CleftGeneDB-Search

Gene: CPLANE1

Basic information

Tag	Content
Uniprot ID	Q9H799; A8MUB7; B7ZLV7; Q4G174; Q6DK46; Q8N8L4; Q9H5T1; Q9H8T9;
Entrez ID	65250
Genbank protein ID	AAH28410.1; BAB14999.1; BAB14513.1; AAI44070.1; AAH74774.2; AAI50595.1; BAC04822.1; BAB15539.1;
Genbank nucleotide ID	NM_023073.3
Ensembl protein ID	ENSP00000389014; ENSP00000421690;
Ensembl nucleotide ID	ENSG00000197603
Gene name	Ciliogenesis and planar polarity effector 1
Gene symbol	CPLANE1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Involved in ciliogenesis (PubMed:25877302). Involved in the establishment of cell polarity required for directional cell migration. Proposed to act in association with the CPLANE (ciliogenesis and planar polarity effectors) complex. Involved in recruitment of peripheral IFT-A proteins to basal bodies (By similarity).
Sequence	MEIRLEILTS TGIKQKKPWP RVSWLGKEKE AVFLLDDKFI NEINLLSGKI KKKIPSLQPF 60 LKDVIVLTTS SNDAWLAGVL TTGELFLWNK DQDCLKTIPI TEKPKEMIKA TVASSLRLYL 120 YVSGNGKRIV LITPSGCIFL WEYLELKNIL SSKSLSLAGR WSQVIPEEAV LLPSTEDKEA 180 VVNAVFIKNE LFGDCCLCSF TFYSGECLKL TFLAIRWHEN VFTSVRSLPY HVHWAQQDCH 240 LCSLIPKCES VKSRGALISA FSRDGLTLAV TLNQKDPKAT QVLFINTLNF VTLCGSLKGC 300 SNKSPVVPAT LIRSYWVGDI SWTHDSLFLA CMLKRGSLVL LTCQGELLTL ITFGCSIEFG 360 PAEFIPLHPL ITYRPQQFTF QDSNNSVDSS ASDSDPMRQR FSIKAHSRLP YLVISDGYMV 420 TTLRFLDSLS PSVHMRSLLL DSTQRLEKIY QSVILSKPKG KGLNLRSLNS LRSSLLEHQG 480 NESSADFTVP KFLQAEETIN ENAADFQDFE AEETNEGRHF PDNLCPFWNK RDDVLCSSMK 540 EGRLEFASMF DTIHAKDDSE ETDRTITELH SIQKSLLAAW TIGISKTVTE KNLMLNYIVV 600 CITHFFYILQ FIKCPFPKLD LVLSKSSRHN AWILCIFQLF HQCLSIHYWD IRYKQDVGHL 660 IKLTSNTVKL LLTQQQKGQL FSEKLLACFY LLKMVADNLN GVYILQPEVI SASADGSKIT 720 AQDSLVVPIF QMFQDSGFQK NWSWNSFFKI HPQVVNPVQQ PGHRLLILWR ILYKKTLWYQ 780 AQLNRRVPEA DSQLTEKMTH EASTVKSLLC HLQANLQSTG DCLNQTLELK SINGEECFLL 840 GSYEKSVQLW KKALQEIEEK GGRRTYFLQI RYYLSLLYCH LYSYNLNDAQ GLCDQLAREI 900 LRWSQLPVKE NKDFSGAAKS HFECGMVGGV HPEAAVRVVQ SMARFMAAYF TNQQLCILPP 960 HHVNVLPPLH IKTEQSFRLI PLQHSKVASV VRDQNLSNVW TVEYALELLF IGGLVPEAVW 1020 LAYKLGDWKT SVSIGVAFQL FCKRDSNFMR SKKKSLNLPL RMTPAQIFQE KLQCVLGQPA 1080 SLEAKNEMGS KYKQFTDPIE EEDANLLFGS VQEVLKASVM ADADILSETF QLLIDSAKDF 1140 SKRLWGLVPF GLYLPAPPLY CPQPAILSEE DGDDLLLKAE KNNRQKVSGI LQRVLLLFRA 1200 AQCSFPVAQW YILQLRWARK VMQKIRMKGS LPSLSPFPQS LLNYCKGGIA FFRPGAAGDH 1260 KLDEVSIRAI GCFRELCALC WMLHVRDKLS YSCRQYQKAR ENVKGEKDLE VEFDSCMIEH 1320 CLSAVEWAYR MLPFSRFFNM EELIQDIILS LIGELPPIRK VAEIFVKAFP YPEDVRVPLR 1380 DKYHSLHQRL RHCVVKGPQT EEMMSVVMHS IQKVRVKALK RVQRNIGSFE VNIWEPIEEE 1440 KPDEAPGVDR YSLGTSLSRS TLTELGDSVV HSDADTFSEA LSVEEKSRIN IYQRNAPNHM 1500 ELTSIHKPTD KRKMCNQKEN PTKKEDHEKL SQNTLPVIGV WEFERDDDEY IKFLDLFLSY 1560 ILERDLPYSR DADIPFLTSF SGKLREHELN SLLFDVHTTL KRHQSKTKSQ NVFRAGSCFV 1620 VAPESYESEK SSSLNDEYGM HLENQKLSSS VLVNQGIKPF LQYPSNEVNK NEGMSGLFGL 1680 KQRSIYKIQD DTREKCLIQR SSNHIFWTPK SIKTRRCIFK AIQCNDINPQ EDLPLALNTF 1740 GSIGRLLEWM IRWSNRRLLC DSGITESSSE YSPVIRVKTS TAAILTSLWL LEQPYFATYK 1800 AKNAIIKMVE NRDTGCQIGP NIERESKSDA GGSVAVATPG GTEERNGQNK SCQNILNRMP 1860 TEAKNPDIKE INDDIISITH NTKKEFIDID ENLLEVEAFT EEEMDMHISD YEEDIEESVG 1920 GFRSPSLAIC MMTLPQQLEE EFTEEVQCQR EEPLETIMEE KSTEQKGMIE AFSHPGHTTP 1980 QSMQVDTSSE ISSAQISTYK EKSSSVPLLI SNGVNVASQP PAPTPQKTQR NEFTAQLPDC 2040 SESVRQMLQD EMFKLVQLQQ INFMSLMQIV GSSFANLPDT QQLVQQSQSV HLGESQESNL 2100 RGCGDVEDSN KNLKERFFIK PQSMGENARE PRKNSPHCHE GTIPSGQNST GNVQNVPHGS 2160 IPLCQLNGQP RKKGPIPSSQ NLPSTSFYPA PAGNTHLYLL STPSVVQKAP RLIPHAKTFS 2220 PGDGFPLLQF KSKQEFQPLF LHTGSIPQVP FRPLPQPREA WGLSDSFQPA LPQRAAQTTP 2280 ASHLNVSQYN TEARKKEVEQ KTWAETVITE IPNHVNLDQY VGQENLTPQQ DSSVFIKPEK 2340 LFDVKPGTLE ISPHHSFGLP LLYLPLKPPN MFPSTSRASI TVPSTPIQPI AEERKYPRLS 2400 LLHSHLSPEN RCKKTQLIPL ENLIAFKQSQ QKLTHNLFEQ GDAGHLQLLK VKIEPPEVRQ 2460 GKDSKKRQRR RAEKELQEKR CEKLRRKPNV TFRPENSIIN NDDSEIIKKP KEQQEHCGSH 2520 PLDDFDVPFE MLQDDNTSAG LHFMASVKKK AIGSQDASTN TDPEHEPLTA PQLLVPDVYL 2580 NLKLSSEMSE KPWSPSIPHT VTNLELPVRE EPSNDNVIKQ QSDHLAVPSS AELHYMAASV 2640 TNAVPPHNFK SQGLPKPEFR FKGQSTKSDS AEDYLLWKRL QGVSAACPAP SSAAHQLEHL 2700 SAKLQKIDEQ LLAIQNIAEN IEQDFPKPEM LDLHCDKIGP VDHIEFSSGP EFKKTLASKT 2760 ISISEEVRFL THMDEEDQSD KKETSEPEFS ITENYSGQKT CVFPTADSAV SLSSSSDQNT 2820 TSPGMNSSDE LCESVSVHPL QMTGLTDIAD IIDDLIIKDG VSSEELGLTE QAMGTSRIQH 2880 YSGRHSQRTD KERREIQAWM KRKRKERMAK YLNELAEKRG QEHDPFCPRS NPLYMTSREI 2940 RLRQKMKHEK DRLLLSEHYS RRISQAYGLM NELLSESVQL PTLPQKPLPN KPSPTQSSSC 3000 QHCPSPRGEN QHGHSFLINR PGKVKYMSKP SYIHKRKSFG QPQGSPWPHG TATFTIQKKA 3060 GGAKAAVRKA TQSPVTFQKG SNAPCHSLQH TKKHGSAGLA PQTKQVCVEY EREETVVSPW 3120 TIPSEIHKIL HESHNSLLQD LSPTEEEEPE HPFGVGGVDS VSESTGSILS KLDWNAIEDM 3180 VASVEDQGLS VHWALDL 3197

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.

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	CPLANE1		A0A452FMK9		Capra hircus	Prediction	More>>
1:1 ortholog	CPLANE1	65250	Q9H799		Homo sapiens	Prediction	More>>
1:1 ortholog	Cplane1	73692	Q8CE72	CLP	Mus musculus	Publication	More>>
1:1 ortholog	CPLANE1	461916	H2QQS4		Pan troglodytes	Prediction	More>>
1:1 ortholog	Cplane1		D3ZK35		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1293975447	p.Ile3Arg	missense variant	-	NC_000005.10:g.37247691A>C	TOPMed
rs1392344659	p.Leu8Phe	missense variant	-	NC_000005.10:g.37247675C>G	TOPMed,gnomAD
rs1229933956	p.Thr11Arg	missense variant	-	NC_000005.10:g.37247667G>C	TOPMed
rs1189651175	p.Gly12Asp	missense variant	-	NC_000005.10:g.37247664C>T	TOPMed,gnomAD
rs1450990239	p.Lys17Thr	missense variant	-	NC_000005.10:g.37247649T>G	TOPMed
rs1204887886	p.Lys17Asn	missense variant	-	NC_000005.10:g.37247648T>G	TOPMed
RCV000342484	p.Trp19Ter	nonsense	-	NC_000005.10:g.37247642C>T	ClinVar
rs886041966	p.Trp19Ter	stop gained	-	NC_000005.10:g.37247642C>T	-
rs376687322	p.Arg21Cys	missense variant	-	NC_000005.10:g.37247638G>A	ESP,ExAC,TOPMed,gnomAD
rs1215626789	p.Arg21His	missense variant	-	NC_000005.10:g.37247637C>T	TOPMed,gnomAD
rs776857821	p.Gly26Val	missense variant	-	NC_000005.10:g.37247622C>A	ExAC,gnomAD
rs1163835747	p.Gly26Arg	missense variant	-	NC_000005.10:g.37247623C>T	gnomAD
rs985759463	p.Lys29Glu	missense variant	-	NC_000005.10:g.37245842T>C	TOPMed
rs932952740	p.Glu30Ter	stop gained	-	NC_000005.10:g.37245839C>A	TOPMed
RCV000404490	p.Val32Ile	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37245833C>T	ClinVar
rs73750959	p.Val32Phe	missense variant	-	NC_000005.10:g.37245833C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs73750959	p.Val32Ile	missense variant	-	NC_000005.10:g.37245833C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1043094880	p.Lys38Thr	missense variant	-	NC_000005.10:g.37245814T>G	TOPMed,gnomAD
rs749171859	p.Lys38Glu	missense variant	-	NC_000005.10:g.37245815T>C	ExAC,gnomAD
rs1339874659	p.Ile40Met	missense variant	-	NC_000005.10:g.37245807T>C	gnomAD
rs1204171955	p.Ile40Leu	missense variant	-	NC_000005.10:g.37245809T>A	gnomAD
rs1204171955	p.Ile40Val	missense variant	-	NC_000005.10:g.37245809T>C	gnomAD
rs779643193	p.Ile43Phe	missense variant	-	NC_000005.10:g.37245800T>A	ExAC,gnomAD
rs779643193	p.Ile43Val	missense variant	-	NC_000005.10:g.37245800T>C	ExAC,gnomAD
rs755773138	p.Leu45Phe	missense variant	-	NC_000005.10:g.37245792C>A	ExAC,TOPMed,gnomAD
rs952769625	p.Ser47Thr	missense variant	-	NC_000005.10:g.37245788A>T	TOPMed,gnomAD
rs1397093792	p.Ile50Leu	missense variant	-	NC_000005.10:g.37245779T>A	TOPMed
NCI-TCGA novel	p.Lys53Asn	missense variant	-	NC_000005.10:g.37245768T>G	NCI-TCGA
rs1392679014	p.Pro55Ser	missense variant	-	NC_000005.10:g.37245764G>A	TOPMed,gnomAD
rs1350721964	p.Leu57Met	missense variant	-	NC_000005.10:g.37245758G>T	gnomAD
rs921380949	p.Gln58Lys	missense variant	-	NC_000005.10:g.37245755G>T	TOPMed,gnomAD
rs921380949	p.Gln58Ter	stop gained	-	NC_000005.10:g.37245755G>A	TOPMed,gnomAD
rs1307084274	p.Pro59Ala	missense variant	-	NC_000005.10:g.37245752G>C	TOPMed,gnomAD
rs1427434547	p.Phe60Leu	missense variant	-	NC_000005.10:g.37245749A>G	gnomAD
rs750040861	p.Leu61Ser	missense variant	-	NC_000005.10:g.37245745A>G	ExAC,gnomAD
rs965197100	p.Val64Ile	missense variant	-	NC_000005.10:g.37245737C>T	TOPMed
rs912446274	p.Ile65Thr	missense variant	-	NC_000005.10:g.37245733A>G	TOPMed,gnomAD
rs1466959461	p.Val66Phe	missense variant	-	NC_000005.10:g.37245731C>A	gnomAD
rs1002297986	p.Thr68Ala	missense variant	-	NC_000005.10:g.37245725T>C	TOPMed,gnomAD
rs1002297986	p.Thr68Ser	missense variant	-	NC_000005.10:g.37245725T>A	TOPMed,gnomAD
rs1202271991	p.Thr69Ala	missense variant	-	NC_000005.10:g.37245722T>C	TOPMed
rs767130412	p.Ser70Phe	missense variant	-	NC_000005.10:g.37245718G>A	ExAC,gnomAD
rs756811653	p.Ser71Asn	missense variant	-	NC_000005.10:g.37245715C>T	ExAC,TOPMed,gnomAD
rs1258112096	p.Ser71Cys	missense variant	-	NC_000005.10:g.37245716T>A	TOPMed
rs1482203832	p.Asn72Thr	missense variant	-	NC_000005.10:g.37245712T>G	gnomAD
NCI-TCGA novel	p.Asp73Tyr	missense variant	-	NC_000005.10:g.37245710C>A	NCI-TCGA
RCV000178339	p.Ala74Val	missense variant	-	NC_000005.10:g.37245595G>A	ClinVar
rs139496915	p.Ala74Val	missense variant	-	NC_000005.10:g.37245595G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1239469326	p.Ala74Ser	missense variant	-	NC_000005.10:g.37245596C>A	gnomAD
rs139496915	p.Ala74Gly	missense variant	-	NC_000005.10:g.37245595G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1441701659	p.Ala77Ser	missense variant	-	NC_000005.10:g.37245587C>A	TOPMed,gnomAD
rs1554117507	p.Gly78Val	missense variant	-	NC_000005.10:g.37245583C>A	-
RCV000646704	p.Gly78Val	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37245583C>A	ClinVar
rs1253829684	p.Val79Gly	missense variant	-	NC_000005.10:g.37245580A>C	gnomAD
rs1235427864	p.Thr81Asn	missense variant	-	NC_000005.10:g.37245574G>T	TOPMed
rs1050105014	p.Thr82Pro	missense variant	-	NC_000005.10:g.37245572T>G	TOPMed
rs1266897653	p.Thr82Ile	missense variant	-	NC_000005.10:g.37245571G>A	TOPMed,gnomAD
rs1554117456	p.Gly83Ter	stop gained	-	NC_000005.10:g.37245569C>A	-
RCV000622958	p.Gly83Ter	nonsense	Inborn genetic diseases	NC_000005.10:g.37245569C>A	ClinVar
rs1226086505	p.Glu84Ter	stop gained	-	NC_000005.10:g.37245566C>A	TOPMed,gnomAD
rs1486702562	p.Glu84Gly	missense variant	-	NC_000005.10:g.37245565T>C	TOPMed
rs1226086505	p.Glu84Lys	missense variant	-	NC_000005.10:g.37245566C>T	TOPMed,gnomAD
rs1184582202	p.Lys90Glu	missense variant	-	NC_000005.10:g.37245548T>C	TOPMed
rs973795274	p.Asp91Asn	missense variant	-	NC_000005.10:g.37245545C>T	-
rs1358002555	p.Asp93Gly	missense variant	-	NC_000005.10:g.37245538T>C	gnomAD
rs772399906	p.Pro99Ser	missense variant	-	NC_000005.10:g.37245521G>A	ExAC,gnomAD
rs1332623224	p.Glu102Lys	missense variant	-	NC_000005.10:g.37245512C>T	gnomAD
rs1433411087	p.Lys105Asn	missense variant	-	NC_000005.10:g.37245501C>G	TOPMed
rs1437839710	p.Lys109Arg	missense variant	-	NC_000005.10:g.37245490T>C	gnomAD
rs373849750	p.Thr111Ala	missense variant	-	NC_000005.10:g.37245485T>C	ESP,ExAC,gnomAD
rs1319932651	p.Val112Phe	missense variant	-	NC_000005.10:g.37245482C>A	gnomAD
rs1023404450	p.Ala113Thr	missense variant	-	NC_000005.10:g.37245479C>T	gnomAD
rs534807606	p.Ala113Val	missense variant	-	NC_000005.10:g.37244607G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs534807606	p.Ala113Glu	missense variant	-	NC_000005.10:g.37244607G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1351635401	p.Leu116Met	missense variant	-	NC_000005.10:g.37244599A>T	TOPMed,gnomAD
rs1324311439	p.Arg117Thr	missense variant	-	NC_000005.10:g.37244595C>G	gnomAD
RCV000347506	p.Tyr121His	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37244584A>G	ClinVar
rs886060587	p.Tyr121His	missense variant	-	NC_000005.10:g.37244584A>G	-
rs1404949478	p.Val122Ile	missense variant	-	NC_000005.10:g.37244581C>T	gnomAD
NCI-TCGA novel	p.Val122Ala	missense variant	-	NC_000005.10:g.37244580A>G	NCI-TCGA
rs957027661	p.Ser123Tyr	missense variant	-	NC_000005.10:g.37244577G>T	TOPMed
rs766935499	p.Asn125Ser	missense variant	-	NC_000005.10:g.37244571T>C	TOPMed,gnomAD
rs1450489314	p.Lys127Arg	missense variant	-	NC_000005.10:g.37244565T>C	TOPMed
COSM1067818	p.Arg128Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37244562C>A	NCI-TCGA Cosmic
rs1204623947	p.Arg128Gly	missense variant	-	NC_000005.10:g.37244563T>C	TOPMed
rs780883640	p.Leu131Phe	missense variant	-	NC_000005.10:g.37244554G>A	ExAC,gnomAD
rs1455402164	p.Ile132Val	missense variant	-	NC_000005.10:g.37244551T>C	gnomAD
rs1478974970	p.Pro134Thr	missense variant	-	NC_000005.10:g.37244545G>T	gnomAD
NCI-TCGA novel	p.Pro134Ser	missense variant	-	NC_000005.10:g.37244545G>A	NCI-TCGA
rs1345935478	p.Ile138Val	missense variant	-	NC_000005.10:g.37244533T>C	TOPMed,gnomAD
rs1246732410	p.Leu140Ile	missense variant	-	NC_000005.10:g.37244527G>T	TOPMed,gnomAD
RCV000500106	p.Glu142Lys	missense variant	-	NC_000005.10:g.37244521C>T	ClinVar
rs756856188	p.Glu142Lys	missense variant	-	NC_000005.10:g.37244521C>T	ExAC,TOPMed,gnomAD
rs1410543833	p.Tyr143Cys	missense variant	-	NC_000005.10:g.37244517T>C	TOPMed
NCI-TCGA novel	p.Lys147Asn	missense variant	-	NC_000005.10:g.37244504C>A	NCI-TCGA
rs549015748	p.Asn148Thr	missense variant	-	NC_000005.10:g.37244502T>G	1000Genomes,TOPMed,gnomAD
rs549015748	p.Asn148Ser	missense variant	-	NC_000005.10:g.37244502T>C	1000Genomes,TOPMed,gnomAD
rs1343395272	p.Ser151Phe	missense variant	-	NC_000005.10:g.37244493G>A	TOPMed,gnomAD
rs1213278664	p.Lys153Glu	missense variant	-	NC_000005.10:g.37244488T>C	gnomAD
rs751087543	p.Ala158Val	missense variant	-	NC_000005.10:g.37244472G>A	ExAC,TOPMed,gnomAD
rs754258488	p.Arg160Trp	missense variant	-	NC_000005.10:g.37244467G>A	ExAC,TOPMed,gnomAD
rs766961442	p.Arg160Gln	missense variant	-	NC_000005.10:g.37244466C>T	ExAC,TOPMed,gnomAD
rs761168338	p.Trp161Gly	missense variant	-	NC_000005.10:g.37244464A>C	ExAC,gnomAD
rs767914507	p.Ser162Phe	missense variant	-	NC_000005.10:g.37244460G>A	ExAC,gnomAD
rs750802255	p.Ser162Ala	missense variant	-	NC_000005.10:g.37244461A>C	ExAC,gnomAD
rs761870769	p.Val164Gly	missense variant	-	NC_000005.10:g.37244454A>C	ExAC,gnomAD
rs968241708	p.Ile165Thr	missense variant	-	NC_000005.10:g.37244451A>G	TOPMed
rs968241708	p.Ile165Arg	missense variant	-	NC_000005.10:g.37244451A>C	TOPMed
rs1190098989	p.Ala169Thr	missense variant	-	NC_000005.10:g.37244440C>T	gnomAD
rs1015190087	p.Val170Phe	missense variant	-	NC_000005.10:g.37244437C>A	TOPMed
rs1462893252	p.Val170Ala	missense variant	-	NC_000005.10:g.37244436A>G	TOPMed
RCV000201603	p.Leu171Ter	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37244436dup	ClinVar
rs1004617814	p.Leu171Ile	missense variant	-	NC_000005.10:g.37244434G>T	TOPMed
RCV000201554	p.Leu171Ter	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37244436del	ClinVar
NCI-TCGA novel	p.Leu172Phe	missense variant	-	NC_000005.10:g.37244429C>A	NCI-TCGA
rs1253513881	p.Pro173Arg	missense variant	-	NC_000005.10:g.37244427G>C	gnomAD
rs1475901814	p.Ser174Cys	missense variant	-	NC_000005.10:g.37244424G>C	TOPMed
rs886060586	p.Thr175Ala	missense variant	-	NC_000005.10:g.37244422T>C	TOPMed
RCV000408408	p.Thr175Ala	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37244422T>C	ClinVar
rs964246930	p.Glu176Lys	missense variant	-	NC_000005.10:g.37244419C>T	gnomAD
rs1202917441	p.Ala180Thr	missense variant	-	NC_000005.10:g.37244407C>T	gnomAD
rs1314437814	p.Ala180Asp	missense variant	-	NC_000005.10:g.37244406G>T	gnomAD
COSM3828038	p.Val182Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37244400A>G	NCI-TCGA Cosmic
rs1280024486	p.Phe186Leu	missense variant	-	NC_000005.10:g.37244389A>G	gnomAD
rs1334523885	p.Asn189Lys	missense variant	-	NC_000005.10:g.37244378A>C	TOPMed
rs1018501655	p.Asn189Ser	missense variant	-	NC_000005.10:g.37244379T>C	TOPMed,gnomAD
rs1263716375	p.Leu197Pro	missense variant	-	NC_000005.10:g.37243100A>G	TOPMed,gnomAD
RCV000338303	p.Tyr203Cys	missense variant	-	NC_000005.10:g.37243082T>C	ClinVar
rs144969169	p.Tyr203Cys	missense variant	-	NC_000005.10:g.37243082T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1270049075	p.Gly205Val	missense variant	-	NC_000005.10:g.37243076C>A	gnomAD
rs924258961	p.Gly205Arg	missense variant	-	NC_000005.10:g.37243077C>T	TOPMed
rs978431624	p.Glu206Asp	missense variant	-	NC_000005.10:g.37243072T>G	TOPMed
RCV000350861	p.Lys209Arg	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37243064T>C	ClinVar
rs770630520	p.Lys209Arg	missense variant	-	NC_000005.10:g.37243064T>C	ExAC,TOPMed,gnomAD
RCV000819192	p.Lys209Arg	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37243064T>C	ClinVar
rs1401666590	p.Leu210Ter	stop gained	-	NC_000005.10:g.37243061A>T	TOPMed
rs372873088	p.Leu210Val	missense variant	-	NC_000005.10:g.37243062A>C	TOPMed,gnomAD
rs1467507075	p.Phe212Cys	missense variant	-	NC_000005.10:g.37243055A>C	TOPMed
rs1305198780	p.Ile215Phe	missense variant	-	NC_000005.10:g.37243047T>A	gnomAD
rs1379533613	p.Arg216Gln	missense variant	-	NC_000005.10:g.37243043C>T	TOPMed,gnomAD
rs543556323	p.Arg216Trp	missense variant	-	NC_000005.10:g.37243044G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs752753204	p.Trp217Ter	stop gained	-	NC_000005.10:g.37243039C>T	gnomAD
rs1450311906	p.His218Tyr	missense variant	-	NC_000005.10:g.37243038G>A	gnomAD
rs974974781	p.His218Arg	missense variant	-	NC_000005.10:g.37243037T>C	TOPMed,gnomAD
rs777375643	p.Glu219Asp	missense variant	-	NC_000005.10:g.37243033C>A	ExAC,gnomAD
RCV000296197	p.Val221Ala	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37243028A>G	ClinVar
rs1362686289	p.Val221Ile	missense variant	-	NC_000005.10:g.37243029C>T	TOPMed,gnomAD
rs370118778	p.Val221Ala	missense variant	-	NC_000005.10:g.37243028A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1011229827	p.Phe222Ile	missense variant	-	NC_000005.10:g.37243026A>T	gnomAD
rs1011229827	p.Phe222Leu	missense variant	-	NC_000005.10:g.37243026A>G	gnomAD
rs1367255493	p.Ser227Ter	stop gained	-	NC_000005.10:g.37239867G>T	TOPMed,gnomAD
rs750818403	p.Pro229Thr	missense variant	-	NC_000005.10:g.37239862G>T	ExAC,gnomAD
rs913551616	p.Tyr230Phe	missense variant	-	NC_000005.10:g.37239858T>A	TOPMed,gnomAD
rs767930925	p.His231Arg	missense variant	-	NC_000005.10:g.37239855T>C	ExAC,gnomAD
rs762115051	p.His233Gln	missense variant	-	NC_000005.10:g.37239848A>T	ExAC,TOPMed,gnomAD
rs1258296079	p.His233Arg	missense variant	-	NC_000005.10:g.37239849T>C	TOPMed
RCV000578989	p.Trp234Ter	nonsense	-	NC_000005.10:g.37239845C>T	ClinVar
rs1554114025	p.Trp234Ter	stop gained	-	NC_000005.10:g.37239845C>T	-
rs367627463	p.Ala235Ser	missense variant	-	NC_000005.10:g.37239844C>A	TOPMed
rs367627463	p.Ala235Thr	missense variant	-	NC_000005.10:g.37239844C>T	TOPMed
rs957588958	p.Gln237Ter	stop gained	-	NC_000005.10:g.37239838G>A	TOPMed,gnomAD
rs778771073	p.His240Tyr	missense variant	-	NC_000005.10:g.37239829G>A	TOPMed,gnomAD
rs1389563176	p.Leu241Phe	missense variant	-	NC_000005.10:g.37239826G>A	TOPMed
rs1423193740	p.Cys242Tyr	missense variant	-	NC_000005.10:g.37239822C>T	gnomAD
rs1392560173	p.Ser243Arg	missense variant	-	NC_000005.10:g.37239818A>T	gnomAD
rs1454775313	p.Cys248Arg	missense variant	-	NC_000005.10:g.37239805A>G	TOPMed
rs757197770	p.Glu249Gln	missense variant	-	NC_000005.10:g.37239802C>G	TOPMed,gnomAD
rs1428450883	p.Glu249Ala	missense variant	-	NC_000005.10:g.37239801T>G	gnomAD
rs370977871	p.Ser253Leu	missense variant	-	NC_000005.10:g.37239789G>A	1000Genomes,ESP,TOPMed,gnomAD
rs1193035258	p.Gly255Ter	stop gained	-	NC_000005.10:g.37239784C>A	gnomAD
rs1275106600	p.Leu266Ile	missense variant	-	NC_000005.10:g.37239751G>T	TOPMed,gnomAD
rs1227513348	p.Thr271Ala	missense variant	-	NC_000005.10:g.37239736T>C	gnomAD
RCV000201759	p.Asn273His	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37239730T>G	ClinVar
rs863225167	p.Asn273His	missense variant	-	NC_000005.10:g.37239730T>G	-
rs1324649536	p.Asn273Thr	missense variant	-	NC_000005.10:g.37239729T>G	gnomAD
rs1302725073	p.Pro277His	missense variant	-	NC_000005.10:g.37239717G>T	gnomAD
RCV000785933	p.Lys278Arg	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37239714T>C	ClinVar
rs566588740	p.Lys278Arg	missense variant	-	NC_000005.10:g.37239714T>C	1000Genomes,TOPMed
rs1009393649	p.Val282Ile	missense variant	-	NC_000005.10:g.37238951C>T	TOPMed,gnomAD
rs1009393649	p.Val282Leu	missense variant	-	NC_000005.10:g.37238951C>A	TOPMed,gnomAD
rs369448121	p.Val291Ala	missense variant	-	NC_000005.10:g.37238923A>G	ESP,ExAC,TOPMed,gnomAD
rs1440857530	p.Ser296Arg	missense variant	-	NC_000005.10:g.37238907G>C	TOPMed
RCV000723144	p.Gly299Ter	nonsense	-	NC_000005.10:g.37238900C>A	ClinVar
COSM1067815	p.Lys303Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37238886C>A	NCI-TCGA Cosmic
RCV000690353	p.Lys303Ter	frameshift	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37238887_37238888del	ClinVar
rs1248663983	p.Pro305Ser	missense variant	-	NC_000005.10:g.37238882G>A	TOPMed
rs776434510	p.Val306Met	missense variant	-	NC_000005.10:g.37238879C>T	ExAC,TOPMed,gnomAD
RCV000556883	p.Val306Met	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37238879C>T	ClinVar
rs377351238	p.Thr310Ile	missense variant	-	NC_000005.10:g.37238866G>A	ESP,ExAC,TOPMed,gnomAD
rs763561354	p.Ile312Thr	missense variant	-	NC_000005.10:g.37238860A>G	ExAC,gnomAD
rs1461276591	p.Ile312Phe	missense variant	-	NC_000005.10:g.37238861T>A	TOPMed
rs777338237	p.Arg313Lys	missense variant	-	NC_000005.10:g.37238857C>T	ExAC,gnomAD
rs1200903066	p.Tyr315Cys	missense variant	-	NC_000005.10:g.37231044T>C	gnomAD
rs1367504777	p.Val317Leu	missense variant	-	NC_000005.10:g.37231039C>A	TOPMed,gnomAD
rs1367576769	p.Asp319His	missense variant	-	NC_000005.10:g.37231033C>G	TOPMed
rs886060584	p.Ile320Thr	missense variant	-	NC_000005.10:g.37231029A>G	TOPMed,gnomAD
RCV000280877	p.Ile320Thr	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37231029A>G	ClinVar
VAR_076776	p.Trp322Gly	Missense	-	-	UniProt
rs373704405	p.Thr323Met	missense variant	-	NC_000005.10:g.37231020G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000180684	p.Thr323Met	missense variant	-	NC_000005.10:g.37231020G>A	ClinVar
rs1229752578	p.Ser326Asn	missense variant	-	NC_000005.10:g.37231011C>T	TOPMed,gnomAD
rs1329411806	p.Phe328Leu	missense variant	-	NC_000005.10:g.37231006A>G	gnomAD
RCV000612655	p.Met332Val	missense variant	-	NC_000005.10:g.37230994T>C	ClinVar
rs369404481	p.Met332Val	missense variant	-	NC_000005.10:g.37230994T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1385320835	p.Met332Thr	missense variant	-	NC_000005.10:g.37230993A>G	gnomAD
rs1315296922	p.Arg335Cys	missense variant	-	NC_000005.10:g.37230985G>A	TOPMed,gnomAD
rs570985560	p.Arg335His	missense variant	-	NC_000005.10:g.37230984C>T	TOPMed,gnomAD
rs1004787837	p.Leu338Val	missense variant	-	NC_000005.10:g.37230976G>C	TOPMed
rs527836330	p.Val339Ile	missense variant	-	NC_000005.10:g.37230973C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1252357096	p.Leu341Phe	missense variant	-	NC_000005.10:g.37230965C>G	gnomAD
rs1458937434	p.Leu341Trp	missense variant	-	NC_000005.10:g.37230966A>C	TOPMed,gnomAD
rs1433221579	p.Thr342Asn	missense variant	-	NC_000005.10:g.37230963G>T	TOPMed
rs1158143763	p.Gly345Ala	missense variant	-	NC_000005.10:g.37230954C>G	gnomAD
rs1469773488	p.Glu346Ter	stop gained	-	NC_000005.10:g.37230952C>A	TOPMed
rs1468807312	p.Leu347Trp	missense variant	-	NC_000005.10:g.37230948A>C	gnomAD
rs1188032768	p.Thr352Ala	missense variant	-	NC_000005.10:g.37230934T>C	gnomAD
rs1443893630	p.Thr352Lys	missense variant	-	NC_000005.10:g.37230933G>T	TOPMed,gnomAD
rs1443893630	p.Thr352Ile	missense variant	-	NC_000005.10:g.37230933G>A	TOPMed,gnomAD
RCV000523196	p.Thr352Lys	missense variant	-	NC_000005.10:g.37230933G>T	ClinVar
rs1210054410	p.Cys355Tyr	missense variant	-	NC_000005.10:g.37230924C>T	gnomAD
rs150818442	p.Ser356Ala	missense variant	-	NC_000005.10:g.37230922A>C	1000Genomes,ExAC
rs548640009	p.Ile357Val	missense variant	-	NC_000005.10:g.37230919T>C	1000Genomes,TOPMed,gnomAD
rs1320099373	p.Glu358Gln	missense variant	-	NC_000005.10:g.37230916C>G	TOPMed
rs758553385	p.Pro361Ser	missense variant	-	NC_000005.10:g.37230907G>A	ExAC,gnomAD
COSM1067814	p.Glu363Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.37230901C>A	NCI-TCGA Cosmic
rs376489487	p.Pro366Ser	missense variant	-	NC_000005.10:g.37230892G>A	ESP,ExAC,TOPMed,gnomAD
rs1388570960	p.Pro366Leu	missense variant	-	NC_000005.10:g.37230891G>A	TOPMed
rs765252155	p.Leu367Phe	missense variant	-	NC_000005.10:g.37230889G>A	ExAC,gnomAD
rs1286291749	p.His368Arg	missense variant	-	NC_000005.10:g.37230885T>C	gnomAD
rs1247233752	p.Pro369Ser	missense variant	-	NC_000005.10:g.37230883G>A	gnomAD
rs1046843624	p.Thr372Met	missense variant	-	NC_000005.10:g.37230873G>A	TOPMed,gnomAD
rs1382677016	p.Thr372Pro	missense variant	-	NC_000005.10:g.37230874T>G	TOPMed,gnomAD
RCV000322008	p.Pro375Ser	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37227816G>A	ClinVar
rs774016809	p.Pro375Ser	missense variant	-	NC_000005.10:g.37227816G>A	ExAC,TOPMed,gnomAD
rs373606997	p.Thr379Met	missense variant	-	NC_000005.10:g.37227803G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1263126278	p.Asp382Tyr	missense variant	-	NC_000005.10:g.37227795C>A	TOPMed
rs1333047025	p.Val387Ile	missense variant	-	NC_000005.10:g.37227780C>T	gnomAD
rs1324374545	p.Ser389Leu	missense variant	-	NC_000005.10:g.37227773G>A	gnomAD
rs1404589147	p.Ser390Thr	missense variant	-	NC_000005.10:g.37227771A>T	gnomAD
rs757781635	p.Asp393Gly	missense variant	-	NC_000005.10:g.37227761T>C	ExAC,gnomAD
rs980810902	p.Ser394Asn	missense variant	-	NC_000005.10:g.37227758C>T	TOPMed,gnomAD
rs1418777164	p.del394TerIleLysTerUnk	stop gained	-	NC_000005.10:g.37227759_37227760insTCTACTTGATTCA	gnomAD
rs1265528395	p.Asp395Glu	missense variant	-	NC_000005.10:g.37227754G>C	TOPMed
rs1008133189	p.Met397Val	missense variant	-	NC_000005.10:g.37227750T>C	TOPMed,gnomAD
rs573982253	p.Met397Ile	missense variant	-	NC_000005.10:g.37227748C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1008133189	p.Met397Leu	missense variant	-	NC_000005.10:g.37227750T>G	TOPMed,gnomAD
rs1198168579	p.Arg398Lys	missense variant	-	NC_000005.10:g.37227746C>T	gnomAD
rs182286156	p.Gln399His	missense variant	-	NC_000005.10:g.37227742C>G	1000Genomes
rs1489730749	p.Gln399Ter	stop gained	-	NC_000005.10:g.37227744G>A	gnomAD
rs890574549	p.Gln399Arg	missense variant	-	NC_000005.10:g.37227743T>C	TOPMed
rs1359869560	p.Ile403Thr	missense variant	-	NC_000005.10:g.37227731A>G	TOPMed
rs189796608	p.Arg408Trp	missense variant	-	NC_000005.10:g.37227717G>A	NCI-TCGA
rs929327971	p.Arg408Gln	missense variant	-	NC_000005.10:g.37227716C>T	TOPMed,gnomAD
rs189796608	p.Arg408Trp	missense variant	-	NC_000005.10:g.37227717G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs929327971	p.Arg408Leu	missense variant	-	NC_000005.10:g.37227716C>A	TOPMed,gnomAD
rs868424448	p.Pro410Ser	missense variant	-	NC_000005.10:g.37227711G>A	gnomAD
rs1347149040	p.Tyr411His	missense variant	-	NC_000005.10:g.37227708A>G	gnomAD
rs1295132257	p.Leu412Arg	missense variant	-	NC_000005.10:g.37227704A>C	TOPMed
rs758642292	p.Val413Ile	missense variant	-	NC_000005.10:g.37227702C>T	ExAC,TOPMed,gnomAD
COSM3715201	p.Asp416His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37227693C>G	NCI-TCGA Cosmic
rs752878745	p.Thr421Ile	missense variant	-	NC_000005.10:g.37227677G>A	ExAC,TOPMed,gnomAD
RCV000438829	p.Arg424Ter	nonsense	-	NC_000005.10:g.37227669G>A	ClinVar
RCV000694430	p.Arg424Ter	nonsense	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37227669G>A	ClinVar
rs369204500	p.Arg424Gln	missense variant	-	NC_000005.10:g.37227668C>T	ESP,ExAC,TOPMed,gnomAD
rs755097302	p.Arg424Ter	stop gained	-	NC_000005.10:g.37227669G>A	ExAC,TOPMed,gnomAD
rs569749694	p.Leu426Pro	missense variant	-	NC_000005.10:g.37227662A>G	1000Genomes,ExAC,gnomAD
RCV000513673	p.Asp427Glu	missense variant	-	NC_000005.10:g.37227658A>T	ClinVar
rs1416115425	p.Asp427Glu	missense variant	-	NC_000005.10:g.37227658A>T	gnomAD
rs1425197384	p.Ser428Arg	missense variant	-	NC_000005.10:g.37227655G>C	gnomAD
rs539526918	p.Ser430Thr	missense variant	-	NC_000005.10:g.37227651A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs539526918	p.Ser430Pro	missense variant	-	NC_000005.10:g.37227651A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1184764389	p.Met435Leu	missense variant	-	NC_000005.10:g.37227636T>G	TOPMed,gnomAD
rs1184764389	p.Met435Val	missense variant	-	NC_000005.10:g.37227636T>C	TOPMed,gnomAD
rs1481127855	p.Arg436Ser	missense variant	-	NC_000005.10:g.37227631T>A	TOPMed,gnomAD
rs1444670357	p.Leu438Arg	missense variant	-	NC_000005.10:g.37227626A>C	gnomAD
rs774184345	p.Leu438Phe	missense variant	-	NC_000005.10:g.37227627G>A	ExAC,TOPMed,gnomAD
rs1203167510	p.Leu440Pro	missense variant	-	NC_000005.10:g.37227620A>G	TOPMed,gnomAD
rs1263799600	p.Leu440Phe	missense variant	-	NC_000005.10:g.37227621G>A	gnomAD
rs1347857852	p.Gln444Glu	missense variant	-	NC_000005.10:g.37227609G>C	TOPMed
rs1347857852	p.Gln444Ter	stop gained	-	NC_000005.10:g.37227609G>A	TOPMed
NCI-TCGA novel	p.Arg445Gly	missense variant	-	NC_000005.10:g.37227606T>C	NCI-TCGA
NCI-TCGA novel	p.Glu447Asp	missense variant	-	NC_000005.10:g.37227598C>A	NCI-TCGA
rs938499127	p.Ile449Val	missense variant	-	NC_000005.10:g.37227594T>C	TOPMed,gnomAD
rs1204605921	p.Tyr450Asp	missense variant	-	NC_000005.10:g.37227591A>C	gnomAD
rs768413158	p.Val453Met	missense variant	-	NC_000005.10:g.37227582C>T	ExAC,TOPMed,gnomAD
rs1032256723	p.Ile454Leu	missense variant	-	NC_000005.10:g.37227579T>A	TOPMed,gnomAD
rs1335463376	p.Leu455Ser	missense variant	-	NC_000005.10:g.37227575A>G	gnomAD
rs1452570073	p.Lys461Glu	missense variant	-	NC_000005.10:g.37227383T>C	TOPMed,gnomAD
rs1343122552	p.Gly462Glu	missense variant	-	NC_000005.10:g.37227379C>T	TOPMed,gnomAD
rs1157357610	p.Leu463Pro	missense variant	-	NC_000005.10:g.37227376A>G	gnomAD
rs868467543	p.Arg466Gln	missense variant	-	NC_000005.10:g.37227367C>T	TOPMed,gnomAD
rs201292596	p.Arg466Ter	stop gained	-	NC_000005.10:g.37227368G>A	ExAC,TOPMed,gnomAD
rs201292596	p.Arg466Gly	missense variant	-	NC_000005.10:g.37227368G>C	ExAC,TOPMed,gnomAD
