	NC_000018.10:g.75287554C>T	ExAC,TOPMed,gnomAD
rs1429518493	p.Glu717Lys	missense variant	-	NC_000018.10:g.75287556G>A	gnomAD
rs778338534	p.Leu719Phe	missense variant	-	NC_000018.10:g.75287562C>T	ExAC,gnomAD
rs778338534	p.Leu719Val	missense variant	-	NC_000018.10:g.75287562C>G	ExAC,gnomAD
rs760271510	p.Leu719Arg	missense variant	-	NC_000018.10:g.75287563T>G	ExAC,gnomAD
rs1173259729	p.Ala721Thr	missense variant	-	NC_000018.10:g.75287568G>A	TOPMed
rs372728021	p.Lys722Glu	missense variant	-	NC_000018.10:g.75287571A>G	ESP,ExAC,gnomAD
rs775858487	p.Thr724Ala	missense variant	-	NC_000018.10:g.75287577A>G	ExAC,TOPMed,gnomAD
rs775858487	p.Thr724Pro	missense variant	-	NC_000018.10:g.75287577A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn725Thr	missense variant	-	NC_000018.10:g.75287581A>C	NCI-TCGA
rs764709337	p.Gly726Ser	missense variant	-	NC_000018.10:g.75287583G>A	ExAC,TOPMed,gnomAD
rs1324529153	p.Cys727Tyr	missense variant	-	NC_000018.10:g.75287587G>A	gnomAD
rs900583888	p.Asn728Lys	missense variant	-	NC_000018.10:g.75287591C>A	TOPMed,gnomAD
rs1280067084	p.Asn729Thr	missense variant	-	NC_000018.10:g.75287593A>C	TOPMed
rs1344842996	p.Gly731Glu	missense variant	-	NC_000018.10:g.75287599G>A	TOPMed
rs201122666	p.Ile732Phe	missense variant	-	NC_000018.10:g.75287601A>T	ESP,ExAC,TOPMed,gnomAD
rs201122666	p.Ile732Val	missense variant	-	NC_000018.10:g.75287601A>G	ESP,ExAC,TOPMed,gnomAD
RCV000299972	p.Met734Leu	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75287607A>C	ClinVar
RCV000354796	p.Met734Thr	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75287608T>C	ClinVar
rs113033195	p.Met734Thr	missense variant	-	NC_000018.10:g.75287608T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs886054115	p.Met734Leu	missense variant	-	NC_000018.10:g.75287607A>C	-
rs1019910350	p.His736Arg	missense variant	-	NC_000018.10:g.75287614A>G	TOPMed,gnomAD
rs753718485	p.His736Gln	missense variant	-	NC_000018.10:g.75287615C>G	ExAC,TOPMed,gnomAD
rs1019910350	p.His736Leu	missense variant	-	NC_000018.10:g.75287614A>T	TOPMed,gnomAD
RCV000259882	p.Pro738Leu	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75287620C>T	ClinVar
rs754700199	p.Pro738Ser	missense variant	-	NC_000018.10:g.75287619C>T	ExAC,gnomAD
rs370322226	p.Pro738Leu	missense variant	-	NC_000018.10:g.75287620C>T	ESP,ExAC,TOPMed,gnomAD
rs757917396	p.Pro740Leu	missense variant	-	NC_000018.10:g.75287626C>T	ExAC,TOPMed,gnomAD
rs1156420263	p.Pro740Ala	missense variant	-	NC_000018.10:g.75287625C>G	TOPMed,gnomAD
rs746694676	p.Ser741Ala	missense variant	-	NC_000018.10:g.75287628T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser741Phe	missense variant	-	NC_000018.10:g.75287629C>T	NCI-TCGA
COSM4073312	p.Asn744Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287637A>G	NCI-TCGA Cosmic
rs776122943	p.Asn744Ser	missense variant	-	NC_000018.10:g.75287638A>G	ExAC,gnomAD
rs768894820	p.Pro745Gln	missense variant	-	NC_000018.10:g.75287641C>A	ExAC
rs200359947	p.Ala748Thr	missense variant	-	NC_000018.10:g.75287649G>A	ExAC,TOPMed,gnomAD
rs1238846674	p.Leu749Ser	missense variant	-	NC_000018.10:g.75287653T>C	TOPMed
rs974148920	p.Leu749Phe	missense variant	-	NC_000018.10:g.75287654G>C	TOPMed,gnomAD
rs1224380392	p.Gln750Ter	stop gained	-	NC_000018.10:g.75287655C>T	gnomAD
rs754004902	p.Met753Val	missense variant	-	NC_000018.10:g.75287664A>G	ExAC,TOPMed,gnomAD
rs1211177938	p.Met753Thr	missense variant	-	NC_000018.10:g.75287665T>C	TOPMed
rs754004902	p.Met753Leu	missense variant	-	NC_000018.10:g.75287664A>T	ExAC,TOPMed,gnomAD
rs886054116	p.Thr755Asn	missense variant	-	NC_000018.10:g.75287671C>A	-
RCV000305765	p.Thr755Asn	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75287671C>A	ClinVar
NCI-TCGA novel	p.Pro763Leu	missense variant	-	NC_000018.10:g.75287695C>T	NCI-TCGA
rs539764315	p.Val764Met	missense variant	-	NC_000018.10:g.75287697G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs539764315	p.Val764Leu	missense variant	-	NC_000018.10:g.75287697G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs148699993	p.Ser767Leu	missense variant	-	NC_000018.10:g.75287707C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs144134267	p.Ser767Pro	missense variant	-	NC_000018.10:g.75287706T>C	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Asp769Asn	missense variant	-	NC_000018.10:g.75287712G>A	NCI-TCGA
COSM3357045	p.Pro770Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287716C>T	NCI-TCGA Cosmic
rs756726911	p.Ala772Val	missense variant	-	NC_000018.10:g.75287722C>T	ExAC,TOPMed,gnomAD
rs1306610409	p.Met773Lys	missense variant	-	NC_000018.10:g.75287725T>A	TOPMed,gnomAD
rs745491609	p.Leu774Pro	missense variant	-	NC_000018.10:g.75287728T>C	ExAC,TOPMed
COSM1389755	p.Tyr775Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287731A>G	NCI-TCGA Cosmic
rs1335395931	p.Tyr775Asp	missense variant	-	NC_000018.10:g.75287730T>G	gnomAD
rs1416115315	p.Lys776Glu	missense variant	-	NC_000018.10:g.75287733A>G	TOPMed,gnomAD
