CleftGeneDB-Search

Gene: CHD7

Basic information

Tag	Content
Uniprot ID	Q9P2D1; D0VBA5; E9PNZ2; Q05DI5; Q2TAN4; Q66K35; Q7Z6C0; Q7Z7Q2; Q9NXA0; Q9NXA3;
Entrez ID	55636
Genbank protein ID	BAA92654.1; AAH14681.1; BAA91113.1; AAH80627.1; AAH51264.1; AAH68000.1; AAI10819.1; BAA91116.1; ACY35999.1; AAH53890.1;
Genbank nucleotide ID	NM_001316690.1; NM_017780.3;
Ensembl protein ID	ENSP00000436027; ENSP00000392028; ENSP00000437061;
Ensembl nucleotide ID	ENSG00000171316
Gene name	Chromodomain-helicase-DNA-binding protein 7
Gene symbol	CHD7
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	18073582
Functional description	Probable transcription regulator. Maybe involved in the in 45S precursor rRNA production.
Sequence	MADPGMMSLF GEDGNIFSEG LEGLGECGYP ENPVNPMGQQ MPIDQGFASL QPSLHHPSTN 60 QNQTKLTHFD HYNQYEQQKM HLMDQPNRMM SNTPGNGLAS PHSQYHTPPV PQVPHGGSGG 120 GQMGVYPGMQ NERHGQSFVD SSSMWGPRAV QVPDQIRAPY QQQQPQPQPP QPAPSGPPAQ 180 GHPQHMQQMG SYMARGDFSM QQHGQPQQRM SQFSQGQEGL NQGNPFIATS GPGHLSHVPQ 240 QSPSMAPSLR HSVQQFHHHP STALHGESVA HSPRFSPNPP QQGAVRPQTL NFSSRSQTVP 300 SPTINNSGQY SRYPYSNLNQ GLVNNTGMNQ NLGLTNNTPM NQSVPRYPNA VGFPSNSGQG 360 LMHQQPIHPS GSLNQMNTQT MHPSQPQGTY ASPPPMSPMK AMSNPAGTPP PQVRPGSAGI 420 PMEVGSYPNM PHPQPSHQPP GAMGIGQRNM GPRNMQQSRP FIGMSSAPRE LTGHMRPNGC 480 PGVGLGDPQA IQERLIPGQQ HPGQQPSFQQ LPTCPPLQPH PGLHHQSSPP HPHHQPWAQL 540 HPSPQNTPQK VPVHQHSPSE PFLEKPVPDM TQVSGPNAQL VKSDDYLPSI EQQPQQKKKK 600 KKNNHIVAED PSKGFGKDDF PGGVDNQELN RNSLDGSQEE KKKKKRSKAK KDPKEPKEPK 660 EKKEPKEPKT PKAPKIPKEP KEKKAKTATP KPKSSKKSSN KKPDSEASAL KKKVNKGKTE 720 GSENSDLDKT PPPSPPPEED EDPGVQKRRS SRQVKRKRYT EDLEFKISDE EADDADAAGR 780 DSPSNTSQSE QQESVDAEGP VVEKIMSSRS VKKQKESGEE VEIEEFYVKY KNFSYLHCQW 840 ASIEDLEKDK RIQQKIKRFK AKQGQNKFLS EIEDELFNPD YVEVDRIMDF ARSTDDRGEP 900 VTHYLVKWCS LPYEDSTWER RQDIDQAKIE EFEKLMSREP ETERVERPPA DDWKKSESSR 960 EYKNNNKLRE YQLEGVNWLL FNWYNMRNCI LADEMGLGKT IQSITFLYEI YLKGIHGPFL 1020 VIAPLSTIPN WEREFRTWTE LNVVVYHGSQ ASRRTIQLYE MYFKDPQGRV IKGSYKFHAI 1080 ITTFEMILTD CPELRNIPWR CVVIDEAHRL KNRNCKLLEG LKMMDLEHKV LLTGTPLQNT 1140 VEELFSLLHF LEPSRFPSET TFMQEFGDLK TEEQVQKLQA ILKPMMLRRL KEDVEKNLAP 1200 KEETIIEVEL TNIQKKYYRA ILEKNFTFLS KGGGQANVPN LLNTMMELRK CCNHPYLING 1260 AEEKILEEFK ETHNAESPDF QLQAMIQAAG KLVLIDKLLP KLKAGGHRVL IFSQMVRCLD 1320 ILEDYLIQRR YPYERIDGRV RGNLRQAAID RFSKPDSDRF VFLLCTRAGG LGINLTAADT 1380 CIIFDSDWNP QNDLQAQARC HRIGQSKSVK IYRLITRNSY EREMFDKASL KLGLDKAVLQ 1440 SMSGRENATN GVQQLSKKEI EDLLRKGAYG ALMDEEDEGS KFCEEDIDQI LLRRTHTITI 1500 ESEGKGSTFA KASFVASGNR TDISLDDPNF WQKWAKKAEL DIDALNGRNN LVIDTPRVRK 1560 QTRLYSAVKE DELMEFSDLE SDSEEKPCAK PRRPQDKSQG YARSECFRVE KNLLVYGWGR 1620 WTDILSHGRY KRQLTEQDVE TICRTILVYC LNHYKGDENI KSFIWDLITP TADGQTRALV 1680 NHSGLSAPVP RGRKGKKVKA QSTQPVVQDA DWLASCNPDA LFQEDSYKKH LKHHCNKVLL 1740 RVRMLYYLRQ EVIGDQADKI LEGADSSEAD VWIPEPFHAE VPADWWDKEA DKSLLIGVFK 1800 HGYEKYNSMR ADPALCFLER VGMPDAKAIA AEQRGTDMLA DGGDGGEFDR EDEDPEYKPT 1860 RTPFKDEIDE FANSPSEDKE ESMEIHATGK HSESNAELGQ LYWPNTSTLT TRLRRLITAY 1920 QRSYKRQQMR QEALMKTDRR RRRPREEVRA LEAEREAIIS EKRQKWTRRE EADFYRVVST 1980 FGVIFDPVKQ QFDWNQFRAF ARLDKKSDES LEKYFSCFVA MCRRVCRMPV KPDDEPPDLS 2040 SIIEPITEER ASRTLYRIEL LRKIREQVLH HPQLGERLKL CQPSLDLPEW WECGRHDRDL 2100 LVGAAKHGVS RTDYHILNDP ELSFLDAHKN FAQNRGAGNT SSLNPLAVGF VQTPPVISSA 2160 HIQDERVLEQ AEGKVEEPEN PAAKEKCEGK EEEEETDGSG KESKQECEAE ASSVKNELKG 2220 VEVGADTGSK SISEKGSEED EEEKLEDDDK SEESSQPEAG AVSRGKNFDE ESNASMSTAR 2280 DETRDGFYME DGDPSVAQLL HERTFAFSFW PKDRVMINRL DNICEAVLKG KWPVNRRQMF 2340 DFQGLIPGYT PTTVDSPLQK RSFAELSMVG QASISGSEDI TTSPQLSKED ALNLSVPRQR 2400 RRRRRKIEIE AERAAKRRNL MEMVAQLRES QVVSENGQEK VVDLSKASRE ATSSTSNFSS 2460 LSSKFILPNV STPVSDAFKT QMELLQAGLS RTPTRHLLNG SLVDGEPPMK RRRGRRKNVE 2520 GLDLLFMSHK RTSLSAEDAE VTKAFEEDIE TPPTRNIPSP GQLDPDTRIP VINLEDGTRL 2580 VGEDAPKNKD LVEWLKLHPT YTVDMPSYVP KNADVLFSSF QKPKQKRHRC RNPNKLDINT 2640 LTGEERVPVV NKRNGKKMGG AMAPPMKDLP RWLEENPEFA VAPDWTDIVK QSGFVPESMF 2700 DRLLTGPVVR GEGASRRGRR PKSEIARAAA AAAAVASTSG INPLLVNSLF AGMDLTSLQN 2760 LQNLQSLQLA GLMGFPPGLA TAATAGGDAK NPAAVLPLML PGMAGLPNVF GLGGLLNNPL 2820 SAATGNTTTA SSQGEPEDST SKGEEKGNEN EDENKDSEKS TDAVSAADSA NGSVGAATAP 2880 AGLPSNPLAF NPFLLSTMAP GLFYPSMFLP PGLGGLTLPG FPALAGLQNA VGSSEEKAAD 2940 KAEGGPFKDG ETLEGSDAEE SLDKTAESSL LEDEIAQGEE LDSLDGGDEI ENNENDE 2997

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
2CKC
2V0E
2V0F
2CKC
2V0E

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
CHD7	c.7165-4A>G (heterozygous)	Exome sequencing and Sanger sequencing	31060112

