CleftGeneDB-Search

Gene: BBS7

Basic information

Tag	Content
Uniprot ID	Q8IWZ6; Q4W5P8; Q8N581; Q9NVI4;
Entrez ID	55212
Genbank protein ID	AAO16025.1; AAH32691.1; BAA91767.1; AAO16026.1; AAY40970.1;
Genbank nucleotide ID	NM_018190.3; NM_176824.2;
Ensembl protein ID	ENSP00000264499; ENSP00000423626;
Ensembl nucleotide ID	ENSG00000138686
Gene name	Bardet-Biedl syndrome 7 protein
Gene symbol	BBS7
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization.
Sequence	MDLILNRMDY LQVGVTSQKT MKLIPASRHR ATQKVVIGDH DGVVMCFGMK KGEAAAVFKT 60 LPGPKIARLE LGGVINTPQE KIFIAAASEI RGFTKRGKQF LSFETNLTES IKAMHISGSD 120 LFLSASYIYN HYCDCKDQHY YLSGDKINDV ICLPVERLSR ITPVLACQDR VLRVLQGSDV 180 MYAVEVPGPP TVLALHNGNG GDSGEDLLFG TSDGKLALIQ ITTSKPVRKW EIQNEKKRGG 240 ILCIDSFDIV GDGVKDLLVG RDDGMVEVYS FDNANEPVLR FDQMLSESVT SIQGGCVGKD 300 SYDEIVVSTY SGWVTGLTTE PIHKESGPGE ELKINQEMQN KISSLRNELE HLQYKVLQER 360 ENYQQSSQSS KAKSAVPSFG INDKFTLNKD DASYSLILEV QTAIDNVLIQ SDVPIDLLDV 420 DKNSAVVSFS SCDSESNDNF LLATYRCQAD TTRLELKIRS IEGQYGTLQA YVTPRIQPKT 480 CQVRQYHIKP LSLHQRTHFI DHDRPMNTLT LTGQFSFAEV HSWVVFCLPE VPEKPPAGEC 540 VTFYFQNTFL DTQLESTYRK GEGVFKSDNI STISILKDVL SKEATKRKIN LNISYEINEV 600 SVKHTLKLIH PKLEYQLLLA KKVQLIDALK ELQIHEGNTN FLIPEYHCIL EEADHLQEEY 660 KKQPAHLERL YGMITDLFID KFKFKGTNVK TKVPLLLEIL DSYDQNALIS FFDAA 715

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	BBS7	476092	E2RQA6		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	BBS7	102188122	A0A452FKE4		Capra hircus	Prediction	More>>
1:1 ortholog	BBS7	100063923	A0A3Q2H7W6		Equus caballus	Prediction	More>>
1:1 ortholog	BBS7	55212	Q8IWZ6		Homo sapiens	Prediction	More>>
1:1 ortholog	Bbs7	71492	Q8K2G4	CPO,CLP,CLO	Mus musculus	Publication	More>>
1:1 ortholog	BBS7		K7BD37		Pan troglodytes	Prediction	More>>
1:1 ortholog	BBS7		A0A288CFV9		Sus scrofa	Prediction	More>>
1:1 ortholog	Bbs7	361930	Q66H90		Rattus norvegicus	Prediction	More>>
1:1 ortholog	bbs7		F1Q6W8		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1361585334	p.Asp2Val	missense variant	-	NC_000004.12:g.121870309T>A	gnomAD
rs747365719	p.Asp2Asn	missense variant	-	NC_000004.12:g.121870310C>T	ExAC,gnomAD
rs780400529	p.Ile4Val	missense variant	-	NC_000004.12:g.121870304T>C	ExAC,gnomAD
rs542274936	p.Ile4Thr	missense variant	-	NC_000004.12:g.121870303A>G	1000Genomes,ExAC,gnomAD
RCV000340451	p.Ile4Thr	missense variant	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121870303A>G	ClinVar
rs200420622	p.Asn6Lys	missense variant	-	NC_000004.12:g.121870296G>C	1000Genomes,ExAC,gnomAD
rs779391175	p.Arg7Leu	missense variant	-	NC_000004.12:g.121870294C>A	ExAC,gnomAD
rs757370927	p.Met8Leu	missense variant	-	NC_000004.12:g.121870292T>A	ExAC,TOPMed,gnomAD
rs757370927	p.Met8Val	missense variant	-	NC_000004.12:g.121870292T>C	ExAC,TOPMed,gnomAD
rs1455637176	p.Asp9Asn	missense variant	-	NC_000004.12:g.121870289C>T	gnomAD
NCI-TCGA novel	p.Gln12Ter	stop gained	-	NC_000004.12:g.121870280G>A	NCI-TCGA
rs753027552	p.Val13Met	missense variant	-	NC_000004.12:g.121868046C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly14Ala	missense variant	-	NC_000004.12:g.121868042C>G	NCI-TCGA
COSM6098997	p.Val15Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121868040C>A	NCI-TCGA Cosmic
rs781530228	p.Val15Ile	missense variant	-	NC_000004.12:g.121868040C>T	ExAC,gnomAD
rs1280391034	p.Gln18Pro	missense variant	-	NC_000004.12:g.121868030T>G	TOPMed
rs751350429	p.Thr20Ser	missense variant	-	NC_000004.12:g.121868024G>C	ExAC,gnomAD
rs751350429	p.Thr20Ile	missense variant	-	NC_000004.12:g.121868024G>A	ExAC,gnomAD
rs1353055258	p.Met21Val	missense variant	-	NC_000004.12:g.121868022T>C	TOPMed
rs766450289	p.Ala26Thr	missense variant	-	NC_000004.12:g.121868007C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg28Lys	missense variant	-	NC_000004.12:g.121868000C>T	NCI-TCGA
rs762882282	p.His29Gln	missense variant	-	NC_000004.12:g.121867996G>C	ExAC,gnomAD
NCI-TCGA novel	p.Arg30SerPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.121867992_121867993CT>-	NCI-TCGA
NCI-TCGA novel	p.Arg30Ter	stop gained	-	NC_000004.12:g.121867995T>A	NCI-TCGA
rs757531986	p.Ala31Asp	missense variant	-	NC_000004.12:g.121867991G>T	-
rs749914647	p.Thr32Ala	missense variant	-	NC_000004.12:g.121867989T>C	ExAC,TOPMed,gnomAD
rs1328906523	p.Ile37Thr	missense variant	-	NC_000004.12:g.121863272A>G	gnomAD
rs1294638056	p.Ile37Val	missense variant	-	NC_000004.12:g.121863273T>C	TOPMed
COSM6166127	p.Asp39Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121863267C>A	NCI-TCGA Cosmic
rs1400413414	p.Asp39Gly	missense variant	-	NC_000004.12:g.121863266T>C	gnomAD
rs1221499782	p.Gly42Glu	missense variant	-	NC_000004.12:g.121863257C>T	TOPMed,gnomAD
RCV000625806	p.Gly42Glu	missense variant	Bardet-Biedl syndrome 7 (BBS7)	NC_000004.12:g.121863257C>T	ClinVar
rs190999071	p.Val43Ile	missense variant	-	NC_000004.12:g.121863255C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs753299730	p.Cys46Tyr	missense variant	-	NC_000004.12:g.121863245C>T	ExAC
rs1469459149	p.Met49Val	missense variant	-	NC_000004.12:g.121863237T>C	gnomAD
rs763772596	p.Met49Thr	missense variant	-	NC_000004.12:g.121863236A>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys50Asn	missense variant	-	NC_000004.12:g.121863232C>A	NCI-TCGA
rs1180749261	p.Glu53Ala	missense variant	-	NC_000004.12:g.121863224T>G	gnomAD
rs1440611789	p.Ala54Thr	missense variant	-	NC_000004.12:g.121863222C>T	gnomAD
rs1209263561	p.Ala55Gly	missense variant	-	NC_000004.12:g.121863218G>C	TOPMed
rs1407094427	p.Ala56Ser	missense variant	-	NC_000004.12:g.121861679C>A	gnomAD
rs752384289	p.Val57Ala	missense variant	-	NC_000004.12:g.121861675A>G	ExAC,gnomAD
rs763396174	p.Phe58Leu	missense variant	-	NC_000004.12:g.121861671G>C	ExAC,gnomAD
COSM732789	p.Lys59Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121861668C>A	NCI-TCGA Cosmic
rs773406953	p.Lys59Gln	missense variant	-	NC_000004.12:g.121861670T>G	ExAC,gnomAD
rs1460357186	p.Thr60Ser	missense variant	-	NC_000004.12:g.121861667T>A	TOPMed
rs765777187	p.Pro62Ala	missense variant	-	NC_000004.12:g.121861661G>C	ExAC,gnomAD
rs754579374	p.Gly63Arg	missense variant	Bardet-Biedl syndrome 7 (BBS7)	NC_000004.12:g.121861658C>T	UniProt,dbSNP
VAR_066286	p.Gly63Arg	missense variant	Bardet-Biedl syndrome 7 (BBS7)	NC_000004.12:g.121861658C>T	UniProt
rs754579374	p.Gly63Arg	missense variant	-	NC_000004.12:g.121861658C>T	ExAC,TOPMed,gnomAD
rs747055521	p.Pro64Leu	missense variant	-	NC_000004.12:g.121861654G>A	ExAC,TOPMed,gnomAD
rs367765050	p.Ile66Met	missense variant	-	NC_000004.12:g.121861647A>C	ESP,ExAC,TOPMed,gnomAD
VAR_038893	p.Ile66Phe	Missense	Bardet-Biedl syndrome 7 (BBS7) [MIM:615984]	-	UniProt
rs1290320900	p.Ala67Val	missense variant	-	NC_000004.12:g.121861645G>A	TOPMed
COSM6098998	p.Arg68Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121861643T>A	NCI-TCGA Cosmic
rs1400310194	p.Glu70Gln	missense variant	-	NC_000004.12:g.121861637C>G	gnomAD
rs572718618	p.Gly72Arg	missense variant	-	NC_000004.12:g.121861631C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs572718618	p.Gly72Arg	missense variant	-	NC_000004.12:g.121861631C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1438878255	p.Gly72Glu	missense variant	-	NC_000004.12:g.121861630C>T	gnomAD
rs901439488	p.Gly73Glu	missense variant	-	NC_000004.12:g.121861627C>T	gnomAD
rs138872188	p.Ile75Val	missense variant	-	NC_000004.12:g.121861622T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000178402	p.Ile75Val	missense variant	-	NC_000004.12:g.121861622T>C	ClinVar
rs146125296	p.Asn76Ser	missense variant	-	NC_000004.12:g.121861618T>C	ESP,TOPMed,gnomAD
rs1211486686	p.Thr77Ile	missense variant	-	NC_000004.12:g.121861615G>A	TOPMed
rs751170388	p.Pro78Ser	missense variant	-	NC_000004.12:g.121861613G>A	-
rs910242228	p.Gln79Arg	missense variant	-	NC_000004.12:g.121861609T>C	gnomAD
rs1480281788	p.Lys81Glu	missense variant	-	NC_000004.12:g.121861604T>C	gnomAD
COSM1050594	p.Phe83Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121861597A>C	NCI-TCGA Cosmic