rs1326694211	p.Ser778Gly	missense variant	-	NC_000018.10:g.75287739A>G	gnomAD
rs769074162	p.Leu782Arg	missense variant	-	NC_000018.10:g.75287752T>G	ExAC,gnomAD
rs78626781	p.Asp783Glu	missense variant	-	NC_000018.10:g.75287756C>A	ExAC,TOPMed,gnomAD
rs774509221	p.Asp783Asn	missense variant	-	NC_000018.10:g.75287754G>A	ExAC,gnomAD
rs772759090	p.Pro785Leu	missense variant	-	NC_000018.10:g.75287761C>T	ExAC,TOPMed,gnomAD
rs760906345	p.Val786Leu	missense variant	-	NC_000018.10:g.75287763G>T	ExAC,gnomAD
rs770903983	p.Val786Ala	missense variant	-	NC_000018.10:g.75287764T>C	ExAC,TOPMed
rs200217009	p.Tyr787Asp	missense variant	-	NC_000018.10:g.75287766T>G	1000Genomes,ExAC,TOPMed,gnomAD
COSM3527653	p.Pro788Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287770C>T	NCI-TCGA Cosmic
rs376218267	p.Ala789Thr	missense variant	-	NC_000018.10:g.75287772G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs151202136	p.Thr790Ile	missense variant	-	NC_000018.10:g.75287776C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs151202136	p.Thr790Asn	missense variant	-	NC_000018.10:g.75287776C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000360383	p.Pro791Arg	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75287779C>G	ClinVar
rs141280995	p.Pro791Arg	missense variant	-	NC_000018.10:g.75287779C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1039462591	p.Val792Leu	missense variant	-	NC_000018.10:g.75287781G>T	gnomAD
rs1039462591	p.Val792Met	missense variant	-	NC_000018.10:g.75287781G>A	gnomAD
rs367753067	p.Asp796Asn	missense variant	-	NC_000018.10:g.75287793G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs367753067	p.Asp796His	missense variant	-	NC_000018.10:g.75287793G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3527655	p.Ala797Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287796G>A	NCI-TCGA Cosmic
rs779737686	p.Ile798Phe	missense variant	-	NC_000018.10:g.75287799A>T	ExAC,gnomAD
rs779737686	p.Ile798Val	missense variant	-	NC_000018.10:g.75287799A>G	ExAC,gnomAD
rs1020952592	p.Asp799Asn	missense variant	-	NC_000018.10:g.75287802G>A	TOPMed
rs199676563	p.Arg800Cys	missense variant	-	NC_000018.10:g.75287805C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199676563	p.Arg800Ser	missense variant	-	NC_000018.10:g.75287805C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146830433	p.Arg800His	missense variant	-	NC_000018.10:g.75287806G>A	ESP,ExAC,TOPMed,gnomAD
RCV000265801	p.Arg800Cys	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75287805C>T	ClinVar
rs747462197	p.Tyr802Cys	missense variant	-	NC_000018.10:g.75287812A>G	ExAC,TOPMed,gnomAD
rs61732783	p.Tyr803His	missense variant	-	NC_000018.10:g.75287814T>C	ESP,ExAC,TOPMed,gnomAD
rs1187268308	p.Tyr803Cys	missense variant	-	NC_000018.10:g.75287815A>G	TOPMed
rs61732783	p.Tyr803Asp	missense variant	-	NC_000018.10:g.75287814T>G	ESP,ExAC,TOPMed,gnomAD
RCV000328869	p.Tyr803His	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75287814T>C	ClinVar
rs759826465	p.Asn805Tyr	missense variant	-	NC_000018.10:g.75287820A>T	ExAC,TOPMed,gnomAD
rs374648821	p.Asp807Asn	missense variant	-	NC_000018.10:g.75287826G>A	ESP,ExAC,TOPMed,gnomAD
rs1229214860	p.Pro809Leu	missense variant	-	NC_000018.10:g.75287833C>T	TOPMed
rs1341627133	p.Ile810Val	missense variant	-	NC_000018.10:g.75287835A>G	TOPMed
rs1244509797	p.Thr813Ser	missense variant	-	NC_000018.10:g.75287845C>G	gnomAD
NCI-TCGA novel	p.Thr813Ala	missense variant	-	NC_000018.10:g.75287844A>G	NCI-TCGA
rs1463173435	p.Ser815Thr	missense variant	-	NC_000018.10:g.75287850T>A	gnomAD
COSM6149023	p.Lys816Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287854A>T	NCI-TCGA Cosmic
rs1191585448	p.Lys816Arg	missense variant	-	NC_000018.10:g.75287854A>G	gnomAD
NCI-TCGA novel	p.Lys816Asn	missense variant	-	NC_000018.10:g.75287855G>C	NCI-TCGA
rs898425126	p.Asn817Ser	missense variant	-	NC_000018.10:g.75287857A>G	gnomAD
rs763860858	p.Asn817Asp	missense variant	-	NC_000018.10:g.75287856A>G	ExAC,gnomAD
rs761584950	p.Pro819Leu	missense variant	-	NC_000018.10:g.75287863C>T	ExAC,TOPMed,gnomAD
rs943788971	p.Leu820Pro	missense variant	-	NC_000018.10:g.75287866T>C	TOPMed,gnomAD
COSM3891341	p.Val821Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287869T>G	NCI-TCGA Cosmic
COSM3527657	p.Val824Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287878T>C	NCI-TCGA Cosmic
rs149224107	p.Val824Met	missense variant	-	NC_000018.10:g.75287877G>A	ESP,ExAC,TOPMed,gnomAD
rs143323516	p.Asp826His	missense variant	-	NC_000018.10:g.75287883G>C	ESP,ExAC,TOPMed,gnomAD
rs143323516	p.Asp826Tyr	missense variant	-	NC_000018.10:g.75287883G>T	ESP,ExAC,TOPMed,gnomAD
rs143323516	p.Asp826Asn	missense variant	-	NC_000018.10:g.75287883G>A	ESP,ExAC,TOPMed,gnomAD
rs1272925884	p.Ser827Trp	missense variant	-	NC_000018.10:g.75287887C>G	TOPMed,gnomAD
rs1272925884	p.Ser827Leu	missense variant	-	NC_000018.10:g.75287887C>T	TOPMed,gnomAD