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1468803021	p.Ala2Thr	missense variant	-	NC_000008.11:g.60741436G>A	gnomAD
rs1357950918	p.Asp3Asn	missense variant	-	NC_000008.11:g.60741439G>A	gnomAD
rs370099061	p.Pro4Leu	missense variant	-	NC_000008.11:g.60741443C>T	ESP,ExAC,gnomAD
RCV000332889	p.Gly5Arg	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60741445G>C	ClinVar
RCV000389791	p.Gly5Arg	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60741445G>C	ClinVar
rs886063031	p.Gly5Arg	missense variant	-	NC_000008.11:g.60741445G>C	-
NCI-TCGA novel	p.Gly5Glu	missense variant	-	NC_000008.11:g.60741446G>A	NCI-TCGA
rs775507949	p.Met6Ile	missense variant	-	NC_000008.11:g.60741450G>T	ExAC,gnomAD
rs1219952010	p.Met7Thr	missense variant	-	NC_000008.11:g.60741452T>C	TOPMed
rs769949098	p.Glu12Lys	missense variant	-	NC_000008.11:g.60741466G>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu12Val	missense variant	-	NC_000008.11:g.60741467A>T	NCI-TCGA
rs1280305079	p.Ser18Asn	missense variant	-	NC_000008.11:g.60741485G>A	gnomAD
rs770139962	p.Gly20Asp	missense variant	-	NC_000008.11:g.60741491G>A	ExAC,gnomAD
rs1475653682	p.Leu21Arg	missense variant	-	NC_000008.11:g.60741494T>G	gnomAD
COSM3929608	p.Glu22Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60741496G>C	NCI-TCGA Cosmic
rs1361545618	p.Glu22Gly	missense variant	-	NC_000008.11:g.60741497A>G	TOPMed
rs1276525542	p.Gly23Val	missense variant	-	NC_000008.11:g.60741500G>T	gnomAD
rs763058890	p.Gly23Ser	missense variant	-	NC_000008.11:g.60741499G>A	ExAC,TOPMed,gnomAD
rs1406914349	p.Leu24Phe	missense variant	-	NC_000008.11:g.60741502C>T	TOPMed
COSM4850256	p.Gly25Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60741506G>A	NCI-TCGA Cosmic
rs759887905	p.Gly25Arg	missense variant	-	NC_000008.11:g.60741505G>A	ExAC,gnomAD
COSM1100764	p.Glu26Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.60741508G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Tyr29Cys	missense variant	-	NC_000008.11:g.60741518A>G	NCI-TCGA
rs768014298	p.Pro30Leu	missense variant	-	NC_000008.11:g.60741521C>T	ExAC,TOPMed,gnomAD
rs755642503	p.Asn32Ser	missense variant	-	NC_000008.11:g.60741527A>G	ExAC,gnomAD
rs763572916	p.Pro33Arg	missense variant	-	NC_000008.11:g.60741530C>G	ExAC,TOPMed,gnomAD
RCV000607705	p.Pro33Arg	missense variant	-	NC_000008.11:g.60741530C>G	ClinVar
NCI-TCGA novel	p.Pro33Leu	missense variant	-	NC_000008.11:g.60741530C>T	NCI-TCGA
rs1023797858	p.Val34Ile	missense variant	-	NC_000008.11:g.60741532G>A	TOPMed
rs1426578628	p.Pro36Ser	missense variant	-	NC_000008.11:g.60741538C>T	gnomAD
rs1416709395	p.Met37Leu	missense variant	-	NC_000008.11:g.60741541A>T	TOPMed,gnomAD
rs1416709395	p.Met37Val	missense variant	-	NC_000008.11:g.60741541A>G	TOPMed,gnomAD
rs1174791970	p.Gly38Asp	missense variant	-	NC_000008.11:g.60741545G>A	TOPMed,gnomAD
rs753525257	p.Gln40His	missense variant	-	NC_000008.11:g.60741552A>C	ExAC,TOPMed,gnomAD
rs756851968	p.Met41Ile	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60741555G>A	UniProt,dbSNP
VAR_068104	p.Met41Ile	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60741555G>A	UniProt
rs756851968	p.Met41Ile	missense variant	-	NC_000008.11:g.60741555G>A	ExAC,TOPMed,gnomAD
rs1300386910	p.Pro42Ser	missense variant	-	NC_000008.11:g.60741556C>T	gnomAD
rs201542180	p.Ile43Val	missense variant	-	NC_000008.11:g.60741559A>G	ExAC,TOPMed,gnomAD
rs1435948803	p.Ile43Thr	missense variant	-	NC_000008.11:g.60741560T>C	TOPMed,gnomAD
rs745661321	p.Gln45Arg	missense variant	-	NC_000008.11:g.60741566A>G	ExAC,gnomAD
rs758174511	p.Gly46Arg	missense variant	-	NC_000008.11:g.60741568G>C	ExAC,gnomAD
rs527378833	p.Gly46Val	missense variant	-	NC_000008.11:g.60741569G>T	1000Genomes,ExAC,gnomAD
rs1364452059	p.Phe47Val	missense variant	-	NC_000008.11:g.60741571T>G	gnomAD
rs886039523	p.Gln51Ter	stop gained	-	NC_000008.11:g.60741583C>T	-
RCV000255545	p.Gln51Ter	nonsense	-	NC_000008.11:g.60741583C>T	ClinVar
rs1032852484	p.Gln51His	missense variant	-	NC_000008.11:g.60741585G>T	TOPMed,gnomAD
rs377710972	p.Pro52Arg	missense variant	-	NC_000008.11:g.60741587C>G	ESP,TOPMed,gnomAD
rs1203631802	p.Pro52Ser	missense variant	-	NC_000008.11:g.60741586C>T	TOPMed
rs1225403740	p.Ser53Thr	missense variant	-	NC_000008.11:g.60741589T>A	TOPMed
RCV000002116	p.His55Arg	missense variant	Kallmann syndrome 5 (KAL5)	NC_000008.11:g.60741596A>G	ClinVar
rs121434345	p.His55Arg	missense variant	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)	NC_000008.11:g.60741596A>G	UniProt,dbSNP
VAR_054623	p.His55Arg	missense variant	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)	NC_000008.11:g.60741596A>G	UniProt
rs121434345	p.His55Arg	missense variant	-	NC_000008.11:g.60741596A>G	ExAC,gnomAD
rs548706525	p.Thr59Ser	missense variant	-	NC_000008.11:g.60741608C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs749583783	p.Asn60Ser	missense variant	-	NC_000008.11:g.60741611A>G	ExAC,gnomAD
NCI-TCGA novel	p.Gln61Glu	missense variant	-	NC_000008.11:g.60741613C>G	NCI-TCGA
NCI-TCGA novel	p.Gln61Ter	stop gained	-	NC_000008.11:g.60741613C>T	NCI-TCGA
rs1380251518	p.Asn62Ser	missense variant	-	NC_000008.11:g.60741617A>G	gnomAD
rs1299084588	p.Thr64Ala	missense variant	-	NC_000008.11:g.60741622A>G	TOPMed
RCV000145655	p.Thr64Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60741619_60741622CAAA[1]	ClinVar
NCI-TCGA novel	p.Thr67Lys	missense variant	-	NC_000008.11:g.60741632C>A	NCI-TCGA
rs771073528	p.His68Arg	missense variant	-	NC_000008.11:g.60741635A>G	ExAC,gnomAD
RCV000292236	p.His68Tyr	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60741634C>T	ClinVar
RCV000330840	p.His68Tyr	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60741634C>T	ClinVar
rs886063032	p.His68Tyr	missense variant	-	NC_000008.11:g.60741634C>T	gnomAD
rs886063032	p.His68Asn	missense variant	-	NC_000008.11:g.60741634C>A	gnomAD
RCV000481309	p.Phe69Ter	frameshift	-	NC_000008.11:g.60741639del	ClinVar
rs759847780	p.Asp70His	missense variant	-	NC_000008.11:g.60741640G>C	ExAC,TOPMed,gnomAD
rs767819417	p.Tyr72Cys	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60741647A>G	UniProt,dbSNP
VAR_068375	p.Tyr72Cys	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60741647A>G	UniProt
rs767819417	p.Tyr72Cys	missense variant	-	NC_000008.11:g.60741647A>G	ExAC,TOPMed,gnomAD
rs761139919	p.Gln74Arg	missense variant	-	NC_000008.11:g.60741653A>G	ExAC,gnomAD
COSM3834871	p.Tyr75His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60741655T>C	NCI-TCGA Cosmic
RCV000478136	p.Lys79Arg	missense variant	-	NC_000008.11:g.60741668A>G	ClinVar
rs1064796792	p.Lys79Arg	missense variant	-	NC_000008.11:g.60741668A>G	-
rs753270420	p.Met80Val	missense variant	-	NC_000008.11:g.60741670A>G	ExAC,TOPMed,gnomAD
rs199675125	p.Met80Ile	missense variant	-	NC_000008.11:g.60741672G>A	ESP,ExAC,TOPMed,gnomAD
rs199675125	p.Met80Ile	missense variant	-	NC_000008.11:g.60741672G>T	ESP,ExAC,TOPMed,gnomAD
RCV000175885	p.Met80Ile	missense variant	-	NC_000008.11:g.60741672G>A	ClinVar
rs753270420	p.Met80Leu	missense variant	-	NC_000008.11:g.60741670A>T	ExAC,TOPMed,gnomAD
rs764798609	p.His81Arg	missense variant	-	NC_000008.11:g.60741674A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu82Pro	missense variant	-	NC_000008.11:g.60741677T>C	NCI-TCGA
NCI-TCGA novel	p.Gln85Leu	missense variant	-	NC_000008.11:g.60741686A>T	NCI-TCGA
rs1355349547	p.Pro86Leu	missense variant	-	NC_000008.11:g.60741689C>T	gnomAD
RCV000719967	p.Pro86Arg	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60741689C>G	ClinVar
VAR_068105	p.Pro86Arg	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
rs1358881216	p.Asn87Lys	missense variant	-	NC_000008.11:g.60741693C>G	TOPMed,gnomAD
RCV000175886	p.Ser91Asn	missense variant	-	NC_000008.11:g.60741704G>A	ClinVar
rs794727294	p.Ser91Asn	missense variant	-	NC_000008.11:g.60741704G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Asn92Ser	missense variant	-	NC_000008.11:g.60741707A>G	NCI-TCGA
rs398124317	p.Thr93Ala	missense variant	-	NC_000008.11:g.60741709A>G	ExAC,TOPMed,gnomAD
rs398124317	p.Thr93Ala	missense variant	-	NC_000008.11:g.60741709A>G	UniProt,dbSNP
VAR_068376	p.Thr93Ala	missense variant	-	NC_000008.11:g.60741709A>G	UniProt
RCV000796849	p.Thr93Ala	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60741709A>G	ClinVar
rs1197478449	p.Pro94Leu	missense variant	-	NC_000008.11:g.60741713C>T	gnomAD
RCV000679949	p.Asn96Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60741714del	ClinVar
NCI-TCGA novel	p.Gly97Glu	missense variant	-	NC_000008.11:g.60741722G>A	NCI-TCGA
rs368160678	p.Gly97Arg	missense variant	-	NC_000008.11:g.60741721G>A	ESP,ExAC,gnomAD
COSM1100770	p.Leu98Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60741724C>A	NCI-TCGA Cosmic
rs779024959	p.Ala99Pro	missense variant	-	NC_000008.11:g.60741727G>C	ExAC,TOPMed,gnomAD
rs779024959	p.Ala99Pro	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60741727G>C	UniProt,dbSNP
VAR_068377	p.Ala99Pro	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60741727G>C	UniProt
rs779024959	p.Ala99Thr	missense variant	-	NC_000008.11:g.60741727G>A	ExAC,TOPMed,gnomAD
rs772466277	p.Ala99Val	missense variant	-	NC_000008.11:g.60741728C>T	ExAC,gnomAD
RCV000258079	p.Ala99Pro	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60741727G>C	ClinVar
rs769161426	p.Pro101Leu	missense variant	-	NC_000008.11:g.60741734C>T	ExAC,TOPMed,gnomAD
rs761253760	p.His102Asn	missense variant	-	NC_000008.11:g.60741736C>A	ExAC,TOPMed,gnomAD
rs1242372187	p.Ser103Leu	missense variant	-	NC_000008.11:g.60741740C>T	TOPMed,gnomAD
rs41272435	p.Ser103Thr	missense variant	-	NC_000008.11:g.60741739T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs41272435	p.Ser103Thr	missense variant	-	NC_000008.11:g.60741739T>A	UniProt,dbSNP
VAR_068106	p.Ser103Thr	missense variant	-	NC_000008.11:g.60741739T>A	UniProt
RCV000711193	p.Ser103Thr	missense variant	-	NC_000008.11:g.60741739T>A	ClinVar
RCV000081827	p.Ser103Thr	missense variant	-	NC_000008.11:g.60741739T>A	ClinVar
RCV000715503	p.Ser103Thr	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60741739T>A	ClinVar
rs1356622302	p.Gln104His	missense variant	-	NC_000008.11:g.60741744G>T	gnomAD
rs1131691733	p.Gln104Ter	stop gained	-	NC_000008.11:g.60741742C>T	-
RCV000493513	p.Gln104Ter	nonsense	-	NC_000008.11:g.60741742C>T	ClinVar
NCI-TCGA novel	p.Tyr105His	missense variant	-	NC_000008.11:g.60741745T>C	NCI-TCGA
COSM4909501	p.His106Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60741748C>T	NCI-TCGA Cosmic
rs1057234037	p.Thr107Asn	missense variant	-	NC_000008.11:g.60741752C>A	TOPMed,gnomAD
RCV000175895	p.Pro108His	missense variant	-	NC_000008.11:g.60741755C>A	ClinVar
RCV000659293	p.Pro108His	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60741755C>A	ClinVar
RCV000825308	p.Pro108His	missense variant	-	NC_000008.11:g.60741755C>A	ClinVar
rs369818702	p.Pro108His	missense variant	-	NC_000008.11:g.60741755C>A	ESP,ExAC,TOPMed,gnomAD
rs1404976573	p.Pro108Ser	missense variant	-	NC_000008.11:g.60741754C>T	TOPMed
rs1201112835	p.Pro109Arg	missense variant	-	NC_000008.11:g.60741758C>G	gnomAD
rs1201112835	p.Pro109Leu	missense variant	-	NC_000008.11:g.60741758C>T	gnomAD
NCI-TCGA novel	p.Pro109Thr	missense variant	-	NC_000008.11:g.60741757C>A	NCI-TCGA
rs754755486	p.Val110Ile	missense variant	-	NC_000008.11:g.60741760G>A	ExAC,gnomAD
rs147164392	p.Pro111Ser	missense variant	-	NC_000008.11:g.60741763C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs147164392	p.Pro111Ala	missense variant	-	NC_000008.11:g.60741763C>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000081831	p.Pro111Ser	missense variant	-	NC_000008.11:g.60741763C>T	ClinVar
rs757329066	p.Gln112Arg	missense variant	-	NC_000008.11:g.60741767A>G	ExAC,TOPMed,gnomAD
COSM3675144	p.Val113Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60741769G>C	NCI-TCGA Cosmic
RCV000145666	p.Gly117Asp	missense variant	-	NC_000008.11:g.60741782G>A	ClinVar
rs372110761	p.Gly117Val	missense variant	-	NC_000008.11:g.60741782G>T	ESP,ExAC,TOPMed,gnomAD
rs372110761	p.Gly117Asp	missense variant	-	NC_000008.11:g.60741782G>A	UniProt,dbSNP
VAR_072954	p.Gly117Asp	missense variant	-	NC_000008.11:g.60741782G>A	UniProt
rs372110761	p.Gly117Asp	missense variant	-	NC_000008.11:g.60741782G>A	ESP,ExAC,TOPMed,gnomAD
rs764675280	p.Gly119Cys	missense variant	-	NC_000008.11:g.60741787G>T	ExAC,TOPMed,gnomAD
rs587783439	p.Gly121Ser	missense variant	-	NC_000008.11:g.60741793G>A	ExAC,TOPMed,gnomAD
rs369516044	p.Gly121Asp	missense variant	-	NC_000008.11:g.60741794G>A	ESP,TOPMed
RCV000145668	p.Gly121Ser	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60741793G>A	ClinVar
RCV000598561	p.Gln122Ter	nonsense	-	NC_000008.11:g.60741796C>T	ClinVar
rs1554581127	p.Gln122Ter	stop gained	-	NC_000008.11:g.60741796C>T	-
rs1399061308	p.Gly124Val	missense variant	-	NC_000008.11:g.60741803G>T	gnomAD
rs566085835	p.Val125Gly	missense variant	-	NC_000008.11:g.60741806T>G	1000Genomes,ExAC,gnomAD
rs566085835	p.Val125Ala	missense variant	-	NC_000008.11:g.60741806T>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Val125Phe	missense variant	-	NC_000008.11:g.60741805G>T	NCI-TCGA
rs1319506534	p.Tyr126Cys	missense variant	-	NC_000008.11:g.60741809A>G	gnomAD
RCV000736079	p.Tyr126Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60741810C>A	ClinVar
RCV000301751	p.Pro127Ter	frameshift	-	NC_000008.11:g.60741812del	ClinVar
rs1486863412	p.Gly128Asp	missense variant	-	NC_000008.11:g.60741815G>A	TOPMed
rs1254843858	p.Met129Val	missense variant	-	NC_000008.11:g.60741817A>G	gnomAD
rs1344926968	p.Met129Ile	missense variant	-	NC_000008.11:g.60741819G>A	gnomAD
rs1261424171	p.Arg133Ser	missense variant	-	NC_000008.11:g.60741831G>T	TOPMed
RCV000719267	p.Arg133Ser	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60741831G>T	ClinVar
COSM1100773	p.His134Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60741832C>T	NCI-TCGA Cosmic
rs183761594	p.Ser137Ala	missense variant	-	NC_000008.11:g.60741841T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs905235341	p.Ser141Cys	missense variant	-	NC_000008.11:g.60741853A>T	TOPMed,gnomAD
rs905235341	p.Ser141Gly	missense variant	-	NC_000008.11:g.60741853A>G	TOPMed,gnomAD
rs1194000842	p.Ser141Asn	missense variant	-	NC_000008.11:g.60741854G>A	gnomAD
rs766134825	p.Ser142Thr	missense variant	-	NC_000008.11:g.60741857G>C	ExAC,TOPMed,gnomAD
rs1464536379	p.Ser143Ala	missense variant	-	NC_000008.11:g.60741859T>G	gnomAD
rs188533205	p.Ser143Cys	missense variant	-	NC_000008.11:g.60741860C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs188533205	p.Ser143Phe	missense variant	-	NC_000008.11:g.60741860C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser143Tyr	missense variant	-	NC_000008.11:g.60741860C>A	NCI-TCGA
rs759429611	p.Met144Val	missense variant	-	NC_000008.11:g.60741862A>G	ExAC,gnomAD
RCV000384888	p.Trp145Ter	nonsense	-	NC_000008.11:g.60741866G>A	ClinVar
rs886041163	p.Trp145Ter	stop gained	-	NC_000008.11:g.60741866G>A	-
COSM6113625	p.Gly146Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60741869G>T	NCI-TCGA Cosmic
rs569689278	p.Gly146Ser	missense variant	-	NC_000008.11:g.60741868G>A	1000Genomes,ExAC,gnomAD
rs536699844	p.Pro147Ser	missense variant	-	NC_000008.11:g.60741871C>T	ExAC,gnomAD
rs1382370878	p.Pro147Leu	missense variant	-	NC_000008.11:g.60741872C>T	gnomAD
rs756074454	p.Arg148Lys	missense variant	-	NC_000008.11:g.60741875G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala149Ser	missense variant	-	NC_000008.11:g.60741877G>T	NCI-TCGA
rs1349169485	p.Val150Ala	missense variant	-	NC_000008.11:g.60741881T>C	gnomAD
rs1009569570	p.Pro153Leu	missense variant	-	NC_000008.11:g.60741890C>T	TOPMed
NCI-TCGA novel	p.Pro153Gln	missense variant	-	NC_000008.11:g.60741890C>A	NCI-TCGA
rs1216364151	p.Asp154Gly	missense variant	-	NC_000008.11:g.60741893A>G	gnomAD
RCV000175883	p.Arg157Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60741901C>T	ClinVar
RCV000506348	p.Arg157Ter	nonsense	-	NC_000008.11:g.60741901C>T	ClinVar
rs758402387	p.Arg157Gln	missense variant	-	NC_000008.11:g.60741902G>A	ExAC,TOPMed,gnomAD
RCV000351604	p.Arg157Ter	nonsense	-	NC_000008.11:g.60741901C>T	ClinVar
rs794727293	p.Arg157Ter	stop gained	-	NC_000008.11:g.60741901C>T	gnomAD
rs780282927	p.Ala158Thr	missense variant	-	NC_000008.11:g.60741904G>A	ExAC,gnomAD
rs1064794560	p.Pro159Ala	missense variant	-	NC_000008.11:g.60741907C>G	gnomAD
rs1064794560	p.Pro159Ser	missense variant	-	NC_000008.11:g.60741907C>T	gnomAD
RCV000486092	p.Pro159Ala	missense variant	-	NC_000008.11:g.60741907C>G	ClinVar
rs1201043974	p.Pro159Leu	missense variant	-	NC_000008.11:g.60741908C>T	TOPMed,gnomAD
RCV000634428	p.Tyr160Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60741910del	ClinVar
rs747213142	p.Gln161Lys	missense variant	-	NC_000008.11:g.60741913C>A	ExAC,TOPMed,gnomAD
rs781619793	p.Gln161His	missense variant	-	NC_000008.11:g.60741915G>C	ExAC,gnomAD
RCV000634427	p.Gln161Arg	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60741914A>G	ClinVar
rs755340969	p.Gln161Arg	missense variant	-	NC_000008.11:g.60741914A>G	ExAC,TOPMed,gnomAD
rs886040978	p.Gln166Ter	stop gained	-	NC_000008.11:g.60741928C>T	-
RCV000258077	p.Gln166Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60741928C>T	ClinVar
rs61742851	p.Pro167Arg	missense variant	-	NC_000008.11:g.60741932C>G	TOPMed,gnomAD
rs61742851	p.Pro167Leu	missense variant	-	NC_000008.11:g.60741932C>T	TOPMed,gnomAD
rs61742851	p.Pro167Leu	missense variant	-	NC_000008.11:g.60741932C>T	UniProt,dbSNP
VAR_068378	p.Pro167Leu	missense variant	-	NC_000008.11:g.60741932C>T	UniProt
RCV000277084	p.Pro167Leu	missense variant	-	NC_000008.11:g.60741932C>T	ClinVar
RCV000730240	p.Pro167Thr	missense variant	-	NC_000008.11:g.60741931C>A	ClinVar
rs921201693	p.Gln168Arg	missense variant	-	NC_000008.11:g.60741935A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Pro169Ser	missense variant	-	NC_000008.11:g.60741937C>T	NCI-TCGA
rs369545523	p.Pro170Leu	missense variant	-	NC_000008.11:g.60741941C>T	ESP,ExAC,TOPMed,gnomAD
rs369545523	p.Pro170Gln	missense variant	-	NC_000008.11:g.60741941C>A	ESP,ExAC,TOPMed,gnomAD
RCV000760386	p.Gln171Ter	nonsense	-	NC_000008.11:g.60741943C>T	ClinVar
rs199933688	p.Pro172Leu	missense variant	-	NC_000008.11:g.60741947C>T	ESP,ExAC,gnomAD
rs908277149	p.Pro172Ser	missense variant	-	NC_000008.11:g.60741946C>T	TOPMed
rs759229667	p.Ala173Val	missense variant	-	NC_000008.11:g.60741950C>T	ExAC,TOPMed,gnomAD
rs767279224	p.Pro174Leu	missense variant	-	NC_000008.11:g.60741953C>T	ExAC,TOPMed,gnomAD
rs370305211	p.Ser175Leu	missense variant	-	NC_000008.11:g.60741956C>T	ESP,ExAC,TOPMed,gnomAD
RCV000634429	p.Ser175Leu	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60741956C>T	ClinVar
rs753733294	p.Gly176Arg	missense variant	-	NC_000008.11:g.60741958G>C	ExAC,gnomAD
rs753733294	p.Gly176Arg	missense variant	-	NC_000008.11:g.60741958G>A	ExAC,gnomAD
rs1366365769	p.Gly176Ala	missense variant	-	NC_000008.11:g.60741959G>C	gnomAD
RCV000193887	p.Pro177Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60741960dup	ClinVar
rs541311313	p.Pro177Arg	missense variant	-	NC_000008.11:g.60741962C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1459060139	p.Pro177Ser	missense variant	-	NC_000008.11:g.60741961C>T	gnomAD
rs766416900	p.Pro178Ala	missense variant	-	NC_000008.11:g.60741964C>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro178LeuPheSerTerUnkUnk	frameshift	-	NC_000008.11:g.60741957G>-	NCI-TCGA
RCV000175893	p.Ala179Thr	missense variant	-	NC_000008.11:g.60741967G>A	ClinVar
rs794727296	p.Ala179Thr	missense variant	-	NC_000008.11:g.60741967G>A	-
RCV000755928	p.Gln180Ter	nonsense	-	NC_000008.11:g.60741970C>T	ClinVar
rs1446754376	p.Gly181Asp	missense variant	-	NC_000008.11:g.60741974G>A	TOPMed,gnomAD
rs751847978	p.Pro183Arg	missense variant	-	NC_000008.11:g.60741980C>G	ExAC,TOPMed,gnomAD
rs751847978	p.Pro183Leu	missense variant	-	NC_000008.11:g.60741980C>T	ExAC,TOPMed,gnomAD
rs886039526	p.Gln184Ter	stop gained	-	NC_000008.11:g.60741982C>T	-
RCV000255865	p.Gln184Ter	nonsense	-	NC_000008.11:g.60741982C>T	ClinVar
rs553486438	p.His185Gln	missense variant	-	NC_000008.11:g.60741987C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1320149797	p.Met186Val	missense variant	-	NC_000008.11:g.60741988A>G	gnomAD
RCV000717777	p.Met186Val	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60741988A>G	ClinVar
rs1469146074	p.Met186Thr	missense variant	-	NC_000008.11:g.60741989T>C	TOPMed,gnomAD
rs778449732	p.Ser191Arg	missense variant	-	NC_000008.11:g.60742005C>G	ExAC,gnomAD
rs749792505	p.Tyr192Cys	missense variant	-	NC_000008.11:g.60742007A>G	ExAC,TOPMed,gnomAD
RCV000395610	p.Tyr192Cys	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60742007A>G	ClinVar
RCV000303651	p.Tyr192Cys	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60742007A>G	ClinVar
rs542672517	p.Met193Val	missense variant	-	NC_000008.11:g.60742009A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1158518461	p.Met193Thr	missense variant	-	NC_000008.11:g.60742010T>C	gnomAD
rs1480884503	p.Ala194Thr	missense variant	-	NC_000008.11:g.60742012G>A	gnomAD
rs773990845	p.Arg195Cys	missense variant	-	NC_000008.11:g.60742015C>T	ExAC,TOPMed,gnomAD
rs1250450695	p.Arg195His	missense variant	-	NC_000008.11:g.60742016G>A	TOPMed
NCI-TCGA novel	p.Gly196Arg	missense variant	-	NC_000008.11:g.60742018G>C	NCI-TCGA
NCI-TCGA novel	p.Ser199PhePheSerTerUnkUnk	frameshift	-	NC_000008.11:g.60742022_60742023insT	NCI-TCGA
rs1404201767	p.Met200Leu	missense variant	-	NC_000008.11:g.60742030A>T	TOPMed
rs764496155	p.Gln201Arg	missense variant	-	NC_000008.11:g.60742034A>G	ExAC,TOPMed,gnomAD
rs1554581277	p.Gln202Ter	stop gained	-	NC_000008.11:g.60742036C>T	-
RCV000553452	p.Gln202Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60742036C>T	ClinVar
rs375277827	p.His203Arg	missense variant	-	NC_000008.11:g.60742040A>G	ESP,ExAC,TOPMed,gnomAD
rs761518915	p.Gly204Ala	missense variant	-	NC_000008.11:g.60742043G>C	ExAC,gnomAD
rs368047432	p.Pro206Thr	missense variant	-	NC_000008.11:g.60742048C>A	ESP,ExAC,TOPMed,gnomAD
rs1405698484	p.Pro206Leu	missense variant	-	NC_000008.11:g.60742049C>T	gnomAD
rs776593094	p.Met210Val	missense variant	-	NC_000008.11:g.60742060A>G	ExAC,gnomAD
rs560742342	p.Met210Ile	missense variant	-	NC_000008.11:g.60742062G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs936848734	p.Ser211Arg	missense variant	-	NC_000008.11:g.60742063A>C	TOPMed
rs1443483036	p.Phe213Val	missense variant	-	NC_000008.11:g.60742069T>G	gnomAD
rs794727297	p.Gly219Asp	missense variant	-	NC_000008.11:g.60742088G>A	-
RCV000175894	p.Gly219Asp	missense variant	-	NC_000008.11:g.60742088G>A	ClinVar
NCI-TCGA novel	p.Gln222Glu	missense variant	-	NC_000008.11:g.60742096C>G	NCI-TCGA
rs1294102203	p.Phe226Leu	missense variant	-	NC_000008.11:g.60742108T>C	TOPMed,gnomAD
RCV000634420	p.Phe226Leu	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60742108T>C	ClinVar
rs754950510	p.Ile227Val	missense variant	-	NC_000008.11:g.60742111A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala228Val	missense variant	-	NC_000008.11:g.60742115C>T	NCI-TCGA
rs767816305	p.Thr229Pro	missense variant	-	NC_000008.11:g.60742117A>C	ExAC,TOPMed,gnomAD
rs767816305	p.Thr229Ala	missense variant	-	NC_000008.11:g.60742117A>G	ExAC,TOPMed,gnomAD
rs892533813	p.Gly231Ala	missense variant	-	NC_000008.11:g.60742124G>C	TOPMed
rs554647169	p.Pro232Ser	missense variant	-	NC_000008.11:g.60742126C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000258106	p.Pro232Thr	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60742126C>A	ClinVar
rs554647169	p.Pro232Thr	missense variant	-	NC_000008.11:g.60742126C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs778249500	p.Gly233Asp	missense variant	-	NC_000008.11:g.60742130G>A	ExAC,TOPMed,gnomAD
rs565216093	p.His234Gln	missense variant	-	NC_000008.11:g.60742134C>G	1000Genomes,ExAC,TOPMed,gnomAD
COSM3650065	p.Ser236Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60742139C>T	NCI-TCGA Cosmic
RCV000175888	p.Val238Met	missense variant	-	NC_000008.11:g.60742144G>A	ClinVar
rs200898742	p.Val238Leu	missense variant	-	NC_000008.11:g.60742144G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200898742	p.Val238Leu	missense variant	-	NC_000008.11:g.60742144G>C	UniProt,dbSNP
VAR_068379	p.Val238Leu	missense variant	-	NC_000008.11:g.60742144G>C	UniProt
rs200898742	p.Val238Met	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60742144G>A	UniProt,dbSNP
VAR_068108	p.Val238Met	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60742144G>A	UniProt
rs200898742	p.Val238Met	missense variant	-	NC_000008.11:g.60742144G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199549857	p.Pro239Ser	missense variant	-	NC_000008.11:g.60742147C>T	ExAC,gnomAD
RCV000696170	p.Gln240Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60742150del	ClinVar
rs901153300	p.Gln241His	missense variant	-	NC_000008.11:g.60742155G>C	TOPMed,gnomAD
rs1411075980	p.Gln241Arg	missense variant	-	NC_000008.11:g.60742154A>G	gnomAD
NCI-TCGA novel	p.Pro243His	missense variant	-	NC_000008.11:g.60742160C>A	NCI-TCGA
rs779776551	p.Ser244Arg	missense variant	-	NC_000008.11:g.60742164C>G	ExAC,TOPMed,gnomAD
rs768507639	p.Met245Val	missense variant	-	NC_000008.11:g.60742165A>G	ExAC,gnomAD
rs375325395	p.Ala246Pro	missense variant	-	NC_000008.11:g.60742168G>C	ESP,ExAC,TOPMed,gnomAD
rs375325395	p.Ala246Thr	missense variant	-	NC_000008.11:g.60742168G>A	ESP,ExAC,TOPMed,gnomAD
rs749888914	p.Pro247Leu	missense variant	-	NC_000008.11:g.60742172C>T	gnomAD
rs749888914	p.Pro247Arg	missense variant	-	NC_000008.11:g.60742172C>G	gnomAD
rs769728012	p.Pro247Ser	missense variant	-	NC_000008.11:g.60742171C>T	ExAC,TOPMed,gnomAD
rs368934543	p.Arg250Ser	missense variant	-	NC_000008.11:g.60742180C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767475667	p.Arg250His	missense variant	-	NC_000008.11:g.60742181G>A	ExAC,gnomAD
rs368934543	p.Arg250Cys	missense variant	-	NC_000008.11:g.60742180C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753006910	p.His251Asp	missense variant	-	NC_000008.11:g.60742183C>G	ExAC,gnomAD
RCV000276271	p.Ser252Leu	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60742187C>T	ClinVar
rs371930390	p.Ser252Leu	missense variant	-	NC_000008.11:g.60742187C>T	ESP,ExAC,TOPMed,gnomAD
RCV000315043	p.Ser252Leu	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60742187C>T	ClinVar
rs1470802900	p.Val253Leu	missense variant	-	NC_000008.11:g.60742189G>T	TOPMed
rs1380015897	p.Val253Gly	missense variant	-	NC_000008.11:g.60742190T>G	TOPMed
rs1554581354	p.Gln254Ter	stop gained	-	NC_000008.11:g.60742192C>T	-
RCV000523004	p.Gln254Ter	nonsense	-	NC_000008.11:g.60742192C>T	ClinVar
VAR_068380	p.Gln254Glu	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
rs757629380	p.His257Arg	missense variant	-	NC_000008.11:g.60742202A>G	ExAC,TOPMed,gnomAD
rs1242246844	p.His257Tyr	missense variant	-	NC_000008.11:g.60742201C>T	gnomAD
rs1188910098	p.His258Asn	missense variant	-	NC_000008.11:g.60742204C>A	gnomAD
COSM3900854	p.Pro260Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60742211C>T	NCI-TCGA Cosmic
rs766382878	p.Pro260Ser	missense variant	-	NC_000008.11:g.60742210C>T	ExAC,TOPMed,gnomAD
rs750844697	p.Ser261Phe	missense variant	-	NC_000008.11:g.60742214C>T	ExAC,TOPMed,gnomAD
rs750844697	p.Ser261Cys	missense variant	-	NC_000008.11:g.60742214C>G	ExAC,TOPMed,gnomAD
rs1174730803	p.Thr262Ala	missense variant	-	NC_000008.11:g.60742216A>G	TOPMed,gnomAD
rs1174730803	p.Thr262Pro	missense variant	-	NC_000008.11:g.60742216A>C	TOPMed,gnomAD
rs1360274089	p.Ala263Val	missense variant	-	NC_000008.11:g.60742220C>T	gnomAD
NCI-TCGA novel	p.Ala263ArgPheSerTerUnk	stop gained	-	NC_000008.11:g.60742217_60742218insAAGAATGGAACGCTAGGAAGTGTAG	NCI-TCGA
NCI-TCGA novel	p.Ala263Thr	missense variant	-	NC_000008.11:g.60742219G>A	NCI-TCGA
rs779427012	p.His265Arg	missense variant	-	NC_000008.11:g.60742226A>G	ExAC,TOPMed,gnomAD
rs1345967515	p.Gly266Glu	missense variant	-	NC_000008.11:g.60742229G>A	gnomAD
rs746735047	p.Glu267Gly	missense variant	-	NC_000008.11:g.60742232A>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu267Lys	missense variant	-	NC_000008.11:g.60742231G>A	NCI-TCGA
COSM1100779	p.Ser268Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60742235C>T	NCI-TCGA Cosmic
rs747972265	p.Val269Ile	missense variant	-	NC_000008.11:g.60742237G>A	ExAC,TOPMed,gnomAD
rs1308342012	p.Ala270Thr	missense variant	-	NC_000008.11:g.60742240G>A	gnomAD
rs530158598	p.His271Asp	missense variant	-	NC_000008.11:g.60742243C>G	1000Genomes,ExAC,gnomAD
rs762771594	p.Pro273Leu	missense variant	-	NC_000008.11:g.60742250C>T	ExAC,gnomAD
rs1284559737	p.Pro273Ser	missense variant	-	NC_000008.11:g.60742249C>T	gnomAD
rs762771594	p.Pro273Arg	missense variant	-	NC_000008.11:g.60742250C>G	ExAC,gnomAD
NCI-TCGA novel	p.Arg274Gly	missense variant	-	NC_000008.11:g.60742252A>G	NCI-TCGA
COSM2719978	p.Phe275Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60742257C>A	NCI-TCGA Cosmic
rs772257683	p.Pro277Leu	missense variant	-	NC_000008.11:g.60742262C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro279Ser	missense variant	-	NC_000008.11:g.60742267C>T	NCI-TCGA
RCV000242160	p.Pro280Arg	missense variant	-	NC_000008.11:g.60742271C>G	ClinVar
rs760775347	p.Pro280Arg	missense variant	-	NC_000008.11:g.60742271C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala284Thr	missense variant	-	NC_000008.11:g.60742282G>A	NCI-TCGA
rs61995713	p.Arg286Gly	missense variant	-	NC_000008.11:g.60742288A>G	UniProt,dbSNP
VAR_068381	p.Arg286Gly	missense variant	-	NC_000008.11:g.60742288A>G	UniProt
rs61995713	p.Arg286Gly	missense variant	-	NC_000008.11:g.60742288A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000145705	p.Arg286Gly	missense variant	-	NC_000008.11:g.60742288A>G	ClinVar
rs762290343	p.Pro287Leu	missense variant	-	NC_000008.11:g.60742292C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro287Ser	missense variant	-	NC_000008.11:g.60742291C>T	NCI-TCGA
rs762290343	p.Pro287Gln	missense variant	-	NC_000008.11:g.60742292C>A	ExAC,TOPMed,gnomAD
RCV000694516	p.Gln288Lys	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60742294C>A	ClinVar
rs1554581399	p.Gln288Ter	stop gained	-	NC_000008.11:g.60742294C>T	-
RCV000659294	p.Gln288Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60742294C>T	ClinVar
rs1324051057	p.Leu290Arg	missense variant	-	NC_000008.11:g.60742301T>G	gnomAD
rs765674058	p.Asn291His	missense variant	-	NC_000008.11:g.60742303A>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser294Tyr	missense variant	-	NC_000008.11:g.60742313C>A	NCI-TCGA
rs569799707	p.Arg295Gln	missense variant	-	NC_000008.11:g.60742316G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs750978197	p.Arg295Trp	missense variant	-	NC_000008.11:g.60742315C>T	ExAC,gnomAD
rs1444138516	p.Ser296Gly	missense variant	-	NC_000008.11:g.60742318A>G	gnomAD
rs886063033	p.Thr298Ala	missense variant	-	NC_000008.11:g.60742324A>G	-
RCV000275238	p.Thr298Ala	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60742324A>G	ClinVar
RCV000367545	p.Thr298Ala	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60742324A>G	ClinVar
rs376743531	p.Pro302Ser	missense variant	-	NC_000008.11:g.60742336C>T	ExAC,TOPMed
rs747781367	p.Thr303Ala	missense variant	-	NC_000008.11:g.60742339A>G	ExAC,gnomAD
rs537091457	p.Ile304Thr	missense variant	-	NC_000008.11:g.60742343T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1274555136	p.Ile304Val	missense variant	-	NC_000008.11:g.60742342A>G	TOPMed,gnomAD
RCV000727319	p.Ile304Thr	missense variant	-	NC_000008.11:g.60742343T>C	ClinVar
RCV000719435	p.Asn306Ter	frameshift	History of neurodevelopmental disorder	NC_000008.11:g.60742349_60742353del	ClinVar
rs1197409311	p.Gly308Glu	missense variant	-	NC_000008.11:g.60742355G>A	gnomAD
RCV000578198	p.Gln309Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60742357C>T	ClinVar
rs1436515577	p.Gln309Ter	stop gained	-	NC_000008.11:g.60742357C>T	gnomAD
rs1436515577	p.Gln309Lys	missense variant	-	NC_000008.11:g.60742357C>A	gnomAD
rs1471607429	p.Ser311Cys	missense variant	-	NC_000008.11:g.60742364C>G	TOPMed
NCI-TCGA novel	p.Ser311Phe	missense variant	-	NC_000008.11:g.60742364C>T	NCI-TCGA
rs955811265	p.Arg312Gln	missense variant	-	NC_000008.11:g.60742367G>A	TOPMed,gnomAD
rs886041166	p.Arg312Ter	stop gained	-	NC_000008.11:g.60742366C>T	-
RCV000622927	p.Arg312Ter	nonsense	Inborn genetic diseases	NC_000008.11:g.60742366C>T	ClinVar
rs955811265	p.Arg312Pro	missense variant	-	NC_000008.11:g.60742367G>C	TOPMed,gnomAD
rs955811265	p.Arg312Leu	missense variant	-	NC_000008.11:g.60742367G>T	TOPMed,gnomAD
RCV000373668	p.Arg312Ter	nonsense	-	NC_000008.11:g.60742366C>T	ClinVar
rs1472626804	p.Tyr313Cys	missense variant	-	NC_000008.11:g.60742370A>G	gnomAD
rs1468524008	p.Tyr313His	missense variant	-	NC_000008.11:g.60742369T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Pro314Ala	missense variant	-	NC_000008.11:g.60742372C>G	NCI-TCGA
rs1487919186	p.Tyr315Cys	missense variant	-	NC_000008.11:g.60742376A>G	TOPMed
rs749302988	p.Ser316Ile	missense variant	-	NC_000008.11:g.60742379G>T	ExAC,gnomAD
RCV000659107	p.Ser316Gly	missense variant	-	NC_000008.11:g.60742378A>G	ClinVar
rs1010032031	p.Ser316Gly	missense variant	-	NC_000008.11:g.60742378A>G	-
COSM422093	p.Asn317Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60742383C>G	NCI-TCGA Cosmic
rs1393062776	p.Gln320Glu	missense variant	-	NC_000008.11:g.60742390C>G	gnomAD
rs1064793994	p.Gly321Ter	stop gained	-	NC_000008.11:g.60742393G>T	TOPMed
rs1064793994	p.Gly321Arg	missense variant	-	NC_000008.11:g.60742393G>A	TOPMed
RCV000484055	p.Gly321Ter	nonsense	-	NC_000008.11:g.60742393_60742394delinsTA	ClinVar
RCV000486665	p.Gly321Ter	nonsense	-	NC_000008.11:g.60742393G>T	ClinVar
rs1064793996	p.Gly321Ter	stop gained	-	NC_000008.11:g.60742393_60742394delinsTA	-
rs1329360838	p.Asn324Lys	missense variant	-	NC_000008.11:g.60742404C>A	gnomAD
NCI-TCGA novel	p.Asn324Ser	missense variant	-	NC_000008.11:g.60742403A>G	NCI-TCGA
RCV000781294	p.Asn325His	missense variant	-	NC_000008.11:g.60742405A>C	ClinVar
rs747112804	p.Met328Leu	missense variant	-	NC_000008.11:g.60742414A>T	ExAC,TOPMed,gnomAD
rs777040556	p.Asn329Ser	missense variant	-	NC_000008.11:g.60742418A>G	ExAC,gnomAD
rs768807046	p.Asn329Tyr	missense variant	-	NC_000008.11:g.60742417A>T	ExAC,gnomAD
RCV000258133	p.Asn329Ser	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60742418A>G	ClinVar
rs1053945677	p.Gln330Glu	missense variant	-	NC_000008.11:g.60742420C>G	TOPMed,gnomAD
rs762094119	p.Leu334Phe	missense variant	-	NC_000008.11:g.60742432C>T	ExAC,gnomAD
rs1272000267	p.Thr335Lys	missense variant	-	NC_000008.11:g.60742436C>A	TOPMed
RCV000258083	p.Asn336Asp	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60742438A>G	ClinVar
rs886040979	p.Asn336Asp	missense variant	-	NC_000008.11:g.60742438A>G	TOPMed
rs1340427164	p.Asn336Ser	missense variant	-	NC_000008.11:g.60742439A>G	TOPMed
rs765693143	p.Asn337Lys	missense variant	-	NC_000008.11:g.60742443T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn337Thr	missense variant	-	NC_000008.11:g.60742442A>C	NCI-TCGA
rs1274212298	p.Pro339Ala	missense variant	-	NC_000008.11:g.60742447C>G	gnomAD
RCV000258102	p.Met340Val	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60742450A>G	ClinVar
rs41305525	p.Met340Val	missense variant	-	NC_000008.11:g.60742450A>G	UniProt,dbSNP
VAR_048731	p.Met340Val	missense variant	-	NC_000008.11:g.60742450A>G	UniProt
rs41305525	p.Met340Val	missense variant	-	NC_000008.11:g.60742450A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000081818	p.Met340Val	missense variant	-	NC_000008.11:g.60742450A>G	ClinVar
rs763310622	p.Gln342Arg	missense variant	-	NC_000008.11:g.60742457A>G	ExAC,gnomAD
rs754874152	p.Ser343Cys	missense variant	-	NC_000008.11:g.60742460C>G	ExAC,gnomAD
rs199919181	p.Val344Ile	missense variant	-	NC_000008.11:g.60742462G>A	ESP,ExAC,TOPMed,gnomAD
RCV000270140	p.Val344Ile	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60742462G>A	ClinVar
RCV000322922	p.Val344Ile	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60742462G>A	ClinVar
rs747263275	p.Pro348Thr	missense variant	-	NC_000008.11:g.60742474C>A	gnomAD
RCV000685335	p.Asn349Ser	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60742478A>G	ClinVar
rs200644351	p.Asn349Ser	missense variant	-	NC_000008.11:g.60742478A>G	ESP,ExAC,TOPMed,gnomAD
RCV000515044	p.Asn349Ser	missense variant	-	NC_000008.11:g.60742478A>G	ClinVar
rs199953550	p.Val351Ile	missense variant	-	NC_000008.11:g.60742483G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000467254	p.Phe353Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60742490del	ClinVar
NCI-TCGA novel	p.Phe353Leu	missense variant	-	NC_000008.11:g.60742491C>G	NCI-TCGA
COSM3650066	p.Pro354Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60742492C>T	NCI-TCGA Cosmic
rs878893652	p.Pro354Ala	missense variant	-	NC_000008.11:g.60742492C>G	gnomAD
RCV000484850	p.Pro354Ala	missense variant	-	NC_000008.11:g.60742492C>G	ClinVar
RCV000599588	p.Pro354Ter	frameshift	-	NC_000008.11:g.60742493del	ClinVar
COSM751081	p.Ser355Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60742495T>C	NCI-TCGA Cosmic
rs745778752	p.Gly358Cys	missense variant	-	NC_000008.11:g.60742504G>T	ExAC,gnomAD
RCV000258132	p.Gly358Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60742505del	ClinVar
COSM3900856	p.Gln359Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60742507C>G	NCI-TCGA Cosmic
rs768895123	p.Gly360Ala	missense variant	-	NC_000008.11:g.60742511G>C	ExAC,gnomAD
rs748181926	p.Met362Thr	missense variant	-	NC_000008.11:g.60742517T>C	ExAC,gnomAD
rs776844402	p.Met362Leu	missense variant	-	NC_000008.11:g.60742516A>T	ExAC,gnomAD
rs1259788628	p.His363Pro	missense variant	-	NC_000008.11:g.60742520A>C	gnomAD
rs1216135930	p.His363Tyr	missense variant	-	NC_000008.11:g.60742519C>T	gnomAD
rs727503860	p.Gln364Ter	stop gained	-	NC_000008.11:g.60742522C>T	-
RCV000405637	p.Gln364Ter	nonsense	-	NC_000008.11:g.60742522C>T	ClinVar
NCI-TCGA novel	p.Gln364Leu	missense variant	-	NC_000008.11:g.60742523A>T	NCI-TCGA
rs376900677	p.Gln365His	missense variant	-	NC_000008.11:g.60742527G>C	ESP,ExAC,TOPMed,gnomAD
COSM3900857	p.Pro366Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60742528C>T	NCI-TCGA Cosmic
rs773444032	p.Ile367Thr	missense variant	-	NC_000008.11:g.60742532T>C	ExAC,gnomAD
rs1201445531	p.Ile367Val	missense variant	-	NC_000008.11:g.60742531A>G	TOPMed
rs1282515563	p.Ile367Met	missense variant	-	NC_000008.11:g.60742533C>G	gnomAD
rs1490493822	p.His368Pro	missense variant	-	NC_000008.11:g.60742535A>C	TOPMed
rs766747354	p.Pro369Ser	missense variant	-	NC_000008.11:g.60742537C>T	ExAC,TOPMed,gnomAD
rs766747354	p.Pro369Ala	missense variant	-	NC_000008.11:g.60742537C>G	ExAC,TOPMed,gnomAD
rs1005909293	p.Gly371Val	missense variant	-	NC_000008.11:g.60742544G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ser372Ter	stop gained	-	NC_000008.11:g.60742547C>A	NCI-TCGA
rs371635934	p.Leu373Phe	missense variant	-	NC_000008.11:g.60742549C>T	ESP,ExAC,TOPMed,gnomAD
rs1057520734	p.Gln375Ter	stop gained	-	NC_000008.11:g.60742555C>T	-
RCV000441742	p.Gln375Ter	nonsense	-	NC_000008.11:g.60742555C>T	ClinVar
rs1317332713	p.Met376Val	missense variant	-	NC_000008.11:g.60742558A>G	TOPMed
rs1276391948	p.Met376Thr	missense variant	-	NC_000008.11:g.60742559T>C	TOPMed
NCI-TCGA novel	p.Gln379Ter	stop gained	-	NC_000008.11:g.60742567C>T	NCI-TCGA
rs144778638	p.Met381Val	missense variant	-	NC_000008.11:g.60742573A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs760161762	p.Pro383Ser	missense variant	-	NC_000008.11:g.60742579C>T	ExAC,gnomAD
rs763681646	p.Ser384Leu	missense variant	-	NC_000008.11:g.60742583C>T	ExAC,gnomAD
rs1349009827	p.Pro386Ser	missense variant	-	NC_000008.11:g.60742588C>T	TOPMed,gnomAD
rs753477347	p.Gln387Arg	missense variant	-	NC_000008.11:g.60742592A>G	ExAC,gnomAD
NCI-TCGA novel	p.Gln387His	missense variant	-	NC_000008.11:g.60742593G>T	NCI-TCGA
rs757050240	p.Gly388Glu	missense variant	-	NC_000008.11:g.60742595G>A	ExAC,TOPMed,gnomAD
rs554737227	p.Tyr390Ter	stop gained	-	NC_000008.11:g.60742602T>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000427644	p.Tyr390Ter	nonsense	-	NC_000008.11:g.60742602T>G	ClinVar
rs191435594	p.Ala391Gly	missense variant	-	NC_000008.11:g.60742604C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs191435594	p.Ala391Val	missense variant	-	NC_000008.11:g.60742604C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs373112189	p.Ser392Phe	missense variant	-	NC_000008.11:g.60742607C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro393Ala	missense variant	-	NC_000008.11:g.60742609C>G	NCI-TCGA
rs182061582	p.Pro394Ser	missense variant	-	NC_000008.11:g.60742612C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1178042244	p.Pro395Ala	missense variant	-	NC_000008.11:g.60742615C>G	TOPMed
RCV000282872	p.Met396Ile	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60742620G>T	ClinVar
rs201653177	p.Met396Ile	missense variant	-	NC_000008.11:g.60742620G>T	ESP,ExAC,TOPMed,gnomAD
rs761942903	p.Met396Val	missense variant	-	NC_000008.11:g.60742618A>G	ExAC,gnomAD
rs201653177	p.Met396Ile	missense variant	-	NC_000008.11:g.60742620G>A	ESP,ExAC,TOPMed,gnomAD
rs749499911	p.Met396Thr	missense variant	-	NC_000008.11:g.60742619T>C	ExAC,gnomAD
NCI-TCGA novel	p.Pro398Leu	missense variant	-	NC_000008.11:g.60742625C>T	NCI-TCGA
rs1156609341	p.Met399Val	missense variant	-	NC_000008.11:g.60742627A>G	gnomAD
NCI-TCGA novel	p.Ala401Thr	missense variant	-	NC_000008.11:g.60742633G>A	NCI-TCGA
rs772570235	p.Met402Val	missense variant	-	NC_000008.11:g.60742636A>G	ExAC,TOPMed,gnomAD
rs775931738	p.Met402Thr	missense variant	-	NC_000008.11:g.60742637T>C	ExAC,gnomAD
COSM751079	p.Pro405Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60742646C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro405Ser	missense variant	-	NC_000008.11:g.60742645C>T	NCI-TCGA
rs1391622750	p.Ala406Val	missense variant	-	NC_000008.11:g.60742649C>T	gnomAD
NCI-TCGA novel	p.Ala406GlnPheSerTerUnkUnk	frameshift	-	NC_000008.11:g.60742648G>-	NCI-TCGA
rs1233275297	p.Thr408Ile	missense variant	-	NC_000008.11:g.60742655C>T	TOPMed
rs760121832	p.Thr408Pro	missense variant	-	NC_000008.11:g.60742654A>C	ExAC,gnomAD
rs1554581580	p.Pro409Ser	missense variant	-	NC_000008.11:g.60742657C>T	-
RCV000622791	p.Pro409Ser	missense variant	Inborn genetic diseases	NC_000008.11:g.60742657C>T	ClinVar
RCV000175891	p.Pro409Ter	frameshift	-	NC_000008.11:g.60742656_60742666del	ClinVar
rs1199435004	p.Pro410Leu	missense variant	-	NC_000008.11:g.60742661C>T	TOPMed
rs763637398	p.Pro410Ser	missense variant	-	NC_000008.11:g.60742660C>T	ExAC
rs1317536901	p.Pro411Ser	missense variant	-	NC_000008.11:g.60742663C>T	TOPMed
rs753472856	p.Gln412His	missense variant	-	NC_000008.11:g.60742668A>C	ExAC,TOPMed,gnomAD
rs1021434443	p.Val413Gly	missense variant	-	NC_000008.11:g.60742670T>G	TOPMed
rs761520772	p.Arg414Lys	missense variant	-	NC_000008.11:g.60742673G>A	ExAC,gnomAD
rs541292469	p.Arg414Ser	missense variant	-	NC_000008.11:g.60742674G>T	1000Genomes
rs1313265725	p.Pro415Ser	missense variant	-	NC_000008.11:g.60742675C>T	TOPMed
rs765180149	p.Pro415Leu	missense variant	-	NC_000008.11:g.60742676C>T	ExAC,TOPMed,gnomAD
rs587783428	p.Gly416Arg	missense variant	-	NC_000008.11:g.60742678G>A	gnomAD
rs1240008077	p.Gly416Glu	missense variant	-	NC_000008.11:g.60742679G>A	gnomAD
rs587783428	p.Gly416Ter	stop gained	-	NC_000008.11:g.60742678G>T	gnomAD
RCV000145652	p.Gly416Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60742678G>T	ClinVar
rs1332728138	p.Ile420Met	missense variant	-	NC_000008.11:g.60742692A>G	TOPMed,gnomAD
rs1272682114	p.Ile420Leu	missense variant	-	NC_000008.11:g.60742690A>T	TOPMed,gnomAD
rs758228667	p.Pro421Thr	missense variant	-	NC_000008.11:g.60742693C>A	ExAC,TOPMed,gnomAD
RCV000487421	p.Met422Val	missense variant	-	NC_000008.11:g.60742696A>G	ClinVar
rs1064795809	p.Met422Val	missense variant	-	NC_000008.11:g.60742696A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Glu423Ter	stop gained	-	NC_000008.11:g.60742699G>T	NCI-TCGA
NCI-TCGA novel	p.Val424Phe	missense variant	-	NC_000008.11:g.60742702G>T	NCI-TCGA
rs751492707	p.Ser426Gly	missense variant	-	NC_000008.11:g.60742708A>G	ExAC,gnomAD
rs1376601472	p.Ser426Asn	missense variant	-	NC_000008.11:g.60742709G>A	TOPMed
RCV000436386	p.Tyr427Ter	nonsense	-	NC_000008.11:g.60742713T>A	ClinVar
rs373942842	p.Tyr427Ter	stop gained	-	NC_000008.11:g.60742713T>A	ESP,ExAC,TOPMed,gnomAD
rs1166269859	p.Pro428Leu	missense variant	-	NC_000008.11:g.60742715C>T	gnomAD
rs777909439	p.Pro428Ala	missense variant	-	NC_000008.11:g.60742714C>G	ExAC,gnomAD
rs771200821	p.Asn429Asp	missense variant	-	NC_000008.11:g.60742717A>G	ExAC,TOPMed,gnomAD
rs771200821	p.Asn429His	missense variant	-	NC_000008.11:g.60742717A>C	ExAC,TOPMed,gnomAD
rs779037108	p.Met430Ile	missense variant	-	NC_000008.11:g.60742722G>T	ExAC,gnomAD
rs1408372207	p.His432Arg	missense variant	-	NC_000008.11:g.60742727A>G	TOPMed
RCV000659295	p.His432Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60742726del	ClinVar
NCI-TCGA novel	p.Gln434Ter	stop gained	-	NC_000008.11:g.60742732C>T	NCI-TCGA
rs1395855672	p.Pro435Ser	missense variant	-	NC_000008.11:g.60742735C>T	gnomAD
rs1001403179	p.Pro435Leu	missense variant	-	NC_000008.11:g.60742736C>T	TOPMed,gnomAD
rs746261185	p.His437Arg	missense variant	-	NC_000008.11:g.60742742A>G	ExAC,gnomAD
rs1461912534	p.His437Tyr	missense variant	-	NC_000008.11:g.60742741C>T	gnomAD
RCV000634421	p.Gln438Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60742744C>T	ClinVar
rs1554581657	p.Gln438Ter	stop gained	-	NC_000008.11:g.60742744C>T	-
rs772369092	p.Pro439Ala	missense variant	-	NC_000008.11:g.60742747C>G	ExAC,TOPMed,gnomAD
rs772369092	p.Pro439Ser	missense variant	-	NC_000008.11:g.60742747C>T	ExAC,TOPMed,gnomAD
rs1292944097	p.Pro440Leu	missense variant	-	NC_000008.11:g.60742751C>T	gnomAD
rs1292944097	p.Pro440Arg	missense variant	-	NC_000008.11:g.60742751C>G	gnomAD
NCI-TCGA novel	p.Pro440Thr	missense variant	-	NC_000008.11:g.60742750C>A	NCI-TCGA
rs1236622727	p.Gly441Asp	missense variant	-	NC_000008.11:g.60742754G>A	TOPMed
rs1353746682	p.Gly441Ser	missense variant	-	NC_000008.11:g.60742753G>A	gnomAD
rs1353746682	p.Gly441Cys	missense variant	-	NC_000008.11:g.60742753G>T	gnomAD
rs1353746682	p.Gly441Arg	missense variant	-	NC_000008.11:g.60742753G>C	gnomAD
rs368086966	p.Ala442Thr	missense variant	-	NC_000008.11:g.60742756G>A	ESP,ExAC,TOPMed,gnomAD
rs559364802	p.Met443Val	missense variant	-	NC_000008.11:g.60742759A>G	1000Genomes,ExAC,gnomAD
rs772951698	p.Gly446Glu	missense variant	-	NC_000008.11:g.60742769G>A	ExAC,gnomAD
rs765014704	p.Gly446Arg	missense variant	-	NC_000008.11:g.60742768G>A	ExAC,gnomAD
RCV000578185	p.Arg448Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60742772_60742773AG[1]	ClinVar
rs1208556547	p.Asn449Ser	missense variant	-	NC_000008.11:g.60742778A>G	TOPMed
rs762891322	p.Met450Arg	missense variant	-	NC_000008.11:g.60742781T>G	ExAC,TOPMed,gnomAD
rs762891322	p.Met450Thr	missense variant	-	NC_000008.11:g.60742781T>C	ExAC,TOPMed,gnomAD
rs1475943467	p.Gly451Ser	missense variant	-	NC_000008.11:g.60742783G>A	gnomAD
rs1418145974	p.Arg453Gly	missense variant	-	NC_000008.11:g.60742789A>G	gnomAD
rs766249962	p.Asn454Ser	missense variant	-	NC_000008.11:g.60742793A>G	ExAC,TOPMed,gnomAD
rs529934598	p.Met455Val	missense variant	-	NC_000008.11:g.60742795A>G	1000Genomes,ExAC,gnomAD
rs548074036	p.Gln456Glu	missense variant	-	NC_000008.11:g.60742798C>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Gln456Leu	missense variant	-	NC_000008.11:g.60742799A>T	NCI-TCGA
RCV000277238	p.Gln457Ter	nonsense	-	NC_000008.11:g.60742801C>T	ClinVar
rs727503861	p.Gln457Ter	stop gained	-	NC_000008.11:g.60742801C>T	-
rs1462838324	p.Gln457Pro	missense variant	-	NC_000008.11:g.60742802A>C	gnomAD
rs767302034	p.Ser458Cys	missense variant	-	NC_000008.11:g.60742805C>G	ExAC,gnomAD
rs753953205	p.Arg459Cys	missense variant	-	NC_000008.11:g.60742807C>T	ExAC,TOPMed,gnomAD
rs563490827	p.Arg459His	missense variant	-	NC_000008.11:g.60742808G>A	1000Genomes,ExAC,gnomAD
rs779125003	p.Pro460Thr	missense variant	-	NC_000008.11:g.60742810C>A	ExAC,gnomAD
rs758801802	p.Ile462Val	missense variant	-	NC_000008.11:g.60742816A>G	ExAC,gnomAD
rs1316655280	p.Met464Leu	missense variant	-	NC_000008.11:g.60742822A>T	TOPMed
rs780392912	p.Met464Ile	missense variant	-	NC_000008.11:g.60742824G>T	ExAC,gnomAD
rs932744993	p.Ser465Ala	missense variant	-	NC_000008.11:g.60742825T>G	TOPMed
COSM1314132	p.Ser465Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60742826C>A	NCI-TCGA Cosmic
rs71640285	p.Ser466Leu	missense variant	-	NC_000008.11:g.60742829C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000659296	p.Ser466Leu	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60742829C>T	ClinVar
rs1361160813	p.Pro468Ser	missense variant	-	NC_000008.11:g.60742834C>T	TOPMed
rs868107005	p.Arg469Gly	missense variant	-	NC_000008.11:g.60742837A>G	gnomAD
NCI-TCGA novel	p.Glu470Lys	missense variant	-	NC_000008.11:g.60742840G>A	NCI-TCGA
NCI-TCGA novel	p.Leu471PhePheSerTerUnkUnkUnk	frameshift	-	NC_000008.11:g.60742842_60742843insT	NCI-TCGA
rs747717847	p.Gly473Arg	missense variant	-	NC_000008.11:g.60742849G>A	ExAC,gnomAD
RCV000334305	p.Met475Leu	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60742855A>T	ClinVar
RCV000281577	p.Met475Leu	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60742855A>T	ClinVar
rs773039925	p.Met475Leu	missense variant	-	NC_000008.11:g.60742855A>T	ExAC,TOPMed,gnomAD
rs749781761	p.Met475Thr	missense variant	-	NC_000008.11:g.60742856T>C	ExAC,TOPMed,gnomAD
rs773039925	p.Met475Val	missense variant	-	NC_000008.11:g.60742855A>G	ExAC,TOPMed,gnomAD
RCV000736066	p.Met475Val	missense variant	-	NC_000008.11:g.60742855A>G	ClinVar
rs766339850	p.Arg476Ser	missense variant	-	NC_000008.11:g.60742860G>T	ExAC,TOPMed,gnomAD
rs774211699	p.Pro477Ser	missense variant	-	NC_000008.11:g.60742861C>T	ExAC,gnomAD
rs1173477842	p.Asn478Ser	missense variant	-	NC_000008.11:g.60742865A>G	gnomAD
rs375860192	p.Asn478Asp	missense variant	-	NC_000008.11:g.60742864A>G	ESP,ExAC,gnomAD
rs1255487219	p.Gly479Asp	missense variant	-	NC_000008.11:g.60742868G>A	TOPMed
rs911422083	p.Gly482Asp	missense variant	-	NC_000008.11:g.60742877G>A	TOPMed
rs767518147	p.Gly482Ser	missense variant	-	NC_000008.11:g.60742876G>A	ExAC,TOPMed,gnomAD
rs767518147	p.Gly482Cys	missense variant	-	NC_000008.11:g.60742876G>T	ExAC,TOPMed,gnomAD
rs911422083	p.Gly482Ala	missense variant	-	NC_000008.11:g.60742877G>C	TOPMed
NCI-TCGA novel	p.Val483Phe	missense variant	-	NC_000008.11:g.60742879G>T	NCI-TCGA
rs1446745630	p.Gly484Val	missense variant	-	NC_000008.11:g.60742883G>T	TOPMed,gnomAD
rs1446745630	p.Gly484Asp	missense variant	-	NC_000008.11:g.60742883G>A	TOPMed,gnomAD
rs1313748646	p.Leu485Pro	missense variant	-	NC_000008.11:g.60742886T>C	TOPMed,gnomAD
rs752526149	p.Gly486Val	missense variant	-	NC_000008.11:g.60742889G>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp487Glu	missense variant	-	NC_000008.11:g.60742893C>A	NCI-TCGA
rs757372961	p.Pro488Arg	missense variant	-	NC_000008.11:g.60742895C>G	ExAC,TOPMed,gnomAD
rs757372961	p.Pro488Leu	missense variant	-	NC_000008.11:g.60742895C>T	ExAC,TOPMed,gnomAD
rs794727298	p.Gln489Ter	stop gained	-	NC_000008.11:g.60742897C>T	-
RCV000254940	p.Gln489Ter	nonsense	-	NC_000008.11:g.60742897C>T	ClinVar
rs1383452692	p.Ile491Asn	missense variant	-	NC_000008.11:g.60742904T>A	TOPMed
rs1301038949	p.Gln492Arg	missense variant	-	NC_000008.11:g.60742907A>G	gnomAD
rs587783429	p.Arg494Ter	stop gained	-	NC_000008.11:g.60742912C>T	-
rs1024117364	p.Arg494Gln	missense variant	-	NC_000008.11:g.60742913G>A	TOPMed,gnomAD
RCV000413726	p.Arg494Ter	nonsense	-	NC_000008.11:g.60742912C>T	ClinVar
RCV000145653	p.Arg494Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60742912C>T	ClinVar
rs758605710	p.Pro497Thr	missense variant	-	NC_000008.11:g.60742921C>A	ExAC,gnomAD
RCV000168287	p.Pro497Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60742920dup	ClinVar
rs547298242	p.Gly498Asp	missense variant	-	NC_000008.11:g.60742925G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1417820240	p.Gly498Ser	missense variant	-	NC_000008.11:g.60742924G>A	TOPMed
RCV000598100	p.Gln500Arg	missense variant	-	NC_000008.11:g.60742931A>G	ClinVar
rs1465792260	p.Gln500Arg	missense variant	-	NC_000008.11:g.60742931A>G	TOPMed,gnomAD
rs1251568366	p.His501Arg	missense variant	-	NC_000008.11:g.60742934A>G	gnomAD
rs969768020	p.His501Tyr	missense variant	-	NC_000008.11:g.60742933C>T	TOPMed,gnomAD
rs755250885	p.His501Gln	missense variant	-	NC_000008.11:g.60742935T>A	ExAC,gnomAD
RCV000199561	p.Pro502Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60742937del	ClinVar
rs1173461310	p.Gly503Arg	missense variant	-	NC_000008.11:g.60742939G>C	gnomAD
RCV000626943	p.Gln505Ter	nonsense	-	NC_000008.11:g.60742945C>T	ClinVar
rs1001211309	p.Gln505Leu	missense variant	-	NC_000008.11:g.60742946A>T	TOPMed
rs1554581757	p.Gln505Ter	stop gained	-	NC_000008.11:g.60742945C>T	-
rs758382008	p.Pro506Ala	missense variant	-	NC_000008.11:g.60742948C>G	TOPMed,gnomAD
rs1399171333	p.Ser507Cys	missense variant	-	NC_000008.11:g.60742952C>G	gnomAD
NCI-TCGA novel	p.Phe508Val	missense variant	-	NC_000008.11:g.60742954T>G	NCI-TCGA
NCI-TCGA novel	p.Gln509Leu	missense variant	-	NC_000008.11:g.60742958A>T	NCI-TCGA
rs1161443702	p.Leu511Ser	missense variant	-	NC_000008.11:g.60742964T>C	gnomAD
VAR_069032	p.Leu511Val	Missense	-	-	UniProt
rs748635676	p.Pro512Ala	missense variant	-	NC_000008.11:g.60742966C>G	ExAC,gnomAD
COSM3834873	p.Thr513Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60742969A>T	NCI-TCGA Cosmic
rs1323841522	p.Thr513Ser	missense variant	-	NC_000008.11:g.60742970C>G	gnomAD
rs957224882	p.Thr513Ala	missense variant	-	NC_000008.11:g.60742969A>G	TOPMed
rs748754045	p.Cys514Ser	missense variant	-	NC_000008.11:g.60742973G>C	ExAC
rs1210884047	p.Pro515Ala	missense variant	-	NC_000008.11:g.60742975C>G	TOPMed
COSM3650067	p.Pro515Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60742975C>T	NCI-TCGA Cosmic
RCV000417049	p.Gln518Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60742984C>T	ClinVar
rs369284507	p.Gln518His	missense variant	-	NC_000008.11:g.60742986G>T	ESP,ExAC,TOPMed,gnomAD
rs1057519423	p.Gln518Ter	stop gained	-	NC_000008.11:g.60742984C>T	-
rs369284507	p.Gln518His	missense variant	-	NC_000008.11:g.60742986G>C	ESP,ExAC,TOPMed,gnomAD
rs773831895	p.Gln518Arg	missense variant	-	NC_000008.11:g.60742985A>G	ExAC,TOPMed,gnomAD
rs1333490432	p.Pro519Leu	missense variant	-	NC_000008.11:g.60742988C>T	TOPMed,gnomAD
rs1333490432	p.Pro519His	missense variant	-	NC_000008.11:g.60742988C>A	TOPMed,gnomAD