rs755666874	p.Ala86Thr	missense variant	-	NC_000004.12:g.121861589C>T	ExAC,gnomAD
rs1274597386	p.Ala86Val	missense variant	-	NC_000004.12:g.121861588G>A	TOPMed,gnomAD
COSM3008457	p.Ser88Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121861582G>T	NCI-TCGA Cosmic
rs1489244436	p.Ser88Ala	missense variant	-	NC_000004.12:g.121861583A>C	gnomAD
rs199806762	p.Ile90Met	missense variant	-	NC_000004.12:g.121861575A>C	ExAC,TOPMed,gnomAD
rs1197411330	p.Ile90Val	missense variant	-	NC_000004.12:g.121861577T>C	TOPMed,gnomAD
rs1197411330	p.Ile90Leu	missense variant	-	NC_000004.12:g.121861577T>G	TOPMed,gnomAD
rs1197411330	p.Ile90Phe	missense variant	-	NC_000004.12:g.121861577T>A	TOPMed,gnomAD
rs754518306	p.Gly92Ala	missense variant	-	NC_000004.12:g.121861570C>G	ExAC,gnomAD
rs750813339	p.Phe93Val	missense variant	-	NC_000004.12:g.121861568A>C	ExAC,TOPMed,gnomAD
rs1342324257	p.Phe93Ser	missense variant	-	NC_000004.12:g.121861567A>G	gnomAD
rs202102193	p.Thr94Ser	missense variant	-	NC_000004.12:g.121861565T>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000283074	p.Thr94Ser	missense variant	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121861565T>A	ClinVar
rs1226190524	p.Gly97Glu	missense variant	-	NC_000004.12:g.121861555C>T	gnomAD
COSM3775507	p.Gln99Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121861549T>A	NCI-TCGA Cosmic
rs750255237	p.Phe100Leu	missense variant	-	NC_000004.12:g.121861545G>C	ExAC,TOPMed,gnomAD
rs760863058	p.Leu101His	missense variant	-	NC_000004.12:g.121861543A>T	ExAC,gnomAD
rs760863058	p.Leu101Pro	missense variant	-	NC_000004.12:g.121861543A>G	ExAC,gnomAD
rs1444574615	p.Phe103Ser	missense variant	-	NC_000004.12:g.121861537A>G	gnomAD
COSM1426639	p.Leu107Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121861526G>T	NCI-TCGA Cosmic
rs775395171	p.Ser110Asn	missense variant	-	NC_000004.12:g.121861516C>T	ExAC,TOPMed,gnomAD
rs142305911	p.Met114Val	missense variant	-	NC_000004.12:g.121861505T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs771119779	p.Met114Ile	missense variant	-	NC_000004.12:g.121859178C>T	ExAC,gnomAD
rs142305911	p.Met114Leu	missense variant	-	NC_000004.12:g.121861505T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1026737417	p.His115Gln	missense variant	-	NC_000004.12:g.121859175G>C	TOPMed,gnomAD
rs771089464	p.Ser117Ala	missense variant	-	NC_000004.12:g.121859171A>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly118Val	missense variant	-	NC_000004.12:g.121859167C>A	NCI-TCGA
COSM279132	p.Asp120Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121859162C>A	NCI-TCGA Cosmic
rs865777835	p.Asp120Glu	missense variant	-	NC_000004.12:g.121859160G>T	TOPMed
NCI-TCGA novel	p.Leu121Ile	missense variant	-	NC_000004.12:g.121859159G>T	NCI-TCGA
rs1386134554	p.Ala125Val	missense variant	-	NC_000004.12:g.121859146G>A	TOPMed
rs989524053	p.Ser126Gly	missense variant	-	NC_000004.12:g.121859144T>C	TOPMed,gnomAD
rs1395783350	p.Tyr127Cys	missense variant	-	NC_000004.12:g.121859140T>C	TOPMed
rs762766426	p.Tyr129Cys	missense variant	-	NC_000004.12:g.121859134T>C	ExAC,gnomAD
RCV000200204	p.Asn130Ter	frameshift	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121859130_121859131del	ClinVar
RCV000710060	p.Asn130Ter	frameshift	Bardet-Biedl syndrome 7 (BBS7)	NC_000004.12:g.121859130_121859131del	ClinVar
rs772922826	p.His131Tyr	missense variant	-	NC_000004.12:g.121859129G>A	ExAC,TOPMed,gnomAD
COSM1050593	p.His131Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121859127A>T	NCI-TCGA Cosmic
rs772922826	p.His131Asn	missense variant	-	NC_000004.12:g.121859129G>T	ExAC,TOPMed,gnomAD
rs1402271168	p.His131Leu	missense variant	-	NC_000004.12:g.121859128T>A	gnomAD
rs772922826	p.His131Asp	missense variant	-	NC_000004.12:g.121859129G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr132His	missense variant	-	NC_000004.12:g.121859126A>G	NCI-TCGA
rs769735978	p.Cys133Tyr	missense variant	-	NC_000004.12:g.121859122C>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp134Gly	missense variant	-	NC_000004.12:g.121859119T>C	NCI-TCGA
rs748093313	p.Cys135Arg	missense variant	-	NC_000004.12:g.121859117A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asp137Gly	missense variant	-	NC_000004.12:g.121859110T>C	NCI-TCGA
rs1366190403	p.Gln138Lys	missense variant	-	NC_000004.12:g.121859108G>T	gnomAD
rs768091503	p.His139Asp	missense variant	-	NC_000004.12:g.121859105G>C	ExAC,gnomAD
rs1243556280	p.Tyr140Cys	missense variant	-	NC_000004.12:g.121859101T>C	TOPMed
rs779596692	p.Tyr140Ter	stop gained	-	NC_000004.12:g.121859100A>C	ExAC,gnomAD
rs1262413437	p.Tyr140His	missense variant	-	NC_000004.12:g.121859102A>G	gnomAD
rs558795493	p.Tyr141Phe	missense variant	-	NC_000004.12:g.121859098T>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ser143Phe	missense variant	-	NC_000004.12:g.121859092G>A	NCI-TCGA
rs754262900	p.Ser143Tyr	missense variant	-	NC_000004.12:g.121859092G>T	ExAC,gnomAD
COSM3825086	p.Asp145His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121859087C>G	NCI-TCGA Cosmic
rs1209449438	p.Asp145Gly	missense variant	-	NC_000004.12:g.121859086T>C	TOPMed,gnomAD
rs778229076	p.Lys146Glu	missense variant	-	NC_000004.12:g.121859084T>C	ExAC,TOPMed,gnomAD
COSM732790	p.Ile147Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121859079G>C	NCI-TCGA Cosmic
rs982037757	p.Asn148His	missense variant	-	NC_000004.12:g.121859078T>G	TOPMed
rs1338107137	p.Asp149Tyr	missense variant	-	NC_000004.12:g.121859075C>A	TOPMed
RCV000196306	p.Cys152Arg	missense variant	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121859066A>G	ClinVar
rs863224814	p.Cys152Arg	missense variant	-	NC_000004.12:g.121859066A>G	-
rs756538454	p.Arg160Cys	missense variant	-	NC_000004.12:g.121859042G>A	ExAC,TOPMed,gnomAD
rs138270119	p.Arg160His	missense variant	-	NC_000004.12:g.121859041C>T	ESP,TOPMed
NCI-TCGA novel	p.Thr162Ile	missense variant	-	NC_000004.12:g.121859035G>A	NCI-TCGA
rs370690441	p.Pro163Ser	missense variant	-	NC_000004.12:g.121859033G>A	ESP,ExAC,gnomAD
RCV000384494	p.Pro163Ser	missense variant	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121859033G>A	ClinVar
rs897030336	p.Val164Ile	missense variant	-	NC_000004.12:g.121859030C>T	TOPMed,gnomAD
rs1341540567	p.Ala166Asp	missense variant	-	NC_000004.12:g.121859023G>T	gnomAD
rs1385873554	p.Gln168Ter	stop gained	-	NC_000004.12:g.121859018G>A	gnomAD
rs751615557	p.Gln168Arg	missense variant	-	NC_000004.12:g.121859017T>C	ExAC,gnomAD
rs766590920	p.Asp169Gly	missense variant	-	NC_000004.12:g.121859014T>C	ExAC,TOPMed,gnomAD
rs199891330	p.Arg170Gly	missense variant	-	NC_000004.12:g.121859012T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs377607757	p.Val171Leu	missense variant	-	NC_000004.12:g.121859009C>G	ESP,ExAC,TOPMed,gnomAD
rs377607757	p.Val171Met	missense variant	-	NC_000004.12:g.121859009C>T	ESP,ExAC,TOPMed,gnomAD
rs768591410	p.Leu172Phe	missense variant	-	NC_000004.12:g.121859006G>A	ExAC,gnomAD
rs371007019	p.Val174Ile	missense variant	-	NC_000004.12:g.121859000C>T	ESP
rs746533877	p.Leu175Phe	missense variant	-	NC_000004.12:g.121858995T>G	ExAC,TOPMed,gnomAD
rs1015454276	p.Gln176His	missense variant	-	NC_000004.12:g.121858992C>A	gnomAD
rs765423866	p.Ser178Phe	missense variant	-	NC_000004.12:g.121855557G>A	ExAC,gnomAD
rs750684046	p.Ser178Thr	missense variant	-	NC_000004.12:g.121855558A>T	ExAC,gnomAD
RCV000638362	p.Met181Ter	frameshift	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121855547_121855548insTT	ClinVar
rs1278566552	p.Met181Ile	missense variant	-	NC_000004.12:g.121855547C>T	TOPMed,gnomAD
rs1278566552	p.Met181Ile	missense variant	-	NC_000004.12:g.121855547C>A	TOPMed,gnomAD
rs761537531	p.Met181Leu	missense variant	-	NC_000004.12:g.121855549T>G	ExAC,TOPMed,gnomAD
rs776448284	p.Glu185Ala	missense variant	-	NC_000004.12:g.121855536T>G	ExAC,TOPMed,gnomAD
rs1257012888	p.Pro187Ser	missense variant	-	NC_000004.12:g.121855531G>A	gnomAD
rs1327487618	p.Pro189Leu	missense variant	-	NC_000004.12:g.121855524G>A	TOPMed
rs202073702	p.Pro190Leu	missense variant	-	NC_000004.12:g.121855521G>A	1000Genomes