rs781707604	p.Arg833Gln	missense variant	-	NC_000018.10:g.75287905G>A	ExAC,gnomAD
rs771294029	p.Arg833Trp	missense variant	-	NC_000018.10:g.75287904C>T	ExAC,gnomAD
RCV000295029	p.Arg833Trp	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75287904C>T	ClinVar
RCV000349912	p.Ala836Thr	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75287913G>A	ClinVar
rs146956711	p.Ala836Thr	missense variant	-	NC_000018.10:g.75287913G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala836Val	missense variant	-	NC_000018.10:g.75287914C>T	NCI-TCGA
rs144268338	p.Met838Val	missense variant	-	NC_000018.10:g.75287919A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1480320495	p.Asp839Asn	missense variant	-	NC_000018.10:g.75287922G>A	gnomAD
rs1225312620	p.Asp842Asn	missense variant	-	NC_000018.10:g.75287931G>A	gnomAD
rs975008159	p.Met843Val	missense variant	-	NC_000018.10:g.75287934A>G	TOPMed,gnomAD
rs975008159	p.Met843Leu	missense variant	-	NC_000018.10:g.75287934A>T	TOPMed,gnomAD
rs1158119063	p.Val844Glu	missense variant	-	NC_000018.10:g.75287938T>A	gnomAD
rs1451659489	p.Val844Leu	missense variant	-	NC_000018.10:g.75287937G>C	gnomAD
rs1340724137	p.Lys845Arg	missense variant	-	NC_000018.10:g.75287941A>G	gnomAD
rs1383912273	p.Lys845Glu	missense variant	-	NC_000018.10:g.75287940A>G	gnomAD
rs374807933	p.Asn846Lys	missense variant	-	NC_000018.10:g.75287945C>A	ESP,ExAC,TOPMed,gnomAD
rs374807933	p.Asn846Lys	missense variant	-	NC_000018.10:g.75287945C>G	ESP,ExAC,TOPMed,gnomAD
rs1301969564	p.Asn846Ile	missense variant	-	NC_000018.10:g.75287944A>T	TOPMed
rs761651466	p.Leu847Phe	missense variant	-	NC_000018.10:g.75287946C>T	ExAC,gnomAD
rs761651466	p.Leu847Val	missense variant	-	NC_000018.10:g.75287946C>G	ExAC,gnomAD
rs1326703899	p.Gly849Ser	missense variant	-	NC_000018.10:g.75287952G>A	gnomAD
rs921949852	p.Gly849Val	missense variant	-	NC_000018.10:g.75287953G>T	TOPMed
rs150517197	p.Arg850His	missense variant	-	NC_000018.10:g.75287956G>A	ESP,ExAC,TOPMed,gnomAD
rs146587557	p.Arg850Cys	missense variant	-	NC_000018.10:g.75287955C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu851Gln	missense variant	-	NC_000018.10:g.75287959T>A	NCI-TCGA
rs765931444	p.Thr852Met	missense variant	-	NC_000018.10:g.75287962C>T	ExAC,TOPMed,gnomAD
COSM1325577	p.Lys854Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287968A>G	NCI-TCGA Cosmic
rs1468536113	p.Lys854Glu	missense variant	-	NC_000018.10:g.75287967A>G	TOPMed
NCI-TCGA novel	p.Ser856Phe	missense variant	-	NC_000018.10:g.75287974C>T	NCI-TCGA
rs1253316791	p.Thr857Met	missense variant	-	NC_000018.10:g.75287977C>T	TOPMed
rs757610202	p.Ser859Pro	missense variant	-	NC_000018.10:g.75287982T>C	ExAC,gnomAD
rs886528761	p.Val861Ala	missense variant	-	NC_000018.10:g.75287989T>C	TOPMed,gnomAD
rs781613550	p.Asp866Asn	missense variant	-	NC_000018.10:g.75288003G>A	ExAC,TOPMed,gnomAD
rs1425043288	p.Asp866Val	missense variant	-	NC_000018.10:g.75288004A>T	gnomAD
rs1304777494	p.Ala867Val	missense variant	-	NC_000018.10:g.75288007C>T	gnomAD
COSM3821747	p.Asp868Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75288009G>A	NCI-TCGA Cosmic
rs1390515868	p.Gly869Ala	missense variant	-	NC_000018.10:g.75288013G>C	gnomAD
rs780731050	p.Ser871Asn	missense variant	-	NC_000018.10:g.75288019G>A	ExAC,TOPMed,gnomAD
rs780731050	p.Ser871Ile	missense variant	-	NC_000018.10:g.75288019G>T	ExAC,TOPMed,gnomAD
rs1243177066	p.Glu874Gly	missense variant	-	NC_000018.10:g.75288028A>G	gnomAD
rs774528880	p.Ala875Val	missense variant	-	NC_000018.10:g.75288031C>T	ExAC,TOPMed,gnomAD
rs768813825	p.Ala875Ser	missense variant	-	NC_000018.10:g.75288030G>T	ExAC,gnomAD
COSM708921	p.Glu878Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.75288039G>T	NCI-TCGA Cosmic
rs529849837	p.Glu878Lys	missense variant	-	NC_000018.10:g.75288039G>A	ExAC,TOPMed,gnomAD
rs760595058	p.Leu879Gln	missense variant	-	NC_000018.10:g.75288043T>A	ExAC,TOPMed,gnomAD
rs976498917	p.Pro881Thr	missense variant	-	NC_000018.10:g.75288048C>A	TOPMed,gnomAD
rs575329067	p.Pro881Leu	missense variant	-	NC_000018.10:g.75288049C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs78081605	p.Val882Leu	missense variant	-	NC_000018.10:g.75288051G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1391473212	p.His883Pro	missense variant	-	NC_000018.10:g.75288055A>C	TOPMed
rs1352490407	p.Arg885Ser	missense variant	-	NC_000018.10:g.75288062G>C	gnomAD
rs765022598	p.Arg885Gly	missense variant	-	NC_000018.10:g.75288060A>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly887Val	missense variant	-	NC_000018.10:g.75288067G>T	NCI-TCGA
rs1053380246	p.Arg888Trp	missense variant	-	NC_000018.10:g.75288069C>T	TOPMed,gnomAD
rs368958183	p.Arg888Gln	missense variant	-	NC_000018.10:g.75288070G>A	ESP,ExAC,gnomAD
rs757619803	p.Ser890Pro	missense variant	-	NC_000018.10:g.75288075T>C	ExAC,gnomAD
rs1457096777	p.Ser890Phe	missense variant	-	NC_000018.10:g.75288076C>T	TOPMed