rs775535376	p.Pro519Ser	missense variant	-	NC_000008.11:g.60742987C>T	ExAC,gnomAD
rs1271840526	p.His520Gln	missense variant	-	NC_000008.11:g.60742992C>G	gnomAD
rs1211221117	p.His520Tyr	missense variant	-	NC_000008.11:g.60742990C>T	gnomAD
rs373211059	p.Pro521Leu	missense variant	-	NC_000008.11:g.60742994C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142962579	p.Gly522Val	missense variant	-	NC_000008.11:g.60742997G>T	UniProt,dbSNP
VAR_068111	p.Gly522Val	missense variant	-	NC_000008.11:g.60742997G>T	UniProt
rs142962579	p.Gly522Val	missense variant	-	NC_000008.11:g.60742997G>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000229697	p.Gly522Val	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60742997G>T	ClinVar
rs762953167	p.His524Tyr	missense variant	-	NC_000008.11:g.60743002C>T	ExAC,gnomAD
VAR_069033	p.Ser527Ala	Missense	-	-	UniProt
rs1412919986	p.Pro529Ser	missense variant	-	NC_000008.11:g.60743017C>T	gnomAD
rs1162813452	p.Pro532Arg	missense variant	-	NC_000008.11:g.60743027C>G	gnomAD
rs766647201	p.His533Tyr	missense variant	-	NC_000008.11:g.60743029C>T	ExAC,gnomAD
RCV000659297	p.His533Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60743029_60743030insT	ClinVar
NCI-TCGA novel	p.His533Asn	missense variant	-	NC_000008.11:g.60743029C>A	NCI-TCGA
rs1386056055	p.His534Gln	missense variant	-	NC_000008.11:g.60743034C>A	TOPMed
rs1405883701	p.His534Asn	missense variant	-	NC_000008.11:g.60743032C>A	gnomAD
rs751709941	p.Gln535Lys	missense variant	-	NC_000008.11:g.60743035C>A	ExAC
NCI-TCGA novel	p.Gln535Ter	stop gained	-	NC_000008.11:g.60743035C>T	NCI-TCGA
rs1328000952	p.Ala538Val	missense variant	-	NC_000008.11:g.60743045C>T	gnomAD
rs1388338640	p.His541Arg	missense variant	-	NC_000008.11:g.60743054A>G	TOPMed
rs753316501	p.Gln545Arg	missense variant	-	NC_000008.11:g.60743066A>G	ExAC,gnomAD
rs778361949	p.Pro548Leu	missense variant	-	NC_000008.11:g.60743075C>T	ExAC,TOPMed,gnomAD
rs756704356	p.Pro548Ser	missense variant	-	NC_000008.11:g.60743074C>T	ExAC,gnomAD
rs745476515	p.Val553Leu	missense variant	-	NC_000008.11:g.60743089G>T	ExAC,gnomAD
rs1272788002	p.His554Pro	missense variant	-	NC_000008.11:g.60743093A>C	gnomAD
rs200024753	p.Gln555Lys	missense variant	-	NC_000008.11:g.60743095C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln555Ter	stop gained	-	NC_000008.11:g.60743095C>T	NCI-TCGA
rs1169047370	p.Ser557Phe	missense variant	-	NC_000008.11:g.60781004C>T	gnomAD
rs746837682	p.Pro558Ala	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60781006C>G	UniProt,dbSNP
VAR_068112	p.Pro558Ala	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60781006C>G	UniProt
rs746837682	p.Pro558Ala	missense variant	-	NC_000008.11:g.60781006C>G	ExAC,TOPMed,gnomAD
rs777480283	p.Pro558Leu	missense variant	-	NC_000008.11:g.60781007C>T	ExAC,TOPMed,gnomAD
rs777480283	p.Pro558Gln	missense variant	-	NC_000008.11:g.60781007C>A	ExAC,TOPMed,gnomAD
rs1402410171	p.Ser559Leu	missense variant	-	NC_000008.11:g.60781010C>T	gnomAD
rs759596157	p.Glu560Lys	missense variant	-	NC_000008.11:g.60781012G>A	ExAC,TOPMed,gnomAD
RCV000194479	p.Glu560Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60781012dup	ClinVar
rs1231245538	p.Pro561Thr	missense variant	-	NC_000008.11:g.60781015C>A	gnomAD
rs775810287	p.Pro561Leu	missense variant	-	NC_000008.11:g.60781016C>T	ExAC,gnomAD
rs1344717812	p.Phe562Leu	missense variant	-	NC_000008.11:g.60781018T>C	TOPMed
COSM3900859	p.Leu563Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60781021C>G	NCI-TCGA Cosmic
rs1232502101	p.Glu564Asp	missense variant	-	NC_000008.11:g.60781026G>T	gnomAD
rs754461179	p.Pro566Gln	missense variant	-	NC_000008.11:g.60781031C>A	ExAC,TOPMed,gnomAD
rs764518030	p.Pro566Ala	missense variant	-	NC_000008.11:g.60781030C>G	ExAC,TOPMed,gnomAD
rs1356452967	p.Pro568Thr	missense variant	-	NC_000008.11:g.60781036C>A	TOPMed
rs757689264	p.Pro568Leu	missense variant	-	NC_000008.11:g.60781037C>T	ExAC,gnomAD
rs757885932	p.Met570Val	missense variant	-	NC_000008.11:g.60781042A>G	ExAC,TOPMed,gnomAD
rs1468940013	p.Gln572Arg	missense variant	-	NC_000008.11:g.60781049A>G	gnomAD
rs886039527	p.Gln572Ter	stop gained	-	NC_000008.11:g.60781048C>T	-
RCV000255326	p.Gln572Ter	nonsense	-	NC_000008.11:g.60781048C>T	ClinVar
rs1189095063	p.Gln572His	missense variant	-	NC_000008.11:g.60781050G>C	gnomAD
rs373241103	p.Gly575Ala	missense variant	-	NC_000008.11:g.60781058G>C	ESP,ExAC,TOPMed,gnomAD
rs746633621	p.Pro576Leu	missense variant	-	NC_000008.11:g.60781061C>T	ExAC,TOPMed,gnomAD
RCV000634440	p.Pro576Leu	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60781061C>T	ClinVar
rs747922099	p.Gln579His	missense variant	-	NC_000008.11:g.60781071G>C	ExAC,TOPMed,gnomAD
rs780953224	p.Gln579Glu	missense variant	-	NC_000008.11:g.60781069C>G	ExAC,gnomAD
RCV000542683	p.Gln579Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60781069C>T	ClinVar
rs1156366893	p.Gln579Pro	missense variant	-	NC_000008.11:g.60781070A>C	gnomAD
rs780953224	p.Gln579Ter	stop gained	-	NC_000008.11:g.60781069C>T	ExAC,gnomAD
RCV000486414	p.Asp585Tyr	missense variant	-	NC_000008.11:g.60781087G>T	ClinVar
rs1064794401	p.Asp585Tyr	missense variant	-	NC_000008.11:g.60781087G>T	-
rs866602168	p.Leu587Met	missense variant	-	NC_000008.11:g.60781093C>A	gnomAD
rs866602168	p.Leu587Val	missense variant	-	NC_000008.11:g.60781093C>G	gnomAD
COSM3650068	p.Pro588Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60781096C>T	NCI-TCGA Cosmic
rs1481429606	p.Ser589Thr	missense variant	-	NC_000008.11:g.60781099T>A	TOPMed
rs769625033	p.Ile590Val	missense variant	-	NC_000008.11:g.60781102A>G	ExAC,TOPMed,gnomAD
rs568525349	p.Ile590Thr	missense variant	-	NC_000008.11:g.60781103T>C	1000Genomes,ExAC,gnomAD
rs745960818	p.Gln592His	missense variant	-	NC_000008.11:g.60781110G>C	ExAC,gnomAD
rs958865612	p.Pro594Ser	missense variant	-	NC_000008.11:g.60781114C>T	TOPMed,gnomAD
rs772252115	p.Gln596Glu	missense variant	-	NC_000008.11:g.60781120C>G	ExAC,gnomAD
VAR_068384	p.Gln596Lys	Missense	-	-	UniProt
COSM260091	p.Lys597Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60781125G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys599Asn	missense variant	-	NC_000008.11:g.60781131G>C	NCI-TCGA
rs775890348	p.Lys600Glu	missense variant	-	NC_000008.11:g.60781132A>G	ExAC,gnomAD
rs1467028739	p.Lys601Arg	missense variant	-	NC_000008.11:g.60781136A>G	gnomAD
RCV000489678	p.Lys601Ter	frameshift	-	NC_000008.11:g.60781131del	ClinVar
rs760971730	p.Lys601Glu	missense variant	-	NC_000008.11:g.60781135A>G	ExAC,gnomAD
RCV000802920	p.Lys602Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60781137_60781140del	ClinVar
RCV000627640	p.Lys602Ter	frameshift	-	NC_000008.11:g.60781137_60781140del	ClinVar
RCV000623092	p.Asn603Ter	frameshift	Inborn genetic diseases	NC_000008.11:g.60781142dup	ClinVar
COSM1457694	p.Asn603Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60781142A>G	NCI-TCGA Cosmic
rs1195342247	p.Asn603Lys	missense variant	-	NC_000008.11:g.60781143C>A	TOPMed,gnomAD
rs764607908	p.Asn604Lys	missense variant	-	NC_000008.11:g.60781146C>A	ExAC,TOPMed,gnomAD
RCV000258150	p.Asn604Lys	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60781146C>A	ClinVar
NCI-TCGA novel	p.Asn604LysPheSerTerUnkUnk	frameshift	-	NC_000008.11:g.60781143_60781144insA	NCI-TCGA
rs534225918	p.His605Asp	missense variant	-	NC_000008.11:g.60781147C>G	ExAC,TOPMed,gnomAD
rs1179187323	p.Ile606Phe	missense variant	-	NC_000008.11:g.60781150A>T	gnomAD
rs762168448	p.Val607Ile	missense variant	-	NC_000008.11:g.60781153G>A	ExAC,TOPMed,gnomAD
rs1163512247	p.Ala608Val	missense variant	-	NC_000008.11:g.60781157C>T	gnomAD
NCI-TCGA novel	p.Ala608Thr	missense variant	-	NC_000008.11:g.60781156G>A	NCI-TCGA
rs765693773	p.Glu609Val	missense variant	-	NC_000008.11:g.60781160A>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp610Tyr	missense variant	-	NC_000008.11:g.60781162G>T	NCI-TCGA
rs1295700805	p.Gly614Cys	missense variant	-	NC_000008.11:g.60781174G>T	gnomAD
rs879211256	p.Phe615Ser	missense variant	-	NC_000008.11:g.60781178T>C	gnomAD
rs1391139960	p.Gly616Ser	missense variant	-	NC_000008.11:g.60781180G>A	gnomAD
rs201456469	p.Lys617Asn	missense variant	-	NC_000008.11:g.60781185A>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys617Glu	missense variant	-	NC_000008.11:g.60781183A>G	NCI-TCGA
rs1375813352	p.Asp619Ala	missense variant	-	NC_000008.11:g.60781190A>C	TOPMed
rs1352495187	p.Pro621Ser	missense variant	-	NC_000008.11:g.60781195C>T	gnomAD
NCI-TCGA novel	p.Pro621Leu	missense variant	-	NC_000008.11:g.60781196C>T	NCI-TCGA
rs1229088933	p.Pro621His	missense variant	-	NC_000008.11:g.60781196C>A	gnomAD
NCI-TCGA novel	p.Gly622Ser	missense variant	-	NC_000008.11:g.60781198G>A	NCI-TCGA
rs375905260	p.Gly623Arg	missense variant	-	NC_000008.11:g.60781201G>C	ESP,ExAC,TOPMed,gnomAD
rs375905260	p.Gly623Arg	missense variant	-	NC_000008.11:g.60781201G>A	ESP,ExAC,TOPMed,gnomAD
rs765870281	p.Val624Ile	missense variant	-	NC_000008.11:g.60781204G>A	ExAC,TOPMed,gnomAD
rs953329305	p.Asp625His	missense variant	-	NC_000008.11:g.60781207G>C	TOPMed
COSM4913354	p.Asn626Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60781212C>A	NCI-TCGA Cosmic
COSM260093	p.Glu628Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.60781216G>T	NCI-TCGA Cosmic
rs1193813174	p.Asn630His	missense variant	-	NC_000008.11:g.60781222A>C	gnomAD
rs1186672452	p.Arg631Lys	missense variant	-	NC_000008.11:g.60781226G>A	gnomAD
rs780759134	p.Arg631Gly	missense variant	-	NC_000008.11:g.60781225A>G	ExAC,gnomAD
rs1167562186	p.Asn632Ser	missense variant	-	NC_000008.11:g.60781229A>G	gnomAD
NCI-TCGA novel	p.Asn632Lys	missense variant	-	NC_000008.11:g.60781230C>A	NCI-TCGA
NCI-TCGA novel	p.Ser633Ter	stop gained	-	NC_000008.11:g.60781229_60781230insTTGAAATTAGTTT	NCI-TCGA
rs752468864	p.Asp635Val	missense variant	-	NC_000008.11:g.60781238A>T	ExAC,gnomAD
rs752468864	p.Asp635Gly	missense variant	-	NC_000008.11:g.60781238A>G	ExAC,gnomAD
rs529321177	p.Gly636Val	missense variant	-	NC_000008.11:g.60781241G>T	UniProt,dbSNP
VAR_068113	p.Gly636Val	missense variant	-	NC_000008.11:g.60781241G>T	UniProt
rs529321177	p.Gly636Val	missense variant	-	NC_000008.11:g.60781241G>T	1000Genomes,ExAC,gnomAD
rs1335682527	p.Lys641Glu	missense variant	-	NC_000008.11:g.60781255A>G	TOPMed,gnomAD
rs1312406319	p.Lys642Gln	missense variant	-	NC_000008.11:g.60781258A>C	gnomAD
RCV000634422	p.Lys642Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60781259del	ClinVar
NCI-TCGA novel	p.Lys645GluPheSerTerUnkUnk	frameshift	-	NC_000008.11:g.60781260_60781261insA	NCI-TCGA
rs772341596	p.Arg646Lys	missense variant	-	NC_000008.11:g.60781271G>A	ExAC,gnomAD
rs1313381352	p.Ser647Ala	missense variant	-	NC_000008.11:g.60781273T>G	gnomAD
rs1203697128	p.Lys648Glu	missense variant	-	NC_000008.11:g.60781276A>G	TOPMed
rs1306794432	p.Lys648Asn	missense variant	-	NC_000008.11:g.60781278G>C	gnomAD
rs1306794432	p.Lys648Asn	missense variant	-	NC_000008.11:g.60781278G>T	gnomAD
RCV000696619	p.Lys651Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60781286_60781289del	ClinVar
rs1276509961	p.Asp652Glu	missense variant	-	NC_000008.11:g.60781290C>A	TOPMed,gnomAD
COSM1457696	p.Asp652ThrPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.60781281A>-	NCI-TCGA Cosmic
rs200536932	p.Pro653Arg	missense variant	-	NC_000008.11:g.60781292C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1483205730	p.Pro653Ser	missense variant	-	NC_000008.11:g.60781291C>T	gnomAD
rs200536932	p.Pro653Leu	missense variant	-	NC_000008.11:g.60781292C>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM751073	p.Lys654Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60781296G>T	NCI-TCGA Cosmic
rs776871277	p.Pro656Arg	missense variant	-	NC_000008.11:g.60781301C>G	ExAC,TOPMed,gnomAD
rs769003426	p.Pro656Ser	missense variant	-	NC_000008.11:g.60781300C>T	ExAC,TOPMed,gnomAD
rs776871277	p.Pro656Leu	missense variant	-	NC_000008.11:g.60781301C>T	ExAC,TOPMed,gnomAD
rs1392393644	p.Pro659His	missense variant	-	NC_000008.11:g.60781310C>A	gnomAD
rs1168851284	p.Pro659Thr	missense variant	-	NC_000008.11:g.60781309C>A	gnomAD
rs1203308111	p.Pro665Arg	missense variant	-	NC_000008.11:g.60781328C>G	TOPMed,gnomAD
rs1373820202	p.Lys666Arg	missense variant	-	NC_000008.11:g.60781331A>G	gnomAD
rs1173281816	p.Lys666Glu	missense variant	-	NC_000008.11:g.60781330A>G	gnomAD
rs1450317272	p.Pro668Leu	missense variant	-	NC_000008.11:g.60781337C>T	gnomAD
rs1453381994	p.Pro668Thr	missense variant	-	NC_000008.11:g.60781336C>A	TOPMed
rs1254432275	p.Thr670Asn	missense variant	-	NC_000008.11:g.60781343C>A	TOPMed,gnomAD
rs370588681	p.Pro671Leu	missense variant	-	NC_000008.11:g.60781346C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370588681	p.Pro671Arg	missense variant	-	NC_000008.11:g.60781346C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000717452	p.Pro671Leu	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60781346C>T	ClinVar
rs1380432730	p.Ala673Val	missense variant	-	NC_000008.11:g.60781352C>T	gnomAD
rs1299595596	p.Pro674Arg	missense variant	-	NC_000008.11:g.60781355C>G	gnomAD
rs763438086	p.Lys675Arg	missense variant	-	NC_000008.11:g.60781358A>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro677Ser	missense variant	-	NC_000008.11:g.60781363C>T	NCI-TCGA
rs766815913	p.Lys681Glu	missense variant	-	NC_000008.11:g.60781375A>G	ExAC,TOPMed,gnomAD
RCV000481976	p.Ala685Ter	frameshift	-	NC_000008.11:g.60781386del	ClinVar
rs1210290882	p.Ala685Glu	missense variant	-	NC_000008.11:g.60781388C>A	gnomAD
VAR_072955	p.Ala685insAlaLys	inframe_insertion	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]	-	UniProt
rs751076918	p.Lys686Gln	missense variant	-	NC_000008.11:g.60781390A>C	ExAC,gnomAD
rs1187193827	p.Ala688Thr	missense variant	-	NC_000008.11:g.60781396G>A	TOPMed,gnomAD
rs759010289	p.Ala688Val	missense variant	-	NC_000008.11:g.60781397C>T	ExAC,gnomAD
RCV000634418	p.Ala688Thr	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60781396G>A	ClinVar
RCV000324330	p.Thr689Met	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60781400C>T	ClinVar
RCV000376666	p.Thr689Met	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60781400C>T	ClinVar
rs373706363	p.Thr689Met	missense variant	-	NC_000008.11:g.60781400C>T	ESP,ExAC,TOPMed,gnomAD
rs1423334732	p.Pro690Gln	missense variant	-	NC_000008.11:g.60781403C>A	gnomAD
rs755898600	p.Lys691Gln	missense variant	-	NC_000008.11:g.60781405A>C	ExAC,TOPMed,gnomAD
rs755898600	p.Lys691Glu	missense variant	-	NC_000008.11:g.60781405A>G	ExAC,TOPMed,gnomAD
rs1176956456	p.Ser694Phe	missense variant	-	NC_000008.11:g.60781415C>T	gnomAD
rs1173537400	p.Ser695Gly	missense variant	-	NC_000008.11:g.60781417A>G	gnomAD
NCI-TCGA novel	p.Lys696GluPheSerTerUnkUnk	frameshift	-	NC_000008.11:g.60781418_60781419insTGAGTTCCTATTTAGTTCTTGGTTATCTA	NCI-TCGA
rs1554588769	p.Lys696Ter	stop gained	-	NC_000008.11:g.60781420A>T	-
RCV000520570	p.Lys696Ter	nonsense	-	NC_000008.11:g.60781420A>T	ClinVar
RCV000699166	p.Lys697Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60781424del	ClinVar
NCI-TCGA novel	p.Lys697SerPheSerTerUnkUnk	frameshift	-	NC_000008.11:g.60781420A>-	NCI-TCGA
RCV000679948	p.Ser699Asn	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60781430G>A	ClinVar
rs767027265	p.Ser699Arg	missense variant	-	NC_000008.11:g.60794986T>G	ExAC,gnomAD
VAR_068114	p.Ser699Thr	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
VAR_068385	p.Ser699Gly	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
rs370267935	p.Asn700His	missense variant	-	NC_000008.11:g.60794987A>C	ESP,ExAC,TOPMed,gnomAD
rs370267935	p.Asn700Asp	missense variant	-	NC_000008.11:g.60794987A>G	ESP,ExAC,TOPMed,gnomAD
rs760357948	p.Lys702Asn	missense variant	-	NC_000008.11:g.60794995A>T	ExAC,gnomAD
rs1278614167	p.Pro703Thr	missense variant	-	NC_000008.11:g.60794996C>A	gnomAD
rs1554591598	p.Ser705Ter	stop gained	-	NC_000008.11:g.60795003C>G	-
RCV000578850	p.Ser705Ter	nonsense	-	NC_000008.11:g.60795003C>G	ClinVar
rs753687437	p.Ser708Asn	missense variant	-	NC_000008.11:g.60795012G>A	ExAC,TOPMed,gnomAD
rs1299554779	p.Leu710Trp	missense variant	-	NC_000008.11:g.60795018T>G	TOPMed,gnomAD
rs765286478	p.Lys712Gln	missense variant	-	NC_000008.11:g.60795023A>C	ExAC,gnomAD
COSM751069	p.Lys713Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60795027A>C	NCI-TCGA Cosmic
rs1464837255	p.Lys713Gln	missense variant	-	NC_000008.11:g.60795026A>C	TOPMed
rs1309474078	p.Lys713Arg	missense variant	-	NC_000008.11:g.60795027A>G	TOPMed,gnomAD
rs934674388	p.Val714Ala	missense variant	-	NC_000008.11:g.60795030T>C	TOPMed
NCI-TCGA novel	p.Val714GlyPheSerTerUnkUnk	frameshift	-	NC_000008.11:g.60795022_60795023insA	NCI-TCGA
rs1213594457	p.Asn715Lys	missense variant	-	NC_000008.11:g.60795034C>G	gnomAD
RCV000704862	p.Lys716Ile	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60795036_60795037delinsTT	ClinVar
rs777635988	p.Lys716Met	missense variant	-	NC_000008.11:g.60795036A>T	ExAC,TOPMed,gnomAD
rs777635988	p.Lys716Thr	missense variant	-	NC_000008.11:g.60795036A>C	ExAC,TOPMed,gnomAD
rs746819160	p.Lys716Asn	missense variant	-	NC_000008.11:g.60795037G>T	ExAC,TOPMed,gnomAD
rs1320629987	p.Gly717Arg	missense variant	-	NC_000008.11:g.60795038G>A	TOPMed
rs201666551	p.Thr719Ile	missense variant	-	NC_000008.11:g.60795045C>T	1000Genomes
rs200729180	p.Glu720Ter	stop gained	-	NC_000008.11:g.60795047G>T	1000Genomes
rs1434280843	p.Glu720Asp	missense variant	-	NC_000008.11:g.60795049A>C	TOPMed
rs1222692405	p.Gly721Asp	missense variant	-	NC_000008.11:g.60795051G>A	gnomAD
NCI-TCGA novel	p.Asn724Lys	missense variant	-	NC_000008.11:g.60795061T>A	NCI-TCGA
rs748119797	p.Asp726Tyr	missense variant	-	NC_000008.11:g.60795065G>T	ExAC,TOPMed,gnomAD
rs756365280	p.Asp728Asn	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60795071G>A	UniProt,dbSNP
VAR_068115	p.Asp728Asn	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60795071G>A	UniProt
rs756365280	p.Asp728Asn	missense variant	-	NC_000008.11:g.60795071G>A	ExAC,TOPMed,gnomAD
rs771267153	p.Asp728Glu	missense variant	-	NC_000008.11:g.60795073C>A	ExAC,TOPMed,gnomAD
rs756365280	p.Asp728His	missense variant	-	NC_000008.11:g.60795071G>C	ExAC,TOPMed,gnomAD
RCV000598712	p.Asp728Ter	frameshift	-	NC_000008.11:g.60795067_60795068insCTAA	ClinVar
rs749679283	p.Asp728Gly	missense variant	-	NC_000008.11:g.60795072A>G	ExAC,gnomAD
rs41272437	p.Lys729Glu	missense variant	-	NC_000008.11:g.60795074A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs552946889	p.Thr730Ile	missense variant	-	NC_000008.11:g.60795078C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000336301	p.Thr730Ile	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60795078C>T	ClinVar
RCV000388532	p.Thr730Ile	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60795078C>T	ClinVar
rs1064794416	p.Pro731Leu	missense variant	-	NC_000008.11:g.60795081C>T	-
rs1368393338	p.Pro731Thr	missense variant	-	NC_000008.11:g.60795080C>A	TOPMed,gnomAD
RCV000481972	p.Pro731Leu	missense variant	-	NC_000008.11:g.60795081C>T	ClinVar
rs200277422	p.Pro732Ala	missense variant	-	NC_000008.11:g.60795083C>G	ESP,ExAC,TOPMed,gnomAD
RCV000081824	p.Pro732Ala	missense variant	-	NC_000008.11:g.60795083C>G	ClinVar
rs943215762	p.Pro733Thr	missense variant	-	NC_000008.11:g.60795086C>A	TOPMed,gnomAD
rs943215762	p.Pro733Ala	missense variant	-	NC_000008.11:g.60795086C>G	TOPMed,gnomAD
rs760034081	p.Ser734Pro	missense variant	-	NC_000008.11:g.60795089T>C	ExAC
rs1230871319	p.Pro736Ala	missense variant	-	NC_000008.11:g.60795095C>G	gnomAD
rs899004166	p.Pro737Leu	missense variant	-	NC_000008.11:g.60795099C>T	TOPMed
rs375850262	p.Glu738Lys	missense variant	-	NC_000008.11:g.60795101G>A	ESP,ExAC,TOPMed,gnomAD
rs1297718208	p.Glu738Asp	missense variant	-	NC_000008.11:g.60795103A>C	TOPMed
rs886040981	p.Glu739Ter	stop gained	-	NC_000008.11:g.60795104G>T	-
RCV000258090	p.Glu739Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60795104G>T	ClinVar
rs776372236	p.Asp740Asn	missense variant	-	NC_000008.11:g.60795107G>A	ExAC,gnomAD
RCV000248701	p.Asp740Asn	missense variant	-	NC_000008.11:g.60795107G>A	ClinVar
rs761748737	p.Asp740Val	missense variant	-	NC_000008.11:g.60795108A>T	ExAC,gnomAD
COSM4833953	p.Glu741Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60795110G>A	NCI-TCGA Cosmic
rs750444222	p.Asp742Asn	missense variant	-	NC_000008.11:g.60795113G>A	ExAC,gnomAD
RCV000703134	p.Gly744Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60795118_60795119insCC	ClinVar
rs141947938	p.Gly744Ser	missense variant	-	NC_000008.11:g.60795119G>A	UniProt,dbSNP
VAR_068116	p.Gly744Ser	missense variant	-	NC_000008.11:g.60795119G>A	UniProt
rs141947938	p.Gly744Ser	missense variant	-	NC_000008.11:g.60795119G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000145657	p.Gly744Ser	missense variant	-	NC_000008.11:g.60795119G>A	ClinVar
rs942764555	p.Arg749Gln	missense variant	-	NC_000008.11:g.60800395G>A	TOPMed
rs1320501538	p.Arg749Trp	missense variant	-	NC_000008.11:g.60800394C>T	TOPMed,gnomAD
rs1320501538	p.Arg749Gly	missense variant	-	NC_000008.11:g.60800394C>G	TOPMed,gnomAD
rs754112540	p.Ser751Arg	missense variant	-	NC_000008.11:g.60800402C>A	ExAC,gnomAD
rs1340154642	p.Val754Leu	missense variant	-	NC_000008.11:g.60800409G>C	TOPMed,gnomAD
rs757479555	p.Arg756Gly	missense variant	-	NC_000008.11:g.60800415A>G	ExAC,gnomAD
rs1231314681	p.Lys757Arg	missense variant	-	NC_000008.11:g.60800419A>G	gnomAD
RCV000497870	p.Arg758His	missense variant	-	NC_000008.11:g.60800422G>A	ClinVar
rs202208393	p.Arg758His	missense variant	-	NC_000008.11:g.60800422G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr759Cys	missense variant	-	NC_000008.11:g.60800425A>G	NCI-TCGA
NCI-TCGA novel	p.Tyr759Phe	missense variant	-	NC_000008.11:g.60800425A>T	NCI-TCGA
rs1237122943	p.Thr760Ala	missense variant	-	NC_000008.11:g.60800427A>G	TOPMed
NCI-TCGA novel	p.Thr760Ile	missense variant	-	NC_000008.11:g.60800428C>T	NCI-TCGA
rs1208117759	p.Asp762Glu	missense variant	-	NC_000008.11:g.60800435C>G	gnomAD
rs750827803	p.Asp762His	missense variant	-	NC_000008.11:g.60800433G>C	ExAC,gnomAD
rs758639665	p.Leu763Val	missense variant	-	NC_000008.11:g.60800436C>G	ExAC,TOPMed,gnomAD
rs780658343	p.Glu764Val	missense variant	-	NC_000008.11:g.60800440A>T	ExAC,TOPMed,gnomAD
rs200006916	p.Phe765Leu	missense variant	-	NC_000008.11:g.60800444C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe765Leu	missense variant	-	NC_000008.11:g.60800442T>C	NCI-TCGA
rs1292493076	p.Lys766Asn	missense variant	-	NC_000008.11:g.60800447G>T	gnomAD
NCI-TCGA novel	p.Ile767Ser	missense variant	-	NC_000008.11:g.60800449T>G	NCI-TCGA
rs780863604	p.Asp769Gly	missense variant	-	NC_000008.11:g.60800455A>G	ExAC,gnomAD
rs1200586392	p.Glu771Asp	missense variant	-	NC_000008.11:g.60800462G>C	gnomAD
rs1377795325	p.Ala772Gly	missense variant	-	NC_000008.11:g.60800464C>G	TOPMed,gnomAD
rs1377795325	p.Ala772Val	missense variant	-	NC_000008.11:g.60800464C>T	TOPMed,gnomAD
rs1469195833	p.Ala777Val	missense variant	-	NC_000008.11:g.60800479C>T	gnomAD
COSM1100788	p.Ala777Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60800478G>A	NCI-TCGA Cosmic
rs747595218	p.Ala778Val	missense variant	-	NC_000008.11:g.60800482C>T	ExAC,gnomAD
rs747595218	p.Ala778Gly	missense variant	-	NC_000008.11:g.60800482C>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly779Val	missense variant	-	NC_000008.11:g.60800485G>T	NCI-TCGA
rs769602856	p.Arg780Gly	missense variant	-	NC_000008.11:g.60800487A>G	ExAC,gnomAD
COSM3925440	p.Ser782Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60800494C>T	NCI-TCGA Cosmic
rs373873996	p.Pro783Ser	missense variant	-	NC_000008.11:g.60800496C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs762857682	p.Pro783Arg	missense variant	-	NC_000008.11:g.60800497C>G	ExAC,gnomAD
rs762857682	p.Pro783Leu	missense variant	-	NC_000008.11:g.60800497C>T	ExAC,gnomAD
rs1385417835	p.Ser784Phe	missense variant	-	NC_000008.11:g.60800500C>T	gnomAD
rs1219165917	p.Asn785His	missense variant	-	NC_000008.11:g.60800502A>C	gnomAD
RCV000719569	p.Thr786Ile	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60800506C>T	ClinVar
rs1331824961	p.Ser787Phe	missense variant	-	NC_000008.11:g.60800509C>T	gnomAD
RCV000634425	p.Ser787Phe	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60800509C>T	ClinVar
rs1243599618	p.Ser789Leu	missense variant	-	NC_000008.11:g.60800515C>T	gnomAD
rs1191540205	p.Gln791His	missense variant	-	NC_000008.11:g.60800522G>T	TOPMed
rs1441258013	p.Gln792Arg	missense variant	-	NC_000008.11:g.60800524A>G	TOPMed
rs1180700295	p.Ser794Phe	missense variant	-	NC_000008.11:g.60801532C>T	gnomAD
RCV000623491	p.Ser794Phe	missense variant	Inborn genetic diseases	NC_000008.11:g.60801532C>T	ClinVar
RCV000482114	p.Ser794Ter	nonsense	-	NC_000008.11:g.60801534_60801535del	ClinVar
rs1256146332	p.Val795Leu	missense variant	-	NC_000008.11:g.60801534G>C	gnomAD
rs928444236	p.Glu798Asp	missense variant	-	NC_000008.11:g.60801545A>C	gnomAD
rs770814182	p.Glu798Gly	missense variant	-	NC_000008.11:g.60801544A>G	ExAC,gnomAD
rs1167408520	p.Gly799Val	missense variant	-	NC_000008.11:g.60801547G>T	TOPMed,gnomAD
rs774034274	p.Pro800Ser	missense variant	-	NC_000008.11:g.60801549C>T	ExAC,gnomAD
rs1168472463	p.Pro800Leu	missense variant	-	NC_000008.11:g.60801550C>T	TOPMed
rs759312001	p.Val802Ile	missense variant	-	NC_000008.11:g.60801555G>A	ExAC,gnomAD
rs772031683	p.Ile805Met	missense variant	-	NC_000008.11:g.60801566T>G	ExAC,gnomAD
NCI-TCGA novel	p.Ile805AsnPheSerTerUnkUnk	frameshift	-	NC_000008.11:g.60801558_60801559insA	NCI-TCGA
RCV000598762	p.Ile805Ter	frameshift	-	NC_000008.11:g.60801564dup	ClinVar
rs1376962526	p.Met806Ile	missense variant	-	NC_000008.11:g.60801569G>C	gnomAD
rs775361057	p.Met806Val	missense variant	-	NC_000008.11:g.60801567A>G	ExAC,gnomAD
rs761931418	p.Ser808Ile	missense variant	-	NC_000008.11:g.60801574G>T	ExAC
rs1313215076	p.Arg809His	missense variant	-	NC_000008.11:g.60801577G>A	gnomAD
NCI-TCGA novel	p.Arg809Cys	missense variant	-	NC_000008.11:g.60801576C>T	NCI-TCGA
rs1364233058	p.Ser810Pro	missense variant	-	NC_000008.11:g.60801579T>C	gnomAD
RCV000634446	p.Lys812Asn	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60801587A>T	ClinVar
rs61978638	p.Lys812Asn	missense variant	-	NC_000008.11:g.60801587A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000578196	p.Gln814Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60801591C>T	ClinVar
rs1554593049	p.Gln814Ter	stop gained	-	NC_000008.11:g.60801591C>T	-
rs775448936	p.Lys815Arg	missense variant	-	NC_000008.11:g.60808218A>G	ExAC,TOPMed,gnomAD
RCV000697516	p.Gly818Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60808226_60808236del	ClinVar
NCI-TCGA novel	p.Glu822Ter	stop gained	-	NC_000008.11:g.60808238G>T	NCI-TCGA
COSM1100791	p.Phe826Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60808252C>A	NCI-TCGA Cosmic
rs769974585	p.Tyr827Cys	missense variant	-	NC_000008.11:g.60808254A>G	ExAC,gnomAD
rs763047924	p.Lys831Arg	missense variant	-	NC_000008.11:g.60808266A>G	ExAC,gnomAD
rs1455553468	p.Asn832Lys	missense variant	-	NC_000008.11:g.60808270C>G	TOPMed,gnomAD
rs766532060	p.Asn832Ser	missense variant	-	NC_000008.11:g.60808269A>G	ExAC,gnomAD
rs121434344	p.Ser834Phe	missense variant	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)	NC_000008.11:g.60816389C>T	UniProt,dbSNP
VAR_054624	p.Ser834Phe	missense variant	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)	NC_000008.11:g.60816389C>T	UniProt
rs121434344	p.Ser834Phe	missense variant	-	NC_000008.11:g.60816389C>T	-
RCV000030798	p.Ser834Phe	missense variant	Hypogonadotropic hypogonadism 5 without anosmia	NC_000008.11:g.60816389C>T	ClinVar
RCV000002111	p.Ser834Phe	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60816389C>T	ClinVar
RCV000414627	p.Tyr835Ter	frameshift	-	NC_000008.11:g.60816392_60816396del	ClinVar
RCV000258116	p.Tyr835Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60816392_60816396del	ClinVar
rs776581956	p.Tyr835His	missense variant	-	NC_000008.11:g.60816391T>C	ExAC,gnomAD
NCI-TCGA novel	p.Tyr835SerPheSerTerUnkUnk	frameshift	-	NC_000008.11:g.60816388_60816392TCTTA>-	NCI-TCGA
rs771010455	p.Leu836Phe	missense variant	-	NC_000008.11:g.60816394C>T	ExAC,gnomAD
rs774777897	p.His837Arg	missense variant	-	NC_000008.11:g.60816398A>G	ExAC,gnomAD
RCV000193650	p.His837Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60816390_60816397dup	ClinVar
RCV000719611	p.Trp840CysPro	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60816408_60816409delinsTC	ClinVar
VAR_068387	p.Trp840Cys	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
rs968010685	p.Ala841Val	missense variant	-	NC_000008.11:g.60816410C>T	-
rs759815314	p.Ala841Thr	missense variant	-	NC_000008.11:g.60816409G>A	ExAC,TOPMed,gnomAD
rs1223536535	p.Ser842Pro	missense variant	-	NC_000008.11:g.60816412T>C	gnomAD
NCI-TCGA novel	p.Ser842Tyr	missense variant	-	NC_000008.11:g.60816413C>A	NCI-TCGA
rs1317586038	p.Ser842Phe	missense variant	-	NC_000008.11:g.60816413C>T	TOPMed
rs772358323	p.Ile843Val	missense variant	-	NC_000008.11:g.60816415A>G	ExAC,TOPMed,gnomAD
rs1227105110	p.Asp845Glu	missense variant	-	NC_000008.11:g.60816423T>A	TOPMed
rs775998353	p.Asp849Tyr	missense variant	-	NC_000008.11:g.60816433G>T	ExAC,gnomAD
rs775998353	p.Asp849Asn	missense variant	-	NC_000008.11:g.60816433G>A	ExAC,gnomAD
COSM1100797	p.Arg851Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60816440G>T	NCI-TCGA Cosmic
rs764535247	p.Ile856Val	missense variant	-	NC_000008.11:g.60816454A>G	ExAC,gnomAD
RCV000464453	p.Lys857Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60816456del	ClinVar
RCV000824845	p.Arg858Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60816460C>T	ClinVar
COSM1201008	p.Arg858Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60816461G>A	NCI-TCGA Cosmic
RCV000760306	p.Arg858Ter	nonsense	-	NC_000008.11:g.60816460C>T	ClinVar
NCI-TCGA novel	p.Phe859Leu	missense variant	-	NC_000008.11:g.60816463T>C	NCI-TCGA
NCI-TCGA novel	p.Ala861GlnPheSerTerUnkUnk	frameshift	-	NC_000008.11:g.60816468G>-	NCI-TCGA
NCI-TCGA novel	p.Gln863Ter	stop gained	-	NC_000008.11:g.60816475C>T	NCI-TCGA
rs754351809	p.Gly864Ser	missense variant	-	NC_000008.11:g.60816478G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly864Cys	missense variant	-	NC_000008.11:g.60816478G>T	NCI-TCGA
rs761272139	p.Gln865His	missense variant	-	NC_000008.11:g.60816483G>C	ExAC,gnomAD
rs764801121	p.Asn866Ser	missense variant	-	NC_000008.11:g.60816485A>G	ExAC,gnomAD
rs750135347	p.Lys867Arg	missense variant	-	NC_000008.11:g.60816488A>G	ExAC,gnomAD
rs1368260442	p.Leu869Pro	missense variant	-	NC_000008.11:g.60816494T>C	gnomAD
rs1328948189	p.Ser870Ter	stop gained	-	NC_000008.11:g.60816497C>A	gnomAD
rs1431113290	p.del870GluIleCysArgIleTerLeuUnk	stop gained	-	NC_000008.11:g.60816495_60816496insGAAATATGTAGAATATAATTAA	gnomAD
NCI-TCGA novel	p.Glu871Gly	missense variant	-	NC_000008.11:g.60816500A>G	NCI-TCGA
VAR_068117	p.Glu871Asp	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
rs751181139	p.Ile872Thr	missense variant	-	NC_000008.11:g.60820008T>C	ExAC,TOPMed
rs1280658399	p.Glu873Ter	stop gained	-	NC_000008.11:g.60820010G>T	gnomAD
rs1461712750	p.Glu873Val	missense variant	-	NC_000008.11:g.60820011A>T	gnomAD
rs1461712750	p.Glu873Ala	missense variant	-	NC_000008.11:g.60820011A>C	gnomAD
rs1245925250	p.Glu875Gln	missense variant	-	NC_000008.11:g.60820016G>C	gnomAD
rs368156500	p.Leu876Ile	missense variant	-	NC_000008.11:g.60820019C>A	ESP,ExAC,TOPMed,gnomAD
rs368156500	p.Leu876Phe	missense variant	-	NC_000008.11:g.60820019C>T	ESP,ExAC,TOPMed,gnomAD
rs756078419	p.Asp880Val	missense variant	-	NC_000008.11:g.60820032A>T	ExAC
rs1476757532	p.Asp880Asn	missense variant	-	NC_000008.11:g.60820031G>A	gnomAD
rs797045465	p.Tyr881Ter	stop gained	-	NC_000008.11:g.60820035dup	-
rs587783433	p.Tyr881Ter	stop gained	-	NC_000008.11:g.60820036T>G	TOPMed,gnomAD
RCV000145659	p.Tyr881Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60820036T>G	ClinVar
RCV000192729	p.Tyr881Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60820035dup	ClinVar
rs1432155111	p.Glu883Lys	missense variant	-	NC_000008.11:g.60820040G>A	gnomAD
rs186499367	p.Val884Phe	missense variant	-	NC_000008.11:g.60820043G>T	1000Genomes,ExAC,gnomAD
rs772260091	p.Arg886Trp	missense variant	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)	NC_000008.11:g.60820049C>T	UniProt,dbSNP
VAR_072957	p.Arg886Trp	missense variant	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)	NC_000008.11:g.60820049C>T	UniProt
rs772260091	p.Arg886Trp	missense variant	-	NC_000008.11:g.60820049C>T	ExAC,TOPMed,gnomAD
rs1384228127	p.Arg886Gln	missense variant	-	NC_000008.11:g.60820050G>A	TOPMed,gnomAD
COSM486561	p.Met888Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60820055A>T	NCI-TCGA Cosmic
rs372474695	p.Met888Val	missense variant	-	NC_000008.11:g.60820055A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1330677850	p.Asp889Asn	missense variant	-	NC_000008.11:g.60820058G>A	gnomAD
rs747252853	p.Phe890Tyr	missense variant	-	NC_000008.11:g.60820062T>A	ExAC,TOPMed,gnomAD
rs200188105	p.Arg892His	missense variant	-	NC_000008.11:g.60820068G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs768961973	p.Arg892Cys	missense variant	-	NC_000008.11:g.60820067C>T	ExAC,TOPMed
rs1445210885	p.Ser893Ile	missense variant	-	NC_000008.11:g.60820071G>T	TOPMed
rs916713081	p.Ser893Gly	missense variant	-	NC_000008.11:g.60820070A>G	TOPMed,gnomAD
rs377662366	p.Thr894Ala	missense variant	-	NC_000008.11:g.60820073A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs377662366	p.Thr894Pro	missense variant	-	NC_000008.11:g.60820073A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000717448	p.Thr894Ala	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60820073A>G	ClinVar
RCV000180656	p.Thr894Ala	missense variant	-	NC_000008.11:g.60820073A>G	ClinVar
rs371742009	p.Arg897Trp	missense variant	-	NC_000008.11:g.60820082C>T	ESP,ExAC,TOPMed,gnomAD
rs773685788	p.Arg897Gln	missense variant	-	NC_000008.11:g.60820083G>A	ExAC,gnomAD
rs1224277360	p.Pro900Ser	missense variant	-	NC_000008.11:g.60821790C>T	gnomAD
rs755233517	p.Pro900Arg	missense variant	-	NC_000008.11:g.60821791C>G	ExAC,TOPMed,gnomAD
rs1482444554	p.Val901Met	missense variant	-	NC_000008.11:g.60821793G>A	gnomAD
rs1179313698	p.Thr902Ile	missense variant	-	NC_000008.11:g.60821797C>T	gnomAD
rs1250318873	p.His903Asp	missense variant	-	NC_000008.11:g.60821799C>G	gnomAD
rs1421390142	p.Tyr904Cys	missense variant	-	NC_000008.11:g.60821803A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Tyr904His	missense variant	-	NC_000008.11:g.60821802T>C	NCI-TCGA
VAR_068119	p.Lys907Thr	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
rs1554597380	p.Trp908Arg	missense variant	-	NC_000008.11:g.60821814T>C	-
RCV000500185	p.Trp908Arg	missense variant	-	NC_000008.11:g.60821814T>C	ClinVar
rs886039881	p.Leu911Phe	missense variant	-	NC_000008.11:g.60821823C>T	-
RCV000256374	p.Leu911Phe	missense variant	Kallmann syndrome 5 (KAL5)	NC_000008.11:g.60821823C>T	ClinVar
rs781232623	p.Tyr913Cys	missense variant	-	NC_000008.11:g.60821830A>G	ExAC,gnomAD
rs1225464515	p.Glu914Gly	missense variant	-	NC_000008.11:g.60821833A>G	TOPMed
rs1314044137	p.Asp915Asn	missense variant	-	NC_000008.11:g.60821835G>A	TOPMed
rs376048082	p.Ser916Ile	missense variant	-	NC_000008.11:g.60821839G>T	ESP
rs1165711448	p.Thr917Met	missense variant	-	NC_000008.11:g.60821842C>T	gnomAD
rs1165711448	p.Thr917Met	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60821842C>T	UniProt,dbSNP
VAR_068120	p.Thr917Met	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60821842C>T	UniProt
rs373038882	p.Glu919Gly	missense variant	-	NC_000008.11:g.60821848A>G	ESP,ExAC,TOPMed
rs773773546	p.Arg920Trp	missense variant	-	NC_000008.11:g.60821850C>T	ExAC,TOPMed,gnomAD
rs1014640333	p.Arg920Gln	missense variant	-	NC_000008.11:g.60821851G>A	TOPMed,gnomAD
rs749781431	p.Asp925Glu	missense variant	-	NC_000008.11:g.60821867T>A	ExAC,gnomAD
rs771367272	p.Ile929Met	missense variant	-	NC_000008.11:g.60821879C>G	ExAC,TOPMed,gnomAD
rs377330239	p.Glu930Lys	missense variant	-	NC_000008.11:g.60821880G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000242433	p.Glu930Lys	missense variant	-	NC_000008.11:g.60821880G>A	ClinVar
rs767217637	p.Lys934Thr	missense variant	-	NC_000008.11:g.60821893A>C	ExAC,gnomAD
rs370304926	p.Leu935Val	missense variant	-	NC_000008.11:g.60821895C>G	ESP,ExAC,TOPMed,gnomAD
rs1341000443	p.Met936Thr	missense variant	-	NC_000008.11:g.60821899T>C	gnomAD
rs1202493308	p.Met936Ile	missense variant	-	NC_000008.11:g.60821900G>A	gnomAD
rs775000989	p.Ser937Phe	missense variant	-	NC_000008.11:g.60821902C>T	ExAC,TOPMed,gnomAD
rs1252519475	p.Ser937Pro	missense variant	-	NC_000008.11:g.60821901T>C	gnomAD
rs775000989	p.Ser937Cys	missense variant	-	NC_000008.11:g.60821902C>G	ExAC,TOPMed,gnomAD
rs763978472	p.Arg938Thr	missense variant	-	NC_000008.11:g.60821905G>C	ExAC,gnomAD
rs763978472	p.Arg938Lys	missense variant	-	NC_000008.11:g.60821905G>A	ExAC,gnomAD
RCV000145660	p.Glu939Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60821907G>T	ClinVar
rs587783434	p.Glu939Ter	stop gained	-	NC_000008.11:g.60821907G>T	-
rs753887911	p.Pro940Leu	missense variant	-	NC_000008.11:g.60821911C>T	ExAC,TOPMed,gnomAD
rs370194460	p.Thr942Ala	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60821916A>G	UniProt,dbSNP
VAR_068388	p.Thr942Ala	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60821916A>G	UniProt
rs370194460	p.Thr942Ala	missense variant	-	NC_000008.11:g.60821916A>G	ExAC,TOPMed,gnomAD
RCV000320097	p.Thr942Ala	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60821916A>G	ClinVar
RCV000356183	p.Thr942Ala	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60821916A>G	ClinVar
rs1386173343	p.Thr942Arg	missense variant	-	NC_000008.11:g.60821917C>G	gnomAD
rs751691380	p.Glu943Lys	missense variant	-	NC_000008.11:g.60821919G>A	ExAC,gnomAD
rs587783435	p.Arg944Cys	missense variant	-	NC_000008.11:g.60821922C>T	ExAC,TOPMed,gnomAD
RCV000231264	p.Arg944His	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60821923G>A	ClinVar
rs587783435	p.Arg944Ser	missense variant	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)	NC_000008.11:g.60821922C>A	UniProt,dbSNP
VAR_072958	p.Arg944Ser	missense variant	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)	NC_000008.11:g.60821922C>A	UniProt
rs587783435	p.Arg944Ser	missense variant	-	NC_000008.11:g.60821922C>A	ExAC,TOPMed,gnomAD
rs117506164	p.Arg944His	missense variant	-	NC_000008.11:g.60821923G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000278975	p.Arg944His	missense variant	-	NC_000008.11:g.60821923G>A	ClinVar
RCV000588241	p.Arg944Cys	missense variant	-	NC_000008.11:g.60821922C>T	ClinVar
RCV000145661	p.Arg944Ser	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60821922C>A	ClinVar
rs997439700	p.Val945Met	missense variant	-	NC_000008.11:g.60821925G>A	TOPMed
rs1298523170	p.Glu946Gln	missense variant	-	NC_000008.11:g.60822024G>C	gnomAD
rs768481542	p.Arg947Gln	missense variant	-	NC_000008.11:g.60822028G>A	ExAC,TOPMed,gnomAD
rs768481542	p.Arg947Gln	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60822028G>A	UniProt,dbSNP
VAR_068123	p.Arg947Gln	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60822028G>A	UniProt
RCV000766018	p.Arg947Gln	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60822028G>A	ClinVar
rs200220845	p.Arg947Ter	stop gained	-	NC_000008.11:g.60822027C>T	ExAC,TOPMed,gnomAD
RCV000385062	p.Arg947Ter	nonsense	-	NC_000008.11:g.60822027C>T	ClinVar
RCV000716250	p.Arg947Gln	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60822028G>A	ClinVar
RCV000763186	p.Arg947Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60822027C>T	ClinVar
RCV000634441	p.Arg947Gln	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60822028G>A	ClinVar
rs779447181	p.Pro949Ser	missense variant	-	NC_000008.11:g.60822033C>T	ExAC,gnomAD
rs563272521	p.Ala950Ser	missense variant	-	NC_000008.11:g.60822036G>T	1000Genomes,ExAC,gnomAD
rs563272521	p.Ala950Thr	missense variant	-	NC_000008.11:g.60822036G>A	1000Genomes,ExAC,gnomAD
RCV000328408	p.Ala950Ter	frameshift	-	NC_000008.11:g.60822036del	ClinVar
rs768456277	p.Asp951Gly	missense variant	-	NC_000008.11:g.60822040A>G	ExAC,gnomAD
COSM6181212	p.Asp952Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60822042G>A	NCI-TCGA Cosmic
RCV000578246	p.Trp953Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60822046G>A	ClinVar
rs1554597465	p.Trp953Ter	stop gained	-	NC_000008.11:g.60822046G>A	-
NCI-TCGA novel	p.Trp953Cys	missense variant	-	NC_000008.11:g.60822047G>T	NCI-TCGA
rs367557471	p.Ser956Ter	stop gained	-	NC_000008.11:g.60822055C>A	ESP,ExAC,TOPMed,gnomAD
RCV000626944	p.Ser956Ter	nonsense	Atrial septal defect (ASD)	NC_000008.11:g.60822055C>A	ClinVar
rs367557471	p.Ser956Leu	missense variant	-	NC_000008.11:g.60822055C>T	ESP,ExAC,TOPMed,gnomAD
rs773259542	p.Ser958Arg	missense variant	-	NC_000008.11:g.60822062T>A	ExAC,gnomAD
rs1266832444	p.Ser958Asn	missense variant	-	NC_000008.11:g.60822061G>A	gnomAD
rs1554597489	p.Arg960Ser	missense variant	-	NC_000008.11:g.60822068G>T	-
rs1177102112	p.Arg960Lys	missense variant	-	NC_000008.11:g.60822067G>A	gnomAD
RCV000526578	p.Arg960Ser	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60822068G>T	ClinVar
rs1411072403	p.Lys963Glu	missense variant	-	NC_000008.11:g.60822075A>G	gnomAD
NCI-TCGA novel	p.Asn964His	missense variant	-	NC_000008.11:g.60822078A>C	NCI-TCGA
rs530869262	p.Asn966Ser	missense variant	-	NC_000008.11:g.60822085A>G	1000Genomes,ExAC,gnomAD
rs1345463010	p.Lys967Ile	missense variant	-	NC_000008.11:g.60822088A>T	gnomAD
RCV000634416	p.Arg969Gly	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60822093A>G	ClinVar
rs1554597501	p.Arg969Gly	missense variant	-	NC_000008.11:g.60822093A>G	-
RCV000443611	p.Arg969Ter	frameshift	-	NC_000008.11:g.60822093_60822094del	ClinVar
RCV000145662	p.Arg969Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60822093_60822094del	ClinVar
RCV000677125	p.Glu970Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60822098_60822113del	ClinVar
RCV000578177	p.Gln972Arg	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60822103A>G	ClinVar
rs1554597512	p.Gln972Arg	missense variant	-	NC_000008.11:g.60822103A>G	-
COSM6181211	p.Glu974Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60822110G>T	NCI-TCGA Cosmic
VAR_068389	p.Gly975Arg	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
rs1225459063	p.Val976Ile	missense variant	-	NC_000008.11:g.60822114G>A	gnomAD
NCI-TCGA novel	p.Val976Ala	missense variant	-	NC_000008.11:g.60822115T>C	NCI-TCGA
rs727503863	p.Trp978Ter	stop gained	-	NC_000008.11:g.60822121G>A	-
RCV000153009	p.Trp978Ter	nonsense	-	NC_000008.11:g.60822121G>A	ClinVar
RCV000356353	p.Asn982Ser	missense variant	-	NC_000008.11:g.60822133A>G	ClinVar
rs1247457816	p.Asn982His	missense variant	-	NC_000008.11:g.60822132A>C	TOPMed
rs886044146	p.Asn982Ser	missense variant	-	NC_000008.11:g.60822133A>G	TOPMed
rs760694653	p.Tyr984Cys	missense variant	-	NC_000008.11:g.60822139A>G	ExAC,gnomAD
rs1412484224	p.Asn985Asp	missense variant	-	NC_000008.11:g.60822141A>G	TOPMed
rs764345519	p.Met986Val	missense variant	-	NC_000008.11:g.60822144A>G	ExAC,gnomAD
rs767390470	p.Arg987Gln	missense variant	-	NC_000008.11:g.60822505G>A	ExAC,TOPMed,gnomAD
RCV000413330	p.Arg987Ter	nonsense	-	NC_000008.11:g.60822504C>T	ClinVar
RCV000258148	p.Arg987Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60822504C>T	ClinVar
rs886040983	p.Arg987Ter	stop gained	-	NC_000008.11:g.60822504C>T	-
RCV000395485	p.Arg987Gln	missense variant	-	NC_000008.11:g.60822505G>A	ClinVar
NCI-TCGA novel	p.Arg987HisPheSerTerUnk	frameshift	-	NC_000008.11:g.60822503_60822510GCGAAACT>-	NCI-TCGA
rs1441839846	p.Asn988Asp	missense variant	-	NC_000008.11:g.60822507A>G	TOPMed
rs774245379	p.Ile990Val	missense variant	-	NC_000008.11:g.60822513A>G	ExAC,gnomAD
RCV000412894	p.Asp993Tyr	missense variant	-	NC_000008.11:g.60822522G>T	ClinVar
rs1057518227	p.Asp993Tyr	missense variant	-	NC_000008.11:g.60822522G>T	-
NCI-TCGA novel	p.Glu994Lys	missense variant	-	NC_000008.11:g.60822525G>A	NCI-TCGA
RCV000539027	p.Gly996Ser	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60822531G>A	ClinVar
rs1554597672	p.Gly996Ser	missense variant	-	NC_000008.11:g.60822531G>A	-
rs760780464	p.Gly996Asp	missense variant	-	NC_000008.11:g.60822532G>A	ExAC,gnomAD
RCV000626339	p.Leu997Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60822535del	ClinVar
rs1352965615	p.Thr1000Ala	missense variant	-	NC_000008.11:g.60822543A>G	TOPMed
rs375374626	p.Ile1001Val	missense variant	-	NC_000008.11:g.60822546A>G	ESP,ExAC,TOPMed,gnomAD
rs1223377243	p.Gln1002Leu	missense variant	-	NC_000008.11:g.60822550A>T	gnomAD
COSM6113622	p.Thr1005Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60822559C>G	NCI-TCGA Cosmic
rs1273985911	p.Thr1005Ala	missense variant	-	NC_000008.11:g.60822558A>G	gnomAD
COSM751067	p.Leu1007Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60822564C>T	NCI-TCGA Cosmic
rs776900495	p.Tyr1008Cys	missense variant	-	NC_000008.11:g.60822568A>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu1009Asp	missense variant	-	NC_000008.11:g.60822572G>T	NCI-TCGA
RCV000634426	p.Ile1010Met	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60822575A>G	ClinVar
rs1206578296	p.Ile1010Met	missense variant	-	NC_000008.11:g.60822575A>G	gnomAD
rs560026909	p.Tyr1011His	missense variant	-	NC_000008.11:g.60822576T>C	ExAC,gnomAD
rs765436594	p.Tyr1011Phe	missense variant	-	NC_000008.11:g.60822577A>T	ExAC,gnomAD
COSM1314136	p.Gly1014Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60822586G>A	NCI-TCGA Cosmic
rs1374888110	p.Ile1015Thr	missense variant	-	NC_000008.11:g.60822589T>C	TOPMed
rs1415116812	p.Ile1015Val	missense variant	-	NC_000008.11:g.60822588A>G	TOPMed
rs750785243	p.His1016Arg	missense variant	-	NC_000008.11:g.60822592A>G	ExAC,TOPMed,gnomAD
rs750785243	p.His1016Leu	missense variant	-	NC_000008.11:g.60822592A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1018Leu	missense variant	-	NC_000008.11:g.60822598C>T	NCI-TCGA
RCV000445135	p.Leu1020Ser	missense variant	-	NC_000008.11:g.60822604T>C	ClinVar
COSM5157710	p.Leu1020Ter	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.60822599T>-	NCI-TCGA Cosmic
rs1057521077	p.Leu1020Ser	missense variant	-	NC_000008.11:g.60822604T>C	-
NCI-TCGA novel	p.Leu1020PhePheSerTerUnkUnk	frameshift	-	NC_000008.11:g.60822598_60822599insT	NCI-TCGA
rs767043440	p.Ile1022Val	missense variant	-	NC_000008.11:g.60822609A>G	ExAC,TOPMed,gnomAD
RCV000554343	p.Ile1022Val	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60822609A>G	ClinVar
RCV000258098	p.Leu1025Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60822616dup	ClinVar
RCV000002100	p.Ile1028Val	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60822627A>G	ClinVar
RCV000763598	p.Ile1028Val	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60822627A>G	ClinVar
rs121434338	p.Ile1028Val	missense variant	-	NC_000008.11:g.60822627A>G	-
rs121434338	p.Ile1028Val	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60822627A>G	UniProt,dbSNP
VAR_021059	p.Ile1028Val	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60822627A>G	UniProt
RCV000081828	p.Ile1028Val	missense variant	-	NC_000008.11:g.60822627A>G	ClinVar
COSM6181210	p.Pro1029Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60822631C>T	NCI-TCGA Cosmic
rs886041167	p.Asn1030Thr	missense variant	-	NC_000008.11:g.60822634A>C	-
rs1331458838	p.Asn1030Lys	missense variant	-	NC_000008.11:g.60822635C>A	gnomAD
rs886041167	p.Asn1030Ser	missense variant	-	NC_000008.11:g.60822634A>G	-
RCV000659298	p.Asn1030Thr	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60822634A>C	ClinVar
RCV000390246	p.Asn1030Ser	missense variant	-	NC_000008.11:g.60822634A>G	ClinVar
rs1060503187	p.Trp1031Cys	missense variant	-	NC_000008.11:g.60822638G>C	-
RCV000464132	p.Trp1031Cys	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60822638G>C	ClinVar
VAR_033245	p.Trp1031Gly	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
VAR_068390	p.Trp1031Arg	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
rs1355615827	p.Glu1032Gln	missense variant	-	NC_000008.11:g.60822639G>C	gnomAD
RCV000578888	p.Arg1036Ter	nonsense	-	NC_000008.11:g.60822651C>T	ClinVar
rs1554597716	p.Arg1036Ter	stop gained	-	NC_000008.11:g.60822651C>T	-
RCV000578162	p.Arg1036Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60822651C>T	ClinVar
rs1210329706	p.Leu1041Val	missense variant	-	NC_000008.11:g.60822666T>G	TOPMed
rs1385327274	p.Val1043Met	missense variant	-	NC_000008.11:g.60822672G>A	gnomAD
RCV000493601	p.Val1044Ter	frameshift	-	NC_000008.11:g.60822675del	ClinVar
rs755751876	p.His1047Tyr	missense variant	-	NC_000008.11:g.60822684C>T	ExAC,gnomAD
COSM751065	p.Gly1048Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60822687G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly1048Val	missense variant	-	NC_000008.11:g.60822688G>T	NCI-TCGA
NCI-TCGA novel	p.Gln1050Glu	missense variant	-	NC_000008.11:g.60822693C>G	NCI-TCGA
rs777431660	p.Ala1051Thr	missense variant	-	NC_000008.11:g.60822696G>A	ExAC,gnomAD
rs1020281061	p.Ser1052Thr	missense variant	-	NC_000008.11:g.60822700G>C	TOPMed,gnomAD
rs1064794432	p.Arg1053Cys	missense variant	-	NC_000008.11:g.60822702C>T	-
RCV000485689	p.Arg1053Cys	missense variant	-	NC_000008.11:g.60822702C>T	ClinVar
NCI-TCGA novel	p.Arg1053His	missense variant	-	NC_000008.11:g.60822703G>A	NCI-TCGA
rs750203389	p.Arg1054Gln	missense variant	-	NC_000008.11:g.60822706G>A	gnomAD
rs749081560	p.Ile1056Leu	missense variant	-	NC_000008.11:g.60822711A>C	ExAC,gnomAD
rs535533268	p.Leu1058Phe	missense variant	-	NC_000008.11:g.60822719G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs535533268	p.Leu1058Phe	missense variant	-	NC_000008.11:g.60822719G>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM3650071	p.Glu1060Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60822723G>A	NCI-TCGA Cosmic
rs200565677	p.Lys1064Glu	missense variant	-	NC_000008.11:g.60822735A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs771941657	p.Lys1064Ile	missense variant	-	NC_000008.11:g.60822736A>T	ExAC,TOPMed,gnomAD
rs771941657	p.Lys1064Arg	missense variant	-	NC_000008.11:g.60822736A>G	ExAC,TOPMed,gnomAD
rs776699815	p.Asp1065Val	missense variant	-	NC_000008.11:g.60822739A>T	ExAC,gnomAD
COSM3650072	p.Pro1066Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60822741C>T	NCI-TCGA Cosmic
rs1346050533	p.Arg1069Gln	missense variant	-	NC_000008.11:g.60823844G>A	TOPMed,gnomAD
rs1346050533	p.Arg1069Leu	missense variant	-	NC_000008.11:g.60823844G>T	TOPMed,gnomAD
RCV000760387	p.Arg1069Ter	nonsense	-	NC_000008.11:g.60823843C>T	ClinVar
rs886040985	p.Arg1069Ter	stop gained	-	NC_000008.11:g.60823843C>T	-
RCV000258145	p.Arg1069Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60823843C>T	ClinVar
RCV000763599	p.Arg1069Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60823843C>T	ClinVar
RCV000578186	p.Val1070Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60823847del	ClinVar
rs1238116912	p.Val1070Met	missense variant	-	NC_000008.11:g.60823846G>A	gnomAD
rs1238116912	p.Val1070Leu	missense variant	-	NC_000008.11:g.60823846G>T	gnomAD
rs1352516422	p.Ile1071Met	missense variant	-	NC_000008.11:g.60823851A>G	gnomAD
rs1269074513	p.Ile1071Leu	missense variant	-	NC_000008.11:g.60823849A>T	gnomAD
NCI-TCGA novel	p.Lys1072Asn	missense variant	-	NC_000008.11:g.60823854G>T	NCI-TCGA
rs1288621938	p.Gly1073Arg	missense variant	-	NC_000008.11:g.60823855G>C	gnomAD
NCI-TCGA novel	p.Ser1074Tyr	missense variant	-	NC_000008.11:g.60823859C>A	NCI-TCGA
rs759929302	p.Tyr1075Cys	missense variant	-	NC_000008.11:g.60823862A>G	ExAC,TOPMed,gnomAD
RCV000483407	p.Lys1076Ter	frameshift	-	NC_000008.11:g.60823864_60823865del	ClinVar
RCV000480751	p.His1078Tyr	missense variant	-	NC_000008.11:g.60823870C>T	ClinVar
rs1064795519	p.His1078Tyr	missense variant	-	NC_000008.11:g.60823870C>T	-
rs1271767085	p.Ile1080Val	missense variant	-	NC_000008.11:g.60823876A>G	gnomAD
rs768184220	p.Ile1081Val	missense variant	-	NC_000008.11:g.60823879A>G	ExAC,TOPMed,gnomAD
RCV000258096	p.Ile1081Phe	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60823879A>T	ClinVar
rs768184220	p.Ile1081Phe	missense variant	-	NC_000008.11:g.60823879A>T	ExAC,TOPMed,gnomAD
RCV000624519	p.Ile1081Val	missense variant	Inborn genetic diseases	NC_000008.11:g.60823879A>G	ClinVar
RCV000300836	p.Ile1081Val	missense variant	-	NC_000008.11:g.60823879A>G	ClinVar
VAR_068391	p.Ile1081Ser	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
VAR_068392	p.Thr1082Asn	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
COSM5069258	p.Glu1085Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60823892A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu1085Gln	missense variant	-	NC_000008.11:g.60823891G>C	NCI-TCGA
rs975784203	p.Met1086Ile	missense variant	-	NC_000008.11:g.60823896G>T	TOPMed,gnomAD
rs1181600074	p.Met1086Lys	missense variant	-	NC_000008.11:g.60823895T>A	gnomAD
NCI-TCGA novel	p.Ile1087Ser	missense variant	-	NC_000008.11:g.60823898T>G	NCI-TCGA
NCI-TCGA novel	p.Leu1088Trp	missense variant	-	NC_000008.11:g.60823901T>G	NCI-TCGA
NCI-TCGA novel	p.Asp1090Asn	missense variant	-	NC_000008.11:g.60823906G>A	NCI-TCGA
rs1409115249	p.Cys1091Tyr	missense variant	-	NC_000008.11:g.60823910G>A	TOPMed
rs1159367533	p.Arg1095Trp	missense variant	-	NC_000008.11:g.60823921C>T	gnomAD
rs767259131	p.Arg1100Leu	missense variant	-	NC_000008.11:g.60823937G>T	ExAC,TOPMed,gnomAD
rs767259131	p.Arg1100His	missense variant	-	NC_000008.11:g.60823937G>A	ExAC,TOPMed,gnomAD
rs753233210	p.Arg1100Cys	missense variant	-	NC_000008.11:g.60823936C>T	ExAC,gnomAD
RCV000326831	p.Arg1100His	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60823937G>A	ClinVar
RCV000381415	p.Arg1100His	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60823937G>A	ClinVar
RCV000766019	p.Arg1100His	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60823937G>A	ClinVar
RCV000522694	p.Cys1101Tyr	missense variant	-	NC_000008.11:g.60823940G>A	ClinVar
rs1554598013	p.Cys1101Tyr	missense variant	-	NC_000008.11:g.60823940G>A	-
NCI-TCGA novel	p.Cys1101Phe	missense variant	-	NC_000008.11:g.60823940G>T	NCI-TCGA
VAR_068393	p.Cys1101Arg	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
NCI-TCGA novel	p.Glu1106Lys	missense variant	-	NC_000008.11:g.60823954G>A	NCI-TCGA
rs1064796196	p.His1108Tyr	missense variant	-	NC_000008.11:g.60823960C>T	-
RCV000485400	p.His1108Tyr	missense variant	-	NC_000008.11:g.60823960C>T	ClinVar
NCI-TCGA novel	p.Asn1112Asp	missense variant	-	NC_000008.11:g.60823972A>G	NCI-TCGA
rs746962597	p.Cys1115Gly	missense variant	-	NC_000008.11:g.60823981T>G	ExAC,gnomAD