rs139940282	p.Leu471Val	missense variant	-	NC_000005.10:g.37227353G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000646719	p.Leu471Val	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37227353G>C	ClinVar
rs368258488	p.Arg472Trp	missense variant	-	NC_000005.10:g.37227350T>A	ESP,ExAC,TOPMed,gnomAD
rs1187221964	p.Arg472Lys	missense variant	-	NC_000005.10:g.37227349C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ser473Thr	missense variant	-	NC_000005.10:g.37227347A>T	NCI-TCGA
rs780122881	p.Ser474Thr	missense variant	-	NC_000005.10:g.37227343C>G	ExAC,gnomAD
rs1240635623	p.Glu477Lys	missense variant	-	NC_000005.10:g.37227335C>T	gnomAD
rs756024139	p.His478Arg	missense variant	-	NC_000005.10:g.37227331T>C	ExAC,gnomAD
rs1359820021	p.Gln479Lys	missense variant	-	NC_000005.10:g.37227329G>T	gnomAD
rs1290792126	p.Glu482Val	missense variant	-	NC_000005.10:g.37227319T>A	TOPMed,gnomAD
rs750330611	p.Ser483Ile	missense variant	-	NC_000005.10:g.37227316C>A	ExAC,gnomAD
RCV000724006	p.Asp486Asn	missense variant	-	NC_000005.10:g.37227308C>T	ClinVar
rs374411782	p.Asp486Asn	missense variant	-	NC_000005.10:g.37227308C>T	1000Genomes,ESP,TOPMed,gnomAD
RCV000325656	p.Asp486Asn	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37227308C>T	ClinVar
RCV000420402	p.Val489Phe	missense variant	-	NC_000005.10:g.37227299C>A	ClinVar
rs372187548	p.Val489Ile	missense variant	-	NC_000005.10:g.37227299C>T	ExAC,TOPMed,gnomAD
rs372187548	p.Val489Phe	missense variant	-	NC_000005.10:g.37227299C>A	ExAC,TOPMed,gnomAD
rs1401068752	p.Pro490Ala	missense variant	-	NC_000005.10:g.37227296G>C	TOPMed
rs979311838	p.Pro490Leu	missense variant	-	NC_000005.10:g.37227295G>A	gnomAD
rs761746624	p.Lys491Arg	missense variant	-	NC_000005.10:g.37227292T>C	ExAC,TOPMed,gnomAD
rs761746624	p.Lys491Ile	missense variant	-	NC_000005.10:g.37227292T>A	ExAC,TOPMed,gnomAD
rs938547995	p.Glu496Gly	missense variant	-	NC_000005.10:g.37227277T>C	TOPMed,gnomAD
rs751399336	p.Thr498Ile	missense variant	-	NC_000005.10:g.37227271G>A	ExAC,gnomAD
rs928430723	p.Ile499Arg	missense variant	-	NC_000005.10:g.37227268A>C	TOPMed
rs1028627119	p.Ile499Val	missense variant	-	NC_000005.10:g.37227269T>C	gnomAD
rs1275634659	p.Asn502Ser	missense variant	-	NC_000005.10:g.37227259T>C	TOPMed
rs1064796585	p.Ala503Thr	missense variant	-	NC_000005.10:g.37227257C>T	-
rs1347489421	p.Ala503Gly	missense variant	-	NC_000005.10:g.37227256G>C	TOPMed
RCV000481379	p.Ala503Thr	missense variant	-	NC_000005.10:g.37227257C>T	ClinVar
rs773819961	p.Asn515Lys	missense variant	-	NC_000005.10:g.37227050G>T	ExAC,TOPMed,gnomAD
rs772553650	p.Glu516Lys	missense variant	-	NC_000005.10:g.37227049C>T	ExAC,TOPMed,gnomAD
rs886060583	p.Arg518Ser	missense variant	-	NC_000005.10:g.37227041T>A	gnomAD
RCV000270620	p.Arg518Ser	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37227041T>A	ClinVar
rs1461942415	p.His519Arg	missense variant	-	NC_000005.10:g.37227039T>C	TOPMed,gnomAD
rs1371369898	p.Cys525Arg	missense variant	-	NC_000005.10:g.37227022A>G	TOPMed,gnomAD
rs1178730858	p.Phe527Val	missense variant	-	NC_000005.10:g.37227016A>C	gnomAD
rs1428927651	p.Asp533Val	missense variant	-	NC_000005.10:g.37226997T>A	gnomAD
rs558101040	p.Cys536Phe	missense variant	-	NC_000005.10:g.37226988C>A	1000Genomes
rs1403977547	p.Ser538Cys	missense variant	-	NC_000005.10:g.37226983T>A	TOPMed
rs954907723	p.Ser538Asn	missense variant	-	NC_000005.10:g.37226982C>T	TOPMed
rs1449072117	p.Lys540Asn	missense variant	-	NC_000005.10:g.37226975C>A	TOPMed
rs1307104090	p.Glu541Lys	missense variant	-	NC_000005.10:g.37226974C>T	TOPMed
rs1250993026	p.Gly542Arg	missense variant	-	NC_000005.10:g.37226971C>T	gnomAD
rs1451330944	p.Arg543Ile	missense variant	-	NC_000005.10:g.37226967C>A	gnomAD
NCI-TCGA novel	p.Arg543Thr	missense variant	-	NC_000005.10:g.37226967C>G	NCI-TCGA
rs563502625	p.Met549Val	missense variant	-	NC_000005.10:g.37226950T>C	ExAC,TOPMed,gnomAD
rs77739540	p.Thr552Met	missense variant	-	NC_000005.10:g.37226940G>A	1000Genomes,ExAC,TOPMed
RCV000520085	p.Thr552Met	missense variant	-	NC_000005.10:g.37226940G>A	ClinVar
rs1229854824	p.His554Tyr	missense variant	-	NC_000005.10:g.37226935G>A	TOPMed,gnomAD
rs1337841433	p.Ala555Ser	missense variant	-	NC_000005.10:g.37226932C>A	gnomAD
NCI-TCGA novel	p.Asp558Asn	missense variant	-	NC_000005.10:g.37226923C>T	NCI-TCGA
rs1418530039	p.Asp563His	missense variant	-	NC_000005.10:g.37226908C>G	gnomAD
rs1470384523	p.Arg564Gly	missense variant	-	NC_000005.10:g.37226905T>C	gnomAD
NCI-TCGA novel	p.Arg564Ile	missense variant	-	NC_000005.10:g.37226904C>A	NCI-TCGA
rs756254995	p.Ile566Val	missense variant	-	NC_000005.10:g.37226899T>C	ExAC,TOPMed,gnomAD
rs1364117468	p.Thr567Ile	missense variant	-	NC_000005.10:g.37226895G>A	gnomAD
NCI-TCGA novel	p.Leu569Met	missense variant	-	NC_000005.10:g.37226890G>T	NCI-TCGA
rs1188797300	p.Lys574Asn	missense variant	-	NC_000005.10:g.37226873T>A	TOPMed
rs1370751672	p.Leu576Ile	missense variant	-	NC_000005.10:g.37226869G>T	TOPMed
rs191239995	p.Ala579Val	missense variant	-	NC_000005.10:g.37226859G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000646713	p.Ala579Val	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37226859G>A	ClinVar
RCV000625261	p.Ala579Val	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37226859G>A	ClinVar
rs1460428825	p.Trp580Ter	stop gained	-	NC_000005.10:g.37226855C>T	gnomAD
rs1424803343	p.Ile582Val	missense variant	-	NC_000005.10:g.37226851T>C	TOPMed
rs1260722151	p.Ile582Thr	missense variant	-	NC_000005.10:g.37226850A>G	gnomAD
rs995624563	p.Ile582Met	missense variant	-	NC_000005.10:g.37226849T>C	gnomAD
rs1350997993	p.Gly583Arg	missense variant	-	NC_000005.10:g.37226848C>G	gnomAD
rs1206198595	p.Thr589Ala	missense variant	-	NC_000005.10:g.37226830T>C	gnomAD
rs751417720	p.Glu590Gly	missense variant	-	NC_000005.10:g.37226826T>C	ExAC,gnomAD
rs1334510328	p.Asn592Lys	missense variant	-	NC_000005.10:g.37226819A>T	gnomAD
rs1272767433	p.Leu593Val	missense variant	-	NC_000005.10:g.37226818A>C	gnomAD
rs530569572	p.Leu595Ter	stop gained	-	NC_000005.10:g.37226811A>C	TOPMed,gnomAD
RCV000201692	p.Leu595Ter	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37226811A>C	ClinVar
RCV000523063	p.Leu595Ter	nonsense	-	NC_000005.10:g.37226811A>C	ClinVar
rs1382067645	p.Ile598Val	missense variant	-	NC_000005.10:g.37226803T>C	gnomAD
rs1402632313	p.Cys601Ser	missense variant	-	NC_000005.10:g.37226793C>G	gnomAD
rs1386005132	p.Ile602Phe	missense variant	-	NC_000005.10:g.37226791T>A	TOPMed,gnomAD
rs896455969	p.Ile602Met	missense variant	-	NC_000005.10:g.37226789G>C	gnomAD
rs200550378	p.His604Leu	missense variant	-	NC_000005.10:g.37226784T>A	TOPMed,gnomAD
rs570302899	p.Phe605Ile	missense variant	-	NC_000005.10:g.37226782A>T	1000Genomes
rs1164067387	p.Phe606Val	missense variant	-	NC_000005.10:g.37226779A>C	gnomAD
COSM4613663	p.Tyr607LeuPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.37226775_37226776insA	NCI-TCGA Cosmic
rs777686211;rs797044640	p.Tyr607ThrPheSerTerUnk	frameshift	-	NC_000005.10:g.37226776A>-	NCI-TCGA,NCI-TCGA Cosmic
RCV000174405	p.Tyr607Ter	frameshift	-	NC_000005.10:g.37226783dup	ClinVar
rs1194762831	p.Ile608Thr	missense variant	-	NC_000005.10:g.37226772A>G	TOPMed,gnomAD
rs752434954	p.Ile608Val	missense variant	-	NC_000005.10:g.37226773T>C	ExAC,gnomAD
rs1194762831	p.Ile608Ser	missense variant	-	NC_000005.10:g.37226772A>C	TOPMed,gnomAD
rs752434954	p.Ile608Phe	missense variant	-	NC_000005.10:g.37226773T>A	ExAC,gnomAD
rs1338159128	p.Ile608Met	missense variant	-	NC_000005.10:g.37226771A>C	TOPMed
rs1447204022	p.Leu609Phe	missense variant	-	NC_000005.10:g.37226770G>A	gnomAD
rs1200574734	p.Gln610Ter	stop gained	-	NC_000005.10:g.37226767G>A	TOPMed
rs551661336	p.Ile612Thr	missense variant	-	NC_000005.10:g.37226760A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs533310477	p.Lys613Asn	missense variant	-	NC_000005.10:g.37226756T>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000764606	p.Lys613Asn	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37226756T>G	ClinVar
RCV000380958	p.Lys613Asn	missense variant	-	NC_000005.10:g.37226756T>G	ClinVar
rs1353659476	p.Cys614Tyr	missense variant	-	NC_000005.10:g.37226754C>T	gnomAD
rs1351894088	p.Pro615Ser	missense variant	-	NC_000005.10:g.37226752G>A	gnomAD
rs1326644956	p.Phe616Leu	missense variant	-	NC_000005.10:g.37226749A>G	gnomAD
rs1294435340	p.Pro617Arg	missense variant	-	NC_000005.10:g.37226745G>C	gnomAD
rs892914879	p.Lys618Thr	missense variant	-	NC_000005.10:g.37226742T>G	TOPMed
rs762248689	p.Leu621Ile	missense variant	-	NC_000005.10:g.37226734G>T	ExAC,gnomAD
RCV000554109	p.Ser626Ter	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37226718del	ClinVar
rs1317816571	p.Ser627Thr	missense variant	-	NC_000005.10:g.37226716A>T	gnomAD
RCV000145357	p.Arg628Lys	missense variant	-	NC_000005.10:g.37226712C>T	ClinVar
rs74975451	p.Arg628Lys	missense variant	-	NC_000005.10:g.37226712C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1383468137	p.Asn630Ser	missense variant	-	NC_000005.10:g.37226706T>C	gnomAD
rs1303581119	p.Ala631Val	missense variant	-	NC_000005.10:g.37226703G>A	gnomAD
rs539789389	p.Trp632Cys	missense variant	-	NC_000005.10:g.37226699C>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp632Arg	missense variant	-	NC_000005.10:g.37226701A>G	NCI-TCGA
rs910843354	p.Ile633Met	missense variant	-	NC_000005.10:g.37226696T>C	TOPMed
rs1462177997	p.Ile633Val	missense variant	-	NC_000005.10:g.37226698T>C	gnomAD
rs1401668840	p.His641Pro	missense variant	-	NC_000005.10:g.37226673T>G	TOPMed
rs983530028	p.His647Arg	missense variant	-	NC_000005.10:g.37226655T>C	gnomAD
rs775827684	p.His647Tyr	missense variant	-	NC_000005.10:g.37226656G>A	ExAC,TOPMed,gnomAD
rs983530028	p.His647Pro	missense variant	-	NC_000005.10:g.37226655T>G	gnomAD
COSM1567695	p.Asp650His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37226647C>G	NCI-TCGA Cosmic
rs1490748085	p.Arg652Ile	missense variant	-	NC_000005.10:g.37226640C>A	TOPMed,gnomAD
rs1342297170	p.Tyr653Cys	missense variant	-	NC_000005.10:g.37226637T>C	TOPMed
rs1271454737	p.Lys654Gln	missense variant	-	NC_000005.10:g.37226635T>G	gnomAD
rs923514393	p.Gln655Pro	missense variant	-	NC_000005.10:g.37226631T>G	TOPMed,gnomAD
rs1216833526	p.Asp656Val	missense variant	-	NC_000005.10:g.37226628T>A	gnomAD
rs972236064	p.Asp656Tyr	missense variant	-	NC_000005.10:g.37226629C>A	TOPMed,gnomAD
rs972236064	p.Asp656Asn	missense variant	-	NC_000005.10:g.37226629C>T	TOPMed,gnomAD
rs529419886	p.Val657Met	missense variant	-	NC_000005.10:g.37226626C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs745967875	p.Gly658Glu	missense variant	-	NC_000005.10:g.37226622C>T	ExAC,gnomAD
rs1269693917	p.Gly658Arg	missense variant	-	NC_000005.10:g.37226623C>G	gnomAD
rs1192029285	p.His659Asn	missense variant	-	NC_000005.10:g.37226620G>T	TOPMed
rs1016323553	p.Ile661Val	missense variant	-	NC_000005.10:g.37226614T>C	TOPMed
rs1347676803	p.Lys662Thr	missense variant	-	NC_000005.10:g.37226610T>G	gnomAD
rs1404179003	p.Asn666Asp	missense variant	-	NC_000005.10:g.37226599T>C	gnomAD
rs1201293004	p.Asn666Ser	missense variant	-	NC_000005.10:g.37226598T>C	TOPMed
COSM4913843	p.Thr667Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37226596T>A	NCI-TCGA Cosmic
rs1375962001	p.Thr667Ala	missense variant	-	NC_000005.10:g.37226596T>C	TOPMed
rs1330748126	p.Lys669Thr	missense variant	-	NC_000005.10:g.37226589T>G	gnomAD
rs1410489854	p.Leu670Val	missense variant	-	NC_000005.10:g.37226587G>C	gnomAD
rs951749046	p.Leu672Pro	missense variant	-	NC_000005.10:g.37226580A>G	TOPMed,gnomAD
rs951749046	p.Leu672Arg	missense variant	-	NC_000005.10:g.37226580A>C	TOPMed,gnomAD
rs1172913663	p.Thr673Ser	missense variant	-	NC_000005.10:g.37226578T>A	TOPMed
rs1361136933	p.Gln676Ter	stop gained	-	NC_000005.10:g.37226569G>A	TOPMed
rs1027355854	p.Gly678Arg	missense variant	-	NC_000005.10:g.37226563C>G	TOPMed
rs958743377	p.Gly678Asp	missense variant	-	NC_000005.10:g.37226562C>T	TOPMed
rs1165694869	p.Gln679Arg	missense variant	-	NC_000005.10:g.37226559T>C	TOPMed,gnomAD
rs781366484	p.Gln679His	missense variant	-	NC_000005.10:g.37226558C>A	ExAC,TOPMed,gnomAD
rs1429624123	p.Phe681Leu	missense variant	-	NC_000005.10:g.37226552G>T	gnomAD
COSM4856918	p.Glu683Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37226548C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu683Ala	missense variant	-	NC_000005.10:g.37226547T>G	NCI-TCGA
rs1034725789	p.Phe689Leu	missense variant	-	NC_000005.10:g.37226530A>G	TOPMed
rs561921574	p.Tyr690His	missense variant	-	NC_000005.10:g.37226527A>G	1000Genomes
rs181812684	p.Lys693Arg	missense variant	-	NC_000005.10:g.37226517T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs181812684	p.Lys693Thr	missense variant	-	NC_000005.10:g.37226517T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1057519066	p.Met694Val	missense variant	-	NC_000005.10:g.37226515T>C	gnomAD
rs758264035	p.Val695Ile	missense variant	-	NC_000005.10:g.37226512C>T	ExAC,TOPMed,gnomAD
rs1260442830	p.Asn700His	missense variant	-	NC_000005.10:g.37226497T>G	TOPMed
rs1489030827	p.Gly701Val	missense variant	-	NC_000005.10:g.37226493C>A	TOPMed
rs1272351781	p.Val702Leu	missense variant	-	NC_000005.10:g.37226491C>A	TOPMed,gnomAD
rs907149172	p.Tyr703Cys	missense variant	-	NC_000005.10:g.37226487T>C	TOPMed,gnomAD
rs1223152661	p.Ile704Val	missense variant	-	NC_000005.10:g.37226485T>C	TOPMed,gnomAD
rs1365168023	p.Gln706His	missense variant	-	NC_000005.10:g.37226477T>G	gnomAD
rs1281104449	p.Pro707Ser	missense variant	-	NC_000005.10:g.37226476G>A	TOPMed,gnomAD
rs1380828307	p.Ile710Val	missense variant	-	NC_000005.10:g.37226467T>C	TOPMed
RCV000729979	p.Ser711Leu	missense variant	-	NC_000005.10:g.37226463G>A	ClinVar
rs116237993	p.Ser711Leu	missense variant	-	NC_000005.10:g.37226463G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000417596	p.Ser713Leu	missense variant	-	NC_000005.10:g.37226457G>A	ClinVar
rs765005739	p.Ser713Leu	missense variant	-	NC_000005.10:g.37226457G>A	ExAC,gnomAD
rs1362957375	p.Gly716Arg	missense variant	-	NC_000005.10:g.37226449C>T	TOPMed
rs1470706207	p.Ala721Val	missense variant	-	NC_000005.10:g.37226433G>A	TOPMed,gnomAD
rs1175193491	p.Leu725Ser	missense variant	-	NC_000005.10:g.37226421A>G	gnomAD
rs1467926733	p.Pro728Ala	missense variant	-	NC_000005.10:g.37226413G>C	TOPMed,gnomAD
RCV000499755	p.Pro728Ala	missense variant	-	NC_000005.10:g.37226413G>C	ClinVar
RCV000646707	p.Ile729Val	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37226410T>C	ClinVar
rs1010091096	p.Ile729Val	missense variant	-	NC_000005.10:g.37226410T>C	TOPMed,gnomAD
rs558035506	p.Phe730Leu	missense variant	-	NC_000005.10:g.37226407A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1054212301	p.Met732Leu	missense variant	-	NC_000005.10:g.37226401T>A	TOPMed,gnomAD
rs1232879896	p.Gln734Leu	missense variant	-	NC_000005.10:g.37226394T>A	gnomAD
rs753359539	p.Gln734Glu	missense variant	-	NC_000005.10:g.37226395G>C	ExAC,TOPMed,gnomAD
rs1322678335	p.Asp735His	missense variant	-	NC_000005.10:g.37226392C>G	TOPMed
rs765826864	p.Ser736Asn	missense variant	-	NC_000005.10:g.37226388C>T	ExAC,gnomAD
COSM3828037	p.Gln739Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37226380G>C	NCI-TCGA Cosmic
rs896731706	p.Lys740Asn	missense variant	-	NC_000005.10:g.37226375T>A	TOPMed
rs1424521215	p.Trp742Ser	missense variant	-	NC_000005.10:g.37226370C>G	TOPMed,gnomAD
rs1468250803	p.Ser743Cys	missense variant	-	NC_000005.10:g.37226367G>C	TOPMed
rs1199522555	p.Trp744Leu	missense variant	-	NC_000005.10:g.37226364C>A	TOPMed
rs942403065	p.Phe748Val	missense variant	-	NC_000005.10:g.37226353A>C	TOPMed
rs889538605	p.His751Arg	missense variant	-	NC_000005.10:g.37226343T>C	TOPMed
NCI-TCGA novel	p.Pro752His	missense variant	-	NC_000005.10:g.37226340G>T	NCI-TCGA
rs1203230774	p.Gln753Glu	missense variant	-	NC_000005.10:g.37226338G>C	TOPMed,gnomAD
rs1310709857	p.Val754Leu	missense variant	-	NC_000005.10:g.37226335C>G	gnomAD
rs1286064292	p.Val755Ile	missense variant	-	NC_000005.10:g.37226332C>T	gnomAD
rs546125732	p.Asn756Lys	missense variant	-	NC_000005.10:g.37226327A>T	1000Genomes,TOPMed,gnomAD
RCV000201623	p.Gln759Ter	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37226320G>A	ClinVar
rs863225158	p.Gln759Ter	stop gained	-	NC_000005.10:g.37226320G>A	TOPMed
rs863225158	p.Gln759Glu	missense variant	-	NC_000005.10:g.37226320G>C	TOPMed
rs762334514	p.Gln760Lys	missense variant	-	NC_000005.10:g.37226317G>T	ExAC,TOPMed,gnomAD
rs762334514	p.Gln760Ter	stop gained	-	NC_000005.10:g.37226317G>A	ExAC,TOPMed,gnomAD
rs762334514	p.Gln760Glu	missense variant	-	NC_000005.10:g.37226317G>C	ExAC,TOPMed,gnomAD
rs1306899067	p.His763Asp	missense variant	-	NC_000005.10:g.37226308G>C	TOPMed,gnomAD
rs1267786198	p.Ile767Val	missense variant	-	NC_000005.10:g.37224733T>C	TOPMed
NCI-TCGA novel	p.Leu768Ile	missense variant	-	NC_000005.10:g.37224730G>T	NCI-TCGA
rs1050253934	p.Trp769Arg	missense variant	-	NC_000005.10:g.37224727A>T	TOPMed
rs1216772002	p.Ile771Met	missense variant	-	NC_000005.10:g.37224719T>C	gnomAD
rs775652771	p.Leu772Arg	missense variant	-	NC_000005.10:g.37224717A>C	ExAC,TOPMed,gnomAD
rs775652771	p.Leu772Pro	missense variant	-	NC_000005.10:g.37224717A>G	ExAC,TOPMed,gnomAD
RCV000435777	p.Tyr773Cys	missense variant	-	NC_000005.10:g.37224714T>C	ClinVar
rs1057521766	p.Tyr773Cys	missense variant	-	NC_000005.10:g.37224714T>C	TOPMed,gnomAD
rs1057521766	p.Tyr773Ser	missense variant	-	NC_000005.10:g.37224714T>G	TOPMed,gnomAD
rs770072253	p.Lys774Asn	missense variant	-	NC_000005.10:g.37224710T>A	ExAC,gnomAD
rs1313704320	p.Lys775Asn	missense variant	-	NC_000005.10:g.37224707T>A	gnomAD
rs752464801	p.Thr776LeuPheSerTerUnk	frameshift	-	NC_000005.10:g.37224706T>-	NCI-TCGA,NCI-TCGA Cosmic
rs1226186288	p.Leu777Ser	missense variant	-	NC_000005.10:g.37224702A>G	gnomAD
rs1363462144	p.Trp778Arg	missense variant	-	NC_000005.10:g.37224700A>G	gnomAD
COSM4853948	p.Gln780Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37224694G>C	NCI-TCGA Cosmic
rs1289028361	p.Gln780Arg	missense variant	-	NC_000005.10:g.37224693T>C	gnomAD
RCV000658300	p.Gln780Arg	missense variant	-	NC_000005.10:g.37224693T>C	ClinVar
RCV000201655	p.Arg785Ter	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37224679G>A	ClinVar
RCV000362856	p.Arg785Ter	nonsense	-	NC_000005.10:g.37224679G>A	ClinVar
rs535811932	p.Arg785Gln	missense variant	-	NC_000005.10:g.37224678C>T	NCI-TCGA,NCI-TCGA Cosmic
rs863225163	p.Arg785Ter	stop gained	-	NC_000005.10:g.37224679G>A	NCI-TCGA Cosmic
rs863225163	p.Arg785Ter	stop gained	-	NC_000005.10:g.37224679G>A	TOPMed,gnomAD
rs535811932	p.Arg785Gln	missense variant	-	NC_000005.10:g.37224678C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1296784985	p.Val787Ile	missense variant	-	NC_000005.10:g.37224673C>T	TOPMed,gnomAD
rs1427088812	p.Pro788Leu	missense variant	-	NC_000005.10:g.37224669G>A	gnomAD
rs1164163422	p.Ser792Asn	missense variant	-	NC_000005.10:g.37224657C>T	TOPMed,gnomAD
rs1386473177	p.Ser792Cys	missense variant	-	NC_000005.10:g.37224658T>A	gnomAD
rs1164163422	p.Ser792Asn	missense variant	-	NC_000005.10:g.37224657C>T	NCI-TCGA Cosmic
rs776886962	p.Gln793Ter	stop gained	-	NC_000005.10:g.37224655G>A	ExAC,TOPMed,gnomAD
rs1475335968	p.Gln793Arg	missense variant	-	NC_000005.10:g.37224654T>C	TOPMed
RCV000201525	p.Gln793Ter	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37224655G>A	ClinVar
rs1421753296	p.Leu794Ser	missense variant	-	NC_000005.10:g.37224651A>G	gnomAD
rs1187278191	p.Thr795Ala	missense variant	-	NC_000005.10:g.37224649T>C	gnomAD
COSM449612	p.Glu796Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37224646C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys797Asn	missense variant	-	NC_000005.10:g.37224641C>A	NCI-TCGA
rs1485682690	p.Met798Lys	missense variant	-	NC_000005.10:g.37224639A>T	TOPMed,gnomAD
rs1260724286	p.His800Asn	missense variant	-	NC_000005.10:g.37224634G>T	gnomAD
rs771174918	p.Ala802Val	missense variant	-	NC_000005.10:g.37224627G>A	ExAC,TOPMed,gnomAD
rs1490492363	p.Val805Ile	missense variant	-	NC_000005.10:g.37224619C>T	gnomAD
rs1290864107	p.Leu808Val	missense variant	-	NC_000005.10:g.37224610G>C	TOPMed,gnomAD
RCV000527826	p.Leu808Ter	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37224609_37224610del	ClinVar
rs1291473289	p.Cys810Trp	missense variant	-	NC_000005.10:g.37224602A>C	TOPMed
rs886060581	p.Cys810Arg	missense variant	-	NC_000005.10:g.37224604A>G	TOPMed,gnomAD
rs886060581	p.Cys810Gly	missense variant	-	NC_000005.10:g.37224604A>C	TOPMed,gnomAD
RCV000334302	p.Cys810Gly	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37224604A>C	ClinVar
rs1213599040	p.His811Tyr	missense variant	-	NC_000005.10:g.37224601G>A	gnomAD
rs1243954217	p.Ala814Asp	missense variant	-	NC_000005.10:g.37224591G>T	TOPMed
rs192335673	p.Leu816Ile	missense variant	-	NC_000005.10:g.37224586G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs192335673	p.Leu816Val	missense variant	-	NC_000005.10:g.37224586G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1481482875	p.Asp821Asn	missense variant	-	NC_000005.10:g.37224571C>T	TOPMed
rs1011292016	p.Cys822Arg	missense variant	-	NC_000005.10:g.37224568A>G	gnomAD
rs796385626	p.Asn824Ser	missense variant	-	NC_000005.10:g.37224561T>C	TOPMed
rs1456857277	p.Glu828Ter	stop gained	-	NC_000005.10:g.37224550C>A	gnomAD
rs1356314101	p.Ser831Phe	missense variant	-	NC_000005.10:g.37224540G>A	gnomAD
rs1171272217	p.Ile832Val	missense variant	-	NC_000005.10:g.37224538T>C	gnomAD
rs980898617	p.Asn833Ser	missense variant	-	NC_000005.10:g.37224534T>C	TOPMed,gnomAD
rs1410964430	p.Gly834Arg	missense variant	-	NC_000005.10:g.37224532C>T	TOPMed
rs1264537897	p.Cys837Tyr	missense variant	-	NC_000005.10:g.37224324C>T	gnomAD
rs753449442	p.Ser842Ter	stop gained	-	NC_000005.10:g.37224309G>C	ExAC,gnomAD
rs1426431422	p.Val847Phe	missense variant	-	NC_000005.10:g.37224295C>A	TOPMed
rs199749415	p.Gln848His	missense variant	-	NC_000005.10:g.37224290C>G	ExAC,TOPMed,gnomAD
rs1385563171	p.Trp850Arg	missense variant	-	NC_000005.10:g.37224286A>G	gnomAD
rs755666811	p.Lys852Glu	missense variant	-	NC_000005.10:g.37224280T>C	ExAC,TOPMed,gnomAD
rs886060580	p.Ala853Val	missense variant	-	NC_000005.10:g.37224276G>A	TOPMed,gnomAD
rs886060580	p.Ala853Gly	missense variant	-	NC_000005.10:g.37224276G>C	TOPMed,gnomAD
RCV000700941	p.Ala853Ter	frameshift	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37224283dup	ClinVar
rs886060580	p.Ala853Asp	missense variant	-	NC_000005.10:g.37224276G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ala853SerPheSerTerUnkUnk	frameshift	-	NC_000005.10:g.37224277_37224278insT	NCI-TCGA
RCV000279218	p.Ala853Asp	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37224276G>T	ClinVar
rs1285358729	p.Gln855Ter	stop gained	-	NC_000005.10:g.37224271G>A	TOPMed,gnomAD
rs1465109201	p.Glu856Lys	missense variant	-	NC_000005.10:g.37224268C>T	gnomAD
NCI-TCGA novel	p.Glu856Gly	missense variant	-	NC_000005.10:g.37224267T>C	NCI-TCGA
NCI-TCGA novel	p.Glu856Ter	stop gained	-	NC_000005.10:g.37224268C>A	NCI-TCGA
NCI-TCGA novel	p.Ile857Thr	missense variant	-	NC_000005.10:g.37224264A>G	NCI-TCGA
rs533506472	p.Glu858Lys	missense variant	-	NC_000005.10:g.37224262C>T	NCI-TCGA,NCI-TCGA Cosmic
rs533506472	p.Glu858Lys	missense variant	-	NC_000005.10:g.37224262C>T	ExAC,TOPMed,gnomAD
rs533506472	p.Glu858Ter	stop gained	-	NC_000005.10:g.37224262C>A	ExAC,TOPMed,gnomAD
rs1446725726	p.Arg863Lys	missense variant	-	NC_000005.10:g.37221482C>T	gnomAD
rs577616180	p.Thr865Ser	missense variant	-	NC_000005.10:g.37221477T>A	1000Genomes,gnomAD
rs868497791	p.Thr865Arg	missense variant	-	NC_000005.10:g.37221476G>C	TOPMed,gnomAD
rs868497791	p.Thr865Met	missense variant	-	NC_000005.10:g.37221476G>A	TOPMed,gnomAD
rs1453632335	p.Phe867Val	missense variant	-	NC_000005.10:g.37221471A>C	TOPMed,gnomAD
rs771266513	p.Leu868Phe	missense variant	-	NC_000005.10:g.37221468G>A	ExAC,TOPMed,gnomAD
rs1170595339	p.Gln869Ter	stop gained	-	NC_000005.10:g.37221465G>A	gnomAD
rs1455094740	p.Ile870Met	missense variant	-	NC_000005.10:g.37221460T>C	gnomAD
RCV000201667	p.Arg871Cys	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37221459G>A	ClinVar
rs1157919882	p.Arg871His	missense variant	-	NC_000005.10:g.37221458C>T	gnomAD
rs760906097	p.Arg871Ser	missense variant	-	NC_000005.10:g.37221459G>T	ExAC,TOPMed,gnomAD
rs1157919882	p.Arg871Leu	missense variant	-	NC_000005.10:g.37221458C>A	gnomAD
rs760906097	p.Arg871Cys	missense variant	-	NC_000005.10:g.37221459G>A	ExAC,TOPMed,gnomAD
rs794727154	p.Ser875Phe	missense variant	-	NC_000005.10:g.37221446G>A	TOPMed,gnomAD
RCV000611123	p.Ser875Phe	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37221446G>A	ClinVar
rs1437781015	p.Leu876Val	missense variant	-	NC_000005.10:g.37221444G>C	gnomAD
rs1244409222	p.Leu877Phe	missense variant	-	NC_000005.10:g.37221439T>G	TOPMed,gnomAD
rs1244409222	p.Leu877Phe	missense variant	-	NC_000005.10:g.37221439T>A	TOPMed,gnomAD
rs1183719989	p.Tyr878Asn	missense variant	-	NC_000005.10:g.37221438A>T	TOPMed,gnomAD
rs1183719989	p.Tyr878His	missense variant	-	NC_000005.10:g.37221438A>G	TOPMed,gnomAD
rs1441469685	p.Leu881Pro	missense variant	-	NC_000005.10:g.37221428A>G	gnomAD
rs1291012945	p.Leu881Phe	missense variant	-	NC_000005.10:g.37221429G>A	TOPMed
rs1012462823	p.Tyr882Cys	missense variant	-	NC_000005.10:g.37221425T>C	TOPMed,gnomAD
rs1176267069	p.Ser883Gly	missense variant	-	NC_000005.10:g.37221423T>C	TOPMed,gnomAD
rs1487026046	p.Asp888Gly	missense variant	-	NC_000005.10:g.37221407T>C	TOPMed,gnomAD
rs1487026046	p.Asp888Val	missense variant	-	NC_000005.10:g.37221407T>A	TOPMed,gnomAD
rs1287231108	p.Asp888Glu	missense variant	-	NC_000005.10:g.37221406A>T	TOPMed,gnomAD
rs1024667283	p.Gly891Val	missense variant	-	NC_000005.10:g.37221398C>A	TOPMed
rs959606573	p.Cys893Ter	stop gained	-	NC_000005.10:g.37221391A>T	TOPMed
RCV000201748	p.Trp903Ter	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37221361C>T	ClinVar
rs863225164	p.Trp903Ter	stop gained	-	NC_000005.10:g.37221361C>T	TOPMed
rs772059088	p.Gln905Glu	missense variant	-	NC_000005.10:g.37221357G>C	ExAC,gnomAD
rs1416725338	p.Val908Ile	missense variant	-	NC_000005.10:g.37221348C>T	gnomAD
rs184178061	p.Lys912Arg	missense variant	-	NC_000005.10:g.37221335T>C	1000Genomes,gnomAD
rs1554100282	p.HisPhe921GlnIle	missense variant	-	NC_000005.10:g.37213715_37213716inv	-
rs939816838	p.His921Gln	missense variant	-	NC_000005.10:g.37213716A>T	TOPMed,gnomAD
RCV000498366	p.His921GlnIle	missense variant	-	NC_000005.10:g.37213715_37213716inv	ClinVar
rs908372887	p.Phe922Ile	missense variant	-	NC_000005.10:g.37213715A>T	TOPMed,gnomAD
rs908372887	p.Phe922Leu	missense variant	-	NC_000005.10:g.37213715A>G	TOPMed,gnomAD
rs1294508181	p.Cys924Ser	missense variant	-	NC_000005.10:g.37213709A>T	gnomAD
rs567136523	p.Cys924Phe	missense variant	-	NC_000005.10:g.37213708C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1355665464	p.Val927Met	missense variant	-	NC_000005.10:g.37213700C>T	gnomAD
COSM449611	p.Gly928Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37213696C>G	NCI-TCGA Cosmic
rs1282527770	p.Gly928Asp	missense variant	-	NC_000005.10:g.37213696C>T	gnomAD
rs1341411250	p.Gly929Ser	missense variant	-	NC_000005.10:g.37213694C>T	gnomAD
rs1277317146	p.Gly929Asp	missense variant	-	NC_000005.10:g.37213693C>T	gnomAD
rs779736527	p.Glu933Asp	missense variant	-	NC_000005.10:g.37213680C>A	ExAC,gnomAD
rs1303627759	p.Ala934Gly	missense variant	-	NC_000005.10:g.37213678G>C	gnomAD
rs1404726579	p.Arg937Thr	missense variant	-	NC_000005.10:g.37213669C>G	gnomAD
rs1387915213	p.Val938Leu	missense variant	-	NC_000005.10:g.37213667C>G	TOPMed,gnomAD
rs1387915213	p.Val938Ile	missense variant	-	NC_000005.10:g.37213667C>T	TOPMed,gnomAD
rs1048318459	p.Val939Ile	missense variant	-	NC_000005.10:g.37213664C>T	TOPMed,gnomAD
rs1471773265	p.Gln940Arg	missense variant	-	NC_000005.10:g.37213660T>C	TOPMed
rs1158643659	p.Gln940His	missense variant	-	NC_000005.10:g.37213659C>G	TOPMed
rs1369179543	p.Ser941Cys	missense variant	-	NC_000005.10:g.37213657G>C	TOPMed
NCI-TCGA novel	p.Ser941Tyr	missense variant	-	NC_000005.10:g.37213657G>T	NCI-TCGA
rs918958290	p.Met942Val	missense variant	-	NC_000005.10:g.37213655T>C	TOPMed,gnomAD
rs1370968866	p.Met942Ile	missense variant	-	NC_000005.10:g.37213653C>T	gnomAD
NCI-TCGA novel	p.Met942Leu	missense variant	-	NC_000005.10:g.37213655T>A	NCI-TCGA
NCI-TCGA novel	p.Met942Ile	missense variant	-	NC_000005.10:g.37213653C>A	NCI-TCGA
RCV000201577	p.Arg944His	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37213648C>T	ClinVar
rs863225165	p.Arg944His	missense variant	-	NC_000005.10:g.37213648C>T	gnomAD
rs573980625	p.Phe945Val	missense variant	-	NC_000005.10:g.37213646A>C	gnomAD
rs1451574917	p.Met946Val	missense variant	-	NC_000005.10:g.37213643T>C	TOPMed,gnomAD
rs1363586663	p.Tyr949Asp	missense variant	-	NC_000005.10:g.37213634A>C	TOPMed
rs1287781089	p.Tyr949Cys	missense variant	-	NC_000005.10:g.37213633T>C	TOPMed,gnomAD
RCV000175099	p.Phe950Val	missense variant	-	NC_000005.10:g.37213631A>C	ClinVar
rs794727177	p.Phe950Val	missense variant	-	NC_000005.10:g.37213631A>C	-
rs1197686499	p.Thr951Pro	missense variant	-	NC_000005.10:g.37213628T>G	gnomAD
rs554483416	p.Asn952Ser	missense variant	-	NC_000005.10:g.37213624T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1352090701	p.Gln954Ter	stop gained	-	NC_000005.10:g.37213619G>A	TOPMed
COSM1437374	p.Pro960LeuPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.37213600G>-	NCI-TCGA Cosmic
rs758978371	p.Pro960Leu	missense variant	-	NC_000005.10:g.37213600G>A	ExAC,gnomAD
rs1275265369	p.His961Tyr	missense variant	-	NC_000005.10:g.37213598G>A	gnomAD
rs926554823	p.His962Arg	missense variant	-	NC_000005.10:g.37213594T>C	gnomAD
rs1172167327	p.Val965Gly	missense variant	-	NC_000005.10:g.37213585A>C	gnomAD
rs1221769879	p.Val965Leu	missense variant	-	NC_000005.10:g.37213586C>G	TOPMed
rs1329332026	p.Pro967Ser	missense variant	-	NC_000005.10:g.37213580G>A	gnomAD
rs980413221	p.Pro968Ser	missense variant	-	NC_000005.10:g.37213577G>A	TOPMed,gnomAD
rs1246298475	p.Lys972Gln	missense variant	-	NC_000005.10:g.37213565T>G	TOPMed
RCV000201687	p.Gln975Ter	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37206423G>A	ClinVar
rs863225166	p.Gln975Ter	stop gained	-	NC_000005.10:g.37206423G>A	TOPMed,gnomAD
rs863225166	p.Gln975Glu	missense variant	-	NC_000005.10:g.37206423G>C	TOPMed,gnomAD
rs1359437084	p.Arg978Ter	stop gained	-	NC_000005.10:g.37206414G>A	gnomAD
rs992985282	p.Arg978Gln	missense variant	-	NC_000005.10:g.37206413C>T	gnomAD
rs766715085	p.Leu979Arg	missense variant	-	NC_000005.10:g.37206410A>C	ExAC,gnomAD
rs956289118	p.Ile980Leu	missense variant	-	NC_000005.10:g.37206408T>G	TOPMed,gnomAD
RCV000723180	p.Ile980Ter	frameshift	-	NC_000005.10:g.37206410dup	ClinVar
rs1160747089	p.Ile980Thr	missense variant	-	NC_000005.10:g.37206407A>G	gnomAD
rs956289118	p.Ile980Val	missense variant	-	NC_000005.10:g.37206408T>C	TOPMed,gnomAD
rs1314490904	p.His984Arg	missense variant	-	NC_000005.10:g.37206395T>C	TOPMed,gnomAD
rs1329807288	p.Ser985Cys	missense variant	-	NC_000005.10:g.37206392G>C	TOPMed
rs1379745252	p.Ser985Pro	missense variant	-	NC_000005.10:g.37206393A>G	gnomAD
rs1342753709	p.Lys986Gln	missense variant	-	NC_000005.10:g.37206390T>G	gnomAD
rs1176915573	p.Val987Gly	missense variant	-	NC_000005.10:g.37206386A>C	TOPMed,gnomAD
rs1462822702	p.Ser989Arg	missense variant	-	NC_000005.10:g.37206381T>G	gnomAD
rs1462822702	p.Ser989Gly	missense variant	-	NC_000005.10:g.37206381T>C	gnomAD
rs1238203196	p.Val991Ile	missense variant	-	NC_000005.10:g.37206375C>T	gnomAD
rs1209703558	p.Gln994Glu	missense variant	-	NC_000005.10:g.37206366G>C	gnomAD
RCV000201737	p.Trp1000Leu	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37206347C>A	ClinVar
rs1240740708	p.Trp1000Gly	missense variant	-	NC_000005.10:g.37206348A>C	gnomAD
rs773362418	p.Trp1000Leu	missense variant	-	NC_000005.10:g.37206347C>A	ExAC,TOPMed,gnomAD
rs772005320	p.Thr1001Ala	missense variant	-	NC_000005.10:g.37206345T>C	ExAC,TOPMed,gnomAD
rs863225162	p.Glu1003Ter	stop gained	-	NC_000005.10:g.37206339C>A	-
RCV000201644	p.Glu1003Ter	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37206339C>A	ClinVar
rs1301839758	p.Leu1006Phe	missense variant	-	NC_000005.10:g.37206330G>A	gnomAD
rs1300486446	p.Leu1009Pro	missense variant	-	NC_000005.10:g.37206320A>G	TOPMed,gnomAD
rs1420827349	p.Phe1010Tyr	missense variant	-	NC_000005.10:g.37206317A>T	gnomAD
rs1360522942	p.Gly1013Cys	missense variant	-	NC_000005.10:g.37206309C>A	gnomAD
rs1360522942	p.Gly1013Ser	missense variant	-	NC_000005.10:g.37206309C>T	gnomAD
rs969126655	p.Leu1014Val	missense variant	-	NC_000005.10:g.37206306G>C	-
rs1197597342	p.Leu1014Pro	missense variant	-	NC_000005.10:g.37206305A>G	TOPMed
NCI-TCGA novel	p.Leu1014TrpPheSerTerUnkUnk	frameshift	-	NC_000005.10:g.37206306G>-	NCI-TCGA
RCV000555836	p.Leu1014Val	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37206306G>C	ClinVar
rs76021509	p.Val1019Gly	missense variant	-	NC_000005.10:g.37206290A>C	TOPMed
rs76021509	p.Val1019Ala	missense variant	-	NC_000005.10:g.37206290A>G	TOPMed
rs1473872367	p.Leu1021Trp	missense variant	-	NC_000005.10:g.37206284A>C	TOPMed
rs1181461470	p.Ala1022Val	missense variant	-	NC_000005.10:g.37206281G>A	gnomAD
rs962053628	p.Lys1024Glu	missense variant	-	NC_000005.10:g.37206276T>C	TOPMed
rs1471953664	p.Lys1024Arg	missense variant	-	NC_000005.10:g.37206275T>C	gnomAD
rs1243607309	p.Leu1025Phe	missense variant	-	NC_000005.10:g.37206273G>A	gnomAD
rs1411699843	p.Leu1025Pro	missense variant	-	NC_000005.10:g.37206272A>G	TOPMed
rs1015914518	p.Gly1026Ala	missense variant	-	NC_000005.10:g.37206269C>G	TOPMed
rs1217138915	p.Trp1028Ter	stop gained	-	NC_000005.10:g.37206262C>T	gnomAD
rs370057798	p.Thr1030Met	missense variant	-	NC_000005.10:g.37206257G>A	ESP,ExAC,TOPMed,gnomAD
rs965483152	p.Ile1034Val	missense variant	-	NC_000005.10:g.37206246T>C	TOPMed,gnomAD
rs1404945116	p.Ile1034Thr	missense variant	-	NC_000005.10:g.37206245A>G	TOPMed
rs1019442092	p.Gly1035Ala	missense variant	-	NC_000005.10:g.37206242C>G	gnomAD
rs1364362627	p.Ala1037Gly	missense variant	-	NC_000005.10:g.37206236G>C	gnomAD
COSM4924241	p.Gln1039Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37206230T>A	NCI-TCGA Cosmic
rs1161096932	p.Gln1039Ter	stop gained	-	NC_000005.10:g.37206231G>A	gnomAD
rs528530069	p.Lys1043Gln	missense variant	-	NC_000005.10:g.37206219T>G	1000Genomes
RCV000201725	p.Arg1044Ter	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37206215_37206216insT	ClinVar
rs376987361	p.Arg1044Cys	missense variant	-	NC_000005.10:g.37206216G>A	ESP,ExAC,TOPMed,gnomAD
rs779754977	p.Arg1044His	missense variant	-	NC_000005.10:g.37206215C>T	ExAC,TOPMed,gnomAD
rs1280487370	p.Asp1045Gly	missense variant	-	NC_000005.10:g.37206212T>C	gnomAD
rs1400923516	p.Asn1047Ser	missense variant	-	NC_000005.10:g.37206206T>C	gnomAD
rs769461781	p.Phe1048Leu	missense variant	-	NC_000005.10:g.37206204A>G	ExAC,gnomAD
rs887015086	p.Met1049Leu	missense variant	-	NC_000005.10:g.37206201T>G	TOPMed,gnomAD
rs200896462	p.Met1049Ile	missense variant	-	NC_000005.10:g.37206199C>T	gnomAD
rs887015086	p.Met1049Val	missense variant	-	NC_000005.10:g.37206201T>C	TOPMed,gnomAD
rs1178037372	p.Ser1051Thr	missense variant	-	NC_000005.10:g.37205453A>T	gnomAD
rs754271101	p.Lys1052Arg	missense variant	-	NC_000005.10:g.37205449T>C	ExAC,TOPMed,gnomAD
rs1410870241	p.Lys1054Met	missense variant	-	NC_000005.10:g.37205443T>A	gnomAD
rs1189416710	p.Ser1055Ile	missense variant	-	NC_000005.10:g.37205440C>A	TOPMed,gnomAD
rs1266505643	p.Ser1055Gly	missense variant	-	NC_000005.10:g.37205441T>C	gnomAD
rs1197590494	p.Leu1060Phe	missense variant	-	NC_000005.10:g.37205426G>A	gnomAD
rs1201581872	p.Arg1061His	missense variant	-	NC_000005.10:g.37205422C>T	TOPMed
rs199563006	p.Arg1061Cys	missense variant	-	NC_000005.10:g.37205423G>A	ExAC,TOPMed,gnomAD
rs1406242772	p.Met1062Leu	missense variant	-	NC_000005.10:g.37205420T>G	gnomAD
rs1242248719	p.Ala1065Glu	missense variant	-	NC_000005.10:g.37205410G>T	TOPMed
rs369082275	p.Gln1066Arg	missense variant	-	NC_000005.10:g.37205407T>C	gnomAD
rs1465075046	p.Gln1066His	missense variant	-	NC_000005.10:g.37205406C>G	TOPMed
rs1239997325	p.Ile1067Met	missense variant	-	NC_000005.10:g.37205403A>C	TOPMed
rs1190026032	p.Ile1067Leu	missense variant	-	NC_000005.10:g.37205405T>G	TOPMed
rs1301115182	p.Gly1077Asp	missense variant	-	NC_000005.10:g.37205374C>T	gnomAD
rs756432435	p.Gln1078His	missense variant	-	NC_000005.10:g.37205370T>G	ExAC,gnomAD
rs1172631763	p.Ala1080Gly	missense variant	-	NC_000005.10:g.37205365G>C	TOPMed
rs1446297280	p.Ser1081Pro	missense variant	-	NC_000005.10:g.37205363A>G	gnomAD
rs943993886	p.Leu1082Ser	missense variant	-	NC_000005.10:g.37205359A>G	TOPMed,gnomAD
COSM1067808	p.Ala1084Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37205354C>T	NCI-TCGA Cosmic
rs1389757083	p.Met1088Ile	missense variant	-	NC_000005.10:g.37205340C>T	TOPMed
rs1376881560	p.Ser1090Leu	missense variant	-	NC_000005.10:g.37205335G>A	gnomAD
rs1173823587	p.Tyr1092Ser	missense variant	-	NC_000005.10:g.37205329T>G	gnomAD
rs767757162	p.Phe1095Tyr	missense variant	-	NC_000005.10:g.37205320A>T	ExAC,gnomAD
rs1036608976	p.Thr1096Ile	missense variant	-	NC_000005.10:g.37205317G>A	TOPMed
rs1380357933	p.Asp1097Asn	missense variant	-	NC_000005.10:g.37205315C>T	gnomAD
rs780671780	p.Pro1098His	missense variant	-	NC_000005.10:g.37201805G>T	ExAC,TOPMed,gnomAD
RCV000406412	p.Ile1099Val	missense variant	-	NC_000005.10:g.37201803T>C	ClinVar
rs756480354	p.Ile1099Thr	missense variant	-	NC_000005.10:g.37201802A>G	ExAC,gnomAD
rs768197468	p.Ile1099Val	missense variant	-	NC_000005.10:g.37201803T>C	gnomAD
rs1378437370	p.Val1111Ile	missense variant	-	NC_000005.10:g.37201767C>T	TOPMed
rs538177758	p.Gln1112Lys	missense variant	-	NC_000005.10:g.37201764G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs538177758	p.Gln1112Glu	missense variant	-	NC_000005.10:g.37201764G>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000368547	p.Val1114Glu	missense variant	-	NC_000005.10:g.37201757A>T	ClinVar
rs746467519	p.Val1114Glu	missense variant	-	NC_000005.10:g.37201757A>T	-
rs1348576437	p.Ala1117Thr	missense variant	-	NC_000005.10:g.37201749C>T	gnomAD
rs764120813	p.Ala1117Val	missense variant	-	NC_000005.10:g.37201748G>A	ExAC,gnomAD
COSM259832	p.Val1119Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37201742A>G	NCI-TCGA Cosmic
rs1401548587	p.Asp1122Gly	missense variant	-	NC_000005.10:g.37201733T>C	gnomAD
rs775457117	p.Asp1122Asn	missense variant	-	NC_000005.10:g.37201734C>T	ExAC,TOPMed,gnomAD
rs527486565	p.Asp1124Glu	missense variant	-	NC_000005.10:g.37201726A>C	1000Genomes
rs1417822500	p.Ile1125Met	missense variant	-	NC_000005.10:g.37201723A>C	gnomAD
rs765146058	p.Ile1125Thr	missense variant	-	NC_000005.10:g.37201724A>G	ExAC,gnomAD
rs1340915184	p.Ile1125Val	missense variant	-	NC_000005.10:g.37201725T>C	gnomAD
COSM3855093	p.Leu1126Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37201722G>A	NCI-TCGA Cosmic
rs759320408	p.Leu1126Val	missense variant	-	NC_000005.10:g.37201722G>C	ExAC,TOPMed,gnomAD
RCV000521353	p.Ser1127Leu	missense variant	-	NC_000005.10:g.37201718G>A	ClinVar
RCV000501748	p.Ser1127Leu	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37201718G>A	ClinVar
rs776423792	p.Ser1127Ala	missense variant	-	NC_000005.10:g.37201719A>C	ExAC,TOPMed,gnomAD
rs375009168	p.Ser1127Leu	missense variant	-	NC_000005.10:g.37201718G>A	ESP,TOPMed,gnomAD
rs375009168	p.Ser1127Ter	stop gained	-	NC_000005.10:g.37201718G>T	ESP,TOPMed,gnomAD
rs375009168	p.Ser1127Leu	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37201718G>A	UniProt,dbSNP
VAR_072553	p.Ser1127Leu	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37201718G>A	UniProt
RCV000288858	p.Ser1127Ter	nonsense	-	NC_000005.10:g.37201718G>T	ClinVar
rs1376836151	p.Thr1129Ala	missense variant	-	NC_000005.10:g.37201713T>C	TOPMed
rs984628582	p.Phe1130Ser	missense variant	-	NC_000005.10:g.37201709A>G	TOPMed,gnomAD
rs772877798	p.Leu1132Pro	missense variant	-	NC_000005.10:g.37201703A>G	ExAC,gnomAD
rs1039665987	p.Leu1132Phe	missense variant	-	NC_000005.10:g.37201704G>A	TOPMed
COSM737876	p.Leu1133Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37201701G>T	NCI-TCGA Cosmic
rs756639207	p.Asp1135Glu	missense variant	-	NC_000005.10:g.37201693G>C	ExAC,gnomAD
rs747635859	p.Asp1135Tyr	missense variant	-	NC_000005.10:g.37201695C>A	ExAC,TOPMed,gnomAD
rs780763762	p.Asp1135Val	missense variant	-	NC_000005.10:g.37201694T>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp1135Asn	missense variant	-	NC_000005.10:g.37201695C>T	NCI-TCGA
RCV000689626	p.Ser1136Ter	frameshift	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37201691del	ClinVar
NCI-TCGA novel	p.Ser1136Cys	missense variant	-	NC_000005.10:g.37201691G>C	NCI-TCGA
rs1210576061	p.Ala1137Val	missense variant	-	NC_000005.10:g.37201688G>A	gnomAD
rs1008545236	p.Ala1137Thr	missense variant	-	NC_000005.10:g.37201689C>T	TOPMed
rs746221254	p.Lys1138Glu	missense variant	-	NC_000005.10:g.37201686T>C	ExAC,gnomAD
rs150425494	p.Phe1140Leu	missense variant	-	NC_000005.10:g.37201680A>G	ESP,ExAC,gnomAD
rs1220722758	p.Ser1141Asn	missense variant	-	NC_000005.10:g.37201676C>T	gnomAD
rs377503881	p.Arg1143Lys	missense variant	-	NC_000005.10:g.37201670C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM6103717	p.Gly1146Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37201661C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly1146Ala	missense variant	-	NC_000005.10:g.37201661C>G	NCI-TCGA
rs1277375602	p.Pro1149Ser	missense variant	-	NC_000005.10:g.37201653G>A	gnomAD
NCI-TCGA novel	p.Pro1149Thr	missense variant	-	NC_000005.10:g.37201653G>T	NCI-TCGA
rs1385676594	p.Gly1151Asp	missense variant	-	NC_000005.10:g.37201646C>T	gnomAD
rs758532792	p.Gly1151Ser	missense variant	-	NC_000005.10:g.37201647C>T	ExAC,gnomAD
rs1188212004	p.Pro1157Ala	missense variant	-	NC_000005.10:g.37201629G>C	TOPMed
rs765095201	p.Cys1161Arg	missense variant	-	NC_000005.10:g.37201617A>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro1162Thr	missense variant	-	NC_000005.10:g.37201614G>T	NCI-TCGA
rs147670074	p.Pro1164Thr	missense variant	-	NC_000005.10:g.37201608G>T	gnomAD
rs147670074	p.Pro1164Ser	missense variant	-	NC_000005.10:g.37201608G>A	gnomAD
rs759463156	p.Ala1165Val	missense variant	-	NC_000005.10:g.37201604G>A	ExAC,TOPMed,gnomAD
rs201653949	p.Ile1166Thr	missense variant	-	NC_000005.10:g.37201601A>G	ExAC,TOPMed,gnomAD
rs1200221535	p.Ser1168Asn	missense variant	-	NC_000005.10:g.37201595C>T	gnomAD
COSM3616009	p.Glu1169Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37201593C>T	NCI-TCGA Cosmic
rs1345711681	p.Gly1172Arg	missense variant	-	NC_000005.10:g.37198860C>G	gnomAD
rs766202411	p.Gly1172Asp	missense variant	-	NC_000005.10:g.37198859C>T	ExAC,gnomAD
rs1345711681	p.Gly1172Ser	missense variant	-	NC_000005.10:g.37198860C>T	gnomAD
rs760601336	p.Asp1174Tyr	missense variant	-	NC_000005.10:g.37198854C>A	ExAC,TOPMed,gnomAD
rs367962908	p.Leu1175Phe	missense variant	-	NC_000005.10:g.37198851G>A	ESP,ExAC
NCI-TCGA novel	p.Leu1176His	missense variant	-	NC_000005.10:g.37198847A>T	NCI-TCGA
NCI-TCGA novel	p.Leu1176Ile	missense variant	-	NC_000005.10:g.37198848G>T	NCI-TCGA
rs144890880	p.Lys1178Asn	missense variant	-	NC_000005.10:g.37198840T>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys1181Gln	missense variant	-	NC_000005.10:g.37198833T>G	NCI-TCGA
rs768254433	p.Asn1182Ser	missense variant	-	NC_000005.10:g.37198829T>C	ExAC,TOPMed,gnomAD
rs769153428	p.Asn1182IlePheSerTerUnkUnk	frameshift	-	NC_000005.10:g.37198829T>-	NCI-TCGA
rs768254433	p.Asn1182Ile	missense variant	-	NC_000005.10:g.37198829T>A	ExAC,TOPMed,gnomAD
rs762349115	p.Asn1183Ser	missense variant	-	NC_000005.10:g.37198826T>C	ExAC,gnomAD
rs548645125	p.Arg1184His	missense variant	-	NC_000005.10:g.37198823C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs548645125	p.Arg1184Leu	missense variant	-	NC_000005.10:g.37198823C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1434631255	p.Arg1184Cys	missense variant	-	NC_000005.10:g.37198824G>A	TOPMed,gnomAD
rs747382965	p.Lys1186Arg	missense variant	-	NC_000005.10:g.37198817T>C	ExAC,TOPMed,gnomAD
rs1181751560	p.Val1187Ile	missense variant	-	NC_000005.10:g.37198815C>T	TOPMed
rs1044536894	p.Ser1188Cys	missense variant	-	NC_000005.10:g.37198811G>C	gnomAD
rs1418793562	p.Ile1190Val	missense variant	-	NC_000005.10:g.37198806T>C	TOPMed
rs1162813263	p.Gln1192Ter	stop gained	-	NC_000005.10:g.37198800G>A	TOPMed
rs778057793	p.Gln1192Arg	missense variant	-	NC_000005.10:g.37198799T>C	ExAC,gnomAD
rs1162813263	p.Gln1192Ter	stop gained	-	NC_000005.10:g.37198800G>A	NCI-TCGA
rs149170427	p.Arg1193Cys	missense variant	-	NC_000005.10:g.37198797G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs751692515	p.Arg1193His	missense variant	-	NC_000005.10:g.37198796C>T	ExAC,gnomAD
rs751692515	p.Arg1193His	missense variant	-	NC_000005.10:g.37198796C>T	NCI-TCGA
RCV000646706	p.Arg1193Cys	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37198797G>A	ClinVar
rs778969792	p.Val1194Leu	missense variant	-	NC_000005.10:g.37198794C>G	ExAC,gnomAD
COSM1067806	p.Leu1195Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37198791G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu1195Ile	missense variant	-	NC_000005.10:g.37198791G>T	NCI-TCGA
VAR_076778	p.Leu1196Arg	Missense	-	-	UniProt
rs374075447	p.Arg1199Trp	missense variant	-	NC_000005.10:g.37198779G>A	ExAC,TOPMed,gnomAD
RCV000378181	p.Arg1199Trp	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37198779G>A	ClinVar
rs569380288	p.Arg1199Gln	missense variant	-	NC_000005.10:g.37198778C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs141153181	p.Ala1200Val	missense variant	-	NC_000005.10:g.37198775G>A	ESP,ExAC,TOPMed,gnomAD
rs141153181	p.Ala1200Glu	missense variant	-	NC_000005.10:g.37198775G>T	ESP,ExAC,TOPMed,gnomAD
rs141153181	p.Ala1200Val	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37198775G>A	UniProt,dbSNP
VAR_077558	p.Ala1200Val	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37198775G>A	UniProt
RCV000255261	p.Ala1200Val	missense variant	-	NC_000005.10:g.37198775G>A	ClinVar
RCV000201619	p.Ala1200Val	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37198775G>A	ClinVar
rs1355627908	p.Gln1202Pro	missense variant	-	NC_000005.10:g.37198769T>G	TOPMed
rs750256343	p.Gln1202Ter	stop gained	-	NC_000005.10:g.37198770G>A	ExAC,gnomAD
rs1285153556	p.Cys1203Tyr	missense variant	-	NC_000005.10:g.37198766C>T	gnomAD
rs1234733049	p.Cys1203Arg	missense variant	-	NC_000005.10:g.37198767A>G	TOPMed
rs370215852	p.Ser1204Phe	missense variant	-	NC_000005.10:g.37198763G>A	ESP,ExAC,TOPMed,gnomAD
rs751276020	p.Pro1206Ser	missense variant	-	NC_000005.10:g.37198758G>A	ExAC,gnomAD
rs751276020	p.Pro1206Ser	missense variant	-	NC_000005.10:g.37198758G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1420878101	p.Val1207Ile	missense variant	-	NC_000005.10:g.37198755C>T	gnomAD
rs763642816	p.Val1207Ala	missense variant	-	NC_000005.10:g.37198754A>G	ExAC,TOPMed,gnomAD
rs1253543807	p.Ala1208Val	missense variant	-	NC_000005.10:g.37198751G>A	TOPMed
NCI-TCGA novel	p.Ala1208Thr	missense variant	-	NC_000005.10:g.37198752C>T	NCI-TCGA
rs762591555	p.Gln1209Arg	missense variant	-	NC_000005.10:g.37198748T>C	ExAC,TOPMed,gnomAD
rs762591555	p.Gln1209Pro	missense variant	-	NC_000005.10:g.37198748T>G	ExAC,TOPMed,gnomAD
RCV000499935	p.Gln1209Pro	missense variant	-	NC_000005.10:g.37198748T>G	ClinVar
rs774797422	p.Trp1210Arg	missense variant	-	NC_000005.10:g.37198746A>G	ExAC,gnomAD
rs1258500319	p.Gln1214Ter	stop gained	-	NC_000005.10:g.37198734G>A	TOPMed
rs772468592	p.Ala1218Thr	missense variant	-	NC_000005.10:g.37198722C>T	ExAC,gnomAD
rs748487179	p.Arg1219Gly	missense variant	-	NC_000005.10:g.37198719T>C	ExAC,gnomAD
rs1486811354	p.Lys1220Glu	missense variant	-	NC_000005.10:g.37198716T>C	TOPMed
RCV000658399	p.Met1222Thr	missense variant	-	NC_000005.10:g.37198709A>G	ClinVar
rs768751619	p.Met1222Thr	missense variant	-	NC_000005.10:g.37198709A>G	ExAC,TOPMed,gnomAD
rs551169453	p.Met1222Val	missense variant	-	NC_000005.10:g.37198710T>C	1000Genomes,ExAC,gnomAD
rs1223217993	p.Met1222Ile	missense variant	-	NC_000005.10:g.37198708C>T	gnomAD
rs749421099	p.Arg1226Ter	stop gained	-	NC_000005.10:g.37195993G>A	ExAC,gnomAD
COSM2688356	p.Arg1226Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37195992C>T	NCI-TCGA Cosmic
RCV000493929	p.Arg1226Ter	nonsense	-	NC_000005.10:g.37195993G>A	ClinVar
NCI-TCGA novel	p.Arg1226SerPheSerTerUnk	frameshift	-	NC_000005.10:g.37195993_37195994insATTTGGGA	NCI-TCGA
rs749421099	p.Arg1226Ter	stop gained	-	NC_000005.10:g.37195993G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1057522278	p.Gly1229Arg	missense variant	-	NC_000005.10:g.37195984C>G	-
RCV000432714	p.Gly1229Arg	missense variant	-	NC_000005.10:g.37195984C>G	ClinVar
rs1221461456	p.Ser1230Phe	missense variant	-	NC_000005.10:g.37195980G>A	gnomAD
rs1325366988	p.Leu1231Pro	missense variant	-	NC_000005.10:g.37195977A>G	gnomAD
COSM1695635	p.Pro1232Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37195975G>A	NCI-TCGA Cosmic
rs1438970950	p.Pro1236Arg	missense variant	-	NC_000005.10:g.37195962G>C	TOPMed,gnomAD
rs1438970950	p.Pro1236Leu	missense variant	-	NC_000005.10:g.37195962G>A	TOPMed,gnomAD
rs376959659	p.Phe1237Leu	missense variant	-	NC_000005.10:g.37195960A>G	ESP,ExAC,TOPMed,gnomAD
rs745930406	p.Gln1239Leu	missense variant	-	NC_000005.10:g.37195953T>A	ExAC,TOPMed,gnomAD
rs745930406	p.Gln1239Pro	missense variant	-	NC_000005.10:g.37195953T>G	ExAC,TOPMed,gnomAD
rs745930406	p.Gln1239Arg	missense variant	-	NC_000005.10:g.37195953T>C	ExAC,TOPMed,gnomAD
rs1384765402	p.Asn1243Ser	missense variant	-	NC_000005.10:g.37195941T>C	TOPMed
COSM1695633	p.Gly1247Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37195929C>T	NCI-TCGA Cosmic
RCV000544915	p.Gly1248Asp	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37195926C>T	ClinVar
rs72736758	p.Gly1248Val	missense variant	-	NC_000005.10:g.37195926C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs770925354	p.Gly1248Ser	missense variant	-	NC_000005.10:g.37195927C>T	ExAC,TOPMed,gnomAD
rs72736758	p.Gly1248Asp	missense variant	-	NC_000005.10:g.37195926C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000145359	p.Gly1248Asp	missense variant	-	NC_000005.10:g.37195926C>T	ClinVar
rs1447664633	p.Ile1249Asn	missense variant	-	NC_000005.10:g.37195923A>T	gnomAD
rs752334335	p.Ala1250Pro	missense variant	-	NC_000005.10:g.37195921C>G	ExAC,gnomAD
rs752334335	p.Ala1250Thr	missense variant	-	NC_000005.10:g.37195921C>T	NCI-TCGA,NCI-TCGA Cosmic
rs752334335	p.Ala1250Thr	missense variant	-	NC_000005.10:g.37195921C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala1250Glu	missense variant	-	NC_000005.10:g.37195920G>T	NCI-TCGA
NCI-TCGA novel	p.Phe1251Tyr	missense variant	-	NC_000005.10:g.37195917A>T	NCI-TCGA
NCI-TCGA novel	p.Phe1252LeuPheSerTerUnkUnk	frameshift	-	NC_000005.10:g.37195913A>-	NCI-TCGA
NCI-TCGA novel	p.Pro1254His	missense variant	-	NC_000005.10:g.37195908G>T	NCI-TCGA
rs1197175701	p.Gly1255Arg	missense variant	-	NC_000005.10:g.37195906C>T	TOPMed
rs527328313	p.Ala1257Asp	missense variant	-	NC_000005.10:g.37195899G>T	1000Genomes,ExAC,gnomAD
rs768012177	p.His1260Tyr	missense variant	-	NC_000005.10:g.37195891G>A	ExAC,TOPMed,gnomAD
rs768012177	p.His1260Asp	missense variant	-	NC_000005.10:g.37195891G>C	ExAC,TOPMed,gnomAD
rs1189719264	p.Lys1261Arg	missense variant	-	NC_000005.10:g.37195887T>C	gnomAD
rs1313359795	p.Leu1262Ile	missense variant	-	NC_000005.10:g.37195885G>T	gnomAD
rs751975523	p.Asp1263Asn	missense variant	-	NC_000005.10:g.37195882C>T	ExAC,TOPMed,gnomAD
rs751975523	p.Asp1263His	missense variant	-	NC_000005.10:g.37195882C>G	ExAC,TOPMed,gnomAD
rs751975523	p.Asp1263Asn	missense variant	-	NC_000005.10:g.37195882C>T	NCI-TCGA,NCI-TCGA Cosmic
COSM3616005	p.Ser1266Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37195872G>A	NCI-TCGA Cosmic
rs1310199621	p.Ser1266Ala	missense variant	-	NC_000005.10:g.37195873A>C	gnomAD
rs763344941	p.Ile1267Val	missense variant	-	NC_000005.10:g.37195870T>C	ExAC,gnomAD
rs1212662578	p.Ile1267Asn	missense variant	-	NC_000005.10:g.37195869A>T	gnomAD
rs1304431838	p.Ala1269Val	missense variant	-	NC_000005.10:g.37195863G>A	gnomAD
rs775914551	p.Ala1269Pro	missense variant	-	NC_000005.10:g.37195864C>G	ExAC,gnomAD
rs1466483851	p.Ile1270Thr	missense variant	-	NC_000005.10:g.37195860A>G	gnomAD
rs1391167819	p.Ile1270Val	missense variant	-	NC_000005.10:g.37195861T>C	TOPMed
NCI-TCGA novel	p.Ile1270Arg	missense variant	-	NC_000005.10:g.37195860A>C	NCI-TCGA
NCI-TCGA novel	p.Gly1271Cys	missense variant	-	NC_000005.10:g.37195858C>A	NCI-TCGA
COSM259830	p.Glu1275Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.37187831C>A	NCI-TCGA Cosmic
COSM3855085	p.Glu1275Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37187829T>G	NCI-TCGA Cosmic
rs1354601410	p.Glu1275Gly	missense variant	-	NC_000005.10:g.37187830T>C	gnomAD
NCI-TCGA novel	p.Cys1277Phe	missense variant	-	NC_000005.10:g.37187824C>A	NCI-TCGA
rs1285942232	p.Ala1278Val	missense variant	-	NC_000005.10:g.37187821G>A	gnomAD
rs149685637	p.Cys1280Tyr	missense variant	-	NC_000005.10:g.37187815C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1554086273	p.Met1282Ile	missense variant	-	NC_000005.10:g.37187808C>T	-
RCV000593461	p.Met1282Ile	missense variant	-	NC_000005.10:g.37187808C>T	ClinVar
rs750886653	p.Val1285Ile	missense variant	-	NC_000005.10:g.37187801C>T	TOPMed,gnomAD
rs139464953	p.Arg1286His	missense variant	-	NC_000005.10:g.37187797C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs757814360	p.Arg1286Gly	missense variant	-	NC_000005.10:g.37187798G>C	ExAC,gnomAD
rs757814360	p.Arg1286Cys	missense variant	-	NC_000005.10:g.37187798G>A	ExAC,gnomAD
rs606231261	p.Asp1287His	missense variant	-	NC_000005.10:g.37187795C>G	ExAC,gnomAD
RCV000144861	p.Asp1287His	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37187795C>G	ClinVar
COSM3994304	p.Ser1290Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37187785G>C	NCI-TCGA Cosmic
rs372625524	p.Tyr1291Cys	missense variant	-	NC_000005.10:g.37187782T>C	ESP,ExAC,TOPMed,gnomAD
rs1430788919	p.Cys1293Tyr	missense variant	-	NC_000005.10:g.37187776C>T	TOPMed
rs1262508455	p.Gln1295Pro	missense variant	-	NC_000005.10:g.37187770T>G	TOPMed,gnomAD
rs765570914	p.Gln1297Pro	missense variant	-	NC_000005.10:g.37187764T>G	ExAC,gnomAD
rs759784464	p.Ala1299Thr	missense variant	-	NC_000005.10:g.37187759C>T	ExAC,gnomAD
COSM3429427	p.Glu1301Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.37187753C>A	NCI-TCGA Cosmic
rs1333838533	p.Val1303Ala	missense variant	-	NC_000005.10:g.37187746A>G	gnomAD
NCI-TCGA novel	p.Glu1306Ter	stop gained	-	NC_000005.10:g.37187738C>A	NCI-TCGA
COSM3828035	p.Glu1310Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37187566C>T	NCI-TCGA Cosmic
rs1408467437	p.Glu1310Gln	missense variant	-	NC_000005.10:g.37187566C>G	TOPMed
rs372325164	p.Val1311Met	missense variant	-	NC_000005.10:g.37187563C>T	TOPMed
rs766614269	p.Glu1312Gln	missense variant	-	NC_000005.10:g.37187560C>G	ExAC,TOPMed,gnomAD
rs766614269	p.Glu1312Lys	missense variant	-	NC_000005.10:g.37187560C>T	ExAC,TOPMed,gnomAD
rs1011254847	p.Phe1313Leu	missense variant	-	NC_000005.10:g.37187557A>G	TOPMed
COSM3828033	p.Asp1314His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37187554C>G	NCI-TCGA Cosmic
rs1214966380	p.Ser1315Phe	missense variant	-	NC_000005.10:g.37187550G>A	TOPMed
rs760729964	p.Cys1316Tyr	missense variant	-	NC_000005.10:g.37187547C>T	ExAC,gnomAD
rs1474739966	p.Met1317Val	missense variant	-	NC_000005.10:g.37187545T>C	TOPMed,gnomAD
rs773273065	p.Ile1318Val	missense variant	-	NC_000005.10:g.37187542T>C	ExAC,TOPMed,gnomAD
rs767365216	p.His1320Gln	missense variant	-	NC_000005.10:g.37187534G>C	ExAC,gnomAD
rs1251315523	p.Cys1321Ser	missense variant	-	NC_000005.10:g.37187533A>T	gnomAD
rs774161604	p.Glu1326Gln	missense variant	-	NC_000005.10:g.37187518C>G	ExAC,TOPMed,gnomAD
rs899509090	p.Trp1327Cys	missense variant	-	NC_000005.10:g.37187513C>A	TOPMed
rs768480018	p.Ala1328Thr	missense variant	-	NC_000005.10:g.37187512C>T	ExAC,gnomAD
rs768480018	p.Ala1328Ser	missense variant	-	NC_000005.10:g.37187512C>A	ExAC,gnomAD
rs367543061	p.Arg1336Trp	missense variant	Joubert syndrome 17 (jbts17)	NC_000005.10:g.37187488G>A	ESP,TOPMed,gnomAD
rs749057824	p.Arg1336Gln	missense variant	-	NC_000005.10:g.37187487C>T	ExAC,gnomAD
rs367543061	p.Arg1336Trp	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37187488G>A	UniProt,dbSNP
VAR_068165	p.Arg1336Trp	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37187488G>A	UniProt
RCV000522403	p.Arg1336Trp	missense variant	-	NC_000005.10:g.37187488G>A	ClinVar
rs749057824	p.Arg1336Gln	missense variant	-	NC_000005.10:g.37187487C>T	NCI-TCGA
rs775061417	p.Phe1337Leu	missense variant	-	NC_000005.10:g.37187485A>G	ExAC,TOPMed,gnomAD
COSM3855083	p.Phe1338Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37187482A>G	NCI-TCGA Cosmic
rs1336701878	p.Asn1339Ser	missense variant	-	NC_000005.10:g.37187478T>C	gnomAD
rs769423338	p.Met1340Thr	missense variant	-	NC_000005.10:g.37187475A>G	ExAC,gnomAD
COSM1437364	p.Glu1341Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37187473C>T	NCI-TCGA Cosmic
rs1475996936	p.Glu1342Lys	missense variant	-	NC_000005.10:g.37187470C>T	TOPMed
rs1408712462	p.Gln1345Ter	stop gained	-	NC_000005.10:g.37187461G>A	gnomAD
rs869312898	p.Gln1345Arg	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37187460T>C	UniProt,dbSNP
VAR_076779	p.Gln1345Arg	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37187460T>C	UniProt
rs869312898	p.Gln1345Arg	missense variant	-	NC_000005.10:g.37187460T>C	-
RCV000210418	p.Gln1345Arg	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37187460T>C	ClinVar
rs1184183855	p.Asp1346Asn	missense variant	-	NC_000005.10:g.37187458C>T	gnomAD
rs745385982	p.Ile1347Leu	missense variant	-	NC_000005.10:g.37187455T>A	ExAC,gnomAD
rs1174835605	p.Ile1348Val	missense variant	-	NC_000005.10:g.37187452T>C	gnomAD
NCI-TCGA novel	p.Ile1348Leu	missense variant	-	NC_000005.10:g.37187452T>G	NCI-TCGA
rs1434137839	p.Ser1350Thr	missense variant	-	NC_000005.10:g.37187445C>G	gnomAD
NCI-TCGA novel	p.Ser1350Asn	missense variant	-	NC_000005.10:g.37187445C>T	NCI-TCGA
NCI-TCGA novel	p.Leu1351Arg	missense variant	-	NC_000005.10:g.37187442A>C	NCI-TCGA
rs146808769	p.Ile1352Val	missense variant	-	NC_000005.10:g.37187440T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs759005825	p.Ile1352Thr	missense variant	-	NC_000005.10:g.37187439A>G	ExAC,TOPMed,gnomAD
rs146808769	p.Ile1352Phe	missense variant	-	NC_000005.10:g.37187440T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs748709023	p.Gly1353Arg	missense variant	-	NC_000005.10:g.37187437C>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu1354Gln	missense variant	-	NC_000005.10:g.37187434C>G	NCI-TCGA
rs1177512793	p.Ile1358Val	missense variant	-	NC_000005.10:g.37187422T>C	TOPMed
rs145018253	p.Ile1358Met	missense variant	-	NC_000005.10:g.37187420G>C	ESP,ExAC,TOPMed,gnomAD
COSM6103719	p.Lys1360Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37187415T>A	NCI-TCGA Cosmic
rs780415009	p.Ala1362Val	missense variant	-	NC_000005.10:g.37186390G>A	ExAC,gnomAD
rs376146201	p.Ile1364Val	missense variant	-	NC_000005.10:g.37186385T>C	ESP,ExAC,TOPMed,gnomAD
rs781367784	p.Val1366Met	missense variant	-	NC_000005.10:g.37186379C>T	ExAC,TOPMed,gnomAD
COSM4915129	p.Ala1368Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37186373C>A	NCI-TCGA Cosmic
rs373443151	p.Ala1368Thr	missense variant	-	NC_000005.10:g.37186373C>T	ESP,ExAC,TOPMed,gnomAD
rs1431507702	p.Ala1368Val	missense variant	-	NC_000005.10:g.37186372G>A	gnomAD
COSM3616003	p.Pro1370Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37186367G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu1373Ter	stop gained	-	NC_000005.10:g.37186358C>A	NCI-TCGA
rs546036802	p.Val1375Leu	missense variant	-	NC_000005.10:g.37186352C>G	ExAC,TOPMed,gnomAD
rs546036802	p.Val1375Met	missense variant	-	NC_000005.10:g.37186352C>T	ExAC,TOPMed,gnomAD
rs889635214	p.Val1377Phe	missense variant	-	NC_000005.10:g.37186346C>A	TOPMed