rs1362271244	p.Asn891Ser	missense variant	-	NC_000018.10:g.75288079A>G	TOPMed
rs767861984	p.Trp892Arg	missense variant	-	NC_000018.10:g.75288081T>C	ExAC,gnomAD
rs1382679132	p.Asn893His	missense variant	-	NC_000018.10:g.75288084A>C	gnomAD
NCI-TCGA novel	p.Asn893Ser	missense variant	-	NC_000018.10:g.75288085A>G	NCI-TCGA
RCV000401718	p.Pro894Leu	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75288088C>T	ClinVar
rs750897447	p.Pro894Ala	missense variant	-	NC_000018.10:g.75288087C>G	ExAC,gnomAD
rs886054117	p.Pro894Leu	missense variant	-	NC_000018.10:g.75288088C>T	gnomAD
rs780126465	p.Gln895Glu	missense variant	-	NC_000018.10:g.75288090C>G	ExAC,gnomAD
rs1252084475	p.Gln895Arg	missense variant	-	NC_000018.10:g.75288091A>G	TOPMed,gnomAD
rs1242676710	p.Leu898Val	missense variant	-	NC_000018.10:g.75288099C>G	gnomAD
NCI-TCGA novel	p.Leu900Met	missense variant	-	NC_000018.10:g.75288105C>A	NCI-TCGA
rs372133914	p.Gln901Arg	missense variant	-	NC_000018.10:g.75288109A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln901Leu	missense variant	-	NC_000018.10:g.75288109A>T	NCI-TCGA
rs1185276590	p.Ala902Ser	missense variant	-	NC_000018.10:g.75288111G>T	gnomAD
rs748347751	p.Ala902Gly	missense variant	-	NC_000018.10:g.75288112C>G	ExAC,gnomAD
rs200403332	p.Phe904Leu	missense variant	-	NC_000018.10:g.75288119C>A	ExAC,TOPMed,gnomAD
rs200403332	p.Phe904Leu	missense variant	-	NC_000018.10:g.75288119C>G	ExAC,TOPMed,gnomAD
rs776678187	p.Ala905Ser	missense variant	-	NC_000018.10:g.75288120G>T	ExAC,TOPMed,gnomAD
rs759183537	p.Ala905Val	missense variant	-	NC_000018.10:g.75288121C>T	ExAC,TOPMed,gnomAD
rs776678187	p.Ala905Thr	missense variant	-	NC_000018.10:g.75288120G>A	ExAC,TOPMed,gnomAD
rs769414033	p.Ser906Leu	missense variant	-	NC_000018.10:g.75288124C>T	ExAC,TOPMed,gnomAD
rs200567367	p.Ser907Arg	missense variant	-	NC_000018.10:g.75288126A>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000296939	p.Arg909Gln	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75288133G>A	ClinVar
rs150180967	p.Arg909Gln	missense variant	-	NC_000018.10:g.75288133G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs560496526	p.Arg909Trp	missense variant	-	NC_000018.10:g.75288132C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs761001288	p.Glu910Lys	missense variant	-	NC_000018.10:g.75288135G>A	ExAC,TOPMed,gnomAD
COSM3527661	p.Thr911Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75288139C>T	NCI-TCGA Cosmic
rs766942425	p.Ile917Val	missense variant	-	NC_000018.10:g.75288156A>G	ExAC,TOPMed,gnomAD
rs766942425	p.Ile917Leu	missense variant	-	NC_000018.10:g.75288156A>C	ExAC,TOPMed,gnomAD
rs754333350	p.Met918Thr	missense variant	-	NC_000018.10:g.75288160T>C	ExAC,gnomAD
rs755066375	p.Ser919Leu	missense variant	-	NC_000018.10:g.75288163C>T	ExAC,TOPMed,gnomAD
rs759206150	p.Pro923Gln	missense variant	-	NC_000018.10:g.75288175C>A	ExAC,TOPMed,gnomAD
rs759206150	p.Pro923Leu	missense variant	-	NC_000018.10:g.75288175C>T	ExAC,TOPMed,gnomAD
COSM195398	p.Arg926Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75288184G>T	NCI-TCGA Cosmic
rs777836494	p.Arg926Thr	missense variant	-	NC_000018.10:g.75288184G>C	ExAC,gnomAD
RCV000398588	p.Val927Leu	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75288186G>C	ClinVar
rs183334241	p.Val927Leu	missense variant	-	NC_000018.10:g.75288186G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs183334241	p.Val927Met	missense variant	-	NC_000018.10:g.75288186G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val927Glu	missense variant	-	NC_000018.10:g.75288187T>A	NCI-TCGA
rs1446192388	p.Phe932Ser	missense variant	-	NC_000018.10:g.75288202T>C	TOPMed
rs1453741680	p.Leu935Pro	missense variant	-	NC_000018.10:g.75288211T>C	gnomAD
COSM989941	p.Ser936Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75288214C>T	NCI-TCGA Cosmic
rs768399634	p.Met937Thr	missense variant	-	NC_000018.10:g.75288217T>C	ExAC,gnomAD
rs766674797	p.Trp943Ter	stop gained	-	NC_000018.10:g.75288235G>A	ExAC,gnomAD
rs1290652189	p.Asn946Thr	missense variant	-	NC_000018.10:g.75288244A>C	TOPMed
rs373206564	p.Asn946Lys	missense variant	-	NC_000018.10:g.75288245T>G	ESP,ExAC,TOPMed,gnomAD
rs759997577	p.Val947Met	missense variant	-	NC_000018.10:g.75288246G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln950Arg	missense variant	-	NC_000018.10:g.75288256A>G	NCI-TCGA
rs752870368	p.Arg953Ser	missense variant	-	NC_000018.10:g.75288266G>C	ExAC,gnomAD
rs758379041	p.Gly956Arg	missense variant	-	NC_000018.10:g.75288273G>A	ExAC,gnomAD
rs778122394	p.Gly956Glu	missense variant	-	NC_000018.10:g.75288274G>A	ExAC,gnomAD
rs778122394	p.Gly956Ala	missense variant	-	NC_000018.10:g.75288274G>C	ExAC,gnomAD
rs1164013464	p.Thr957Met	missense variant	-	NC_000018.10:g.75288277C>T	gnomAD
rs757913311	p.Lys958Asn	missense variant	-	NC_000018.10:g.75288281A>C	ExAC,TOPMed,gnomAD
rs745828252	p.Lys961Arg	missense variant	-	NC_000018.10:g.75288289A>G	ExAC,gnomAD