RCV000717781	p.Cys1115Tyr	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60823982G>A	ClinVar
RCV000634438	p.Lys1116Arg	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60823985A>G	ClinVar
COSM3900862	p.Lys1116Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60823984A>G	NCI-TCGA Cosmic
rs750214154	p.Lys1116Arg	missense variant	-	NC_000008.11:g.60823985A>G	gnomAD
RCV000346766	p.Lys1122Asn	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60824004G>C	ClinVar
rs1291839866	p.Lys1122Arg	missense variant	-	NC_000008.11:g.60824003A>G	gnomAD
rs41272440	p.Lys1122Asn	missense variant	-	NC_000008.11:g.60824004G>C	ExAC,TOPMed,gnomAD
RCV000291799	p.Lys1122Asn	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60824004G>C	ClinVar
RCV000416000	p.Lys1122Asn	missense variant	-	NC_000008.11:g.60824004G>C	ClinVar
rs777911634	p.Met1123Thr	missense variant	-	NC_000008.11:g.60824006T>C	ExAC,gnomAD
rs749340474	p.Met1124Leu	missense variant	-	NC_000008.11:g.60824008A>T	ExAC,gnomAD
COSM751061	p.Glu1127Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60828663G>A	NCI-TCGA Cosmic
RCV000695614	p.Glu1127Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60828663G>T	ClinVar
rs747298346	p.His1128Tyr	missense variant	-	NC_000008.11:g.60828666C>T	ExAC,gnomAD
rs1338039240	p.Lys1129Glu	missense variant	-	NC_000008.11:g.60828669A>G	TOPMed
RCV000624092	p.Thr1133Met	missense variant	Inborn genetic diseases	NC_000008.11:g.60828682C>T	ClinVar
rs1064793083	p.Thr1133Met	missense variant	-	NC_000008.11:g.60828682C>T	gnomAD
rs1469743143	p.Pro1136Leu	missense variant	-	NC_000008.11:g.60828691C>T	TOPMed
rs1470865317	p.Pro1136Thr	missense variant	-	NC_000008.11:g.60828690C>A	gnomAD
RCV000622357	p.Gln1138Ter	frameshift	Inborn genetic diseases	NC_000008.11:g.60828698_60828714del	ClinVar
RCV000663356	p.Gln1138Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60828696C>T	ClinVar
rs1554599035	p.Gln1138Ter	stop gained	-	NC_000008.11:g.60828696C>T	-
rs1131691908	p.Phe1145Leu	missense variant	-	NC_000008.11:g.60828717T>C	-
RCV000493421	p.Phe1145Leu	missense variant	-	NC_000008.11:g.60828717T>C	ClinVar
rs961259038	p.Leu1151Met	missense variant	-	NC_000008.11:g.60828735T>A	TOPMed
COSM3650073	p.Glu1152Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60828738G>A	NCI-TCGA Cosmic
rs1344277062	p.Pro1153Ala	missense variant	-	NC_000008.11:g.60828741C>G	gnomAD
rs764723539	p.Ser1154Ile	missense variant	-	NC_000008.11:g.60828745G>T	ExAC,TOPMed,gnomAD
RCV000174785	p.Arg1155Cys	missense variant	-	NC_000008.11:g.60828747C>T	ClinVar
rs201769233	p.Arg1155Cys	missense variant	-	NC_000008.11:g.60828747C>T	ESP,ExAC,TOPMed,gnomAD
RCV000766020	p.Arg1155Cys	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60828747C>T	ClinVar
rs762669262	p.Arg1155His	missense variant	-	NC_000008.11:g.60828748G>A	ExAC,TOPMed,gnomAD
rs765906108	p.Pro1157Leu	missense variant	-	NC_000008.11:g.60828754C>T	ExAC,gnomAD
COSM1100806	p.Glu1159Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.60828759G>T	NCI-TCGA Cosmic
rs1243219561	p.Thr1160Ala	missense variant	-	NC_000008.11:g.60828762A>G	TOPMed
rs1283273131	p.Thr1161Ala	missense variant	-	NC_000008.11:g.60828765A>G	gnomAD
rs1344168572	p.Thr1161Arg	missense variant	-	NC_000008.11:g.60828766C>G	gnomAD
rs886044534	p.Met1163Val	missense variant	-	NC_000008.11:g.60828771A>G	TOPMed,gnomAD
RCV000342002	p.Met1163Val	missense variant	-	NC_000008.11:g.60828771A>G	ClinVar
RCV000530377	p.Gln1164Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60828774C>T	ClinVar
rs1554599065	p.Gln1164Ter	stop gained	-	NC_000008.11:g.60828774C>T	-
rs751392287	p.Leu1169Val	missense variant	-	NC_000008.11:g.60828789C>G	ExAC,TOPMed,gnomAD
rs886040986	p.Gln1176Ter	stop gained	-	NC_000008.11:g.60830325C>T	-
RCV000258125	p.Gln1176Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60830325C>T	ClinVar
NCI-TCGA novel	p.Gln1179Lys	missense variant	-	NC_000008.11:g.60830334C>A	NCI-TCGA
rs767403090	p.Ala1180Val	missense variant	-	NC_000008.11:g.60830338C>T	ExAC,gnomAD
rs1405371608	p.Pro1184Ser	missense variant	-	NC_000008.11:g.60830349C>T	gnomAD
rs1554599432	p.Arg1189His	missense variant	-	NC_000008.11:g.60830365G>A	-
NCI-TCGA novel	p.Arg1189Cys	missense variant	-	NC_000008.11:g.60830364C>T	NCI-TCGA
RCV000500626	p.Arg1189His	missense variant	-	NC_000008.11:g.60830365G>A	ClinVar
RCV000258078	p.Lys1191Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60830371_60830372del	ClinVar
rs760691058	p.Glu1192Asp	missense variant	-	NC_000008.11:g.60830375G>C	ExAC,gnomAD
rs1300228709	p.Val1194Ala	missense variant	-	NC_000008.11:g.60830380T>C	gnomAD
rs764084755	p.Val1194Ile	missense variant	-	NC_000008.11:g.60830379G>A	ExAC,gnomAD
COSM1100809	p.Lys1196Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60830387G>T	NCI-TCGA Cosmic
rs750556683	p.Asn1197Lys	missense variant	-	NC_000008.11:g.60830390C>G	ExAC,TOPMed,gnomAD
rs1405896321	p.Glu1202Lys	missense variant	-	NC_000008.11:g.60830403G>A	TOPMed
VAR_068125	p.Glu1203Gln	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
rs751726519	p.Ile1205Val	missense variant	-	NC_000008.11:g.60830412A>G	ExAC,TOPMed,gnomAD
RCV000171413	p.Ile1205Val	missense variant	-	NC_000008.11:g.60830412A>G	ClinVar
rs781551719	p.Ile1206Thr	missense variant	-	NC_000008.11:g.60830416T>C	ExAC,TOPMed,gnomAD
rs755429625	p.Ile1206Val	missense variant	-	NC_000008.11:g.60830415A>G	ExAC,TOPMed,gnomAD
RCV000578151	p.Ile1206Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60830405_60830415dup	ClinVar
rs886040988	p.Val1208Asp	missense variant	-	NC_000008.11:g.60830422T>A	-
RCV000623136	p.Val1208Asp	missense variant	Inborn genetic diseases	NC_000008.11:g.60830422T>A	ClinVar
COSM3900863	p.Glu1209Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60830426G>T	NCI-TCGA Cosmic
rs748470843	p.Ile1213Val	missense variant	-	NC_000008.11:g.60830436A>G	ExAC,gnomAD
COSM3925441	p.Gln1214Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.60830439C>T	NCI-TCGA Cosmic
VAR_033246	p.Gln1214Arg	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
rs990140093	p.Tyr1217His	missense variant	-	NC_000008.11:g.60830448T>C	TOPMed
RCV000509342	p.Arg1219Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60830454C>T	ClinVar
RCV000303888	p.Arg1219Ter	nonsense	-	NC_000008.11:g.60830454C>T	ClinVar
rs888026080	p.Arg1219Gln	missense variant	-	NC_000008.11:g.60830455G>A	TOPMed
rs372174845	p.Arg1219Ter	stop gained	-	NC_000008.11:g.60830454C>T	ESP,TOPMed
rs1181372363	p.Ala1220Val	missense variant	-	NC_000008.11:g.60830458C>T	gnomAD
RCV000258122	p.Asn1225Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60830473dup	ClinVar
COSM1457705	p.Asn1225Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60830473A>G	NCI-TCGA Cosmic
RCV000196644	p.Phe1226Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60830477del	ClinVar
COSM3900864	p.Thr1227Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60830478A>G	NCI-TCGA Cosmic
rs770339483	p.Gly1232Arg	missense variant	-	NC_000008.11:g.60830493G>C	ExAC,gnomAD
rs759363907	p.Gly1232Asp	missense variant	-	NC_000008.11:g.60830494G>A	TOPMed,gnomAD
rs1173391141	p.Gly1233Val	missense variant	-	NC_000008.11:g.60830497G>T	gnomAD
rs1173391141	p.Gly1233Asp	missense variant	-	NC_000008.11:g.60830497G>A	gnomAD
rs190548814	p.Gly1233Ser	missense variant	-	NC_000008.11:g.60830496G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000174934	p.Gly1233Ser	missense variant	-	NC_000008.11:g.60830496G>A	ClinVar
rs1401518138	p.Gly1234Ser	missense variant	-	NC_000008.11:g.60830499G>A	gnomAD
rs1355606296	p.Gln1235Pro	missense variant	-	NC_000008.11:g.60830503A>C	TOPMed
rs1452304330	p.Gln1235His	missense variant	-	NC_000008.11:g.60830504A>T	gnomAD
rs771781756	p.Ala1236Thr	missense variant	-	NC_000008.11:g.60830505G>A	ExAC,TOPMed,gnomAD
COSM1100812	p.Asn1237Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60830508A>G	NCI-TCGA Cosmic
rs775459114	p.Asn1237Ile	missense variant	-	NC_000008.11:g.60830509A>T	ExAC,gnomAD
NCI-TCGA novel	p.Asn1237IlePheSerTerUnkUnk	frameshift	-	NC_000008.11:g.60830507_60830538TAACGTACCTAACCTATTAAACACTATGATGG>-	NCI-TCGA
rs794727150	p.Val1238Ile	missense variant	-	NC_000008.11:g.60830511G>A	-
RCV000174935	p.Val1238Ile	missense variant	-	NC_000008.11:g.60830511G>A	ClinVar
NCI-TCGA novel	p.Asn1240Lys	missense variant	-	NC_000008.11:g.60830519C>G	NCI-TCGA
rs763159837	p.Met1245Val	missense variant	-	NC_000008.11:g.60830532A>G	ExAC,TOPMed,gnomAD
rs376803225	p.Met1246Val	missense variant	-	NC_000008.11:g.60830535A>G	ESP,ExAC,gnomAD
RCV000485822	p.Arg1249Gln	missense variant	-	NC_000008.11:g.60830545G>A	ClinVar
rs1050617514	p.Arg1249Trp	missense variant	-	NC_000008.11:g.60830544C>T	TOPMed
rs369298165	p.Arg1249Gln	missense variant	-	NC_000008.11:g.60830545G>A	ESP,ExAC,gnomAD
VAR_068394	p.Cys1251Arg	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
rs764970349	p.Pro1255Ser	missense variant	-	NC_000008.11:g.60830562C>T	-
rs888843580	p.Pro1255Leu	missense variant	-	NC_000008.11:g.60830563C>T	TOPMed,gnomAD
RCV000234220	p.Tyr1256Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60830567C>G	ClinVar
rs878855032	p.Tyr1256Ter	stop gained	-	NC_000008.11:g.60830567C>G	-
rs121434339	p.Leu1257Arg	missense variant	-	NC_000008.11:g.60830569T>G	-
rs121434339	p.Leu1257Arg	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60830569T>G	UniProt,dbSNP
VAR_021060	p.Leu1257Arg	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60830569T>G	UniProt
RCV000002101	p.Leu1257Arg	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60830569T>G	ClinVar
rs1191906296	p.Ile1258Thr	missense variant	-	NC_000008.11:g.60830572T>C	gnomAD
rs1239880284	p.Asn1259Ser	missense variant	-	NC_000008.11:g.60830575A>G	TOPMed,gnomAD
rs1421668887	p.Gly1260Asp	missense variant	-	NC_000008.11:g.60836073G>A	gnomAD
rs752911585	p.Ala1261Ser	missense variant	-	NC_000008.11:g.60836075G>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu1263Asp	missense variant	-	NC_000008.11:g.60836083G>T	NCI-TCGA
COSM299127	p.Lys1264Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60836085A>C	NCI-TCGA Cosmic
rs756523960	p.Leu1266Trp	missense variant	-	NC_000008.11:g.60836091T>G	ExAC,gnomAD
rs1173472655	p.Glu1268Asp	missense variant	-	NC_000008.11:g.60836098G>C	gnomAD
RCV000484664	p.Phe1269Ter	frameshift	-	NC_000008.11:g.60836101del	ClinVar
rs764375888	p.Phe1269Leu	missense variant	-	NC_000008.11:g.60836099T>C	ExAC,gnomAD
RCV000002106	p.Glu1271Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60836105G>T	ClinVar
RCV000258074	p.Glu1271Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60836105_60836108del	ClinVar
rs121434342	p.Glu1271Ter	stop gained	-	NC_000008.11:g.60836105G>T	-
rs1291851735	p.Thr1272Ala	missense variant	-	NC_000008.11:g.60836108A>G	TOPMed
rs1331474623	p.Asn1274Asp	missense variant	-	NC_000008.11:g.60836114A>G	TOPMed,gnomAD
rs754161857	p.Asn1274Lys	missense variant	-	NC_000008.11:g.60836116T>G	ExAC,gnomAD
rs1331474623	p.Asn1274His	missense variant	-	NC_000008.11:g.60836114A>C	TOPMed,gnomAD
rs757734110	p.Ala1275Glu	missense variant	-	NC_000008.11:g.60836118C>A	ExAC,gnomAD
rs1356784947	p.Pro1278Ala	missense variant	-	NC_000008.11:g.60836126C>G	TOPMed
rs864622150	p.Asp1279Asn	missense variant	-	NC_000008.11:g.60836129G>A	-
rs900280483	p.Asp1279Gly	missense variant	-	NC_000008.11:g.60836130A>G	TOPMed,gnomAD
RCV000206559	p.Asp1279Asn	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60836129G>A	ClinVar
rs745423641	p.Gln1281His	missense variant	-	NC_000008.11:g.60836137G>T	ExAC,gnomAD
rs779430154	p.Gln1281Pro	missense variant	-	NC_000008.11:g.60836136A>C	ExAC,gnomAD
COSM422091	p.Gln1281Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.60836135C>T	NCI-TCGA Cosmic
rs376693269	p.Leu1282Phe	missense variant	-	NC_000008.11:g.60836138C>T	ESP,ExAC,TOPMed,gnomAD
rs779923086	p.Gln1283His	missense variant	-	NC_000008.11:g.60836143G>C	ExAC,TOPMed,gnomAD
rs1374317422	p.Gln1283Arg	missense variant	-	NC_000008.11:g.60836142A>G	TOPMed,gnomAD
rs746646687	p.Ala1284Thr	missense variant	-	NC_000008.11:g.60836144G>A	ExAC,gnomAD
rs768366220	p.Met1285Val	missense variant	-	NC_000008.11:g.60836147A>G	ExAC,gnomAD
rs776296694	p.Ile1286Leu	missense variant	-	NC_000008.11:g.60836150A>C	ExAC,gnomAD
RCV000578591	p.Gln1287Ter	nonsense	-	NC_000008.11:g.60836153C>T	ClinVar
rs1554600522	p.Gln1287Ter	stop gained	-	NC_000008.11:g.60836153C>T	-
NCI-TCGA novel	p.Ala1288Phe	insertion	-	NC_000008.11:g.60836157_60836158insATT	NCI-TCGA
COSM3900868	p.Ala1289Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60836160C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala1289TrpPheSerTerUnk	frameshift	-	NC_000008.11:g.60836158_60836159insTG	NCI-TCGA
NCI-TCGA novel	p.Ala1289CysPheSerTerUnk	frameshift	-	NC_000008.11:g.60836157_60836158insA	NCI-TCGA
RCV000081833	p.Gly1290Arg	missense variant	-	NC_000008.11:g.60836162G>C	ClinVar
rs398124318	p.Gly1290Arg	missense variant	-	NC_000008.11:g.60836162G>C	-
VAR_072960	p.Lys1291Glu	Missense	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]	-	UniProt
VAR_068395	p.Leu1292Pro	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
rs864309609	p.Leu1294Pro	missense variant	-	NC_000008.11:g.60836175T>C	-
rs864309609	p.Leu1294Pro	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60836175T>C	UniProt,dbSNP
VAR_033247	p.Leu1294Pro	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60836175T>C	UniProt
RCV000203151	p.Leu1294Pro	missense variant	-	NC_000008.11:g.60836175T>C	ClinVar
COSM6181209	p.Ile1295Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60836178T>A	NCI-TCGA Cosmic
rs1326582096	p.Asp1296Asn	missense variant	-	NC_000008.11:g.60836180G>A	gnomAD
NCI-TCGA novel	p.Asp1296His	missense variant	-	NC_000008.11:g.60836180G>C	NCI-TCGA
COSM3650075	p.Pro1300Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60836192C>T	NCI-TCGA Cosmic
rs185150226	p.Pro1300Gln	missense variant	-	NC_000008.11:g.60836193C>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM6181208	p.Lys1301Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60836195A>G	NCI-TCGA Cosmic
RCV000770778	p.Leu1302Pro	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60836199T>C	ClinVar
VAR_072961	p.Leu1302Pro	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
rs1240467477	p.Lys1303Asn	missense variant	-	NC_000008.11:g.60836203G>T	gnomAD
RCV000481790	p.Lys1303Ter	nonsense	-	NC_000008.11:g.60836199_60836200dup	ClinVar
rs1313841155	p.Ala1304Thr	missense variant	-	NC_000008.11:g.60836204G>A	gnomAD
rs1246333602	p.Gly1305Ser	missense variant	-	NC_000008.11:g.60836207G>A	gnomAD
rs757404948	p.Arg1308Ser	missense variant	-	NC_000008.11:g.60836218G>C	gnomAD
rs1357628879	p.Val1309Leu	missense variant	-	NC_000008.11:g.60836219G>T	gnomAD
RCV000717551	p.Leu1310Phe	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60836222C>T	ClinVar
NCI-TCGA novel	p.Ile1311Val	missense variant	-	NC_000008.11:g.60836225A>G	NCI-TCGA
RCV000555288	p.Ser1313Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60836231del	ClinVar
rs1172820901	p.Val1316Gly	missense variant	-	NC_000008.11:g.60836241T>G	TOPMed
RCV000081834	p.Arg1317Cys	missense variant	-	NC_000008.11:g.60836243C>T	ClinVar
rs373301291	p.Arg1317Gly	missense variant	-	NC_000008.11:g.60836243C>G	ESP,ExAC,TOPMed,gnomAD
rs373301291	p.Arg1317Ser	missense variant	-	NC_000008.11:g.60836243C>A	ESP,ExAC,TOPMed,gnomAD
RCV000766021	p.Arg1317Cys	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60836243C>T	ClinVar
rs373301291	p.Arg1317Cys	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60836243C>T	UniProt,dbSNP
VAR_068396	p.Arg1317Cys	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60836243C>T	UniProt
rs373301291	p.Arg1317Cys	missense variant	-	NC_000008.11:g.60836243C>T	ESP,ExAC,TOPMed,gnomAD
RCV000791508	p.Arg1317Cys	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60836243C>T	ClinVar
rs1236755820	p.Arg1317His	missense variant	-	NC_000008.11:g.60836244G>A	gnomAD
VAR_068397	p.Cys1318Arg	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
RCV000238786	p.Leu1322Ter	frameshift	-	NC_000008.11:g.60836258del	ClinVar
RCV000258139	p.Leu1322Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60836258del	ClinVar
VAR_068127	p.Leu1322Pro	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
rs886041168	p.Glu1323Lys	missense variant	-	NC_000008.11:g.60836261G>A	-
RCV000339963	p.Glu1323Lys	missense variant	-	NC_000008.11:g.60836261G>A	ClinVar
RCV000175090	p.Tyr1325His	missense variant	-	NC_000008.11:g.60836267T>C	ClinVar
rs377535841	p.Tyr1325His	missense variant	-	NC_000008.11:g.60836267T>C	ESP,ExAC,TOPMed,gnomAD
RCV000531900	p.Tyr1325His	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60836267T>C	ClinVar
rs1242697341	p.Ile1327Val	missense variant	-	NC_000008.11:g.60836273A>G	gnomAD
rs1060503186	p.Arg1330Gln	missense variant	-	NC_000008.11:g.60836283G>A	-
RCV000634439	p.Arg1330Trp	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60836282C>T	ClinVar
RCV000468988	p.Arg1330Gln	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60836283G>A	ClinVar
RCV000719978	p.Arg1330Trp	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60836282C>T	ClinVar
rs369542138	p.Arg1330Trp	missense variant	-	NC_000008.11:g.60836282C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000723102	p.Tyr1333Cys	missense variant	-	NC_000008.11:g.60836825A>G	ClinVar
rs1283068862	p.Asp1337Asn	missense variant	-	NC_000008.11:g.60836836G>A	gnomAD
rs770876591	p.Arg1339Gln	missense variant	-	NC_000008.11:g.60836843G>A	ExAC,TOPMed,gnomAD
RCV000727588	p.Arg1339Ter	nonsense	-	NC_000008.11:g.60836842C>T	ClinVar
rs1485619015	p.Arg1341Gly	missense variant	-	NC_000008.11:g.60836848A>G	gnomAD
rs778797882	p.Asn1343Ser	missense variant	-	NC_000008.11:g.60836855A>G	ExAC,TOPMed,gnomAD
rs1478092831	p.Leu1344Phe	missense variant	-	NC_000008.11:g.60836857C>T	gnomAD
RCV000689551	p.Arg1345Cys	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60836860C>T	ClinVar
VAR_068128	p.Arg1345Cys	Missense	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]	-	UniProt
VAR_068398	p.Arg1345His	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
VAR_068128	p.Arg1345Cys	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
rs1434621688	p.Ala1347Val	missense variant	-	NC_000008.11:g.60836867C>T	gnomAD
NCI-TCGA novel	p.Ile1349Val	missense variant	-	NC_000008.11:g.60836872A>G	NCI-TCGA
rs1224748534	p.Asp1350Ala	missense variant	-	NC_000008.11:g.60836876A>C	TOPMed
COSM4940895	p.Arg1351Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60836879G>A	NCI-TCGA Cosmic
COSM3650077	p.Ser1357Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60836897C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser1357Cys	missense variant	-	NC_000008.11:g.60836897C>G	NCI-TCGA
COSM1314138	p.Asp1358Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60836899G>A	NCI-TCGA Cosmic
rs1053656903	p.Arg1359Lys	missense variant	-	NC_000008.11:g.60836903G>A	gnomAD
COSM1457715	p.Phe1360Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60836906T>G	NCI-TCGA Cosmic
rs1064796242	p.Leu1363His	missense variant	-	NC_000008.11:g.60836915T>A	-
RCV000485513	p.Leu1363His	missense variant	-	NC_000008.11:g.60836915T>A	ClinVar
NCI-TCGA novel	p.Leu1364Pro	missense variant	-	NC_000008.11:g.60836918T>C	NCI-TCGA
NCI-TCGA novel	p.Arg1367Met	missense variant	-	NC_000008.11:g.60836927G>T	NCI-TCGA
NCI-TCGA novel	p.Gly1369Ter	stop gained	-	NC_000008.11:g.60836932G>T	NCI-TCGA
NCI-TCGA novel	p.Gly1370Arg	missense variant	-	NC_000008.11:g.60836935G>C	NCI-TCGA
rs1554600633	p.Leu1371Ter	stop gained	-	NC_000008.11:g.60836939T>G	-
COSM1457717	p.Leu1371Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60836938T>G	NCI-TCGA Cosmic
RCV000498174	p.Leu1371Ter	nonsense	-	NC_000008.11:g.60836939T>G	ClinVar
VAR_072962	p.Leu1375Phe	Missense	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]	-	UniProt
COSM3900869	p.Ala1377Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60836957C>T	NCI-TCGA Cosmic
rs1085307453	p.Asp1379Ala	missense variant	-	NC_000008.11:g.60836963A>C	-
RCV000489569	p.Asp1379Ala	missense variant	-	NC_000008.11:g.60836963A>C	ClinVar
rs763364392	p.Thr1380Ile	missense variant	-	NC_000008.11:g.60836966C>T	ExAC,gnomAD
COSM1330937	p.Cys1381Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60836969G>T	NCI-TCGA Cosmic
rs1338287653	p.Asp1393Val	missense variant	-	NC_000008.11:g.60837005A>T	TOPMed
VAR_068129	p.Gln1395His	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
RCV000401389	p.Gln1397Ter	nonsense	-	NC_000008.11:g.60837671C>T	ClinVar
rs886041169	p.Gln1397Ter	stop gained	-	NC_000008.11:g.60837671C>T	-
NCI-TCGA novel	p.Ala1398Val	missense variant	-	NC_000008.11:g.60837675C>T	NCI-TCGA
NCI-TCGA novel	p.Cys1400Tyr	missense variant	-	NC_000008.11:g.60837681G>A	NCI-TCGA
COSM4833836	p.Arg1402Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60837687G>C	NCI-TCGA Cosmic
rs1222155579	p.Ser1406Asn	missense variant	-	NC_000008.11:g.60837699G>A	gnomAD
rs879034549	p.Tyr1412Cys	missense variant	-	NC_000008.11:g.60837717A>G	TOPMed,gnomAD
rs770166812	p.Thr1416Ile	missense variant	-	NC_000008.11:g.60837729C>T	ExAC,gnomAD
rs770166812	p.Thr1416Arg	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60837729C>G	UniProt,dbSNP
VAR_068130	p.Thr1416Arg	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60837729C>G	UniProt
rs770166812	p.Thr1416Arg	missense variant	-	NC_000008.11:g.60837729C>G	ExAC,gnomAD
RCV000434719	p.Thr1416Arg	missense variant	-	NC_000008.11:g.60837729C>G	ClinVar
COSM1100818	p.Glu1423Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60837750A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Met1424Ile	missense variant	-	NC_000008.11:g.60837754G>A	NCI-TCGA
rs749735125	p.Phe1425Leu	missense variant	-	NC_000008.11:g.60837755T>C	ExAC,gnomAD
rs1363072530	p.Asp1426Asn	missense variant	-	NC_000008.11:g.60837758G>A	gnomAD
rs774794325	p.Ala1428Ser	missense variant	-	NC_000008.11:g.60837764G>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala1428Asp	missense variant	-	NC_000008.11:g.60837765C>A	NCI-TCGA
rs1554600817	p.Lys1431Glu	missense variant	-	NC_000008.11:g.60837773A>G	-
RCV000523301	p.Lys1431Glu	missense variant	-	NC_000008.11:g.60837773A>G	ClinVar
rs1200383955	p.Ala1437Thr	missense variant	-	NC_000008.11:g.60837791G>A	TOPMed
rs587783440	p.Gln1440Ter	stop gained	-	NC_000008.11:g.60837800C>T	-
RCV000145669	p.Gln1440Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60837800C>T	ClinVar
rs561821477	p.Met1442Val	missense variant	-	NC_000008.11:g.60837806A>G	1000Genomes,ExAC,gnomAD
rs1333684435	p.Ser1443Asn	missense variant	-	NC_000008.11:g.60837810G>A	TOPMed,gnomAD
COSM3650078	p.Arg1445Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60837816G>C	NCI-TCGA Cosmic
rs763774718	p.Thr1449Ala	missense variant	-	NC_000008.11:g.60837827A>G	ExAC,TOPMed,gnomAD
rs371850160	p.Asn1450Ser	missense variant	-	NC_000008.11:g.60837831A>G	ESP,ExAC,TOPMed,gnomAD
rs932165314	p.Val1452Ile	missense variant	-	NC_000008.11:g.60838076G>A	TOPMed,gnomAD
rs771207233	p.Gln1454His	missense variant	-	NC_000008.11:g.60838084G>T	ExAC,gnomAD
VAR_068131	p.Lys1457Gln	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
rs1220292735	p.Glu1459Gln	missense variant	-	NC_000008.11:g.60838097G>C	gnomAD
RCV000365843	p.Ile1460Ter	frameshift	-	NC_000008.11:g.60838101_60838102del	ClinVar
rs1322512274	p.Glu1461Ter	stop gained	-	NC_000008.11:g.60838103G>T	gnomAD
rs774809528	p.Asp1462Val	missense variant	-	NC_000008.11:g.60838107A>T	ExAC,gnomAD
rs774809528	p.Asp1462Gly	missense variant	-	NC_000008.11:g.60838107A>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu1464Val	missense variant	-	NC_000008.11:g.60838112C>G	NCI-TCGA
rs886040991	p.Arg1465Ter	stop gained	-	NC_000008.11:g.60838115C>T	-
rs373095697	p.Arg1465Gln	missense variant	-	NC_000008.11:g.60838116G>A	ESP,TOPMed,gnomAD
RCV000258081	p.Arg1465Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60838115C>T	ClinVar
RCV000303960	p.Arg1465Ter	nonsense	-	NC_000008.11:g.60838115C>T	ClinVar
RCV000480102	p.Tyr1469Ter	nonsense	-	NC_000008.11:g.60838129T>G	ClinVar
rs1064793962	p.Tyr1469Ter	stop gained	-	NC_000008.11:g.60838129T>G	-
COSM4833919	p.Glu1478Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60838154G>A	NCI-TCGA Cosmic
rs1171098857	p.Glu1484Lys	missense variant	-	NC_000008.11:g.60838172G>A	gnomAD
rs1427525760	p.Asp1486Asn	missense variant	-	NC_000008.11:g.60838178G>A	gnomAD
rs1284610913	p.Gln1489His	missense variant	-	NC_000008.11:g.60838189G>T	TOPMed
COSM273707	p.Arg1493His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60838200G>A	NCI-TCGA Cosmic
rs1009126876	p.Arg1493Cys	missense variant	-	NC_000008.11:g.60838199C>T	TOPMed,gnomAD
rs587783442	p.Arg1494Ter	stop gained	-	NC_000008.11:g.60838202C>T	-
RCV000145671	p.Arg1494Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60838202C>T	ClinVar
RCV000627201	p.Arg1494Ter	nonsense	-	NC_000008.11:g.60838202C>T	ClinVar
rs1392837517	p.Thr1495Ala	missense variant	-	NC_000008.11:g.60838205A>G	TOPMed
rs776062465	p.Ile1498Leu	missense variant	-	NC_000008.11:g.60838214A>C	ExAC,gnomAD
rs776062465	p.Ile1498Val	missense variant	-	NC_000008.11:g.60838214A>G	ExAC,gnomAD
RCV000693970	p.Thr1499Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60838216dup	ClinVar
rs1298659860	p.Thr1499Ile	missense variant	-	NC_000008.11:g.60838218C>T	gnomAD
NCI-TCGA novel	p.Ile1500Val	missense variant	-	NC_000008.11:g.60838220A>G	NCI-TCGA
rs1402893182	p.Glu1501Asp	missense variant	-	NC_000008.11:g.60838225G>T	TOPMed
rs1330309910	p.Ser1502Leu	missense variant	-	NC_000008.11:g.60838227C>T	gnomAD
rs1064794248	p.Glu1503Ter	stop gained	-	NC_000008.11:g.60838229G>T	-
RCV000485855	p.Glu1503Ter	nonsense	-	NC_000008.11:g.60838229G>T	ClinVar
rs1345245155	p.Gly1504Glu	missense variant	-	NC_000008.11:g.60838233G>A	gnomAD
rs764834051	p.Lys1505Asn	missense variant	-	NC_000008.11:g.60838237A>C	ExAC,TOPMed,gnomAD
rs1465532061	p.Lys1505Glu	missense variant	-	NC_000008.11:g.60838235A>G	TOPMed
rs750258756	p.Gly1506Ser	missense variant	-	NC_000008.11:g.60838238G>A	ExAC,TOPMed,gnomAD
rs758108571	p.Gly1506Asp	missense variant	-	NC_000008.11:g.60838239G>A	ExAC,gnomAD
rs1184118359	p.Thr1508Ile	missense variant	-	NC_000008.11:g.60838245C>T	TOPMed,gnomAD
rs1554601592	p.Phe1514Cys	missense variant	-	NC_000008.11:g.60841651T>G	-
COSM1457722	p.Phe1514Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60841650T>G	NCI-TCGA Cosmic
RCV000556756	p.Phe1514Cys	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60841651T>G	ClinVar
rs1435091278	p.Arg1520Ser	missense variant	-	NC_000008.11:g.60841670G>T	TOPMed
rs1328955904	p.Arg1520Gly	missense variant	-	NC_000008.11:g.60841668A>G	gnomAD
rs766098474	p.Asp1522His	missense variant	-	NC_000008.11:g.60841674G>C	ExAC,gnomAD
rs751330029	p.Pro1528Gln	missense variant	-	NC_000008.11:g.60841693C>A	ExAC,gnomAD
COSM1100824	p.Ala1535Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60841713G>A	NCI-TCGA Cosmic
rs759574788	p.Lys1536Glu	missense variant	-	NC_000008.11:g.60841716A>G	ExAC,gnomAD
COSM1457724	p.Lys1536Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60841717A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys1536Gln	missense variant	-	NC_000008.11:g.60841716A>C	NCI-TCGA
rs1057524501	p.Lys1537Ter	stop gained	-	NC_000008.11:g.60841719A>T	gnomAD
RCV000423451	p.Lys1537Ter	nonsense	-	NC_000008.11:g.60841719A>T	ClinVar
rs1057524501	p.Lys1537Gln	missense variant	-	NC_000008.11:g.60841719A>C	gnomAD
NCI-TCGA novel	p.Lys1537Asn	missense variant	-	NC_000008.11:g.60841721G>C	NCI-TCGA
rs1378329072	p.Ala1538Ser	missense variant	-	NC_000008.11:g.60841722G>T	gnomAD
rs1267689872	p.Glu1539Gln	missense variant	-	NC_000008.11:g.60841725G>C	gnomAD
rs767513261	p.Asp1541Asn	missense variant	-	NC_000008.11:g.60841731G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp1541Tyr	missense variant	-	NC_000008.11:g.60841731G>T	NCI-TCGA
rs779259762	p.Ala1544Asp	missense variant	-	NC_000008.11:g.60841741C>A	ExAC,gnomAD
RCV000145673	p.Ala1544Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60841744del	ClinVar
rs779259762	p.Ala1544Val	missense variant	-	NC_000008.11:g.60841741C>T	ExAC,gnomAD
RCV000705262	p.Gly1547Arg	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60841749G>C	ClinVar
NCI-TCGA novel	p.Arg1548GlyPheSerTerUnkUnk	frameshift	-	NC_000008.11:g.60841749G>-	NCI-TCGA
RCV000705304	p.Asp1554Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60841864del	ClinVar
rs1359293887	p.Asp1554Asn	missense variant	-	NC_000008.11:g.60841862G>A	gnomAD
NCI-TCGA novel	p.Asp1554Tyr	missense variant	-	NC_000008.11:g.60841862G>T	NCI-TCGA
rs1296815856	p.Thr1555Asn	missense variant	-	NC_000008.11:g.60841866C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Pro1556Ser	missense variant	-	NC_000008.11:g.60841868C>T	NCI-TCGA
NCI-TCGA novel	p.Arg1557Lys	missense variant	-	NC_000008.11:g.60841872G>A	NCI-TCGA
NCI-TCGA novel	p.Arg1557Ile	missense variant	-	NC_000008.11:g.60841872G>T	NCI-TCGA
NCI-TCGA novel	p.Lys1560Gln	missense variant	-	NC_000008.11:g.60841880A>C	NCI-TCGA
rs1215517669	p.Arg1563Lys	missense variant	-	NC_000008.11:g.60841890G>A	gnomAD
rs1300898513	p.Leu1564Phe	missense variant	-	NC_000008.11:g.60841892C>T	gnomAD
rs748779011	p.Ser1566Arg	missense variant	-	NC_000008.11:g.60841900T>G	ExAC,TOPMed,gnomAD
rs1235633257	p.Ser1566Asn	missense variant	-	NC_000008.11:g.60841899G>A	gnomAD
rs1353000767	p.Ala1567Glu	missense variant	-	NC_000008.11:g.60841902C>A	gnomAD
rs1214381598	p.Lys1569Glu	missense variant	-	NC_000008.11:g.60841907A>G	gnomAD
rs770535723	p.Glu1570Lys	missense variant	-	NC_000008.11:g.60841910G>A	ExAC,gnomAD
rs1486108104	p.Glu1572Lys	missense variant	-	NC_000008.11:g.60841916G>A	gnomAD
rs774115172	p.Leu1573Val	missense variant	-	NC_000008.11:g.60841919C>G	ExAC,TOPMed,gnomAD
rs1227553495	p.Met1574Thr	missense variant	-	NC_000008.11:g.60841923T>C	TOPMed,gnomAD
rs371385411	p.Met1574Leu	missense variant	-	NC_000008.11:g.60841922A>T	ESP,TOPMed,gnomAD
VAR_068132	p.Phe1576Cys	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
COSM6113621	p.Asp1578Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60841934G>A	NCI-TCGA Cosmic
rs1434566381	p.Asp1578Glu	missense variant	-	NC_000008.11:g.60841936C>G	gnomAD
rs560808712	p.Leu1579Phe	missense variant	-	NC_000008.11:g.60841939G>C	gnomAD
rs893977114	p.Leu1579Ser	missense variant	-	NC_000008.11:g.60841938T>C	TOPMed
NCI-TCGA novel	p.Glu1580Lys	missense variant	-	NC_000008.11:g.60841940G>A	NCI-TCGA
rs745721998	p.Ser1581Gly	missense variant	-	NC_000008.11:g.60841943A>G	ExAC,gnomAD
rs1229055939	p.Asp1582Gly	missense variant	-	NC_000008.11:g.60841947A>G	TOPMed
rs984176767	p.Pro1587Ser	missense variant	-	NC_000008.11:g.60841961C>T	gnomAD
rs587783444	p.Pro1587Leu	missense variant	-	NC_000008.11:g.60841962C>T	TOPMed
RCV000145674	p.Pro1587Leu	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60841962C>T	ClinVar
rs764053364	p.Cys1588Trp	missense variant	-	NC_000008.11:g.60841966T>G	ExAC,gnomAD
rs1011458802	p.Cys1588Phe	missense variant	-	NC_000008.11:g.60841965G>T	TOPMed
rs760536535	p.Cys1588Ser	missense variant	-	NC_000008.11:g.60841964T>A	ExAC,gnomAD
rs1432652391	p.Ala1589Thr	missense variant	-	NC_000008.11:g.60841967G>A	TOPMed
rs1388750390	p.Arg1592Gln	missense variant	-	NC_000008.11:g.60841977G>A	gnomAD
NCI-TCGA novel	p.Arg1592Leu	missense variant	-	NC_000008.11:g.60841977G>T	NCI-TCGA
rs773187713	p.Arg1592Trp	missense variant	-	NC_000008.11:g.60841976C>T	ExAC,gnomAD
rs773187713	p.Arg1592Trp	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60841976C>T	UniProt,dbSNP
VAR_072963	p.Arg1592Trp	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60841976C>T	UniProt
rs766632082	p.Arg1593His	missense variant	-	NC_000008.11:g.60841980G>A	ExAC,TOPMed,gnomAD
COSM751053	p.Arg1593Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60841980G>T	NCI-TCGA Cosmic
rs763070165	p.Arg1593Cys	missense variant	-	NC_000008.11:g.60841979C>T	ExAC,TOPMed,gnomAD
RCV000762515	p.Arg1593His	missense variant	-	NC_000008.11:g.60841980G>A	ClinVar
RCV000816997	p.Arg1593His	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60841980G>A	ClinVar
VAR_068399	p.Pro1594Ser	Missense	-	-	UniProt
rs1288121136	p.Gln1595Arg	missense variant	-	NC_000008.11:g.60841986A>G	gnomAD
rs1165056483	p.Asp1596Tyr	missense variant	-	NC_000008.11:g.60841988G>T	TOPMed
RCV000426210	p.Asp1596Gly	missense variant	-	NC_000008.11:g.60841989A>G	ClinVar
rs1057521078	p.Asp1596Gly	missense variant	-	NC_000008.11:g.60841989A>G	-
rs1317419491	p.Lys1597Arg	missense variant	-	NC_000008.11:g.60841992A>G	gnomAD
RCV000728187	p.Ser1598Ter	nonsense	-	NC_000008.11:g.60841995C>G	ClinVar
RCV000002118	p.Gln1599Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60841997C>T	ClinVar
rs267606724	p.Gln1599Ter	stop gained	-	NC_000008.11:g.60841997C>T	ExAC,TOPMed,gnomAD
rs267606724	p.Gln1599Glu	missense variant	-	NC_000008.11:g.60841997C>G	ExAC,TOPMed,gnomAD
RCV000122607	p.Gln1599Ter	nonsense	-	NC_000008.11:g.60841997C>T	ClinVar
rs767869231	p.Gly1600Val	missense variant	-	NC_000008.11:g.60842001G>T	ExAC,TOPMed,gnomAD
rs375951527	p.Ala1602Thr	missense variant	-	NC_000008.11:g.60842006G>A	ESP,ExAC,gnomAD
RCV000368388	p.Ser1604Thr	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60842013G>C	ClinVar
COSM6181206	p.Ser1604Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60842012A>T	NCI-TCGA Cosmic
rs367722051	p.Ser1604Thr	missense variant	-	NC_000008.11:g.60842013G>C	ESP,ExAC,gnomAD
RCV000273816	p.Ser1604Thr	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60842013G>C	ClinVar
NCI-TCGA novel	p.Ser1604Asn	missense variant	-	NC_000008.11:g.60842013G>A	NCI-TCGA
rs756787300	p.Arg1608Ser	missense variant	-	NC_000008.11:g.60842026G>T	ExAC,gnomAD
COSM486563	p.Arg1608Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60842025G>A	NCI-TCGA Cosmic
rs1401829997	p.Lys1611Asn	missense variant	-	NC_000008.11:g.60842035G>T	gnomAD
RCV000578158	p.Asn1612Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60842037del	ClinVar
RCV000258110	p.Leu1613Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60842039_60842040del	ClinVar
NCI-TCGA novel	p.Leu1613Met	missense variant	-	NC_000008.11:g.60842039C>A	NCI-TCGA
rs1249078741	p.Tyr1616His	missense variant	-	NC_000008.11:g.60842048T>C	TOPMed
rs200964201	p.Tyr1616Cys	missense variant	-	NC_000008.11:g.60842049A>G	TOPMed
rs886040993	p.Gly1617Ser	missense variant	-	NC_000008.11:g.60842051G>A	-
RCV000258142	p.Gly1617Ser	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60842051G>A	ClinVar
VAR_068400	p.Gly1617Asp	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
rs746823883	p.Gly1619Arg	missense variant	-	NC_000008.11:g.60844868G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly1619Glu	missense variant	-	NC_000008.11:g.60844869G>A	NCI-TCGA
VAR_068401	p.Gly1619Val	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
rs986373484	p.Arg1620Trp	missense variant	-	NC_000008.11:g.60844871C>T	-
rs768497646	p.Arg1620Gln	missense variant	-	NC_000008.11:g.60844872G>A	ExAC,TOPMed,gnomAD
RCV000484084	p.Arg1620Trp	missense variant	-	NC_000008.11:g.60844871C>T	ClinVar
rs781052111	p.Asp1623Val	missense variant	-	NC_000008.11:g.60844881A>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp1623His	missense variant	-	NC_000008.11:g.60844880G>C	NCI-TCGA
rs1236280251	p.Ser1626Ala	missense variant	-	NC_000008.11:g.60844889T>G	gnomAD
RCV000273564	p.Ser1626Phe	missense variant	-	NC_000008.11:g.60844890C>T	ClinVar
rs369608927	p.Ser1626Phe	missense variant	-	NC_000008.11:g.60844890C>T	ESP,ExAC,TOPMed,gnomAD
RCV000718711	p.Ser1626Phe	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60844890C>T	ClinVar
rs769675553	p.His1627Tyr	missense variant	-	NC_000008.11:g.60844892C>T	ExAC,gnomAD
rs745837768	p.Arg1629Cys	missense variant	-	NC_000008.11:g.60844898C>T	ExAC,TOPMed,gnomAD
rs920422227	p.Arg1629His	missense variant	-	NC_000008.11:g.60844899G>A	TOPMed,gnomAD
rs1169925155	p.Tyr1630Cys	missense variant	-	NC_000008.11:g.60844902A>G	gnomAD
rs545545721	p.Arg1632Cys	missense variant	-	NC_000008.11:g.60844907C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs775776506	p.Arg1632His	missense variant	-	NC_000008.11:g.60844908G>A	ExAC,gnomAD
rs1332300386	p.Gln1633Glu	missense variant	-	NC_000008.11:g.60844910C>G	gnomAD
RCV000634432	p.Thr1635Ala	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60844916A>G	ClinVar
rs372587744	p.Thr1635Ala	missense variant	-	NC_000008.11:g.60844916A>G	ESP,ExAC,TOPMed,gnomAD
rs372587744	p.Thr1635Ser	missense variant	-	NC_000008.11:g.60844916A>T	ESP,ExAC,TOPMed,gnomAD
rs754082843	p.Glu1636Asp	missense variant	-	NC_000008.11:g.60844921G>C	ExAC,TOPMed,gnomAD
rs750002915	p.Asp1638Glu	missense variant	-	NC_000008.11:g.60844927T>G	ExAC,gnomAD
rs765792756	p.Asp1638Gly	missense variant	-	NC_000008.11:g.60844926A>G	ExAC,gnomAD
rs762441929	p.Asp1638His	missense variant	-	NC_000008.11:g.60844925G>C	ExAC,gnomAD
RCV000206229	p.Asp1638Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60844928del	ClinVar
rs1159520181	p.Val1639Ile	missense variant	-	NC_000008.11:g.60844928G>A	TOPMed
rs1347885772	p.Thr1641Ile	missense variant	-	NC_000008.11:g.60844935C>T	gnomAD
NCI-TCGA novel	p.Ile1646Phe	missense variant	-	NC_000008.11:g.60844949A>T	NCI-TCGA
rs1342270477	p.Tyr1649His	missense variant	-	NC_000008.11:g.60844958T>C	gnomAD
rs1263084217	p.His1653Arg	missense variant	-	NC_000008.11:g.60844971A>G	gnomAD
RCV000339416	p.Tyr1654Ter	frameshift	-	NC_000008.11:g.60844974del	ClinVar
RCV000456117	p.Ser1662Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60844998del	ClinVar
rs1448971315	p.Ile1664Val	missense variant	-	NC_000008.11:g.60845003A>G	TOPMed
rs1487550618	p.Trp1665Cys	missense variant	-	NC_000008.11:g.60845008G>C	gnomAD
rs1243009172	p.Thr1669Ile	missense variant	-	NC_000008.11:g.60845019C>T	gnomAD
rs1477841225	p.Thr1671Ile	missense variant	-	NC_000008.11:g.60845025C>T	gnomAD
rs61737194	p.Ala1672Val	missense variant	-	NC_000008.11:g.60845028C>T	ESP,ExAC,TOPMed,gnomAD
rs61737194	p.Ala1672Val	missense variant	-	NC_000008.11:g.60845028C>T	UniProt,dbSNP
VAR_068402	p.Ala1672Val	missense variant	-	NC_000008.11:g.60845028C>T	UniProt
rs61737194	p.Ala1672Glu	missense variant	-	NC_000008.11:g.60845028C>A	ESP,ExAC,TOPMed,gnomAD
rs769563309	p.Asp1673Asn	missense variant	-	NC_000008.11:g.60845030G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp1673LeuPhe	insertion	-	NC_000008.11:g.60845031_60845032insCCTATT	NCI-TCGA
RCV000192854	p.Gln1675Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60845036C>T	ClinVar
rs769769149	p.Gln1675His	missense variant	-	NC_000008.11:g.60845038G>C	ExAC,TOPMed,gnomAD
rs797045467	p.Gln1675Ter	stop gained	-	NC_000008.11:g.60845036C>T	-
rs1402277138	p.Arg1677Gln	missense variant	-	NC_000008.11:g.60845043G>A	gnomAD
rs777652245	p.Arg1677Ter	stop gained	-	NC_000008.11:g.60845042C>T	ExAC,gnomAD
RCV000268757	p.Arg1677Ter	nonsense	-	NC_000008.11:g.60845042C>T	ClinVar
rs1246655724	p.Ala1678Asp	missense variant	-	NC_000008.11:g.60845046C>A	TOPMed
rs746011394	p.Val1680Ala	missense variant	-	NC_000008.11:g.60845052T>C	ExAC,gnomAD
RCV000599397	p.His1682Ter	frameshift	-	NC_000008.11:g.60845057del	ClinVar
rs1554602465	p.Gly1684Ser	missense variant	-	NC_000008.11:g.60845063G>A	-
rs1554602465	p.Gly1684Ser	missense variant	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)	NC_000008.11:g.60845063G>A	UniProt,dbSNP
VAR_068134	p.Gly1684Ser	missense variant	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)	NC_000008.11:g.60845063G>A	UniProt
RCV000623724	p.Gly1684Ser	missense variant	Inborn genetic diseases	NC_000008.11:g.60845063G>A	ClinVar
rs755896254	p.Lys1696Arg	missense variant	-	NC_000008.11:g.60845286A>G	ExAC,gnomAD
rs777744183	p.Val1698Leu	missense variant	-	NC_000008.11:g.60845291G>T	ExAC,gnomAD
RCV000532812	p.Gln1701Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60845300del	ClinVar
RCV000717780	p.Ser1702Asn	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60845304G>A	ClinVar
RCV000270088	p.Ser1702Asn	missense variant	-	NC_000008.11:g.60845304G>A	ClinVar
rs370599133	p.Ser1702Asn	missense variant	-	NC_000008.11:g.60845304G>A	ESP,ExAC,TOPMed,gnomAD
rs1236442873	p.Thr1703Arg	missense variant	-	NC_000008.11:g.60845307C>G	gnomAD
rs1236442873	p.Thr1703Ile	missense variant	-	NC_000008.11:g.60845307C>T	gnomAD
rs373986410	p.Pro1705Leu	missense variant	-	NC_000008.11:g.60845313C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1705Ser	missense variant	-	NC_000008.11:g.60845312C>T	NCI-TCGA
rs747012110	p.Val1706Ala	missense variant	-	NC_000008.11:g.60845316T>C	ExAC,gnomAD
RCV000623919	p.Val1706Ter	frameshift	Inborn genetic diseases	NC_000008.11:g.60845313dup	ClinVar
rs1471711529	p.Gln1708Arg	missense variant	-	NC_000008.11:g.60845322A>G	gnomAD
rs768971850	p.Asp1709Val	missense variant	-	NC_000008.11:g.60845325A>T	ExAC,gnomAD
rs776964640	p.Ala1710Val	missense variant	-	NC_000008.11:g.60845328C>T	ExAC,gnomAD
rs773655768	p.Asp1711Glu	missense variant	-	NC_000008.11:g.60845332C>G	ExAC,gnomAD
rs748590759	p.Asp1711Asn	missense variant	-	NC_000008.11:g.60845330G>A	ExAC,TOPMed,gnomAD
rs773655768	p.Asp1711Glu	missense variant	-	NC_000008.11:g.60845332C>A	ExAC,gnomAD
rs748590759	p.Asp1711His	missense variant	-	NC_000008.11:g.60845330G>C	ExAC,TOPMed,gnomAD
rs763563180	p.Ala1714Thr	missense variant	-	NC_000008.11:g.60845339G>A	ExAC,gnomAD
rs1231940183	p.Ala1720Gly	missense variant	-	NC_000008.11:g.60845358C>G	gnomAD
RCV000190754	p.Gln1723Ter	frameshift	Inborn genetic diseases	NC_000008.11:g.60845366dup	ClinVar
rs773957123	p.Glu1724Gln	missense variant	-	NC_000008.11:g.60845369G>C	ExAC,gnomAD
rs367616892	p.Asp1725Tyr	missense variant	-	NC_000008.11:g.60845372G>T	ESP
RCV000413631	p.Ser1726Ter	frameshift	-	NC_000008.11:g.60845376_60845389delinsT	ClinVar
RCV000352992	p.Tyr1727Ter	nonsense	-	NC_000008.11:g.60845380C>G	ClinVar
NCI-TCGA novel	p.Tyr1727Cys	missense variant	-	NC_000008.11:g.60845379A>G	NCI-TCGA
rs398124320	p.Tyr1727Ter	stop gained	-	NC_000008.11:g.60845380C>G	1000Genomes,ExAC,gnomAD
rs767264559	p.Lys1728Arg	missense variant	-	NC_000008.11:g.60845382A>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys1732Thr	missense variant	-	NC_000008.11:g.60845394A>C	NCI-TCGA
RCV000198147	p.His1734Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60845398dup	ClinVar
NCI-TCGA novel	p.Cys1735Arg	missense variant	-	NC_000008.11:g.60845402T>C	NCI-TCGA
rs1189896618	p.Asn1736Ile	missense variant	-	NC_000008.11:g.60845406A>T	gnomAD
NCI-TCGA novel	p.Asn1736Asp	missense variant	-	NC_000008.11:g.60845405A>G	NCI-TCGA
rs763879159	p.Lys1737Arg	missense variant	-	NC_000008.11:g.60845409A>G	ExAC,gnomAD
VAR_068135	p.Leu1739Arg	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
rs1376563036	p.Arg1741His	missense variant	-	NC_000008.11:g.60848526G>A	gnomAD
rs749724087	p.Val1742Ile	missense variant	-	NC_000008.11:g.60848528G>A	ExAC,gnomAD
VAR_072964	p.Val1742Asp	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
COSM6007446	p.Arg1743His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60848532G>A	NCI-TCGA Cosmic
rs771183981	p.Met1744Val	missense variant	-	NC_000008.11:g.60848534A>G	ExAC,gnomAD
VAR_069034	p.Leu1745Pro	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
rs1554603151	p.Tyr1746Ter	stop gained	-	NC_000008.11:g.60848542C>G	-
RCV000258087	p.Tyr1746Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60848539_60848540dup	ClinVar
RCV000558253	p.Tyr1746Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60848542C>G	ClinVar
NCI-TCGA novel	p.Leu1748Ile	missense variant	-	NC_000008.11:g.60848546C>A	NCI-TCGA
rs779276156	p.Arg1749Ile	missense variant	-	NC_000008.11:g.60848550G>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp1755Gly	missense variant	-	NC_000008.11:g.60848568A>G	NCI-TCGA
rs746364215	p.Ala1757Thr	missense variant	-	NC_000008.11:g.60848573G>A	ExAC,gnomAD
rs368747227	p.Ala1757Val	missense variant	-	NC_000008.11:g.60848574C>T	ESP,ExAC,TOPMed,gnomAD
rs368747227	p.Ala1757Glu	missense variant	-	NC_000008.11:g.60848574C>A	ESP,ExAC,TOPMed,gnomAD
rs371988345	p.Lys1759Glu	missense variant	-	NC_000008.11:g.60848579A>G	ESP,ExAC,TOPMed,gnomAD
rs768337293	p.Lys1759Asn	missense variant	-	NC_000008.11:g.60848581G>T	ExAC,TOPMed,gnomAD
rs371988345	p.Lys1759Gln	missense variant	-	NC_000008.11:g.60848579A>C	ESP,ExAC,TOPMed,gnomAD
RCV000595997	p.Lys1759Gln	missense variant	-	NC_000008.11:g.60848579A>C	ClinVar
NCI-TCGA novel	p.Lys1759Arg	missense variant	-	NC_000008.11:g.60848580A>G	NCI-TCGA
rs1467287076	p.Ile1760Val	missense variant	-	NC_000008.11:g.60848582A>G	gnomAD
rs774818972	p.Gly1763Ser	missense variant	-	NC_000008.11:g.60848591G>A	ExAC,TOPMed,gnomAD
rs774818972	p.Gly1763Cys	missense variant	-	NC_000008.11:g.60848591G>T	ExAC,TOPMed,gnomAD
rs764957919	p.Ala1764Val	missense variant	-	NC_000008.11:g.60848595C>T	ExAC,gnomAD
rs766488157	p.Asp1770Gly	missense variant	-	NC_000008.11:g.60849059A>G	ExAC,gnomAD
rs762824174	p.Asp1770Asn	missense variant	-	NC_000008.11:g.60849058G>A	ExAC,gnomAD
RCV000559758	p.Asp1770Gly	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60849059A>G	ClinVar
rs762824174	p.Asp1770Tyr	missense variant	-	NC_000008.11:g.60849058G>T	ExAC,gnomAD
RCV000413976	p.Trp1772Ter	nonsense	-	NC_000008.11:g.60849065G>A	ClinVar
rs1057517713	p.Trp1772Ter	stop gained	-	NC_000008.11:g.60849065G>A	-
rs1416086452	p.Glu1775Lys	missense variant	-	NC_000008.11:g.60849073G>A	gnomAD
rs759486970	p.Pro1776Arg	missense variant	-	NC_000008.11:g.60849077C>G	ExAC,gnomAD
rs759486970	p.Pro1776Leu	missense variant	-	NC_000008.11:g.60849077C>T	ExAC,gnomAD
rs764082970	p.His1778Leu	missense variant	-	NC_000008.11:g.60849083A>T	ExAC,gnomAD
rs753913368	p.Ala1779Val	missense variant	-	NC_000008.11:g.60849086C>T	ExAC,TOPMed,gnomAD
rs753913368	p.Ala1779Gly	missense variant	-	NC_000008.11:g.60849086C>G	ExAC,TOPMed,gnomAD
rs1373941657	p.Glu1780Val	missense variant	-	NC_000008.11:g.60849089A>T	gnomAD
rs1227627378	p.Val1781Ile	missense variant	-	NC_000008.11:g.60849091G>A	gnomAD
rs1291244519	p.Asp1784His	missense variant	-	NC_000008.11:g.60849100G>C	gnomAD
rs1554603276	p.Trp1785Ter	stop gained	-	NC_000008.11:g.60849105G>A	-
RCV000578165	p.Trp1785Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60849105G>A	ClinVar
rs1554603278	p.Asp1787Ala	missense variant	-	NC_000008.11:g.60849110A>C	-
RCV000623035	p.Asp1787Ala	missense variant	Inborn genetic diseases	NC_000008.11:g.60849110A>C	ClinVar
rs1233584524	p.Glu1789Asp	missense variant	-	NC_000008.11:g.60849117A>T	gnomAD
rs765474106	p.Glu1789Gly	missense variant	-	NC_000008.11:g.60849116A>G	ExAC,gnomAD
rs750793307	p.Ala1790Thr	missense variant	-	NC_000008.11:g.60849118G>A	ExAC,TOPMed,gnomAD
rs1554603283	p.Asp1791Asn	missense variant	-	NC_000008.11:g.60849121G>A	-
RCV000535790	p.Asp1791Asn	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60849121G>A	ClinVar
VAR_068136	p.Asp1791Glu	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
rs1305295515	p.Lys1792Arg	missense variant	-	NC_000008.11:g.60849125A>G	gnomAD
rs1554603285	p.Leu1794Val	missense variant	-	NC_000008.11:g.60849130C>G	-
RCV000484354	p.Leu1794Pro	missense variant	-	NC_000008.11:g.60849131T>C	ClinVar
COSM486567	p.Leu1794Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60849130C>A	NCI-TCGA Cosmic
rs1064795943	p.Leu1794Pro	missense variant	-	NC_000008.11:g.60849131T>C	-
RCV000624826	p.Leu1794Val	missense variant	Inborn genetic diseases	NC_000008.11:g.60849130C>G	ClinVar
RCV000624066	p.Ile1796Asn	missense variant	Inborn genetic diseases	NC_000008.11:g.60849137T>A	ClinVar
rs1554603290	p.Ile1796Asn	missense variant	-	NC_000008.11:g.60849137T>A	-
RCV000705652	p.Gly1797Arg	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60849139G>A	ClinVar
RCV000372174	p.Gly1797Ala	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60849140G>C	ClinVar
rs780597592	p.Gly1797Ala	missense variant	-	NC_000008.11:g.60849140G>C	ExAC,gnomAD
RCV000282364	p.Gly1797Ala	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60849140G>C	ClinVar
VAR_068403	p.Gly1797Val	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
rs1481262806	p.Lys1800Arg	missense variant	-	NC_000008.11:g.60849149A>G	gnomAD
RCV000722727	p.Lys1800Thr	missense variant	-	NC_000008.11:g.60849149A>C	ClinVar
rs1131692039	p.His1801Asn	missense variant	-	NC_000008.11:g.60849151C>A	-
RCV000494710	p.His1801Asn	missense variant	Kallmann syndrome 5 (KAL5)	NC_000008.11:g.60849151C>A	ClinVar
rs1554603293	p.Gly1802Ser	missense variant	-	NC_000008.11:g.60849154G>A	-
RCV000578161	p.Gly1802Ser	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60849154G>A	ClinVar
VAR_068137	p.Gly1802Asp	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
rs1021645395	p.Tyr1803Ter	stop gained	-	NC_000008.11:g.60850497T>G	TOPMed
RCV000578169	p.Tyr1803Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60850497T>G	ClinVar
NCI-TCGA novel	p.Glu1804Lys	missense variant	-	NC_000008.11:g.60850498G>A	NCI-TCGA
RCV000002102	p.Tyr1806Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60850506C>G	ClinVar
rs121434340	p.Tyr1806Ter	stop gained	-	NC_000008.11:g.60850506C>G	-
rs1001632406	p.Asn1807Thr	missense variant	-	NC_000008.11:g.60850508A>C	TOPMed
RCV000622688	p.Met1809Arg	missense variant	Inborn genetic diseases	NC_000008.11:g.60850514T>G	ClinVar
rs1554603550	p.Met1809Arg	missense variant	-	NC_000008.11:g.60850514T>G	-
rs755632561	p.Arg1810Gln	missense variant	-	NC_000008.11:g.60850517G>A	ExAC,TOPMed,gnomAD
RCV000599382	p.Arg1810Ter	nonsense	-	NC_000008.11:g.60850516C>T	ClinVar
RCV000548285	p.Arg1810Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60850516C>T	ClinVar
rs1554603552	p.Arg1810Ter	stop gained	-	NC_000008.11:g.60850516C>T	-
rs777085100	p.Ala1811Thr	missense variant	-	NC_000008.11:g.60850519G>A	ExAC,gnomAD
VAR_068405	p.Asp1812His	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
VAR_068404	p.Asp1812Gly	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
rs1317412492	p.Pro1813Leu	missense variant	-	NC_000008.11:g.60850526C>T	TOPMed,gnomAD
rs368609862	p.Ala1814Thr	missense variant	-	NC_000008.11:g.60850528G>A	ESP,ExAC,TOPMed,gnomAD
RCV000390634	p.Ala1814Thr	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60850528G>A	ClinVar
RCV000825306	p.Ala1814Thr	missense variant	-	NC_000008.11:g.60850528G>A	ClinVar
RCV000337409	p.Ala1814Thr	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60850528G>A	ClinVar
VAR_033248	p.Leu1815Pro	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
rs570691119	p.Cys1816Ser	missense variant	-	NC_000008.11:g.60850535G>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000722654	p.Cys1816Ser	missense variant	-	NC_000008.11:g.60850534T>A	ClinVar
RCV000793557	p.Cys1816Ser	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60850534T>A	ClinVar
rs570691119	p.Cys1816Tyr	missense variant	-	NC_000008.11:g.60850535G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000145676	p.Phe1817Cys	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60850538T>G	ClinVar
rs587783445	p.Phe1817Cys	missense variant	-	NC_000008.11:g.60850538T>G	-
NCI-TCGA novel	p.Leu1818Val	missense variant	-	NC_000008.11:g.60850540C>G	NCI-TCGA
rs372644599	p.Arg1820Gln	missense variant	-	NC_000008.11:g.60850547G>A	ESP,ExAC,TOPMed,gnomAD
RCV000472945	p.Arg1820Gln	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60850547G>A	ClinVar
RCV000145677	p.Arg1820Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60850546C>T	ClinVar
rs587783446	p.Arg1820Ter	stop gained	-	NC_000008.11:g.60850546C>T	gnomAD
RCV000275479	p.Arg1820Ter	nonsense	-	NC_000008.11:g.60850546C>T	ClinVar
NCI-TCGA novel	p.Gly1822Ser	missense variant	-	NC_000008.11:g.60850552G>A	NCI-TCGA
rs769931428	p.Met1823Val	missense variant	-	NC_000008.11:g.60850555A>G	ExAC,TOPMed,gnomAD
rs1218284722	p.Asp1825Tyr	missense variant	-	NC_000008.11:g.60850561G>T	gnomAD
rs1218284722	p.Asp1825Asn	missense variant	-	NC_000008.11:g.60850561G>A	gnomAD
rs763196772	p.Glu1832Lys	missense variant	-	NC_000008.11:g.60850582G>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu1832Ter	stop gained	-	NC_000008.11:g.60850582G>T	NCI-TCGA
rs1454656715	p.Arg1834Lys	missense variant	-	NC_000008.11:g.60850589G>A	gnomAD
rs751973003	p.Arg1834Gly	missense variant	-	NC_000008.11:g.60850588A>G	ExAC,gnomAD
rs1157866817	p.Thr1836Ala	missense variant	-	NC_000008.11:g.60850594A>G	gnomAD
NCI-TCGA novel	p.Asp1837Asn	missense variant	-	NC_000008.11:g.60850597G>A	NCI-TCGA
rs759918327	p.Met1838Val	missense variant	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)	NC_000008.11:g.60850600A>G	UniProt,dbSNP
VAR_072965	p.Met1838Val	missense variant	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)	NC_000008.11:g.60850600A>G	UniProt
rs759918327	p.Met1838Val	missense variant	-	NC_000008.11:g.60850600A>G	ExAC,gnomAD
rs374602567	p.Met1838Ile	missense variant	-	NC_000008.11:g.60850602G>A	ESP,ExAC,TOPMed,gnomAD
rs1318615046	p.Ala1840Val	missense variant	-	NC_000008.11:g.60850607C>T	gnomAD
rs1174618255	p.Asp1841His	missense variant	-	NC_000008.11:g.60850609G>C	TOPMed
rs756508860	p.Asp1844Asn	missense variant	-	NC_000008.11:g.60850618G>A	ExAC,gnomAD
rs985812567	p.Gly1845Ala	missense variant	-	NC_000008.11:g.60850622G>C	TOPMed,gnomAD
RCV000782253	p.Gly1845Arg	missense variant	-	NC_000008.11:g.60850621G>A	ClinVar
rs985812567	p.Gly1845Glu	missense variant	-	NC_000008.11:g.60850622G>A	TOPMed,gnomAD
rs753347128	p.Gly1845Arg	missense variant	-	NC_000008.11:g.60850621G>C	ExAC,TOPMed,gnomAD
rs753347128	p.Gly1845Arg	missense variant	-	NC_000008.11:g.60850621G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu1847Lys	missense variant	-	NC_000008.11:g.60851036G>A	NCI-TCGA
rs767925312	p.Arg1850Gly	missense variant	-	NC_000008.11:g.60851045A>G	ExAC,gnomAD
rs587783447	p.Glu1851Ter	stop gained	-	NC_000008.11:g.60851048G>T	-
RCV000145678	p.Glu1851Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60851048G>T	ClinVar
rs563402803	p.Pro1855Ser	missense variant	-	NC_000008.11:g.60851060C>T	1000Genomes
rs761265156	p.Glu1856Ala	missense variant	-	NC_000008.11:g.60851064A>C	ExAC,gnomAD
rs1439526686	p.Tyr1857His	missense variant	-	NC_000008.11:g.60851066T>C	gnomAD
rs1182352756	p.Pro1859Ser	missense variant	-	NC_000008.11:g.60851072C>T	gnomAD
rs764673467	p.Thr1862Lys	missense variant	-	NC_000008.11:g.60851082C>A	ExAC,gnomAD
rs753437069	p.Pro1863Leu	missense variant	-	NC_000008.11:g.60851085C>T	ExAC,TOPMed,gnomAD
rs201937995	p.Phe1864Leu	missense variant	-	NC_000008.11:g.60851087T>C	1000Genomes,ExAC,gnomAD
VAR_068138	p.Asp1866Gly	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
rs940237329	p.Ile1868Leu	missense variant	-	NC_000008.11:g.60851099A>C	TOPMed,gnomAD
rs940237329	p.Ile1868Val	missense variant	-	NC_000008.11:g.60851099A>G	TOPMed,gnomAD