rs752467139	p.Pro1378Ser	missense variant	-	NC_000005.10:g.37186343G>A	ExAC,TOPMed,gnomAD
COSM482795	p.Leu1379Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37186340A>C	NCI-TCGA Cosmic
rs1425618127	p.Arg1380Lys	missense variant	-	NC_000005.10:g.37186336C>T	gnomAD
rs776405287	p.Lys1382Asn	missense variant	-	NC_000005.10:g.37186329T>A	ExAC,gnomAD
rs1239905562	p.Tyr1383His	missense variant	-	NC_000005.10:g.37186328A>G	gnomAD
rs376548658	p.His1384Tyr	missense variant	-	NC_000005.10:g.37186325G>A	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1385Tyr	missense variant	-	NC_000005.10:g.37186321G>T	NCI-TCGA
rs769304117	p.Leu1386Phe	missense variant	-	NC_000005.10:g.37186319G>A	ExAC,TOPMed,gnomAD
rs749760656	p.His1387Tyr	missense variant	-	NC_000005.10:g.37186316G>A	ExAC,gnomAD
rs1339146627	p.Gln1388Glu	missense variant	-	NC_000005.10:g.37186313G>C	TOPMed
rs1361328165	p.Gln1388Arg	missense variant	-	NC_000005.10:g.37186312T>C	gnomAD
rs780391877	p.Leu1390Val	missense variant	-	NC_000005.10:g.37186307G>C	ExAC,gnomAD
rs1443368612	p.Leu1390His	missense variant	-	NC_000005.10:g.37186306A>T	gnomAD
NCI-TCGA novel	p.Leu1390Arg	missense variant	-	NC_000005.10:g.37186306A>C	NCI-TCGA
rs1325496229	p.His1392Gln	missense variant	-	NC_000005.10:g.37186299G>C	gnomAD
rs753392667	p.His1392Arg	missense variant	-	NC_000005.10:g.37186300T>C	TOPMed,gnomAD
rs113930638	p.Val1394Ala	missense variant	-	NC_000005.10:g.37186294A>G	ESP,ExAC,TOPMed,gnomAD
rs770242030	p.Val1394Ile	missense variant	-	NC_000005.10:g.37186295C>T	ExAC,gnomAD
rs781459642	p.Val1395Met	missense variant	-	NC_000005.10:g.37186292C>T	ExAC,gnomAD
rs781459642	p.Val1395Leu	missense variant	-	NC_000005.10:g.37186292C>G	ExAC,gnomAD
rs1454337663	p.Gly1397Arg	missense variant	-	NC_000005.10:g.37186286C>T	gnomAD
NCI-TCGA novel	p.Gly1397Glu	missense variant	-	NC_000005.10:g.37185079C>T	NCI-TCGA
rs1478531273	p.Pro1398Leu	missense variant	-	NC_000005.10:g.37185076G>A	TOPMed
rs770196773	p.Pro1398Ser	missense variant	-	NC_000005.10:g.37185077G>A	ExAC,gnomAD
COSM272426	p.Thr1400Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37185070G>C	NCI-TCGA Cosmic
rs1371963347	p.Met1404Ile	missense variant	-	NC_000005.10:g.37185057C>T	TOPMed
rs746246732	p.Val1406Asp	missense variant	-	NC_000005.10:g.37185052A>T	ExAC,gnomAD
rs1478669127	p.Val1407Ala	missense variant	-	NC_000005.10:g.37185049A>G	TOPMed
rs538511134	p.Met1408Val	missense variant	-	NC_000005.10:g.37185047T>C	1000Genomes
NCI-TCGA novel	p.His1409Tyr	missense variant	-	NC_000005.10:g.37185044G>A	NCI-TCGA
NCI-TCGA novel	p.Val1414Leu	missense variant	-	NC_000005.10:g.37185029C>A	NCI-TCGA
rs376365094	p.Val1416Met	missense variant	-	NC_000005.10:g.37185023C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1232354293	p.Val1416Ala	missense variant	-	NC_000005.10:g.37185022A>G	TOPMed,gnomAD
rs748175071	p.Ala1418Thr	missense variant	-	NC_000005.10:g.37185017C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala1418Val	missense variant	-	NC_000005.10:g.37185016G>A	NCI-TCGA
rs1390549177	p.Leu1419Gln	missense variant	-	NC_000005.10:g.37185013A>T	gnomAD
rs778919269	p.Arg1421Cys	missense variant	-	NC_000005.10:g.37185008G>A	NCI-TCGA
rs139594497	p.Arg1421His	missense variant	-	NC_000005.10:g.37185007C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778919269	p.Arg1421Cys	missense variant	-	NC_000005.10:g.37185008G>A	ExAC,TOPMed,gnomAD
rs766231962	p.Gln1423Lys	missense variant	-	NC_000005.10:g.37185002G>T	ExAC,gnomAD
rs1317786727	p.Gln1423His	missense variant	-	NC_000005.10:g.37185000C>G	TOPMed
rs1171271425	p.Arg1424Gly	missense variant	-	NC_000005.10:g.37184999T>C	gnomAD
rs1454898277	p.Arg1424Ile	missense variant	-	NC_000005.10:g.37184998C>A	gnomAD
NCI-TCGA novel	p.Asn1425His	missense variant	-	NC_000005.10:g.37184996T>G	NCI-TCGA
RCV000625729	p.Ile1426Thr	missense variant	Inborn genetic diseases	NC_000005.10:g.37184992A>G	ClinVar
rs1363959972	p.Ile1426Val	missense variant	-	NC_000005.10:g.37184993T>C	TOPMed,gnomAD
rs1157940387	p.Ile1426Thr	missense variant	-	NC_000005.10:g.37184992A>G	gnomAD
rs1282129143	p.Gly1427Ala	missense variant	-	NC_000005.10:g.37184989C>G	gnomAD
rs1418824450	p.Ser1428Tyr	missense variant	-	NC_000005.10:g.37184986G>T	gnomAD
rs755938936	p.Phe1429Leu	missense variant	-	NC_000005.10:g.37184982A>C	ExAC,TOPMed,gnomAD
COSM5553258	p.Glu1430Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37184981C>T	NCI-TCGA Cosmic
rs1276479001	p.Val1431Met	missense variant	-	NC_000005.10:g.37184978C>T	TOPMed
rs1486318076	p.Asn1432Ser	missense variant	-	NC_000005.10:g.37184974T>C	gnomAD
rs750146106	p.Ile1433Thr	missense variant	-	NC_000005.10:g.37184971A>G	ExAC,gnomAD
rs1198738179	p.Ile1433Met	missense variant	-	NC_000005.10:g.37184970T>C	gnomAD
rs148552198	p.Trp1434Arg	missense variant	-	NC_000005.10:g.37184969A>G	ESP,TOPMed
RCV000703873	p.Pro1436Ser	missense variant	-	NC_000005.10:g.37184963G>A	ClinVar
rs183021118	p.Pro1436Ser	missense variant	-	NC_000005.10:g.37184963G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000366707	p.Pro1436Ser	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37184963G>A	ClinVar
rs183021118	p.Pro1436Ala	missense variant	-	NC_000005.10:g.37184963G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000533691	p.Ile1437Thr	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37184959A>G	ClinVar
rs773668280	p.Ile1437Val	missense variant	-	NC_000005.10:g.37184960T>C	ExAC,TOPMed,gnomAD
rs6859950	p.Ile1437Thr	missense variant	-	NC_000005.10:g.37184959A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000145364	p.Ile1437Thr	missense variant	-	NC_000005.10:g.37184959A>G	ClinVar
COSM420711	p.Glu1439Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37184953T>A	NCI-TCGA Cosmic
RCV000607941	p.Glu1439Ter	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37184956del	ClinVar
NCI-TCGA novel	p.Glu1439Ter	stop gained	-	NC_000005.10:g.37184954C>A	NCI-TCGA
NCI-TCGA novel	p.Glu1440Asp	missense variant	-	NC_000005.10:g.37184949C>G	NCI-TCGA
rs372201329	p.Lys1441Arg	missense variant	-	NC_000005.10:g.37184947T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys1441IlePheSerTerUnkUnk	frameshift	-	NC_000005.10:g.37184947_37184948insGAAGAAAAAAGTAGGATAAA	NCI-TCGA
rs1201652001	p.Pro1442Ala	missense variant	-	NC_000005.10:g.37184945G>C	TOPMed
rs1201652001	p.Pro1442Thr	missense variant	-	NC_000005.10:g.37184945G>T	TOPMed
rs530026342	p.Asp1443Asn	missense variant	-	NC_000005.10:g.37184942C>T	1000Genomes,ExAC,gnomAD
rs771334779	p.Glu1444Gly	missense variant	-	NC_000005.10:g.37184938T>C	ExAC,gnomAD
rs747364413	p.Ala1445Ser	missense variant	-	NC_000005.10:g.37184936C>A	ExAC,gnomAD
rs149365619	p.Gly1447Arg	missense variant	-	NC_000005.10:g.37184930C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs550561225	p.Val1448Gly	missense variant	-	NC_000005.10:g.37184926A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs778806312	p.Asp1449Gly	missense variant	-	NC_000005.10:g.37184923T>C	ExAC,TOPMed,gnomAD
rs138792462	p.Ser1452Phe	missense variant	-	NC_000005.10:g.37184914G>A	ESP,ExAC,TOPMed,gnomAD
rs1475744173	p.Leu1453Pro	missense variant	-	NC_000005.10:g.37184911A>G	TOPMed,gnomAD
rs1475744173	p.Leu1453Gln	missense variant	-	NC_000005.10:g.37184911A>T	TOPMed,gnomAD
RCV000778767	p.Thr1455Ter	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37184910del	ClinVar
rs780113797	p.Ser1456Thr	missense variant	-	NC_000005.10:g.37184902C>G	ExAC,gnomAD
rs146075582	p.Arg1459Thr	missense variant	-	NC_000005.10:g.37184893C>G	ESP,ExAC,TOPMed,gnomAD
RCV000275097	p.Ser1460Thr	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37184890C>G	ClinVar
rs1388538165	p.Ser1460Arg	missense variant	-	NC_000005.10:g.37184891T>G	TOPMed
rs886060579	p.Ser1460Thr	missense variant	-	NC_000005.10:g.37184890C>G	-
RCV000176587	p.Thr1463Ile	missense variant	-	NC_000005.10:g.37184881G>A	ClinVar
rs767203223	p.Thr1463Pro	missense variant	-	NC_000005.10:g.37184882T>G	ExAC,TOPMed,gnomAD
rs767203223	p.Thr1463Ala	missense variant	-	NC_000005.10:g.37184882T>C	ExAC,TOPMed,gnomAD
rs202103224	p.Thr1463Ile	missense variant	-	NC_000005.10:g.37184881G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1466Ter	stop gained	-	NC_000005.10:g.37184873C>A	NCI-TCGA
NCI-TCGA novel	p.Asp1467Tyr	missense variant	-	NC_000005.10:g.37184870C>A	NCI-TCGA
COSM1437360	p.Ser1468Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37184866G>T	NCI-TCGA Cosmic
rs150556877	p.Ser1468Cys	missense variant	-	NC_000005.10:g.37184866G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000369776	p.Ser1468Cys	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37184866G>C	ClinVar
rs1326484626	p.Val1470Phe	missense variant	-	NC_000005.10:g.37184861C>A	gnomAD
rs754402532	p.Ser1472Asn	missense variant	-	NC_000005.10:g.37184854C>T	ExAC,gnomAD
rs766869139	p.Asp1475Gly	missense variant	-	NC_000005.10:g.37184845T>C	ExAC,gnomAD
rs1396140286	p.Thr1476Met	missense variant	-	NC_000005.10:g.37184842G>A	TOPMed,gnomAD
rs1462251885	p.Ala1480Ser	missense variant	-	NC_000005.10:g.37184831C>A	gnomAD
COSM5746399	p.Ser1482Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37184825A>G	NCI-TCGA Cosmic
rs973679173	p.Ser1482Leu	missense variant	-	NC_000005.10:g.37184824G>A	TOPMed,gnomAD
rs772365742	p.Val1483Ala	missense variant	-	NC_000005.10:g.37184821A>G	ExAC,gnomAD
rs772365742	p.Val1483Ala	missense variant	-	NC_000005.10:g.37184821A>G	NCI-TCGA,NCI-TCGA Cosmic
COSM1067800	p.Glu1485Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.37184816C>A	NCI-TCGA Cosmic
rs1447744662	p.Glu1485Lys	missense variant	-	NC_000005.10:g.37184816C>T	gnomAD
rs1194536301	p.Lys1486Asn	missense variant	-	NC_000005.10:g.37184811T>A	gnomAD
rs1255065055	p.Lys1486Gln	missense variant	-	NC_000005.10:g.37184813T>G	gnomAD
rs1255065055	p.Lys1486Gln	missense variant	-	NC_000005.10:g.37184813T>G	NCI-TCGA Cosmic
rs1023003480	p.Ser1487Arg	missense variant	-	NC_000005.10:g.37184808A>C	TOPMed,gnomAD
rs138157520	p.Ser1487Asn	missense variant	-	NC_000005.10:g.37184809C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000520136	p.Ser1487Asn	missense variant	-	NC_000005.10:g.37184809C>T	ClinVar
rs1197470926	p.Ile1491Met	missense variant	-	NC_000005.10:g.37184796G>C	TOPMed,gnomAD
rs895907055	p.Tyr1492Phe	missense variant	-	NC_000005.10:g.37184794T>A	TOPMed
rs895907055	p.Tyr1492Cys	missense variant	-	NC_000005.10:g.37184794T>C	TOPMed
rs768663702	p.Gln1493Leu	missense variant	-	NC_000005.10:g.37184791T>A	ExAC,gnomAD
rs1369223522	p.Arg1494Ile	missense variant	-	NC_000005.10:g.37184788C>A	TOPMed
rs1249678741	p.Ala1496Val	missense variant	-	NC_000005.10:g.37183694G>A	gnomAD
rs1262307874	p.Asn1498Asp	missense variant	-	NC_000005.10:g.37183689T>C	gnomAD
rs1262307874	p.Asn1498Asp	missense variant	-	NC_000005.10:g.37183689T>C	NCI-TCGA
rs763128117	p.His1499Arg	missense variant	-	NC_000005.10:g.37183685T>C	ExAC,gnomAD
rs377114029	p.His1499Gln	missense variant	-	NC_000005.10:g.37183684G>C	ESP,ExAC,TOPMed,gnomAD
rs372881701	p.Met1500Arg	missense variant	-	NC_000005.10:g.37183682A>C	ESP,ExAC,TOPMed,gnomAD
rs925086607	p.Met1500Val	missense variant	-	NC_000005.10:g.37183683T>C	TOPMed
NCI-TCGA novel	p.Met1500Thr	missense variant	-	NC_000005.10:g.37183682A>G	NCI-TCGA
NCI-TCGA novel	p.Met1500Ile	missense variant	-	NC_000005.10:g.37183681C>G	NCI-TCGA
rs1233100308	p.del1501Ter	stop gained	-	NC_000005.10:g.37183680_37183681insTTTA	gnomAD
rs745833276	p.Ile1505Val	missense variant	-	NC_000005.10:g.37183668T>C	ExAC,TOPMed,gnomAD
RCV000625259	p.His1506Arg	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37183664T>C	ClinVar
rs141911199	p.His1506Arg	missense variant	-	NC_000005.10:g.37183664T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1408591861	p.Thr1509Ala	missense variant	-	NC_000005.10:g.37183656T>C	TOPMed,gnomAD
rs1219880926	p.Asp1510Glu	missense variant	-	NC_000005.10:g.37183651A>T	gnomAD
COSM3855081	p.Arg1512Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37183647T>C	NCI-TCGA Cosmic
rs1377340492	p.Arg1512Lys	missense variant	-	NC_000005.10:g.37183646C>T	TOPMed,gnomAD
rs746816991	p.Cys1515Tyr	missense variant	-	NC_000005.10:g.37183637C>T	ExAC,TOPMed,gnomAD
rs1361363473	p.Asn1516Thr	missense variant	-	NC_000005.10:g.37183634T>G	gnomAD
NCI-TCGA novel	p.Gln1517His	missense variant	-	NC_000005.10:g.37183630C>G	NCI-TCGA
NCI-TCGA novel	p.Gln1517Pro	missense variant	-	NC_000005.10:g.37183631T>G	NCI-TCGA
rs777297584	p.Lys1518Glu	missense variant	-	NC_000005.10:g.37183629T>C	ExAC,gnomAD
rs757990951	p.Lys1518Arg	missense variant	-	NC_000005.10:g.37183628T>C	ExAC,gnomAD
COSM1067798	p.Glu1519Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37183626C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu1519Ter	stop gained	-	NC_000005.10:g.37183626C>A	NCI-TCGA
rs138874486	p.Pro1521Leu	missense variant	-	NC_000005.10:g.37183619G>A	1000Genomes,ExAC,gnomAD
rs536420243	p.Thr1522Ala	missense variant	-	NC_000005.10:g.37183617T>C	TOPMed,gnomAD
rs1363054900	p.Asp1526Tyr	missense variant	-	NC_000005.10:g.37183605C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Glu1528Lys	missense variant	-	NC_000005.10:g.37183599C>T	NCI-TCGA
NCI-TCGA novel	p.Lys1529Thr	missense variant	-	NC_000005.10:g.37183595T>G	NCI-TCGA
COSM3855079	p.Gln1532Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37183586T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn1533LysPheSerTerUnkUnk	frameshift	-	NC_000005.10:g.37183582_37183583insT	NCI-TCGA
rs757626213	p.Thr1534Ile	missense variant	-	NC_000005.10:g.37183580G>A	ExAC,gnomAD
COSM1328813	p.Pro1536His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37183574G>T	NCI-TCGA Cosmic
rs563406970	p.Val1537Ile	missense variant	-	NC_000005.10:g.37183572C>T	1000Genomes,ExAC,gnomAD
COSM3616001	p.Gly1539Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37183565C>T	NCI-TCGA Cosmic
rs370310194	p.Val1540Phe	missense variant	-	NC_000005.10:g.37183563C>A	ESP,ExAC,TOPMed,gnomAD
RCV000480065	p.Arg1545His	missense variant	-	NC_000005.10:g.37183547C>T	ClinVar
rs765457523	p.Arg1545His	missense variant	-	NC_000005.10:g.37183547C>T	ExAC,gnomAD
rs775743007	p.Arg1545Gly	missense variant	-	NC_000005.10:g.37183548G>C	ExAC,TOPMed,gnomAD
rs775743007	p.Arg1545Cys	missense variant	-	NC_000005.10:g.37183548G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp1547Asn	missense variant	-	NC_000005.10:g.37183542C>T	NCI-TCGA
rs759649053	p.Asp1548Ala	missense variant	-	NC_000005.10:g.37183538T>G	NCI-TCGA,NCI-TCGA Cosmic
RCV000605589	p.Asp1548Gly	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37183538T>C	ClinVar
rs759649053	p.Asp1548Gly	missense variant	-	NC_000005.10:g.37183538T>C	ExAC,TOPMed,gnomAD
rs759649053	p.Asp1548Ala	missense variant	-	NC_000005.10:g.37183538T>G	ExAC,TOPMed,gnomAD
rs544656011	p.Ile1551Val	missense variant	-	NC_000005.10:g.37183530T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1460832746	p.Lys1552Thr	missense variant	-	NC_000005.10:g.37183526T>G	TOPMed
COSM3429425	p.Phe1553Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37183522G>T	NCI-TCGA Cosmic
rs1156598682	p.Leu1554Arg	missense variant	-	NC_000005.10:g.37183520A>C	gnomAD
NCI-TCGA novel	p.Leu1554Ile	missense variant	-	NC_000005.10:g.37183521G>T	NCI-TCGA
rs1418423844	p.Leu1558Val	missense variant	-	NC_000005.10:g.37183509A>C	gnomAD
rs1298587616	p.Leu1558Ter	stop gained	-	NC_000005.10:g.37183508A>T	TOPMed
rs746797181	p.Ser1559Thr	missense variant	-	NC_000005.10:g.37183505C>G	ExAC,gnomAD
rs772945484	p.Tyr1560His	missense variant	-	NC_000005.10:g.37183503A>G	ExAC,TOPMed,gnomAD
COSM1067796	p.Leu1562Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37183497G>T	NCI-TCGA Cosmic
rs1389387167	p.Leu1562Phe	missense variant	-	NC_000005.10:g.37183497G>A	TOPMed
COSM3776675	p.Arg1564Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37183490C>G	NCI-TCGA Cosmic
rs1243394087	p.Asp1565Tyr	missense variant	-	NC_000005.10:g.37183488C>A	gnomAD
rs1216051482	p.Asp1565Val	missense variant	-	NC_000005.10:g.37183487T>A	TOPMed,gnomAD
rs982993369	p.Pro1567Arg	missense variant	-	NC_000005.10:g.37183481G>C	TOPMed
rs149158301	p.Pro1567Ser	missense variant	-	NC_000005.10:g.37183482G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1294406868	p.Arg1570Thr	missense variant	-	NC_000005.10:g.37183472C>G	TOPMed,gnomAD
rs148234583	p.Asp1573Gly	missense variant	-	NC_000005.10:g.37183463T>C	ESP,ExAC,gnomAD
rs148234583	p.Asp1573Val	missense variant	-	NC_000005.10:g.37183463T>A	ESP,ExAC,gnomAD
rs1272066782	p.Ile1574Val	missense variant	-	NC_000005.10:g.37183461T>C	gnomAD
rs748824091	p.Pro1575Ser	missense variant	-	NC_000005.10:g.37183458G>A	ExAC,gnomAD
rs781552290	p.Phe1576Tyr	missense variant	-	NC_000005.10:g.37183454A>T	ExAC,gnomAD
rs1027538017	p.Phe1580Ser	missense variant	-	NC_000005.10:g.37183442A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Phe1580Cys	missense variant	-	NC_000005.10:g.37183442A>C	NCI-TCGA
NCI-TCGA novel	p.Ser1581Phe	missense variant	-	NC_000005.10:g.37183439G>A	NCI-TCGA
rs757722798	p.Glu1586Gln	missense variant	-	NC_000005.10:g.37183425C>G	ExAC,gnomAD
rs938918381	p.His1587Arg	missense variant	-	NC_000005.10:g.37183421T>C	TOPMed
rs751890710	p.Leu1589Phe	missense variant	-	NC_000005.10:g.37183416G>A	ExAC,TOPMed,gnomAD
RCV000355011	p.Leu1589Phe	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37183416G>A	ClinVar
rs758814412	p.Phe1594Ser	missense variant	-	NC_000005.10:g.37183400A>G	ExAC,TOPMed,gnomAD
rs1186525850	p.Val1596Ala	missense variant	-	NC_000005.10:g.37183394A>G	gnomAD
RCV000608649	p.Thr1598Lys	missense variant	-	NC_000005.10:g.37183388G>T	ClinVar
rs1474802887	p.Thr1598Ala	missense variant	-	NC_000005.10:g.37183389T>C	gnomAD
rs147588579	p.Thr1598Lys	missense variant	-	NC_000005.10:g.37183388G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147588579	p.Thr1598Arg	missense variant	-	NC_000005.10:g.37183388G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1470084982	p.Thr1599Ile	missense variant	-	NC_000005.10:g.37183385G>A	TOPMed,gnomAD
rs1470084982	p.Thr1599Lys	missense variant	-	NC_000005.10:g.37183385G>T	TOPMed,gnomAD
COSM3615999	p.Leu1600Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37183383A>T	NCI-TCGA Cosmic
rs946036827	p.Lys1601Ter	stop gained	-	NC_000005.10:g.37183380T>A	gnomAD
rs946036827	p.Lys1601Glu	missense variant	-	NC_000005.10:g.37183380T>C	gnomAD
RCV000024221	p.Arg1602Ter	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37183377G>A	ClinVar
rs367543063	p.Arg1602Ter	stop gained	Joubert syndrome 17 (jbts17)	NC_000005.10:g.37183377G>A	TOPMed,gnomAD
rs367543063	p.Arg1602Gly	missense variant	Joubert syndrome 17 (jbts17)	NC_000005.10:g.37183377G>C	TOPMed,gnomAD
rs199711701	p.Arg1602Gln	missense variant	-	NC_000005.10:g.37183376C>T	gnomAD
rs367543063	p.Arg1602Ter	stop gained	-	NC_000005.10:g.37183377G>A	NCI-TCGA,NCI-TCGA Cosmic
rs760625416	p.His1603Arg	missense variant	-	NC_000005.10:g.37183373T>C	ExAC,TOPMed
rs896453652	p.His1603Tyr	missense variant	-	NC_000005.10:g.37183374G>A	TOPMed
rs1215183879	p.Lys1606Gln	missense variant	-	NC_000005.10:g.37183365T>G	gnomAD
NCI-TCGA novel	p.Lys1606Thr	missense variant	-	NC_000005.10:g.37183364T>G	NCI-TCGA
COSM3947487	p.Ser1609Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37183355C>T	NCI-TCGA Cosmic
rs773106854	p.Asn1611Lys	missense variant	-	NC_000005.10:g.37183348A>T	ExAC,TOPMed,gnomAD
rs990191430	p.Asn1611Asp	missense variant	-	NC_000005.10:g.37183350T>C	gnomAD
rs145059484	p.Asn1611Ser	missense variant	-	NC_000005.10:g.37183349T>C	ESP
rs1366531602	p.Val1612Met	missense variant	-	NC_000005.10:g.37183347C>T	TOPMed,gnomAD
rs771898985	p.Arg1614Thr	missense variant	-	NC_000005.10:g.37183340C>G	ExAC,TOPMed,gnomAD
rs747922408	p.Arg1614Ser	missense variant	-	NC_000005.10:g.37183339T>G	ExAC,gnomAD
rs771898985	p.Arg1614Ile	missense variant	-	NC_000005.10:g.37183340C>A	ExAC,TOPMed,gnomAD
rs1356148933	p.Gly1616Ala	missense variant	-	NC_000005.10:g.37183334C>G	gnomAD
NCI-TCGA novel	p.Gly1616Asp	missense variant	-	NC_000005.10:g.37183334C>T	NCI-TCGA
rs1383270775	p.Phe1619Ser	missense variant	-	NC_000005.10:g.37183325A>G	TOPMed
rs377517560	p.Pro1623Leu	missense variant	-	NC_000005.10:g.37183313G>A	ESP,ExAC,gnomAD
rs1394652636	p.Tyr1626Cys	missense variant	-	NC_000005.10:g.37183304T>C	gnomAD
rs768285147	p.Glu1627Gly	missense variant	-	NC_000005.10:g.37183301T>C	ExAC,gnomAD
COSM3615997	p.Ser1628Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37183298G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys1630Thr	missense variant	-	NC_000005.10:g.37183292T>G	NCI-TCGA
RCV000646705	p.Ser1631Leu	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37183289G>A	ClinVar
RCV000434578	p.Ser1631Leu	missense variant	-	NC_000005.10:g.37183289G>A	ClinVar
RCV000541702	p.Ser1631Ter	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37183295dup	ClinVar
rs748759724	p.Ser1631Leu	missense variant	-	NC_000005.10:g.37183289G>A	ExAC,gnomAD
rs1454490404	p.Ser1633Pro	missense variant	-	NC_000005.10:g.37183284A>G	gnomAD
rs779567146	p.Asn1635Lys	missense variant	-	NC_000005.10:g.37183276A>C	ExAC,gnomAD
rs747558469	p.Asp1636Gly	missense variant	-	NC_000005.10:g.37183274T>C	ExAC,gnomAD
rs747558469	p.Asp1636Val	missense variant	-	NC_000005.10:g.37183274T>A	ExAC,gnomAD
rs753046703	p.Met1640Ile	missense variant	-	NC_000005.10:g.37183261C>T	ExAC,gnomAD
rs758900927	p.Met1640Val	missense variant	-	NC_000005.10:g.37183263T>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu1643Gln	missense variant	-	NC_000005.10:g.37183254C>G	NCI-TCGA
NCI-TCGA novel	p.Asn1644His	missense variant	-	NC_000005.10:g.37183251T>G	NCI-TCGA
COSM737880	p.Ser1649Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37183235G>A	NCI-TCGA Cosmic
rs536461045	p.Ser1650Pro	missense variant	-	NC_000005.10:g.37183233A>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1650Leu	missense variant	-	NC_000005.10:g.37183232G>A	NCI-TCGA
rs1043977498	p.Gly1656Trp	missense variant	-	NC_000005.10:g.37183215C>A	TOPMed
rs767435113	p.Ile1657Met	missense variant	-	NC_000005.10:g.37183210G>C	ExAC,gnomAD
rs761598092	p.Lys1658Arg	missense variant	-	NC_000005.10:g.37183208T>C	ExAC,TOPMed,gnomAD
rs761598092	p.Lys1658Ile	missense variant	-	NC_000005.10:g.37183208T>A	ExAC,TOPMed,gnomAD
rs774071769	p.Phe1660Ser	missense variant	-	NC_000005.10:g.37183202A>G	ExAC,gnomAD
rs768213967	p.Leu1661Ter	stop gained	-	NC_000005.10:g.37183199A>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu1661PhePheSerTerUnk	frameshift	-	NC_000005.10:g.37183198_37183199insA	NCI-TCGA
rs547409263	p.Gln1662His	missense variant	-	NC_000005.10:g.37183195T>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000625257	p.Gln1662His	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37183195T>G	ClinVar
rs538648700	p.Pro1664Ser	missense variant	-	NC_000005.10:g.37183191G>A	1000Genomes,ExAC,gnomAD
rs745368500	p.Ser1665Leu	missense variant	-	NC_000005.10:g.37183187G>A	ExAC,TOPMed,gnomAD
rs748543409	p.Asn1666Ile	missense variant	-	NC_000005.10:g.37183184T>A	ExAC,gnomAD
RCV000503146	p.Asn1666Ile	missense variant	-	NC_000005.10:g.37183184T>A	ClinVar
rs779294280	p.Glu1667Asp	missense variant	-	NC_000005.10:g.37183180T>G	ExAC,gnomAD
rs1436271226	p.Asn1669Asp	missense variant	-	NC_000005.10:g.37183176T>C	TOPMed
NCI-TCGA novel	p.Lys1670Glu	missense variant	-	NC_000005.10:g.37183173T>C	NCI-TCGA
rs1034500146	p.Met1674Val	missense variant	-	NC_000005.10:g.37183161T>C	TOPMed
NCI-TCGA novel	p.Met1674Ile	missense variant	-	NC_000005.10:g.37183159C>A	NCI-TCGA
rs1360544370	p.Gly1676Glu	missense variant	-	NC_000005.10:g.37183154C>T	TOPMed
rs1483052986	p.Leu1677Ile	missense variant	-	NC_000005.10:g.37183152A>T	TOPMed,gnomAD
rs1304704416	p.Phe1678Tyr	missense variant	-	NC_000005.10:g.37183148A>T	TOPMed
NCI-TCGA novel	p.Gly1679Ser	missense variant	-	NC_000005.10:g.37183146C>T	NCI-TCGA
rs1213044055	p.Lys1681Arg	missense variant	-	NC_000005.10:g.37183139T>C	gnomAD
rs780129645	p.Gln1682His	missense variant	-	NC_000005.10:g.37183135T>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser1684Pro	missense variant	-	NC_000005.10:g.37183131A>G	NCI-TCGA
RCV000405142	p.Ile1685Thr	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37183127A>G	ClinVar
rs756287700	p.Ile1685Val	missense variant	-	NC_000005.10:g.37183128T>C	ExAC,TOPMed,gnomAD
rs750439635	p.Ile1685Thr	missense variant	-	NC_000005.10:g.37183127A>G	ExAC,gnomAD
COSM6103721	p.Lys1687Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37183120T>A	NCI-TCGA Cosmic
rs767457866	p.Lys1687Thr	missense variant	-	NC_000005.10:g.37183121T>G	ExAC,gnomAD
rs767457866	p.Lys1687Arg	missense variant	-	NC_000005.10:g.37183121T>C	ExAC,gnomAD
rs761691903	p.Gln1689Arg	missense variant	-	NC_000005.10:g.37183115T>C	ExAC,TOPMed,gnomAD
rs751387885	p.Asp1690Val	missense variant	-	NC_000005.10:g.37183112T>A	ExAC,gnomAD
rs763990143	p.Asp1691Glu	missense variant	-	NC_000005.10:g.37183108G>C	ExAC
rs1348488187	p.Asp1691Gly	missense variant	-	NC_000005.10:g.37183109T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Asp1691Asn	missense variant	-	NC_000005.10:g.37183110C>T	NCI-TCGA
COSM1437352	p.Arg1693Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37183103C>A	NCI-TCGA Cosmic
rs1317619046	p.Arg1693Gly	missense variant	-	NC_000005.10:g.37183104T>C	TOPMed
rs1295074686	p.Glu1694Asp	missense variant	-	NC_000005.10:g.37183099C>A	gnomAD
rs139362705	p.Cys1696Trp	missense variant	-	NC_000005.10:g.37183093A>C	ESP,ExAC,gnomAD
COSM6103723	p.Leu1697Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37183091A>G	NCI-TCGA Cosmic
rs571578015	p.Gln1699Arg	missense variant	-	NC_000005.10:g.37183085T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs190100945	p.Arg1700Ile	missense variant	-	NC_000005.10:g.37183082C>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM6103725	p.Ser1702Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37183077A>C	NCI-TCGA Cosmic
rs951746547	p.Ser1702Pro	missense variant	-	NC_000005.10:g.37183077A>G	TOPMed
rs1160277331	p.Ile1705Thr	missense variant	-	NC_000005.10:g.37183067A>G	gnomAD
rs1484885661	p.Ile1705Val	missense variant	-	NC_000005.10:g.37183068T>C	TOPMed
rs776230016	p.Phe1706Val	missense variant	-	NC_000005.10:g.37183065A>C	ExAC,gnomAD
COSM4611827	p.Trp1707GlyPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.37183062A>-	NCI-TCGA Cosmic
rs1187847396	p.Pro1709Thr	missense variant	-	NC_000005.10:g.37183056G>T	TOPMed
rs1253397526	p.Lys1710Gln	missense variant	-	NC_000005.10:g.37183053T>G	TOPMed
rs150888119	p.Lys1710Arg	missense variant	-	NC_000005.10:g.37183052T>C	ESP,ExAC,gnomAD
rs1455372537	p.Ser1711Cys	missense variant	-	NC_000005.10:g.37183049G>C	TOPMed
rs748701119	p.Ile1712Val	missense variant	-	NC_000005.10:g.37183047T>C	ExAC,TOPMed,gnomAD
rs748701119	p.Ile1712Leu	missense variant	-	NC_000005.10:g.37183047T>G	ExAC,TOPMed,gnomAD
rs1343049469	p.Ile1712Thr	missense variant	-	NC_000005.10:g.37183046A>G	gnomAD
rs1424442518	p.Thr1714Ile	missense variant	-	NC_000005.10:g.37183040G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Arg1716Ile	missense variant	-	NC_000005.10:g.37183034C>A	NCI-TCGA
rs765017990	p.Cys1717Tyr	missense variant	-	NC_000005.10:g.37183031C>T	TOPMed,gnomAD
rs886060578	p.Ile1718Val	missense variant	-	NC_000005.10:g.37183029T>C	gnomAD
RCV000340288	p.Ile1718Val	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37183029T>C	ClinVar
COSM4834413	p.Phe1719Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37183024G>C	NCI-TCGA Cosmic
rs769127057	p.Gln1723Ter	stop gained	-	NC_000005.10:g.37183014G>A	ExAC,gnomAD
rs769127057	p.Gln1723Ter	stop gained	-	NC_000005.10:g.37183014G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1269017314	p.Asp1726Glu	missense variant	-	NC_000005.10:g.37183003A>C	gnomAD
rs1457243252	p.Ile1727Leu	missense variant	-	NC_000005.10:g.37183002T>G	TOPMed
rs749614170	p.Ile1727Thr	missense variant	-	NC_000005.10:g.37183001A>G	ExAC,gnomAD
rs1274935542	p.Gln1730Ter	stop gained	-	NC_000005.10:g.37182993G>A	gnomAD
COSM3855075	p.Glu1731Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.37182990C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu1731Lys	missense variant	-	NC_000005.10:g.37182990C>T	NCI-TCGA
rs1339350744	p.Asp1732Tyr	missense variant	-	NC_000005.10:g.37182987C>A	gnomAD
rs756274300	p.Asp1732Gly	missense variant	-	NC_000005.10:g.37182986T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu1733Val	missense variant	-	NC_000005.10:g.37182984G>C	NCI-TCGA
rs1439099143	p.Pro1734Ser	missense variant	-	NC_000005.10:g.37182981G>A	NCI-TCGA Cosmic
rs1383417627	p.Pro1734Leu	missense variant	-	NC_000005.10:g.37182980G>A	gnomAD
rs1439099143	p.Pro1734Ser	missense variant	-	NC_000005.10:g.37182981G>A	TOPMed
NCI-TCGA novel	p.Pro1734His	missense variant	-	NC_000005.10:g.37182980G>T	NCI-TCGA
rs1319499094	p.Leu1735Phe	missense variant	-	NC_000005.10:g.37182976T>G	TOPMed,gnomAD
rs369286097	p.Leu1735Val	missense variant	-	NC_000005.10:g.37182978A>C	ESP,ExAC,TOPMed,gnomAD
rs781211084	p.Leu1737Pro	missense variant	-	NC_000005.10:g.37182971A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn1738Ser	missense variant	-	NC_000005.10:g.37182968T>C	NCI-TCGA
rs1386961278	p.Thr1739Ile	missense variant	-	NC_000005.10:g.37182965G>A	gnomAD
rs1023681472	p.Phe1740Ser	missense variant	-	NC_000005.10:g.37182962A>G	TOPMed,gnomAD
rs1208042566	p.Ser1742Cys	missense variant	-	NC_000005.10:g.37182957T>A	TOPMed
rs757297839	p.Gly1744Val	missense variant	-	NC_000005.10:g.37182950C>A	ExAC,TOPMed,gnomAD
rs1469672651	p.Arg1745Gly	missense variant	-	NC_000005.10:g.37182948T>C	TOPMed
NCI-TCGA novel	p.Arg1745Ile	missense variant	-	NC_000005.10:g.37182947C>A	NCI-TCGA
rs1013602304	p.Met1750Leu	missense variant	-	NC_000005.10:g.37182933T>G	TOPMed
rs763933855	p.Arg1752Lys	missense variant	-	NC_000005.10:g.37182926C>T	ExAC,gnomAD
rs763933855	p.Arg1752Met	missense variant	-	NC_000005.10:g.37182926C>A	ExAC,gnomAD
rs758217149	p.Trp1753Ter	stop gained	-	NC_000005.10:g.37182922C>T	ExAC,gnomAD
rs142400753	p.Asn1755Asp	missense variant	-	NC_000005.10:g.37182918T>C	ESP,ExAC,gnomAD
rs142400753	p.Asn1755His	missense variant	-	NC_000005.10:g.37182918T>G	ESP,ExAC,gnomAD
rs764962678	p.Arg1756Gly	missense variant	-	NC_000005.10:g.37182915T>C	ExAC,gnomAD
rs760244058	p.Arg1757Ser	missense variant	-	NC_000005.10:g.37182910C>A	ExAC,TOPMed,gnomAD
rs776388467	p.Arg1757Lys	missense variant	-	NC_000005.10:g.37182911C>T	ExAC,gnomAD
rs1355472894	p.Cys1760Arg	missense variant	-	NC_000005.10:g.37182903A>G	TOPMed,gnomAD
rs770320173	p.Asp1761Asn	missense variant	-	NC_000005.10:g.37182900C>T	ExAC,gnomAD
rs770320173	p.Asp1761Asn	missense variant	-	NC_000005.10:g.37182900C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1030990221	p.Asp1761Glu	missense variant	-	NC_000005.10:g.37182898A>C	TOPMed
rs1342293975	p.Ser1762Phe	missense variant	-	NC_000005.10:g.37182896G>A	gnomAD
rs140092205	p.Ile1764Lys	missense variant	-	NC_000005.10:g.37182890A>T	ESP,TOPMed
rs768980663	p.Ile1764Val	missense variant	-	NC_000005.10:g.37182891T>C	ExAC,TOPMed,gnomAD
rs1471946440	p.Thr1765Ser	missense variant	-	NC_000005.10:g.37182887G>C	TOPMed
rs1432514420	p.Glu1766Gly	missense variant	-	NC_000005.10:g.37182884T>C	gnomAD
rs1363455365	p.Ser1768Pro	missense variant	-	NC_000005.10:g.37182879A>G	gnomAD
rs1328427760	p.Ser1768Phe	missense variant	-	NC_000005.10:g.37182878G>A	gnomAD
rs1387719071	p.Ser1769Phe	missense variant	-	NC_000005.10:g.37182875G>A	gnomAD
rs1166315820	p.Glu1770Gln	missense variant	-	NC_000005.10:g.37182873C>G	TOPMed
RCV000304154	p.Tyr1771His	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37182870A>G	ClinVar
rs748355456	p.Tyr1771His	missense variant	-	NC_000005.10:g.37182870A>G	ExAC,TOPMed,gnomAD
rs79377186	p.Ser1772Gly	missense variant	-	NC_000005.10:g.37182867T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000406006	p.Ser1772Gly	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37182867T>C	ClinVar
rs374839549	p.Pro1773Ala	missense variant	-	NC_000005.10:g.37182864G>C	ESP
rs996420456	p.Ile1775Asn	missense variant	-	NC_000005.10:g.37182857A>T	TOPMed,gnomAD
rs757385488	p.Arg1776His	missense variant	-	NC_000005.10:g.37182854C>T	ExAC,TOPMed,gnomAD
rs373075185	p.Arg1776Cys	missense variant	-	NC_000005.10:g.37182855G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000343798	p.Val1777Ile	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37182852C>T	ClinVar
rs142777778	p.Val1777Ile	missense variant	-	NC_000005.10:g.37182852C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142777778	p.Val1777Leu	missense variant	-	NC_000005.10:g.37182852C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs758218745	p.Thr1781Ala	missense variant	-	NC_000005.10:g.37182840T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ala1782Thr	missense variant	-	NC_000005.10:g.37182837C>T	NCI-TCGA
NCI-TCGA novel	p.Ala1782Pro	missense variant	-	NC_000005.10:g.37182837C>G	NCI-TCGA
NCI-TCGA novel	p.Ala1782Gly	missense variant	-	NC_000005.10:g.37182836G>C	NCI-TCGA
RCV000611750	p.Ala1783Asp	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37182833G>T	ClinVar
rs200444162	p.Ala1783Asp	missense variant	-	NC_000005.10:g.37182833G>T	ESP,ExAC,TOPMed,gnomAD
rs753598424	p.Ser1787Pro	missense variant	-	NC_000005.10:g.37182822A>G	ExAC
rs1225726550	p.Leu1788Ser	missense variant	-	NC_000005.10:g.37182818A>G	gnomAD
rs1288967589	p.Trp1789Ter	stop gained	-	NC_000005.10:g.37182815C>T	TOPMed
rs77286946	p.Leu1791Phe	missense variant	-	NC_000005.10:g.37182808C>A	ExAC,TOPMed
rs77286946	p.Leu1791Phe	missense variant	-	NC_000005.10:g.37182808C>G	ExAC,TOPMed
COSM3429423	p.Glu1792Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37182807C>T	NCI-TCGA Cosmic
rs374631246	p.Glu1792Asp	missense variant	-	NC_000005.10:g.37182805T>G	ESP,ExAC,TOPMed,gnomAD
rs1234365745	p.Gln1793Glu	missense variant	-	NC_000005.10:g.37182804G>C	gnomAD
RCV000614286	p.Pro1794Leu	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37182800G>A	ClinVar
rs75589774	p.Pro1794Leu	missense variant	-	NC_000005.10:g.37182800G>A	UniProt,dbSNP
VAR_068166	p.Pro1794Leu	missense variant	-	NC_000005.10:g.37182800G>A	UniProt
rs75589774	p.Pro1794Leu	missense variant	-	NC_000005.10:g.37182800G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000145368	p.Pro1794Leu	missense variant	-	NC_000005.10:g.37182800G>A	ClinVar
rs776036175	p.Tyr1795Cys	missense variant	-	NC_000005.10:g.37182797T>C	ExAC,gnomAD
rs1371238390	p.Thr1798Lys	missense variant	-	NC_000005.10:g.37182788G>T	gnomAD
RCV000523595	p.Tyr1799Ter	nonsense	-	NC_000005.10:g.37182784A>C	ClinVar
rs1307424292	p.Tyr1799His	missense variant	-	NC_000005.10:g.37182786A>G	TOPMed,gnomAD
rs1427918719	p.Tyr1799Cys	missense variant	-	NC_000005.10:g.37182785T>C	gnomAD
rs1307424292	p.Tyr1799Asn	missense variant	-	NC_000005.10:g.37182786A>T	TOPMed,gnomAD
rs759881074	p.Tyr1799Ter	stop gained	-	NC_000005.10:g.37182784A>T	ExAC,TOPMed,gnomAD
rs759881074	p.Tyr1799Ter	stop gained	-	NC_000005.10:g.37182784A>C	ExAC,TOPMed,gnomAD
rs1375771598	p.Ala1801Glu	missense variant	-	NC_000005.10:g.37182779G>T	gnomAD
rs547946112	p.Ala1801Thr	missense variant	-	NC_000005.10:g.37182780C>T	gnomAD
COSM4746995	p.Asn1803MetPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.37182773T>-	NCI-TCGA Cosmic
rs181490574	p.Ala1804Ser	missense variant	-	NC_000005.10:g.37182771C>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000778766	p.Ala1804Ter	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37182764_37182768del	ClinVar
NCI-TCGA novel	p.Ala1804Val	missense variant	-	NC_000005.10:g.37182770G>A	NCI-TCGA
rs907377828	p.Ile1806Ser	missense variant	-	NC_000005.10:g.37182764A>C	gnomAD
rs1472917516	p.Ile1806Val	missense variant	-	NC_000005.10:g.37182765T>C	gnomAD
rs563861036	p.Val1809Leu	missense variant	-	NC_000005.10:g.37181002C>A	1000Genomes,ExAC,gnomAD
rs545562838	p.Arg1812Leu	missense variant	-	NC_000005.10:g.37180992C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs376821475	p.Arg1812Ser	missense variant	-	NC_000005.10:g.37180993G>T	ESP,TOPMed
rs376821475	p.Arg1812Cys	missense variant	-	NC_000005.10:g.37180993G>A	ESP,TOPMed
rs545562838	p.Arg1812His	missense variant	-	NC_000005.10:g.37180992C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs771172998	p.Asp1813Gly	missense variant	-	NC_000005.10:g.37180989T>C	ExAC
RCV000646710	p.Thr1814Ala	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37180987T>C	ClinVar
rs760844546	p.Thr1814Ala	missense variant	-	NC_000005.10:g.37180987T>C	ExAC,gnomAD
COSM1437350	p.Gly1815Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37180984C>A	NCI-TCGA Cosmic
rs1009339676	p.Gly1815Arg	missense variant	-	NC_000005.10:g.37180984C>G	TOPMed
rs138639220	p.Cys1816Tyr	missense variant	-	NC_000005.10:g.37180980C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772099372	p.Gln1817Glu	missense variant	-	NC_000005.10:g.37180978G>C	ExAC,gnomAD
rs1381413361	p.Pro1820Ser	missense variant	-	NC_000005.10:g.37180969G>A	gnomAD
rs748251473	p.Asn1821Ser	missense variant	-	NC_000005.10:g.37180965T>C	ExAC,TOPMed,gnomAD
rs1447400188	p.Ile1822Val	missense variant	-	NC_000005.10:g.37180963T>C	gnomAD
NCI-TCGA novel	p.Glu1823Ter	stop gained	-	NC_000005.10:g.37180960C>A	NCI-TCGA
rs559787397	p.Arg1824Lys	missense variant	-	NC_000005.10:g.37180956C>T	1000Genomes,ExAC,gnomAD
rs150153090	p.Glu1825Asp	missense variant	-	NC_000005.10:g.37180952C>G	ESP,ExAC,TOPMed,gnomAD
rs1457541096	p.Ser1826Gly	missense variant	-	NC_000005.10:g.37180951T>C	gnomAD
rs749120835	p.Lys1827Arg	missense variant	-	NC_000005.10:g.37180947T>C	ExAC,gnomAD
rs755908877	p.Gly1832Cys	missense variant	-	NC_000005.10:g.37180933C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val1834Phe	missense variant	-	NC_000005.10:g.37180927C>A	NCI-TCGA
NCI-TCGA novel	p.Ala1835Thr	missense variant	-	NC_000005.10:g.37180924C>T	NCI-TCGA
COSM3994302	p.Val1836Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37180921C>T	NCI-TCGA Cosmic
rs1202045583	p.Ala1837Pro	missense variant	-	NC_000005.10:g.37180918C>G	TOPMed
NCI-TCGA novel	p.Ala1837Thr	missense variant	-	NC_000005.10:g.37180918C>T	NCI-TCGA
RCV000145370	p.Thr1838Ala	missense variant	-	NC_000005.10:g.37180915T>C	ClinVar
RCV000528336	p.Thr1838Ala	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37180915T>C	ClinVar
rs76245173	p.Thr1838Ala	missense variant	-	NC_000005.10:g.37180915T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3615991	p.Pro1839Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37180911G>A	NCI-TCGA Cosmic
rs888749024	p.Pro1839Ser	missense variant	-	NC_000005.10:g.37180912G>A	TOPMed
rs1471535536	p.Gly1841Glu	missense variant	-	NC_000005.10:g.37180905C>T	gnomAD
NCI-TCGA novel	p.Glu1843Lys	missense variant	-	NC_000005.10:g.37180900C>T	NCI-TCGA
rs765373927	p.Glu1844Lys	missense variant	-	NC_000005.10:g.37180897C>T	ExAC,TOPMed,gnomAD
rs184096663	p.Glu1844Asp	missense variant	-	NC_000005.10:g.37180895T>A	1000Genomes,ExAC,gnomAD
COSM3828029	p.Arg1845Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37180893C>T	NCI-TCGA Cosmic
rs555768951	p.Arg1845Gly	missense variant	-	NC_000005.10:g.37180894T>C	1000Genomes
rs1247860468	p.Arg1845Ile	missense variant	-	NC_000005.10:g.37180893C>A	gnomAD
rs1323962263	p.Gly1847Ser	missense variant	-	NC_000005.10:g.37180888C>T	gnomAD
COSM6103727	p.Gln1848Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.37180885G>A	NCI-TCGA Cosmic
rs200795256	p.Ser1851Pro	missense variant	-	NC_000005.10:g.37180876A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs191940879	p.Cys1852Gly	missense variant	-	NC_000005.10:g.37180873A>C	1000Genomes,ExAC,gnomAD
rs766699868	p.Gln1853Lys	missense variant	-	NC_000005.10:g.37180870G>T	ExAC,TOPMed,gnomAD
rs766699868	p.Gln1853Ter	stop gained	-	NC_000005.10:g.37180870G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile1855Met	missense variant	-	NC_000005.10:g.37180862G>C	NCI-TCGA
rs1272777983	p.Pro1860Thr	missense variant	-	NC_000005.10:g.37180176G>T	TOPMed,gnomAD
rs368751039	p.Pro1860Leu	missense variant	-	NC_000005.10:g.37180175G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM265671	p.Thr1861Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37180173T>C	NCI-TCGA Cosmic
rs199524299	p.Asn1865His	missense variant	-	NC_000005.10:g.37180161T>G	ESP,ExAC,TOPMed,gnomAD
RCV000386853	p.Asn1865His	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37180161T>G	ClinVar
RCV000424907	p.Asn1865His	missense variant	-	NC_000005.10:g.37180161T>G	ClinVar
NCI-TCGA novel	p.Asn1865LysPheSerTerUnk	frameshift	-	NC_000005.10:g.37180159_37180160insT	NCI-TCGA
NCI-TCGA novel	p.Asn1865IlePheSerTerUnk	frameshift	-	NC_000005.10:g.37180160T>-	NCI-TCGA
rs1426379215	p.Asp1867Asn	missense variant	-	NC_000005.10:g.37180155C>T	gnomAD
rs963676463	p.Asp1867Gly	missense variant	-	NC_000005.10:g.37180154T>C	TOPMed,gnomAD
rs976028353	p.Asp1867Glu	missense variant	-	NC_000005.10:g.37180153A>T	gnomAD
rs762090006	p.Ile1868Thr	missense variant	-	NC_000005.10:g.37180151A>G	ExAC,TOPMed,gnomAD
rs762090006	p.Ile1868Lys	missense variant	-	NC_000005.10:g.37180151A>T	ExAC,TOPMed,gnomAD
rs774687609	p.Ile1868Met	missense variant	-	NC_000005.10:g.37180150T>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu1870Ter	stop gained	-	NC_000005.10:g.37180146C>A	NCI-TCGA
rs765842074	p.Asn1872Ser	missense variant	-	NC_000005.10:g.37180139T>C	ExAC,TOPMed,gnomAD
rs763113716	p.Asp1873Gly	missense variant	-	NC_000005.10:g.37180136T>C	ExAC,gnomAD
rs1312543279	p.Asp1874Gly	missense variant	-	NC_000005.10:g.37180133T>C	gnomAD
NCI-TCGA novel	p.Asp1874Asn	missense variant	-	NC_000005.10:g.37180134C>T	NCI-TCGA
rs769707371	p.Ile1875Val	missense variant	-	NC_000005.10:g.37180131T>C	ExAC,gnomAD
rs745671752	p.Ile1878Thr	missense variant	-	NC_000005.10:g.37180121A>G	ExAC,gnomAD
rs745671752	p.Ile1878Ser	missense variant	-	NC_000005.10:g.37180121A>C	ExAC,gnomAD
rs776446341	p.His1880Arg	missense variant	-	NC_000005.10:g.37180115T>C	ExAC,TOPMed,gnomAD
rs1014600963	p.His1880Tyr	missense variant	-	NC_000005.10:g.37180116G>A	TOPMed
rs770680472	p.Asn1881Ser	missense variant	-	NC_000005.10:g.37180112T>C	ExAC,gnomAD
rs1269176064	p.Thr1882Ser	missense variant	-	NC_000005.10:g.37180109G>C	TOPMed
COSM1067788	p.Lys1883Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37180106T>G	NCI-TCGA Cosmic
rs373865796	p.Lys1884Thr	missense variant	-	NC_000005.10:g.37180103T>G	ESP,ExAC,TOPMed,gnomAD
rs373865796	p.Lys1884Arg	missense variant	-	NC_000005.10:g.37180103T>C	ESP,ExAC,TOPMed,gnomAD
RCV000419345	p.Lys1884Thr	missense variant	-	NC_000005.10:g.37180103T>G	ClinVar
rs757968306	p.Glu1885Ter	stop gained	-	NC_000005.10:g.37180101C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu1885AsnPheSerTerUnk	frameshift	-	NC_000005.10:g.37180102T>-	NCI-TCGA
rs747586143	p.Ile1887Val	missense variant	-	NC_000005.10:g.37180095T>C	ExAC,gnomAD
rs780435133	p.Asp1888Gly	missense variant	-	NC_000005.10:g.37180091T>C	ExAC,TOPMed,gnomAD
rs1245054488	p.Ile1889Thr	missense variant	-	NC_000005.10:g.37180088A>G	TOPMed
RCV000513749	p.Ile1889Ter	frameshift	-	NC_000005.10:g.37180086_37180087del	ClinVar
rs1183585651	p.Glu1891Asp	missense variant	-	NC_000005.10:g.37180081C>A	gnomAD
rs750789109	p.Glu1891Lys	missense variant	-	NC_000005.10:g.37180083C>T	ExAC,gnomAD
rs767967950	p.Glu1895Gln	missense variant	-	NC_000005.10:g.37180071C>G	ExAC,TOPMed,gnomAD
COSM1328815	p.Val1896Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37180067A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu1897Gln	missense variant	-	NC_000005.10:g.37180065C>G	NCI-TCGA
rs751889936	p.Ala1898Thr	missense variant	-	NC_000005.10:g.37180062C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu1901Gln	missense variant	-	NC_000005.10:g.37180053C>G	NCI-TCGA
rs763129992	p.Glu1902Lys	missense variant	-	NC_000005.10:g.37180050C>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu1902AspPheSerTerUnkUnk	frameshift	-	NC_000005.10:g.37180048_37180049insA	NCI-TCGA
rs752765729	p.Met1904Ile	missense variant	-	NC_000005.10:g.37180042C>A	ExAC,gnomAD
rs765117763	p.His1907Asp	missense variant	-	NC_000005.10:g.37180035G>C	ExAC,gnomAD
rs1314342926	p.Ile1908Val	missense variant	-	NC_000005.10:g.37180032T>C	gnomAD
rs759558910	p.Asp1910Ala	missense variant	-	NC_000005.10:g.37180025T>G	ExAC,TOPMed,gnomAD
RCV000599682	p.Tyr1911Ter	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37180021A>C	ClinVar
rs776408370	p.Tyr1911Ser	missense variant	-	NC_000005.10:g.37180022T>G	ExAC,TOPMed,gnomAD
rs770770257	p.Tyr1911Ter	stop gained	-	NC_000005.10:g.37180021A>C	ExAC,TOPMed,gnomAD
rs1450956266	p.Glu1912Lys	missense variant	-	NC_000005.10:g.37180020C>T	gnomAD
rs536851859	p.Glu1912Asp	missense variant	-	NC_000005.10:g.37180018T>G	gnomAD
rs1391007663	p.Glu1913Asp	missense variant	-	NC_000005.10:g.37179442T>G	gnomAD
rs753876890	p.Ile1915Thr	missense variant	-	NC_000005.10:g.37179437A>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu1917Ter	stop gained	-	NC_000005.10:g.37179432C>A	NCI-TCGA
COSM3920002	p.Ser1918Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37179428G>T	NCI-TCGA Cosmic
rs766234915	p.Val1919Phe	missense variant	-	NC_000005.10:g.37179426C>A	ExAC,gnomAD
rs760471892	p.Gly1920Glu	missense variant	-	NC_000005.10:g.37179422C>T	ExAC,gnomAD
rs1288877583	p.Gly1921Asp	missense variant	-	NC_000005.10:g.37179419C>T	gnomAD
rs772939079	p.Phe1922Leu	missense variant	-	NC_000005.10:g.37179415G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1925Ser	missense variant	-	NC_000005.10:g.37179408G>A	NCI-TCGA
rs1227202519	p.Ser1926Thr	missense variant	-	NC_000005.10:g.37179404C>G	gnomAD
rs773856220	p.Ser1926Gly	missense variant	-	NC_000005.10:g.37179405T>C	ExAC,gnomAD
rs773856220	p.Ser1926Arg	missense variant	-	NC_000005.10:g.37179405T>G	ExAC,gnomAD
rs190242054	p.Ala1928Val	missense variant	-	NC_000005.10:g.37179398G>A	1000Genomes,ExAC,gnomAD
rs190242054	p.Ala1928Gly	missense variant	-	NC_000005.10:g.37179398G>C	1000Genomes,ExAC,gnomAD
rs1273330212	p.Ile1929Val	missense variant	-	NC_000005.10:g.37179396T>C	gnomAD
rs1304077388	p.Met1932Lys	missense variant	-	NC_000005.10:g.37179386A>T	TOPMed,gnomAD
rs1304077388	p.Met1932Arg	missense variant	-	NC_000005.10:g.37179386A>C	TOPMed,gnomAD
rs1387791746	p.Thr1933Ala	missense variant	-	NC_000005.10:g.37179384T>C	gnomAD
rs1225604508	p.Gln1937Ter	stop gained	-	NC_000005.10:g.37179372G>A	TOPMed,gnomAD
COSM3855073	p.Leu1938Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37179369A>C	NCI-TCGA Cosmic
rs1427163113	p.Glu1941Asp	missense variant	-	NC_000005.10:g.37177698C>A	gnomAD
NCI-TCGA novel	p.Thr1943Ile	missense variant	-	NC_000005.10:g.37177693G>A	NCI-TCGA
rs761502897	p.Glu1945Ter	stop gained	-	NC_000005.10:g.37177688C>A	ExAC,gnomAD
rs774121501	p.Gln1947Arg	missense variant	-	NC_000005.10:g.37177681T>C	ExAC,gnomAD
rs1443849694	p.Glu1951Gly	missense variant	-	NC_000005.10:g.37177669T>C	gnomAD
rs1042774343	p.Glu1955Gln	missense variant	-	NC_000005.10:g.37177658C>G	TOPMed
rs1323231145	p.Thr1956Lys	missense variant	-	NC_000005.10:g.37177654G>T	gnomAD
rs373199163	p.Thr1956Ala	missense variant	-	NC_000005.10:g.37177655T>C	ESP,ExAC,TOPMed,gnomAD
rs1230715850	p.Glu1959Gly	missense variant	-	NC_000005.10:g.37177645T>C	gnomAD
rs370359867	p.Lys1961Asn	missense variant	-	NC_000005.10:g.37177638T>G	ESP,ExAC,TOPMed,gnomAD
rs768454790	p.Ser1962Trp	missense variant	-	NC_000005.10:g.37177636G>C	ExAC,TOPMed,gnomAD
rs768454790	p.Ser1962Leu	missense variant	-	NC_000005.10:g.37177636G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1962IlePheSerTerUnk	frameshift	-	NC_000005.10:g.37177637_37177638insT	NCI-TCGA
rs1472642121	p.Lys1966Glu	missense variant	-	NC_000005.10:g.37177625T>C	gnomAD
rs1342538441	p.Lys1966Asn	missense variant	-	NC_000005.10:g.37177623T>G	gnomAD
rs538462107	p.Gly1967Ser	missense variant	-	NC_000005.10:g.37177622C>T	1000Genomes,ExAC,gnomAD
rs138049045	p.Gly1967Asp	missense variant	-	NC_000005.10:g.37177621C>T	ESP,ExAC,TOPMed,gnomAD
rs138049045	p.Gly1967Ala	missense variant	-	NC_000005.10:g.37177621C>G	ESP,ExAC,TOPMed,gnomAD
rs756257858	p.Met1968Val	missense variant	-	NC_000005.10:g.37175985T>C	ExAC,TOPMed,gnomAD
rs1391071475	p.Glu1970Lys	missense variant	-	NC_000005.10:g.37175979C>T	TOPMed
rs745881887	p.Gly1976Arg	missense variant	-	NC_000005.10:g.37175961C>T	ExAC,TOPMed,gnomAD
rs757095260	p.His1977Gln	missense variant	-	NC_000005.10:g.37175956A>C	ExAC,TOPMed,gnomAD
rs751402710	p.Thr1978Ile	missense variant	-	NC_000005.10:g.37175954G>A	ExAC,gnomAD
rs1453413994	p.Thr1978Ala	missense variant	-	NC_000005.10:g.37175955T>C	gnomAD
rs777476825	p.Thr1979Ile	missense variant	-	NC_000005.10:g.37175951G>A	ExAC,TOPMed,gnomAD
rs758252905	p.Pro1980Ser	missense variant	-	NC_000005.10:g.37175949G>A	ExAC,gnomAD
rs752464418	p.Pro1980Leu	missense variant	-	NC_000005.10:g.37175948G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln1981Ter	stop gained	-	NC_000005.10:g.37175946G>A	NCI-TCGA
rs1268361160	p.Met1983Val	missense variant	-	NC_000005.10:g.37175940T>C	TOPMed,gnomAD
rs1268361160	p.Met1983Leu	missense variant	-	NC_000005.10:g.37175940T>A	TOPMed,gnomAD
rs764916230	p.Met1983Ile	missense variant	-	NC_000005.10:g.37175938C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gln1984Ter	stop gained	-	NC_000005.10:g.37175937G>A	NCI-TCGA
rs753346671	p.Asp1986His	missense variant	-	NC_000005.10:g.37175931C>G	ExAC,TOPMed,gnomAD
rs762263576	p.Asp1986Val	missense variant	-	NC_000005.10:g.37175930T>A	ExAC,gnomAD
rs762263576	p.Asp1986Gly	missense variant	-	NC_000005.10:g.37175930T>C	ExAC,gnomAD
rs141126113	p.Thr1987Arg	missense variant	-	NC_000005.10:g.37175927G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141126113	p.Thr1987Met	missense variant	-	NC_000005.10:g.37175927G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1185288449	p.Ser1988Asn	missense variant	-	NC_000005.10:g.37175924C>T	gnomAD
rs775696760	p.Ser1989Leu	missense variant	-	NC_000005.10:g.37175921G>A	ExAC,gnomAD
rs769946295	p.Glu1990Lys	missense variant	-	NC_000005.10:g.37175919C>T	ExAC,gnomAD
rs1198846058	p.Ile1991Met	missense variant	-	NC_000005.10:g.37175914A>C	gnomAD
rs759795293	p.Gln1995His	missense variant	-	NC_000005.10:g.37173941C>G	ExAC,gnomAD
NCI-TCGA novel	p.Gln1995His	missense variant	-	NC_000005.10:g.37173941C>A	NCI-TCGA
NCI-TCGA novel	p.Gln1995LeuPheSerTerUnk	frameshift	-	NC_000005.10:g.37173942_37173943insACACATA	NCI-TCGA
rs1237016436	p.Ile1996Leu	missense variant	-	NC_000005.10:g.37173940T>G	TOPMed
rs1278588680	p.Ile1996Thr	missense variant	-	NC_000005.10:g.37173939A>G	TOPMed
rs747044097	p.Tyr1999Asn	missense variant	-	NC_000005.10:g.37173931A>T	ExAC,TOPMed,gnomAD
rs1445358492	p.Ser2003Phe	missense variant	-	NC_000005.10:g.37173918G>A	TOPMed
rs747983398	p.Ile2010Met	missense variant	-	NC_000005.10:g.37173896T>C	ExAC,TOPMed,gnomAD
rs1175326205	p.Ser2011Leu	missense variant	-	NC_000005.10:g.37173894G>A	TOPMed
rs984208088	p.Asn2012Asp	missense variant	-	NC_000005.10:g.37173892T>C	gnomAD
rs545125265	p.Asn2015Ser	missense variant	-	NC_000005.10:g.37173882T>C	1000Genomes,ExAC,TOPMed,gnomAD
COSM3855071	p.Gln2019His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37173869T>G	NCI-TCGA Cosmic
rs1159990425	p.Gln2019Ter	stop gained	-	NC_000005.10:g.37173871G>A	gnomAD
rs748954020	p.Pro2020Gln	missense variant	-	NC_000005.10:g.37173867G>T	ExAC,gnomAD
rs928348123	p.Pro2021Leu	missense variant	-	NC_000005.10:g.37173864G>A	TOPMed
rs779755677	p.Ala2022Pro	missense variant	-	NC_000005.10:g.37173862C>G	ExAC,TOPMed,gnomAD
rs1461613577	p.Pro2023Leu	missense variant	-	NC_000005.10:g.37173858G>A	gnomAD
rs1242233296	p.Thr2024Ala	missense variant	-	NC_000005.10:g.37173856T>C	gnomAD
rs1372408283	p.Pro2025Thr	missense variant	-	NC_000005.10:g.37173853G>T	TOPMed
NCI-TCGA novel	p.Gln2026Ter	stop gained	-	NC_000005.10:g.37173850G>A	NCI-TCGA
rs1237751485	p.Gln2029His	missense variant	-	NC_000005.10:g.37173839C>G	gnomAD
COSM1067784	p.Arg2030Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37173837C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg2030Lys	missense variant	-	NC_000005.10:g.37173837C>T	NCI-TCGA
COSM3615989	p.Glu2032Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37173832C>T	NCI-TCGA Cosmic
rs764609136	p.Glu2032Asp	missense variant	-	NC_000005.10:g.37173830T>G	ExAC,TOPMed,gnomAD
RCV000356938	p.Phe2033Cys	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37173828A>C	ClinVar
RCV000145376	p.Phe2033Cys	missense variant	-	NC_000005.10:g.37173828A>C	ClinVar
rs10076911	p.Phe2033Cys	missense variant	-	NC_000005.10:g.37173828A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000602270	p.Phe2033Cys	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37173828A>C	ClinVar
rs1228475615	p.Thr2034Ala	missense variant	-	NC_000005.10:g.37173826T>C	gnomAD
rs145854343	p.Thr2034Met	missense variant	-	NC_000005.10:g.37173825G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM1067782	p.Ala2035Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37173822G>T	NCI-TCGA Cosmic
rs759938964	p.Gln2036His	missense variant	-	NC_000005.10:g.37173818C>G	ExAC,TOPMed,gnomAD
rs1262787542	p.Asp2039Val	missense variant	-	NC_000005.10:g.37173810T>A	TOPMed
rs1348795271	p.Ser2041Leu	missense variant	-	NC_000005.10:g.37173804G>A	TOPMed
rs766565364	p.Glu2042Ala	missense variant	-	NC_000005.10:g.37173801T>G	ExAC,gnomAD
RCV000302069	p.Glu2042Ala	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37173801T>G	ClinVar
NCI-TCGA novel	p.Glu2042Ter	stop gained	-	NC_000005.10:g.37173802C>A	NCI-TCGA
rs760692002	p.Ser2043Pro	missense variant	-	NC_000005.10:g.37173799A>G	ExAC,gnomAD
rs773299420	p.Val2044Ile	missense variant	-	NC_000005.10:g.37173796C>T	ExAC,TOPMed,gnomAD
rs773299420	p.Val2044Leu	missense variant	-	NC_000005.10:g.37173796C>G	ExAC,TOPMed,gnomAD
rs1469841680	p.Gln2049Arg	missense variant	-	NC_000005.10:g.37173780T>C	TOPMed
NCI-TCGA novel	p.Glu2051LysPheSerTerUnk	frameshift	-	NC_000005.10:g.37173775C>-	NCI-TCGA
rs1451062658	p.Met2052Ile	missense variant	-	NC_000005.10:g.37173770C>T	gnomAD
NCI-TCGA novel	p.Met2052Ile	missense variant	-	NC_000005.10:g.37173770C>A	NCI-TCGA
RCV000706312	p.Phe2053Tyr	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37173768A>T	ClinVar
RCV000417648	p.Phe2053Tyr	missense variant	-	NC_000005.10:g.37173768A>T	ClinVar
rs189493985	p.Phe2053Tyr	missense variant	-	NC_000005.10:g.37173768A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs748142967	p.Val2056Ile	missense variant	-	NC_000005.10:g.37173760C>T	ExAC,TOPMed,gnomAD
RCV000785934	p.Leu2058Val	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37170331G>C	ClinVar
rs576883816	p.Leu2058Val	missense variant	-	NC_000005.10:g.37170331G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs779417324	p.Gln2060His	missense variant	-	NC_000005.10:g.37170323C>A	ExAC,gnomAD
NCI-TCGA novel	p.Ile2061Asn	missense variant	-	NC_000005.10:g.37170321A>T	NCI-TCGA
rs755471609	p.Asn2062Lys	missense variant	-	NC_000005.10:g.37170317G>T	ExAC,gnomAD
rs1227635878	p.Met2064Val	missense variant	-	NC_000005.10:g.37170313T>C	TOPMed
rs780513159	p.Ser2065Arg	missense variant	-	NC_000005.10:g.37170308G>C	ExAC,TOPMed,gnomAD
rs754264613	p.Ser2065Asn	missense variant	-	NC_000005.10:g.37170309C>T	ExAC
NCI-TCGA novel	p.Leu2066Pro	missense variant	-	NC_000005.10:g.37170306A>G	NCI-TCGA
NCI-TCGA novel	p.Leu2066Arg	missense variant	-	NC_000005.10:g.37170306A>C	NCI-TCGA
rs756418851	p.Met2067Arg	missense variant	-	NC_000005.10:g.37170303A>C	ExAC,TOPMed,gnomAD
rs1249354445	p.Phe2074Leu	missense variant	-	NC_000005.10:g.37170281A>T	gnomAD
rs1326109813	p.Ala2075Asp	missense variant	-	NC_000005.10:g.37170279G>T	gnomAD
rs1462976136	p.Ala2075Pro	missense variant	-	NC_000005.10:g.37170280C>G	TOPMed
rs767783400	p.Asn2076His	missense variant	-	NC_000005.10:g.37170277T>G	ExAC,TOPMed,gnomAD
rs767783400	p.Asn2076Asp	missense variant	-	NC_000005.10:g.37170277T>C	ExAC,TOPMed,gnomAD
rs1182101030	p.Asn2076Thr	missense variant	-	NC_000005.10:g.37170276T>G	TOPMed
rs762000335	p.Leu2077Phe	missense variant	-	NC_000005.10:g.37170274G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln2081Arg	missense variant	-	NC_000005.10:g.37170261T>C	NCI-TCGA
rs751645035	p.Gln2081His	missense variant	-	NC_000005.10:g.37170260T>A	ExAC,gnomAD
rs763974450	p.Gln2082His	missense variant	-	NC_000005.10:g.37170257T>G	ExAC,TOPMed,gnomAD
rs1224595164	p.Gln2082Arg	missense variant	-	NC_000005.10:g.37170258T>C	gnomAD
rs1462238477	p.Leu2083Phe	missense variant	-	NC_000005.10:g.37170256G>A	gnomAD
rs140110975	p.Leu2083Pro	missense variant	-	NC_000005.10:g.37170255A>G	ESP,ExAC,TOPMed
rs1026851353	p.Ser2087Thr	missense variant	-	NC_000005.10:g.37170244A>T	TOPMed
rs1444441843	p.Gln2088Leu	missense variant	-	NC_000005.10:g.37170240T>A	gnomAD
rs1336621934	p.Gln2088His	missense variant	-	NC_000005.10:g.37170239C>G	gnomAD
rs1328390144	p.Ser2089Cys	missense variant	-	NC_000005.10:g.37170237G>C	TOPMed,gnomAD
RCV000690354	p.Val2090Met	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37170235C>T	ClinVar
rs769691069	p.Val2090Gly	missense variant	-	NC_000005.10:g.37170234A>C	ExAC,gnomAD
rs759257853	p.His2091Arg	missense variant	-	NC_000005.10:g.37170231T>C	ExAC,TOPMed,gnomAD
rs1337314570	p.His2091Tyr	missense variant	-	NC_000005.10:g.37170232G>A	TOPMed,gnomAD
rs558551880	p.Leu2092Ser	missense variant	-	NC_000005.10:g.37170228A>G	1000Genomes,ExAC,gnomAD
rs915755841	p.Leu2092Val	missense variant	-	NC_000005.10:g.37170229A>C	TOPMed
rs938631341	p.Leu2092Phe	missense variant	-	NC_000005.10:g.37170227T>A	-
rs1362890612	p.Ser2095Gly	missense variant	-	NC_000005.10:g.37170220T>C	gnomAD
rs1382440073	p.Gln2096Arg	missense variant	-	NC_000005.10:g.37170216T>C	TOPMed
NCI-TCGA novel	p.Gln2096His	missense variant	-	NC_000005.10:g.37170215T>A	NCI-TCGA
NCI-TCGA novel	p.Ser2098Ter	stop gained	-	NC_000005.10:g.37170210G>C	NCI-TCGA
rs1226031728	p.Leu2100Gln	missense variant	-	NC_000005.10:g.37170204A>T	TOPMed
rs771457677	p.Arg2101Ile	missense variant	-	NC_000005.10:g.37170201C>A	ExAC,gnomAD
rs771457677	p.Arg2101Lys	missense variant	-	NC_000005.10:g.37170201C>T	ExAC,gnomAD
rs201739330	p.Arg2101Gly	missense variant	-	NC_000005.10:g.37170202T>C	TOPMed,gnomAD
rs1261785453	p.Gly2102Glu	missense variant	-	NC_000005.10:g.37170198C>T	gnomAD
rs749862200	p.Cys2103Trp	missense variant	-	NC_000005.10:g.37170194A>C	ExAC,gnomAD
rs144243923	p.Asp2105Gly	missense variant	-	NC_000005.10:g.37170189T>C	ESP,ExAC,TOPMed,gnomAD
rs750761495	p.Asp2108Gly	missense variant	-	NC_000005.10:g.37170180T>C	ExAC,gnomAD
rs756508465	p.Asp2108His	missense variant	-	NC_000005.10:g.37170181C>G	ExAC,TOPMed,gnomAD
rs764283549	p.Asn2110Lys	missense variant	-	NC_000005.10:g.37170173G>T	ExAC,TOPMed,gnomAD
rs139528477	p.Asn2110Asp	missense variant	-	NC_000005.10:g.37170175T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000521762	p.Asn2110Asp	missense variant	-	NC_000005.10:g.37170175T>C	ClinVar
NCI-TCGA novel	p.Lys2111Asn	missense variant	-	NC_000005.10:g.37170170T>G	NCI-TCGA
rs762929896	p.Leu2113Val	missense variant	-	NC_000005.10:g.37170166G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe2118Leu	missense variant	-	NC_000005.10:g.37170149A>C	NCI-TCGA
rs1400800881	p.Ile2119Val	missense variant	-	NC_000005.10:g.37170148T>C	gnomAD
NCI-TCGA novel	p.Ile2119TyrPheSerTerUnk	frameshift	-	NC_000005.10:g.37170148_37170149insA	NCI-TCGA
rs150835516	p.Lys2120Thr	missense variant	-	NC_000005.10:g.37170144T>G	ESP,ExAC,TOPMed,gnomAD
rs1428034845	p.Lys2120Glu	missense variant	-	NC_000005.10:g.37170145T>C	TOPMed
rs759347586	p.Gln2122Glu	missense variant	-	NC_000005.10:g.37170139G>C	ExAC,TOPMed,gnomAD
rs776370347	p.Gln2122Leu	missense variant	-	NC_000005.10:g.37170138T>A	ExAC,TOPMed,gnomAD
rs759347586	p.Gln2122Ter	stop gained	-	NC_000005.10:g.37170139G>A	ExAC,TOPMed,gnomAD
rs1358431040	p.Ser2123Pro	missense variant	-	NC_000005.10:g.37170136A>G	TOPMed
rs770682379	p.Met2124Val	missense variant	-	NC_000005.10:g.37170133T>C	ExAC,TOPMed,gnomAD
rs1476794268	p.Met2124Ile	missense variant	-	NC_000005.10:g.37170131C>T	TOPMed,gnomAD
rs1241858107	p.Gly2125Arg	missense variant	-	NC_000005.10:g.37170130C>T	gnomAD
rs1359391591	p.Gly2125Glu	missense variant	-	NC_000005.10:g.37170129C>T	TOPMed
rs772723784	p.Ala2128Thr	missense variant	-	NC_000005.10:g.37170121C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala2128ValPheSerTerUnkUnk	frameshift	-	NC_000005.10:g.37170111_37170120GGCTCTCTGG>-	NCI-TCGA
rs1203452488	p.Glu2130Ala	missense variant	-	NC_000005.10:g.37170114T>G	gnomAD
rs771676867	p.Glu2130Asp	missense variant	-	NC_000005.10:g.37170113C>A	ExAC,gnomAD
rs141413425	p.Pro2131His	missense variant	-	NC_000005.10:g.37170111G>T	ESP,ExAC,TOPMed,gnomAD
rs1315959240	p.Pro2131Ser	missense variant	-	NC_000005.10:g.37170112G>A	gnomAD
rs148698826	p.Arg2132Pro	missense variant	-	NC_000005.10:g.37170108C>G	ESP,ExAC,TOPMed,gnomAD
rs148698826	p.Arg2132His	missense variant	-	NC_000005.10:g.37170108C>T	ESP,ExAC,TOPMed,gnomAD
rs578127199	p.Arg2132Cys	missense variant	-	NC_000005.10:g.37170109G>A	ExAC,TOPMed,gnomAD
rs148698826	p.Arg2132Leu	missense variant	-	NC_000005.10:g.37170108C>A	ESP,ExAC,TOPMed,gnomAD
rs1218344038	p.Lys2133Thr	missense variant	-	NC_000005.10:g.37170105T>G	TOPMed
rs781721269	p.Ser2135Arg	missense variant	-	NC_000005.10:g.37170098G>C	ExAC,gnomAD
RCV000024220	p.Pro2136Ter	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37170098del	ClinVar
rs757674599	p.Pro2136Ala	missense variant	-	NC_000005.10:g.37170097G>C	ExAC,TOPMed,gnomAD
rs958416569	p.His2137Leu	missense variant	-	NC_000005.10:g.37170093T>A	TOPMed,gnomAD
rs958416569	p.His2137Arg	missense variant	-	NC_000005.10:g.37170093T>C	TOPMed,gnomAD
rs1315673648	p.Cys2138Tyr	missense variant	-	NC_000005.10:g.37170090C>T	gnomAD
rs1017787313	p.His2139Arg	missense variant	-	NC_000005.10:g.37170087T>C	TOPMed,gnomAD
rs1017787313	p.His2139Leu	missense variant	-	NC_000005.10:g.37170087T>A	TOPMed,gnomAD
rs1365847311	p.Gly2141Arg	missense variant	-	NC_000005.10:g.37170082C>G	gnomAD
rs747294401	p.Gly2141Glu	missense variant	-	NC_000005.10:g.37170081C>T	ExAC,gnomAD
rs1383700248	p.Thr2142Ser	missense variant	-	NC_000005.10:g.37170078G>C	gnomAD
rs1424438060	p.Thr2142Ser	missense variant	-	NC_000005.10:g.37170079T>A	TOPMed,gnomAD
rs6884652	p.Ile2143Val	missense variant	-	NC_000005.10:g.37170076T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000145377	p.Ile2143Val	missense variant	-	NC_000005.10:g.37170076T>C	ClinVar
RCV000528573	p.Ile2143Val	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37170076T>C	ClinVar
NCI-TCGA novel	p.Pro2144Leu	missense variant	-	NC_000005.10:g.37170072G>A	NCI-TCGA
rs758516262	p.Gly2146Ser	missense variant	-	NC_000005.10:g.37170067C>T	ExAC,gnomAD
rs758516262	p.Gly2146Arg	missense variant	-	NC_000005.10:g.37170067C>G	ExAC,gnomAD
NCI-TCGA novel	p.Asn2148His	missense variant	-	NC_000005.10:g.37170061T>G	NCI-TCGA
rs150999024	p.Asn2148Ser	missense variant	-	NC_000005.10:g.37170060T>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000360437	p.Asn2148Ser	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37170060T>C	ClinVar
rs765250980	p.Ser2149Asn	missense variant	-	NC_000005.10:g.37170057C>T	ExAC,gnomAD
rs754947937	p.Thr2150Ser	missense variant	-	NC_000005.10:g.37170055T>A	ExAC,TOPMed,gnomAD
rs186460995	p.Asn2152Lys	missense variant	-	NC_000005.10:g.37170047G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1418732084	p.Gln2154Arg	missense variant	-	NC_000005.10:g.37170042T>C	TOPMed
rs1221947399	p.Gln2154Ter	stop gained	-	NC_000005.10:g.37170043G>A	gnomAD
rs189240573	p.Asn2155His	missense variant	-	NC_000005.10:g.37169561T>G	1000Genomes
rs750138893	p.Val2156Ile	missense variant	-	NC_000005.10:g.37169558C>T	ExAC,gnomAD
rs1375125673	p.Pro2157Ala	missense variant	-	NC_000005.10:g.37169555G>C	gnomAD
rs555821656	p.His2158Arg	missense variant	-	NC_000005.10:g.37169551T>C	gnomAD
rs761416940	p.Ser2160Asn	missense variant	-	NC_000005.10:g.37169545C>T	ExAC,gnomAD
rs751206376	p.Ile2161Val	missense variant	-	NC_000005.10:g.37169543T>C	ExAC,gnomAD
COSM3615985	p.Pro2162Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37169540G>A	NCI-TCGA Cosmic
rs1175850198	p.Pro2162Ala	missense variant	-	NC_000005.10:g.37169540G>C	gnomAD
rs763759036	p.Leu2163Phe	missense variant	-	NC_000005.10:g.37169535T>G	ExAC,TOPMed,gnomAD
rs763759036	p.Leu2163Phe	missense variant	-	NC_000005.10:g.37169535T>A	ExAC,TOPMed,gnomAD
rs1177944761	p.Cys2164Ter	stop gained	-	NC_000005.10:g.37169532A>T	gnomAD
rs762551958	p.Gly2168Asp	missense variant	-	NC_000005.10:g.37169521C>T	ExAC,gnomAD
rs1285169763	p.Gln2169Arg	missense variant	-	NC_000005.10:g.37169518T>C	TOPMed
rs1201263396	p.Pro2170Ser	missense variant	-	NC_000005.10:g.37169516G>A	gnomAD
RCV000513844	p.Arg2171Gln	missense variant	-	NC_000005.10:g.37169512C>T	ClinVar
rs377742483	p.Arg2171Gln	missense variant	-	NC_000005.10:g.37169512C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs371324866	p.Arg2171Trp	missense variant	-	NC_000005.10:g.37169513G>A	ESP,ExAC,TOPMed,gnomAD
rs773486378	p.Lys2172Arg	missense variant	-	NC_000005.10:g.37169509T>C	ExAC,TOPMed,gnomAD
rs1370715094	p.Ile2176Val	missense variant	-	NC_000005.10:g.37169498T>C	TOPMed,gnomAD
rs1370715094	p.Ile2176Phe	missense variant	-	NC_000005.10:g.37169498T>A	TOPMed,gnomAD
rs1284859177	p.Ser2178Leu	missense variant	-	NC_000005.10:g.37169491G>A	TOPMed
COSM1567698	p.Ser2179Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37169488G>T	NCI-TCGA Cosmic
rs1454889932	p.Ser2179Cys	missense variant	-	NC_000005.10:g.37169488G>C	TOPMed,gnomAD
rs1454889932	p.Ser2179Phe	missense variant	-	NC_000005.10:g.37169488G>A	TOPMed,gnomAD
rs138088605	p.Gln2180Glu	missense variant	-	NC_000005.10:g.37169486G>C	ESP,TOPMed,gnomAD
rs1346970955	p.Leu2182Phe	missense variant	-	NC_000005.10:g.37169478T>G	gnomAD
rs768725970	p.Pro2183Gln	missense variant	-	NC_000005.10:g.37169476G>T	ExAC,gnomAD
rs778922159	p.Ser2184Phe	missense variant	-	NC_000005.10:g.37169473G>A	ExAC,TOPMed,gnomAD
rs1378676464	p.Thr2185Ala	missense variant	-	NC_000005.10:g.37169471T>C	gnomAD
rs779991759	p.Ser2186Leu	missense variant	-	NC_000005.10:g.37169467G>A	ExAC,TOPMed,gnomAD
rs540226094	p.Tyr2188Cys	missense variant	-	NC_000005.10:g.37169461T>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Tyr2188CysPheSerTerUnkUnk	frameshift	-	NC_000005.10:g.37169425_37169461AAAAGGTAGAGGTGAGTATTTCCAGCAGGAGCTGGAT>-	NCI-TCGA
rs540226094	p.Tyr2188Ser	missense variant	-	NC_000005.10:g.37169461T>G	1000Genomes,ExAC,gnomAD
rs750344707	p.Pro2189Thr	missense variant	-	NC_000005.10:g.37169459G>T	ExAC,TOPMed,gnomAD
rs780898967	p.Pro2189Leu	missense variant	-	NC_000005.10:g.37169458G>A	ExAC
rs757065976	p.Pro2191Leu	missense variant	-	NC_000005.10:g.37169452G>A	ExAC,gnomAD
rs771245317	p.Ala2192Ser	missense variant	-	NC_000005.10:g.37169450C>A	gnomAD
rs1260872066	p.Asn2194Ser	missense variant	-	NC_000005.10:g.37169443T>C	gnomAD
rs374876051	p.Thr2195Ala	missense variant	-	NC_000005.10:g.37169441T>C	ESP,ExAC,TOPMed,gnomAD
RCV000497814	p.Thr2195Ala	missense variant	-	NC_000005.10:g.37169441T>C	ClinVar
rs1314812309	p.His2196Gln	missense variant	-	NC_000005.10:g.37169436G>C	gnomAD
rs1448749542	p.Tyr2198Asp	missense variant	-	NC_000005.10:g.37169432A>C	gnomAD
rs572837877	p.Leu2199Phe	missense variant	-	NC_000005.10:g.37169429G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1383914163	p.Leu2199Pro	missense variant	-	NC_000005.10:g.37169428A>G	TOPMed,gnomAD
rs762568486	p.Leu2200Phe	missense variant	-	NC_000005.10:g.37169424C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu2200Ser	missense variant	-	NC_000005.10:g.37169425A>G	NCI-TCGA
rs554608351	p.Ser2201Tyr	missense variant	-	NC_000005.10:g.37169422G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs764806035	p.Thr2202Pro	missense variant	-	NC_000005.10:g.37169420T>G	ExAC,TOPMed,gnomAD
rs764806035	p.Thr2202Ala	missense variant	-	NC_000005.10:g.37169420T>C	ExAC,TOPMed,gnomAD
rs773750881	p.Pro2203Thr	missense variant	-	NC_000005.10:g.37169417G>T	ExAC,TOPMed,gnomAD
rs773750881	p.Pro2203Ala	missense variant	-	NC_000005.10:g.37169417G>C	ExAC,TOPMed,gnomAD
rs542481988	p.Ser2204Phe	missense variant	-	NC_000005.10:g.37169413G>A	1000Genomes,TOPMed
rs944168145	p.Val2206Phe	missense variant	-	NC_000005.10:g.37169408C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Lys2208Asn	missense variant	-	NC_000005.10:g.37169400C>A	NCI-TCGA
rs1384307303	p.Ala2209Gly	missense variant	-	NC_000005.10:g.37169398G>C	gnomAD
rs762170195	p.Ala2209Thr	missense variant	-	NC_000005.10:g.37169399C>T	ExAC,TOPMed,gnomAD
rs1359733506	p.Arg2211Thr	missense variant	-	NC_000005.10:g.37169392C>G	TOPMed
rs575049365	p.Ile2213Asn	missense variant	-	NC_000005.10:g.37169386A>T	1000Genomes,gnomAD
rs575049365	p.Ile2213Thr	missense variant	-	NC_000005.10:g.37169386A>G	1000Genomes,gnomAD
rs556705113	p.His2215Arg	missense variant	-	NC_000005.10:g.37169380T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs749403465	p.Ala2216Gly	missense variant	-	NC_000005.10:g.37169377G>C	ExAC,TOPMed,gnomAD
rs1355023938	p.Thr2218Pro	missense variant	-	NC_000005.10:g.37169372T>G	TOPMed
rs780148979	p.Phe2219Cys	missense variant	-	NC_000005.10:g.37169368A>C	ExAC,gnomAD
rs769896553	p.Ser2220Asn	missense variant	-	NC_000005.10:g.37169365C>T	ExAC,gnomAD
rs1222685350	p.Gly2222Val	missense variant	-	NC_000005.10:g.37169359C>A	gnomAD
rs538086941	p.Asp2223Val	missense variant	-	NC_000005.10:g.37169356T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1196955944	p.Asp2223His	missense variant	-	NC_000005.10:g.37169357C>G	TOPMed
rs538086941	p.Asp2223Gly	missense variant	-	NC_000005.10:g.37169356T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs781188484	p.Gly2224Asp	missense variant	-	NC_000005.10:g.37169353C>T	ExAC,gnomAD
rs757011163	p.Pro2226Leu	missense variant	-	NC_000005.10:g.37169347G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro2226Ser	missense variant	-	NC_000005.10:g.37169348G>A	NCI-TCGA
rs1235149447	p.Gln2229Arg	missense variant	-	NC_000005.10:g.37169338T>C	gnomAD
NCI-TCGA novel	p.Lys2231Thr	missense variant	-	NC_000005.10:g.37169332T>G	NCI-TCGA
rs751344423	p.Ser2232Cys	missense variant	-	NC_000005.10:g.37169329G>C	ExAC,TOPMed,gnomAD
rs751344423	p.Ser2232Phe	missense variant	-	NC_000005.10:g.37169329G>A	ExAC,TOPMed,gnomAD
rs1381740657	p.Gln2234Ter	stop gained	-	NC_000005.10:g.37169324G>A	TOPMed,gnomAD
RCV000778765	p.Gln2234Ter	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37169324G>A	ClinVar
rs777592572	p.Phe2236Leu	missense variant	-	NC_000005.10:g.37169316G>T	ExAC,gnomAD
NCI-TCGA novel	p.Phe2236Ser	missense variant	-	NC_000005.10:g.37169317A>G	NCI-TCGA
rs1305188152	p.Gln2237Lys	missense variant	-	NC_000005.10:g.37169315G>T	gnomAD
rs1162872564	p.Pro2238Leu	missense variant	-	NC_000005.10:g.37169311G>A	TOPMed
rs1405851308	p.Leu2239Arg	missense variant	-	NC_000005.10:g.37169308A>C	gnomAD
rs1462556319	p.Leu2239Phe	missense variant	-	NC_000005.10:g.37169309G>A	TOPMed
rs1168462007	p.Phe2240Val	missense variant	-	NC_000005.10:g.37169306A>C	TOPMed
rs764708269	p.His2242Leu	missense variant	-	NC_000005.10:g.37169299T>A	ExAC,TOPMed,gnomAD
rs752372376	p.His2242Asn	missense variant	-	NC_000005.10:g.37169300G>T	ExAC,TOPMed,gnomAD
rs764708269	p.His2242Arg	missense variant	-	NC_000005.10:g.37169299T>C	ExAC,TOPMed,gnomAD
rs1169587356	p.Thr2243Lys	missense variant	-	NC_000005.10:g.37169296G>T	gnomAD
rs370156540	p.Gly2244Glu	missense variant	-	NC_000005.10:g.37169293C>T	ESP,ExAC,TOPMed,gnomAD
rs750897841	p.Ser2245Asn	missense variant	-	NC_000005.10:g.37169290C>T	ExAC,TOPMed,gnomAD
rs750897841	p.Ser2245Ile	missense variant	-	NC_000005.10:g.37169290C>A	ExAC,TOPMed,gnomAD
rs768009044	p.Ile2246Val	missense variant	-	NC_000005.10:g.37169288T>C	ExAC,gnomAD
rs142772503	p.Gln2248His	missense variant	-	NC_000005.10:g.37169280T>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe2251SerPheSerTerUnkUnk	frameshift	-	NC_000005.10:g.37169272A>-	NCI-TCGA
rs764413026	p.Pro2255Arg	missense variant	-	NC_000005.10:g.37169260G>C	ExAC,TOPMed,gnomAD
COSM3855065	p.Arg2258Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37169251C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu2259Lys	missense variant	-	NC_000005.10:g.37169249C>T	NCI-TCGA
rs775676138	p.Trp2261Leu	missense variant	-	NC_000005.10:g.37169242C>A	ExAC,gnomAD
rs769835888	p.Gly2262Arg	missense variant	-	NC_000005.10:g.37169240C>T	ExAC,TOPMed,gnomAD
rs776449281	p.Ser2266Phe	missense variant	-	NC_000005.10:g.37169227G>A	ExAC,TOPMed,gnomAD
rs1252505731	p.Pro2269Ser	missense variant	-	NC_000005.10:g.37169219G>A	TOPMed
rs1224174978	p.Ala2270Val	missense variant	-	NC_000005.10:g.37169215G>A	gnomAD
NCI-TCGA novel	p.Ala2270Ser	missense variant	-	NC_000005.10:g.37169216C>A	NCI-TCGA
rs746910113	p.Leu2271Val	missense variant	-	NC_000005.10:g.37169213G>C	ExAC,gnomAD
rs777757781	p.Pro2272Leu	missense variant	-	NC_000005.10:g.37169209G>A	ExAC,gnomAD
rs1297390337	p.Ala2276Pro	missense variant	-	NC_000005.10:g.37169198C>G	TOPMed,gnomAD
rs1264157136	p.Ala2276Val	missense variant	-	NC_000005.10:g.37169197G>A	TOPMed
rs1431327344	p.Pro2280Leu	missense variant	-	NC_000005.10:g.37169185G>A	gnomAD
rs1462923915	p.Ala2281Thr	missense variant	-	NC_000005.10:g.37169183C>T	TOPMed
rs778561588	p.Ser2282Phe	missense variant	-	NC_000005.10:g.37169179G>A	ExAC,gnomAD
COSM449602	p.His2283Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37169177G>A	NCI-TCGA Cosmic
COSM1486747	p.Asn2285Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37169170T>G	NCI-TCGA Cosmic
rs147451628	p.Ser2287Asn	missense variant	-	NC_000005.10:g.37169164C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1301874838	p.Tyr2289Cys	missense variant	-	NC_000005.10:g.37169158T>C	gnomAD
rs767939817	p.Asn2290Ser	missense variant	-	NC_000005.10:g.37169155T>C	ExAC,TOPMed
rs757803020	p.Ala2293Val	missense variant	-	NC_000005.10:g.37169146G>A	ExAC,gnomAD
COSM449600	p.Arg2294Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37169143C>G	NCI-TCGA Cosmic
rs752040838	p.Glu2297Ter	stop gained	-	NC_000005.10:g.37169135C>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu2297LysPheSerTerUnkUnk	frameshift	-	NC_000005.10:g.37169136T>-	NCI-TCGA
rs764501132	p.Val2298Ile	missense variant	-	NC_000005.10:g.37169132C>T	ExAC,gnomAD
rs1195442022	p.Glu2299Lys	missense variant	-	NC_000005.10:g.37169129C>T	TOPMed
rs765445066	p.Lys2301Asn	missense variant	-	NC_000005.10:g.37169121C>G	ExAC,TOPMed,gnomAD
rs775583275	p.Lys2301Met	missense variant	-	NC_000005.10:g.37169122T>A	ExAC,gnomAD
RCV000254124	p.Thr2302Met	missense variant	-	NC_000005.10:g.37169119G>A	ClinVar
rs34737149	p.Thr2302Met	missense variant	-	NC_000005.10:g.37169119G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3855063	p.Ala2304Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37169113G>A	NCI-TCGA Cosmic
rs377342410	p.Ala2304Thr	missense variant	-	NC_000005.10:g.37169114C>T	ESP,ExAC,TOPMed,gnomAD
rs377342410	p.Ala2304Pro	missense variant	-	NC_000005.10:g.37169114C>G	ESP,ExAC,TOPMed,gnomAD
rs1308328787	p.Thr2306Ser	missense variant	-	NC_000005.10:g.37169108T>A	gnomAD
rs1467364085	p.Val2307Ile	missense variant	-	NC_000005.10:g.37169105C>T	TOPMed
COSM1486745	p.Asn2313Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37169085A>T	NCI-TCGA Cosmic
rs150094586	p.Asn2313Asp	missense variant	-	NC_000005.10:g.37169087T>C	ESP,ExAC,TOPMed,gnomAD
COSM3975524	p.His2314Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37169083T>C	NCI-TCGA Cosmic
COSM6170953	p.Asp2318Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37169072C>A	NCI-TCGA Cosmic
rs991996322	p.Asp2318Gly	missense variant	-	NC_000005.10:g.37169071T>C	TOPMed,gnomAD
rs773273441	p.Gln2319Leu	missense variant	-	NC_000005.10:g.37169068T>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln2319Ter	stop gained	-	NC_000005.10:g.37169069G>A	NCI-TCGA
rs143147192	p.Gln2319His	missense variant	-	NC_000005.10:g.37169067T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1337691600	p.Val2321Ile	missense variant	-	NC_000005.10:g.37169063C>T	TOPMed
rs1218624700	p.Gly2322Arg	missense variant	-	NC_000005.10:g.37169060C>T	TOPMed
rs369786012	p.Gln2323Arg	missense variant	-	NC_000005.10:g.37169056T>C	ESP,ExAC,TOPMed,gnomAD
rs369786012	p.Gln2323Pro	missense variant	-	NC_000005.10:g.37169056T>G	ESP,ExAC,TOPMed,gnomAD
rs747892965	p.Gln2323Ter	stop gained	-	NC_000005.10:g.37169057G>A	ExAC,TOPMed,gnomAD
rs1178453531	p.Asn2325Ser	missense variant	-	NC_000005.10:g.37169050T>C	gnomAD
COSM6103729	p.Leu2326Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37169046C>G	NCI-TCGA Cosmic
rs369870543	p.Leu2326Val	missense variant	-	NC_000005.10:g.37169048A>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr2327Ala	missense variant	-	NC_000005.10:g.37169045T>C	NCI-TCGA
rs755609467	p.Pro2328Ser	missense variant	-	NC_000005.10:g.37169042G>A	ExAC,gnomAD
rs755609467	p.Pro2328Ala	missense variant	-	NC_000005.10:g.37169042G>C	ExAC,gnomAD
rs1207045681	p.Gln2329Ter	stop gained	-	NC_000005.10:g.37169039G>A	TOPMed
RCV000350878	p.Gln2330Arg	missense variant	-	NC_000005.10:g.37169035T>C	ClinVar
rs886041152	p.Gln2330Arg	missense variant	-	NC_000005.10:g.37169035T>C	TOPMed,gnomAD
COSM274299	p.Asp2331Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37169033C>T	NCI-TCGA Cosmic
rs778190592	p.Asp2331Tyr	missense variant	-	NC_000005.10:g.37169033C>A	ExAC,gnomAD
rs1206955333	p.Ser2332Cys	missense variant	-	NC_000005.10:g.37169029G>C	gnomAD
rs1276661353	p.Ser2332Pro	missense variant	-	NC_000005.10:g.37169030A>G	gnomAD
rs1384646636	p.Ile2336Met	missense variant	-	NC_000005.10:g.37169016T>C	gnomAD
rs548311210	p.Pro2338Ala	missense variant	-	NC_000005.10:g.37169012G>C	1000Genomes,ExAC,gnomAD
rs565835408	p.Lys2340Asn	missense variant	-	NC_000005.10:g.37169004T>A	ExAC,TOPMed,gnomAD
rs1400751781	p.Leu2341Pro	missense variant	-	NC_000005.10:g.37169002A>G	TOPMed,gnomAD
rs972193512	p.Asp2343Glu	missense variant	-	NC_000005.10:g.37168995A>C	TOPMed
NCI-TCGA novel	p.Val2344Ile	missense variant	-	NC_000005.10:g.37168994C>T	NCI-TCGA
rs900094866	p.Pro2346Ser	missense variant	-	NC_000005.10:g.37168988G>A	TOPMed
rs761730351	p.Ile2351Met	missense variant	-	NC_000005.10:g.37168971T>C	ExAC,gnomAD
RCV000522594	p.Ser2352Pro	missense variant	-	NC_000005.10:g.37168970A>G	ClinVar
rs774239772	p.Ser2352Pro	missense variant	-	NC_000005.10:g.37168970A>G	ExAC,TOPMed,gnomAD
rs774239772	p.Ser2352Ala	missense variant	-	NC_000005.10:g.37168970A>C	ExAC,TOPMed,gnomAD
rs1317886001	p.Pro2353Ser	missense variant	-	NC_000005.10:g.37168967G>A	TOPMed
rs1259893340	p.Pro2353Leu	missense variant	-	NC_000005.10:g.37168966G>A	gnomAD
rs768316097	p.His2354Gln	missense variant	-	NC_000005.10:g.37168962G>C	ExAC,gnomAD
rs1236201954	p.His2355Asn	missense variant	-	NC_000005.10:g.37168961G>T	gnomAD
rs529965774	p.Leu2359Arg	missense variant	-	NC_000005.10:g.37168948A>C	1000Genomes,ExAC,gnomAD
rs1211605950	p.Leu2359Ile	missense variant	-	NC_000005.10:g.37168949G>T	TOPMed,gnomAD
rs779569678	p.Pro2360Arg	missense variant	-	NC_000005.10:g.37168945G>C	ExAC,TOPMed,gnomAD
rs779569678	p.Pro2360Leu	missense variant	-	NC_000005.10:g.37168945G>A	ExAC,TOPMed,gnomAD
RCV000489735	p.Pro2360Ter	frameshift	-	NC_000005.10:g.37168946del	ClinVar
rs745328102	p.Tyr2363Ser	missense variant	-	NC_000005.10:g.37168936T>G	ExAC,gnomAD
COSM1067776	p.Pro2365Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37168931G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu2366GlnPheSerTerUnk	frameshift	-	NC_000005.10:g.37168927_37168928insAATAATGATT	NCI-TCGA
rs1227508016	p.Leu2366Phe	missense variant	-	NC_000005.10:g.37168928G>A	gnomAD
RCV000404414	p.Lys2367Glu	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37168925T>C	ClinVar
rs778278672	p.Lys2367Glu	missense variant	-	NC_000005.10:g.37168925T>C	ExAC,TOPMed,gnomAD
rs1189341048	p.Pro2368Leu	missense variant	-	NC_000005.10:g.37168921G>A	TOPMed
rs375221056	p.Pro2369Arg	missense variant	-	NC_000005.10:g.37168918G>C	ESP,ExAC,TOPMed,gnomAD
rs569091312	p.Met2371Thr	missense variant	-	NC_000005.10:g.37168912A>G	1000Genomes,ExAC,gnomAD
COSM268812	p.Pro2373Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37168907G>A	NCI-TCGA Cosmic
rs779388665	p.Thr2375Ala	missense variant	-	NC_000005.10:g.37168901T>C	ExAC,TOPMed,gnomAD
rs779388665	p.Thr2375Ser	missense variant	-	NC_000005.10:g.37168901T>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr2375Asn	missense variant	-	NC_000005.10:g.37168900G>T	NCI-TCGA
NCI-TCGA novel	p.Ser2376Leu	missense variant	-	NC_000005.10:g.37168897G>A	NCI-TCGA
rs755291552	p.Ala2378Thr	missense variant	-	NC_000005.10:g.37168892C>T	ExAC,gnomAD
rs766649891	p.Thr2381Arg	missense variant	-	NC_000005.10:g.37168882G>C	ExAC,gnomAD
rs958703830	p.Val2382Phe	missense variant	-	NC_000005.10:g.37168880C>A	gnomAD
rs760859342	p.Pro2383Leu	missense variant	-	NC_000005.10:g.37168876G>A	ExAC,gnomAD
rs750489289	p.Thr2385Ala	missense variant	-	NC_000005.10:g.37168871T>C	ExAC,gnomAD
rs369361493	p.Thr2385Ile	missense variant	-	NC_000005.10:g.37168870G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1351045535	p.Ile2387Val	missense variant	-	NC_000005.10:g.37168865T>C	TOPMed
rs777957964	p.Ile2387Met	missense variant	-	NC_000005.10:g.37168863G>C	gnomAD
RCV000658254	p.Ile2387Val	missense variant	-	NC_000005.10:g.37168865T>C	ClinVar
rs1490915047	p.Glu2393Val	missense variant	-	NC_000005.10:g.37168846T>A	gnomAD
rs1269829940	p.Glu2393Asp	missense variant	-	NC_000005.10:g.37168845T>G	TOPMed,gnomAD
rs761860332	p.Lys2395Arg	missense variant	-	NC_000005.10:g.37168840T>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys2395Thr	missense variant	-	NC_000005.10:g.37168840T>G	NCI-TCGA
RCV000201582	p.Pro2397Ter	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37168836del	ClinVar
NCI-TCGA novel	p.Arg2398Ile	missense variant	-	NC_000005.10:g.37168831C>A	NCI-TCGA
rs1374565310	p.Leu2402Ile	missense variant	-	NC_000005.10:g.37168820G>T	TOPMed
rs768563059	p.Ser2404Leu	missense variant	-	NC_000005.10:g.37168813G>A	ExAC,TOPMed,gnomAD
rs762589757	p.His2405Arg	missense variant	-	NC_000005.10:g.37168810T>C	ExAC,gnomAD
rs775140213	p.Ser2407Tyr	missense variant	-	NC_000005.10:g.37168804G>T	ExAC,gnomAD
rs769392264	p.Pro2408Ala	missense variant	-	NC_000005.10:g.37168802G>C	ExAC,gnomAD
rs1020416264	p.Arg2411Lys	missense variant	-	NC_000005.10:g.37168792C>T	TOPMed,gnomAD
rs1471004012	p.Cys2412Arg	missense variant	-	NC_000005.10:g.37167213A>G	TOPMed,gnomAD
rs1367844401	p.Lys2413Arg	missense variant	-	NC_000005.10:g.37167209T>C	gnomAD
rs767764800	p.Lys2413Gln	missense variant	-	NC_000005.10:g.37167210T>G	ExAC,gnomAD
rs758322225	p.Thr2415HisPheSerTerUnkUnk	frameshift	-	NC_000005.10:g.37167204T>-	NCI-TCGA,NCI-TCGA Cosmic
rs1413031662	p.Thr2415Ala	missense variant	-	NC_000005.10:g.37167204T>C	gnomAD
rs763880761	p.Gln2416Glu	missense variant	-	NC_000005.10:g.37167201G>C	ExAC,TOPMed,gnomAD
rs763880761	p.Gln2416Lys	missense variant	-	NC_000005.10:g.37167201G>T	ExAC,TOPMed,gnomAD
COSM4401751	p.Leu2417Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37167197A>C	NCI-TCGA Cosmic
rs1236306561	p.Leu2417Phe	missense variant	-	NC_000005.10:g.37167198G>A	gnomAD
rs775229916	p.Ile2418Thr	missense variant	-	NC_000005.10:g.37167194A>G	ExAC,gnomAD
rs1425342011	p.Pro2419Leu	missense variant	-	NC_000005.10:g.37167191G>A	gnomAD
rs557347733	p.Leu2423Phe	missense variant	-	NC_000005.10:g.37167180G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs374629869	p.Ile2424Thr	missense variant	-	NC_000005.10:g.37167176A>G	ESP,ExAC,TOPMed,gnomAD
rs371361208	p.Ala2425Val	missense variant	-	NC_000005.10:g.37167173G>A	ExAC,TOPMed,gnomAD
rs1378532026	p.Gln2428Glu	missense variant	-	NC_000005.10:g.37167165G>C	TOPMed
NCI-TCGA novel	p.Ser2429Cys	missense variant	-	NC_000005.10:g.37167162T>A	NCI-TCGA
rs368636136	p.Gln2430Arg	missense variant	-	NC_000005.10:g.37167158T>C	ESP
rs769003125	p.Gln2431Arg	missense variant	-	NC_000005.10:g.37167155T>C	ExAC,gnomAD
RCV000425279	p.Leu2433Pro	missense variant	-	NC_000005.10:g.37167149A>G	ClinVar
rs372655878	p.Leu2433Pro	missense variant	-	NC_000005.10:g.37167149A>G	ExAC,TOPMed,gnomAD
RCV000280605	p.Leu2433Pro	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37167149A>G	ClinVar
rs746161713	p.His2435Arg	missense variant	-	NC_000005.10:g.37167143T>C	ExAC,gnomAD
COSM6170959	p.Gln2440His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37167127T>G	NCI-TCGA Cosmic
rs757372574	p.Gly2441Asp	missense variant	-	NC_000005.10:g.37167125C>T	ExAC,gnomAD
rs1271726278	p.Asp2442Val	missense variant	-	NC_000005.10:g.37167122T>A	TOPMed
rs1378331431	p.Asp2442Asn	missense variant	-	NC_000005.10:g.37167123C>T	gnomAD
rs751548147	p.Gly2444Glu	missense variant	-	NC_000005.10:g.37167116C>T	ExAC,gnomAD
RCV000372715	p.Gly2444Glu	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37167116C>T	ClinVar
rs1424374141	p.Gln2447His	missense variant	-	NC_000005.10:g.37167106T>G	TOPMed,gnomAD
rs764127814	p.Val2451Ile	missense variant	-	NC_000005.10:g.37167096C>T	ExAC,TOPMed,gnomAD
rs758310612	p.Lys2452Thr	missense variant	-	NC_000005.10:g.37167092T>G	ExAC
RCV000334532	p.Glu2454Lys	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37167087C>T	ClinVar
rs867750018	p.Glu2454Lys	missense variant	-	NC_000005.10:g.37167087C>T	TOPMed,gnomAD
rs1473120597	p.Glu2454Asp	missense variant	-	NC_000005.10:g.37167085T>G	TOPMed
rs370647204	p.Pro2456Thr	missense variant	-	NC_000005.10:g.37167081G>T	ESP,ExAC,TOPMed,gnomAD
rs146595129	p.Pro2456Arg	missense variant	-	NC_000005.10:g.37167080G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146595129	p.Pro2456Leu	missense variant	-	NC_000005.10:g.37167080G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370647204	p.Pro2456Ser	missense variant	-	NC_000005.10:g.37167081G>A	ESP,ExAC,TOPMed,gnomAD
rs760263591	p.Arg2459Lys	missense variant	-	NC_000005.10:g.37167071C>T	ExAC,gnomAD
rs771587067	p.Lys2462Arg	missense variant	-	NC_000005.10:g.37167062T>C	ExAC,TOPMed,gnomAD
rs772638108	p.Lys2462Glu	missense variant	-	NC_000005.10:g.37167063T>C	ExAC,gnomAD
rs1312574220	p.Lys2465Glu	missense variant	-	NC_000005.10:g.37167054T>C	gnomAD
rs776137645	p.Lys2465Asn	missense variant	-	NC_000005.10:g.37167052T>G	ExAC,gnomAD
COSM2688209	p.Arg2467GlyPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.37167048T>-	NCI-TCGA Cosmic
rs144391535	p.Arg2470Gly	missense variant	-	NC_000005.10:g.37165664T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs866330679	p.Ala2472Thr	missense variant	-	NC_000005.10:g.37165658C>T	TOPMed,gnomAD
rs1253323704	p.Glu2473Gly	missense variant	-	NC_000005.10:g.37165654T>C	TOPMed
rs886060576	p.Glu2473Lys	missense variant	-	NC_000005.10:g.37165655C>T	-
RCV000295865	p.Glu2473Lys	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37165655C>T	ClinVar
rs776153982	p.Lys2474Glu	missense variant	-	NC_000005.10:g.37165652T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu2475Gln	missense variant	-	NC_000005.10:g.37165649C>G	NCI-TCGA
COSM482789	p.Lys2479Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37165636T>C	NCI-TCGA Cosmic
COSM1067770	p.Arg2480Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37165633C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg2480AspPheSerTerUnk	frameshift	-	NC_000005.10:g.37165634T>-	NCI-TCGA
NCI-TCGA novel	p.Arg2480Lys	missense variant	-	NC_000005.10:g.37165633C>T	NCI-TCGA
RCV000387628	p.Arg2480Ter	frameshift	Joubert syndrome (JBTS)	NC_000005.10:g.37165639dup	ClinVar
rs563822555	p.Glu2482Lys	missense variant	-	NC_000005.10:g.37165628C>T	1000Genomes,gnomAD
rs760013081	p.Glu2482Asp	missense variant	-	NC_000005.10:g.37165626C>G	ExAC,TOPMed,gnomAD
rs1199052348	p.Arg2486Lys	missense variant	-	NC_000005.10:g.37165615C>T	TOPMed,gnomAD
rs1189972276	p.Lys2487Arg	missense variant	-	NC_000005.10:g.37165612T>C	TOPMed
rs149781800	p.Asn2489Lys	missense variant	-	NC_000005.10:g.37165605A>C	ESP
RCV000763544	p.Arg2493Ter	nonsense	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37165595G>A	ClinVar
RCV000330806	p.Arg2493Leu	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37165594C>A	ClinVar
rs183942272	p.Arg2493Gln	missense variant	-	NC_000005.10:g.37165594C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs183942272	p.Arg2493Leu	missense variant	-	NC_000005.10:g.37165594C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs139675596	p.Arg2493Ter	stop gained	Joubert syndrome 17 (jbts17)	NC_000005.10:g.37165595G>A	ESP,ExAC,TOPMed,gnomAD
RCV000024222	p.Arg2493Ter	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37165595G>A	ClinVar
rs1259217386	p.Pro2494Gln	missense variant	-	NC_000005.10:g.37165591G>T	gnomAD
NCI-TCGA novel	p.Glu2495Asp	missense variant	-	NC_000005.10:g.37165587C>A	NCI-TCGA
rs772150231	p.Asn2496Asp	missense variant	-	NC_000005.10:g.37165586T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser2497Pro	missense variant	-	NC_000005.10:g.37165583A>G	NCI-TCGA
NCI-TCGA novel	p.Ser2497Phe	missense variant	-	NC_000005.10:g.37165582G>A	NCI-TCGA
rs940680431	p.Ile2498Val	missense variant	-	NC_000005.10:g.37165580T>C	TOPMed
rs909137914	p.Asn2501Ser	missense variant	-	NC_000005.10:g.37165570T>C	TOPMed,gnomAD
rs1267264302	p.Asp2502Glu	missense variant	-	NC_000005.10:g.37165566A>C	gnomAD
rs377710348	p.Asp2503Asn	missense variant	-	NC_000005.10:g.37165565C>T	ESP,ExAC,TOPMed,gnomAD
rs377710348	p.Asp2503Tyr	missense variant	-	NC_000005.10:g.37165565C>A	ESP,ExAC,TOPMed,gnomAD
rs1208635414	p.Ser2504Leu	missense variant	-	NC_000005.10:g.37165561G>A	TOPMed,gnomAD
rs937224174	p.Ile2507Thr	missense variant	-	NC_000005.10:g.37165552A>G	TOPMed,gnomAD
COSM1437338	p.Lys2509Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37165546T>C	NCI-TCGA Cosmic
COSM3615977	p.Pro2510Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37165543G>A	NCI-TCGA Cosmic
rs768709495	p.Gln2514Glu	missense variant	-	NC_000005.10:g.37164321G>C	ExAC,gnomAD
rs1208524492	p.Gln2514Arg	missense variant	-	NC_000005.10:g.37164320T>C	gnomAD
rs779976528	p.Glu2515Gln	missense variant	-	NC_000005.10:g.37164318C>G	ExAC,TOPMed
rs755876129	p.His2516Arg	missense variant	-	NC_000005.10:g.37164314T>C	ExAC,gnomAD
rs745629319	p.Cys2517Arg	missense variant	-	NC_000005.10:g.37164312A>G	ExAC,gnomAD
rs781025101	p.Gly2518Val	missense variant	-	NC_000005.10:g.37164308C>A	ExAC,gnomAD
rs1219156672	p.Ser2519Cys	missense variant	-	NC_000005.10:g.37164305G>C	gnomAD
rs757013066	p.His2520Tyr	missense variant	-	NC_000005.10:g.37164303G>A	ExAC,gnomAD
rs369951498	p.His2520Arg	missense variant	-	NC_000005.10:g.37164302T>C	ESP,ExAC,TOPMed,gnomAD
COSM3615975	p.Pro2521Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37164300G>A	NCI-TCGA Cosmic
rs922260468	p.Pro2521Arg	missense variant	-	NC_000005.10:g.37164299G>C	TOPMed,gnomAD
rs1358414759	p.Asp2523Asn	missense variant	-	NC_000005.10:g.37164294C>T	gnomAD
rs1284656558	p.Asp2524Glu	missense variant	-	NC_000005.10:g.37164289G>T	gnomAD
rs535480596	p.Asp2526Asn	missense variant	-	NC_000005.10:g.37164285C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs749261159	p.Val2527Ile	missense variant	-	NC_000005.10:g.37164282C>T	ExAC,TOPMed,gnomAD
rs760976416	p.Pro2528Leu	missense variant	-	NC_000005.10:g.37164278G>A	ExAC
rs1359475338	p.Pro2528Thr	missense variant	-	NC_000005.10:g.37164279G>T	gnomAD
rs1298014994	p.Glu2530Ter	stop gained	-	NC_000005.10:g.37164273C>A	gnomAD
rs764251745	p.Met2531Ile	missense variant	-	NC_000005.10:g.37162562C>T	ExAC,gnomAD
rs904884378	p.Met2531Thr	missense variant	-	NC_000005.10:g.37162563A>G	TOPMed
rs1013620636	p.Gln2533Pro	missense variant	-	NC_000005.10:g.37162557T>G	TOPMed
rs1170297392	p.Gln2533Glu	missense variant	-	NC_000005.10:g.37162558G>C	TOPMed
rs1479125312	p.Asn2536Ser	missense variant	-	NC_000005.10:g.37162548T>C	gnomAD
rs769743728	p.Ser2538Ala	missense variant	-	NC_000005.10:g.37162543A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser2538Leu	missense variant	-	NC_000005.10:g.37162542G>A	NCI-TCGA
rs759577755	p.Ala2539Pro	missense variant	-	NC_000005.10:g.37162540C>G	ExAC,gnomAD
rs150595284	p.Ala2539Val	missense variant	-	NC_000005.10:g.37162539G>A	ESP,ExAC,TOPMed,gnomAD
RCV000426152	p.Ala2539Val	missense variant	-	NC_000005.10:g.37162539G>A	ClinVar
rs1255603795	p.Met2544Ile	missense variant	-	NC_000005.10:g.37162523C>A	gnomAD
rs746748652	p.Met2544Val	missense variant	-	NC_000005.10:g.37162525T>C	ExAC,gnomAD
rs1367845087	p.Ser2546Phe	missense variant	-	NC_000005.10:g.37162518G>A	gnomAD
rs777596158	p.Ser2546Pro	missense variant	-	NC_000005.10:g.37162519A>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys2549ArgPheSerTerUnk	frameshift	-	NC_000005.10:g.37162509T>-	NCI-TCGA
NCI-TCGA novel	p.Lys2549Asn	missense variant	-	NC_000005.10:g.37162508C>A	NCI-TCGA
rs1333881954	p.Ile2552Val	missense variant	-	NC_000005.10:g.37162501T>C	gnomAD
rs1399729257	p.Gln2555Ter	stop gained	-	NC_000005.10:g.37162492G>A	gnomAD
rs1254195539	p.Asp2556Asn	missense variant	-	NC_000005.10:g.37162489C>T	gnomAD
COSM1437336	p.Ala2557Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37162485G>A	NCI-TCGA Cosmic
rs754440323	p.Ala2557Thr	missense variant	-	NC_000005.10:g.37162486C>T	ExAC,gnomAD
rs1426095975	p.Ser2558Arg	missense variant	-	NC_000005.10:g.37162483T>G	gnomAD
rs1271387050	p.Asn2560Asp	missense variant	-	NC_000005.10:g.37162477T>C	TOPMed
COSM6103731	p.Thr2561Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37162474T>C	NCI-TCGA Cosmic
rs750933570	p.Thr2561Ile	missense variant	-	NC_000005.10:g.37162473G>A	ExAC,gnomAD
rs748748730	p.Leu2568Phe	missense variant	-	NC_000005.10:g.37158332C>G	ExAC,gnomAD
rs781687730	p.Thr2569Ala	missense variant	-	NC_000005.10:g.37158331T>C	ExAC,gnomAD
rs757802926	p.Ala2570Ser	missense variant	-	NC_000005.10:g.37158328C>A	ExAC,gnomAD
rs1413219707	p.Pro2571Ser	missense variant	-	NC_000005.10:g.37158325G>A	gnomAD
rs1298611902	p.Leu2574Met	missense variant	-	NC_000005.10:g.37158316A>T	gnomAD
rs778261277	p.Asp2577Val	missense variant	-	NC_000005.10:g.37158306T>A	ExAC,gnomAD
COSM279426	p.Asp2577Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37158307C>A	NCI-TCGA Cosmic
COSM449598	p.Tyr2579Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37158300T>A	NCI-TCGA Cosmic
rs771614298	p.Tyr2579Cys	missense variant	-	NC_000005.10:g.37158300T>C	ExAC,gnomAD
rs1412521587	p.Lys2583Met	missense variant	-	NC_000005.10:g.37158288T>A	gnomAD
rs1217838562	p.Ser2585Cys	missense variant	-	NC_000005.10:g.37158282G>C	gnomAD
rs376307103	p.Ser2585Ala	missense variant	-	NC_000005.10:g.37158283A>C	ESP,gnomAD
rs759716117	p.Ser2586Gly	missense variant	-	NC_000005.10:g.37158280T>C	ExAC,gnomAD
rs1322825265	p.Glu2587Asp	missense variant	-	NC_000005.10:g.37158275T>G	gnomAD
rs766541647	p.Glu2587Gly	missense variant	-	NC_000005.10:g.37158276T>C	ExAC,TOPMed,gnomAD
rs754007510	p.Glu2587Gln	missense variant	-	NC_000005.10:g.37158277C>G	ExAC,gnomAD
rs760750533	p.Met2588Ile	missense variant	-	NC_000005.10:g.37158272C>T	ExAC,TOPMed,gnomAD
rs1391160336	p.Met2588Thr	missense variant	-	NC_000005.10:g.37158273A>G	TOPMed
rs773017769	p.Ser2589Pro	missense variant	-	NC_000005.10:g.37158271A>G	ExAC,TOPMed,gnomAD
rs1231593037	p.Glu2590Asp	missense variant	-	NC_000005.10:g.37158266C>A	TOPMed
rs16903518	p.Pro2592Leu	missense variant	-	NC_000005.10:g.37158261G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000327038	p.Pro2592Leu	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37158261G>A	ClinVar
rs1382954500	p.Pro2592Ser	missense variant	-	NC_000005.10:g.37158262G>A	gnomAD
rs863225159	p.Trp2593Ter	stop gained	-	NC_000005.10:g.37158258C>T	TOPMed
rs863225159	p.Trp2593Ser	missense variant	-	NC_000005.10:g.37158258C>G	TOPMed
RCV000201681	p.Trp2593Ter	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37158258C>T	ClinVar
rs1382604743	p.Ser2594Ter	stop gained	-	NC_000005.10:g.37158255G>C	gnomAD
rs139756203	p.Pro2595Leu	missense variant	-	NC_000005.10:g.37158252G>A	ESP
rs1458394098	p.Ile2597Met	missense variant	-	NC_000005.10:g.37158245T>C	gnomAD
rs774074728	p.Ile2597Val	missense variant	-	NC_000005.10:g.37158247T>C	ExAC,TOPMed,gnomAD
rs940440264	p.His2599Arg	missense variant	-	NC_000005.10:g.37158240T>C	TOPMed
rs748908546	p.Thr2600Ile	missense variant	-	NC_000005.10:g.37158237G>A	ExAC,gnomAD
rs768154559	p.Thr2600Ala	missense variant	-	NC_000005.10:g.37158238T>C	ExAC,gnomAD
rs769282058	p.Val2601Ala	missense variant	-	NC_000005.10:g.37158234A>G	ExAC,gnomAD
rs778078642	p.Thr2602Ile	missense variant	-	NC_000005.10:g.37158231G>A	ExAC,gnomAD
rs778078642	p.Thr2602Arg	missense variant	-	NC_000005.10:g.37158231G>C	ExAC,gnomAD
rs1260144413	p.Asn2603Tyr	missense variant	-	NC_000005.10:g.37158229T>A	gnomAD
rs758807080	p.Leu2604Phe	missense variant	-	NC_000005.10:g.37158224C>A	ExAC,gnomAD
rs755388205	p.Glu2605Lys	missense variant	-	NC_000005.10:g.37157814C>T	ExAC,TOPMed,gnomAD
RCV000415153	p.Leu2606Ter	nonsense	Global developmental delay (DD)	NC_000005.10:g.37157810A>T	ClinVar
RCV000255254	p.Leu2606Ter	nonsense	-	NC_000005.10:g.37157810A>T	ClinVar
rs749523755	p.Leu2606Ter	stop gained	-	NC_000005.10:g.37157810A>T	ExAC,TOPMed,gnomAD
RCV000201773	p.Leu2606Ter	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37157810A>T	ClinVar
RCV000646703	p.Leu2606Ter	nonsense	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37157810A>T	ClinVar
rs780364860	p.Pro2607Ser	missense variant	-	NC_000005.10:g.37157808G>A	ExAC,TOPMed,gnomAD
rs780364860	p.Pro2607Thr	missense variant	-	NC_000005.10:g.37157808G>T	ExAC,TOPMed,gnomAD
rs1172144094	p.Val2608Leu	missense variant	-	NC_000005.10:g.37157805C>G	gnomAD
rs200930248	p.Glu2610Val	missense variant	-	NC_000005.10:g.37157798T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser2613Leu	missense variant	-	NC_000005.10:g.37157789G>A	NCI-TCGA
NCI-TCGA novel	p.Asp2615Asn	missense variant	-	NC_000005.10:g.37157784C>T	NCI-TCGA
rs375351922	p.Asn2616Ser	missense variant	-	NC_000005.10:g.37157780T>C	ESP,TOPMed,gnomAD
rs200125242	p.Gln2621Lys	missense variant	-	NC_000005.10:g.37157766G>T	ExAC,gnomAD
rs909028294	p.Gln2621Leu	missense variant	-	NC_000005.10:g.37157765T>A	TOPMed,gnomAD
rs200125242	p.Gln2621Ter	stop gained	-	NC_000005.10:g.37157766G>A	ExAC,gnomAD
rs763944746	p.Asp2623Asn	missense variant	-	NC_000005.10:g.37157760C>T	ExAC,gnomAD
rs762672416	p.Ala2626Val	missense variant	-	NC_000005.10:g.37157750G>A	ExAC,gnomAD
rs1278821839	p.Val2627Ile	missense variant	-	NC_000005.10:g.37157748C>T	TOPMed,gnomAD
COSM3615973	p.Pro2628Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37157745G>A	NCI-TCGA Cosmic
rs202140926	p.Ser2629Leu	missense variant	-	NC_000005.10:g.37157741G>A	ESP,ExAC,TOPMed,gnomAD
rs1341812944	p.Ser2629Ala	missense variant	-	NC_000005.10:g.37157742A>C	gnomAD
rs1373212737	p.Ala2631Gly	missense variant	-	NC_000005.10:g.37157735G>C	gnomAD
RCV000304848	p.His2634Arg	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37157726T>C	ClinVar
rs373755833	p.His2634Arg	missense variant	-	NC_000005.10:g.37157726T>C	ESP,ExAC,TOPMed,gnomAD
rs371374142	p.Tyr2635Cys	missense variant	-	NC_000005.10:g.37157723T>C	ESP,ExAC,TOPMed,gnomAD
rs1340028712	p.Met2636Thr	missense variant	-	NC_000005.10:g.37157720A>G	TOPMed,gnomAD
rs762290119	p.Met2636Val	missense variant	-	NC_000005.10:g.37157721T>C	ExAC,TOPMed,gnomAD
rs778345084	p.Ala2637Val	missense variant	-	NC_000005.10:g.37157717G>A	ExAC,TOPMed,gnomAD
rs769154511	p.Ala2638Val	missense variant	-	NC_000005.10:g.37157714G>A	ExAC,gnomAD
rs769154511	p.Ala2638Gly	missense variant	-	NC_000005.10:g.37157714G>C	ExAC,gnomAD
rs79399627	p.Ser2639Leu	missense variant	-	NC_000005.10:g.37157711G>A	-
rs988332114	p.Val2640Ile	missense variant	-	NC_000005.10:g.37157709C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Thr2641Ala	missense variant	-	NC_000005.10:g.37157706T>C	NCI-TCGA
rs756411183	p.Asn2642Asp	missense variant	-	NC_000005.10:g.37157703T>C	ExAC,TOPMed,gnomAD
rs756411183	p.Asn2642His	missense variant	-	NC_000005.10:g.37157703T>G	ExAC,TOPMed,gnomAD
rs1218533130	p.Asn2642Lys	missense variant	-	NC_000005.10:g.37157701A>C	gnomAD
RCV000266245	p.Val2644Leu	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37157697C>G	ClinVar
rs772274656	p.Val2644Leu	missense variant	-	NC_000005.10:g.37157697C>G	TOPMed,gnomAD
rs187659028	p.Pro2645Ser	missense variant	-	NC_000005.10:g.37157694G>A	1000Genomes,ExAC,gnomAD
RCV000530477	p.Pro2646Ter	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37157693_37157694del	ClinVar
rs896218202	p.Pro2646Gln	missense variant	-	NC_000005.10:g.37157690G>T	gnomAD
rs1232111191	p.His2647Tyr	missense variant	-	NC_000005.10:g.37157688G>A	gnomAD
COSM1067767	p.Phe2649Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37157681A>C	NCI-TCGA Cosmic
rs916238209	p.Phe2659Leu	missense variant	-	NC_000005.10:g.37153974G>C	TOPMed,gnomAD
rs765750324	p.Arg2660Gln	missense variant	-	NC_000005.10:g.37153972C>T	ExAC,gnomAD
rs147416429	p.Arg2660Ter	stop gained	-	NC_000005.10:g.37153973G>A	ESP,ExAC,TOPMed,gnomAD
RCV000201628	p.Arg2660Ter	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37153973G>A	ClinVar
COSM3776669	p.Phe2661Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37153968G>C	NCI-TCGA Cosmic
rs759855888	p.Gln2664Leu	missense variant	-	NC_000005.10:g.37153960T>A	ExAC
rs777081792	p.Lys2667Glu	missense variant	-	NC_000005.10:g.37153952T>C	ExAC,TOPMed,gnomAD
rs1217204932	p.Asp2673Tyr	missense variant	-	NC_000005.10:g.37153934C>A	gnomAD
rs1316822863	p.Tyr2674Phe	missense variant	-	NC_000005.10:g.37153930T>A	gnomAD
NCI-TCGA novel	p.Leu2675CysPheSerTerUnkUnk	frameshift	-	NC_000005.10:g.37153925_37153928ATAG>-	NCI-TCGA
rs773422060	p.Lys2678Gln	missense variant	-	NC_000005.10:g.37153919T>G	ExAC,gnomAD
rs142792453	p.Arg2679Trp	missense variant	-	NC_000005.10:g.37153916G>A	ESP,ExAC,TOPMed,gnomAD
rs748207149	p.Arg2679Gln	missense variant	-	NC_000005.10:g.37153915C>T	ExAC,TOPMed,gnomAD
RCV000358559	p.Arg2679Trp	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37153916G>A	ClinVar
rs768671286	p.Gly2682Arg	missense variant	-	NC_000005.10:g.37153907C>G	ExAC,gnomAD
rs1174907463	p.Gly2682Asp	missense variant	-	NC_000005.10:g.37153906C>T	gnomAD
VAR_082878	p.Ala2684Thr	Missense	Joubert syndrome 17 (JBTS17) [MIM:614615]	-	UniProt
rs1453011000	p.Cys2687Phe	missense variant	-	NC_000005.10:g.37153891C>A	TOPMed,gnomAD
COSM3919998	p.Pro2688Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37153889G>A	NCI-TCGA Cosmic
rs749132510	p.Ala2694Pro	missense variant	-	NC_000005.10:g.37153871C>G	ExAC,gnomAD
RCV000597090	p.Ala2694Thr	missense variant	-	NC_000005.10:g.37153871C>T	ClinVar
rs749132510	p.Ala2694Thr	missense variant	-	NC_000005.10:g.37153871C>T	ExAC,gnomAD
rs1321227202	p.His2695Arg	missense variant	-	NC_000005.10:g.37153867T>C	TOPMed
rs769645726	p.Gln2696His	missense variant	-	NC_000005.10:g.37153863T>G	ExAC,gnomAD
rs769645726	p.Gln2696His	missense variant	-	NC_000005.10:g.37153863T>A	ExAC,gnomAD
rs143060853	p.Gln2696Ter	stop gained	-	NC_000005.10:g.37153865G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143060853	p.Gln2696Glu	missense variant	-	NC_000005.10:g.37153865G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1248343536	p.Leu2697Val	missense variant	-	NC_000005.10:g.37153862G>C	TOPMed
NCI-TCGA novel	p.Glu2698Ter	stop gained	-	NC_000005.10:g.37153859C>A	NCI-TCGA
rs1466001074	p.His2699Gln	missense variant	-	NC_000005.10:g.37153854A>T	TOPMed
rs149463060	p.Ser2701Arg	missense variant	-	NC_000005.10:g.37153848A>C	ESP,ExAC,TOPMed,gnomAD
rs1485846234	p.Ala2702Ser	missense variant	-	NC_000005.10:g.37153847C>A	TOPMed,gnomAD
rs764690794	p.Ile2707Ser	missense variant	-	NC_000005.10:g.37153831A>C	ExAC,TOPMed,gnomAD
rs764690794	p.Ile2707Thr	missense variant	-	NC_000005.10:g.37153831A>G	ExAC,TOPMed,gnomAD
rs114126795	p.Asp2708Glu	missense variant	-	NC_000005.10:g.37153827G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1335627553	p.Asp2708His	missense variant	-	NC_000005.10:g.37153829C>G	gnomAD
rs200612080	p.Glu2709Lys	missense variant	-	NC_000005.10:g.37153826C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000547081	p.Glu2709Lys	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37153826C>T	ClinVar
rs766837329	p.Gln2710His	missense variant	-	NC_000005.10:g.37153821C>G	ExAC,TOPMed,gnomAD
rs754236106	p.Gln2710Arg	missense variant	-	NC_000005.10:g.37153822T>C	ExAC,TOPMed,gnomAD
rs754236106	p.Gln2710Pro	missense variant	-	NC_000005.10:g.37153822T>G	ExAC,TOPMed,gnomAD
rs761017519	p.Leu2711Phe	missense variant	-	NC_000005.10:g.37153818C>A	ExAC,gnomAD
rs767698613	p.Ile2714Val	missense variant	-	NC_000005.10:g.37153811T>C	ExAC,gnomAD
rs1375688917	p.Ile2714Thr	missense variant	-	NC_000005.10:g.37153810A>G	gnomAD
rs1393176165	p.Asn2716Lys	missense variant	-	NC_000005.10:g.37153803G>C	gnomAD
NCI-TCGA novel	p.Asn2716Thr	missense variant	-	NC_000005.10:g.37153804T>G	NCI-TCGA
rs761984446	p.Ala2718Thr	missense variant	-	NC_000005.10:g.37153799C>T	ExAC,gnomAD
rs1466899045	p.Glu2719Lys	missense variant	-	NC_000005.10:g.37153796C>T	gnomAD
rs1280623208	p.Ile2721Met	missense variant	-	NC_000005.10:g.37153788T>C	TOPMed,gnomAD
rs768561508	p.Ile2721Val	missense variant	-	NC_000005.10:g.37153790T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ile2721ArgPheSerTerUnk	frameshift	-	NC_000005.10:g.37153788_37153789TA>-	NCI-TCGA
RCV000723060	p.Glu2722Phe	missense variant	-	NC_000005.10:g.37153785_37153787delinsAAA	ClinVar
rs762951863	p.Glu2722Ter	stop gained	-	NC_000005.10:g.37153787C>A	ExAC,TOPMed,gnomAD
rs769769195	p.Glu2722Asp	missense variant	-	NC_000005.10:g.37153785T>A	ExAC,TOPMed,gnomAD
rs775284647	p.Glu2722Val	missense variant	-	NC_000005.10:g.37153786T>A	ExAC,TOPMed,gnomAD
rs863225152	p.Gln2723Ter	stop gained	-	NC_000005.10:g.37153784G>A	-
RCV000201646	p.Gln2723Ter	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37153784G>A	ClinVar
NCI-TCGA novel	p.Asp2724Val	missense variant	-	NC_000005.10:g.37153780T>A	NCI-TCGA
COSM1067761	p.Phe2725Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37153776G>T	NCI-TCGA Cosmic
rs1469286509	p.Lys2727Asn	missense variant	-	NC_000005.10:g.37153770C>A	gnomAD
rs77014998	p.Pro2728Thr	missense variant	-	NC_000005.10:g.37153769G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000395988	p.Pro2728Thr	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37153769G>T	ClinVar
rs781029281	p.Met2730Ile	missense variant	-	NC_000005.10:g.37153761C>T	ExAC,gnomAD
NCI-TCGA novel	p.Met2730Leu	missense variant	-	NC_000005.10:g.37153763T>G	NCI-TCGA
rs770735282	p.Leu2731Val	missense variant	-	NC_000005.10:g.37153760G>C	ExAC,TOPMed,gnomAD
rs777345649	p.Leu2733Val	missense variant	-	NC_000005.10:g.37153754G>C	ExAC,gnomAD
rs541921016	p.His2734Arg	missense variant	-	NC_000005.10:g.37153750T>C	1000Genomes,ExAC,gnomAD
rs754429808	p.Cys2735Ser	missense variant	-	NC_000005.10:g.37153747C>G	ExAC,gnomAD
rs1222784721	p.Cys2735Ser	missense variant	-	NC_000005.10:g.37153748A>T	TOPMed
rs372318347	p.Ile2738Thr	missense variant	-	NC_000005.10:g.37148267A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile2738Val	missense variant	-	NC_000005.10:g.37148268T>C	NCI-TCGA
COSM345754	p.Asp2742His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37148256C>G	NCI-TCGA Cosmic
rs1435661090	p.Asp2742Gly	missense variant	-	NC_000005.10:g.37148255T>C	gnomAD
rs1375375538	p.His2743Tyr	missense variant	-	NC_000005.10:g.37148253G>A	gnomAD
COSM737888	p.Ile2744Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37148250T>C	NCI-TCGA Cosmic
rs368365632	p.Ile2744Thr	missense variant	-	NC_000005.10:g.37148249A>G	ESP,ExAC,gnomAD
rs1455795556	p.Phe2746Leu	missense variant	-	NC_000005.10:g.37148242G>T	gnomAD
rs1364512527	p.Ser2747Pro	missense variant	-	NC_000005.10:g.37148241A>G	gnomAD
rs377107065	p.Pro2750Ser	missense variant	-	NC_000005.10:g.37148232G>A	ESP,ExAC,TOPMed,gnomAD
rs1278006579	p.Lys2753Asn	missense variant	-	NC_000005.10:g.37148221T>A	TOPMed
rs1188408039	p.Lys2754Glu	missense variant	-	NC_000005.10:g.37148220T>C	gnomAD
RCV000201730	p.Thr2755Ter	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37148223dup	ClinVar
RCV000687643	p.Thr2755Ter	frameshift	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37148223del	ClinVar
rs775263897	p.Thr2755AsnPheSerTerUnk	frameshift	-	NC_000005.10:g.37148216_37148217insT	NCI-TCGA,NCI-TCGA Cosmic
RCV000646711	p.Thr2755Ter	frameshift	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37148216_37148217insC	ClinVar
RCV000201534	p.Thr2755Ter	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37148216_37148217insC	ClinVar
RCV000415331	p.Thr2755Ter	frameshift	Global developmental delay (DD)	NC_000005.10:g.37148223dup	ClinVar
rs140657139	p.Ala2757Val	missense variant	-	NC_000005.10:g.37148210G>A	ESP,ExAC,TOPMed,gnomAD
rs1206876437	p.Lys2759Glu	missense variant	-	NC_000005.10:g.37148205T>C	gnomAD
rs752852852	p.Thr2760Asn	missense variant	-	NC_000005.10:g.37148201G>T	ExAC,gnomAD
rs1284994227	p.Ile2761Val	missense variant	-	NC_000005.10:g.37148199T>C	gnomAD
rs1356986827	p.Ser2762Arg	missense variant	-	NC_000005.10:g.37148194G>C	gnomAD
rs765356032	p.Ser2762Asn	missense variant	-	NC_000005.10:g.37148195C>T	ExAC,gnomAD
rs1293453280	p.Ile2763Val	missense variant	-	NC_000005.10:g.37148193T>C	gnomAD
rs758569421	p.Arg2768Cys	missense variant	-	NC_000005.10:g.37142478G>A	ExAC,TOPMed,gnomAD
rs758569421	p.Arg2768Ser	missense variant	-	NC_000005.10:g.37142478G>T	ExAC,TOPMed,gnomAD
rs752905880	p.Arg2768His	missense variant	-	NC_000005.10:g.37142477C>T	ExAC,gnomAD
rs142316931	p.Thr2771Ile	missense variant	-	NC_000005.10:g.37142468G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1014611980	p.Met2773Val	missense variant	-	NC_000005.10:g.37142463T>C	TOPMed,gnomAD
rs766198617	p.Ser2779Thr	missense variant	-	NC_000005.10:g.37142444C>G	ExAC,TOPMed,gnomAD
rs766198617	p.Ser2779Asn	missense variant	-	NC_000005.10:g.37142444C>T	ExAC,TOPMed,gnomAD
rs1191010738	p.Lys2782Glu	missense variant	-	NC_000005.10:g.37142436T>C	gnomAD
rs370334507	p.Glu2786Lys	missense variant	-	NC_000005.10:g.37142424C>T	ESP,ExAC,TOPMed,gnomAD
rs561289580	p.Ile2791Val	missense variant	-	NC_000005.10:g.37142409T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs773990114	p.Thr2792Ser	missense variant	-	NC_000005.10:g.37142406T>A	ExAC
RCV000403777	p.Glu2793Gln	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37142403C>G	ClinVar
rs886060574	p.Glu2793Gln	missense variant	-	NC_000005.10:g.37142403C>G	-
rs1313782081	p.Glu2793Val	missense variant	-	NC_000005.10:g.37142402T>A	TOPMed
rs768212399	p.Asn2794Lys	missense variant	-	NC_000005.10:g.37142398A>T	ExAC,gnomAD
rs762428272	p.Ser2796Tyr	missense variant	-	NC_000005.10:g.37142393G>T	ExAC,gnomAD
rs778010488	p.Phe2803Ile	missense variant	-	NC_000005.10:g.37142373A>T	ExAC,gnomAD
rs748445168	p.Asp2807Asn	missense variant	-	NC_000005.10:g.37142361C>T	ExAC,TOPMed,gnomAD
rs1477186639	p.Ser2808Ter	stop gained	-	NC_000005.10:g.37142357G>C	TOPMed
rs1477186639	p.Ser2808Leu	missense variant	-	NC_000005.10:g.37142357G>A	TOPMed
rs752341833	p.Ser2811Asn	missense variant	-	NC_000005.10:g.37142348C>T	ExAC,TOPMed,gnomAD
rs755153238	p.Leu2812Pro	missense variant	-	NC_000005.10:g.37142345A>G	ExAC,TOPMed,gnomAD
rs780136856	p.Ser2814Arg	missense variant	-	NC_000005.10:g.37142340T>G	ExAC,gnomAD
rs756020116	p.Ser2814Ile	missense variant	-	NC_000005.10:g.37142339C>A	ExAC,gnomAD
rs780136856	p.Ser2814Cys	missense variant	-	NC_000005.10:g.37142340T>A	ExAC,gnomAD
rs1242922506	p.Ser2816Gly	missense variant	-	NC_000005.10:g.37142334T>C	gnomAD
rs750310066	p.Asp2817Gly	missense variant	-	NC_000005.10:g.37142330T>C	ExAC,gnomAD
rs1451962517	p.Asp2817His	missense variant	-	NC_000005.10:g.37142331C>G	gnomAD
rs1204834796	p.Gln2818Arg	missense variant	-	NC_000005.10:g.37142327T>C	gnomAD
rs563494619	p.Thr2821Ala	missense variant	-	NC_000005.10:g.37142319T>C	1000Genomes,ExAC,gnomAD
rs563494619	p.Thr2821Ser	missense variant	-	NC_000005.10:g.37142319T>A	1000Genomes,ExAC,gnomAD
rs751260970	p.Ser2822Ala	missense variant	-	NC_000005.10:g.37142316A>C	ExAC,gnomAD
rs763705214	p.Ser2822Cys	missense variant	-	NC_000005.10:g.37142315G>C	ExAC,TOPMed,gnomAD
rs991518920	p.Met2825Val	missense variant	-	NC_000005.10:g.37139368T>C	TOPMed,gnomAD
rs1224364424	p.Asn2826Ile	missense variant	-	NC_000005.10:g.37139364T>A	gnomAD
rs1033912985	p.Ser2827Gly	missense variant	-	NC_000005.10:g.37139362T>C	gnomAD
rs1283787523	p.Ser2828Asn	missense variant	-	NC_000005.10:g.37139358C>T	TOPMed
rs1222182691	p.Ser2828Gly	missense variant	-	NC_000005.10:g.37139359T>C	TOPMed
rs1286612650	p.Glu2830Lys	missense variant	-	NC_000005.10:g.37139353C>T	gnomAD
rs139793397	p.Leu2831Phe	missense variant	-	NC_000005.10:g.37139348C>A	ESP,ExAC,TOPMed,gnomAD
rs757083511	p.Glu2833Lys	missense variant	-	NC_000005.10:g.37139344C>T	ExAC,gnomAD
RCV000478868	p.Val2837Ter	frameshift	-	NC_000005.10:g.37138834_37138840delinsAT	ClinVar
NCI-TCGA novel	p.Val2837Ala	missense variant	-	NC_000005.10:g.37138840A>G	NCI-TCGA
VAR_072544	p.Val2837Leu	Missense	Orofaciodigital syndrome 6 (OFD6) [MIM:277170]	-	UniProt
RCV000145385	p.His2838Tyr	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37138838G>A	ClinVar
RCV000290704	p.His2838Tyr	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37138838G>A	ClinVar
rs201404524	p.His2838Tyr	missense variant	-	NC_000005.10:g.37138838G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000382022	p.Pro2839Leu	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37138834G>A	ClinVar
rs147426388	p.Pro2839Gln	missense variant	-	NC_000005.10:g.37138834G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147426388	p.Pro2839Leu	missense variant	-	NC_000005.10:g.37138834G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000646708	p.Pro2839Leu	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37138834G>A	ClinVar
RCV000419680	p.Pro2839Leu	missense variant	-	NC_000005.10:g.37138834G>A	ClinVar
rs752346313	p.Met2842Lys	missense variant	-	NC_000005.10:g.37138825A>T	ExAC,gnomAD
rs752346313	p.Met2842Thr	missense variant	-	NC_000005.10:g.37138825A>G	ExAC,gnomAD
rs1025710972	p.Thr2846Ile	missense variant	-	NC_000005.10:g.37138813G>A	TOPMed
rs539409643	p.Asp2847Asn	missense variant	-	NC_000005.10:g.37138811C>T	1000Genomes,ExAC,gnomAD
rs1219639210	p.Ala2849Ser	missense variant	-	NC_000005.10:g.37138805C>A	gnomAD
rs754550865	p.Ala2849Val	missense variant	-	NC_000005.10:g.37138804G>A	ExAC,gnomAD
rs144427399	p.Asp2850Gly	missense variant	-	NC_000005.10:g.37138801T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1213953764	p.Asp2850Glu	missense variant	-	NC_000005.10:g.37138800G>C	gnomAD
RCV000325059	p.Asp2850Gly	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37138801T>C	ClinVar
rs1464182324	p.Ile2851Val	missense variant	-	NC_000005.10:g.37138799T>C	TOPMed
rs1305021238	p.Ile2852Val	missense variant	-	NC_000005.10:g.37138796T>C	gnomAD
rs765933233	p.Ile2852Thr	missense variant	-	NC_000005.10:g.37138795A>G	ExAC,gnomAD
rs1254666516	p.Leu2855Phe	missense variant	-	NC_000005.10:g.37138787G>A	TOPMed
rs1463191144	p.Ile2857Asn	missense variant	-	NC_000005.10:g.37138780A>T	gnomAD
rs1291503086	p.Ile2857Val	missense variant	-	NC_000005.10:g.37138781T>C	gnomAD
rs1356697325	p.Lys2858Glu	missense variant	-	NC_000005.10:g.37138778T>C	TOPMed,gnomAD
rs1356697325	p.Lys2858Ter	stop gained	-	NC_000005.10:g.37138778T>A	TOPMed,gnomAD
rs764611797	p.Gly2860Arg	missense variant	-	NC_000005.10:g.37138772C>T	ExAC,TOPMed,gnomAD
rs1388792860	p.Val2861Leu	missense variant	-	NC_000005.10:g.37138769C>G	gnomAD
rs1454812528	p.Ser2862Cys	missense variant	-	NC_000005.10:g.37138765G>C	TOPMed,gnomAD
rs139554617	p.Ser2862Pro	missense variant	-	NC_000005.10:g.37138766A>G	ESP,ExAC,TOPMed,gnomAD
rs775613776	p.Ser2863Gly	missense variant	-	NC_000005.10:g.37138763T>C	ExAC,TOPMed,gnomAD
rs770084934	p.Ser2863Arg	missense variant	-	NC_000005.10:g.37138761A>T	ExAC,TOPMed,gnomAD
rs1481722112	p.Leu2866Phe	missense variant	-	NC_000005.10:g.37138754G>A	gnomAD
rs553622028	p.Gly2867Ser	missense variant	-	NC_000005.10:g.37138751C>T	1000Genomes,ExAC,gnomAD
RCV000432168	p.Glu2870Ter	nonsense	-	NC_000005.10:g.37138742C>A	ClinVar
rs863225155	p.Glu2870Ter	stop gained	-	NC_000005.10:g.37138742C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ala2872Thr	missense variant	-	NC_000005.10:g.37138736C>T	NCI-TCGA
RCV000646720	p.Met2873Val	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37138733T>C	ClinVar
rs143626904	p.Met2873Val	missense variant	-	NC_000005.10:g.37138733T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000178585	p.Met2873Val	missense variant	-	NC_000005.10:g.37138733T>C	ClinVar
COSM4816663	p.Gly2874Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37138729C>T	NCI-TCGA Cosmic
rs953624404	p.Arg2877Gly	missense variant	-	NC_000005.10:g.37138721T>C	TOPMed,gnomAD
rs760841610	p.Gln2879Lys	missense variant	-	NC_000005.10:g.37125405G>T	ExAC,TOPMed,gnomAD
rs760841610	p.Gln2879Ter	stop gained	-	NC_000005.10:g.37125405G>A	ExAC,TOPMed,gnomAD
rs1014698599	p.His2880Leu	missense variant	-	NC_000005.10:g.37125401T>A	TOPMed
rs1014698599	p.His2880Arg	missense variant	-	NC_000005.10:g.37125401T>C	TOPMed
rs1449414767	p.Tyr2881Asp	missense variant	-	NC_000005.10:g.37125399A>C	TOPMed
rs773296645	p.Ser2886Leu	missense variant	-	NC_000005.10:g.37125383G>A	ExAC,TOPMed,gnomAD
rs1376344855	p.Gln2887Ter	stop gained	-	NC_000005.10:g.37125381G>A	TOPMed
rs1227285224	p.Arg2888Ser	missense variant	-	NC_000005.10:g.37125376T>G	TOPMed
COSM3615969	p.Thr2889Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37125375T>C	NCI-TCGA Cosmic
rs778535345	p.Thr2889Ile	missense variant	-	NC_000005.10:g.37125374G>A	ExAC,TOPMed,gnomAD
RCV000378615	p.Asp2890His	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37125372C>G	ClinVar
rs761880579	p.Asp2890His	missense variant	-	NC_000005.10:g.37125372C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp2890Asn	missense variant	-	NC_000005.10:g.37125372C>T	NCI-TCGA
rs774142742	p.Lys2891Arg	missense variant	-	NC_000005.10:g.37125368T>C	ExAC,gnomAD
rs1257200720	p.Glu2892Gly	missense variant	-	NC_000005.10:g.37125365T>C	TOPMed
rs757658944	p.Arg2893Lys	missense variant	-	NC_000005.10:g.37125362C>T	ExAC,TOPMed,gnomAD
rs1366512924	p.Arg2893Ser	missense variant	-	NC_000005.10:g.37125361T>A	gnomAD
COSM4853434	p.Arg2894Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37125359C>G	NCI-TCGA Cosmic
rs769590748	p.Arg2894Gly	missense variant	-	NC_000005.10:g.37125360T>C	ExAC,gnomAD
NCI-TCGA novel	p.Arg2894Ile	missense variant	-	NC_000005.10:g.37125359C>A	NCI-TCGA
rs1235702604	p.Ile2896Thr	missense variant	-	NC_000005.10:g.37125353A>G	TOPMed
rs1482303814	p.Trp2899Ter	stop gained	-	NC_000005.10:g.37125344C>T	TOPMed
RCV000785944	p.Trp2899Ter	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37125344C>T	ClinVar
COSM3828023	p.Met2900Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37125340C>T	NCI-TCGA Cosmic
rs993541635	p.Met2900Lys	missense variant	-	NC_000005.10:g.37125341A>T	TOPMed
rs1396778803	p.Arg2902Ser	missense variant	-	NC_000005.10:g.37125334T>A	gnomAD
RCV000523918	p.Arg2904Ter	nonsense	-	NC_000005.10:g.37125330G>A	ClinVar
rs141507441	p.Arg2904Ter	stop gained	-	NC_000005.10:g.37125330G>A	ESP,ExAC,TOPMed,gnomAD
rs533791946	p.Arg2904Gln	missense variant	-	NC_000005.10:g.37125329C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000201591	p.Arg2904Ter	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37125330G>A	ClinVar
RCV000201530	p.Glu2906Ter	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37125324C>A	ClinVar
rs863225153	p.Glu2906Ter	stop gained	-	NC_000005.10:g.37125324C>A	-
rs1388357376	p.Glu2906Gly	missense variant	-	NC_000005.10:g.37125323T>C	gnomAD
COSM1067749	p.Arg2907TrpPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.37125318_37125321TTCT>-	NCI-TCGA Cosmic
rs756716882	p.Arg2907Gly	missense variant	-	NC_000005.10:g.37125321T>C	ExAC,gnomAD
rs753301470	p.Met2908Thr	missense variant	-	NC_000005.10:g.37125317A>G	ExAC,TOPMed,gnomAD
RCV000201559	p.Ala2909Ter	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37125316del	ClinVar
rs374005945	p.Tyr2911Cys	missense variant	-	NC_000005.10:g.37125308T>C	ExAC,TOPMed,gnomAD
rs1455247765	p.Leu2915Met	missense variant	-	NC_000005.10:g.37125297G>T	gnomAD
rs1178837081	p.Leu2915Pro	missense variant	-	NC_000005.10:g.37125296A>G	TOPMed
rs1192066775	p.Ala2916Glu	missense variant	-	NC_000005.10:g.37125293G>T	gnomAD
rs369585190	p.Ala2916Thr	missense variant	-	NC_000005.10:g.37125294C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs776510943	p.Gly2920Val	missense variant	-	NC_000005.10:g.37125281C>A	TOPMed,gnomAD
rs776510943	p.Gly2920Glu	missense variant	-	NC_000005.10:g.37125281C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Glu2922Val	missense variant	-	NC_000005.10:g.37125275T>A	NCI-TCGA
rs1288213208	p.Glu2922Lys	missense variant	-	NC_000005.10:g.37125276C>T	gnomAD
rs767695592	p.His2923Arg	missense variant	-	NC_000005.10:g.37125272T>C	ExAC,TOPMed,gnomAD
rs547705616	p.His2923Tyr	missense variant	-	NC_000005.10:g.37125273G>A	1000Genomes,ExAC,gnomAD
COSM737890	p.Pro2925Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37125266G>A	NCI-TCGA Cosmic
rs113008648	p.Pro2925His	missense variant	-	NC_000005.10:g.37125266G>T	gnomAD
rs1275477780	p.Pro2928Ser	missense variant	-	NC_000005.10:g.37125258G>A	gnomAD
RCV000646712	p.Arg2929Ter	nonsense	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37125255T>A	ClinVar
rs1345413118	p.Arg2929Ter	stop gained	-	NC_000005.10:g.37125255T>A	TOPMed
rs1345413118	p.Arg2929Gly	missense variant	-	NC_000005.10:g.37125255T>C	TOPMed
rs1436064006	p.Ser2930Thr	missense variant	-	NC_000005.10:g.37125251C>G	gnomAD
NCI-TCGA novel	p.Asn2931Lys	missense variant	-	NC_000005.10:g.37125247A>C	NCI-TCGA
rs774388863	p.Asn2931Ser	missense variant	-	NC_000005.10:g.37125248T>C	ExAC,gnomAD
rs1330650709	p.Asn2931Asp	missense variant	-	NC_000005.10:g.37125249T>C	gnomAD
rs201423077	p.Pro2932Leu	missense variant	-	NC_000005.10:g.37125245G>A	ExAC,gnomAD
COSM482787	p.Leu2933Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37122487A>G	NCI-TCGA Cosmic
rs775563318	p.Met2935Leu	missense variant	-	NC_000005.10:g.37122482T>G	ExAC,TOPMed,gnomAD
rs775563318	p.Met2935Val	missense variant	-	NC_000005.10:g.37122482T>C	ExAC,TOPMed,gnomAD
rs1469826743	p.Arg2938Lys	missense variant	-	NC_000005.10:g.37122472C>T	TOPMed
rs1210023199	p.Arg2938Gly	missense variant	-	NC_000005.10:g.37122473T>C	gnomAD
rs759378976	p.Ile2940Thr	missense variant	-	NC_000005.10:g.37122466A>G	ExAC,gnomAD
rs1229286937	p.Arg2941Thr	missense variant	-	NC_000005.10:g.37122463C>G	gnomAD
rs924779439	p.Arg2941Ser	missense variant	-	NC_000005.10:g.37122462C>A	TOPMed,gnomAD
rs1234849009	p.Gln2944Glu	missense variant	-	NC_000005.10:g.37122455G>C	gnomAD
rs1379815651	p.Lys2945Glu	missense variant	-	NC_000005.10:g.37122452T>C	gnomAD
RCV000545225	p.Lys2945Ter	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37122454del	ClinVar
rs148987541	p.Met2946Thr	missense variant	-	NC_000005.10:g.37122448A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs374386158	p.Glu2949Lys	missense variant	-	NC_000005.10:g.37122440C>T	ESP,ExAC,TOPMed,gnomAD
RCV000764605	p.Arg2952Gly	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37122431T>C	ClinVar
RCV000426156	p.Arg2952Gly	missense variant	-	NC_000005.10:g.37122431T>C	ClinVar
RCV000263974	p.Arg2952Gly	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37122431T>C	ClinVar
rs116198390	p.Arg2952Gly	missense variant	-	NC_000005.10:g.37122431T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1327570168	p.Leu2954Pro	missense variant	-	NC_000005.10:g.37121779A>G	gnomAD
rs758537775	p.Leu2955Phe	missense variant	-	NC_000005.10:g.37121777G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser2956Phe	missense variant	-	NC_000005.10:g.37121773G>A	NCI-TCGA
rs200358545	p.Glu2957Lys	missense variant	-	NC_000005.10:g.37121771C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200358545	p.Glu2957Gln	missense variant	-	NC_000005.10:g.37121771C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs753593935	p.His2958Leu	missense variant	-	NC_000005.10:g.37121767T>A	ExAC,TOPMed,gnomAD
rs753593935	p.His2958Arg	missense variant	-	NC_000005.10:g.37121767T>C	ExAC,TOPMed,gnomAD
rs143453963	p.Tyr2959Cys	missense variant	-	NC_000005.10:g.37121764T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs781525957	p.TyrSer2959Ter	stop gained	-	NC_000005.10:g.37121764_37121765del	ExAC
rs760313941	p.Ser2960Cys	missense variant	-	NC_000005.10:g.37121762T>A	ExAC,TOPMed,gnomAD
rs771622959	p.Arg2961His	missense variant	-	NC_000005.10:g.37121758C>T	ExAC,TOPMed,gnomAD
rs138862600	p.Arg2961Cys	missense variant	-	NC_000005.10:g.37121759G>A	ESP,ExAC,TOPMed,gnomAD
rs1264659510	p.Arg2962Gln	missense variant	-	NC_000005.10:g.37121755C>T	TOPMed,gnomAD
rs150242262	p.Arg2962Ter	stop gained	-	NC_000005.10:g.37121756G>A	ESP,ExAC,TOPMed,gnomAD
rs1219035432	p.Ile2963Phe	missense variant	-	NC_000005.10:g.37121753T>A	gnomAD
rs1204050098	p.Ala2966Thr	missense variant	-	NC_000005.10:g.37121744C>T	TOPMed
rs1227556127	p.Ala2966Val	missense variant	-	NC_000005.10:g.37121743G>A	gnomAD
NCI-TCGA novel	p.Tyr2967Ter	stop gained	-	NC_000005.10:g.37121739_37121740insCCCAGTTATGCTCATTCAGCTGTAGCTACTAT	NCI-TCGA
rs540797695	p.Gly2968Ser	missense variant	-	NC_000005.10:g.37121738C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs540797695	p.Gly2968Cys	missense variant	-	NC_000005.10:g.37121738C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs921440177	p.Met2970Ile	missense variant	-	NC_000005.10:g.37121730C>T	TOPMed
rs573500656	p.Asn2971Lys	missense variant	-	NC_000005.10:g.37121727A>T	1000Genomes
NCI-TCGA novel	p.Glu2972AspPheSerTerUnkUnk	frameshift	-	NC_000005.10:g.37121724T>-	NCI-TCGA
rs771321110	p.Leu2973Pro	missense variant	-	NC_000005.10:g.37121722A>G	ExAC,gnomAD
RCV000178670	p.Ser2975Ter	frameshift	-	NC_000005.10:g.37121717del	ClinVar
COSM256062	p.Ser2977Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37121710G>A	NCI-TCGA Cosmic
rs1388428909	p.Gln2979Arg	missense variant	-	NC_000005.10:g.37121704T>C	gnomAD
rs1189688089	p.Thr2982Ala	missense variant	-	NC_000005.10:g.37121696T>C	gnomAD
rs779085289	p.Pro2984Gln	missense variant	-	NC_000005.10:g.37121689G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro2987Leu	missense variant	-	NC_000005.10:g.37121680G>A	NCI-TCGA
rs1204398118	p.Leu2988Ser	missense variant	-	NC_000005.10:g.37121677A>G	gnomAD
rs766147646	p.Pro2992Leu	missense variant	-	NC_000005.10:g.37121665G>A	ExAC,gnomAD
rs1298825292	p.Ser2993Arg	missense variant	-	NC_000005.10:g.37121661G>T	gnomAD
rs767189816	p.Thr2995Ile	missense variant	-	NC_000005.10:g.37121656G>A	ExAC,TOPMed,gnomAD
rs1348541209	p.Gln2996Arg	missense variant	-	NC_000005.10:g.37121653T>C	gnomAD
COSM3615967	p.Ser2997Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37121650G>A	NCI-TCGA Cosmic
rs557372169	p.Ser2998Cys	missense variant	-	NC_000005.10:g.37121647G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1466675239	p.His3002Asp	missense variant	-	NC_000005.10:g.37121636G>C	gnomAD
rs1174281544	p.Cys3003Tyr	missense variant	-	NC_000005.10:g.37121632C>T	TOPMed,gnomAD
rs1174281544	p.Cys3003Phe	missense variant	-	NC_000005.10:g.37121632C>A	TOPMed,gnomAD
rs760027584	p.Cys3003Gly	missense variant	-	NC_000005.10:g.37121633A>C	ExAC,gnomAD
rs919902868	p.Pro3004Ala	missense variant	-	NC_000005.10:g.37121630G>C	TOPMed,gnomAD
rs1412478483	p.Pro3004Arg	missense variant	-	NC_000005.10:g.37121629G>C	gnomAD
rs919902868	p.Pro3004Thr	missense variant	-	NC_000005.10:g.37121630G>T	TOPMed,gnomAD
rs1181129895	p.Pro3006Ala	missense variant	-	NC_000005.10:g.37121624G>C	gnomAD
NCI-TCGA novel	p.Arg3007Lys	missense variant	-	NC_000005.10:g.37121620C>T	NCI-TCGA
rs777181922	p.Gly3008Glu	missense variant	-	NC_000005.10:g.37121617C>T	ExAC,gnomAD
rs763568516	p.His3012Arg	missense variant	-	NC_000005.10:g.37120329T>C	ExAC,gnomAD
rs1437287502	p.His3014Arg	missense variant	-	NC_000005.10:g.37120323T>C	gnomAD
rs1366020937	p.Ser3015Gly	missense variant	-	NC_000005.10:g.37120321T>C	gnomAD
rs762501521	p.Ser3015Asn	missense variant	-	NC_000005.10:g.37120320C>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu3017Ile	missense variant	-	NC_000005.10:g.37120315G>T	NCI-TCGA
rs766937227	p.Ile3018Arg	missense variant	-	NC_000005.10:g.37120311A>C	ExAC,gnomAD
rs761211263	p.Asn3019Lys	missense variant	-	NC_000005.10:g.37120307A>C	ExAC,TOPMed,gnomAD
rs772495694	p.Arg3020Gln	missense variant	-	NC_000005.10:g.37120305C>T	ExAC,gnomAD
RCV000357854	p.Arg3020Ter	nonsense	-	NC_000005.10:g.37120306G>A	ClinVar
RCV000201669	p.Arg3020Ter	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37120306G>A	ClinVar
RCV000697060	p.Arg3020Ter	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37120306G>A	ClinVar
rs374144275	p.Arg3020Ter	stop gained	-	NC_000005.10:g.37120306G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs376064818	p.Gly3022Ala	missense variant	-	NC_000005.10:g.37120299C>G	ESP,ExAC,TOPMed,gnomAD
rs376064818	p.Gly3022Glu	missense variant	-	NC_000005.10:g.37120299C>T	ESP,ExAC,TOPMed,gnomAD
rs369676478	p.Gly3022Arg	missense variant	-	NC_000005.10:g.37120300C>T	ESP,ExAC,TOPMed,gnomAD
rs1246855644	p.Lys3023Asn	missense variant	-	NC_000005.10:g.37120295T>A	TOPMed,gnomAD
rs1186324419	p.Lys3025Glu	missense variant	-	NC_000005.10:g.37120291T>C	gnomAD
rs768661673	p.Tyr3026Cys	missense variant	-	NC_000005.10:g.37120287T>C	ExAC,gnomAD
rs1210751950	p.Met3027Thr	missense variant	-	NC_000005.10:g.37120284A>G	gnomAD
rs545791930	p.Ser3028Ala	missense variant	-	NC_000005.10:g.37120282A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs545791930	p.Ser3028Thr	missense variant	-	NC_000005.10:g.37120282A>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM3919996	p.Pro3030Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37120276G>A	NCI-TCGA Cosmic
rs745740741	p.Pro3030Leu	missense variant	-	NC_000005.10:g.37120275G>A	ExAC,gnomAD
rs767489407	p.Tyr3032Cys	missense variant	-	NC_000005.10:g.37120269T>C	gnomAD
rs757032050	p.Ile3033Met	missense variant	-	NC_000005.10:g.37120265G>C	ExAC,gnomAD
rs547370426	p.His3034Arg	missense variant	-	NC_000005.10:g.37120263T>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000353311	p.His3034Arg	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37120263T>C	ClinVar
rs1479213208	p.Lys3035Asn	missense variant	-	NC_000005.10:g.37120259C>A	TOPMed
COSM737892	p.Ser3038Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37120252A>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser3038Tyr	missense variant	-	NC_000005.10:g.37120251G>T	NCI-TCGA
rs1363467509	p.Phe3039Ser	missense variant	-	NC_000005.10:g.37120248A>G	TOPMed,gnomAD
rs1386068597	p.Phe3039Leu	missense variant	-	NC_000005.10:g.37120249A>G	gnomAD
rs763770473	p.Phe3039Leu	missense variant	-	NC_000005.10:g.37120247A>C	ExAC,gnomAD
rs1458270148	p.Gly3040Glu	missense variant	-	NC_000005.10:g.37120245C>T	TOPMed
NCI-TCGA novel	p.Gln3041Ter	stop gained	-	NC_000005.10:g.37120243G>A	NCI-TCGA
rs752271088	p.Gln3043Glu	missense variant	-	NC_000005.10:g.37120237G>C	ExAC,gnomAD
rs764590602	p.Gly3044Arg	missense variant	-	NC_000005.10:g.37120234C>G	ExAC,gnomAD
rs761266412	p.Ser3045Leu	missense variant	-	NC_000005.10:g.37120230G>A	ExAC,gnomAD
COSM482785	p.Pro3046Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37120227G>C	NCI-TCGA Cosmic
rs773845456	p.Pro3046Ala	missense variant	-	NC_000005.10:g.37120228G>C	ExAC,gnomAD
rs1197722149	p.Pro3046Leu	missense variant	-	NC_000005.10:g.37120227G>A	gnomAD
rs762241209	p.Trp3047Ter	stop gained	-	NC_000005.10:g.37120224C>T	ExAC,gnomAD
COSM1437321	p.Pro3048Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37120222G>A	NCI-TCGA Cosmic
rs1207975219	p.Pro3048Leu	missense variant	-	NC_000005.10:g.37120221G>A	TOPMed,gnomAD
rs1207975219	p.Pro3048Arg	missense variant	-	NC_000005.10:g.37120221G>C	TOPMed,gnomAD
rs145378102	p.His3049Tyr	missense variant	-	NC_000005.10:g.37120219G>A	ESP,ExAC,TOPMed,gnomAD
rs1274026508	p.His3049Arg	missense variant	-	NC_000005.10:g.37120218T>C	gnomAD
rs1279382736	p.Thr3053Ala	missense variant	-	NC_000005.10:g.37115041T>C	gnomAD
COSM3855057	p.Phe3054Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37115038A>C	NCI-TCGA Cosmic
rs768173950	p.Gln3057Arg	missense variant	-	NC_000005.10:g.37115028T>C	ExAC,TOPMed,gnomAD
rs1228711864	p.Lys3058Arg	missense variant	-	NC_000005.10:g.37115025T>C	gnomAD
rs368603190	p.Lys3059Asn	missense variant	-	NC_000005.10:g.37115021T>A	ESP,ExAC,TOPMed,gnomAD
rs1349649894	p.Lys3059Arg	missense variant	-	NC_000005.10:g.37115022T>C	gnomAD
NCI-TCGA novel	p.Ala3060SerPheSerTerUnkUnk	frameshift	-	NC_000005.10:g.37115020_37115021insT	NCI-TCGA
COSM1311131	p.Gly3062Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37115013C>A	NCI-TCGA Cosmic
RCV000314718	p.Gly3062Arg	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37115014C>T	ClinVar
rs7702892	p.Gly3062Arg	missense variant	-	NC_000005.10:g.37115014C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1332890054	p.Arg3068Lys	missense variant	-	NC_000005.10:g.37114995C>T	gnomAD
rs764300212	p.Arg3068Gly	missense variant	-	NC_000005.10:g.37114996T>C	ExAC,TOPMed,gnomAD
rs372396805	p.Ala3070Val	missense variant	-	NC_000005.10:g.37114989G>A	ESP,ExAC,TOPMed,gnomAD
rs1185646161	p.Thr3071Ala	missense variant	-	NC_000005.10:g.37114987T>C	TOPMed
rs775560336	p.Thr3071Met	missense variant	-	NC_000005.10:g.37114986G>A	ExAC,TOPMed,gnomAD
rs759580516	p.Gln3072Ter	stop gained	-	NC_000005.10:g.37114984G>A	ExAC,gnomAD
rs1171652500	p.Gln3072Arg	missense variant	-	NC_000005.10:g.37114983T>C	TOPMed
rs1374830797	p.Ser3073Cys	missense variant	-	NC_000005.10:g.37114980G>C	TOPMed
rs975378346	p.Pro3074Ala	missense variant	-	NC_000005.10:g.37114978G>C	TOPMed
rs1319142896	p.Pro3074Leu	missense variant	-	NC_000005.10:g.37114977G>A	TOPMed
rs1347117644	p.Val3075Ala	missense variant	-	NC_000005.10:g.37114974A>G	TOPMed
rs1407685518	p.Thr3076Ala	missense variant	-	NC_000005.10:g.37114972T>C	gnomAD
rs554956977	p.Thr3076Ile	missense variant	-	NC_000005.10:g.37114971G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs554956977	p.Thr3076Asn	missense variant	-	NC_000005.10:g.37114971G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs770872753	p.Gln3078Arg	missense variant	-	NC_000005.10:g.37114965T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln3078His	missense variant	-	NC_000005.10:g.37114964T>G	NCI-TCGA
rs774240051	p.Gly3080Val	missense variant	-	NC_000005.10:g.37108471C>A	ExAC,gnomAD
rs746860595	p.Gly3080Ser	missense variant	-	NC_000005.10:g.37114960C>T	ExAC,gnomAD
rs774240051	p.Gly3080Asp	missense variant	-	NC_000005.10:g.37108471C>T	ExAC,gnomAD
COSM3828021	p.Ser3081Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37108468G>C	NCI-TCGA Cosmic
rs538381493	p.Asn3082Lys	missense variant	-	NC_000005.10:g.37108464A>T	1000Genomes,ExAC,gnomAD
COSM2688117	p.Pro3084Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37108460G>A	NCI-TCGA Cosmic
rs747597826	p.Pro3084Leu	missense variant	-	NC_000005.10:g.37108459G>A	ExAC,TOPMed,gnomAD
rs144467995	p.Pro3084Ala	missense variant	-	NC_000005.10:g.37108460G>C	ESP,ExAC,TOPMed,gnomAD
rs747597826	p.Pro3084Gln	missense variant	-	NC_000005.10:g.37108459G>T	ExAC,TOPMed,gnomAD
rs1417559748	p.Cys3085Arg	missense variant	-	NC_000005.10:g.37108457A>G	gnomAD
rs1193137338	p.His3086Pro	missense variant	-	NC_000005.10:g.37108453T>G	gnomAD
rs371000717	p.Ser3087Ile	missense variant	-	NC_000005.10:g.37108450C>A	ESP,TOPMed,gnomAD
rs941718545	p.Ser3087Gly	missense variant	-	NC_000005.10:g.37108451T>C	gnomAD
rs1483973488	p.Leu3088Pro	missense variant	-	NC_000005.10:g.37108447A>G	gnomAD
rs755197162	p.Gln3089Ter	stop gained	-	NC_000005.10:g.37108445G>A	ExAC,gnomAD
rs755197162	p.Gln3089Lys	missense variant	-	NC_000005.10:g.37108445G>T	ExAC,gnomAD
rs1219414305	p.His3090Gln	missense variant	-	NC_000005.10:g.37108440A>T	gnomAD
rs754053320	p.His3090Arg	missense variant	-	NC_000005.10:g.37108441T>C	ExAC,TOPMed,gnomAD
rs766501293	p.Thr3091Ala	missense variant	-	NC_000005.10:g.37108439T>C	ExAC,gnomAD
rs1302870757	p.Thr3091Ile	missense variant	-	NC_000005.10:g.37108438G>A	TOPMed,gnomAD
rs1302870757	p.Thr3091Lys	missense variant	-	NC_000005.10:g.37108438G>T	TOPMed,gnomAD
rs1372872191	p.Lys3092Arg	missense variant	-	NC_000005.10:g.37108435T>C	gnomAD
COSM1437319	p.Lys3093AsnPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.37108431T>-	NCI-TCGA Cosmic
COSM5978970	p.His3094ThrPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.37108430_37108431insT	NCI-TCGA Cosmic
rs773303691	p.His3094Arg	missense variant	-	NC_000005.10:g.37108429T>C	ExAC,gnomAD
rs760642862	p.His3094Tyr	missense variant	-	NC_000005.10:g.37108430G>A	ExAC,gnomAD
rs148666740	p.Gly3095Glu	missense variant	-	NC_000005.10:g.37108426C>T	ESP,gnomAD
NCI-TCGA novel	p.Ser3096Thr	missense variant	-	NC_000005.10:g.37108423C>G	NCI-TCGA
RCV000514597	p.Gly3098Arg	missense variant	-	NC_000005.10:g.37108418C>T	ClinVar
rs144081297	p.Gly3098Arg	missense variant	-	NC_000005.10:g.37108418C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000417768	p.Gly3098Arg	missense variant	-	NC_000005.10:g.37108418C>T	ClinVar
rs1428377660	p.Leu3099Phe	missense variant	-	NC_000005.10:g.37108415G>A	gnomAD
rs774297305	p.Gln3102Glu	missense variant	-	NC_000005.10:g.37108406G>C	ExAC,gnomAD
rs768570313	p.Gln3102Arg	missense variant	-	NC_000005.10:g.37108405T>C	ExAC,TOPMed,gnomAD
rs1222002652	p.Arg3112Gly	missense variant	-	NC_000005.10:g.37108376T>C	gnomAD
rs1289574396	p.Thr3115Ser	missense variant	-	NC_000005.10:g.37108366G>C	gnomAD
rs1394451975	p.Val3116Met	missense variant	-	NC_000005.10:g.37108364C>T	gnomAD
NCI-TCGA novel	p.Pro3119Ser	missense variant	-	NC_000005.10:g.37108355G>A	NCI-TCGA
rs587783354	p.Thr3121Met	missense variant	-	NC_000005.10:g.37108348G>A	ExAC,TOPMed,gnomAD
RCV000145389	p.Thr3121Met	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37108348G>A	ClinVar
rs1405549842	p.Pro3123Ser	missense variant	-	NC_000005.10:g.37108343G>A	gnomAD
rs144698212	p.His3127Arg	missense variant	-	NC_000005.10:g.37108330T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs144698212	p.His3127Pro	missense variant	-	NC_000005.10:g.37108330T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs748587449	p.His3127Tyr	missense variant	-	NC_000005.10:g.37108331G>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu3130Ile	missense variant	-	NC_000005.10:g.37108322G>T	NCI-TCGA
rs373643291	p.His3131Leu	missense variant	-	NC_000005.10:g.37108318T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs373643291	p.His3131Pro	missense variant	-	NC_000005.10:g.37108318T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser3133Ile	missense variant	-	NC_000005.10:g.37108312C>A	NCI-TCGA
rs756312234	p.Ser3133Asn	missense variant	-	NC_000005.10:g.37108312C>T	ExAC,gnomAD
rs917196481	p.His3134Arg	missense variant	-	NC_000005.10:g.37108309T>C	TOPMed
rs1257693653	p.Asn3135Asp	missense variant	-	NC_000005.10:g.37108307T>C	TOPMed,gnomAD
rs1257693653	p.Asn3135Tyr	missense variant	-	NC_000005.10:g.37108307T>A	TOPMed,gnomAD
rs886060572	p.Leu3138Val	missense variant	-	NC_000005.10:g.37108298G>C	TOPMed
RCV000394029	p.Leu3138Val	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37108298G>C	ClinVar
rs968530806	p.Asp3140Asn	missense variant	-	NC_000005.10:g.37107778C>T	TOPMed
rs1247311236	p.Asp3140Gly	missense variant	-	NC_000005.10:g.37107777T>C	gnomAD
rs780408914	p.Leu3141Ser	missense variant	-	NC_000005.10:g.37107774A>G	ExAC,TOPMed,gnomAD
rs1355287428	p.Pro3143Thr	missense variant	-	NC_000005.10:g.37107769G>T	TOPMed
rs1437586068	p.Thr3144Ala	missense variant	-	NC_000005.10:g.37107766T>C	TOPMed,gnomAD
rs1380367906	p.Glu3150Gly	missense variant	-	NC_000005.10:g.37107747T>C	gnomAD
rs1317390469	p.Glu3150Ter	stop gained	-	NC_000005.10:g.37107748C>A	gnomAD
COSM3615965	p.Pro3152Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37107742G>A	NCI-TCGA Cosmic
rs1392607136	p.Val3155Met	missense variant	-	NC_000005.10:g.37107733C>T	gnomAD
rs750657907	p.Gly3157Ser	missense variant	-	NC_000005.10:g.37107727C>T	ExAC,TOPMed,gnomAD
rs1353383169	p.Gly3157Asp	missense variant	-	NC_000005.10:g.37107726C>T	gnomAD
rs1278842470	p.Val3158Met	missense variant	-	NC_000005.10:g.37107724C>T	TOPMed
RCV000368416	p.Val3158Ter	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37107725dup	ClinVar
NCI-TCGA novel	p.Asp3159Gly	missense variant	-	NC_000005.10:g.37107720T>C	NCI-TCGA
rs757393817	p.Val3161Met	missense variant	-	NC_000005.10:g.37107715C>T	ExAC,TOPMed,gnomAD
COSM6103733	p.Thr3165Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37107703T>G	NCI-TCGA Cosmic
rs868031510	p.Gly3166Val	missense variant	-	NC_000005.10:g.37107699C>A	gnomAD
rs868031510	p.Gly3166Asp	missense variant	-	NC_000005.10:g.37107699C>T	gnomAD
rs1445678153	p.Gly3166Cys	missense variant	-	NC_000005.10:g.37107700C>A	gnomAD
rs1230624615	p.Lys3171Arg	missense variant	-	NC_000005.10:g.37107684T>C	gnomAD
rs762932228	p.Lys3171Glu	missense variant	-	NC_000005.10:g.37107685T>C	ExAC,gnomAD
rs374776325	p.Asp3173Tyr	missense variant	-	NC_000005.10:g.37107679C>A	ESP,ExAC,TOPMed,gnomAD
rs759178721	p.Trp3174Ter	stop gained	-	NC_000005.10:g.37107674C>T	ExAC,gnomAD
rs577380148	p.Trp3174Arg	missense variant	-	NC_000005.10:g.37107676A>G	1000Genomes
rs759178721	p.Trp3174Cys	missense variant	-	NC_000005.10:g.37107674C>G	ExAC,gnomAD
rs1421414177	p.Ala3176Ser	missense variant	-	NC_000005.10:g.37107670C>A	TOPMed
RCV000537824	p.Ala3176Ser	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37107670C>A	ClinVar
rs1004303690	p.Ile3177Val	missense variant	-	NC_000005.10:g.37107667T>C	TOPMed
rs1332636319	p.Ile3177Met	missense variant	-	NC_000005.10:g.37107665G>C	TOPMed,gnomAD
rs372215544	p.Glu3178Lys	missense variant	-	NC_000005.10:g.37107664C>T	ESP,ExAC,TOPMed,gnomAD
rs770395082	p.Met3180Val	missense variant	-	NC_000005.10:g.37107658T>C	ExAC,TOPMed,gnomAD
rs770395082	p.Met3180Leu	missense variant	-	NC_000005.10:g.37107658T>A	ExAC,TOPMed,gnomAD
rs760144874	p.Val3181Glu	missense variant	-	NC_000005.10:g.37107654A>T	ExAC,gnomAD
rs772662201	p.Ala3182Thr	missense variant	-	NC_000005.10:g.37107652C>T	ExAC,gnomAD
rs769165676	p.Ser3183Gly	missense variant	-	NC_000005.10:g.37107649T>C	ExAC
rs780349375	p.Val3184Met	missense variant	-	NC_000005.10:g.37107646C>T	ExAC,TOPMed,gnomAD
rs1280596879	p.Glu3185Gly	missense variant	-	NC_000005.10:g.37107642T>C	TOPMed
rs781448726	p.Ser3190Cys	missense variant	-	NC_000005.10:g.37107627G>C	ExAC
rs781448726	p.Ser3190Phe	missense variant	-	NC_000005.10:g.37107627G>A	ExAC
rs368852403	p.Ser3190Ala	missense variant	-	NC_000005.10:g.37107628A>C	ESP,ExAC,TOPMed,gnomAD
rs368852403	p.Ser3190Pro	missense variant	-	NC_000005.10:g.37107628A>G	ESP,ExAC,TOPMed,gnomAD
COSM4999884	p.His3192Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37107622G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Trp3193Leu	missense variant	-	NC_000005.10:g.37107618C>A	NCI-TCGA
rs375441199	p.Ala3194Thr	missense variant	-	NC_000005.10:g.37107616C>T	ESP,ExAC,TOPMed,gnomAD
rs375441199	p.Ala3194Ser	missense variant	-	NC_000005.10:g.37107616C>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp3196Asn	missense variant	-	NC_000005.10:g.37107610C>T	NCI-TCGA
rs1267447258	p.Ter3198Gln	stop lost	-	NC_000005.10:g.37107604A>G	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0002895	Anemia, Sickle Cell	disease	BEFREE
C0003578	Apnea	phenotype	HPO
C0007758	Cerebellar Ataxia	phenotype	HPO
C0008924	Cleft upper lip	disease	HPO
C0014877	Esotropia	disease	HPO
C0018777	Conductive hearing loss	disease	HPO
C0018790	Cardiac Arrest	disease	BEFREE
C0020534	Orbital separation excessive	phenotype	HPO
C0020578	Hyperventilation	phenotype	HPO
C0022346	Icterus	phenotype	CLINVAR
C0025362	Mental Retardation	disease	HPO
C0025990	Micrognathism	disease	HPO
C0026827	Muscle hypotonia	phenotype	HPO
C0028738	Nystagmus	disease	HPO
C0033975	Psychotic Disorders	group	BEFREE
C0151786	Muscle Weakness	phenotype	HPO
C0155877	Allergic asthma	disease	BEFREE
C0220697	POLYDACTYLY, POSTAXIAL	disease	BEFREE;HPO
C0221357	Brachydactyly	disease	HPO
C0231246	Failure to gain weight	phenotype	HPO
C0239234	Low set ears	phenotype	HPO
C0240635	Byzanthine arch palate	disease	HPO
C0241438	Tongue nodules	phenotype	HPO
C0265610	Congenital clinodactyly	disease	HPO
C0265660	Syndactyly of the toes	disease	HPO
C0339510	Vitelliform Macular Dystrophy	disease	BEFREE
C0342418	Hypothalamic hamartomas	disease	HPO
C0349204	Nonorganic psychosis	disease	BEFREE
C0349588	Short stature	phenotype	HPO
C0423903	Low intelligence	phenotype	HPO
C0426429	Broad nasal tip	phenotype	HPO
C0431399	Familial aplasia of the vermis	disease	BEFREE;CLINVAR;ORPHANET
C0431478	Posteriorly rotated ear	disease	HPO
C0476403	Electromyogram abnormal	phenotype	HPO
C0542519	Congenital absence of kidney	disease	HPO
C0557874	Global developmental delay	disease	HPO
C0575081	Gait abnormality	group	HPO
C0678230	Congenital Epicanthus	disease	HPO
C0917816	Mental deficiency	disease	HPO
C1395852	Polydactyly preaxial type 1	disease	HPO
C1619700	RENAL ADYSPLASIA	disease	HPO
C1709353	Osteofibrous Dysplasia	disease	BEFREE
C1836047	Long face	phenotype	HPO
C1836189	Radial deviation of finger	phenotype	HPO
C1840379	Cerebellar vermis hypoplasia	phenotype	HPO
C1843367	Poor school performance	phenotype	HPO
C1843505	Degeneration of anterior horn cells	phenotype	HPO
C1848597	Central Y-shaped metacarpal	phenotype	HPO
C1854418	Biparietal narrowing	phenotype	HPO
C1857130	Hypoplastic mandible condyle	phenotype	HPO
C1858120	Generalized hypotonia	phenotype	HPO
C1864897	Cognitive delay	phenotype	HPO
C1865060	Molar tooth sign on MRI	phenotype	HPO
C1865384	Amyotrophy, monomelic	disease	ORPHANET
C1866339	Preaxial Hallucal Polydactyly	disease	HPO
C2112942	Preaxial foot polydactyly	phenotype	HPO
C2315100	Pediatric failure to thrive	disease	HPO
C2674608	Feeding difficulties in infancy	phenotype	HPO
C2745997	OROFACIODIGITAL SYNDROME VI	disease	BEFREE;CLINVAR;CTD_human;ORPHANET
C2981150	Uranostaphyloschisis	disease	HPO
C3489733	Oculomotor apraxia	disease	HPO
C3536714	Renal dysplasia	disease	HPO
C3553264	JOUBERT SYNDROME 17	disease	CLINVAR;MGD
C3714756	Intellectual Disability	group	HPO
C3806218	Episodic tachypnea	phenotype	HPO
C4020690	Abnormality of peripheral nerve conduction	phenotype	HPO
C4020875	Mental and motor retardation	phenotype	CLINVAR;HPO
C4020876	Dull intelligence	phenotype	HPO
C4020886	Defective or absent horizontal voluntary eye movements	phenotype	HPO
C4021581	Distal upper limb amyotrophy	disease	HPO
C4021606	Mesoaxial hand polydactyly	phenotype	HPO
C4021814	Accessory oral frenulum	phenotype	HPO
C4024589	Aplasia/Hypoplasia of the mandible	phenotype	HPO
C4277690	Ciliopathies	group	BEFREE
C4280304	Curvature of digit	phenotype	HPO
C4280532	Decreased width of the skull	phenotype	HPO
C4476523	Decreased projection of lower jaw	phenotype	HPO
C4476524	Decreased projection of mandible	phenotype	HPO
C4476525	Retrusion of lower jaw	phenotype	HPO
C4531021	Undergrowth	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001736	establishment of planar polarity	IEA
GO:0001822	kidney development	IEA
GO:0003281	ventricular septum development	IEA
GO:0021549	cerebellum development	IEA
GO:0042733	embryonic digit morphogenesis	IEA
GO:0060021	roof of mouth development	IEA
GO:0060271	cilium assembly	IBA
GO:0060271	cilium assembly	IMP
GO:0060976	coronary vasculature development	IEA
GO:1904491	protein localization to ciliary transition zone	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0016021	integral component of membrane	IEA
GO:0035869	ciliary transition zone	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
D000082	Acetaminophen	Acetaminophen results in increased expression of CPLANE1 mRNA	22230336
D000393	Air Pollutants	Air Pollutants analog results in decreased expression of CPLANE1 mRNA	21757418
D001280	Atrazine	Atrazine affects the methylation of CPLANE1 gene	28931070
C006780	bisphenol A	bisphenol A affects the expression of CPLANE1 mRNA	25181051
C006780	bisphenol A	[bisphenol A co-treated with Testosterone] results in decreased expression of CPLANE1 mRNA	26496021
C006780	bisphenol A	bisphenol A results in decreased expression of CPLANE1 mRNA	30816183
C018475	butyraldehyde	butyraldehyde results in decreased expression of CPLANE1 mRNA	26079696
D002990	Clobetasol	Clobetasol results in decreased expression of CPLANE1 mRNA	27462272
D004317	Doxorubicin	Doxorubicin results in decreased expression of CPLANE1 mRNA	29803840
D004726	Endosulfan	Endosulfan results in decreased expression of CPLANE1 mRNA	29391264
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of CPLANE1 mRNA	22079256
C544151	jinfukang	jinfukang results in decreased expression of CPLANE1 mRNA	27392435
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in increased expression of CPLANE1 mRNA	24796395
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of CPLANE1 mRNA	28001369
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of CPLANE1 mRNA	23649840
D009532	Nickel	Nickel results in decreased expression of CPLANE1 mRNA	25583101
D010416	Pentachlorophenol	Pentachlorophenol results in increased expression of CPLANE1 mRNA	29458080
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of CPLANE1 mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of CPLANE1 mRNA	22079256
D012402	Rotenone	Rotenone results in decreased expression of CPLANE1 mRNA	19013527
D013739	Testosterone	[bisphenol A co-treated with Testosterone] results in decreased expression of CPLANE1 mRNA	26496021
D013853	Thioacetamide	Thioacetamide results in increased expression of CPLANE1 mRNA	23411599
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in increased expression of CPLANE1 mRNA	26179874
D014635	Valproic Acid	Valproic Acid results in decreased expression of CPLANE1 mRNA	23179753; 27188386; 28001369;
D014638	Vanadates	Vanadates results in decreased expression of CPLANE1 mRNA	22714537

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0966	Cell projection
KW-1186	Ciliopathy
KW-0970	Cilium biogenesis/degradation
KW-0175	Coiled coil
KW-0225	Disease mutation
KW-0979	Joubert syndrome
KW-0472	Membrane
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR028236	CPLANE1
IPR036322	WD40_repeat_dom_sf

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF15392	Joubert