rs199779165	p.Asn962Lys	missense variant	-	NC_000018.10:g.75288293C>A	1000Genomes,ExAC,gnomAD
rs779829961	p.Leu963Pro	missense variant	-	NC_000018.10:g.75288295T>C	ExAC,gnomAD
rs1302968048	p.Asp964Gly	missense variant	-	NC_000018.10:g.75288298A>G	gnomAD
rs1438947406	p.His967Leu	missense variant	-	NC_000018.10:g.75288307A>T	gnomAD
rs1278008136	p.His967Gln	missense variant	-	NC_000018.10:g.75288308T>A	TOPMed,gnomAD
rs774010159	p.Pro968Ser	missense variant	-	NC_000018.10:g.75288309C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val969Ala	missense variant	-	NC_000018.10:g.75288313T>C	NCI-TCGA
COSM989942	p.Phe970Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75288317C>A	NCI-TCGA Cosmic
rs369406968	p.Asn973Ser	missense variant	-	NC_000018.10:g.75288325A>G	ESP,ExAC,TOPMed,gnomAD
rs1357241452	p.Asp974Asn	missense variant	-	NC_000018.10:g.75288327G>A	TOPMed,gnomAD
rs1371279524	p.Ala976Val	missense variant	-	NC_000018.10:g.75288334C>T	TOPMed
rs1221451156	p.Ala976Thr	missense variant	-	NC_000018.10:g.75288333G>A	gnomAD
rs966202320	p.Ser977Phe	missense variant	-	NC_000018.10:g.75288337C>T	TOPMed,gnomAD
rs1335376746	p.Ile986Val	missense variant	-	NC_000018.10:g.75288363A>G	gnomAD
COSM3821749	p.Ser987Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75288367G>C	NCI-TCGA Cosmic
rs1483842767	p.Ser987Arg	missense variant	-	NC_000018.10:g.75288366A>C	TOPMed
rs1274672287	p.Ser987Asn	missense variant	-	NC_000018.10:g.75288367G>A	TOPMed
COSM989943	p.His988Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75288369C>A	NCI-TCGA Cosmic
rs1382649164	p.Thr991Ile	missense variant	-	NC_000018.10:g.75288379C>T	gnomAD
NCI-TCGA novel	p.Gly994Asp	missense variant	-	NC_000018.10:g.75288388G>A	NCI-TCGA
COSM4073319	p.Ser996Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75288394G>A	NCI-TCGA Cosmic
rs764021872	p.Asp999Glu	missense variant	-	NC_000018.10:g.75288404T>G	ExAC,gnomAD
rs751833545	p.Lys1002Asn	missense variant	-	NC_000018.10:g.75288413G>C	ExAC,gnomAD
rs1163329186	p.Leu1003Val	missense variant	-	NC_000018.10:g.75288414C>G	gnomAD
rs750288838	p.Asn1006Ser	missense variant	-	NC_000018.10:g.75288424A>G	ExAC,TOPMed,gnomAD
rs530549106	p.Ile1008Thr	missense variant	-	NC_000018.10:g.75288430T>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu1010Asp	missense variant	-	NC_000018.10:g.75288437A>T	NCI-TCGA
rs749126529	p.Gln1011Glu	missense variant	-	NC_000018.10:g.75288438C>G	ExAC,gnomAD
NCI-TCGA novel	p.Gln1012His	missense variant	-	NC_000018.10:g.75288443G>T	NCI-TCGA
rs999298518	p.Asn1013Lys	missense variant	-	NC_000018.10:g.75288446T>A	gnomAD
rs1315654983	p.Val1014Ala	missense variant	-	NC_000018.10:g.75288448T>C	gnomAD
NCI-TCGA novel	p.Val1014Gly	missense variant	-	NC_000018.10:g.75288448T>G	NCI-TCGA
rs767649903	p.Val1014Leu	missense variant	-	NC_000018.10:g.75288447G>C	gnomAD
rs535727349	p.Ser1015Leu	missense variant	-	NC_000018.10:g.75288451C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs747822406	p.Val1017Ile	missense variant	-	NC_000018.10:g.75288456G>A	ExAC,gnomAD
NCI-TCGA novel	p.Val1017Gly	missense variant	-	NC_000018.10:g.75288457T>G	NCI-TCGA
NCI-TCGA novel	p.Leu1018Arg	missense variant	-	NC_000018.10:g.75288460T>G	NCI-TCGA
rs151040654	p.Thr1022Ala	missense variant	-	NC_000018.10:g.75288471A>G	ESP,ExAC,TOPMed,gnomAD
rs764987740	p.Gly1024Ser	missense variant	-	NC_000018.10:g.75288477G>A	TOPMed
RCV000273024	p.Pro1025Ser	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75288480C>T	ClinVar
rs141075503	p.Pro1025Ser	missense variant	-	NC_000018.10:g.75288480C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs746312087	p.Leu1026Met	missense variant	-	NC_000018.10:g.75288483C>A	ExAC,TOPMed,gnomAD
rs770040727	p.Leu1026Arg	missense variant	-	NC_000018.10:g.75288484T>G	ExAC,gnomAD
rs776075417	p.Gly1027Val	missense variant	-	NC_000018.10:g.75288487G>T	ExAC
COSM1389758	p.Ala1028ProPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.75288485G>-	NCI-TCGA Cosmic
rs1174285293	p.Ala1028Thr	missense variant	-	NC_000018.10:g.75288489G>A	TOPMed
rs763302485	p.Ala1028Val	missense variant	-	NC_000018.10:g.75288490C>T	ExAC,gnomAD
rs150271733	p.Glu1030Lys	missense variant	-	NC_000018.10:g.75288495G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu1030Asp	missense variant	-	NC_000018.10:g.75288497G>T	NCI-TCGA
rs1166556204	p.Asp1032Gly	missense variant	-	NC_000018.10:g.75288502A>G	gnomAD
rs147969772	p.Gly1034Asp	missense variant	-	NC_000018.10:g.75288508G>A	ESP,ExAC,TOPMed,gnomAD
rs538007160	p.Ser1035Phe	missense variant	-	NC_000018.10:g.75288511C>T	1000Genomes,ExAC,gnomAD
rs750602496	p.Thr1036Ile	missense variant	-	NC_000018.10:g.75288514C>T	ExAC,gnomAD
rs141742436	p.Phe1037Leu	missense variant	-	NC_000018.10:g.75288518C>A	ESP,ExAC,TOPMed,gnomAD
rs1428351840	p.Gln1038Arg	missense variant	-	NC_000018.10:g.75288520A>G	gnomAD
rs752245001	p.Asn1043Ser	missense variant	-	NC_000018.10:g.75288535A>G	ExAC,TOPMed,gnomAD
rs557571956	p.Arg1044Gln	missense variant	-	NC_000018.10:g.75288538G>A	1000Genomes,ExAC,gnomAD
rs996365935	p.Arg1044Trp	missense variant	-	NC_000018.10:g.75288537C>T	TOPMed,gnomAD
rs557571956	p.Arg1044Pro	missense variant	-	NC_000018.10:g.75288538G>C	1000Genomes,ExAC,gnomAD
rs777461924	p.Phe1046Val	missense variant	-	NC_000018.10:g.75288543T>G	ExAC,gnomAD
rs192671851	p.Ala1047Gly	missense variant	-	NC_000018.10:g.75288547C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs746582942	p.Ala1047Thr	missense variant	-	NC_000018.10:g.75288546G>A	ExAC,gnomAD
rs192671851	p.Ala1047Val	missense variant	-	NC_000018.10:g.75288547C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs769332406	p.Ala1051Thr	missense variant	-	NC_000018.10:g.75288558G>A	ExAC,gnomAD
rs1173278850	p.Lys1053Arg	missense variant	-	NC_000018.10:g.75288565A>G	gnomAD
rs1404262649	p.Leu1056Arg	missense variant	-	NC_000018.10:g.75288574T>G	gnomAD
rs1398941751	p.Ser1057Asn	missense variant	-	NC_000018.10:g.75288577G>A	TOPMed,gnomAD
rs1453231397	p.His1060Leu	missense variant	-	NC_000018.10:g.75288586A>T	TOPMed
rs149490301	p.Gly1061Ser	missense variant	-	NC_000018.10:g.75288588G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1280948200	p.Ser1063Pro	missense variant	-	NC_000018.10:g.75288594T>C	gnomAD
rs1223586736	p.Pro1064Ser	missense variant	-	NC_000018.10:g.75288597C>T	gnomAD
rs773490916	p.Pro1064Leu	missense variant	-	NC_000018.10:g.75288598C>T	ExAC,gnomAD
rs201020301	p.Glu1065Lys	missense variant	-	NC_000018.10:g.75288600G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs973931730	p.His1067Arg	missense variant	-	NC_000018.10:g.75288607A>G	TOPMed,gnomAD
rs1203830781	p.Ile1069Ser	missense variant	-	NC_000018.10:g.75288613T>G	gnomAD
rs1203830781	p.Ile1069Thr	missense variant	-	NC_000018.10:g.75288613T>C	gnomAD
NCI-TCGA novel	p.Ile1069Asn	missense variant	-	NC_000018.10:g.75288613T>A	NCI-TCGA
rs766222223	p.Tyr1070Cys	missense variant	-	NC_000018.10:g.75288616A>G	ExAC,gnomAD
rs1468137853	p.Val1071Met	missense variant	-	NC_000018.10:g.75288618G>A	TOPMed
rs1187676710	p.Leu1074Trp	missense variant	-	NC_000018.10:g.75288628T>G	TOPMed
rs1461207015	p.Glu1075Gly	missense variant	-	NC_000018.10:g.75288631A>G	TOPMed
rs1305037354	p.Gln1077Arg	missense variant	-	NC_000018.10:g.75288637A>G	gnomAD
rs1267004864	p.Gln1077Glu	missense variant	-	NC_000018.10:g.75288636C>G	gnomAD
rs563155210	p.Ter1078Gln	stop lost	-	NC_000018.10:g.75288639T>C	1000Genomes,ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0002395	Alzheimer's Disease	disease	BEFREE
C0002726	Amyloidosis	disease	BEFREE
C0004134	Ataxia	phenotype	BEFREE
C0005586	Bipolar Disorder	disease	BEFREE;PSYGENET
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007103	Malignant neoplasm of endometrium	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007758	Cerebellar Ataxia	phenotype	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0011265	Presenile dementia	disease	BEFREE
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	BEFREE
C0017495	Gerstmann-Straussler-Scheinker Disease	disease	BEFREE
C0018202	Granulomatous Angiitis	disease	BEFREE
C0018777	Conductive hearing loss	disease	HPO
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0036341	Schizophrenia	disease	BEFREE
C0037771	Paraparesis, Spastic	phenotype	BEFREE
C0085220	Cerebral Amyloid Angiopathy	disease	BEFREE
C0087012	Ataxia, Spinocerebellar	disease	BEFREE
C0153594	Malignant neoplasm of testis	disease	BEFREE
C0162809	Kallmann Syndrome	disease	BEFREE
C0162872	Aortic Aneurysm, Thoracic	disease	BEFREE
C0206731	Angiofibroma	disease	BEFREE
C0234133	Extrapyramidal sign	phenotype	BEFREE
C0265116	Chronic cerebral ischemia	disease	BEFREE
C0271650	Impaired glucose tolerance	phenotype	BEFREE
C0333463	Senile Plaques	phenotype	BEFREE
C0398650	Immune thrombocytopenic purpura	disease	BEFREE
C0476089	Endometrial Carcinoma	disease	BEFREE
C0495499	Congenital absence, atresia and stricture of auditory canal (external)	disease	ORPHANET
C0497327	Dementia	disease	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0752121	Spinocerebellar Ataxia Type 2	disease	BEFREE
C0752347	Lewy Body Disease	disease	BEFREE
C1270972	Mild cognitive disorder	disease	BEFREE
C1398325	Absent auditory canals	disease	HPO
C1449563	Cardiomyopathy, Familial Idiopathic	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1840305	Absent external auditory canals	phenotype	HPO
C1842937	AURAL ATRESIA, CONGENITAL	disease	BEFREE;CLINVAR;CTD_human
C1846707	SPINOCEREBELLAR ATAXIA 17	disease	BEFREE
C1857079	Atretic auditory canal	disease	HPO
C1866190	Atresia of the external auditory canal	phenotype	HPO
C1883486	Uterine Corpus Cancer	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE
C2364082	Sense of smell impaired	phenotype	HPO
C2910118	Congenital atresia or stricture of osseous meatus	disease	ORPHANET
C2931784	Amyloid angiopathy	disease	BEFREE
C2936349	Plaque, Amyloid	phenotype	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