COSM1100843	p.Ile1868Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60851101A>G	NCI-TCGA Cosmic
rs1315226690	p.Glu1870Gln	missense variant	-	NC_000008.11:g.60851262G>C	gnomAD
rs1403279129	p.Asn1873Asp	missense variant	-	NC_000008.11:g.60851271A>G	gnomAD
rs762351985	p.Pro1875Ser	missense variant	-	NC_000008.11:g.60851277C>T	ExAC,TOPMed,gnomAD
rs865985700	p.Ser1876Leu	missense variant	-	NC_000008.11:g.60851281C>T	TOPMed
rs865985700	p.Ser1876Ter	stop gained	-	NC_000008.11:g.60851281C>A	TOPMed
NCI-TCGA novel	p.Glu1877Asp	missense variant	-	NC_000008.11:g.60851285G>T	NCI-TCGA
NCI-TCGA novel	p.Glu1877Gln	missense variant	-	NC_000008.11:g.60851283G>C	NCI-TCGA
rs749861487	p.Asp1878Val	missense variant	-	NC_000008.11:g.60851287A>T	ExAC,TOPMed,gnomAD
COSM1100846	p.Asp1878Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60851286G>A	NCI-TCGA Cosmic
rs749861487	p.Asp1878Gly	missense variant	-	NC_000008.11:g.60851287A>G	ExAC,TOPMed,gnomAD
RCV000483542	p.Asp1878Gly	missense variant	-	NC_000008.11:g.60851287A>G	ClinVar
RCV000351953	p.Asp1878Gly	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60851287A>G	ClinVar
RCV000311193	p.Asp1878Gly	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60851287A>G	ClinVar
rs868111459	p.Lys1879Asn	missense variant	-	NC_000008.11:g.60851291G>T	gnomAD
RCV000195102	p.Glu1880Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60851292dup	ClinVar
rs904483064	p.Met1883Thr	missense variant	-	NC_000008.11:g.60851302T>C	TOPMed
NCI-TCGA novel	p.Ile1885Met	missense variant	-	NC_000008.11:g.60851309A>G	NCI-TCGA
rs1302701568	p.His1886Asp	missense variant	-	NC_000008.11:g.60851310C>G	gnomAD
rs1345679614	p.His1886Arg	missense variant	-	NC_000008.11:g.60851311A>G	gnomAD
rs1212851730	p.Ala1887Asp	missense variant	-	NC_000008.11:g.60851314C>A	gnomAD
RCV000717419	p.Ala1887Gly	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60851314C>G	ClinVar
rs1000527974	p.Thr1888Arg	missense variant	-	NC_000008.11:g.60851317C>G	TOPMed,gnomAD
rs1040512288	p.Gly1889Asp	missense variant	-	NC_000008.11:g.60852019G>A	gnomAD
NCI-TCGA novel	p.Gly1889Cys	missense variant	-	NC_000008.11:g.60851319G>T	NCI-TCGA
rs765797160	p.Glu1893Gly	missense variant	-	NC_000008.11:g.60852031A>G	ExAC,gnomAD
rs772816963	p.Ser1894Gly	missense variant	-	NC_000008.11:g.60852033A>G	ExAC,gnomAD
RCV000578387	p.Ser1894Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60852031_60852032AG[3]	ClinVar
rs762345019	p.Asn1895Ser	missense variant	-	NC_000008.11:g.60852037A>G	ExAC,TOPMed,gnomAD
rs766110936	p.Glu1897Lys	missense variant	-	NC_000008.11:g.60852042G>A	ExAC,TOPMed,gnomAD
rs1294090615	p.Leu1898Val	missense variant	-	NC_000008.11:g.60852045T>G	gnomAD
rs1131692325	p.Tyr1902Ter	stop gained	-	NC_000008.11:g.60852059C>G	-
RCV000496025	p.Tyr1902Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60852059C>G	ClinVar
NCI-TCGA novel	p.Tyr1902Ter	stop gained	-	NC_000008.11:g.60852059C>A	NCI-TCGA
rs1244745262	p.Asn1905Asp	missense variant	-	NC_000008.11:g.60852066A>G	TOPMed
rs1389567181	p.Thr1906Ser	missense variant	-	NC_000008.11:g.60852070C>G	gnomAD
rs1308890903	p.Ser1907Pro	missense variant	-	NC_000008.11:g.60852072T>C	gnomAD
NCI-TCGA novel	p.Ser1907Leu	missense variant	-	NC_000008.11:g.60852073C>T	NCI-TCGA
RCV000691946	p.Thr1908Pro	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60852075A>C	ClinVar
rs1313352713	p.Thr1908Asn	missense variant	-	NC_000008.11:g.60852076C>A	TOPMed
rs1329534393	p.Thr1908Pro	missense variant	-	NC_000008.11:g.60852075A>C	gnomAD
NCI-TCGA novel	p.Leu1909Met	missense variant	-	NC_000008.11:g.60852078C>A	NCI-TCGA
rs767326758	p.Arg1912His	missense variant	-	NC_000008.11:g.60852088G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg1912Cys	missense variant	-	NC_000008.11:g.60852087C>T	NCI-TCGA
VAR_072966	p.Arg1912Gly	Missense	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]	-	UniProt
rs373823856	p.Arg1914Cys	missense variant	-	NC_000008.11:g.60852093C>T	ESP,ExAC,TOPMed,gnomAD
COSM1100849	p.Arg1914His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60852094G>A	NCI-TCGA Cosmic
rs1024600310	p.Arg1915Gln	missense variant	-	NC_000008.11:g.60852097G>A	TOPMed
rs1303600577	p.Thr1918Ala	missense variant	-	NC_000008.11:g.60852105A>G	gnomAD
RCV000002107	p.Thr1918Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60852105dup	ClinVar
rs780114797	p.Ala1919Gly	missense variant	-	NC_000008.11:g.60852109C>G	ExAC
NCI-TCGA novel	p.Ala1919Val	missense variant	-	NC_000008.11:g.60852109C>T	NCI-TCGA
rs768950252	p.Tyr1920Cys	missense variant	-	NC_000008.11:g.60852112A>G	ExAC,gnomAD
RCV000308674	p.Tyr1920Cys	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60852112A>G	ClinVar
RCV000358777	p.Tyr1920Cys	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60852112A>G	ClinVar
rs1424250593	p.Arg1922Cys	missense variant	-	NC_000008.11:g.60852117C>T	TOPMed
rs1415922203	p.Arg1922His	missense variant	-	NC_000008.11:g.60852118G>A	gnomAD
rs769144470	p.Tyr1924Ser	missense variant	-	NC_000008.11:g.60852124A>C	ExAC,gnomAD
rs959102773	p.Lys1925Glu	missense variant	-	NC_000008.11:g.60852126A>G	-
rs770379195	p.Arg1926Lys	missense variant	-	NC_000008.11:g.60852130G>A	ExAC,gnomAD
rs770379195	p.Arg1926Thr	missense variant	-	NC_000008.11:g.60852130G>C	ExAC,gnomAD
COSM2152177	p.Gln1928Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60852136A>T	NCI-TCGA Cosmic
rs1363962894	p.Met1929Thr	missense variant	-	NC_000008.11:g.60852139T>C	TOPMed
rs535347450	p.Arg1930Lys	missense variant	-	NC_000008.11:g.60852142G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs762587324	p.Gln1931Glu	missense variant	-	NC_000008.11:g.60852144C>G	ExAC
NCI-TCGA novel	p.Glu1932Ala	missense variant	-	NC_000008.11:g.60852148A>C	NCI-TCGA
rs773867024	p.Ala1933Asp	missense variant	-	NC_000008.11:g.60852151C>A	ExAC,gnomAD
rs1418642683	p.Ala1933Thr	missense variant	-	NC_000008.11:g.60852150G>A	TOPMed
NCI-TCGA novel	p.Leu1934GlnPheSerTerUnk	frameshift	-	NC_000008.11:g.60852154T>-	NCI-TCGA
rs992024213	p.Arg1939Gly	missense variant	-	NC_000008.11:g.60852168C>G	TOPMed
rs992024213	p.Arg1939Trp	missense variant	-	NC_000008.11:g.60852168C>T	TOPMed
rs1024797402	p.Arg1939Gln	missense variant	-	NC_000008.11:g.60852169G>A	gnomAD
rs752539596	p.Arg1940Cys	missense variant	-	NC_000008.11:g.60852171C>T	ExAC,gnomAD
RCV000634442	p.Arg1942Trp	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60852177C>T	ClinVar
rs1203117062	p.Arg1942Gln	missense variant	-	NC_000008.11:g.60852178G>A	TOPMed,gnomAD
rs200441929	p.Arg1942Trp	missense variant	-	NC_000008.11:g.60852177C>T	ExAC,TOPMed,gnomAD
RCV000719861	p.Arg1942Trp	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60852177C>T	ClinVar
RCV000729031	p.Arg1942Trp	missense variant	-	NC_000008.11:g.60852177C>T	ClinVar
rs753723769	p.Arg1943Gln	missense variant	-	NC_000008.11:g.60852181G>A	ExAC,TOPMed,gnomAD
rs764160601	p.Arg1943Trp	missense variant	-	NC_000008.11:g.60852180C>T	ExAC,gnomAD
RCV000351337	p.Arg1943Gln	missense variant	-	NC_000008.11:g.60852181G>A	ClinVar
rs374040699	p.Arg1945Pro	missense variant	-	NC_000008.11:g.60852187G>C	ESP,ExAC,TOPMed,gnomAD
rs374040699	p.Arg1945Gln	missense variant	-	NC_000008.11:g.60852187G>A	ESP,ExAC,TOPMed,gnomAD
rs757160222	p.Arg1945Ter	stop gained	-	NC_000008.11:g.60852186C>T	ExAC,TOPMed,gnomAD
rs757160222	p.Arg1945Gly	missense variant	-	NC_000008.11:g.60852186C>G	ExAC,TOPMed,gnomAD
RCV000258138	p.Arg1945Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60852186C>T	ClinVar
RCV000414205	p.Arg1945Ter	nonsense	-	NC_000008.11:g.60852186C>T	ClinVar
COSM4911370	p.Val1948Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60852195G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Val1948Ala	missense variant	-	NC_000008.11:g.60852196T>C	NCI-TCGA
rs961305288	p.Arg1949Gly	missense variant	-	NC_000008.11:g.60852198A>G	gnomAD
RCV000717065	p.Ala1950Thr	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60852201G>A	ClinVar
rs1418971578	p.Ala1950Val	missense variant	-	NC_000008.11:g.60852202C>T	TOPMed,gnomAD
rs201423234	p.Ala1950Thr	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60852201G>A	UniProt,dbSNP
VAR_068139	p.Ala1950Thr	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60852201G>A	UniProt
rs201423234	p.Ala1950Thr	missense variant	-	NC_000008.11:g.60852201G>A	ESP,ExAC,TOPMed,gnomAD
rs755290171	p.Glu1952Asp	missense variant	-	NC_000008.11:g.60852209A>T	ExAC,gnomAD
rs781540403	p.Ala1953Thr	missense variant	-	NC_000008.11:g.60852210G>A	ExAC,gnomAD
rs748578338	p.Ala1953Val	missense variant	-	NC_000008.11:g.60852211C>T	ExAC,TOPMed,gnomAD
rs1360623669	p.Glu1954Asp	missense variant	-	NC_000008.11:g.60852215A>C	gnomAD
NCI-TCGA novel	p.Arg1955Ser	missense variant	-	NC_000008.11:g.60852218G>T	NCI-TCGA
rs778128475	p.Ile1959Thr	missense variant	-	NC_000008.11:g.60852229T>C	ExAC,gnomAD
rs749786629	p.Ser1960Cys	missense variant	-	NC_000008.11:g.60852232C>G	ExAC,TOPMed,gnomAD
rs749786629	p.Ser1960Tyr	missense variant	-	NC_000008.11:g.60852232C>A	ExAC,TOPMed,gnomAD
rs749786629	p.Ser1960Phe	missense variant	-	NC_000008.11:g.60852232C>T	ExAC,TOPMed,gnomAD
rs1191184806	p.Lys1962Glu	missense variant	-	NC_000008.11:g.60852237A>G	gnomAD
rs550425758	p.Arg1963Gln	missense variant	-	NC_000008.11:g.60852241G>A	1000Genomes,ExAC,gnomAD
rs550425758	p.Arg1963Pro	missense variant	-	NC_000008.11:g.60852241G>C	1000Genomes,ExAC,gnomAD
rs370280397	p.Arg1963Trp	missense variant	-	NC_000008.11:g.60852240C>T	ESP,ExAC,TOPMed,gnomAD
COSM1314140	p.Trp1966Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60852501G>C	NCI-TCGA Cosmic
rs1013310877	p.Ala1972Gly	missense variant	-	NC_000008.11:g.60852518C>G	TOPMed,gnomAD
rs1210754705	p.Ala1972Ser	missense variant	-	NC_000008.11:g.60852517G>T	gnomAD
COSM1100852	p.Arg1976Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60852529C>T	NCI-TCGA Cosmic
rs774925185	p.Arg1976His	missense variant	-	NC_000008.11:g.60852530G>A	ExAC,gnomAD
rs1386245550	p.Val1978Ile	missense variant	-	NC_000008.11:g.60852535G>A	TOPMed
NCI-TCGA novel	p.Ser1979Pro	missense variant	-	NC_000008.11:g.60852538T>C	NCI-TCGA
COSM3650080	p.Gly1982Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60852548G>A	NCI-TCGA Cosmic
RCV000770777	p.Gly1982Trp	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60852547G>T	ClinVar
rs1183427297	p.Ile1984Met	missense variant	-	NC_000008.11:g.60852555T>G	TOPMed
RCV000497324	p.Pro1987Ter	frameshift	-	NC_000008.11:g.60852563del	ClinVar
rs1478284862	p.Pro1987Ser	missense variant	-	NC_000008.11:g.60852562C>T	gnomAD
rs1157811368	p.Lys1989Arg	missense variant	-	NC_000008.11:g.60852569A>G	gnomAD
RCV000579248	p.Gln1990Ter	nonsense	-	NC_000008.11:g.60852571C>T	ClinVar
rs1554603970	p.Gln1990Ter	stop gained	-	NC_000008.11:g.60852571C>T	-
RCV000728953	p.Gln1991Ter	nonsense	-	NC_000008.11:g.60852574C>T	ClinVar
COSM4827146	p.Asp1993His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60852580G>C	NCI-TCGA Cosmic
rs776329773	p.Asp1993Asn	missense variant	-	NC_000008.11:g.60852580G>A	ExAC,TOPMed,gnomAD
rs1393186449	p.Asp1993Val	missense variant	-	NC_000008.11:g.60852581A>T	gnomAD
rs776329773	p.Asp1993Tyr	missense variant	-	NC_000008.11:g.60852580G>T	ExAC,TOPMed,gnomAD
rs761645571	p.Gln1996Glu	missense variant	-	NC_000008.11:g.60852589C>G	ExAC,gnomAD
rs1205740831	p.Phe1997Leu	missense variant	-	NC_000008.11:g.60852594T>G	TOPMed
rs1333355867	p.Arg1998Lys	missense variant	-	NC_000008.11:g.60852596G>A	gnomAD
RCV000482290	p.Ala1999Thr	missense variant	-	NC_000008.11:g.60852598G>A	ClinVar
rs1064794548	p.Ala1999Thr	missense variant	-	NC_000008.11:g.60852598G>A	gnomAD
rs1485572552	p.Ala2001Thr	missense variant	-	NC_000008.11:g.60852604G>A	TOPMed
rs1279344012	p.Arg2002Lys	missense variant	-	NC_000008.11:g.60852608G>A	gnomAD
rs765321307	p.Leu2003Phe	missense variant	-	NC_000008.11:g.60852610C>T	ExAC,gnomAD
rs762913963	p.Ser2007Tyr	missense variant	-	NC_000008.11:g.60852623C>A	ExAC,gnomAD
rs1334324535	p.Glu2009Lys	missense variant	-	NC_000008.11:g.60852628G>A	gnomAD
rs767713860	p.Ser2010Ile	missense variant	-	NC_000008.11:g.60852632G>T	ExAC,gnomAD
rs904822604	p.Glu2012Lys	missense variant	-	NC_000008.11:g.60852637G>A	TOPMed,gnomAD
COSM1100855	p.Lys2013Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60852641A>C	NCI-TCGA Cosmic
rs371849073	p.Phe2015Leu	missense variant	-	NC_000008.11:g.60852648C>G	ESP
rs756335050	p.Ala2020Val	missense variant	-	NC_000008.11:g.60852662C>T	ExAC,gnomAD
rs764358718	p.Arg2023Met	missense variant	-	NC_000008.11:g.60852671G>T	ExAC,gnomAD
rs1473449001	p.Arg2024Gln	missense variant	-	NC_000008.11:g.60852674G>A	gnomAD
rs1360515765	p.Arg2024Ter	stop gained	-	NC_000008.11:g.60852673C>T	TOPMed
rs1360515765	p.Arg2024Gly	missense variant	-	NC_000008.11:g.60852673C>G	TOPMed
RCV000659301	p.Arg2024Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60852673C>T	ClinVar
rs886040995	p.Arg2027Ter	stop gained	-	NC_000008.11:g.60852682C>T	-
RCV000525041	p.Arg2027Gln	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60852683G>A	ClinVar
RCV000330520	p.Arg2027Ter	nonsense	-	NC_000008.11:g.60852682C>T	ClinVar
rs372077201	p.Arg2027Gln	missense variant	-	NC_000008.11:g.60852683G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000258088	p.Arg2027Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60852682C>T	ClinVar
rs143796440	p.Val2030Ile	missense variant	-	NC_000008.11:g.60852691G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro2032Ser	missense variant	-	NC_000008.11:g.60852697C>T	NCI-TCGA
COSM461417	p.Asp2033His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60852700G>C	NCI-TCGA Cosmic
rs369023995	p.Asp2033Gly	missense variant	-	NC_000008.11:g.60852701A>G	ESP,ExAC,TOPMed,gnomAD
rs1328762003	p.Asp2034Asn	missense variant	-	NC_000008.11:g.60852703G>A	gnomAD
RCV000375513	p.Glu2035Ter	frameshift	-	NC_000008.11:g.60852830del	ClinVar
rs369543203	p.Pro2036Leu	missense variant	-	NC_000008.11:g.60852832C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro2036Ser	missense variant	-	NC_000008.11:g.60852831C>T	NCI-TCGA
rs754505212	p.Pro2037Leu	missense variant	-	NC_000008.11:g.60852835C>T	ExAC
rs1284580155	p.Pro2037Ser	missense variant	-	NC_000008.11:g.60852834C>T	TOPMed
rs1201861726	p.Asp2038Glu	missense variant	-	NC_000008.11:g.60852839C>A	gnomAD
rs747846723	p.Asp2038Asn	missense variant	-	NC_000008.11:g.60852837G>A	ExAC,gnomAD
RCV000316754	p.Asp2038Asn	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60852837G>A	ClinVar
RCV000375951	p.Asp2038Asn	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60852837G>A	ClinVar
rs1344431369	p.Leu2039Phe	missense variant	-	NC_000008.11:g.60852840C>T	TOPMed
RCV000693442	p.Leu2039Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60852839_60852845del	ClinVar
RCV000493813	p.Leu2039Ter	frameshift	-	NC_000008.11:g.60852839_60852845del	ClinVar
rs777755661	p.Ser2041Cys	missense variant	-	NC_000008.11:g.60852847C>G	ExAC,gnomAD
COSM268043	p.Ser2041Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60852847C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser2041Tyr	missense variant	-	NC_000008.11:g.60852847C>A	NCI-TCGA
rs1186153905	p.Ile2043Thr	missense variant	-	NC_000008.11:g.60852853T>C	gnomAD
rs1391407915	p.Pro2045Leu	missense variant	-	NC_000008.11:g.60852859C>T	gnomAD
rs774344042	p.Thr2047Ser	missense variant	-	NC_000008.11:g.60852864A>T	ExAC,gnomAD
RCV000623241	p.Glu2048Ter	frameshift	Inborn genetic diseases	NC_000008.11:g.60852866_60852867AG[1]	ClinVar
rs886040996	p.Arg2050Ter	stop gained	-	NC_000008.11:g.60852873C>T	-
RCV000258113	p.Arg2050Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60852873C>T	ClinVar
RCV000731505	p.Arg2050Ter	nonsense	-	NC_000008.11:g.60852873C>T	ClinVar
rs1464832497	p.Ser2052Phe	missense variant	-	NC_000008.11:g.60852880C>T	gnomAD
COSM3900876	p.Arg2053Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60852883G>A	NCI-TCGA Cosmic
rs587783450	p.Arg2053Ter	stop gained	-	NC_000008.11:g.60852882C>T	-
RCV000389698	p.Arg2053Ter	nonsense	-	NC_000008.11:g.60852882C>T	ClinVar
RCV000763601	p.Arg2053Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60852882C>T	ClinVar
RCV000145682	p.Arg2053Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60852882C>T	ClinVar
RCV000475738	p.Leu2055Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60852886_60852887CT[1]	ClinVar
rs1304862038	p.Leu2055Val	missense variant	-	NC_000008.11:g.60852888C>G	gnomAD
rs1189776580	p.Tyr2056Ser	missense variant	-	NC_000008.11:g.60852892A>C	TOPMed,gnomAD
RCV000255893	p.Tyr2056Ter	frameshift	-	NC_000008.11:g.60852890_60852891del	ClinVar
RCV000719854	p.Tyr2056Ser	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60852892A>C	ClinVar
rs192260844	p.Arg2057Cys	missense variant	-	NC_000008.11:g.60852894C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1318631549	p.Arg2057His	missense variant	-	NC_000008.11:g.60852895G>A	gnomAD
rs1229131453	p.Ile2058Val	missense variant	-	NC_000008.11:g.60852897A>G	gnomAD
RCV000438702	p.Glu2059Ter	nonsense	-	NC_000008.11:g.60852900G>T	ClinVar
rs1057520712	p.Glu2059Ter	stop gained	-	NC_000008.11:g.60852900G>T	-
rs1302545775	p.Leu2060Val	missense variant	-	NC_000008.11:g.60852903C>G	gnomAD
rs762055675	p.Arg2062Gln	missense variant	-	NC_000008.11:g.60852910G>A	ExAC,TOPMed,gnomAD
rs886063038	p.Arg2062Trp	missense variant	-	NC_000008.11:g.60852909C>T	TOPMed,gnomAD
RCV000485316	p.Arg2062Trp	missense variant	-	NC_000008.11:g.60852909C>T	ClinVar
rs200321575	p.Ile2064Val	missense variant	-	NC_000008.11:g.60852915A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1349507815	p.Ile2064Met	missense variant	-	NC_000008.11:g.60852917C>G	gnomAD
RCV000480035	p.Arg2065Gly	missense variant	-	NC_000008.11:g.60852918C>G	ClinVar
rs1197494895	p.Arg2065His	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60852919G>A	UniProt,dbSNP
VAR_068140	p.Arg2065His	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60852919G>A	UniProt
rs1197494895	p.Arg2065His	missense variant	-	NC_000008.11:g.60852919G>A	TOPMed
rs1064794250	p.Arg2065Gly	missense variant	-	NC_000008.11:g.60852918C>G	-
VAR_072967	p.Arg2065Cys	Missense	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]	-	UniProt
VAR_068141	p.Arg2065Ser	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
rs554056146	p.Glu2066Asp	missense variant	-	NC_000008.11:g.60852923G>C	1000Genomes
rs763289725	p.Glu2066Gln	missense variant	-	NC_000008.11:g.60852921G>C	ExAC,gnomAD
rs1439841156	p.Glu2066Gly	missense variant	-	NC_000008.11:g.60852922A>G	TOPMed
rs766862122	p.Gln2067Ter	stop gained	-	NC_000008.11:g.60852924C>T	ExAC,TOPMed,gnomAD
rs766862122	p.Gln2067Glu	missense variant	-	NC_000008.11:g.60852924C>G	ExAC,TOPMed,gnomAD
RCV000818234	p.Gln2067Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60852924C>T	ClinVar
RCV000247111	p.Gln2067Glu	missense variant	-	NC_000008.11:g.60852924C>G	ClinVar
RCV000578551	p.Gln2067Ter	nonsense	-	NC_000008.11:g.60852924C>T	ClinVar
rs752107963	p.Leu2069Val	missense variant	-	NC_000008.11:g.60852930C>G	ExAC,TOPMed,gnomAD
COSM3900877	p.His2071Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60852937A>G	NCI-TCGA Cosmic
rs1337291799	p.His2071Gln	missense variant	-	NC_000008.11:g.60852938C>A	TOPMed
rs780772673	p.Pro2072Ser	missense variant	-	NC_000008.11:g.60852939C>T	ExAC,TOPMed,gnomAD
rs752105151	p.Pro2072Leu	missense variant	-	NC_000008.11:g.60852940C>T	ExAC,gnomAD
VAR_068408	p.Leu2074Pro	Missense	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]	-	UniProt
VAR_068408	p.Leu2074Pro	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
rs1044805715	p.Glu2076Gln	missense variant	-	NC_000008.11:g.60852951G>C	TOPMed
rs1044805715	p.Glu2076Lys	missense variant	-	NC_000008.11:g.60852951G>A	TOPMed
VAR_069035	p.Arg2077Lys	Missense	-	-	UniProt
rs377497122	p.Lys2079Thr	missense variant	-	NC_000008.11:g.60852961A>C	ESP,ExAC,TOPMed,gnomAD
rs1064796615	p.Leu2080Pro	missense variant	-	NC_000008.11:g.60852964T>C	-
RCV000479492	p.Leu2080Pro	missense variant	-	NC_000008.11:g.60852964T>C	ClinVar
rs886041575	p.Cys2081Ter	stop gained	-	NC_000008.11:g.60852968C>A	-
RCV000283116	p.Cys2081Ter	nonsense	-	NC_000008.11:g.60852968C>A	ClinVar
RCV000341506	p.Pro2083Ser	missense variant	-	NC_000008.11:g.60852972C>T	ClinVar
rs773859400	p.Pro2083Leu	missense variant	-	NC_000008.11:g.60852973C>T	ExAC,TOPMed,gnomAD
rs370972259	p.Pro2083Ser	missense variant	-	NC_000008.11:g.60852972C>T	ESP,ExAC,TOPMed,gnomAD
rs1053438592	p.Ser2084Asn	missense variant	-	NC_000008.11:g.60852976G>A	TOPMed
RCV000145683	p.Ser2084Gly	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60852975A>G	ClinVar
rs201083157	p.Ser2084Gly	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60852975A>G	UniProt,dbSNP
VAR_068142	p.Ser2084Gly	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60852975A>G	UniProt
rs201083157	p.Ser2084Gly	missense variant	-	NC_000008.11:g.60852975A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs561398606	p.Leu2085Phe	missense variant	-	NC_000008.11:g.60852980G>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000473893	p.Leu2085Phe	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60852980G>T	ClinVar
rs748203271	p.Asp2086Val	missense variant	-	NC_000008.11:g.60852982A>T	ExAC,gnomAD
VAR_068409	p.Trp2091Arg	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
rs2068096	p.Glu2092Asp	missense variant	-	NC_000008.11:g.60853001G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766776212	p.Cys2093Tyr	missense variant	-	NC_000008.11:g.60853003G>A	ExAC,TOPMed,gnomAD
RCV000458917	p.Cys2093Tyr	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60853003G>A	ClinVar
rs760116437	p.Arg2095Trp	missense variant	-	NC_000008.11:g.60853008C>T	ExAC,TOPMed,gnomAD
rs773114816	p.Arg2095Gln	missense variant	-	NC_000008.11:g.60853009G>A	ExAC,gnomAD
COSM1457734	p.His2096Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60853012A>T	NCI-TCGA Cosmic
rs587783451	p.His2096Arg	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60853012A>G	UniProt,dbSNP
VAR_033249	p.His2096Arg	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60853012A>G	UniProt
rs587783451	p.His2096Arg	missense variant	-	NC_000008.11:g.60853012A>G	-
rs752317345	p.His2096Tyr	missense variant	-	NC_000008.11:g.60853011C>T	ExAC,gnomAD
RCV000145684	p.His2096Arg	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60853012A>G	ClinVar
VAR_068410	p.Asp2097Gly	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
RCV000474707	p.Arg2098Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60853017del	ClinVar
RCV000623636	p.Arg2098Ter	nonsense	Inborn genetic diseases	NC_000008.11:g.60853017C>T	ClinVar
RCV000211558	p.Arg2098Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60853017C>T	ClinVar
rs375199214	p.Arg2098Gln	missense variant	-	NC_000008.11:g.60853018G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs875989879	p.Arg2098Ter	stop gained	-	NC_000008.11:g.60853017C>T	-
rs763634286	p.Asp2099Gly	missense variant	-	NC_000008.11:g.60853021A>G	ExAC,gnomAD
RCV000414671	p.Val2102Phe	missense variant	-	NC_000008.11:g.60853029G>T	ClinVar
RCV000462388	p.Val2102Phe	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60853029G>T	ClinVar
rs368145189	p.Val2102Gly	missense variant	-	NC_000008.11:g.60853030T>G	ESP
rs753559567	p.Val2102Phe	missense variant	-	NC_000008.11:g.60853029G>T	ExAC,TOPMed,gnomAD
VAR_068411	p.Val2102Ile	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
RCV000177571	p.Gly2103Asp	missense variant	-	NC_000008.11:g.60853033G>A	ClinVar
rs794727555	p.Gly2103Asp	missense variant	-	NC_000008.11:g.60853033G>A	-
RCV000685996	p.Gly2103Asp	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60853033G>A	ClinVar
COSM4917553	p.Ala2104Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60853036C>T	NCI-TCGA Cosmic
rs756812977	p.Ala2105Val	missense variant	-	NC_000008.11:g.60853039C>T	ExAC,gnomAD
rs371785675	p.Lys2106Gln	missense variant	-	NC_000008.11:g.60853041A>C	ESP
RCV000002110	p.Gly2108Arg	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60853047G>A	ClinVar
rs121434343	p.Gly2108Arg	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60853047G>A	UniProt,dbSNP
VAR_068144	p.Gly2108Arg	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60853047G>A	UniProt
rs121434343	p.Gly2108Arg	missense variant	-	NC_000008.11:g.60853047G>A	-
NCI-TCGA novel	p.Gly2108Trp	missense variant	-	NC_000008.11:g.60853047G>T	NCI-TCGA
VAR_078703	p.Gly2108Trp	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
rs1407743636	p.Arg2111Gln	missense variant	-	NC_000008.11:g.60853057G>A	TOPMed,gnomAD
rs758409717	p.Thr2112Met	missense variant	-	NC_000008.11:g.60853060C>T	ExAC,TOPMed,gnomAD
rs758409717	p.Thr2112Met	missense variant	-	NC_000008.11:g.60853060C>T	UniProt,dbSNP
VAR_068412	p.Thr2112Met	missense variant	-	NC_000008.11:g.60853060C>T	UniProt
rs1184060590	p.Asp2113His	missense variant	-	NC_000008.11:g.60853062G>C	gnomAD
rs1232231607	p.Tyr2114Asp	missense variant	-	NC_000008.11:g.60853065T>G	gnomAD
rs375072758	p.His2115Tyr	missense variant	-	NC_000008.11:g.60853068C>T	ESP
rs1309976352	p.Ile2116Val	missense variant	-	NC_000008.11:g.60853071A>G	gnomAD
VAR_068145	p.Ile2116Asn	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
rs367733295	p.Leu2117Phe	missense variant	-	NC_000008.11:g.60853074C>T	ESP,ExAC,TOPMed,gnomAD
RCV000266545	p.Asn2118Ser	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60853078A>G	ClinVar
COSM1457736	p.Asn2118Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60853077A>G	NCI-TCGA Cosmic
rs199614124	p.Asn2118Ser	missense variant	-	NC_000008.11:g.60853078A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn2118GlnPheSerTerUnkUnk	frameshift	-	NC_000008.11:g.60853076_60853077insCAGCTTTTCCTCTTCATCCTCTTCGG	NCI-TCGA
VAR_068413	p.Asn2118Asp	Missense	-	-	UniProt
rs587783452	p.Asp2119Gly	missense variant	-	NC_000008.11:g.60853081A>G	-
RCV000145685	p.Asp2119Gly	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60853081A>G	ClinVar
NCI-TCGA novel	p.Asp2119Asn	missense variant	-	NC_000008.11:g.60853080G>A	NCI-TCGA
rs375490876	p.Pro2120Ala	missense variant	-	NC_000008.11:g.60853083C>G	ESP,ExAC,TOPMed,gnomAD
COSM3650081	p.Ser2123Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60853093C>T	NCI-TCGA Cosmic
rs1064794182	p.Asp2126Val	missense variant	-	NC_000008.11:g.60853102A>T	-
rs1162346018	p.Asp2126His	missense variant	-	NC_000008.11:g.60853101G>C	-
RCV000486326	p.Asp2126Val	missense variant	-	NC_000008.11:g.60853102A>T	ClinVar
rs774815426	p.Ala2127Thr	missense variant	-	NC_000008.11:g.60853104G>A	ExAC,TOPMed,gnomAD
rs759810386	p.His2128Arg	missense variant	-	NC_000008.11:g.60853108A>G	ExAC,gnomAD
rs1425597358	p.His2128Gln	missense variant	-	NC_000008.11:g.60853109T>G	gnomAD
rs768141725	p.Asn2130Ile	missense variant	-	NC_000008.11:g.60853114A>T	ExAC,gnomAD
NCI-TCGA novel	p.Asn2130ThrPheSerTerUnkUnk	frameshift	-	NC_000008.11:g.60853110A>-	NCI-TCGA
rs776147854	p.Phe2131Cys	missense variant	-	NC_000008.11:g.60853117T>G	ExAC,TOPMed,gnomAD
rs761209237	p.Ala2132Gly	missense variant	-	NC_000008.11:g.60853120C>G	ExAC,gnomAD
rs761209237	p.Ala2132Asp	missense variant	-	NC_000008.11:g.60853120C>A	ExAC,gnomAD
rs1370877838	p.Gln2133Lys	missense variant	-	NC_000008.11:g.60853122C>A	gnomAD
rs753361097	p.Asn2134Ser	missense variant	-	NC_000008.11:g.60853126A>G	ExAC,gnomAD
RCV000768181	p.Gly2136Glu	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60853132G>A	ClinVar
NCI-TCGA novel	p.Gly2136Arg	missense variant	-	NC_000008.11:g.60853131G>A	NCI-TCGA
COSM1100858	p.Ala2137Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60853135C>T	NCI-TCGA Cosmic
rs1163134257	p.Asn2139Asp	missense variant	-	NC_000008.11:g.60853140A>G	gnomAD
rs997501560	p.Thr2140Ile	missense variant	-	NC_000008.11:g.60853144C>T	TOPMed,gnomAD
COSM4399308	p.Ser2142Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60853150C>T	NCI-TCGA Cosmic
rs1228375112	p.Asn2144Ser	missense variant	-	NC_000008.11:g.60853156A>G	gnomAD
rs1332199774	p.Pro2145Ala	missense variant	-	NC_000008.11:g.60853158C>G	TOPMed
rs794727554	p.Leu2146Pro	missense variant	-	NC_000008.11:g.60853162T>C	TOPMed,gnomAD
RCV000177568	p.Leu2146Pro	missense variant	-	NC_000008.11:g.60853162T>C	ClinVar
rs551619917	p.Ala2147Thr	missense variant	-	NC_000008.11:g.60853164G>A	1000Genomes,ExAC,gnomAD
rs369433978	p.Gly2149Val	missense variant	-	NC_000008.11:g.60853171G>T	ESP,ExAC,TOPMed,gnomAD
rs369433978	p.Gly2149Glu	missense variant	-	NC_000008.11:g.60853171G>A	ESP,ExAC,TOPMed,gnomAD
RCV000193810	p.Gly2149Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60853171del	ClinVar
RCV000760702	p.Gln2152Ter	nonsense	-	NC_000008.11:g.60853179C>T	ClinVar
rs373241264	p.Gln2152Glu	missense variant	-	NC_000008.11:g.60853179C>G	ESP,ExAC,TOPMed,gnomAD
rs746961760	p.Gln2152His	missense variant	-	NC_000008.11:g.60853181G>C	ExAC,gnomAD
rs754858730	p.Pro2155Leu	missense variant	-	NC_000008.11:g.60853189C>T	ExAC,gnomAD
rs886063039	p.Ile2157Val	missense variant	-	NC_000008.11:g.60853194A>G	gnomAD
RCV000298183	p.Ile2157Val	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60853194A>G	ClinVar
RCV000353074	p.Ile2157Val	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60853194A>G	ClinVar
RCV000554486	p.Ser2158Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60853198C>A	ClinVar
rs376056567	p.Ser2158Leu	missense variant	-	NC_000008.11:g.60853198C>T	ESP,ExAC,TOPMed,gnomAD
rs376056567	p.Ser2158Ter	stop gained	-	NC_000008.11:g.60853198C>A	ESP,ExAC,TOPMed,gnomAD
RCV000704736	p.Ser2158Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60853198del	ClinVar
rs1173583013	p.Ser2159Pro	missense variant	-	NC_000008.11:g.60853200T>C	gnomAD
NCI-TCGA novel	p.Ser2159Cys	missense variant	-	NC_000008.11:g.60853201C>G	NCI-TCGA
rs61753399	p.Ala2160Thr	missense variant	-	NC_000008.11:g.60853203G>A	UniProt,dbSNP
VAR_068146	p.Ala2160Thr	missense variant	-	NC_000008.11:g.60853203G>A	UniProt
rs61753399	p.Ala2160Thr	missense variant	-	NC_000008.11:g.60853203G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000716492	p.Ala2160Thr	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60853203G>A	ClinVar
rs185505138	p.His2161Gln	missense variant	-	NC_000008.11:g.60853208T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His2161GluPheSerTerUnk	stop gained	-	NC_000008.11:g.60853204_60853205insAGAATGCCCTTGAATTCTCCCCAAG	NCI-TCGA
rs1362379706	p.Ile2162Thr	missense variant	-	NC_000008.11:g.60853210T>C	TOPMed,gnomAD
rs775949500	p.Glu2165Gly	missense variant	-	NC_000008.11:g.60853219A>G	ExAC,gnomAD
rs761297110	p.Arg2166Lys	missense variant	-	NC_000008.11:g.60853222G>A	ExAC,gnomAD
rs971937875	p.Val2167Ile	missense variant	-	NC_000008.11:g.60853224G>A	TOPMed,gnomAD
rs1219028832	p.Glu2169Lys	missense variant	-	NC_000008.11:g.60853230G>A	gnomAD
rs769254949	p.Gln2170Lys	missense variant	-	NC_000008.11:g.60853233C>A	ExAC,gnomAD
rs761214775	p.Glu2172Lys	missense variant	-	NC_000008.11:g.60853239G>A	ExAC,TOPMed,gnomAD
rs1247555658	p.Gly2173Asp	missense variant	-	NC_000008.11:g.60853243G>A	gnomAD
rs1227286217	p.Lys2174Arg	missense variant	-	NC_000008.11:g.60853246A>G	gnomAD
rs765006109	p.Lys2174Asn	missense variant	-	NC_000008.11:g.60853247A>T	ExAC,gnomAD
NCI-TCGA novel	p.Val2175Met	missense variant	-	NC_000008.11:g.60853248G>A	NCI-TCGA
rs1190482796	p.Glu2176Lys	missense variant	-	NC_000008.11:g.60853251G>A	gnomAD
RCV000195205	p.Glu2176Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60853251del	ClinVar
rs750047137	p.Glu2177Ter	stop gained	-	NC_000008.11:g.60853254G>T	ExAC,TOPMed,gnomAD
rs750047137	p.Glu2177Lys	missense variant	-	NC_000008.11:g.60853254G>A	ExAC,TOPMed,gnomAD
RCV000177569	p.Glu2177Ter	nonsense	-	NC_000008.11:g.60853254G>T	ClinVar
rs1477630480	p.Pro2178Arg	missense variant	-	NC_000008.11:g.60853258C>G	gnomAD
rs1170596680	p.Pro2181Ser	missense variant	-	NC_000008.11:g.60853266C>T	gnomAD
rs1426932703	p.Ala2182Asp	missense variant	-	NC_000008.11:g.60853270C>A	gnomAD
rs762607636	p.Ala2183Val	missense variant	-	NC_000008.11:g.60853273C>T	ExAC,TOPMed,gnomAD
rs549508773	p.Glu2185Ter	stop gained	-	NC_000008.11:g.60853278G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs567756521	p.Glu2185Val	missense variant	-	NC_000008.11:g.60853279A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs754943887	p.Lys2186Ile	missense variant	-	NC_000008.11:g.60853282A>T	ExAC,gnomAD
rs1436306152	p.Cys2187Gly	missense variant	-	NC_000008.11:g.60853284T>G	gnomAD
rs1273458526	p.Cys2187Ser	missense variant	-	NC_000008.11:g.60853285G>C	gnomAD
NCI-TCGA novel	p.Glu2188Gln	missense variant	-	NC_000008.11:g.60853287G>C	NCI-TCGA
rs727503867	p.Glu2191Lys	missense variant	-	NC_000008.11:g.60853296G>A	ExAC,TOPMed,gnomAD
COSM1489358	p.Glu2191Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60853296G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu2191Ter	stop gained	-	NC_000008.11:g.60853296G>T	NCI-TCGA
rs370361926	p.Glu2192Gln	missense variant	-	NC_000008.11:g.60853299G>C	ESP,ExAC,TOPMed,gnomAD
rs918223900	p.Glu2193Lys	missense variant	-	NC_000008.11:g.60853302G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Glu2194Lys	missense variant	-	NC_000008.11:g.60853305G>A	NCI-TCGA
rs778997142	p.Glu2195Gln	missense variant	-	NC_000008.11:g.60853308G>C	ExAC,gnomAD
COSM461415	p.Thr2196Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60853312C>T	NCI-TCGA Cosmic
rs772379262	p.Asp2197Asn	missense variant	-	NC_000008.11:g.60853314G>A	ExAC,TOPMed,gnomAD
RCV000479993	p.Asp2197Asn	missense variant	-	NC_000008.11:g.60853314G>A	ClinVar
rs1190410557	p.Gly2198Asp	missense variant	-	NC_000008.11:g.60853318G>A	TOPMed
NCI-TCGA novel	p.Gly2198Val	missense variant	-	NC_000008.11:g.60853318G>T	NCI-TCGA
RCV000479644	p.Ser2199Asn	missense variant	-	NC_000008.11:g.60853321G>A	ClinVar
rs1064794854	p.Ser2199Asn	missense variant	-	NC_000008.11:g.60853321G>A	TOPMed,gnomAD
rs747357928	p.Gly2200Arg	missense variant	-	NC_000008.11:g.60853323G>A	ExAC,TOPMed,gnomAD
rs1181074057	p.Gly2200Glu	missense variant	-	NC_000008.11:g.60853324G>A	gnomAD
rs747357928	p.Gly2200Trp	missense variant	-	NC_000008.11:g.60853323G>T	ExAC,TOPMed,gnomAD
rs769346640	p.Ser2203Ile	missense variant	-	NC_000008.11:g.60853333G>T	ExAC,gnomAD
rs769346640	p.Ser2203Asn	missense variant	-	NC_000008.11:g.60853333G>A	ExAC,gnomAD
rs1159267015	p.Lys2204Asn	missense variant	-	NC_000008.11:g.60853337G>T	gnomAD
rs777271566	p.Gln2205His	missense variant	-	NC_000008.11:g.60853340G>C	ExAC,gnomAD
rs886039688	p.Gln2205Ter	stop gained	-	NC_000008.11:g.60853338C>T	gnomAD
rs886039688	p.Gln2205Lys	missense variant	-	NC_000008.11:g.60853338C>A	gnomAD
RCV000254740	p.Gln2205Ter	nonsense	-	NC_000008.11:g.60853338C>T	ClinVar
rs762311606	p.Glu2206Lys	missense variant	-	NC_000008.11:g.60853341G>A	ExAC,TOPMed,gnomAD
rs769201064	p.Glu2206Asp	missense variant	-	NC_000008.11:g.60853343A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu2206Ter	stop gained	-	NC_000008.11:g.60853341G>T	NCI-TCGA
rs772728954	p.Cys2207Tyr	missense variant	-	NC_000008.11:g.60853345G>A	ExAC,TOPMed,gnomAD
rs1348901190	p.Ala2209Ser	missense variant	-	NC_000008.11:g.60853350G>T	gnomAD
rs1405897510	p.Ala2209Val	missense variant	-	NC_000008.11:g.60853351C>T	gnomAD
NCI-TCGA novel	p.Ala2209Thr	missense variant	-	NC_000008.11:g.60853350G>A	NCI-TCGA
rs374331681	p.Glu2210Gly	missense variant	-	NC_000008.11:g.60853354A>G	ESP,TOPMed,gnomAD
COSM3900878	p.Glu2210Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60853355G>T	NCI-TCGA Cosmic
rs765980827	p.Ala2211Ser	missense variant	-	NC_000008.11:g.60853356G>T	ExAC,gnomAD
rs765980827	p.Ala2211Thr	missense variant	-	NC_000008.11:g.60853356G>A	ExAC,gnomAD
rs1398262614	p.Ala2211Asp	missense variant	-	NC_000008.11:g.60853357C>A	TOPMed
RCV000719889	p.Ala2211Val	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60853357C>T	ClinVar
rs1398262614	p.Ala2211Val	missense variant	-	NC_000008.11:g.60853357C>T	TOPMed
NCI-TCGA novel	p.Ala2211PhePheSerTerUnk	frameshift	-	NC_000008.11:g.60853355_60853356insTTCGAGA	NCI-TCGA
NCI-TCGA novel	p.Ala2211PhePheSerTerUnk	frameshift	-	NC_000008.11:g.60853355_60853356insTTCGA	NCI-TCGA
rs377754319	p.Ser2213Pro	missense variant	-	NC_000008.11:g.60853362T>C	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Val2214Ala	missense variant	-	NC_000008.11:g.60853366T>C	NCI-TCGA
rs1208030571	p.Asn2216Ser	missense variant	-	NC_000008.11:g.60853372A>G	gnomAD
NCI-TCGA novel	p.Glu2217Ter	stop gained	-	NC_000008.11:g.60853374G>T	NCI-TCGA
rs767236681	p.Leu2218Pro	missense variant	-	NC_000008.11:g.60853378T>C	ExAC,gnomAD
rs752591881	p.Gly2220Asp	missense variant	-	NC_000008.11:g.60853384G>A	ExAC,TOPMed,gnomAD
rs752591881	p.Gly2220Ala	missense variant	-	NC_000008.11:g.60853384G>C	ExAC,TOPMed,gnomAD
rs778892168	p.Val2221Ile	missense variant	-	NC_000008.11:g.60853386G>A	ExAC,gnomAD
COSM3900879	p.Glu2222Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60853390A>G	NCI-TCGA Cosmic
rs758745100	p.Gly2224Ser	missense variant	-	NC_000008.11:g.60853395G>A	ExAC,TOPMed,gnomAD
rs374408098	p.Ala2225Thr	missense variant	-	NC_000008.11:g.60853398G>A	ESP,ExAC,TOPMed,gnomAD
rs1481144451	p.Asp2226Asn	missense variant	-	NC_000008.11:g.60853401G>A	TOPMed
rs755396598	p.Asp2226Gly	missense variant	-	NC_000008.11:g.60853402A>G	ExAC,gnomAD
rs1481144451	p.Asp2226His	missense variant	-	NC_000008.11:g.60853401G>C	TOPMed
rs1416622951	p.Thr2227Ser	missense variant	-	NC_000008.11:g.60853405C>G	gnomAD
rs200907656	p.Gly2228Arg	missense variant	-	NC_000008.11:g.60853407G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000596504	p.Gly2228Arg	missense variant	-	NC_000008.11:g.60853407G>A	ClinVar
NCI-TCGA novel	p.Gly2228LeuPheSerTerUnkUnk	frameshift	-	NC_000008.11:g.60853406_60853407insTTGCCTTC	NCI-TCGA
rs554415600	p.Ser2231Cys	missense variant	-	NC_000008.11:g.60853417C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs554415600	p.Ser2231Phe	missense variant	-	NC_000008.11:g.60853417C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000603332	p.Ser2231Cys	missense variant	-	NC_000008.11:g.60853417C>G	ClinVar
rs1329751221	p.Ile2232Val	missense variant	-	NC_000008.11:g.60853419A>G	TOPMed,gnomAD
rs1339995616	p.Lys2235Gln	missense variant	-	NC_000008.11:g.60853428A>C	gnomAD
rs889211152	p.Lys2235Arg	missense variant	-	NC_000008.11:g.60853429A>G	TOPMed
rs774000027	p.Gly2236Val	missense variant	-	NC_000008.11:g.60853432G>T	ExAC,TOPMed,gnomAD
COSM3650083	p.Ser2237Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60853435C>T	NCI-TCGA Cosmic
rs1227502557	p.Glu2238Lys	missense variant	-	NC_000008.11:g.60853437G>A	gnomAD
COSM751041	p.Glu2238Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.60853437G>T	NCI-TCGA Cosmic
rs760569636	p.Glu2239Gly	missense variant	-	NC_000008.11:g.60853441A>G	ExAC,gnomAD
rs760569636	p.Glu2239Ala	missense variant	-	NC_000008.11:g.60853441A>C	ExAC,gnomAD
rs1196057570	p.Asp2240Tyr	missense variant	-	NC_000008.11:g.60853443G>T	gnomAD
NCI-TCGA novel	p.Asp2240Gly	missense variant	-	NC_000008.11:g.60853444A>G	NCI-TCGA
rs1217394749	p.Glu2242Gly	missense variant	-	NC_000008.11:g.60853450A>G	TOPMed
RCV000723279	p.Leu2245Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60853459del	ClinVar
rs1284080485	p.Leu2245Val	missense variant	-	NC_000008.11:g.60853458C>G	TOPMed
NCI-TCGA novel	p.Glu2246Ter	stop gained	-	NC_000008.11:g.60853461G>T	NCI-TCGA
COSM1489360	p.Asp2247Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60853464G>T	NCI-TCGA Cosmic
rs1032877391	p.Asp2248Glu	missense variant	-	NC_000008.11:g.60853469C>A	gnomAD
rs751843304	p.Asp2249Glu	missense variant	-	NC_000008.11:g.60853472T>A	ExAC,TOPMed,gnomAD
rs766498514	p.Asp2249Asn	missense variant	-	NC_000008.11:g.60853470G>A	ExAC,TOPMed,gnomAD
RCV000177572	p.Asp2249Glu	missense variant	-	NC_000008.11:g.60853472T>A	ClinVar
rs962039483	p.Ser2251Leu	missense variant	-	NC_000008.11:g.60853477C>T	TOPMed
RCV000276528	p.Glu2252Ter	frameshift	-	NC_000008.11:g.60853479del	ClinVar
rs1057517956	p.Glu2253Ter	stop gained	-	NC_000008.11:g.60853482G>T	-
RCV000412832	p.Glu2253Ter	nonsense	-	NC_000008.11:g.60853482G>T	ClinVar
NCI-TCGA novel	p.Glu2253Gly	missense variant	-	NC_000008.11:g.60853483A>G	NCI-TCGA
rs1388747580	p.Ser2255Tyr	missense variant	-	NC_000008.11:g.60853489C>A	gnomAD
rs748511141	p.Gln2256Glu	missense variant	-	NC_000008.11:g.60853491C>G	ExAC,TOPMed,gnomAD
COSM3650084	p.Pro2257Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60853495C>T	NCI-TCGA Cosmic
rs970986435	p.Glu2258Lys	missense variant	-	NC_000008.11:g.60853497G>A	TOPMed
COSM1457740	p.Glu2258Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60853498A>G	NCI-TCGA Cosmic
RCV000719920	p.Ala2259Thr	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60853500G>A	ClinVar
RCV000424210	p.Ala2259Thr	missense variant	-	NC_000008.11:g.60853500G>A	ClinVar
rs200806228	p.Ala2259Thr	missense variant	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)	NC_000008.11:g.60853500G>A	UniProt,dbSNP
VAR_068414	p.Ala2259Thr	missense variant	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)	NC_000008.11:g.60853500G>A	UniProt
rs200806228	p.Ala2259Thr	missense variant	-	NC_000008.11:g.60853500G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs375383160	p.Ala2261Pro	missense variant	-	NC_000008.11:g.60854368G>C	ESP,ExAC,gnomAD
rs1047690374	p.Ala2261Val	missense variant	-	NC_000008.11:g.60854369C>T	TOPMed
rs375383160	p.Ala2261Thr	missense variant	-	NC_000008.11:g.60854368G>A	ESP,ExAC,gnomAD
RCV000320041	p.Ala2261Ter	frameshift	-	NC_000008.11:g.60854368del	ClinVar
COSM6181204	p.Arg2264Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60854378G>A	NCI-TCGA Cosmic
rs368750638	p.Gly2265Arg	missense variant	-	NC_000008.11:g.60854380G>A	ESP,ExAC,TOPMed,gnomAD
COSM751039	p.Phe2268Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60854391T>A	NCI-TCGA Cosmic
rs745361070	p.Asn2273Ser	missense variant	-	NC_000008.11:g.60854405A>G	ExAC,gnomAD
rs1329129099	p.Asn2273Asp	missense variant	-	NC_000008.11:g.60854404A>G	gnomAD
RCV000193258	p.Met2276Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60854412dup	ClinVar
rs746576881	p.Met2276Val	missense variant	-	NC_000008.11:g.60854413A>G	ExAC,gnomAD
rs1206316565	p.Met2276Thr	missense variant	-	NC_000008.11:g.60854414T>C	gnomAD
rs761873381	p.Asp2281Gly	missense variant	-	NC_000008.11:g.60854429A>G	ExAC,gnomAD
rs587783453	p.Asp2281Glu	missense variant	-	NC_000008.11:g.60854430T>G	-
RCV000543551	p.Asp2281Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60854428_60854429insTA	ClinVar
RCV000145688	p.Asp2281Glu	missense variant	-	NC_000008.11:g.60854430T>G	ClinVar
NCI-TCGA novel	p.Thr2283AsnPheSerTerUnkUnk	frameshift	-	NC_000008.11:g.60854431_60854432insA	NCI-TCGA
rs587783454	p.Arg2284Ter	stop gained	-	NC_000008.11:g.60854437C>T	-
rs542880173	p.Arg2284Gln	missense variant	-	NC_000008.11:g.60854438G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000429014	p.Arg2284Gln	missense variant	-	NC_000008.11:g.60854438G>A	ClinVar
RCV000145689	p.Arg2284Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60854437C>T	ClinVar
rs1201928870	p.Asp2285Gly	missense variant	-	NC_000008.11:g.60854441A>G	gnomAD
rs1431774874	p.Asp2285Asn	missense variant	-	NC_000008.11:g.60854440G>A	gnomAD
VAR_068415	p.Gly2286Ala	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
NCI-TCGA novel	p.Phe2287Leu	missense variant	-	NC_000008.11:g.60854448C>A	NCI-TCGA
rs561084367	p.Tyr2288Phe	missense variant	-	NC_000008.11:g.60854450A>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Met2289Ile	missense variant	-	NC_000008.11:g.60854454G>T	NCI-TCGA
rs1157045693	p.Gly2292Arg	missense variant	-	NC_000008.11:g.60854461G>A	gnomAD
NCI-TCGA novel	p.Asp2293Tyr	missense variant	-	NC_000008.11:g.60854464G>T	NCI-TCGA
rs767696409	p.Pro2294Ser	missense variant	-	NC_000008.11:g.60854467C>T	ExAC
RCV000687270	p.Ala2297Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60854475_60854476del	ClinVar
rs1057518891	p.Gln2298Ter	stop gained	-	NC_000008.11:g.60854479C>T	-
rs774683470	p.Gln2298His	missense variant	-	NC_000008.11:g.60854481G>T	ExAC,gnomAD
RCV000415206	p.Gln2298Ter	nonsense	Myopia	NC_000008.11:g.60854479C>T	ClinVar
rs774683470	p.Gln2298His	missense variant	-	NC_000008.11:g.60854481G>C	ExAC,gnomAD
rs754175606	p.Leu2299His	missense variant	-	NC_000008.11:g.60854483T>A	ExAC,gnomAD
rs764553219	p.Leu2299Ile	missense variant	-	NC_000008.11:g.60854482C>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg2303Thr	missense variant	-	NC_000008.11:g.60854495G>C	NCI-TCGA
NCI-TCGA novel	p.Arg2303Lys	missense variant	-	NC_000008.11:g.60854495G>A	NCI-TCGA
rs779378947	p.Phe2305Leu	missense variant	-	NC_000008.11:g.60854500T>C	ExAC,gnomAD
rs750003961	p.Phe2305Tyr	missense variant	-	NC_000008.11:g.60854501T>A	ExAC,gnomAD
rs1365225246	p.Ala2306Thr	missense variant	-	NC_000008.11:g.60854503G>A	TOPMed
rs1365225246	p.Ala2306Ser	missense variant	-	NC_000008.11:g.60854503G>T	TOPMed
rs757931215	p.Ala2306Val	missense variant	-	NC_000008.11:g.60854504C>T	ExAC,TOPMed,gnomAD
rs768152792	p.Ser2308Leu	missense variant	-	NC_000008.11:g.60854510C>T	ExAC,gnomAD
rs1470683238	p.Trp2310Gly	missense variant	-	NC_000008.11:g.60854515T>G	TOPMed
rs769906291	p.Pro2311Ser	missense variant	-	NC_000008.11:g.60854518C>T	ExAC,gnomAD
rs773275425	p.Pro2311Leu	missense variant	-	NC_000008.11:g.60854519C>T	ExAC,gnomAD
VAR_068416	p.Lys2312Thr	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
NCI-TCGA novel	p.Asn2318Ser	missense variant	-	NC_000008.11:g.60855991A>G	NCI-TCGA
rs121434341	p.Arg2319Cys	missense variant	-	NC_000008.11:g.60855993C>T	-
rs121434341	p.Arg2319Cys	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60855993C>T	UniProt,dbSNP
VAR_068148	p.Arg2319Cys	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60855993C>T	UniProt
rs765943226	p.Arg2319His	missense variant	-	NC_000008.11:g.60855994G>A	ExAC,TOPMed,gnomAD
rs121434341	p.Arg2319Ser	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60855993C>A	UniProt,dbSNP
VAR_033250	p.Arg2319Ser	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60855993C>A	UniProt
rs121434341	p.Arg2319Ser	missense variant	-	NC_000008.11:g.60855993C>A	-
RCV000002105	p.Arg2319Ser	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60855993C>A	ClinVar
RCV000224986	p.Arg2319Cys	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60855993C>T	ClinVar
rs757868659	p.Asp2321Glu	missense variant	-	NC_000008.11:g.60856001C>A	ExAC,TOPMed,gnomAD
rs754709055	p.Asp2321Tyr	missense variant	-	NC_000008.11:g.60855999G>T	ExAC,gnomAD
rs1427557686	p.Asp2321Gly	missense variant	-	NC_000008.11:g.60856000A>G	gnomAD
rs1446751218	p.Asn2322Lys	missense variant	-	NC_000008.11:g.60856004C>G	gnomAD
rs201470035	p.Asn2322Ser	missense variant	-	NC_000008.11:g.60856003A>G	ESP,ExAC,TOPMed,gnomAD
rs755973702	p.Ile2323Val	missense variant	-	NC_000008.11:g.60856005A>G	ExAC,gnomAD
COSM486571	p.Cys2324Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60856009G>A	NCI-TCGA Cosmic
rs777651369	p.Val2327Ala	missense variant	-	NC_000008.11:g.60856018T>C	ExAC,gnomAD
rs77704609	p.Gly2330Ala	missense variant	-	NC_000008.11:g.60856027G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs77704609	p.Gly2330Ala	missense variant	-	NC_000008.11:g.60856027G>C	UniProt,dbSNP
VAR_068149	p.Gly2330Ala	missense variant	-	NC_000008.11:g.60856027G>C	UniProt
rs77704609	p.Gly2330Asp	missense variant	-	NC_000008.11:g.60856027G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1554604771	p.Gly2330Ala	missense variant	-	NC_000008.11:g.60856027_60856028delinsCT	-
RCV000825057	p.Gly2330Ala	missense variant	-	NC_000008.11:g.60856027_60856028delinsCT	ClinVar
RCV000755927	p.Gly2330Ter	frameshift	-	NC_000008.11:g.60856027del	ClinVar
rs1271202716	p.Lys2331Glu	missense variant	-	NC_000008.11:g.60856029A>G	gnomAD
rs747050794	p.Lys2331Ile	missense variant	-	NC_000008.11:g.60856030A>T	ExAC,gnomAD
rs747050794	p.Lys2331Arg	missense variant	-	NC_000008.11:g.60856030A>G	ExAC,gnomAD
RCV000478076	p.Trp2332Ter	frameshift	-	NC_000008.11:g.60856032dup	ClinVar
RCV000177749	p.Trp2332Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60856033G>A	ClinVar
COSM1100864	p.Trp2332Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.60856034G>A	NCI-TCGA Cosmic
RCV000724065	p.Trp2332Ter	nonsense	-	NC_000008.11:g.60856033G>A	ClinVar
rs794727569	p.Trp2332Ter	stop gained	-	NC_000008.11:g.60856033G>A	-
rs1453511678	p.Val2334Leu	missense variant	-	NC_000008.11:g.60856038G>C	gnomAD
rs1222532492	p.Asn2335Ser	missense variant	-	NC_000008.11:g.60856042A>G	gnomAD
NCI-TCGA novel	p.Arg2336Gly	missense variant	-	NC_000008.11:g.60856044A>G	NCI-TCGA
rs765610436	p.Arg2337Ser	missense variant	-	NC_000008.11:g.60856047C>A	ExAC,TOPMed,gnomAD
rs765610436	p.Arg2337Cys	missense variant	-	NC_000008.11:g.60856047C>T	ExAC,TOPMed,gnomAD
rs763555514	p.Arg2337His	missense variant	-	NC_000008.11:g.60856048G>A	ExAC,TOPMed,gnomAD
COSM1100867	p.Gln2338Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60856051A>C	NCI-TCGA Cosmic
RCV000703681	p.Met2339Val	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60856053A>G	ClinVar
rs1184188163	p.Met2339Val	missense variant	-	NC_000008.11:g.60856053A>G	gnomAD
rs1184188163	p.Met2339Leu	missense variant	-	NC_000008.11:g.60856053A>T	gnomAD
rs1247369056	p.Met2339Ile	missense variant	-	NC_000008.11:g.60856055G>A	TOPMed,gnomAD
rs766773531	p.Phe2340Leu	missense variant	-	NC_000008.11:g.60856056T>C	ExAC,TOPMed,gnomAD
rs1419897952	p.Phe2342Leu	missense variant	-	NC_000008.11:g.60856062T>C	TOPMed,gnomAD
rs955440387	p.Ile2346Val	missense variant	-	NC_000008.11:g.60856074A>G	TOPMed
rs754527047	p.Gly2348Asp	missense variant	-	NC_000008.11:g.60856081G>A	ExAC,gnomAD
rs754527047	p.Gly2348Val	missense variant	-	NC_000008.11:g.60856081G>T	ExAC,gnomAD
rs368753931	p.Tyr2349His	missense variant	-	NC_000008.11:g.60856083T>C	ESP
rs987218749	p.Thr2350Ile	missense variant	-	NC_000008.11:g.60856087C>T	TOPMed
rs373370399	p.Pro2351Leu	missense variant	-	NC_000008.11:g.60856090C>T	ESP,ExAC,TOPMed,gnomAD
rs755790992	p.Val2354Ala	missense variant	-	NC_000008.11:g.60856099T>C	ExAC,gnomAD
rs1365102124	p.Asp2355Gly	missense variant	-	NC_000008.11:g.60856102A>G	gnomAD
rs1429162489	p.Ser2356Gly	missense variant	-	NC_000008.11:g.60856104A>G	gnomAD
rs1272345661	p.Ser2356Arg	missense variant	-	NC_000008.11:g.60856106C>A	gnomAD
rs1211299390	p.Pro2357Leu	missense variant	-	NC_000008.11:g.60856108C>T	TOPMed
rs1363086074	p.Pro2357Ser	missense variant	-	NC_000008.11:g.60856107C>T	gnomAD
rs947072247	p.Gln2359Glu	missense variant	-	NC_000008.11:g.60856113C>G	gnomAD
rs947072247	p.Gln2359Lys	missense variant	-	NC_000008.11:g.60856113C>A	gnomAD
rs1325869967	p.Arg2361Ser	missense variant	-	NC_000008.11:g.60856121G>T	gnomAD
rs777753993	p.Arg2361Lys	missense variant	-	NC_000008.11:g.60856120G>A	ExAC,TOPMed,gnomAD
RCV000340499	p.Arg2361Lys	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60856120G>A	ClinVar
RCV000405181	p.Arg2361Lys	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60856120G>A	ClinVar
rs139876661	p.Ser2362Asn	missense variant	-	NC_000008.11:g.60856123G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000634424	p.Ser2362Asn	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60856123G>A	ClinVar
RCV000081855	p.Ser2362Asn	missense variant	-	NC_000008.11:g.60856123G>A	ClinVar
rs1463501939	p.Phe2363Tyr	missense variant	-	NC_000008.11:g.60856126T>A	gnomAD
rs778712380	p.Ala2364Ser	missense variant	-	NC_000008.11:g.60856128G>T	ExAC,gnomAD
rs1326199102	p.Ala2364Val	missense variant	-	NC_000008.11:g.60856129C>T	TOPMed
rs541818422	p.Leu2366His	missense variant	-	NC_000008.11:g.60856135T>A	1000Genomes,ExAC,gnomAD
rs541818422	p.Leu2366Pro	missense variant	-	NC_000008.11:g.60856135T>C	1000Genomes,ExAC,gnomAD
rs541818422	p.Leu2366Arg	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60856135T>G	UniProt,dbSNP
VAR_068417	p.Leu2366Arg	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60856135T>G	UniProt
rs541818422	p.Leu2366Arg	missense variant	-	NC_000008.11:g.60856135T>G	1000Genomes,ExAC,gnomAD
rs769970846	p.Met2368Val	missense variant	-	NC_000008.11:g.60856140A>G	ExAC,TOPMed,gnomAD
rs1388968505	p.Met2368Ile	missense variant	-	NC_000008.11:g.60856142G>A	TOPMed
RCV000634434	p.Gly2370Ser	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60856146G>A	ClinVar
rs185940313	p.Gly2370Ser	missense variant	-	NC_000008.11:g.60856146G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs531223140	p.Gly2370Ala	missense variant	-	NC_000008.11:g.60856147G>C	1000Genomes,ExAC,gnomAD
rs185940313	p.Gly2370Arg	missense variant	-	NC_000008.11:g.60856146G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767155639	p.Gln2371His	missense variant	-	NC_000008.11:g.60856151A>C	ExAC,gnomAD
rs1346210224	p.Ala2372Thr	missense variant	-	NC_000008.11:g.60856152G>A	gnomAD
NCI-TCGA novel	p.Ala2372Ser	missense variant	-	NC_000008.11:g.60856152G>T	NCI-TCGA
rs142095932	p.Ile2374Val	missense variant	-	NC_000008.11:g.60856158A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1347629175	p.Ser2375Asn	missense variant	-	NC_000008.11:g.60856162G>A	gnomAD
RCV000760270	p.Ser2375Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60856161del	ClinVar
rs1436635568	p.Gly2376Glu	missense variant	-	NC_000008.11:g.60856165G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ser2377Gly	missense variant	-	NC_000008.11:g.60856167A>G	NCI-TCGA
RCV000634433	p.Glu2378Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60856170G>T	ClinVar
rs878975068	p.Glu2378Ter	stop gained	-	NC_000008.11:g.60856170G>T	-
NCI-TCGA novel	p.Glu2378Val	missense variant	-	NC_000008.11:g.60856171A>T	NCI-TCGA
RCV000658195	p.Ile2380Met	missense variant	-	NC_000008.11:g.60856178C>G	ClinVar
rs1287878235	p.Ile2380Met	missense variant	-	NC_000008.11:g.60856178C>G	TOPMed,gnomAD
rs1348628395	p.Thr2381Pro	missense variant	-	NC_000008.11:g.60856179A>C	gnomAD
rs763644892	p.Thr2381Ser	missense variant	-	NC_000008.11:g.60856180C>G	ExAC,gnomAD
rs189926848	p.Thr2382Met	missense variant	-	NC_000008.11:g.60856183C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs757007305	p.Ser2383Cys	missense variant	-	NC_000008.11:g.60856186C>G	ExAC,TOPMed,gnomAD
rs757007305	p.Ser2383Phe	missense variant	-	NC_000008.11:g.60856186C>T	ExAC,TOPMed,gnomAD
RCV000326053	p.Ser2383Ter	frameshift	-	NC_000008.11:g.60856183dup	ClinVar
rs1270702286	p.Pro2384Leu	missense variant	-	NC_000008.11:g.60856189C>T	gnomAD
NCI-TCGA novel	p.Leu2386Phe	missense variant	-	NC_000008.11:g.60856196G>T	NCI-TCGA
rs199966549	p.Asp2390Glu	missense variant	-	NC_000008.11:g.60856450T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1425669718	p.Ala2391Ser	missense variant	-	NC_000008.11:g.60856451G>T	gnomAD
rs1209205798	p.Ala2391Val	missense variant	-	NC_000008.11:g.60856452C>T	TOPMed
RCV000168185	p.Asn2393Lys	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60856459C>A	ClinVar