rs771779526	p.Thr191Ser	missense variant	-	NC_000004.12:g.121855518G>C	ExAC,gnomAD
rs775558959	p.Thr191Ala	missense variant	-	NC_000004.12:g.121855519T>C	ExAC,gnomAD
rs1333553284	p.Val192Leu	missense variant	-	NC_000004.12:g.121855516C>G	TOPMed
rs373658912	p.Ala194Thr	missense variant	-	NC_000004.12:g.121855510C>T	ESP,ExAC,gnomAD
rs1333438376	p.Leu195Pro	missense variant	-	NC_000004.12:g.121855506A>G	TOPMed,gnomAD
rs886059054	p.His196Arg	missense variant	-	NC_000004.12:g.121855503T>C	-
RCV000327791	p.His196Arg	missense variant	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121855503T>C	ClinVar
rs770553026	p.Asn197Ser	missense variant	-	NC_000004.12:g.121855500T>C	ExAC,TOPMed,gnomAD
COSM447305	p.Gly198Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121855497C>A	NCI-TCGA Cosmic
rs768882262	p.Gly201Ser	missense variant	-	NC_000004.12:g.121855489C>T	ExAC,gnomAD
rs1360720069	p.Gly201Asp	missense variant	-	NC_000004.12:g.121854820C>T	TOPMed
rs772709822	p.Gly204Glu	missense variant	-	NC_000004.12:g.121854811C>T	ExAC,gnomAD
COSM732791	p.Gly204Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121854811C>G	NCI-TCGA Cosmic
rs1253226021	p.Glu205Gly	missense variant	-	NC_000004.12:g.121854808T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Asp206Val	missense variant	-	NC_000004.12:g.121854805T>A	NCI-TCGA
rs769131424	p.Asp206Ala	missense variant	-	NC_000004.12:g.121854805T>G	ExAC,gnomAD
rs747360680	p.Leu207Phe	missense variant	-	NC_000004.12:g.121854803G>A	ExAC,gnomAD
rs780552411	p.Leu208Trp	missense variant	-	NC_000004.12:g.121854799A>C	ExAC,gnomAD
rs119466002	p.Thr211Ile	missense variant	-	NC_000004.12:g.121854790G>A	ExAC,TOPMed,gnomAD
RCV000003152	p.Thr211Ile	missense variant	Bardet-Biedl syndrome 1/7, digenic	NC_000004.12:g.121854790G>A	ClinVar
RCV000456825	p.Thr211Ile	missense variant	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121854790G>A	ClinVar
rs1287944832	p.Thr211Ala	missense variant	-	NC_000004.12:g.121854791T>C	TOPMed
rs147752059	p.Ser212Leu	missense variant	-	NC_000004.12:g.121854787G>A	1000Genomes,ExAC,gnomAD
rs147752059	p.Ser212Ter	stop gained	-	NC_000004.12:g.121854787G>C	1000Genomes,ExAC,gnomAD
rs1226167451	p.Gly214Arg	missense variant	-	NC_000004.12:g.121854782C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gly214Arg	missense variant	-	NC_000004.12:g.121854782C>G	NCI-TCGA
rs757258740	p.Lys215Thr	missense variant	-	NC_000004.12:g.121854778T>G	ExAC,gnomAD
rs370510563	p.Ala217Val	missense variant	-	NC_000004.12:g.121854772G>A	ESP,ExAC,TOPMed,gnomAD
rs370510563	p.Ala217Gly	missense variant	-	NC_000004.12:g.121854772G>C	ESP,ExAC,TOPMed,gnomAD
rs370510563	p.Ala217Glu	missense variant	-	NC_000004.12:g.121854772G>T	ESP,ExAC,TOPMed,gnomAD
RCV000339724	p.Ala217Ter	frameshift	-	NC_000004.12:g.121854773dup	ClinVar
rs752476848	p.Leu218Arg	missense variant	-	NC_000004.12:g.121854769A>C	ExAC,TOPMed,gnomAD
rs1431713525	p.Ile219Thr	missense variant	-	NC_000004.12:g.121854766A>G	gnomAD
NCI-TCGA novel	p.Gln220His	missense variant	-	NC_000004.12:g.121854762C>G	NCI-TCGA
rs751522255	p.Ile221Val	missense variant	-	NC_000004.12:g.121854761T>C	ExAC,TOPMed,gnomAD
rs751522255	p.Ile221Phe	missense variant	-	NC_000004.12:g.121854761T>A	ExAC,TOPMed,gnomAD
rs374261135	p.Thr222Ala	missense variant	-	NC_000004.12:g.121854758T>C	ESP,ExAC,TOPMed,gnomAD
rs1002646247	p.Lys225Glu	missense variant	-	NC_000004.12:g.121854749T>C	TOPMed
rs1191845801	p.Val227Ala	missense variant	-	NC_000004.12:g.121854742A>G	TOPMed
rs369866009	p.Arg228Leu	missense variant	-	NC_000004.12:g.121854739C>A	ESP,ExAC,TOPMed,gnomAD
rs762367354	p.Arg228Cys	missense variant	-	NC_000004.12:g.121854740G>A	ExAC,TOPMed,gnomAD
rs762367354	p.Arg228Gly	missense variant	-	NC_000004.12:g.121854740G>C	ExAC,TOPMed,gnomAD
rs369866009	p.Arg228His	missense variant	-	NC_000004.12:g.121854739C>T	ESP,ExAC,TOPMed,gnomAD
RCV000638354	p.Arg228His	missense variant	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121854739C>T	ClinVar
rs377194859	p.Trp230Ter	stop gained	-	NC_000004.12:g.121854732C>T	ESP,ExAC,gnomAD
rs1173134997	p.Trp230Arg	missense variant	-	NC_000004.12:g.121854734A>G	TOPMed
NCI-TCGA novel	p.Glu231Asp	missense variant	-	NC_000004.12:g.121854729T>G	NCI-TCGA
rs1187515191	p.Lys236Asn	missense variant	-	NC_000004.12:g.121854714T>G	gnomAD
rs1475525357	p.Lys237Thr	missense variant	-	NC_000004.12:g.121854712T>G	TOPMed,gnomAD
RCV000003153	p.Lys237Ter	frameshift	Bardet-Biedl syndrome 7 (BBS7)	NC_000004.12:g.121854711_121854714del	ClinVar
RCV000424630	p.Arg238Ter	frameshift	-	NC_000004.12:g.121854707_121854708CT[1]	ClinVar
RCV000820069	p.Arg238Ter	frameshift	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121854707_121854708CT[1]	ClinVar
rs775790564	p.Gly240Ser	missense variant	-	NC_000004.12:g.121854704C>T	ExAC,gnomAD
rs761403504	p.Gly240Val	missense variant	-	NC_000004.12:g.121853086C>A	ExAC,gnomAD
rs761403504	p.Gly240Asp	missense variant	-	NC_000004.12:g.121853086C>T	ExAC,gnomAD
RCV000625890	p.Gly240Asp	missense variant	Bardet-Biedl syndrome 7 (BBS7)	NC_000004.12:g.121853086C>T	ClinVar
NCI-TCGA novel	p.Ile241Val	missense variant	-	NC_000004.12:g.121853084T>C	NCI-TCGA
NCI-TCGA novel	p.Cys243Phe	missense variant	-	NC_000004.12:g.121853077C>A	NCI-TCGA
rs727503821	p.Cys243Tyr	missense variant	-	NC_000004.12:g.121853077C>T	ExAC,TOPMed,gnomAD
RCV000152845	p.Cys243Tyr	missense variant	-	NC_000004.12:g.121853077C>T	ClinVar
COSM3993427	p.Asp245Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121853071T>A	NCI-TCGA Cosmic
rs1379710604	p.Ser246Arg	missense variant	-	NC_000004.12:g.121853067G>T	TOPMed,gnomAD
rs1444684339	p.Ser246Asn	missense variant	-	NC_000004.12:g.121853068C>T	gnomAD
rs767905893	p.Ile249Thr	missense variant	-	NC_000004.12:g.121853059A>G	ExAC,gnomAD
rs767905893	p.Ile249Asn	missense variant	-	NC_000004.12:g.121853059A>T	ExAC,gnomAD
rs759886973	p.Val250Leu	missense variant	-	NC_000004.12:g.121853057C>G	ExAC,gnomAD
rs774976887	p.Gly251Asp	missense variant	-	NC_000004.12:g.121853053C>T	ExAC,gnomAD
rs774976887	p.Gly251Val	missense variant	-	NC_000004.12:g.121853053C>A	ExAC,gnomAD
COSM3599633	p.Gly253Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121853047C>T	NCI-TCGA Cosmic
RCV000782280	p.Lys255Ter	nonsense	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121853042T>A	ClinVar
NCI-TCGA novel	p.Asp256Tyr	missense variant	-	NC_000004.12:g.121853039C>A	NCI-TCGA
rs1395330140	p.Val259Leu	missense variant	-	NC_000004.12:g.121853030C>G	TOPMed,gnomAD
rs1395330140	p.Val259Ile	missense variant	-	NC_000004.12:g.121853030C>T	TOPMed,gnomAD
rs1437278443	p.Asp262Glu	missense variant	-	NC_000004.12:g.121853019A>T	gnomAD
rs932897330	p.Gly264Arg	missense variant	-	NC_000004.12:g.121853015C>T	TOPMed
rs748422861	p.Val266Ala	missense variant	-	NC_000004.12:g.121853008A>G	ExAC,gnomAD
rs1482925843	p.Val268Leu	missense variant	-	NC_000004.12:g.121853003C>G	TOPMed,gnomAD
rs1429722382	p.Ser270Asn	missense variant	-	NC_000004.12:g.121852996C>T	TOPMed
rs1348810042	p.Asp272Asn	missense variant	-	NC_000004.12:g.121852991C>T	TOPMed,gnomAD
rs754878470	p.Ala274Gly	missense variant	-	NC_000004.12:g.121852984G>C	ExAC,gnomAD
NCI-TCGA novel	p.Asn275Tyr	missense variant	-	NC_000004.12:g.121852982T>A	NCI-TCGA
rs746723917	p.Pro277Ser	missense variant	-	NC_000004.12:g.121852976G>A	ExAC,gnomAD
rs780044351	p.Val278Ile	missense variant	-	NC_000004.12:g.121852973C>T	ExAC,gnomAD
COSM732792	p.Arg280Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121852966C>A	NCI-TCGA Cosmic
rs151275562	p.Arg280Ter	stop gained	-	NC_000004.12:g.121852967G>A	ESP,ExAC,TOPMed,gnomAD
rs749970544	p.Arg280Gln	missense variant	-	NC_000004.12:g.121852966C>T	ExAC,TOPMed,gnomAD
rs1377686134	p.Phe281Tyr	missense variant	-	NC_000004.12:g.121852963A>T	gnomAD
rs764774373	p.Asp282Gly	missense variant	-	NC_000004.12:g.121852960T>C	ExAC,gnomAD
COSM4121705	p.Asp282His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121852961C>G	NCI-TCGA Cosmic
rs1315118114	p.Asp282Tyr	missense variant	-	NC_000004.12:g.121852961C>A	TOPMed,gnomAD