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:0003677	DNA binding	IEA
GO:0003682	chromatin binding	IBA
GO:0046872	metal ion binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006357	regulation of transcription by RNA polymerase II	IBA
GO:0009952	anterior/posterior pattern specification	IEA
GO:0042474	middle ear morphogenesis	IEA
GO:0060023	soft palate development	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005634	nucleus	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of TSHZ1 mRNA	19114083
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate 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 TSHZ1 mRNA	27188386
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 TSHZ1 mRNA	27188386
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of TSHZ1 mRNA	20382639
C496492	abrine	abrine results in decreased expression of TSHZ1 mRNA	31054353
D000082	Acetaminophen	Acetaminophen affects the expression of TSHZ1 mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of TSHZ1 mRNA	27153756
D000661	Amphetamine	Amphetamine results in decreased expression of TSHZ1 mRNA	30779732
D001151	Arsenic	Arsenic affects the methylation of TSHZ1 gene	25304211
D017632	Asbestos, Serpentine	Asbestos, Serpentine results in increased expression of TSHZ1 mRNA	21148743
D001280	Atrazine	Atrazine results in increased expression of TSHZ1 mRNA	22378314
D001280	Atrazine	Atrazine results in increased expression of TSHZ1 mRNA	22982499
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of TSHZ1 mRNA	26238291
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of TSHZ1 mRNA	19770486
C006780	bisphenol A	bisphenol A affects the expression of TSHZ1 mRNA	21786754
C006780	bisphenol A	bisphenol A results in decreased methylation of TSHZ1 5' UTR	30906313
C006780	bisphenol A	bisphenol A results in decreased methylation of TSHZ1 intron	30906313
C006780	bisphenol A	bisphenol A results in decreased methylation of TSHZ1 promoter	30906313
C006780	bisphenol A	bisphenol A affects the methylation of TSHZ1 promoter	27334623
C006780	bisphenol A	bisphenol A affects the expression of TSHZ1 mRNA	30816183
C006780	bisphenol A	bisphenol A results in decreased expression of TSHZ1 mRNA	25181051
C018475	butyraldehyde	butyraldehyde results in decreased expression of TSHZ1 mRNA	26079696
D002220	Carbamazepine	Carbamazepine affects the expression of TSHZ1 mRNA	25979313
D002251	Carbon Tetrachloride	Carbon Tetrachloride affects the expression of TSHZ1 mRNA	17484886
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of TSHZ1 mRNA	31150632
D002737	Chloroprene	Chloroprene results in decreased expression of TSHZ1 mRNA	23125180
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of TSHZ1 mRNA	20938992
D002945	Cisplatin	Cisplatin results in decreased expression of TSHZ1 mRNA	27392435
C018021	cobaltous chloride	cobaltous chloride results in increased expression of TSHZ1 mRNA	17553155
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of TSHZ1 mRNA	24386269
D003300	Copper	[NSC 689534 binds to Copper] which results in decreased expression of TSHZ1 mRNA	20971185
D003300	Copper	[ATP7A gene mutant form results in increased abundance of Copper] which results in increased expression of TSHZ1 mRNA	15467011
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of TSHZ1 mRNA	19549813
D003471	Cuprizone	Cuprizone results in decreased expression of TSHZ1 mRNA	27523638
D003471	Cuprizone	Cuprizone results in increased expression of TSHZ1 mRNA	26577399
D016572	Cyclosporine	Cyclosporine results in decreased expression of TSHZ1 mRNA	20106945; 25562108;
C093628	cyproconazole	cyproconazole results in increased expression of TSHZ1 mRNA	22045034
D003703	Demecolcine	Demecolcine results in decreased expression of TSHZ1 mRNA	23649840
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of TSHZ1 mRNA	17361019; 21266533;
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of TSHZ1 mRNA	21266533
C000944	dicrotophos	dicrotophos results in increased expression of TSHZ1 mRNA	28302478
D004041	Dietary Fats	Dietary Fats results in increased expression of TSHZ1 mRNA	18042831
D004147	Dioxins	Dioxins affects the expression of TSHZ1 mRNA	20463971
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate 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 TSHZ1 mRNA	27188386
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 TSHZ1 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of TSHZ1 mRNA	29803840
C024565	ethylene dichloride	ethylene dichloride results in decreased expression of TSHZ1 mRNA	28189721
D005472	Fluorouracil	Fluorouracil results in increased expression of TSHZ1 mRNA	16584549
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of TSHZ1 mRNA	20938992
D005557	Formaldehyde	Formaldehyde results in decreased expression of TSHZ1 mRNA	20655997; 23649840;
C069837	fullerene C60	fullerene C60 results in decreased expression of TSHZ1 mRNA	19167457
D005897	Glafenine	Glafenine results in decreased expression of TSHZ1 mRNA	24136188
D005947	Glucose	[INS protein co-treated with Glucose] results in increased expression of TSHZ1 mRNA	22634610
C031927	hydroquinone	hydroquinone results in decreased expression of TSHZ1 mRNA	31256213
D007501	Iron	Iron deficiency results in increased expression of TSHZ1 mRNA	16629162
C025340	manganese chloride	manganese chloride results in increased expression of TSHZ1 mRNA	28801915
D008701	Methapyrilene	Methapyrilene results in decreased expression of TSHZ1 mRNA	30467583
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of TSHZ1 mRNA	20938992
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of TSHZ1 mRNA	28001369
D015741	Metribolone	Metribolone results in increased expression of TSHZ1 mRNA	17010196
C028007	nickel monoxide	nickel monoxide results in decreased expression of TSHZ1 mRNA	19167457
D009534	Niclosamide	Niclosamide results in increased expression of TSHZ1 mRNA	31398420
C558013	NSC 689534	[NSC 689534 binds to Copper] which results in decreased expression of TSHZ1 mRNA	20971185
D000073878	Palm Oil	Palm Oil results in increased expression of TSHZ1 mRNA	18042831
C016030	pantogab	pantogab results in decreased expression of TSHZ1 mRNA	17379144
C568608	PCI 5002	[PCI 5002 co-treated with Zinc] results in increased expression of TSHZ1 mRNA	18593933
D010634	Phenobarbital	Phenobarbital affects the expression of TSHZ1 mRNA	23091169
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate 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 TSHZ1 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of TSHZ1 mRNA	26272509
D011374	Progesterone	Progesterone results in increased expression of TSHZ1 mRNA	23018184
C005556	propionaldehyde	propionaldehyde results in decreased expression of TSHZ1 mRNA	26079696
D011441	Propylthiouracil	Propylthiouracil results in increased expression of TSHZ1 mRNA	24780913
D011794	Quercetin	Quercetin results in decreased expression of TSHZ1 mRNA	21632981
D000077185	Resveratrol	Resveratrol results in decreased expression of TSHZ1 mRNA	25905778
D012834	Silver	Silver results in decreased expression of TSHZ1 mRNA	27131904
C009277	sodium arsenate	sodium arsenate results in decreased expression of TSHZ1 mRNA	30953684
D018038	Sodium Selenite	Sodium Selenite results in increased expression of TSHZ1 mRNA	18175754
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of TSHZ1 mRNA	31299295
C004648	testosterone enanthate	testosterone enanthate affects the expression of TSHZ1 mRNA	17440010
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of TSHZ1 mRNA	24058054
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of TSHZ1 mRNA	18691609
D013749	Tetrachlorodibenzodioxin	[TIPARP gene mutant form results in increased susceptibility to Tetrachlorodibenzodioxin] which results in increased expression of TSHZ1 mRNA	25975270
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of TSHZ1 mRNA	22298810
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of TSHZ1 mRNA	21215274
D014212	Tretinoin	ALDH1A2 protein mutant form inhibits the reaction [Tretinoin results in increased expression of TSHZ1 mRNA]	17035100
D014212	Tretinoin	Tretinoin results in increased expression of TSHZ1 mRNA	17035100; 18230668;
D014212	Tretinoin	Tretinoin results in increased expression of TSHZ1 mRNA	21934132
D014212	Tretinoin	Tretinoin results in increased expression of TSHZ1 mRNA	20488242
C012589	trichostatin A	trichostatin A results in increased expression of TSHZ1 mRNA	24935251
D000077288	Troglitazone	Troglitazone results in decreased expression of TSHZ1 mRNA	28973697
D014520	Urethane	Urethane results in increased expression of TSHZ1 mRNA	28818685
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 TSHZ1 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of TSHZ1 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of TSHZ1 mRNA	23179753; 24383497; 24935251; 26272509; 27188386; 28001369; 29154799;
D014635	Valproic Acid	Valproic Acid results in increased expression of TSHZ1 mRNA	22045034
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of TSHZ1 gene	25560391
D014750	Vincristine	Vincristine results in decreased expression of TSHZ1 mRNA	23649840
D015032	Zinc	[PCI 5002 co-treated with Zinc] results in increased expression of TSHZ1 mRNA	18593933

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0217	Developmental protein
KW-0238	DNA-binding
KW-0371	Homeobox
KW-0479	Metal-binding
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0677	Repeat
KW-0678	Repressor
KW-0804	Transcription
KW-0805	Transcription regulation
KW-0862	Zinc
KW-0863	Zinc-finger

Interpro

InterPro ID	InterPro Term
IPR001356	Homeobox_dom
IPR027008	Teashirt_fam
IPR026808	Tshz1
IPR013087	Znf_C2H2_type

PROSITE

PROSITE ID	PROSITE Term
PS00028	ZINC_FINGER_C2H2_1
PS50157	ZINC_FINGER_C2H2_2

Pfam

Pfam ID	Pfam Term

Gene: TSHZ1

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