rs753446252	p.Asn2393Lys	missense variant	-	NC_000008.11:g.60856459C>A	ExAC,TOPMed
rs1168283468	p.Leu2394Ile	missense variant	-	NC_000008.11:g.60856460C>A	gnomAD
rs1285534131	p.Ser2395Pro	missense variant	-	NC_000008.11:g.60856463T>C	TOPMed
NCI-TCGA novel	p.Ser2395Tyr	missense variant	-	NC_000008.11:g.60856464C>A	NCI-TCGA
rs1446392968	p.Val2396Asp	missense variant	-	NC_000008.11:g.60856467T>A	gnomAD
rs1205123983	p.Pro2397Thr	missense variant	-	NC_000008.11:g.60856469C>A	TOPMed
rs370086501	p.Arg2398Cys	missense variant	-	NC_000008.11:g.60856472C>T	ESP,ExAC,gnomAD
rs758378293	p.Arg2398His	missense variant	-	NC_000008.11:g.60856473G>A	ExAC,TOPMed,gnomAD
VAR_072968	p.Arg2398Gly	Missense	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]	-	UniProt
rs1450447473	p.Gln2399Arg	missense variant	-	NC_000008.11:g.60856476A>G	gnomAD
rs770959300	p.Arg2400Trp	missense variant	-	NC_000008.11:g.60856478C>T	ExAC,TOPMed
rs534510177	p.Arg2400Gln	missense variant	-	NC_000008.11:g.60856479G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000545037	p.Arg2400Gln	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60856479G>A	ClinVar
COSM4828599	p.Arg2402Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60856484A>G	NCI-TCGA Cosmic
rs1291162127	p.Arg2402Trp	missense variant	-	NC_000008.11:g.60856484A>T	TOPMed
rs1383364362	p.Arg2403Gly	missense variant	-	NC_000008.11:g.60856487A>G	gnomAD
NCI-TCGA novel	p.Ile2407Val	missense variant	-	NC_000008.11:g.60856499A>G	NCI-TCGA
NCI-TCGA novel	p.Glu2408ThrPheSerTerUnk	frameshift	-	NC_000008.11:g.60856501_60856502insACAA	NCI-TCGA
rs1341064149	p.Glu2408Lys	missense variant	-	NC_000008.11:g.60856502G>A	TOPMed,gnomAD
rs1460548487	p.Glu2412Lys	missense variant	-	NC_000008.11:g.60856514G>A	TOPMed
rs779197369	p.Arg2413Ile	missense variant	-	NC_000008.11:g.60856518G>T	ExAC,gnomAD
rs746225415	p.Arg2413Ser	missense variant	-	NC_000008.11:g.60856519A>T	ExAC,gnomAD
rs772775834	p.Ala2414Ser	missense variant	-	NC_000008.11:g.60856520G>T	ExAC,TOPMed,gnomAD
rs776149801	p.Ala2414Val	missense variant	-	NC_000008.11:g.60856521C>T	ExAC,TOPMed,gnomAD
rs1463760760	p.Ala2415Val	missense variant	-	NC_000008.11:g.60856524C>T	TOPMed,gnomAD
rs41315633	p.Ala2415Ser	missense variant	-	NC_000008.11:g.60856523G>T	UniProt,dbSNP
VAR_068418	p.Ala2415Ser	missense variant	-	NC_000008.11:g.60856523G>T	UniProt
rs41315633	p.Ala2415Ser	missense variant	-	NC_000008.11:g.60856523G>T	1000Genomes,ExAC,gnomAD
rs776169011	p.Arg2417Met	missense variant	-	NC_000008.11:g.60856530G>T	ExAC,TOPMed,gnomAD
rs587783455	p.Arg2418Ter	stop gained	-	NC_000008.11:g.60856532C>T	-
RCV000145690	p.Arg2418Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60856532C>T	ClinVar
rs761410781	p.Arg2418Leu	missense variant	-	NC_000008.11:g.60856533G>T	ExAC,TOPMed,gnomAD
rs761410781	p.Arg2418Gln	missense variant	-	NC_000008.11:g.60856533G>A	ExAC,TOPMed,gnomAD
RCV000760307	p.Arg2418Ter	nonsense	-	NC_000008.11:g.60856532C>T	ClinVar
VAR_068150	p.Arg2418Gly	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
rs1406773161	p.Leu2420Phe	missense variant	-	NC_000008.11:g.60856538C>T	gnomAD
rs1064794834	p.Met2421Val	missense variant	-	NC_000008.11:g.60856541A>G	TOPMed,gnomAD
RCV000486584	p.Met2421Val	missense variant	-	NC_000008.11:g.60856541A>G	ClinVar
rs1342706035	p.Met2421Ile	missense variant	-	NC_000008.11:g.60856543G>T	gnomAD
rs1434214027	p.Met2421Arg	missense variant	-	NC_000008.11:g.60856542T>G	gnomAD
rs1434214027	p.Met2421Thr	missense variant	-	NC_000008.11:g.60856542T>C	gnomAD
rs1293236067	p.Met2423Leu	missense variant	-	NC_000008.11:g.60856547A>T	gnomAD
rs1293236067	p.Met2423Val	missense variant	-	NC_000008.11:g.60856547A>G	gnomAD
NCI-TCGA novel	p.Met2423Ile	missense variant	-	NC_000008.11:g.60856549G>T	NCI-TCGA
rs1327945597	p.Ala2425Ser	missense variant	-	NC_000008.11:g.60856553G>T	gnomAD
RCV000258097	p.Arg2428Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60856562dup	ClinVar
rs563360548	p.Arg2428Leu	missense variant	-	NC_000008.11:g.60856563G>T	1000Genomes,TOPMed,gnomAD
rs1320897198	p.Arg2428Ter	stop gained	-	NC_000008.11:g.60856562C>T	gnomAD
rs1320897198	p.Arg2428Gly	missense variant	-	NC_000008.11:g.60856562C>G	gnomAD
rs563360548	p.Arg2428Gln	missense variant	-	NC_000008.11:g.60856563G>A	1000Genomes,TOPMed,gnomAD
RCV000627047	p.Arg2428Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60856562C>T	ClinVar
RCV000623612	p.Arg2428Ter	frameshift	Inborn genetic diseases	NC_000008.11:g.60856561dup	ClinVar
rs773047607	p.Glu2429Ter	stop gained	-	NC_000008.11:g.60856565G>T	ExAC,gnomAD
rs773047607	p.Glu2429Lys	missense variant	-	NC_000008.11:g.60856565G>A	ExAC,gnomAD
RCV000462550	p.Glu2429Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60856565G>T	ClinVar
RCV000145691	p.Val2432Leu	missense variant	-	NC_000008.11:g.60856574G>T	ClinVar
rs372078650	p.Val2432Met	missense variant	-	NC_000008.11:g.60856574G>A	ESP,ExAC,TOPMed,gnomAD
rs372078650	p.Val2432Leu	missense variant	-	NC_000008.11:g.60856574G>T	ESP,ExAC,TOPMed,gnomAD
rs1220767368	p.Val2432Gly	missense variant	-	NC_000008.11:g.60856575T>G	TOPMed
rs766091347	p.Val2433Ile	missense variant	-	NC_000008.11:g.60856577G>A	ExAC,gnomAD
RCV000482952	p.Val2433Ter	frameshift	-	NC_000008.11:g.60856577del	ClinVar
NCI-TCGA novel	p.Gly2437Val	missense variant	-	NC_000008.11:g.60856590G>T	NCI-TCGA
NCI-TCGA novel	p.Gly2437Ter	stop gained	-	NC_000008.11:g.60856589G>T	NCI-TCGA
rs754894988	p.Gln2438Pro	missense variant	-	NC_000008.11:g.60856593A>C	ExAC,TOPMed,gnomAD
RCV000594650	p.Gln2438Pro	missense variant	-	NC_000008.11:g.60856593A>C	ClinVar
rs1060503188	p.Gln2438Ter	stop gained	-	NC_000008.11:g.60856592C>T	-
RCV000770775	p.Gln2438Glu	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60856592C>G	ClinVar
RCV000469838	p.Gln2438Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60856592C>T	ClinVar
rs754894988	p.Gln2438Arg	missense variant	-	NC_000008.11:g.60856593A>G	ExAC,TOPMed,gnomAD
rs1326554032	p.Val2441Ala	missense variant	-	NC_000008.11:g.60856602T>C	TOPMed
rs1430047995	p.Ala2447Ser	missense variant	-	NC_000008.11:g.60856619G>T	TOPMed,gnomAD
rs1430047995	p.Ala2447Thr	missense variant	-	NC_000008.11:g.60856619G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ser2448Ter	stop gained	-	NC_000008.11:g.60856623C>G	NCI-TCGA
rs727503870	p.Arg2449Thr	missense variant	-	NC_000008.11:g.60856626G>C	ExAC,TOPMed,gnomAD
rs746021992	p.Thr2452Ile	missense variant	-	NC_000008.11:g.60856635C>T	ExAC,gnomAD
rs1224946467	p.Ser2453Gly	missense variant	-	NC_000008.11:g.60856637A>G	TOPMed,gnomAD
rs935560876	p.Ser2454Ala	missense variant	-	NC_000008.11:g.60856640T>G	TOPMed,gnomAD
rs546481718	p.Thr2455Ala	missense variant	-	NC_000008.11:g.60856643A>G	1000Genomes,ExAC,gnomAD
COSM422089	p.Asn2457Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60856649A>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn2457Ile	missense variant	-	NC_000008.11:g.60856650A>T	NCI-TCGA
COSM1457744	p.Phe2458Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60856652T>G	NCI-TCGA Cosmic
COSM1100885	p.Phe2458Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60856653T>G	NCI-TCGA Cosmic
rs1258171197	p.Ser2460Cys	missense variant	-	NC_000008.11:g.60856659C>G	TOPMed,gnomAD
COSM1100888	p.Leu2461Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60856661C>T	NCI-TCGA Cosmic
rs1487098788	p.Ser2462Phe	missense variant	-	NC_000008.11:g.60856665C>T	TOPMed,gnomAD
RCV000145692	p.Ser2462Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60856660_60856663TCTT[1]	ClinVar
NCI-TCGA novel	p.Ser2462Pro	missense variant	-	NC_000008.11:g.60856664T>C	NCI-TCGA
VAR_068419	p.Lys2464Glu	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
NCI-TCGA novel	p.Phe2465Cys	missense variant	-	NC_000008.11:g.60856674T>G	NCI-TCGA
NCI-TCGA novel	p.Ile2466Thr	missense variant	-	NC_000008.11:g.60856677T>C	NCI-TCGA
NCI-TCGA novel	p.Ile2466Phe	missense variant	-	NC_000008.11:g.60856676A>T	NCI-TCGA
rs1206124736	p.Asn2469Thr	missense variant	-	NC_000008.11:g.60856686A>C	TOPMed,gnomAD
rs769178123	p.Ser2471Pro	missense variant	-	NC_000008.11:g.60856691T>C	ExAC,TOPMed,gnomAD
RCV000634413	p.Ser2471Pro	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60856691T>C	ClinVar
RCV000766023	p.Ser2471Pro	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60856691T>C	ClinVar
rs372546969	p.Thr2472Ala	missense variant	-	NC_000008.11:g.60856694A>G	ESP,ExAC,TOPMed,gnomAD
rs747677437	p.Thr2472Lys	missense variant	-	NC_000008.11:g.60856695C>A	ExAC,gnomAD
rs747677437	p.Thr2472Ile	missense variant	-	NC_000008.11:g.60856695C>T	ExAC,gnomAD
rs772852129	p.Pro2473Arg	missense variant	-	NC_000008.11:g.60856698C>G	ExAC,gnomAD
rs1473386111	p.Val2474Ala	missense variant	-	NC_000008.11:g.60856701T>C	gnomAD
rs762534670	p.Ala2477Ser	missense variant	-	NC_000008.11:g.60856709G>T	ExAC,gnomAD
rs375203135	p.Phe2478Ser	missense variant	-	NC_000008.11:g.60856713T>C	ESP,ExAC,TOPMed,gnomAD
rs1159377366	p.Phe2478Leu	missense variant	-	NC_000008.11:g.60856712T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Thr2480Ser	missense variant	-	NC_000008.11:g.60856718A>T	NCI-TCGA
rs759430638	p.Gln2481Pro	missense variant	-	NC_000008.11:g.60856722A>C	ExAC
rs767478916	p.Gln2481His	missense variant	-	NC_000008.11:g.60856723A>C	ExAC,gnomAD
NCI-TCGA novel	p.Gln2481Ter	stop gained	-	NC_000008.11:g.60856721C>T	NCI-TCGA
rs753934351	p.Met2482Thr	missense variant	-	NC_000008.11:g.60856725T>C	ExAC
rs369402366	p.Met2482Val	missense variant	-	NC_000008.11:g.60856724A>G	ESP,TOPMed,gnomAD
rs757364159	p.Met2482Ile	missense variant	-	NC_000008.11:g.60856726G>A	ExAC,gnomAD
rs398124323	p.Glu2483Lys	missense variant	-	NC_000008.11:g.60856727G>A	ExAC,gnomAD
RCV000081858	p.Glu2483Lys	missense variant	-	NC_000008.11:g.60856727G>A	ClinVar
rs750700125	p.Ala2487Thr	missense variant	-	NC_000008.11:g.60856739G>A	ExAC,gnomAD
rs1349434680	p.Ala2487Val	missense variant	-	NC_000008.11:g.60856740C>T	gnomAD
rs398124324	p.Gly2488Asp	missense variant	-	NC_000008.11:g.60856743G>A	TOPMed,gnomAD
RCV000081859	p.Gly2488Asp	missense variant	-	NC_000008.11:g.60856743G>A	ClinVar
rs889746241	p.Leu2489Phe	missense variant	-	NC_000008.11:g.60856745C>T	TOPMed
rs371595770	p.Ser2490Leu	missense variant	-	NC_000008.11:g.60856749C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1319276265	p.Ser2490Pro	missense variant	-	NC_000008.11:g.60856748T>C	gnomAD
rs371595770	p.Ser2490Trp	missense variant	-	NC_000008.11:g.60856749C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs528722099	p.Arg2491His	missense variant	-	NC_000008.11:g.60856752G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs755492299	p.Arg2491Cys	missense variant	-	NC_000008.11:g.60856751C>T	ExAC,TOPMed,gnomAD
rs755492299	p.Arg2491Cys	missense variant	-	NC_000008.11:g.60856751C>T	UniProt,dbSNP
VAR_068421	p.Arg2491Cys	missense variant	-	NC_000008.11:g.60856751C>T	UniProt
NCI-TCGA novel	p.Pro2493Arg	missense variant	-	NC_000008.11:g.60856758C>G	NCI-TCGA
RCV000368233	p.Thr2494Ile	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60856761C>T	ClinVar
RCV000311256	p.Thr2494Ile	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60856761C>T	ClinVar
rs201514840	p.Thr2494Ile	missense variant	-	NC_000008.11:g.60856761C>T	ESP,ExAC,TOPMed,gnomAD
rs1175584387	p.Arg2495Trp	missense variant	-	NC_000008.11:g.60856763A>T	gnomAD
rs777215250	p.Arg2495Met	missense variant	-	NC_000008.11:g.60856764G>T	ExAC,gnomAD
rs777215250	p.Arg2495Lys	missense variant	-	NC_000008.11:g.60856764G>A	ExAC,gnomAD
rs547209998	p.Arg2495Ser	missense variant	-	NC_000008.11:g.60856765G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs547209998	p.Arg2495Ser	missense variant	-	NC_000008.11:g.60856765G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs547209998	p.Arg2495Ser	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60856765G>C	UniProt,dbSNP
VAR_068151	p.Arg2495Ser	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60856765G>C	UniProt
rs200366208	p.His2496Arg	missense variant	-	NC_000008.11:g.60856767A>G	1000Genomes,ExAC,gnomAD
rs771698896	p.Leu2497Phe	missense variant	-	NC_000008.11:g.60856769C>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu2498Phe	missense variant	-	NC_000008.11:g.60856772C>T	NCI-TCGA
rs1435775458	p.Gly2500Asp	missense variant	-	NC_000008.11:g.60856779G>A	TOPMed,gnomAD
rs1435775458	p.Gly2500Val	missense variant	-	NC_000008.11:g.60856779G>T	TOPMed,gnomAD
COSM3650087	p.Ser2501Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60856782C>T	NCI-TCGA Cosmic
COSM1569595	p.Leu2502Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60856784C>G	NCI-TCGA Cosmic
rs775511111	p.Asp2504His	missense variant	-	NC_000008.11:g.60856790G>C	ExAC,gnomAD
RCV000599002	p.Pro2508Ter	frameshift	-	NC_000008.11:g.60856804del	ClinVar
COSM1100894	p.Met2509Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60856805A>G	NCI-TCGA Cosmic
rs1353592744	p.Arg2511Ser	missense variant	-	NC_000008.11:g.60856813G>C	gnomAD
rs1232482561	p.Arg2512Lys	missense variant	-	NC_000008.11:g.60856815G>A	TOPMed
rs529799008	p.Arg2513Gly	missense variant	-	NC_000008.11:g.60856817C>G	1000Genomes,ExAC,gnomAD
RCV000485070	p.Arg2513Gln	missense variant	-	NC_000008.11:g.60856818G>A	ClinVar
rs1064794649	p.Arg2513Gln	missense variant	-	NC_000008.11:g.60856818G>A	gnomAD
rs529799008	p.Arg2513Trp	missense variant	-	NC_000008.11:g.60856817C>T	1000Genomes,ExAC,gnomAD
rs1202775853	p.Arg2516Trp	missense variant	-	NC_000008.11:g.60856826A>T	TOPMed
NCI-TCGA novel	p.Lys2517Glu	missense variant	-	NC_000008.11:g.60856829A>G	NCI-TCGA
rs1314947943	p.Val2519Ala	missense variant	-	NC_000008.11:g.60856836T>C	gnomAD
rs766692840	p.Leu2522Ile	missense variant	-	NC_000008.11:g.60856844C>A	ExAC,gnomAD
rs751931671	p.Leu2524Val	missense variant	-	NC_000008.11:g.60856850C>G	ExAC,TOPMed,gnomAD
rs1307898432	p.Met2527Ile	missense variant	-	NC_000008.11:g.60856861G>T	TOPMed,gnomAD
RCV000362260	p.Met2527Leu	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60856859A>C	ClinVar
rs192129249	p.Met2527Leu	missense variant	-	NC_000008.11:g.60856859A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs192129249	p.Met2527Val	missense variant	-	NC_000008.11:g.60856859A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000716204	p.Met2527Leu	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60856859A>C	ClinVar
rs1372032849	p.Ser2528Asn	missense variant	-	NC_000008.11:g.60856863G>A	TOPMed
rs756572879	p.His2529Arg	missense variant	-	NC_000008.11:g.60856866A>G	ExAC,TOPMed,gnomAD
rs777303307	p.Lys2530Arg	missense variant	-	NC_000008.11:g.60856869A>G	ExAC,TOPMed,gnomAD
rs938384668	p.Arg2531Gln	missense variant	-	NC_000008.11:g.60856872G>A	gnomAD
rs369550114	p.Arg2531Trp	missense variant	-	NC_000008.11:g.60856871C>T	ESP,ExAC,TOPMed,gnomAD
RCV000768182	p.Thr2532Met	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60856875C>T	ClinVar
RCV000724539	p.Thr2532Met	missense variant	-	NC_000008.11:g.60856875C>T	ClinVar
rs201032343	p.Thr2532Met	missense variant	-	NC_000008.11:g.60856875C>T	ESP,ExAC,TOPMed,gnomAD
rs1161958266	p.Leu2534Phe	missense variant	-	NC_000008.11:g.60856882G>T	TOPMed
rs1554605162	p.Ser2535Arg	missense variant	-	NC_000008.11:g.60856883A>C	-
RCV000504139	p.Ser2535Arg	missense variant	-	NC_000008.11:g.60856883A>C	ClinVar
rs1173657826	p.Asp2538Asn	missense variant	-	NC_000008.11:g.60860907G>A	gnomAD
rs986284106	p.Ala2539Val	missense variant	-	NC_000008.11:g.60860911C>T	TOPMed
RCV000481551	p.Ala2544Ter	frameshift	-	NC_000008.11:g.60860924del	ClinVar
RCV000406220	p.Glu2547Ter	frameshift	-	NC_000008.11:g.60860936_60860946del	ClinVar
rs1167563833	p.Asp2548His	missense variant	-	NC_000008.11:g.60860937G>C	TOPMed
rs1430755213	p.Ile2549Val	missense variant	-	NC_000008.11:g.60860940A>G	gnomAD
rs374044223	p.Ile2549Thr	missense variant	-	NC_000008.11:g.60860941T>C	ESP,ExAC,TOPMed,gnomAD
rs1554605973	p.Glu2550Ter	stop gained	-	NC_000008.11:g.60860943G>T	-
RCV000659302	p.Glu2550Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60860943G>T	ClinVar
RCV000482479	p.Glu2550Ter	frameshift	-	NC_000008.11:g.60860942dup	ClinVar
rs942070972	p.Thr2551Asn	missense variant	-	NC_000008.11:g.60860947C>A	TOPMed
RCV000413712	p.Pro2553Ter	frameshift	-	NC_000008.11:g.60860950dup	ClinVar
rs779951912	p.Thr2554Lys	missense variant	-	NC_000008.11:g.60860956C>A	ExAC,gnomAD
RCV000199327	p.Arg2555Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60860958del	ClinVar
rs1429070313	p.Arg2555Lys	missense variant	-	NC_000008.11:g.60860959G>A	gnomAD
rs746789759	p.Arg2555Gly	missense variant	-	NC_000008.11:g.60860958A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn2556Ser	missense variant	-	NC_000008.11:g.60860962A>G	NCI-TCGA
RCV000634436	p.Pro2558Leu	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60860968C>T	ClinVar
rs1341387039	p.Pro2558Ser	missense variant	-	NC_000008.11:g.60860967C>T	TOPMed,gnomAD
rs776711005	p.Pro2558Leu	missense variant	-	NC_000008.11:g.60860968C>T	ExAC,TOPMed,gnomAD
RCV000766024	p.Pro2558Leu	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60860968C>T	ClinVar
rs748036782	p.Pro2560Ser	missense variant	-	NC_000008.11:g.60860973C>T	ExAC,gnomAD
rs774255090	p.Gly2561Arg	missense variant	-	NC_000008.11:g.60860976G>A	ExAC,TOPMed,gnomAD
rs1046787337	p.Gly2561Glu	missense variant	-	NC_000008.11:g.60860977G>A	TOPMed,gnomAD
rs767610555	p.Thr2567Ile	missense variant	-	NC_000008.11:g.60860995C>T	ExAC,TOPMed,gnomAD
rs369807016	p.Arg2568Gln	missense variant	-	NC_000008.11:g.60860998G>A	TOPMed,gnomAD
rs775888715	p.Arg2568Trp	missense variant	-	NC_000008.11:g.60860997C>T	ExAC,TOPMed,gnomAD
rs761034050	p.Pro2570Ala	missense variant	-	NC_000008.11:g.60861003C>G	ExAC,TOPMed,gnomAD
rs761034050	p.Pro2570Ser	missense variant	-	NC_000008.11:g.60861003C>T	ExAC,TOPMed,gnomAD
rs757721295	p.Ile2572Thr	missense variant	-	NC_000008.11:g.60861010T>C	ExAC,TOPMed,gnomAD
rs754365916	p.Ile2572Val	missense variant	-	NC_000008.11:g.60861009A>G	ExAC,gnomAD
rs373347581	p.Ile2572Met	missense variant	-	NC_000008.11:g.60861011C>G	TOPMed
rs764847747	p.Asn2573Ser	missense variant	-	NC_000008.11:g.60861013A>G	ExAC,TOPMed,gnomAD
rs375629413	p.Leu2574Ile	missense variant	-	NC_000008.11:g.60861015C>A	ESP,ExAC,TOPMed
NCI-TCGA novel	p.Glu2575Gln	missense variant	-	NC_000008.11:g.60861018G>C	NCI-TCGA
NCI-TCGA novel	p.Arg2579Met	missense variant	-	NC_000008.11:g.60861031G>T	NCI-TCGA
rs1408626113	p.Gly2582Ala	missense variant	-	NC_000008.11:g.60861040G>C	TOPMed
rs1427104456	p.Asp2584Glu	missense variant	-	NC_000008.11:g.60861047T>A	TOPMed
COSM1489364	p.Pro2586Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60861051C>T	NCI-TCGA Cosmic
rs1437286695	p.Lys2587Glu	missense variant	-	NC_000008.11:g.60861054A>G	gnomAD
rs1554606033	p.Asn2588Ser	missense variant	-	NC_000008.11:g.60861058A>G	-
RCV000537112	p.Asn2588Ser	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60861058A>G	ClinVar
NCI-TCGA novel	p.Asn2588IlePheSerTerUnk	frameshift	-	NC_000008.11:g.60861054A>-	NCI-TCGA
NCI-TCGA novel	p.Lys2589Asn	missense variant	-	NC_000008.11:g.60861062G>T	NCI-TCGA
rs1278990404	p.Asp2590Asn	missense variant	-	NC_000008.11:g.60861063G>A	gnomAD
rs1278990404	p.Asp2590His	missense variant	-	NC_000008.11:g.60861063G>C	gnomAD
rs754831330	p.Val2592Ala	missense variant	-	NC_000008.11:g.60861070T>C	ExAC,gnomAD
rs781080546	p.Glu2593Ala	missense variant	-	NC_000008.11:g.60861073A>C	ExAC,gnomAD
rs769587871	p.Trp2594Cys	missense variant	-	NC_000008.11:g.60861077G>T	ExAC,gnomAD
rs748126701	p.Trp2594Leu	missense variant	-	NC_000008.11:g.60861076G>T	ExAC,gnomAD
NCI-TCGA novel	p.Trp2594Ter	stop gained	-	NC_000008.11:g.60861077G>A	NCI-TCGA
rs1490400384	p.Leu2597Gln	missense variant	-	NC_000008.11:g.60861085T>A	gnomAD
NCI-TCGA novel	p.Leu2597Met	missense variant	-	NC_000008.11:g.60861084C>A	NCI-TCGA
NCI-TCGA novel	p.Pro2599AlaGlu	insertion	-	NC_000008.11:g.60861092_60861093insGCAGAA	NCI-TCGA
rs886040998	p.Tyr2601Ter	stop gained	-	NC_000008.11:g.60861097dup	-
RCV000258114	p.Tyr2601Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60861097dup	ClinVar
NCI-TCGA novel	p.Tyr2601Cys	missense variant	-	NC_000008.11:g.60861097A>G	NCI-TCGA
RCV000760800	p.Tyr2601Ter	nonsense	-	NC_000008.11:g.60861098C>A	ClinVar
rs775704728	p.Asp2604Tyr	missense variant	-	NC_000008.11:g.60861105G>T	ExAC,gnomAD
rs760837892	p.Met2605Thr	missense variant	-	NC_000008.11:g.60861109T>C	ExAC,TOPMed,gnomAD
rs760837892	p.Met2605Arg	missense variant	-	NC_000008.11:g.60861109T>G	ExAC,TOPMed,gnomAD
rs1424434796	p.Ser2607Gly	missense variant	-	NC_000008.11:g.60861114A>G	gnomAD
RCV000341981	p.Ser2607Ter	frameshift	-	NC_000008.11:g.60861115del	ClinVar
rs1385310821	p.Asn2612Ser	missense variant	-	NC_000008.11:g.60862200A>G	TOPMed
RCV000255120	p.Asp2614Ter	frameshift	-	NC_000008.11:g.60862205del	ClinVar
rs1202295047	p.Val2615Met	missense variant	-	NC_000008.11:g.60862208G>A	gnomAD
COSM6181203	p.Leu2616Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60862212T>G	NCI-TCGA Cosmic
rs565642773	p.Phe2617Leu	missense variant	-	NC_000008.11:g.60862214T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs375826047	p.Ser2619Pro	missense variant	-	NC_000008.11:g.60862220T>C	ESP,ExAC,TOPMed,gnomAD
rs1476487723	p.Gln2621Glu	missense variant	-	NC_000008.11:g.60862226C>G	gnomAD
rs752602502	p.Gln2621Arg	missense variant	-	NC_000008.11:g.60862227A>G	ExAC,gnomAD
rs1468230389	p.Pro2623Leu	missense variant	-	NC_000008.11:g.60862233C>T	gnomAD
RCV000853243	p.Arg2627Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60862244C>T	ClinVar
rs368302454	p.Arg2627Gln	missense variant	-	NC_000008.11:g.60862245G>A	ESP,gnomAD
RCV000482183	p.Arg2627Ter	nonsense	-	NC_000008.11:g.60862244C>T	ClinVar
rs1064793346	p.Arg2627Ter	stop gained	-	NC_000008.11:g.60862244C>T	-
rs777577551	p.His2628Arg	missense variant	-	NC_000008.11:g.60862248A>G	ExAC,gnomAD
RCV000317612	p.Arg2631Ter	nonsense	-	NC_000008.11:g.60862256C>T	ClinVar
rs1327851196	p.Arg2631Gln	missense variant	-	NC_000008.11:g.60862257G>A	TOPMed,gnomAD
rs587783457	p.Arg2631Ter	stop gained	-	NC_000008.11:g.60862256C>T	-
RCV000145696	p.Arg2631Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60862256C>T	ClinVar
COSM1457750	p.Asn2632His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60862259A>C	NCI-TCGA Cosmic
rs1385544270	p.Asn2634Asp	missense variant	-	NC_000008.11:g.60862265A>G	TOPMed
rs1012221437	p.Asn2634Ser	missense variant	-	NC_000008.11:g.60862266A>G	TOPMed
COSM6181201	p.Lys2635Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.60862268A>T	NCI-TCGA Cosmic
rs536569775	p.Thr2640Ala	missense variant	-	NC_000008.11:g.60862283A>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Thr2642Ile	missense variant	-	NC_000008.11:g.60862290C>T	NCI-TCGA
rs1282129968	p.Glu2644Lys	missense variant	-	NC_000008.11:g.60862295G>A	gnomAD
rs371857370	p.Arg2646Lys	missense variant	-	NC_000008.11:g.60862302G>A	ESP,ExAC,TOPMed,gnomAD
RCV000194957	p.Pro2648Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60862305_60862306dup	ClinVar
NCI-TCGA novel	p.Val2649Asp	missense variant	-	NC_000008.11:g.60862311T>A	NCI-TCGA
rs780161032	p.Asn2651Ser	missense variant	-	NC_000008.11:g.60862317A>G	ExAC,TOPMed,gnomAD
RCV000258143	p.Asn2651Ser	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60862317A>G	ClinVar
rs587783458	p.Arg2653Ter	stop gained	-	NC_000008.11:g.60862322C>T	-
rs747082615	p.Arg2653Gln	missense variant	-	NC_000008.11:g.60862323G>A	UniProt,dbSNP
VAR_068153	p.Arg2653Gln	missense variant	-	NC_000008.11:g.60862323G>A	UniProt
rs747082615	p.Arg2653Gln	missense variant	-	NC_000008.11:g.60862323G>A	ExAC,gnomAD
RCV000145697	p.Arg2653Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60862322C>T	ClinVar
RCV000578500	p.Arg2653Ter	nonsense	-	NC_000008.11:g.60862322C>T	ClinVar
rs768936388	p.Lys2657Arg	missense variant	-	NC_000008.11:g.60862335A>G	ExAC,gnomAD
rs1056534038	p.Met2658Val	missense variant	-	NC_000008.11:g.60862548A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Met2662Val	missense variant	-	NC_000008.11:g.60862560A>G	NCI-TCGA
rs1305494953	p.Ala2663Val	missense variant	-	NC_000008.11:g.60862564C>T	gnomAD
rs752315913	p.Pro2665Ala	missense variant	-	NC_000008.11:g.60862569C>G	ExAC,TOPMed,gnomAD
rs1420092626	p.Lys2667Gln	missense variant	-	NC_000008.11:g.60862575A>C	gnomAD
rs1363359466	p.Asp2668Glu	missense variant	-	NC_000008.11:g.60862580T>G	gnomAD
RCV000767865	p.Trp2672Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60862591G>A	ClinVar
RCV000599064	p.Glu2675Ter	nonsense	-	NC_000008.11:g.60862599G>T	ClinVar
rs1012252685	p.Glu2675Ala	missense variant	-	NC_000008.11:g.60862600A>C	TOPMed
rs748504264	p.Glu2675Ter	stop gained	-	NC_000008.11:g.60862599G>T	-
rs1293649174	p.Asn2676Ser	missense variant	-	NC_000008.11:g.60862603A>G	gnomAD
rs559053565	p.Glu2678Asp	missense variant	-	NC_000008.11:g.60862610A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1273425384	p.Glu2678Gln	missense variant	-	NC_000008.11:g.60862608G>C	gnomAD
rs757246925	p.Ala2680Ser	missense variant	-	NC_000008.11:g.60862614G>T	ExAC
rs201319489	p.Pro2683Ser	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60862623C>T	UniProt,dbSNP
VAR_068154	p.Pro2683Ser	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60862623C>T	UniProt
rs201319489	p.Pro2683Ser	missense variant	-	NC_000008.11:g.60862623C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000384139	p.Pro2683Ser	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60862623C>T	ClinVar
rs1179524910	p.Asp2684Glu	missense variant	-	NC_000008.11:g.60862628C>G	TOPMed
rs587783459	p.Trp2685Ter	stop gained	-	NC_000008.11:g.60862631G>A	-
RCV000145698	p.Trp2685Ter	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60862631G>A	ClinVar
rs1379672442	p.Trp2685Ter	stop gained	-	NC_000008.11:g.60862630G>A	gnomAD
rs755066542	p.Ile2688Arg	missense variant	-	NC_000008.11:g.60862639T>G	ExAC,gnomAD
rs755066542	p.Ile2688Thr	missense variant	-	NC_000008.11:g.60862639T>C	ExAC,gnomAD
RCV000391153	p.Ile2688Ter	frameshift	-	NC_000008.11:g.60862638dup	ClinVar
RCV000414784	p.Ile2688Arg	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60862639T>G	ClinVar
RCV000657564	p.Ile2688Ter	frameshift	-	NC_000008.11:g.60862637_60862638TA[1]	ClinVar
RCV000551048	p.Lys2690Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60862643del	ClinVar
RCV000686272	p.Gly2693Arg	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60865016G>C	ClinVar
rs1278912625	p.Gly2693Ala	missense variant	-	NC_000008.11:g.60865017G>C	TOPMed
RCV000659303	p.Pro2696Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60865026del	ClinVar
rs1225365013	p.Pro2696Ser	missense variant	-	NC_000008.11:g.60865025C>T	gnomAD
rs1005662057	p.Glu2697Ala	missense variant	-	NC_000008.11:g.60865029A>C	TOPMed
COSM3900884	p.Glu2697Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60865029A>G	NCI-TCGA Cosmic
rs1260054726	p.Ser2698Leu	missense variant	-	NC_000008.11:g.60865032C>T	TOPMed,gnomAD
COSM1489366	p.Met2699Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60865035T>A	NCI-TCGA Cosmic
rs1373315351	p.Arg2702Cys	missense variant	-	NC_000008.11:g.60865043C>T	TOPMed
RCV000733278	p.Arg2702His	missense variant	-	NC_000008.11:g.60865044G>A	ClinVar
rs1202955569	p.Leu2703Phe	missense variant	-	NC_000008.11:g.60865046C>T	gnomAD
rs1484121127	p.Val2708Ile	missense variant	-	NC_000008.11:g.60865061G>A	gnomAD
rs761604029	p.Val2708Ala	missense variant	-	NC_000008.11:g.60865062T>C	ExAC,gnomAD
COSM6181200	p.Arg2710Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60865068G>T	NCI-TCGA Cosmic
rs1418386669	p.Arg2710Trp	missense variant	-	NC_000008.11:g.60865067C>T	gnomAD
rs1426314940	p.Arg2710Pro	missense variant	-	NC_000008.11:g.60865068G>C	TOPMed,gnomAD
rs1426314940	p.Arg2710Gln	missense variant	-	NC_000008.11:g.60865068G>A	TOPMed,gnomAD
rs1418830724	p.Gly2711Arg	missense variant	-	NC_000008.11:g.60865070G>A	TOPMed,gnomAD
rs1418830724	p.Gly2711Arg	missense variant	-	NC_000008.11:g.60865070G>C	TOPMed,gnomAD
rs1423685412	p.Glu2712Lys	missense variant	-	NC_000008.11:g.60865073G>A	gnomAD
rs764956903	p.Gly2713Arg	missense variant	-	NC_000008.11:g.60865076G>A	ExAC,gnomAD
rs573554562	p.Ala2714Glu	missense variant	-	NC_000008.11:g.60865080C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs750380325	p.Ala2714Thr	missense variant	-	NC_000008.11:g.60865079G>A	ExAC,gnomAD
rs573554562	p.Ala2714Val	missense variant	-	NC_000008.11:g.60865080C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1303742795	p.Arg2720Thr	missense variant	-	NC_000008.11:g.60865098G>C	gnomAD
NCI-TCGA novel	p.Arg2720Met	missense variant	-	NC_000008.11:g.60865098G>T	NCI-TCGA
NCI-TCGA novel	p.Pro2721Leu	missense variant	-	NC_000008.11:g.60865101C>T	NCI-TCGA
rs752796467	p.Ser2723Gly	missense variant	-	NC_000008.11:g.60865106A>G	ExAC,TOPMed,gnomAD
rs756347672	p.Ser2723Asn	missense variant	-	NC_000008.11:g.60865107G>A	ExAC,TOPMed,gnomAD
rs756347672	p.Ser2723Thr	missense variant	-	NC_000008.11:g.60865107G>C	ExAC,TOPMed,gnomAD
rs749452262	p.Ala2726Thr	missense variant	-	NC_000008.11:g.60865115G>A	ExAC,gnomAD
rs1217616477	p.Arg2727Lys	missense variant	-	NC_000008.11:g.60865119G>A	TOPMed
rs779381935	p.Ala2730Val	missense variant	-	NC_000008.11:g.60865128C>T	ExAC,TOPMed,gnomAD
rs757707495	p.Ala2730Thr	missense variant	-	NC_000008.11:g.60865127G>A	ExAC,TOPMed,gnomAD
rs779381935	p.Ala2730Glu	missense variant	-	NC_000008.11:g.60865128C>A	ExAC,TOPMed,gnomAD
rs1210582890	p.Ala2731Gly	missense variant	-	NC_000008.11:g.60865131C>G	TOPMed,gnomAD
rs1210582890	p.Ala2731Val	missense variant	-	NC_000008.11:g.60865131C>T	TOPMed,gnomAD
rs370231679	p.Ala2733Thr	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60865136G>A	UniProt,dbSNP
VAR_068156	p.Ala2733Thr	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60865136G>A	UniProt
rs370231679	p.Ala2733Thr	missense variant	-	NC_000008.11:g.60865136G>A	ESP,ExAC,TOPMed,gnomAD
rs1263339156	p.Ala2736Thr	missense variant	-	NC_000008.11:g.60865145G>A	gnomAD
rs761409446	p.Thr2738Met	missense variant	-	NC_000008.11:g.60865152C>T	ExAC,TOPMed,gnomAD
RCV000321538	p.Thr2738Met	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60865152C>T	ClinVar
RCV000502071	p.Thr2738Met	missense variant	-	NC_000008.11:g.60865152C>T	ClinVar
RCV000282792	p.Thr2738Met	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60865152C>T	ClinVar
rs1416636387	p.Asn2742Ser	missense variant	-	NC_000008.11:g.60865164A>G	gnomAD
rs772957679	p.Asn2742His	missense variant	-	NC_000008.11:g.60865163A>C	ExAC,gnomAD
rs1418163912	p.Val2746Glu	missense variant	-	NC_000008.11:g.60865176T>A	gnomAD
rs762924490	p.Val2746Met	missense variant	-	NC_000008.11:g.60865175G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val2746Leu	missense variant	-	NC_000008.11:g.60865175G>T	NCI-TCGA
COSM1100907	p.Leu2749Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60865184C>A	NCI-TCGA Cosmic
rs1411850654	p.Leu2749Pro	missense variant	-	NC_000008.11:g.60865185T>C	TOPMed
RCV000634450	p.Phe2750Leu	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60865189T>G	ClinVar
rs3750308	p.Phe2750Leu	missense variant	-	NC_000008.11:g.60865189T>G	UniProt,dbSNP
VAR_033251	p.Phe2750Leu	missense variant	-	NC_000008.11:g.60865189T>G	UniProt
rs3750308	p.Phe2750Leu	missense variant	-	NC_000008.11:g.60865189T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs752785620	p.Ala2751Pro	missense variant	-	NC_000008.11:g.60865190G>C	ExAC,gnomAD
rs373124679	p.Gly2752Arg	missense variant	-	NC_000008.11:g.60865193G>A	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Gly2752Ter	stop gained	-	NC_000008.11:g.60865193G>T	NCI-TCGA
rs764021765	p.Met2753Thr	missense variant	-	NC_000008.11:g.60865197T>C	ExAC,gnomAD
rs764021765	p.Met2753Arg	missense variant	-	NC_000008.11:g.60865197T>G	ExAC,gnomAD
NCI-TCGA novel	p.Met2753Ile	missense variant	-	NC_000008.11:g.60865198G>T	NCI-TCGA
rs757521506	p.Thr2756Met	missense variant	-	NC_000008.11:g.60865206C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr2756Arg	missense variant	-	NC_000008.11:g.60865206C>G	NCI-TCGA
rs779470909	p.Ser2757Arg	missense variant	-	NC_000008.11:g.60865208A>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu2758Phe	missense variant	-	NC_000008.11:g.60865211C>T	NCI-TCGA
rs1469714222	p.Gln2759Pro	missense variant	-	NC_000008.11:g.60865215A>C	TOPMed
rs750806167	p.Gln2759His	missense variant	-	NC_000008.11:g.60865216G>C	ExAC,gnomAD
rs1218441285	p.Asn2760His	missense variant	-	NC_000008.11:g.60865217A>C	gnomAD
rs1273756434	p.Leu2761Val	missense variant	-	NC_000008.11:g.60865220C>G	TOPMed
rs758898311	p.Gln2762His	missense variant	-	NC_000008.11:g.60865225G>C	ExAC,gnomAD
rs1286287151	p.Gln2762Glu	missense variant	-	NC_000008.11:g.60865223C>G	gnomAD
rs375083875	p.Gln2765His	missense variant	-	NC_000008.11:g.60865234G>C	ESP,ExAC,gnomAD
rs375083875	p.Gln2765His	missense variant	-	NC_000008.11:g.60865234G>T	ESP,ExAC,gnomAD
rs1192272840	p.Leu2767Phe	missense variant	-	NC_000008.11:g.60865238C>T	gnomAD
rs768238208	p.Gln2768His	missense variant	-	NC_000008.11:g.60865243G>C	ExAC,TOPMed,gnomAD
rs369593429	p.Ala2770Thr	missense variant	-	NC_000008.11:g.60865247G>A	ESP,ExAC,TOPMed,gnomAD
rs372726062	p.Gly2771Asp	missense variant	-	NC_000008.11:g.60865251G>A	ESP
rs769262633	p.Leu2772Phe	missense variant	-	NC_000008.11:g.60865253C>T	gnomAD
rs1351681547	p.Met2773Val	missense variant	-	NC_000008.11:g.60865256A>G	TOPMed,gnomAD
rs1437179253	p.Gly2774Ser	missense variant	-	NC_000008.11:g.60865259G>A	gnomAD
RCV000634423	p.Pro2776Ser	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60865265C>T	ClinVar
rs1242086026	p.Pro2776Leu	missense variant	-	NC_000008.11:g.60865266C>T	gnomAD
rs773045619	p.Pro2776Ser	missense variant	-	NC_000008.11:g.60865265C>T	ExAC,gnomAD
rs762731699	p.Gly2778Val	missense variant	-	NC_000008.11:g.60865272G>T	ExAC,gnomAD
rs775132352	p.Ala2780Glu	missense variant	-	NC_000008.11:g.60865278C>A	ExAC,TOPMed,gnomAD
rs1219796819	p.Ala2780Thr	missense variant	-	NC_000008.11:g.60865277G>A	gnomAD
rs775132352	p.Ala2780Val	missense variant	-	NC_000008.11:g.60865278C>T	ExAC,TOPMed,gnomAD
rs1451693602	p.Thr2781Arg	missense variant	-	NC_000008.11:g.60865281C>G	gnomAD
rs1440876555	p.Ala2782Val	missense variant	-	NC_000008.11:g.60865284C>T	TOPMed
NCI-TCGA novel	p.Thr2784Ser	missense variant	-	NC_000008.11:g.60865289A>T	NCI-TCGA
rs935815422	p.Ala2785Thr	missense variant	-	NC_000008.11:g.60865292G>A	TOPMed,gnomAD
rs935815422	p.Ala2785Ser	missense variant	-	NC_000008.11:g.60865292G>T	TOPMed,gnomAD
RCV000202970	p.Gly2786Arg	missense variant	-	NC_000008.11:g.60865295G>A	ClinVar
RCV000782187	p.Gly2786Arg	missense variant	-	NC_000008.11:g.60865295G>A	ClinVar
rs765315726	p.Gly2786Arg	missense variant	-	NC_000008.11:g.60865295G>A	ExAC,TOPMed,gnomAD
rs541570788	p.Gly2787Ser	missense variant	-	NC_000008.11:g.60865298G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs373204105	p.Asp2788Asn	missense variant	-	NC_000008.11:g.60865301G>A	ESP,ExAC,gnomAD
RCV000177945	p.Ala2789Val	missense variant	-	NC_000008.11:g.60865305C>T	ClinVar
RCV000796515	p.Ala2789Val	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60865305C>T	ClinVar
rs376934539	p.Ala2789Val	missense variant	-	NC_000008.11:g.60865305C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs376934539	p.Ala2789Gly	missense variant	-	NC_000008.11:g.60865305C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200140270	p.Ala2789Thr	missense variant	-	NC_000008.11:g.60865304G>A	1000Genomes,ExAC,gnomAD
rs1204612063	p.Asn2791Ser	missense variant	-	NC_000008.11:g.60865311A>G	TOPMed
rs1448865643	p.Asn2791Tyr	missense variant	-	NC_000008.11:g.60865310A>T	gnomAD
rs774242976	p.Ala2793Gly	missense variant	-	NC_000008.11:g.60865317C>G	TOPMed,gnomAD
rs1331868976	p.Ala2793Thr	missense variant	-	NC_000008.11:g.60865316G>A	gnomAD
rs1272068831	p.Ala2794Val	missense variant	-	NC_000008.11:g.60865320C>T	TOPMed
rs780726083	p.Ala2794Ser	missense variant	-	NC_000008.11:g.60865319G>T	ExAC,gnomAD
rs553548797	p.Val2795Met	missense variant	-	NC_000008.11:g.60865322G>A	TOPMed,gnomAD
rs553548797	p.Val2795Leu	missense variant	-	NC_000008.11:g.60865322G>C	TOPMed,gnomAD
rs777405813	p.Pro2797His	missense variant	-	NC_000008.11:g.60865329C>A	ExAC,gnomAD
rs769500488	p.Pro2797Ser	missense variant	-	NC_000008.11:g.60865328C>T	ExAC,TOPMed,gnomAD
rs748833021	p.Leu2798Pro	missense variant	-	NC_000008.11:g.60865332T>C	ExAC,gnomAD
COSM1472102	p.Met2799Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60865336G>A	NCI-TCGA Cosmic
rs1239227862	p.Gly2802Glu	missense variant	-	NC_000008.11:g.60865344G>A	TOPMed,gnomAD
rs770781688	p.Ala2804Val	missense variant	-	NC_000008.11:g.60865350C>T	ExAC,gnomAD
rs759567393	p.Gly2805Ser	missense variant	-	NC_000008.11:g.60865352G>A	ExAC,gnomAD
rs45521933	p.Leu2806Val	missense variant	-	NC_000008.11:g.60865355C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs45521933	p.Leu2806Val	missense variant	-	NC_000008.11:g.60865355C>G	UniProt,dbSNP
VAR_068157	p.Leu2806Val	missense variant	-	NC_000008.11:g.60865355C>G	UniProt
RCV000590628	p.Leu2806Val	missense variant	-	NC_000008.11:g.60865355C>G	ClinVar
RCV000282690	p.Leu2806Val	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60865355C>G	ClinVar
RCV000716412	p.Leu2806Val	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60865355C>G	ClinVar
RCV000349365	p.Leu2806Val	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60865355C>G	ClinVar
rs1467174474	p.Pro2807Leu	missense variant	-	NC_000008.11:g.60865359C>T	gnomAD
rs773594482	p.Asn2808Lys	missense variant	-	NC_000008.11:g.60865363C>A	ExAC,TOPMed,gnomAD
rs368224943	p.Asn2808Ser	missense variant	-	NC_000008.11:g.60865362A>G	ESP,ExAC,TOPMed,gnomAD
rs763048936	p.Val2809Met	missense variant	-	NC_000008.11:g.60865364G>A	ExAC,TOPMed,gnomAD
rs763048936	p.Val2809Leu	missense variant	-	NC_000008.11:g.60865364G>C	ExAC,TOPMed,gnomAD
rs566554048	p.Phe2810Ile	missense variant	-	NC_000008.11:g.60865367T>A	1000Genomes,ExAC,gnomAD
rs751843206	p.Gly2811Ser	missense variant	-	NC_000008.11:g.60865370G>A	ExAC,gnomAD
rs755563758	p.Leu2812Phe	missense variant	-	NC_000008.11:g.60865375G>T	ExAC,gnomAD
rs1436868650	p.Gly2813Ser	missense variant	-	NC_000008.11:g.60865376G>A	TOPMed
rs768004023	p.Gly2813Val	missense variant	-	NC_000008.11:g.60865377G>T	ExAC,gnomAD
rs964405365	p.Gly2814Arg	missense variant	-	NC_000008.11:g.60865379G>A	TOPMed,gnomAD
COSM751033	p.Asn2817Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60865389A>T	NCI-TCGA Cosmic
COSM3367386	p.Asn2817Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60865389A>G	NCI-TCGA Cosmic
rs1261230568	p.Asn2818Lys	missense variant	-	NC_000008.11:g.60865393C>A	TOPMed,gnomAD
rs749000051	p.Asn2818Ser	missense variant	-	NC_000008.11:g.60865392A>G	ExAC,gnomAD
rs1261230568	p.Asn2818Lys	missense variant	-	NC_000008.11:g.60865393C>G	TOPMed,gnomAD
COSM3925443	p.Pro2819Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60865394C>T	NCI-TCGA Cosmic
RCV000258127	p.Leu2820Ter	frameshift	Kallmann syndrome 5 (KAL5)	NC_000008.11:g.60865395_60865396CT[1]	ClinVar
RCV000177948	p.Ala2822Ter	frameshift	-	NC_000008.11:g.60865392_60865402dup	ClinVar
rs1478846467	p.Thr2824Ala	missense variant	-	NC_000008.11:g.60865409A>G	gnomAD
rs756839375	p.Gly2825Val	missense variant	-	NC_000008.11:g.60865413G>T	ExAC,gnomAD
RCV000471269	p.Asn2826Ser	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60865416A>G	ClinVar
rs370129047	p.Asn2826Ser	missense variant	-	NC_000008.11:g.60865416A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1373512004	p.Thr2827Ala	missense variant	-	NC_000008.11:g.60865418A>G	gnomAD
RCV000390696	p.Ala2830Thr	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60865427G>A	ClinVar
RCV000314353	p.Ala2830Thr	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60865427G>A	ClinVar
rs533600930	p.Ala2830Thr	missense variant	-	NC_000008.11:g.60865427G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1399809223	p.Ser2831Cys	missense variant	-	NC_000008.11:g.60865431C>G	gnomAD
RCV000634412	p.Ser2831Cys	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60865431C>G	ClinVar
rs746897837	p.Ser2832Asn	missense variant	-	NC_000008.11:g.60865434G>A	ExAC,gnomAD
VAR_072969	p.Gln2833Pro	Missense	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]	-	UniProt
rs925177812	p.Pro2836Leu	missense variant	-	NC_000008.11:g.60865446C>T	TOPMed,gnomAD
rs773138428	p.Glu2837Lys	missense variant	-	NC_000008.11:g.60865448G>A	ExAC,gnomAD
rs1055076550	p.Ser2839Asn	missense variant	-	NC_000008.11:g.60865455G>A	gnomAD
NCI-TCGA novel	p.Ser2839Arg	missense variant	-	NC_000008.11:g.60865456C>G	NCI-TCGA
rs1231667845	p.Thr2840Pro	missense variant	-	NC_000008.11:g.60865457A>C	gnomAD
RCV000479418	p.Thr2840Ter	frameshift	-	NC_000008.11:g.60865457del	ClinVar
NCI-TCGA novel	p.Thr2840Ser	missense variant	-	NC_000008.11:g.60865458C>G	NCI-TCGA
rs763280915	p.Ser2841Ter	stop gained	-	NC_000008.11:g.60865461C>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser2841Pro	missense variant	-	NC_000008.11:g.60865460T>C	NCI-TCGA
COSM1100910	p.Glu2844Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60865471G>T	NCI-TCGA Cosmic
rs1346169205	p.Asn2848Lys	missense variant	-	NC_000008.11:g.60865483T>A	TOPMed,gnomAD
rs1346169205	p.Asn2848Lys	missense variant	-	NC_000008.11:g.60865483T>G	TOPMed,gnomAD
RCV000701495	p.Asn2850Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60865488_60865494del	ClinVar
rs1284184405	p.Asp2852Asn	missense variant	-	NC_000008.11:g.60865493G>A	gnomAD
rs759820854	p.Glu2853Gly	missense variant	-	NC_000008.11:g.60865497A>G	ExAC,gnomAD
rs774843956	p.Glu2853Lys	missense variant	-	NC_000008.11:g.60865496G>A	ExAC,TOPMed,gnomAD
rs1222693383	p.Asn2854Lys	missense variant	-	NC_000008.11:g.60865501C>G	gnomAD
NCI-TCGA novel	p.Asp2856Glu	missense variant	-	NC_000008.11:g.60865507C>A	NCI-TCGA
VAR_068158	p.Ser2857Ala	Missense	-	-	UniProt
NCI-TCGA novel	p.Ser2860LysPheSerTerUnk	frameshift	-	NC_000008.11:g.60865513_60865514insA	NCI-TCGA
rs1024233305	p.Asp2862Val	missense variant	-	NC_000008.11:g.60865524A>T	TOPMed
NCI-TCGA novel	p.Asp2862His	missense variant	-	NC_000008.11:g.60865523G>C	NCI-TCGA
rs970020036	p.Ala2863Asp	missense variant	-	NC_000008.11:g.60865527C>A	TOPMed,gnomAD
rs367756884	p.Val2864Leu	missense variant	-	NC_000008.11:g.60865529G>C	ESP,ExAC,TOPMed,gnomAD
rs367756884	p.Val2864Ile	missense variant	-	NC_000008.11:g.60865529G>A	ESP,ExAC,TOPMed,gnomAD
rs147534616	p.Ser2865Leu	missense variant	-	NC_000008.11:g.60865533C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778436403	p.Ser2869Pro	missense variant	-	NC_000008.11:g.60865544T>C	ExAC,TOPMed,gnomAD
rs745469585	p.Ala2870Val	missense variant	-	NC_000008.11:g.60865548C>T	ExAC,TOPMed,gnomAD
rs746986165	p.Val2874Phe	missense variant	-	NC_000008.11:g.60865559G>T	ExAC,gnomAD
COSM6113616	p.Gly2875Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60865562G>T	NCI-TCGA Cosmic
rs768688793	p.Gly2875Arg	missense variant	-	NC_000008.11:g.60865562G>C	ExAC,TOPMed,gnomAD
COSM1100916	p.Ala2876Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60865566C>A	NCI-TCGA Cosmic
rs1356174818	p.Ala2876Ser	missense variant	-	NC_000008.11:g.60865565G>T	gnomAD
rs773395000	p.Thr2878Ala	missense variant	-	NC_000008.11:g.60865571A>G	ExAC,TOPMed,gnomAD
rs113938624	p.Pro2880Leu	missense variant	-	NC_000008.11:g.60865578C>T	ESP,ExAC,TOPMed,gnomAD
rs113938624	p.Pro2880Leu	missense variant	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)	NC_000008.11:g.60865578C>T	UniProt,dbSNP
VAR_054626	p.Pro2880Leu	missense variant	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)	NC_000008.11:g.60865578C>T	UniProt
rs369476145	p.Pro2880Ser	missense variant	-	NC_000008.11:g.60865577C>T	ESP,ExAC,TOPMed,gnomAD
RCV000723791	p.Pro2880Leu	missense variant	-	NC_000008.11:g.60865578C>T	ClinVar
RCV000153029	p.Pro2880Leu	missense variant	-	NC_000008.11:g.60865578C>T	ClinVar
NCI-TCGA novel	p.Pro2880Thr	missense variant	-	NC_000008.11:g.60865577C>A	NCI-TCGA
rs912988587	p.Gly2882Arg	missense variant	-	NC_000008.11:g.60865583G>A	TOPMed,gnomAD
rs775800575	p.Pro2884Arg	missense variant	-	NC_000008.11:g.60865590C>G	ExAC,gnomAD
rs1163655041	p.Asn2886Asp	missense variant	-	NC_000008.11:g.60865595A>G	gnomAD
rs754307009	p.Pro2887Leu	missense variant	-	NC_000008.11:g.60865599C>T	ExAC,TOPMed,gnomAD
rs764758566	p.Leu2888Pro	missense variant	-	NC_000008.11:g.60865602T>C	ExAC,gnomAD
rs764758566	p.Leu2888Gln	missense variant	-	NC_000008.11:g.60865602T>A	ExAC,gnomAD
rs772828151	p.Ala2889Gly	missense variant	-	NC_000008.11:g.60865605C>G	TOPMed
RCV000321183	p.Asn2891Ser	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60865611A>G	ClinVar
RCV000767108	p.Asn2891Ser	missense variant	-	NC_000008.11:g.60865611A>G	ClinVar
RCV000177946	p.Asn2891Thr	missense variant	-	NC_000008.11:g.60865611A>C	ClinVar
rs202039728	p.Asn2891Ser	missense variant	-	NC_000008.11:g.60865611A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000273174	p.Asn2891Ser	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60865611A>G	ClinVar
rs202039728	p.Asn2891Thr	missense variant	-	NC_000008.11:g.60865611A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1446663182	p.Leu2894Phe	missense variant	-	NC_000008.11:g.60865619C>T	gnomAD
RCV000002117	p.Leu2895Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60865621_60865622insT	ClinVar
COSM70170	p.Ser2896Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60865625T>C	NCI-TCGA Cosmic
rs751382938	p.Thr2897Ala	missense variant	-	NC_000008.11:g.60865628A>G	ExAC,gnomAD
rs755028719	p.Met2898Val	missense variant	-	NC_000008.11:g.60865631A>G	ExAC,TOPMed,gnomAD
rs780993039	p.Pro2900Leu	missense variant	-	NC_000008.11:g.60865638C>T	ExAC,gnomAD
rs748057667	p.Phe2903Leu	missense variant	-	NC_000008.11:g.60865648C>A	ExAC,gnomAD
rs1266086793	p.Tyr2904Cys	missense variant	-	NC_000008.11:g.60865650A>G	gnomAD
COSM3650088	p.Ser2906Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60865656C>T	NCI-TCGA Cosmic
rs779009305	p.Pro2911Ser	missense variant	-	NC_000008.11:g.60865670C>T	ExAC,TOPMed,gnomAD
RCV000258123	p.Pro2911Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60865669_60865670del	ClinVar
rs779009305	p.Pro2911Thr	missense variant	-	NC_000008.11:g.60865670C>A	ExAC,TOPMed,gnomAD
rs187751757	p.Gly2914Arg	missense variant	-	NC_000008.11:g.60865679G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs187751757	p.Gly2914Arg	missense variant	-	NC_000008.11:g.60865679G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000359572	p.Gly2914Arg	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60865679G>A	ClinVar
RCV000612659	p.Gly2914Arg	missense variant	-	NC_000008.11:g.60865679G>A	ClinVar
RCV000719027	p.Gly2914Arg	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60865679G>A	ClinVar
RCV000267205	p.Gly2914Arg	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60865679G>A	ClinVar
NCI-TCGA novel	p.Gly2914Val	missense variant	-	NC_000008.11:g.60865680G>T	NCI-TCGA
rs775900929	p.Gly2915Val	missense variant	-	NC_000008.11:g.60865683G>T	ExAC,gnomAD
rs775900929	p.Gly2915Glu	missense variant	-	NC_000008.11:g.60865683G>A	ExAC,gnomAD
RCV000659304	p.Leu2916Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60865683dup	ClinVar
rs990589419	p.Thr2917Arg	missense variant	-	NC_000008.11:g.60865689C>G	TOPMed,gnomAD
rs990589419	p.Thr2917Met	missense variant	-	NC_000008.11:g.60865689C>T	TOPMed,gnomAD
rs769008751	p.Gly2920Ala	missense variant	-	NC_000008.11:g.60865698G>C	ExAC,TOPMed,gnomAD
rs1264986011	p.Phe2921Leu	missense variant	-	NC_000008.11:g.60865702C>G	TOPMed
rs1242867481	p.Ala2923Thr	missense variant	-	NC_000008.11:g.60865706G>A	TOPMed
rs762344310	p.Ala2925Thr	missense variant	-	NC_000008.11:g.60865712G>A	ExAC,TOPMed,gnomAD
RCV000704841	p.Ala2925Val	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60865713C>T	ClinVar
rs749935456	p.Gln2928Arg	missense variant	-	NC_000008.11:g.60865722A>G	ExAC,gnomAD
COSM1100919	p.Ala2930Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60865728C>T	NCI-TCGA Cosmic
rs754831415	p.Val2931Ala	missense variant	-	NC_000008.11:g.60865731T>C	ExAC,gnomAD
rs370271088	p.Val2931Met	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60865730G>A	UniProt,dbSNP
VAR_068159	p.Val2931Met	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60865730G>A	UniProt
rs370271088	p.Val2931Met	missense variant	-	NC_000008.11:g.60865730G>A	ESP,ExAC,TOPMed,gnomAD
rs374344463	p.Ser2933Cys	missense variant	-	NC_000008.11:g.60865737C>G	ESP,ExAC,TOPMed,gnomAD
rs374344463	p.Ser2933Phe	missense variant	-	NC_000008.11:g.60865737C>T	ESP,ExAC,TOPMed,gnomAD
rs778908675	p.Ser2934Arg	missense variant	-	NC_000008.11:g.60865741C>G	ExAC,TOPMed,gnomAD
rs1024326558	p.Ser2934Cys	missense variant	-	NC_000008.11:g.60865739A>T	TOPMed
rs745944842	p.Glu2935Lys	missense variant	-	NC_000008.11:g.60865742G>A	ExAC,gnomAD
rs538431512	p.Glu2936Gly	missense variant	-	NC_000008.11:g.60865746A>G	1000Genomes,ExAC,gnomAD
rs1182074974	p.Lys2937Gln	missense variant	-	NC_000008.11:g.60865748A>C	gnomAD
RCV000825897	p.Lys2941Glu	missense variant	-	NC_000008.11:g.60865760A>G	ClinVar
RCV000177949	p.Lys2941Glu	missense variant	-	NC_000008.11:g.60865760A>G	ClinVar
rs1476556109	p.Lys2941Arg	missense variant	-	NC_000008.11:g.60865761A>G	gnomAD
rs201793562	p.Lys2941Glu	missense variant	-	NC_000008.11:g.60865760A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1426433349	p.Gly2944Ala	missense variant	-	NC_000008.11:g.60865770G>C	gnomAD
rs1410995937	p.Pro2946Ser	missense variant	-	NC_000008.11:g.60865775C>T	gnomAD
rs768935496	p.Pro2946Arg	missense variant	-	NC_000008.11:g.60865776C>G	ExAC,TOPMed,gnomAD
rs1452398427	p.Phe2947Leu	missense variant	-	NC_000008.11:g.60865778T>C	gnomAD
rs1467824778	p.Lys2948Glu	missense variant	-	NC_000008.11:g.60865781A>G	gnomAD
rs1467824778	p.Lys2948Glu	missense variant	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)	NC_000008.11:g.60865781A>G	UniProt,dbSNP
VAR_054627	p.Lys2948Glu	missense variant	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)	NC_000008.11:g.60865781A>G	UniProt
rs1340075901	p.Glu2951Ala	missense variant	-	NC_000008.11:g.60865791A>C	gnomAD
rs748655442	p.Thr2952Ser	missense variant	-	NC_000008.11:g.60865794C>G	ExAC,gnomAD
RCV000323991	p.Thr2952Ser	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60865794C>G	ClinVar
rs1398254316	p.Thr2952Ala	missense variant	-	NC_000008.11:g.60865793A>G	gnomAD
RCV000371687	p.Thr2952Ser	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60865794C>G	ClinVar
rs1001934196	p.Gly2955Val	missense variant	-	NC_000008.11:g.60865803G>T	TOPMed
rs762553908	p.Asp2957Asn	missense variant	-	NC_000008.11:g.60865808G>A	ExAC,TOPMed,gnomAD
rs774166245	p.Glu2959Lys	missense variant	-	NC_000008.11:g.60865814G>A	ExAC,gnomAD
rs370914258	p.Glu2960Gly	missense variant	-	NC_000008.11:g.60865818A>G	ESP,ExAC,gnomAD
rs1047837258	p.Asp2963Asn	missense variant	-	NC_000008.11:g.60865826G>A	gnomAD
rs1047837258	p.Asp2963Tyr	missense variant	-	NC_000008.11:g.60865826G>T	gnomAD
rs1263237815	p.Lys2964Met	missense variant	-	NC_000008.11:g.60865830A>T	gnomAD
NCI-TCGA novel	p.Lys2964Arg	missense variant	-	NC_000008.11:g.60865830A>G	NCI-TCGA
rs1191108445	p.Ala2966Thr	missense variant	-	NC_000008.11:g.60865835G>A	gnomAD
rs1339771910	p.Ala2966Val	missense variant	-	NC_000008.11:g.60865836C>T	TOPMed
COSM3925444	p.Leu2970Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60865847C>T	NCI-TCGA Cosmic
rs1409024274	p.Leu2970His	missense variant	-	NC_000008.11:g.60865848T>A	gnomAD
rs1435312516	p.Leu2971Ser	missense variant	-	NC_000008.11:g.60865851T>C	gnomAD
rs756064672	p.Glu2974Lys	missense variant	-	NC_000008.11:g.60865859G>A	ExAC,TOPMed,gnomAD
rs1418064964	p.Ile2975Thr	missense variant	-	NC_000008.11:g.60865863T>C	gnomAD
rs1320946658	p.Gly2978Ser	missense variant	-	NC_000008.11:g.60865871G>A	TOPMed
rs1320946658	p.Gly2978Cys	missense variant	-	NC_000008.11:g.60865871G>T	TOPMed
rs1392645019	p.Gly2978Val	missense variant	-	NC_000008.11:g.60865872G>T	TOPMed
RCV000623006	p.Gly2978Ser	missense variant	Inborn genetic diseases	NC_000008.11:g.60865871G>A	ClinVar
rs764024077	p.Ser2983Leu	missense variant	-	NC_000008.11:g.60865887C>T	ExAC,gnomAD
RCV000081862	p.Leu2984Phe	missense variant	-	NC_000008.11:g.60865889C>T	ClinVar
RCV000514783	p.Leu2984Phe	missense variant	-	NC_000008.11:g.60865889C>T	ClinVar
rs184814820	p.Leu2984Phe	missense variant	-	NC_000008.11:g.60865889C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs184814820	p.Leu2984Phe	missense variant	-	NC_000008.11:g.60865889C>T	UniProt,dbSNP
VAR_068160	p.Leu2984Phe	missense variant	-	NC_000008.11:g.60865889C>T	UniProt
RCV000718499	p.Leu2984Phe	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60865889C>T	ClinVar
rs1308226776	p.Asp2985Gly	missense variant	-	NC_000008.11:g.60865893A>G	TOPMed,gnomAD
RCV000717570	p.Asp2985Gly	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60865893A>G	ClinVar
rs374004489	p.Gly2986Val	missense variant	-	NC_000008.11:g.60865896G>T	ESP,TOPMed
rs1351104278	p.Gly2986Arg	missense variant	-	NC_000008.11:g.60865895G>C	gnomAD
rs374004489	p.Gly2986Ala	missense variant	-	NC_000008.11:g.60865896G>C	ESP,TOPMed
rs374004489	p.Gly2986Glu	missense variant	-	NC_000008.11:g.60865896G>A	ESP,TOPMed
rs1351104278	p.Gly2986Trp	missense variant	-	NC_000008.11:g.60865895G>T	gnomAD
rs758498085	p.Gly2987Arg	missense variant	-	NC_000008.11:g.60865898G>A	ExAC,gnomAD
rs780071510	p.Gly2987Glu	missense variant	-	NC_000008.11:g.60865899G>A	ExAC,gnomAD
COSM1457755	p.Asp2988MetPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.60865895G>-	NCI-TCGA Cosmic
rs1175995804	p.Asp2988Glu	missense variant	-	NC_000008.11:g.60865903T>A	TOPMed
RCV000258093	p.Asp2988Ter	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60865901dup	ClinVar
NCI-TCGA novel	p.Asp2988GlyPheSerTerUnk	frameshift	-	NC_000008.11:g.60865894_60865895insGG	NCI-TCGA
rs771806027	p.Asp2988GlyPheSerTerUnk	frameshift	-	NC_000008.11:g.60865894_60865895insG	NCI-TCGA,NCI-TCGA Cosmic
rs1370861302	p.Glu2989Asp	missense variant	-	NC_000008.11:g.60865906A>T	gnomAD
rs1455036121	p.Glu2989Lys	missense variant	-	NC_000008.11:g.60865904G>A	TOPMed
rs900764655	p.Ile2990Thr	missense variant	-	NC_000008.11:g.60865908T>C	gnomAD
rs900764655	p.Ile2990Lys	missense variant	-	NC_000008.11:g.60865908T>A	gnomAD
rs1245508487	p.Glu2991Gly	missense variant	-	NC_000008.11:g.60865911A>G	gnomAD
NCI-TCGA novel	p.Glu2991Lys	missense variant	-	NC_000008.11:g.60865910G>A	NCI-TCGA
rs1194698970	p.Asn2993Asp	missense variant	-	NC_000008.11:g.60865916A>G	gnomAD
rs747274787	p.Glu2994Asp	missense variant	-	NC_000008.11:g.60865921A>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu2994Lys	missense variant	-	NC_000008.11:g.60865919G>A	NCI-TCGA