rs753552050	p.Gln283Glu	missense variant	-	NC_000004.12:g.121852958G>C	ExAC,TOPMed,gnomAD
rs1380142031	p.Met284Lys	missense variant	-	NC_000004.12:g.121848927A>T	gnomAD
COSM69803	p.Met284Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121848926C>G	NCI-TCGA Cosmic
rs771877302	p.Met284Ile	missense variant	-	NC_000004.12:g.121848926C>T	ExAC,gnomAD
rs750276510	p.Ser288Asn	missense variant	-	NC_000004.12:g.121848915C>T	ExAC,TOPMed,gnomAD
rs200770952	p.Val289Ile	missense variant	-	NC_000004.12:g.121848913C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000180708	p.Val289Ile	missense variant	-	NC_000004.12:g.121848913C>T	ClinVar
rs1220596256	p.Thr290Ile	missense variant	-	NC_000004.12:g.121848909G>A	TOPMed
rs777437511	p.Thr290Ala	missense variant	-	NC_000004.12:g.121848910T>C	ExAC,gnomAD
rs755678035	p.Ile292Val	missense variant	-	NC_000004.12:g.121848904T>C	ExAC,TOPMed,gnomAD
rs889417696	p.Gln293Pro	missense variant	-	NC_000004.12:g.121848900T>G	TOPMed,gnomAD
rs752375455	p.Gln293Ter	stop gained	-	NC_000004.12:g.121848901G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly298Glu	missense variant	-	NC_000004.12:g.121848885C>T	NCI-TCGA
rs1275186434	p.Lys299Glu	missense variant	-	NC_000004.12:g.121848883T>C	gnomAD
NCI-TCGA novel	p.Ser301Asn	missense variant	-	NC_000004.12:g.121848876C>T	NCI-TCGA
rs765782447	p.Ser301Ile	missense variant	-	NC_000004.12:g.121848876C>A	ExAC,gnomAD
rs1214037244	p.Tyr302Cys	missense variant	-	NC_000004.12:g.121848873T>C	TOPMed
rs1261951183	p.Asp303Val	missense variant	-	NC_000004.12:g.121848870T>A	TOPMed
rs761989949	p.Ile305Val	missense variant	-	NC_000004.12:g.121848865T>C	ExAC,gnomAD
rs768945074	p.Val306Met	missense variant	-	NC_000004.12:g.121848862C>T	ExAC,gnomAD
rs373378747	p.Val306Ala	missense variant	-	NC_000004.12:g.121848861A>G	ESP,ExAC,TOPMed,gnomAD
rs768945074	p.Val306Met	missense variant	-	NC_000004.12:g.121848862C>T	NCI-TCGA,NCI-TCGA Cosmic
rs775748328	p.Val307Met	missense variant	-	NC_000004.12:g.121848859C>T	ExAC,gnomAD
rs936386471	p.Ser308Cys	missense variant	-	NC_000004.12:g.121848855G>C	TOPMed
NCI-TCGA novel	p.Thr309Ile	missense variant	-	NC_000004.12:g.121848852G>A	NCI-TCGA
rs1002315435	p.Gly312Ala	missense variant	-	NC_000004.12:g.121847506C>G	TOPMed,gnomAD
rs1002315435	p.Gly312Val	missense variant	-	NC_000004.12:g.121847506C>A	TOPMed,gnomAD
rs750750883	p.Val314Ile	missense variant	-	NC_000004.12:g.121847501C>T	ExAC,TOPMed,gnomAD
rs765901400	p.Val314Gly	missense variant	-	NC_000004.12:g.121847500A>C	ExAC,gnomAD
rs765901400	p.Val314Ala	missense variant	-	NC_000004.12:g.121847500A>G	ExAC,gnomAD
rs1488474028	p.Thr315Ile	missense variant	-	NC_000004.12:g.121847497G>A	TOPMed
rs869025207	p.Leu317Val	missense variant	-	NC_000004.12:g.121847492G>C	-
RCV000207525	p.Leu317Val	missense variant	Bardet-Biedl syndrome 7 (BBS7)	NC_000004.12:g.121847492G>C	ClinVar
rs1194745032	p.Pro321Ser	missense variant	-	NC_000004.12:g.121847480G>A	TOPMed
rs762359988	p.Ile322Val	missense variant	-	NC_000004.12:g.121847477T>C	ExAC,TOPMed,gnomAD
RCV000003151	p.His323Arg	missense variant	Bardet-Biedl syndrome 7 (BBS7)	NC_000004.12:g.121847473T>C	ClinVar
NCI-TCGA novel	p.His323Asn	missense variant	-	NC_000004.12:g.121847474G>T	NCI-TCGA
rs119466001	p.His323Arg	missense variant	-	NC_000004.12:g.121847473T>C	ESP,ExAC,TOPMed,gnomAD
rs1438970200	p.His323Gln	missense variant	-	NC_000004.12:g.121847472A>T	gnomAD
rs1178384559	p.Lys324Glu	missense variant	-	NC_000004.12:g.121847471T>C	TOPMed
rs1255872676	p.Glu325Gly	missense variant	-	NC_000004.12:g.121847467T>C	gnomAD
rs863224815	p.Ser326Gly	missense variant	-	NC_000004.12:g.121847465T>C	-
RCV000198157	p.Ser326Gly	missense variant	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121847465T>C	ClinVar
rs898599136	p.Gly327Glu	missense variant	-	NC_000004.12:g.121847461C>T	TOPMed
rs778714139	p.Pro328Gln	missense variant	-	NC_000004.12:g.121847458G>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly329Ter	stop gained	-	NC_000004.12:g.121847456C>A	NCI-TCGA
NCI-TCGA novel	p.Gly329Val	missense variant	-	NC_000004.12:g.121847455C>A	NCI-TCGA
rs760802586	p.Gly329Glu	missense variant	-	NC_000004.12:g.121847455C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ile334Ser	missense variant	-	NC_000004.12:g.121847440A>C	NCI-TCGA
rs1352314539	p.Gln336Arg	missense variant	-	NC_000004.12:g.121847434T>C	gnomAD
COSM279131	p.Gln336His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121847433C>A	NCI-TCGA Cosmic
rs1447086082	p.Glu337Gly	missense variant	-	NC_000004.12:g.121847431T>C	gnomAD
rs767716459	p.Met338Lys	missense variant	-	NC_000004.12:g.121847428A>T	ExAC,gnomAD
rs759327238	p.Asn340Lys	missense variant	-	NC_000004.12:g.121847421A>C	ExAC,gnomAD
NCI-TCGA novel	p.Ile342Asn	missense variant	-	NC_000004.12:g.121847416A>T	NCI-TCGA
NCI-TCGA novel	p.Ser343Phe	missense variant	-	NC_000004.12:g.121847413G>A	NCI-TCGA
rs533535422	p.Arg346Trp	missense variant	-	NC_000004.12:g.121847405G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs370716101	p.Arg346Gln	missense variant	-	NC_000004.12:g.121847404C>T	ESP,ExAC,TOPMed,gnomAD
rs533535422	p.Arg346Trp	missense variant	-	NC_000004.12:g.121847405G>A	NCI-TCGA,NCI-TCGA Cosmic
RCV000173926	p.Arg346Gln	missense variant	-	NC_000004.12:g.121847404C>T	ClinVar
rs1343706484	p.Asn347Ser	missense variant	-	NC_000004.12:g.121845694T>C	gnomAD
rs575431546	p.Glu348Gly	missense variant	-	NC_000004.12:g.121845691T>C	1000Genomes,ExAC,gnomAD
rs769707690	p.Leu349Ser	missense variant	-	NC_000004.12:g.121845688A>G	ExAC,gnomAD
rs940315256	p.His351Arg	missense variant	-	NC_000004.12:g.121845682T>C	TOPMed
COSM1426636	p.Gln353Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.121845677G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln353Lys	missense variant	-	NC_000004.12:g.121845677G>T	NCI-TCGA
RCV000296638	p.Tyr354Ter	nonsense	-	NC_000004.12:g.121845671_121845672TA[1]	ClinVar
rs773139166	p.TyrLys354Ter	stop gained	-	NC_000004.12:g.121845673_121845674del	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr354Phe	missense variant	-	NC_000004.12:g.121845673T>A	NCI-TCGA
rs1418988571	p.Tyr354Cys	missense variant	-	NC_000004.12:g.121845673T>C	gnomAD
RCV000696169	p.Tyr354Ter	nonsense	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121845671_121845672TA[1]	ClinVar
rs1003833738	p.Lys355Asn	missense variant	-	NC_000004.12:g.121845669C>G	TOPMed
NCI-TCGA novel	p.Lys355Gln	missense variant	-	NC_000004.12:g.121845671T>G	NCI-TCGA
rs906692940	p.Leu357Val	missense variant	-	NC_000004.12:g.121845665A>C	TOPMed,gnomAD
NCI-TCGA novel	p.Gln358Arg	missense variant	-	NC_000004.12:g.121845661T>C	NCI-TCGA
rs768257998	p.Gln358Ter	stop gained	-	NC_000004.12:g.121845662G>A	ExAC,gnomAD
rs1341476530	p.Glu359Gln	missense variant	-	NC_000004.12:g.121845659C>G	gnomAD
NCI-TCGA novel	p.Glu361Asp	missense variant	-	NC_000004.12:g.121845651C>A	NCI-TCGA
rs746699644	p.Gln364Pro	missense variant	-	NC_000004.12:g.121845643T>G	ExAC,gnomAD
NCI-TCGA novel	p.Gln364Glu	missense variant	-	NC_000004.12:g.121845644G>C	NCI-TCGA
rs1447092711	p.Gln365Leu	missense variant	-	NC_000004.12:g.121845640T>A	gnomAD
rs200373010	p.Ser366Phe	missense variant	-	NC_000004.12:g.121845637G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs993848396	p.Gln368Ter	stop gained	-	NC_000004.12:g.121845632G>A	TOPMed
rs757752432	p.Ser369Leu	missense variant	-	NC_000004.12:g.121845628G>A	ExAC,TOPMed,gnomAD
rs1273560318	p.Ser374Ter	stop gained	-	NC_000004.12:g.121845613G>C	gnomAD
rs896927309	p.Ala375Thr	missense variant	-	NC_000004.12:g.121845611C>T	TOPMed,gnomAD
rs749603454	p.Ala375Glu	missense variant	-	NC_000004.12:g.121845610G>T	ExAC,TOPMed,gnomAD
rs749603454	p.Ala375Val	missense variant	-	NC_000004.12:g.121845610G>A	ExAC,TOPMed,gnomAD
COSM3599632	p.Ser378Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121845601G>A	NCI-TCGA Cosmic
rs778142384	p.Phe379Ser	missense variant	-	NC_000004.12:g.121845598A>G	ExAC,gnomAD
rs483352770	p.Phe379Val	missense variant	-	NC_000004.12:g.121845599A>C	-
RCV000087255	p.Phe379Val	missense variant	-	NC_000004.12:g.121845599A>C	ClinVar
COSM4405481	p.Gly380Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121845596C>A	NCI-TCGA Cosmic
rs374288473	p.Ile381Thr	missense variant	-	NC_000004.12:g.121845592A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3599631	p.Phe385Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121845580A>C	NCI-TCGA Cosmic
rs1463453322	p.Leu387Val	missense variant	-	NC_000004.12:g.121845575G>C	gnomAD
rs1395880922	p.Asn388His	missense variant	-	NC_000004.12:g.121845572T>G	gnomAD
rs755048211	p.Asn388Ser	missense variant	-	NC_000004.12:g.121845571T>C	ExAC,gnomAD
rs1357945398	p.Asp391Glu	missense variant	-	NC_000004.12:g.121845561A>T	gnomAD
rs751840085	p.Ala392Thr	missense variant	-	NC_000004.12:g.121845560C>T	ExAC,gnomAD
rs889491713	p.Ser395Asn	missense variant	-	NC_000004.12:g.121845550C>T	TOPMed,gnomAD
rs766531821	p.Ser395Gly	missense variant	-	NC_000004.12:g.121845551T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ile397Met	missense variant	-	NC_000004.12:g.121845543G>C	NCI-TCGA
rs1469727579	p.Glu399Ala	missense variant	-	NC_000004.12:g.121845538T>G	gnomAD
rs1273741713	p.Glu399Asp	missense variant	-	NC_000004.12:g.121845537C>G	gnomAD
rs750193367	p.Val400Ile	missense variant	-	NC_000004.12:g.121845536C>T	ExAC,gnomAD
rs765109765	p.Gln401Lys	missense variant	-	NC_000004.12:g.121845533G>T	ExAC,TOPMed,gnomAD
rs761858167	p.Ala403Thr	missense variant	-	NC_000004.12:g.121845527C>T	ExAC,gnomAD
rs180798213	p.Ile404Thr	missense variant	-	NC_000004.12:g.121845523A>G	1000Genomes,gnomAD
rs776401951	p.Asp405Gly	missense variant	-	NC_000004.12:g.121845520T>C	ExAC,gnomAD
rs768345924	p.Val407Ile	missense variant	-	NC_000004.12:g.121845515C>T	ExAC,TOPMed,gnomAD
rs775291495	p.Ile409Met	missense variant	-	NC_000004.12:g.121845507T>C	ExAC,gnomAD
rs775291495	p.Ile409Met	missense variant	-	NC_000004.12:g.121845507T>C	NCI-TCGA,NCI-TCGA Cosmic
rs111442398	p.Asp412Gly	missense variant	-	NC_000004.12:g.121843997T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000333622	p.Asp412Tyr	missense variant	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121843998C>A	ClinVar
RCV000762107	p.Asp412Gly	missense variant	-	NC_000004.12:g.121843997T>C	ClinVar
rs758567781	p.Asp412Tyr	missense variant	-	NC_000004.12:g.121843998C>A	ExAC,TOPMed,gnomAD
rs761509035	p.Asp412Glu	missense variant	-	NC_000004.12:g.121843996A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val413Ala	missense variant	-	NC_000004.12:g.121843994A>G	NCI-TCGA
rs1299054607	p.Ile415Val	missense variant	-	NC_000004.12:g.121843989T>C	gnomAD
rs1402786625	p.Ile415Thr	missense variant	-	NC_000004.12:g.121843988A>G	TOPMed
NCI-TCGA novel	p.Leu417Val	missense variant	-	NC_000004.12:g.121843983A>C	NCI-TCGA
rs1447805758	p.Leu417Phe	missense variant	-	NC_000004.12:g.121843981T>A	gnomAD
rs1374407416	p.Leu418Val	missense variant	-	NC_000004.12:g.121843980G>C	gnomAD
rs146412602	p.Asp421Glu	missense variant	-	NC_000004.12:g.121843969A>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser424Phe	missense variant	-	NC_000004.12:g.121843961G>A	NCI-TCGA
rs1354556720	p.Ser428Asn	missense variant	-	NC_000004.12:g.121843949C>T	gnomAD
rs760264160	p.Phe429Leu	missense variant	-	NC_000004.12:g.121843945A>T	ExAC,gnomAD
rs149880614	p.Phe429Val	missense variant	-	NC_000004.12:g.121843947A>C	ESP
rs764064171	p.Phe429Cys	missense variant	-	NC_000004.12:g.121843946A>C	ExAC,gnomAD
RCV000494276	p.Phe429Val	missense variant	-	NC_000004.12:g.121843947A>C	ClinVar
rs1410107664	p.Ser430Asn	missense variant	-	NC_000004.12:g.121843943C>T	gnomAD
rs1265041299	p.Ser431Arg	missense variant	-	NC_000004.12:g.121843941T>G	gnomAD
rs1177500936	p.Asp433Tyr	missense variant	-	NC_000004.12:g.121843935C>A	gnomAD
NCI-TCGA novel	p.Ser434Thr	missense variant	-	NC_000004.12:g.121843932A>T	NCI-TCGA
rs775096414	p.Ser434Pro	missense variant	-	NC_000004.12:g.121843932A>G	ExAC
rs758958242	p.Asp438Asn	missense variant	-	NC_000004.12:g.121839690C>T	ExAC,gnomAD
rs758958242	p.Asp438Tyr	missense variant	-	NC_000004.12:g.121839690C>A	ExAC,gnomAD
rs1213576339	p.Asn439Ser	missense variant	-	NC_000004.12:g.121839686T>C	TOPMed,gnomAD
rs372278767	p.Leu442Pro	missense variant	-	NC_000004.12:g.121839677A>G	ESP,ExAC,gnomAD
rs762270446	p.Ala443Thr	missense variant	-	NC_000004.12:g.121839675C>T	ExAC,TOPMed,gnomAD
rs1240144741	p.Thr444Ile	missense variant	-	NC_000004.12:g.121839671G>A	TOPMed
rs776931328	p.Tyr445Cys	missense variant	-	NC_000004.12:g.121839668T>C	ExAC,gnomAD
rs1234317489	p.Tyr445Ter	stop gained	-	NC_000004.12:g.121839667A>T	TOPMed,gnomAD
rs372685495	p.Arg446Gln	missense variant	-	NC_000004.12:g.121839665C>T	NCI-TCGA
rs372685495	p.Arg446Gln	missense variant	-	NC_000004.12:g.121839665C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs768987725	p.Arg446Trp	missense variant	-	NC_000004.12:g.121839666G>A	ExAC,TOPMed,gnomAD
rs768987725	p.Arg446Trp	missense variant	-	NC_000004.12:g.121839666G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1473005529	p.Gln448His	missense variant	-	NC_000004.12:g.121839658C>G	TOPMed
rs1363452321	p.Thr451Ile	missense variant	-	NC_000004.12:g.121839650G>A	gnomAD
rs1164719652	p.Thr452Ile	missense variant	-	NC_000004.12:g.121839647G>A	TOPMed
NCI-TCGA novel	p.Arg453Lys	missense variant	-	NC_000004.12:g.121839644C>T	NCI-TCGA
rs1392235356	p.Leu456His	missense variant	-	NC_000004.12:g.121839635A>T	gnomAD
rs150743868	p.Arg459Gly	missense variant	-	NC_000004.12:g.121835280G>C	ESP,ExAC,TOPMed,gnomAD
rs150743868	p.Arg459Ser	missense variant	-	NC_000004.12:g.121835280G>T	ESP,ExAC,TOPMed,gnomAD
rs764507388	p.Arg459His	missense variant	-	NC_000004.12:g.121835279C>T	ExAC,TOPMed,gnomAD
rs150743868	p.Arg459Cys	missense variant	-	NC_000004.12:g.121835280G>A	ESP,ExAC,TOPMed,gnomAD
rs150743868	p.Arg459Cys	missense variant	-	NC_000004.12:g.121835280G>A	NCI-TCGA,NCI-TCGA Cosmic
RCV000787793	p.Arg459Cys	missense variant	Retinitis pigmentosa (RP)	NC_000004.12:g.121835280G>A	ClinVar
NCI-TCGA novel	p.Ser460Ter	stop gained	-	NC_000004.12:g.121835276G>C	NCI-TCGA
rs761013253	p.Ser460Leu	missense variant	-	NC_000004.12:g.121835276G>A	ExAC,gnomAD
rs761013253	p.Ser460Leu	missense variant	-	NC_000004.12:g.121835276G>A	NCI-TCGA
rs141224967	p.Ile461Val	missense variant	-	NC_000004.12:g.121835274T>C	ESP,ExAC,TOPMed,gnomAD
rs772391575	p.Gly463Ser	missense variant	-	NC_000004.12:g.121835268C>T	ExAC,gnomAD
rs940530839	p.Gln464Pro	missense variant	-	NC_000004.12:g.121835264T>G	TOPMed
rs1274919687	p.Tyr465Cys	missense variant	-	NC_000004.12:g.121835261T>C	gnomAD
COSM4121704	p.Gly466Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121835258C>T	NCI-TCGA Cosmic
rs774242550	p.Thr467Ala	missense variant	-	NC_000004.12:g.121835256T>C	ExAC,gnomAD
rs1214474974	p.Ala470Thr	missense variant	-	NC_000004.12:g.121835247C>T	gnomAD
rs1305038633	p.Ala470Val	missense variant	-	NC_000004.12:g.121835246G>A	gnomAD
RCV000638355	p.Tyr471Ter	nonsense	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121835242A>T	ClinVar
NCI-TCGA novel	p.Tyr471Cys	missense variant	-	NC_000004.12:g.121835243T>C	NCI-TCGA
rs991365297	p.Tyr471Ter	stop gained	-	NC_000004.12:g.121835242A>T	-
rs1337215882	p.Pro474Ser	missense variant	-	NC_000004.12:g.121835235G>A	gnomAD
rs771018739	p.Pro474Arg	missense variant	-	NC_000004.12:g.121835234G>C	ExAC,TOPMed,gnomAD
COSM1050584	p.Arg475Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121835231C>A	NCI-TCGA Cosmic
rs749558405	p.Arg475Gly	missense variant	-	NC_000004.12:g.121835232T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gln477Ter	stop gained	-	NC_000004.12:g.121835226G>A	NCI-TCGA
COSM3974691	p.Pro478His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121835222G>T	NCI-TCGA Cosmic
RCV000368544	p.Cys481Tyr	missense variant	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121835213C>T	ClinVar
rs886059053	p.Cys481Tyr	missense variant	-	NC_000004.12:g.121835213C>T	gnomAD
rs778131042	p.Gln482Arg	missense variant	-	NC_000004.12:g.121835210T>C	ExAC,gnomAD
NCI-TCGA novel	p.Val483Ile	missense variant	-	NC_000004.12:g.121835208C>T	NCI-TCGA
rs200720761	p.Arg484Pro	missense variant	-	NC_000004.12:g.121835204C>G	1000Genomes,ExAC,gnomAD
rs200720761	p.Arg484His	missense variant	-	NC_000004.12:g.121835204C>T	1000Genomes,ExAC,gnomAD
rs747889031	p.Arg484Cys	missense variant	-	NC_000004.12:g.121835205G>A	ExAC,TOPMed,gnomAD
rs200720761	p.Arg484His	missense variant	-	NC_000004.12:g.121835204C>T	NCI-TCGA
rs751492575	p.Gln485Arg	missense variant	-	NC_000004.12:g.121835201T>C	ExAC,gnomAD
rs1470030897	p.Tyr486Ter	stop gained	-	NC_000004.12:g.121835197G>C	TOPMed,gnomAD
RCV000778718	p.Tyr486Ter	nonsense	Bardet-Biedl syndrome 7 (BBS7)	NC_000004.12:g.121835197G>T	ClinVar
rs1362604237	p.His487Pro	missense variant	-	NC_000004.12:g.121835195T>G	gnomAD
rs907917156	p.Ile488Asn	missense variant	-	NC_000004.12:g.121835192A>T	TOPMed
rs575924592	p.Lys489Arg	missense variant	-	NC_000004.12:g.121835189T>C	TOPMed
rs575924592	p.Lys489Arg	missense variant	-	NC_000004.12:g.121835189T>C	NCI-TCGA,NCI-TCGA Cosmic
rs779471980	p.Pro490Leu	missense variant	-	NC_000004.12:g.121835186G>A	NCI-TCGA,NCI-TCGA Cosmic
rs779471980	p.Pro490Leu	missense variant	-	NC_000004.12:g.121835186G>A	ExAC,gnomAD
COSM4932724	p.His494Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121835174T>C	NCI-TCGA Cosmic
rs750133083	p.Arg496Ile	missense variant	-	NC_000004.12:g.121835168C>A	NCI-TCGA,NCI-TCGA Cosmic
rs750133083	p.Arg496Ile	missense variant	-	NC_000004.12:g.121835168C>A	ExAC,TOPMed,gnomAD
rs761031900	p.His498Tyr	missense variant	-	NC_000004.12:g.121835163G>A	ExAC,gnomAD
rs114718913	p.His502Arg	missense variant	-	NC_000004.12:g.121835150T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000709647	p.His502Arg	missense variant	Bardet-Biedl syndrome 1 (BBS1)	NC_000004.12:g.121835150T>C	ClinVar
rs773379860	p.Pro505Leu	missense variant	-	NC_000004.12:g.121833393G>A	ExAC,gnomAD
rs763160690	p.Pro505Ser	missense variant	-	NC_000004.12:g.121833394G>A	ExAC,gnomAD
rs200788672	p.Met506Thr	missense variant	-	NC_000004.12:g.121833390A>G	ExAC,gnomAD
COSM268746	p.Asn507Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121833387T>C	NCI-TCGA Cosmic
rs547777095	p.Thr508Ile	missense variant	-	NC_000004.12:g.121833384G>A	1000Genomes
rs768395699	p.Leu509Met	missense variant	-	NC_000004.12:g.121833382G>T	ExAC,gnomAD
NCI-TCGA novel	p.Thr512Ile	missense variant	-	NC_000004.12:g.121833372G>A	NCI-TCGA
rs1465262524	p.Gly513Ser	missense variant	-	NC_000004.12:g.121833370C>T	TOPMed,gnomAD
rs1465262524	p.Gly513Arg	missense variant	-	NC_000004.12:g.121833370C>G	TOPMed,gnomAD
COSM6166128	p.Phe515Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121833362G>C	NCI-TCGA Cosmic
rs1252305452	p.Ala518Ser	missense variant	-	NC_000004.12:g.121833355C>A	gnomAD
rs1211533033	p.Val520Ile	missense variant	-	NC_000004.12:g.121833349C>T	gnomAD
rs911151078	p.His521Tyr	missense variant	-	NC_000004.12:g.121833346G>A	TOPMed
rs1232896835	p.Val524Met	missense variant	-	NC_000004.12:g.121833337C>T	TOPMed
rs746759579	p.Val525Gly	missense variant	-	NC_000004.12:g.121833333A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Cys527ValPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.121833328A>-	NCI-TCGA
rs779858648	p.Leu528Val	missense variant	-	NC_000004.12:g.121833325G>C	ExAC,gnomAD
rs771957843	p.Pro529Ser	missense variant	-	NC_000004.12:g.121833322G>A	ExAC,TOPMed,gnomAD
rs745404021	p.Glu530Gly	missense variant	-	NC_000004.12:g.121833318T>C	ExAC,gnomAD
rs778439860	p.Val531Ala	missense variant	-	NC_000004.12:g.121833315A>G	ExAC,gnomAD
rs1445596717	p.Lys534Thr	missense variant	-	NC_000004.12:g.121833306T>G	TOPMed
RCV000263459	p.Pro535Thr	missense variant	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121833304G>T	ClinVar
rs143700362	p.Pro535Thr	missense variant	-	NC_000004.12:g.121833304G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM732794	p.Cys540Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121833288C>T	NCI-TCGA Cosmic
rs1350799770	p.Val541Gly	missense variant	-	NC_000004.12:g.121833285A>C	gnomAD
COSM4121703	p.Phe543Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121833278A>C	NCI-TCGA Cosmic
rs1328662883	p.Phe543Ile	missense variant	-	NC_000004.12:g.121833280A>T	gnomAD
rs1408961454	p.Thr548Ile	missense variant	-	NC_000004.12:g.121833264G>A	gnomAD
rs755304231	p.Phe549Ser	missense variant	-	NC_000004.12:g.121833261A>G	ExAC,gnomAD
rs1388581637	p.Asp551Glu	missense variant	-	NC_000004.12:g.121833254A>T	TOPMed
COSM4121702	p.Gln553Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.121833250G>A	NCI-TCGA Cosmic
rs1394015094	p.Gln553Glu	missense variant	-	NC_000004.12:g.121833250G>C	gnomAD
rs960715669	p.Leu554Phe	missense variant	-	NC_000004.12:g.121833247G>A	TOPMed
NCI-TCGA novel	p.Ser556Asn	missense variant	-	NC_000004.12:g.121833240C>T	NCI-TCGA
rs1489448712	p.Thr557Ile	missense variant	-	NC_000004.12:g.121833237G>A	TOPMed,gnomAD
rs748768695	p.Arg559Ser	missense variant	-	NC_000004.12:g.121828728T>G	ExAC,gnomAD
rs777324298	p.Glu562Asp	missense variant	-	NC_000004.12:g.121828719C>G	ExAC,gnomAD
rs1344909042	p.Glu562Gln	missense variant	-	NC_000004.12:g.121828721C>G	TOPMed,gnomAD
rs1313233395	p.Val564Leu	missense variant	-	NC_000004.12:g.121828715C>G	gnomAD
rs1463083357	p.Val564Ala	missense variant	-	NC_000004.12:g.121828714A>G	TOPMed
rs1300498197	p.Phe565Leu	missense variant	-	NC_000004.12:g.121828710A>T	TOPMed
rs1352712576	p.Asp568Asn	missense variant	-	NC_000004.12:g.121828703C>T	gnomAD
rs747737287	p.Asp568Glu	missense variant	-	NC_000004.12:g.121828701G>C	ExAC,gnomAD
rs1415912302	p.Asn569Ser	missense variant	-	NC_000004.12:g.121828699T>C	TOPMed
rs878853352	p.Ser571Ter	stop gained	-	NC_000004.12:g.121828692_121828693delinsTCT	-
rs776691595	p.Ser571TerThr	stop gained	-	NC_000004.12:g.121828693_121828694insTCT	ExAC,gnomAD
rs1295543172	p.Ser571Tyr	missense variant	-	NC_000004.12:g.121828693G>T	TOPMed
RCV000225449	p.Ser571Ter	nonsense	Retinal dystrophy	NC_000004.12:g.121828692_121828693delinsTCT	ClinVar
rs1309413444	p.Thr572Ile	missense variant	-	NC_000004.12:g.121828690G>A	TOPMed
rs751029709	p.Ile573Val	missense variant	-	NC_000004.12:g.121828688T>C	ExAC,TOPMed,gnomAD
rs765782762	p.Ser574Cys	missense variant	-	NC_000004.12:g.121828684G>C	ExAC,TOPMed,gnomAD
rs765782762	p.Ser574Phe	missense variant	-	NC_000004.12:g.121828684G>A	ExAC,TOPMed,gnomAD
rs200953128	p.Lys577Gln	missense variant	-	NC_000004.12:g.121828676T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs200953128	p.Lys577Glu	missense variant	-	NC_000004.12:g.121828676T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs764244818	p.Val579Ala	missense variant	-	NC_000004.12:g.121828669A>G	ExAC,TOPMed,gnomAD
rs761005946	p.Leu580Arg	missense variant	-	NC_000004.12:g.121828666A>C	ExAC,gnomAD
rs775655387	p.Thr585Ala	missense variant	-	NC_000004.12:g.121828652T>C	ExAC,gnomAD
rs767363576	p.Thr585Ile	missense variant	-	NC_000004.12:g.121828651G>A	ExAC,gnomAD
rs1429923689	p.Ile589Val	missense variant	-	NC_000004.12:g.121828640T>C	TOPMed
rs1173402541	p.Ile589Thr	missense variant	-	NC_000004.12:g.121828639A>G	TOPMed
rs774282290	p.Ser594Pro	missense variant	-	NC_000004.12:g.121828625A>G	ExAC,gnomAD
rs756139233	p.Glu596Asp	missense variant	-	NC_000004.12:g.121828504C>A	ExAC,TOPMed,gnomAD
rs754277167	p.Glu596Gly	missense variant	-	NC_000004.12:g.121828505T>C	ExAC,gnomAD
rs1233058112	p.Glu596Lys	missense variant	-	NC_000004.12:g.121828619C>T	gnomAD
rs759359910	p.His610Asn	missense variant	-	NC_000004.12:g.121828464G>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu614Lys	missense variant	-	NC_000004.12:g.121828452C>T	NCI-TCGA
rs1454342577	p.Tyr615Cys	missense variant	-	NC_000004.12:g.121828448T>C	TOPMed
rs1394048718	p.Tyr615His	missense variant	-	NC_000004.12:g.121828449A>G	TOPMed
COSM4121701	p.Gln616Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121828445T>C	NCI-TCGA Cosmic
rs751309863	p.Gln616His	missense variant	-	NC_000004.12:g.121828444C>A	ExAC,gnomAD
rs766069591	p.Leu618Pro	missense variant	-	NC_000004.12:g.121828439A>G	ExAC,gnomAD
rs773019785	p.Ala620Thr	missense variant	-	NC_000004.12:g.121828434C>T	ExAC,gnomAD
rs1193524307	p.Val623Gly	missense variant	-	NC_000004.12:g.121828424A>C	gnomAD
NCI-TCGA novel	p.Asp627Asn	missense variant	-	NC_000004.12:g.121828413C>T	NCI-TCGA
NCI-TCGA novel	p.Glu631AsnPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.121828402T>-	NCI-TCGA
rs774997736	p.Gln633His	missense variant	-	NC_000004.12:g.121828261C>G	ExAC,TOPMed,gnomAD
rs774997736	p.Gln633His	missense variant	-	NC_000004.12:g.121828261C>A	ExAC,TOPMed,gnomAD
rs1233960628	p.His635Leu	missense variant	-	NC_000004.12:g.121828256T>A	TOPMed,gnomAD
rs1233960628	p.His635Arg	missense variant	-	NC_000004.12:g.121828256T>C	TOPMed,gnomAD
rs1286277611	p.Glu636Ala	missense variant	-	NC_000004.12:g.121828253T>G	gnomAD
NCI-TCGA novel	p.Glu636AspPheSerTerUnk	frameshift	-	NC_000004.12:g.121828252_121828253insAAGGA	NCI-TCGA
rs771380744	p.Glu636Lys	missense variant	-	NC_000004.12:g.121828254C>T	ExAC,gnomAD
rs773771144	p.Thr639Met	missense variant	-	NC_000004.12:g.121828244G>A	ExAC,TOPMed,gnomAD
rs748634596	p.Phe641Leu	missense variant	-	NC_000004.12:g.121828237A>C	ExAC,TOPMed,gnomAD
rs748634596	p.Phe641Leu	missense variant	-	NC_000004.12:g.121828237A>T	ExAC,TOPMed,gnomAD
rs1173638115	p.Leu642Pro	missense variant	-	NC_000004.12:g.121828235A>G	gnomAD
rs907255739	p.Pro644Leu	missense variant	-	NC_000004.12:g.121828229G>A	TOPMed
rs1453757241	p.Pro644Ala	missense variant	-	NC_000004.12:g.121828230G>C	gnomAD
RCV000297219	p.Cys648Gly	missense variant	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121828218A>C	ClinVar
rs201096775	p.Cys648Gly	missense variant	-	NC_000004.12:g.121828218A>C	ExAC,TOPMed,gnomAD
rs747314114	p.Ile649Val	missense variant	-	NC_000004.12:g.121828215T>C	ExAC,gnomAD
rs138212739	p.Ile649Thr	missense variant	-	NC_000004.12:g.121828214A>G	ESP,TOPMed,gnomAD
rs1040978407	p.Glu652Asp	missense variant	-	NC_000004.12:g.121828204C>G	TOPMed
rs1257744159	p.Asp654Glu	missense variant	-	NC_000004.12:g.121828198A>T	gnomAD
rs143632090	p.Asp654His	missense variant	-	NC_000004.12:g.121828200C>G	ESP,ExAC,TOPMed,gnomAD
rs1335128724	p.His655Arg	missense variant	-	NC_000004.12:g.121828196T>C	TOPMed
rs758219185	p.Leu656Pro	missense variant	-	NC_000004.12:g.121828193A>G	ExAC,TOPMed,gnomAD
RCV000149506	p.Leu656Ter	frameshift	Bardet-Biedl syndrome 7 (BBS7)	NC_000004.12:g.121828192_121828193delinsG	ClinVar
rs1044486579	p.Glu658Lys	missense variant	-	NC_000004.12:g.121828188C>T	TOPMed
NCI-TCGA novel	p.Glu659Ter	stop gained	-	NC_000004.12:g.121828185C>A	NCI-TCGA
rs113786007	p.Glu659Gln	missense variant	-	NC_000004.12:g.121828185C>G	TOPMed
rs765240912	p.Tyr660Asp	missense variant	-	NC_000004.12:g.121828182A>C	ExAC,gnomAD
rs765240912	p.Tyr660His	missense variant	-	NC_000004.12:g.121828182A>G	ExAC,gnomAD
rs757308523	p.Tyr660Cys	missense variant	-	NC_000004.12:g.121828181T>C	ExAC,gnomAD
rs1292881522	p.Lys662Asn	missense variant	-	NC_000004.12:g.121828174C>A	gnomAD
RCV000198339	p.Lys662Ter	frameshift	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121828172_121828174delinsA	ClinVar
rs375084239	p.Pro664Leu	missense variant	-	NC_000004.12:g.121828169G>A	ESP,ExAC,TOPMed,gnomAD
rs980757532	p.Ala665Thr	missense variant	-	NC_000004.12:g.121828167C>T	TOPMed
rs1342336710	p.His666Tyr	missense variant	-	NC_000004.12:g.121828164G>A	TOPMed,gnomAD
rs1334998246	p.Leu667Pro	missense variant	-	NC_000004.12:g.121828160A>G	gnomAD
NCI-TCGA novel	p.Leu667Ile	missense variant	-	NC_000004.12:g.121828161G>T	NCI-TCGA
NCI-TCGA novel	p.Glu668Lys	missense variant	-	NC_000004.12:g.121828158C>T	NCI-TCGA
rs1013002037	p.Tyr671Cys	missense variant	-	NC_000004.12:g.121828148T>C	TOPMed
rs1436556570	p.Met673Leu	missense variant	-	NC_000004.12:g.121825991T>A	TOPMed,gnomAD
rs1436556570	p.Met673Val	missense variant	-	NC_000004.12:g.121825991T>C	TOPMed,gnomAD
rs548020763	p.Ile674Thr	missense variant	-	NC_000004.12:g.121825987A>G	1000Genomes,ExAC,gnomAD
rs1322004930	p.Thr675Asn	missense variant	-	NC_000004.12:g.121825984G>T	gnomAD
rs1403176454	p.Leu677Val	missense variant	-	NC_000004.12:g.121825979G>C	gnomAD
rs1163284205	p.Ile679Val	missense variant	-	NC_000004.12:g.121825973T>C	gnomAD
rs534408910	p.Lys681Ile	missense variant	-	NC_000004.12:g.121825966T>A	1000Genomes,ExAC,gnomAD
rs753884144	p.Phe682Leu	missense variant	-	NC_000004.12:g.121825962A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe682Cys	missense variant	-	NC_000004.12:g.121825963A>C	NCI-TCGA
NCI-TCGA novel	p.Phe684Val	missense variant	-	NC_000004.12:g.121825958A>C	NCI-TCGA
rs1027779461	p.Gly686Asp	missense variant	-	NC_000004.12:g.121825951C>T	TOPMed,gnomAD
rs764064252	p.Thr687Ile	missense variant	-	NC_000004.12:g.121825948G>A	ExAC,gnomAD
rs370656021	p.Asn688Ser	missense variant	-	NC_000004.12:g.121825945T>C	ESP,ExAC,TOPMed,gnomAD
rs370656021	p.Asn688Thr	missense variant	-	NC_000004.12:g.121825945T>G	ESP,ExAC,TOPMed,gnomAD
RCV000175491	p.Asn688Ser	missense variant	-	NC_000004.12:g.121825945T>C	ClinVar
RCV000168181	p.Asn688Ser	missense variant	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121825945T>C	ClinVar
rs377643507	p.Lys690Asn	missense variant	-	NC_000004.12:g.121825938T>A	ESP,TOPMed,gnomAD
COSM4926271	p.Lys692Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121825934T>C	NCI-TCGA Cosmic
rs767033569	p.Pro694Leu	missense variant	-	NC_000004.12:g.121825927G>A	ExAC,TOPMed,gnomAD
rs752107050	p.Pro694Ser	missense variant	-	NC_000004.12:g.121825928G>A	ExAC,gnomAD
rs752107050	p.Pro694Thr	missense variant	-	NC_000004.12:g.121825928G>T	ExAC,gnomAD
rs767033569	p.Pro694His	missense variant	-	NC_000004.12:g.121825927G>T	ExAC,TOPMed,gnomAD
rs1230557549	p.Leu696Val	missense variant	-	NC_000004.12:g.121825922G>C	TOPMed
NCI-TCGA novel	p.Leu700Met	missense variant	-	NC_000004.12:g.121825910G>T	NCI-TCGA
NCI-TCGA novel	p.Asp701Asn	missense variant	-	NC_000004.12:g.121825907C>T	NCI-TCGA
rs1276357526	p.Ser702Ile	missense variant	-	NC_000004.12:g.121825903C>A	TOPMed
rs1229720963	p.Ser702Arg	missense variant	-	NC_000004.12:g.121825902A>C	gnomAD
rs375825705	p.Tyr703Cys	missense variant	-	NC_000004.12:g.121825900T>C	ESP,ExAC,TOPMed,gnomAD
rs765649058	p.Gln705Arg	missense variant	-	NC_000004.12:g.121825894T>C	ExAC,gnomAD
rs1439080391	p.Asn706Ser	missense variant	-	NC_000004.12:g.121825891T>C	gnomAD
COSM1050582	p.Ala707Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121825889C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala707Val	missense variant	-	NC_000004.12:g.121825888G>A	NCI-TCGA
NCI-TCGA novel	p.Leu708Phe	missense variant	-	NC_000004.12:g.121825884C>A	NCI-TCGA
NCI-TCGA novel	p.Leu708Ser	missense variant	-	NC_000004.12:g.121825885A>G	NCI-TCGA
rs762111748	p.Ile709Leu	missense variant	-	NC_000004.12:g.121825883T>G	ExAC,TOPMed
COSM177283	p.Phe711Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121825875G>T	NCI-TCGA Cosmic
rs1257462399	p.Phe711Leu	missense variant	-	NC_000004.12:g.121825875G>C	TOPMed
rs199782217	p.Phe712Leu	missense variant	-	NC_000004.12:g.121825872G>C	1000Genomes,ExAC,gnomAD
rs371449601	p.Asp713Asn	missense variant	-	NC_000004.12:g.121825871C>T	ESP,ExAC,gnomAD
rs775478831	p.Ala714Glu	missense variant	-	NC_000004.12:g.121825867G>T	ExAC,TOPMed,gnomAD
rs200470633	p.Ter716Arg	stop lost	-	NC_000004.12:g.121825862A>G	ESP,ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0020538	Hypertensive disease	group	HPO
C0020619	Hypogonadism	disease	HPO
C0020796	Profound Mental Retardation	disease	CTD_human
C0025362	Mental Retardation	disease	HPO
C0025363	Mental Retardation, Psychosocial	disease	CTD_human
C0028738	Nystagmus	disease	HPO
C0028754	Obesity	disease	HPO
C0035334	Retinitis Pigmentosa	disease	HPO
C0152427	Polydactyly	disease	GENOMICS_ENGLAND;HPO
C0266435	Congenital hypoplasia of penis	disease	HPO
C0266453	Exencephaly	disease	BEFREE
C0349588	Short stature	phenotype	HPO
C0369183	Erythrocyte Mean Corpuscular Hemoglobin Test	phenotype	GWASDB
C0423903	Low intelligence	phenotype	HPO
C0431904	Ulnar polydactyly of fingers	disease	HPO
C0476397	Electroretinogram abnormal	phenotype	HPO
C0497247	Increase in blood pressure	phenotype	HPO
C0685840	Congenital hypoplasia of ovary	disease	HPO
C0752166	Bardet-Biedl Syndrome	disease	BEFREE;CLINVAR;LHGDN;ORPHANET
C0854723	Retinal Dystrophies	group	CLINVAR
C0917816	Mental deficiency	disease	CTD_human;HPO
C1261502	Finding of Mean Corpuscular Hemoglobin	phenotype	GWASDB
C1835452	Hypoplastic ovary	phenotype	HPO
C1843367	Poor school performance	phenotype	HPO
C1855333	External genital hypoplasia	phenotype	HPO
C1859565	BARDET-BIEDL SYNDROME 7	disease	CLINVAR;CTD_human;UNIPROT
C3714581	Multicystic Dysplastic Kidney	disease	HPO
C3714756	Intellectual Disability	group	CTD_human;GENOMICS_ENGLAND;HPO
C4016435	BARDET-BIEDL SYNDROME 1/7, DIGENIC	phenotype	CLINVAR
C4020876	Dull intelligence	phenotype	HPO
C4277690	Ciliopathies	group	GENOMICS_ENGLAND

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0001103	RNA polymerase II repressing transcription factor binding	IPI
GO:0005515	protein binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001654	eye development	IEA
GO:0001947	heart looping	ISS
GO:0006357	regulation of transcription by RNA polymerase II	IPI
GO:0007224	smoothened signaling pathway	IEA
GO:0007368	determination of left/right symmetry	ISS
GO:0007420	brain development	IEA
GO:0007601	visual perception	IEA
GO:0008104	protein localization	IBA
GO:0015031	protein transport	IEA
GO:0032402	melanosome transport	ISS
GO:0032436	positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IPI
GO:0045444	fat cell differentiation	ISS
GO:0046907	intracellular transport	IBA
GO:0048546	digestive tract morphogenesis	ISS
GO:0051877	pigment granule aggregation in cell center	ISS
GO:0060173	limb development	IEA
GO:0060271	cilium assembly	ISS
GO:0060271	cilium assembly	IBA
GO:1903929	primary palate development	IEA
GO:1905515	non-motile cilium assembly	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0001750	photoreceptor outer segment	IEA
GO:0005623	cell	IEA
GO:0005634	nucleus	IEA
GO:0005813	centrosome	IDA
GO:0005829	cytosol	TAS
GO:0005930	axoneme	IBA
GO:0016020	membrane	IBA
GO:0034464	BBSome	IDA
GO:0034464	BBSome	IBA
GO:0036064	ciliary basal body	IBA
GO:0043005	neuron projection	IBA
GO:0060170	ciliary membrane	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1852241	Organelle biogenesis and maintenance	TAS
R-HSA-5617833	Cilium Assembly	TAS
R-HSA-5620920	Cargo trafficking to the periciliary membrane	TAS
R-HSA-5620922	BBSome-mediated cargo-targeting to cilium	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of BBS7 mRNA	28628672
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of BBS7 mRNA	28628672
C051246	1-methylanthracene	[1-methylanthracene co-treated with fluoranthene] results in decreased expression of BBS7 mRNA	28329830
C029790	2,2',3',4,4',5-hexachlorobiphenyl	2,2',3',4,4',5-hexachlorobiphenyl results in decreased expression of BBS7 mRNA	23829299
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of BBS7 mRNA	21346803
C511621	2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	[Tetrachlorodibenzodioxin co-treated with 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide] results in increased expression of BBS7 mRNA	29704546
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in increased expression of BBS7 mRNA	30723492
D000082	Acetaminophen	Acetaminophen results in increased expression of BBS7 mRNA	22230336
D020106	Acrylamide	Acrylamide results in decreased expression of BBS7 mRNA	30807115
D016604	Aflatoxin B1	Aflatoxin B1 affects the expression of BBS7 protein	20106945
D001280	Atrazine	Atrazine results in decreased expression of BBS7 mRNA	22982499
D001564	Benzo(a)pyrene	Benzo(a)pyrene promotes the reaction [AHR protein binds to BBS7 promoter]	19654925
C006780	bisphenol A	bisphenol A affects the expression of BBS7 mRNA	21786754
C006780	bisphenol A	bisphenol A results in decreased methylation of BBS7 intron	30906313
C006780	bisphenol A	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of BBS7 mRNA	28628672
C006780	bisphenol A	bisphenol A results in increased expression of BBS7 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased methylation of BBS7 gene	28505145
C000611646	bisphenol F	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of BBS7 mRNA	28628672
D002945	Cisplatin	Cisplatin results in increased expression of BBS7 mRNA	27392435
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of BBS7 mRNA	28628672
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of BBS7 mRNA	28628672
C016366	dibenzothiophene	dibenzothiophene results in decreased expression of BBS7 mRNA	23656968
C000944	dicrotophos	dicrotophos results in decreased expression of BBS7 mRNA	28302478
D004026	Dieldrin	Dieldrin results in decreased expression of BBS7 mRNA	28385952
D004041	Dietary Fats	Dietary Fats results in decreased expression of BBS7 mRNA	18042831
D004052	Diethylnitrosamine	[indole-3-carbinol co-treated with Diethylnitrosamine] results in increased expression of BBS7 mRNA	22129741
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in increased expression of BBS7 mRNA	23649840
C007738	fluoranthene	[1-methylanthracene co-treated with fluoranthene] results in decreased expression of BBS7 mRNA	28329830
D005485	Flutamide	Flutamide results in decreased expression of BBS7 mRNA	24793618
D005557	Formaldehyde	Formaldehyde results in increased expression of BBS7 mRNA	23649840
C016517	indole-3-carbinol	indole-3-carbinol affects the expression of BBS7 mRNA	21396975
C016517	indole-3-carbinol	[indole-3-carbinol co-treated with Diethylnitrosamine] results in increased expression of BBS7 mRNA	22129741
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of BBS7 mRNA	28628672
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of BBS7 mRNA	28628672
D008694	Methamphetamine	Methamphetamine affects the expression of BBS7 mRNA	29802913
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of BBS7 mRNA	23649840
C523799	MRK 003	BBS7 results in increased susceptibility to MRK 003	19903844
D000073878	Palm Oil	Palm Oil results in decreased expression of BBS7 mRNA	18042831
D011374	Progesterone	Progesterone results in increased expression of BBS7 mRNA	18070364
D012969	Sodium Fluoride	Sodium Fluoride results in increased expression of BBS7 protein	28918527
D000077210	Sunitinib	Sunitinib results in increased expression of BBS7 mRNA	31533062
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide] results in increased expression of BBS7 mRNA	29704546
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of BBS7 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin promotes the reaction [AHR protein binds to BBS7 promoter]	19654925
D014241	Trichloroethylene	Trichloroethylene results in increased methylation of BBS7 gene	27618143
C012589	trichostatin A	trichostatin A affects the expression of BBS7 mRNA	28542535
C012589	trichostatin A	trichostatin A results in increased expression of BBS7 mRNA	24935251
D014635	Valproic Acid	Valproic Acid affects the expression of BBS7 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased methylation of BBS7 gene	29154799
D014635	Valproic Acid	Valproic Acid results in increased expression of BBS7 mRNA	23179753; 24935251; 25192806; 28001369; 29154799;

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0007	Acetylation
KW-0025	Alternative splicing
KW-0083	Bardet-Biedl syndrome
KW-1003	Cell membrane
KW-0966	Cell projection
KW-1186	Ciliopathy
KW-0969	Cilium
KW-0970	Cilium biogenesis/degradation
KW-0963	Cytoplasm
KW-0206	Cytoskeleton
KW-0225	Disease mutation
KW-0472	Membrane
KW-0991	Mental retardation
KW-0550	Obesity
KW-0621	Polymorphism
KW-0653	Protein transport
KW-1185	Reference proteome
KW-0716	Sensory transduction
KW-0813	Transport
KW-0844	Vision

Interpro

InterPro ID	InterPro Term
IPR016575	Bardet-Biedl_syndrome_7_prot
IPR036322	WD40_repeat_dom_sf

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term

Gene: BBS7

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