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0000846	Agenesis	disease	BEFREE
C0002170	Alopecia	disease	HPO
C0002893	Refractory anemias	disease	BEFREE
C0003119	Anophthalmos	disease	BEFREE;HPO
C0003126	Anosmia	phenotype	BEFREE;HPO
C0003467	Anxiety	disease	HPO
C0003873	Rheumatoid Arthritis	disease	BEFREE
C0004352	Autistic Disorder	group	BEFREE;HPO
C0005745	Blepharoptosis	disease	HPO
C0006826	Malignant Neoplasms	group	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0008073	Developmental Disabilities	group	BEFREE
C0008297	Choanal Atresia	disease	BEFREE;CLINVAR;GENOMICS_ENGLAND;HPO
C0008626	Congenital chromosomal disease	group	BEFREE
C0008924	Cleft upper lip	disease	HPO
C0008925	Cleft Palate	disease	BEFREE
C0009363	Congenital ocular coloboma (disorder)	disease	BEFREE;GENOMICS_ENGLAND;HPO;LHGDN
C0009402	Colorectal Carcinoma	disease	BEFREE
C0010278	Craniosynostosis	disease	BEFREE
C0010308	Congenital Hypothyroidism	disease	BEFREE
C0010417	Cryptorchidism	disease	BEFREE;HPO
C0011053	Deafness	phenotype	HPO
C0011168	Deglutition Disorders	group	HPO
C0011581	Depressive disorder	disease	HPO
C0011606	Exfoliative dermatitis	disease	HPO
C0012236	DiGeorge Syndrome	disease	BEFREE
C0013069	Double Outlet Right Ventricle	disease	HPO
C0013274	Patent ductus arteriosus	disease	HPO
C0013604	Edema	phenotype	HPO
C0014457	Eosinophilia	disease	HPO
C0014850	Esophageal Atresia	disease	BEFREE;HPO
C0015967	Fever	phenotype	HPO
C0017168	Gastroesophageal reflux disease	disease	HPO
C0018418	Gynecomastia	disease	HPO
C0018772	Hearing Loss, Partial	phenotype	HPO
C0018784	Sensorineural Hearing Loss (disorder)	disease	HPO
C0018798	Congenital Heart Defects	group	BEFREE
C0018799	Heart Diseases	group	LHGDN
C0018816	Heart Septal Defects	group	BEFREE;HPO
C0018817	Atrial Septal Defects	group	CLINVAR;HPO
C0018818	Ventricular Septal Defects	group	HPO
C0018834	Heartburn	phenotype	HPO
C0019209	Hepatomegaly	phenotype	HPO
C0019322	Umbilical hernia	phenotype	HPO
C0020224	Polyhydramnios	phenotype	HPO
C0020295	Hydronephrosis	disease	HPO
C0020598	Hypocalcemia	phenotype	HPO
C0020619	Hypogonadism	disease	LHGDN
C0020635	Hypopituitarism	disease	BEFREE
C0020676	Hypothyroidism	disease	BEFREE;CLINVAR;HPO
C0022735	Klinefelter Syndrome	disease	BEFREE
C0023508	White Blood Cell Count procedure	phenotype	GWASCAT
C0024312	Lymphopenia	disease	BEFREE;HPO
C0025362	Mental Retardation	disease	BEFREE;HPO
C0026010	Microphthalmos	disease	HPO
C0026034	Microstomia	disease	HPO
C0026827	Muscle hypotonia	phenotype	HPO
C0026848	Myopathy	group	BEFREE
C0027092	Myopia	disease	CLINVAR
C0028738	Nystagmus	disease	HPO
C0028768	Obsessive-Compulsive Disorder	disease	HPO
C0029124	Optic Atrophy	disease	HPO
C0029453	Osteopenia	disease	HPO
C0029456	Osteoporosis	disease	HPO
C0032285	Pneumonia	disease	HPO
C0033578	Prostatic Neoplasms	group	CTD_human
C0033774	Pruritus	phenotype	HPO
C0034012	Delayed Puberty	phenotype	HPO
C0034194	Pyloric Stenosis	phenotype	CLINVAR
C0036439	Scoliosis, unspecified	phenotype	LHGDN
C0036857	Severe mental retardation (I.Q. 20-34)	disease	BEFREE
C0036875	Disorders of Sex Development	group	GENOMICS_ENGLAND
C0037932	Curvature of spine	phenotype	CLINVAR
C0038002	Splenomegaly	phenotype	HPO
C0038379	Strabismus	disease	HPO
C0039685	Tetralogy of Fallot	disease	HPO
C0040588	Tracheoesophageal Fistula	phenotype	HPO
C0042580	Vesico-Ureteral Reflux	disease	BEFREE
C0085110	Severe Combined Immunodeficiency	disease	BEFREE;HPO;LHGDN
C0151721	Testicular hypogonadism	disease	HPO
C0151908	Dry skin	phenotype	HPO
C0152419	Interrupted aortic arch	disease	HPO
C0158646	Cleft palate with cleft lip	disease	BEFREE
C0162809	Kallmann Syndrome	disease	BEFREE;CTD_human;LHGDN;ORPHANET
C0200633	Neutrophil count (procedure)	phenotype	GWASCAT
C0200638	Eosinophil count procedure	phenotype	GWASCAT
C0200641	Blood basophil count (lab test)	phenotype	GWASCAT
C0220692	Maxillonasal dysplasia, Binder type	disease	BEFREE
C0220723	CHOANAL ATRESIA, POSTERIOR	phenotype	HPO
C0220748	Cartilage-hair hypoplasia	disease	BEFREE
C0220810	Congenital defects	group	BEFREE
C0221353	Horseshoe Kidney	disease	HPO
C0221358	Long narrow head	phenotype	CLINVAR
C0231246	Failure to gain weight	phenotype	HPO
C0232466	Feeding difficulties	phenotype	HPO
C0232939	Primary physiologic amenorrhea	disease	HPO
C0232940	Secondary physiologic amenorrhea	disease	HPO
C0234362	Synkinesis	phenotype	BEFREE
C0235974	Pancreatic carcinoma	disease	BEFREE
C0239174	Late tooth eruption	phenotype	HPO
C0240063	Coloboma of iris	phenotype	BEFREE;HPO
C0240896	Fundus coloboma	disease	HPO
C0241165	Thick skin	phenotype	HPO
C0241355	Small testicle	phenotype	HPO
C0242350	Erectile dysfunction	disease	HPO
C0242387	Mandibulofacial Dysostosis	disease	BEFREE
C0243066	Atresia	disease	BEFREE
C0259817	Xerosis	disease	HPO
C0265240	Goldenhar Syndrome	disease	BEFREE
C0265354	CHARGE Syndrome	disease	BEFREE;CLINGEN;CLINVAR;CTD_human;MGD;ORPHANET;UNIPROT
C0266013	Congenital hypoplasia of breast	disease	HPO
C0266174	Duodenal atresia	disease	HPO
C0266399	Infantile uterus	disease	HPO
C0266435	Congenital hypoplasia of penis	disease	BEFREE;HPO
C0266551	Congenital coloboma of iris	disease	BEFREE
C0266589	Congenital ear anomaly NOS (disorder)	group	BEFREE;HPO
C0266692	Craniopagus	disease	BEFREE
C0268000	Body fluid retention	phenotype	HPO
C0270960	Congenital myopathy (disorder)	group	BEFREE
C0270984	Metabolic myopathy	group	BEFREE
C0271441	Chronic otitis media	disease	BEFREE
C0271578	Female hypogonadism syndrome	disease	HPO
C0271623	Hypogonadotropic hypogonadism	disease	BEFREE;HPO
C0338503	Septo-Optic Dysplasia	disease	BEFREE
C0339789	Congenital deafness	disease	HPO
C0341787	Bifid scrotum	disease	HPO
C0342384	Idiopathic hypogonadotropic hypogonadism	disease	BEFREE;GENOMICS_ENGLAND
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0349588	Short stature	phenotype	HPO
C0376175	Bell Palsy	disease	BEFREE;HPO
C0376358	Malignant neoplasm of prostate	disease	CTD_human
C0376634	Craniofacial Abnormalities	group	BEFREE
C0401151	Chronic diarrhea	disease	HPO
C0410207	Tubular Aggregate Myopathy	disease	BEFREE
C0423110	Downward slant of palpebral fissure	phenotype	HPO
C0423903	Low intelligence	phenotype	HPO
C0424503	Dysmorphic facies	phenotype	CLINVAR
C0427055	Facial Paresis	phenotype	HPO
C0432106	Midline facial cleft - Tessier cleft 0	disease	BEFREE
C0497156	Lymphadenopathy	group	HPO
C0520927	Decreased fertility	phenotype	HPO
C0541764	Delayed bone age	phenotype	HPO
C0546952	Congenital facial asymmetry	disease	BEFREE
C0557874	Global developmental delay	disease	HPO
C0563243	Poor coordination	phenotype	CLINVAR
C0595995	Idiopathic scoliosis	phenotype	BEFREE
C0600104	Obsessive compulsive behavior	disease	HPO
C0685787	Cleft face	disease	BEFREE
C0685840	Congenital hypoplasia of ovary	disease	HPO
C0699790	Colon Carcinoma	disease	BEFREE
C0741916	Cardiac defects	group	BEFREE
C0747078	Generalized osteopenia	disease	HPO
C0750879	Eosinophil count result	phenotype	GWASCAT
C0751882	Myasthenic Syndromes, Congenital	disease	BEFREE
C0857490	Granulocyte count	phenotype	GWASCAT
C0917816	Mental deficiency	disease	HPO
C0950123	Genetic Diseases, Inborn	group	CLINVAR
C1263846	Attention deficit hyperactivity disorder	disease	HPO
C1302790	Congenital malformation syndrome	group	BEFREE
C1306710	Facial asymmetry	phenotype	HPO;LHGDN
C1335302	Pancreatic Ductal Adenocarcinoma	disease	BEFREE
C1384666	hearing impairment	phenotype	HPO
C1389851	Parathyroid hypoplasia	disease	HPO
C1510586	Autism Spectrum Disorders	disease	BEFREE
C1535926	Neurodevelopmental Disorders	group	BEFREE
C1563719	Kallmann Syndrome 1	disease	CTD_human
C1563720	Kallmann Syndrome 2 (disorder)	disease	CTD_human
C1705254	Neonatal Deformity	disease	BEFREE
C1827524	Wide spaced nipples	phenotype	HPO
C1832127	Square face	phenotype	HPO
C1835452	Hypoplastic ovary	phenotype	HPO
C1836542	Depressed nasal bridge	phenotype	HPO
C1837218	Cleft palate, isolated	disease	BEFREE
C1837463	Narrow face	phenotype	HPO
C1837731	Overfolded helix	phenotype	HPO
C1842138	Progressive hearing impairment	phenotype	CLINVAR
C1842714	Desquamation of skin soon after birth	phenotype	HPO
C1843367	Poor school performance	phenotype	HPO
C1846228	Absence of pubertal development	phenotype	HPO
C1846460	Abnormality of the outer ear	phenotype	HPO
C1848765	Sparse/absent eyebrows	phenotype	HPO
C1849121	Thin face	phenotype	HPO
C1850325	Labial hypoplasia	phenotype	HPO
C1851119	Dilatation of the aortic arch	phenotype	HPO
C1851792	Aplasia/Hypoplasia of the earlobes	disease	HPO
C1853238	Conotruncal defect	disease	BEFREE
C1857486	Low-set, posteriorly rotated ears	phenotype	HPO
C1858085	Malar flattening	phenotype	HPO
C1858719	Facial muscle weakness of muscles innervated by CN VII	phenotype	HPO
C1859778	Postnatal growth retardation	phenotype	HPO
C1860121	Decreased testosterone in males	phenotype	HPO
C1861028	Esophageal atresia with or without tracheoesophageal fistula	disease	CTD_human
C1862863	Sparse body hair	phenotype	HPO
C1864897	Cognitive delay	phenotype	HPO
C1876203	Frontonasal dysplasia	disease	BEFREE
C1956257	Pulmonary Stenosis	disease	HPO
C1968949	Cakut	disease	GENOMICS_ENGLAND
C2266639	Absence of eyebrow	phenotype	HPO
C2315100	Pediatric failure to thrive	disease	HPO
C2364082	Sense of smell impaired	phenotype	BEFREE;HPO
C2674432	Reduced bone mineral density	phenotype	HPO
C2674608	Feeding difficulties in infancy	phenotype	HPO
C2675302	KALLMANN SYNDROME 5 (disorder)	disease	CLINVAR
C2678065	Myofibrillar Myopathy	disease	BEFREE
C2700553	Omenn Syndrome	disease	BEFREE;ORPHANET
C2930927	Kallmann syndrome, type 3, recessive	disease	CTD_human
C2936502	Familial CHARGE Syndrome	disease	CLINGEN;CTD_human;MGD
C2981150	Uranostaphyloschisis	disease	BEFREE;HPO
C3164271	Obstruction of aortic arch	disease	HPO
C3164445	Abnormality of aortic valve	phenotype	HPO
C3278004	Thymic hypoplasia or aplasia	phenotype	HPO
C3489396	Hypogonadism, Isolated Hypogonadotropic	disease	HPO
C3495417	Hemifacial microsomia	disease	BEFREE
C3550546	Depressed nasal root/bridge	phenotype	HPO
C3551430	Sparse or absent eyebrows	phenotype	HPO
C3552136	HYPOGONADOTROPHIC HYPOGONADISM 5 WITHOUT ANOSMIA	phenotype	CLINVAR
C3552156	Hypoplasia of the semicircular canal	phenotype	HPO
C3552553	HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA	disease	UNIPROT
C3714756	Intellectual Disability	group	BEFREE;GENOMICS_ENGLAND;HPO
C3899503	Congenital hypogonadotropic hypogonadism	disease	BEFREE
C4020875	Mental and motor retardation	phenotype	HPO
C4020876	Dull intelligence	phenotype	HPO
C4020878	Diffusely thickened skin	phenotype	HPO
C4020884	Anxiety disease	disease	HPO
C4021107	Non-obstructive azoospermia	disease	HPO
C4021551	Absence of secondary sex characteristics	phenotype	HPO
C4021776	Abnormality of the voice	phenotype	HPO
C4021956	Aplasia/Hypoplasia of the eyebrow	phenotype	HPO
C4021984	Abnormality of the soft palate	phenotype	HPO
C4022003	Erectile abnormalities	phenotype	HPO
C4022675	Increased female libido	phenotype	HPO
C4023796	Aplasia/Hypoplasia of the thymus	phenotype	HPO
C4025569	Eunuchoid habitus	phenotype	HPO
C4025644	Hypothalamic gonadotropin-releasing hormone deficiency	phenotype	HPO
C4025821	Anterior hypopituitarism	disease	HPO
C4025900	Abnormality of female internal genitalia	phenotype	HPO
C4025901	Abnormality of body height	phenotype	HPO
C4280495	Concave bridge of nose	phenotype	HPO
C4280625	Decreased size of eyeball	phenotype	HPO
C4280651	Hypotrophic malar bone	phenotype	HPO
C4280808	Abnormally small eyeball	phenotype	HPO
C4317146	Acid reflux	phenotype	HPO
C4317152	Dimple chin	phenotype	HPO
C4321245	Cleft lip or lips	phenotype	HPO
C4531021	Undergrowth	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0003678	DNA helicase activity	IEA
GO:0003682	chromatin binding	TAS
GO:0005515	protein binding	IPI
GO:0005524	ATP binding	IEA
GO:1990841	promoter-specific chromatin binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001501	skeletal system development	IMP
GO:0001701	in utero embryonic development	IMP
GO:0001974	blood vessel remodeling	IEA
GO:0003007	heart morphogenesis	IMP
GO:0003222	ventricular trabecula myocardium morphogenesis	IEA
GO:0003226	right ventricular compact myocardium morphogenesis	IEA
GO:0006338	chromatin remodeling	IEA
GO:0006355	regulation of transcription, DNA-templated	NAS
GO:0006364	rRNA processing	IEA
GO:0007417	central nervous system development	IMP
GO:0007512	adult heart development	IEA
GO:0007605	sensory perception of sound	IEA
GO:0007628	adult walking behavior	IEA
GO:0008015	blood circulation	IEA
GO:0009617	response to bacterium	IEA
GO:0010880	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IEA
GO:0021545	cranial nerve development	IMP
GO:0021553	olfactory nerve development	IEA
GO:0021772	olfactory bulb development	IEA
GO:0030217	T cell differentiation	IMP
GO:0030540	female genitalia development	IEA
GO:0032508	DNA duplex unwinding	IEA
GO:0035116	embryonic hindlimb morphogenesis	IEA
GO:0035909	aorta morphogenesis	IEA
GO:0036302	atrioventricular canal development	IEA
GO:0040018	positive regulation of multicellular organism growth	IEA
GO:0042048	olfactory behavior	IEA
GO:0042472	inner ear morphogenesis	IMP
GO:0043584	nose development	IMP
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA
GO:0048752	semicircular canal morphogenesis	IEA
GO:0048806	genitalia development	IMP
GO:0050767	regulation of neurogenesis	IEA
GO:0050890	cognition	IMP
GO:0060041	retina development in camera-type eye	IMP
GO:0060123	regulation of growth hormone secretion	IMP
GO:0060173	limb development	IMP
GO:0060324	face development	IMP
GO:0060384	innervation	IEA
GO:0060411	cardiac septum morphogenesis	IEA
GO:0060429	epithelium development	IEA
GO:0062009	secondary palate development	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	TAS
GO:0005634	nucleus	IDA
GO:0005654	nucleoplasm	IDA
GO:0005730	nucleolus	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of CHD7 mRNA	21346803
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of CHD7 mRNA	19150397
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in increased expression of CHD7 mRNA	26238291
C496492	abrine	abrine results in decreased expression of CHD7 mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in decreased expression of CHD7 mRNA	21420995
D020106	Acrylamide	Acrylamide results in decreased expression of CHD7 mRNA	30807115
D001280	Atrazine	Atrazine affects the expression of CHD7 mRNA	25929836
C547126	AZM551248	AZM551248 results in decreased expression of CHD7 mRNA	22323515
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of CHD7 mRNA	20064835
C006780	bisphenol A	bisphenol A results in decreased expression of CHD7 mRNA	30816183
D019256	Cadmium Chloride	Cadmium Chloride results in decreased methylation of CHD7 promoter	22457795
D002922	Ciguatoxins	Ciguatoxins affects the expression of CHD7 mRNA	18353800
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of CHD7 mRNA	27392435
D002945	Cisplatin	Cisplatin results in decreased expression of CHD7 mRNA	27594783
D002990	Clobetasol	Clobetasol results in decreased expression of CHD7 mRNA	27462272
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of CHD7 mRNA	19789285
D019327	Copper Sulfate	Copper Sulfate results in increased expression of CHD7 mRNA	19789285
D000077209	Decitabine	Decitabine results in increased expression of CHD7 mRNA	27915011
D003907	Dexamethasone	Dexamethasone results in increased expression of CHD7 mRNA	22733784
C000944	dicrotophos	dicrotophos results in increased expression of CHD7 mRNA	28302478
D013196	Dihydrotestosterone	Dihydrotestosterone results in increased expression of CHD7 mRNA	29581250
D004317	Doxorubicin	Doxorubicin results in decreased expression of CHD7 mRNA	29803840
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of CHD7 mRNA	22079256
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of CHD7 mRNA	23129252
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in decreased expression of CHD7 mRNA	23649840
D005557	Formaldehyde	Formaldehyde results in decreased expression of CHD7 mRNA	20655997
C039281	furan	furan results in increased methylation of CHD7 gene	22079235
D005947	Glucose	[INS protein co-treated with Glucose] results in increased expression of CHD7 mRNA	22634610
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of CHD7 mRNA	27392435
D007854	Lead	Lead affects the expression of CHD7 mRNA	28903495
D007854	Lead	Lead results in decreased expression of CHD7 mRNA	19921347
C008261	lead acetate	[lead acetate co-treated with zinc protoporphyrin] results in increased expression of CHD7 mRNA	22839698
D000077339	Leflunomide	Leflunomide results in increased expression of CHD7 mRNA	28988120
C482199	lipopolysaccharide, E coli O55-B5	lipopolysaccharide, E coli O55-B5 results in increased expression of CHD7 mRNA	24972896
D008627	Mercuric Chloride	Mercuric Chloride affects the expression of CHD7 mRNA	20353558
D008627	Mercuric Chloride	Mercuric Chloride results in increased expression of CHD7 mRNA	16507785
C004925	methylmercuric chloride	methylmercuric chloride affects the expression of CHD7 mRNA	20864626
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of CHD7 mRNA	26011545
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of CHD7 mRNA	23649840
C517284	monomethyl phthalate	monomethyl phthalate affects the expression of CHD7 mRNA	26924002
C022838	nickel chloride	nickel chloride affects the expression of CHD7 mRNA	22110744
C028007	nickel monoxide	nickel monoxide results in increased expression of CHD7 mRNA	19167457
D009534	Niclosamide	Niclosamide results in decreased expression of CHD7 mRNA	31398420
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of CHD7 mRNA	26251327
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in decreased expression of CHD7 mRNA	25729387
D010416	Pentachlorophenol	Pentachlorophenol results in increased expression of CHD7 mRNA	29458080
C006253	pirinixic acid	pirinixic acid results in decreased expression of CHD7 mRNA	23811191
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of CHD7 mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of CHD7 mRNA	22079256
C045950	propiconazole	propiconazole results in decreased expression of CHD7 mRNA	21278054
C017947	sodium arsenite	sodium arsenite results in decreased expression of CHD7 mRNA	21297353
D000077210	Sunitinib	Sunitinib results in decreased expression of CHD7 mRNA	31533062
D013605	T-2 Toxin	T-2 Toxin results in increased expression of CHD7 mRNA	31299295
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of CHD7 mRNA	16214954
D013749	Tetrachlorodibenzodioxin	[TIPARP gene mutant form results in increased susceptibility to Tetrachlorodibenzodioxin] which results in decreased expression of CHD7 mRNA	25975270
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of CHD7 mRNA	22298810
C009495	titanium dioxide	titanium dioxide results in increased expression of CHD7 mRNA	29128614; 29264374;
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in decreased expression of CHD7 mRNA	25729387
D019772	Topotecan	Topotecan results in decreased expression of CHD7 mRNA	25729387
D000077288	Troglitazone	Troglitazone results in decreased expression of CHD7 mRNA	28973697
D014415	Tunicamycin	Tunicamycin results in decreased expression of CHD7 mRNA	22378314
D014635	Valproic Acid	Valproic Acid results in increased methylation of CHD7 gene	29154799
D014638	Vanadates	Vanadates results in decreased expression of CHD7 mRNA	22714537
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of CHD7 gene	25560391
C025643	vinclozolin	vinclozolin results in decreased expression of CHD7 mRNA	18042343
C017803	zinc protoporphyrin	[lead acetate co-treated with zinc protoporphyrin] results in increased expression of CHD7 mRNA	22839698

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0067	ATP-binding
KW-0156	Chromatin regulator
KW-0175	Coiled coil
KW-0225	Disease mutation
KW-0238	DNA-binding
KW-0347	Helicase
KW-0378	Hydrolase
KW-1016	Hypogonadotropic hypogonadism
KW-0956	Kallmann syndrome
KW-0488	Methylation
KW-0547	Nucleotide-binding
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0677	Repeat
KW-0698	rRNA processing
KW-0804	Transcription
KW-0805	Transcription regulation

Interpro

InterPro ID	InterPro Term
IPR006576	BRK_domain
IPR037259	BRK_sf
IPR016197	Chromo-like_dom_sf
IPR000953	Chromo/chromo_shadow_dom
IPR023780	Chromo_domain
IPR014001	Helicase_ATP-bd
IPR001650	Helicase_C
IPR027417	P-loop_NTPase
IPR038718	SNF2-like_sf
IPR000330	SNF2_N

PROSITE

PROSITE ID	PROSITE Term
PS50013	CHROMO_2
PS51192	HELICASE_ATP_BIND_1
PS51194	HELICASE_CTER

Pfam

Pfam ID	Pfam Term
PF07533	BRK
PF00385	Chromo
PF00271	Helicase_C
PF00176	SNF2_N

Gene: CHD7

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction