CleftGeneDB-Search

Gene: WDR19

Basic information

Tag	Content
Uniprot ID	Q8NEZ3; B5MEF2; Q8N5B4; Q9H5S0; Q9HCD4;
Entrez ID	57728
Genbank protein ID	AAK38745.1; EAW92921.1; BAB13464.1; AAH32578.1; BAB15550.1;
Genbank nucleotide ID	NM_001317924.1; NM_025132.3;
Ensembl protein ID	ENSP00000382717
Ensembl nucleotide ID	ENSG00000157796
Gene name	WD repeat-containing protein 19
Gene symbol	WDR19
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	As component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in cilia function and/or assembly (PubMed:20889716). Essential for functional IFT-A assembly and ciliary entry of GPCRs (PubMed:20889716). Associates with the BBSome complex to mediate ciliary transport (By similarity).
Sequence	MKRIFSLLEK TWLGAPIQFA WQKTSGNYLA VTGADYIVKI FDRHGQKRSE INLPGNCVAM 60 DWDKDGDVLA VIAEKSSCIY LWDANTNKTS QLDNGMRDQM SFLLWSKVGS FLAVGTVKGN 120 LLIYNHQTSR KIPVLGKHTK RITCGCWNAE NLLALGGEDK MITVSNQEGD TIRQTQVRSE 180 PSNMQFFLMK MDDRTSAAES MISVVLGKKT LFFLNLNEPD NPADLEFQQD FGNIVCYNWY 240 GDGRIMIGFS CGHFVVISTH TGELGQEIFQ ARNHKDNLTS IAVSQTLNKV ATCGDNCIKI 300 QDLVDLKDMY VILNLDEENK GLGTLSWTDD GQLLALSTQR GSLHVFLTKL PILGDACSTR 360 IAYLTSLLEV TVANPVEGEL PITVSVDVEP NFVAVGLYHL AVGMNNRAWF YVLGENAVKK 420 LKDMEYLGTV ASICLHSDYA AALFEGKVQL HLIESEILDA QEERETRLFP AVDDKCRILC 480 HALTSDFLIY GTDTGVVQYF YIEDWQFVND YRHPVSVKKI FPDPNGTRLV FIDEKSDGFV 540 YCPVNDATYE IPDFSPTIKG VLWENWPMDK GVFIAYDDDK VYTYVFHKDT IQGAKVILAG 600 STKVPFAHKP LLLYNGELTC QTQSGKVNNI YLSTHGFLSN LKDTGPDELR PMLAQNLMLK 660 RFSDAWEMCR ILNDEAAWNE LARACLHHME VEFAIRVYRR IGNVGIVMSL EQIKGIEDYN 720 LLAGHLAMFT NDYNLAQDLY LASSCPIAAL EMRRDLQHWD SALQLAKHLA PDQIPFISKE 780 YAIQLEFAGD YVNALAHYEK GITGDNKEHD EACLAGVAQM SIRMGDIRRG VNQALKHPSR 840 VLKRDCGAIL ENMKQFSEAA QLYEKGLYYD KAASVYIRSK NWAKVGDLLP HVSSPKIHLQ 900 YAKAKEADGR YKEAVVAYEN AKQWQSVIRI YLDHLNNPEK AVNIVRETQS LDGAKMVARF 960 FLQLGDYGSA IQFLVMSKCN NEAFTLAQQH NKMEIYADII GSEDTTNEDY QSIALYFEGE 1020 KRYLQAGKFF LLCGQYSRAL KHFLKCPSSE DNVAIEMAIE TVGQAKDELL TNQLIDHLLG 1080 ENDGMPKDAK YLFRLYMALK QYREAAQTAI IIAREEQSAG NYRNAHDVLF SMYAELKSQK 1140 IKIPSEMATN LMILHSYILV KIHVKNGDHM KGARMLIRVA NNISKFPSHI VPILTSTVIE 1200 CHRAGLKNSA FSFAAMLMRP EYRSKIDAKY KKKIEGMVRR PDISEIEEAT TPCPFCKFLL 1260 PECELLCPGC KNSIPYCIAT GRHMLKDDWT VCPHCDFPAL YSELKIMLNT ESTCPMCSER 1320 LNAAQLKKIS DCTQYLRTEE EL 1342

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

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	WDR19		A0A452EI70		Capra hircus	Prediction	More>>
1:1 ortholog	WDR19	57728	Q8NEZ3		Homo sapiens	Prediction	More>>
1:1 ortholog	Wdr19	213081	Q3UGF1	CPO,CLP	Mus musculus	Publication	More>>
1:1 ortholog	WDR19	461172	H2QPC5		Pan troglodytes	Prediction	More>>
1:1 ortholog	WDR19		I3LLZ8		Sus scrofa	Prediction	More>>
1:1 ortholog	WDR19	100352314	G1SME2		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Wdr19	305349	F1LV01		Rattus norvegicus	Prediction	More>>
1:1 ortholog	wdr19		E7FGG5		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs922584346	p.Arg3His	missense variant	-	NC_000004.12:g.39185727G>A	TOPMed,gnomAD
rs922584346	p.Arg3Leu	missense variant	-	NC_000004.12:g.39185727G>T	TOPMed,gnomAD
rs1237494778	p.Phe5Ser	missense variant	-	NC_000004.12:g.39185733T>C	TOPMed
RCV000681867	p.Phe5Ser	missense variant	-	NC_000004.12:g.39185733T>C	ClinVar
rs387906982	p.Leu7Pro	missense variant	Short-rib thoracic dysplasia 5 with or without polydactyly (SRTD5)	NC_000004.12:g.39185739T>C	UniProt,dbSNP
VAR_067312	p.Leu7Pro	missense variant	Short-rib thoracic dysplasia 5 with or without polydactyly (SRTD5)	NC_000004.12:g.39185739T>C	UniProt
rs387906982	p.Leu7Pro	missense variant	Asphyxiating thoracic dystrophy 5 (atd5)	NC_000004.12:g.39185739T>C	-
RCV000023683	p.Leu7Pro	missense variant	Asphyxiating thoracic dystrophy 5 (SRTD5)	NC_000004.12:g.39185739T>C	ClinVar
rs754949027	p.Leu13Arg	missense variant	-	NC_000004.12:g.39185757T>G	ExAC,gnomAD
rs865806299	p.Ala15Thr	missense variant	-	NC_000004.12:g.39185762G>A	TOPMed,gnomAD
rs747580252	p.Ala15Val	missense variant	-	NC_000004.12:g.39185763C>T	ExAC,gnomAD
rs758117076	p.Pro16Thr	missense variant	-	NC_000004.12:g.39185765C>A	ExAC,gnomAD
rs758117076	p.Pro16Ser	missense variant	-	NC_000004.12:g.39185765C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ile17Leu	missense variant	-	NC_000004.12:g.39185768A>C	NCI-TCGA
rs770324810	p.Gln18Arg	missense variant	-	NC_000004.12:g.39185772A>G	gnomAD
rs1247231925	p.Phe19Cys	missense variant	-	NC_000004.12:g.39185775T>G	gnomAD
RCV000754961	p.Phe19Cys	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39185775T>G	ClinVar
rs747406077	p.Trp21Arg	missense variant	-	NC_000004.12:g.39185780T>A	ExAC,gnomAD
rs545407291	p.Trp21Cys	missense variant	-	NC_000004.12:g.39185782G>C	1000Genomes,ExAC,gnomAD
COSM224667	p.Trp21Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.39185781G>A	NCI-TCGA Cosmic
rs545407291	p.Trp21Ter	stop gained	-	NC_000004.12:g.39185782G>A	1000Genomes,ExAC,gnomAD
rs1169495600	p.Thr24Ala	missense variant	-	NC_000004.12:g.39185789A>G	gnomAD
rs769095843	p.Thr24AsnPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.39185783_39185784insA	NCI-TCGA,NCI-TCGA Cosmic
rs1305420192	p.Asn27Ser	missense variant	-	NC_000004.12:g.39185799A>G	gnomAD
rs924561850	p.Tyr28His	missense variant	-	NC_000004.12:g.39185801T>C	TOPMed,gnomAD
rs776967770	p.Ala30Pro	missense variant	-	NC_000004.12:g.39185807G>C	ExAC,gnomAD
rs776967770	p.Ala30Pro	missense variant	Senior-Loken syndrome 8 (SLSN8)	NC_000004.12:g.39185807G>C	UniProt,dbSNP
VAR_073673	p.Ala30Pro	missense variant	Senior-Loken syndrome 8 (SLSN8)	NC_000004.12:g.39185807G>C	UniProt
rs776967770	p.Ala30Ser	missense variant	-	NC_000004.12:g.39185807G>T	ExAC,gnomAD
rs868429648	p.Val31Ile	missense variant	-	NC_000004.12:g.39185810G>A	TOPMed
rs1363598133	p.Thr32Ala	missense variant	-	NC_000004.12:g.39185813A>G	gnomAD
rs1296450180	p.Gly33Arg	missense variant	-	NC_000004.12:g.39185816G>A	TOPMed,gnomAD
rs1318009175	p.Ala34Thr	missense variant	-	NC_000004.12:g.39186540G>A	TOPMed
rs781578023	p.Tyr36Asp	missense variant	-	NC_000004.12:g.39186546T>G	ExAC,TOPMed,gnomAD
rs375560382	p.Asp42Tyr	missense variant	-	NC_000004.12:g.39186564G>T	ESP,ExAC,TOPMed,gnomAD
rs770312522	p.Arg43Leu	missense variant	-	NC_000004.12:g.39186568G>T	ExAC,TOPMed,gnomAD
rs770312522	p.Arg43His	missense variant	-	NC_000004.12:g.39186568G>A	ExAC,TOPMed,gnomAD
rs1376704482	p.Arg43Cys	missense variant	-	NC_000004.12:g.39186567C>T	TOPMed
rs1400132418	p.Gly45Ser	missense variant	-	NC_000004.12:g.39186573G>A	TOPMed
rs1339586600	p.Arg48Gly	missense variant	-	NC_000004.12:g.39186582A>G	gnomAD
rs372787374	p.Arg48Ile	missense variant	-	NC_000004.12:g.39186583G>T	ESP,ExAC,TOPMed,gnomAD
rs187932771	p.Ser49Arg	missense variant	-	NC_000004.12:g.39186587T>G	1000Genomes,ExAC,gnomAD
rs1281207313	p.Ser49Ile	missense variant	-	NC_000004.12:g.39186586G>T	gnomAD
COSM3428488	p.Glu50Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.39186588G>T	NCI-TCGA Cosmic
rs1267632086	p.Ile51Ser	missense variant	-	NC_000004.12:g.39186592T>G	gnomAD
rs1327204183	p.Asn52Lys	missense variant	-	NC_000004.12:g.39186596C>G	gnomAD
COSM1055193	p.Leu53Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39186597T>G	NCI-TCGA Cosmic
rs762188457	p.Gly55Arg	missense variant	-	NC_000004.12:g.39186603G>C	ExAC,gnomAD
rs545033762	p.Gly55Asp	missense variant	-	NC_000004.12:g.39186604G>A	1000Genomes,ExAC,gnomAD
rs1483597668	p.Cys57Trp	missense variant	-	NC_000004.12:g.39189662T>G	gnomAD
rs999289345	p.Met60Val	missense variant	-	NC_000004.12:g.39189669A>G	gnomAD
rs756407224	p.Asp61Gly	missense variant	-	NC_000004.12:g.39189673A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asp61Asn	missense variant	-	NC_000004.12:g.39189672G>A	NCI-TCGA
rs1452830390	p.Asp65Gly	missense variant	-	NC_000004.12:g.39189685A>G	gnomAD
rs780621466	p.Gly66Glu	missense variant	-	NC_000004.12:g.39189688G>A	ExAC,gnomAD
rs769198434	p.Asp67Asn	missense variant	-	NC_000004.12:g.39189690G>A	ExAC,gnomAD
rs778896318	p.Asp67Gly	missense variant	-	NC_000004.12:g.39189691A>G	ExAC,TOPMed,gnomAD
rs786204852	p.Val68Asp	missense variant	-	NC_000004.12:g.39189694T>A	-
rs786204852	p.Val68Asp	missense variant	Senior-Loken syndrome 8 (SLSN8)	NC_000004.12:g.39189694T>A	UniProt,dbSNP
VAR_073674	p.Val68Asp	missense variant	Senior-Loken syndrome 8 (SLSN8)	NC_000004.12:g.39189694T>A	UniProt
NCI-TCGA novel	p.Val68Ala	missense variant	-	NC_000004.12:g.39189694T>C	NCI-TCGA
RCV000169776	p.Val68Asp	missense variant	Senior-Loken syndrome 8 (SLSN8)	NC_000004.12:g.39189694T>A	ClinVar
rs563965291	p.Ala70Ser	missense variant	-	NC_000004.12:g.39189699G>T	1000Genomes
rs748216356	p.Lys75Gln	missense variant	-	NC_000004.12:g.39189714A>C	ExAC,gnomAD
rs773526685	p.Ser77Ile	missense variant	-	NC_000004.12:g.39189721G>T	ExAC,gnomAD
rs200354828	p.Cys78Ser	missense variant	-	NC_000004.12:g.39189724G>C	1000Genomes,ExAC,gnomAD
rs1232301082	p.Cys78Ter	stop gained	-	NC_000004.12:g.39189725C>A	TOPMed,gnomAD
rs1300106564	p.Ile79Val	missense variant	-	NC_000004.12:g.39189726A>G	TOPMed,gnomAD
rs1343231195	p.Ile79Met	missense variant	-	NC_000004.12:g.39189728T>G	gnomAD
NCI-TCGA novel	p.Ile79Ser	missense variant	-	NC_000004.12:g.39189727T>G	NCI-TCGA
rs1228214710	p.Tyr80Cys	missense variant	-	NC_000004.12:g.39189730A>G	gnomAD
rs775353527	p.Leu81Phe	missense variant	-	NC_000004.12:g.39189732C>T	ExAC,gnomAD
rs762839914	p.Asn85Lys	missense variant	-	NC_000004.12:g.39189746C>G	ExAC,TOPMed,gnomAD
rs1355023242	p.Asn85Tyr	missense variant	-	NC_000004.12:g.39189744A>T	TOPMed
rs762839914	p.Asn85Lys	missense variant	-	NC_000004.12:g.39189746C>A	ExAC,TOPMed,gnomAD
rs764071755	p.Thr86Lys	missense variant	-	NC_000004.12:g.39189748C>A	ExAC,TOPMed,gnomAD
rs1194051878	p.Asn87Asp	missense variant	-	NC_000004.12:g.39189750A>G	TOPMed
rs773875921	p.Thr89Pro	missense variant	-	NC_000004.12:g.39189756A>C	ExAC,gnomAD
rs761275061	p.Ser90Asn	missense variant	-	NC_000004.12:g.39189760G>A	ExAC,gnomAD
rs926405916	p.Leu92Ter	stop gained	-	NC_000004.12:g.39189766T>G	TOPMed,gnomAD
NCI-TCGA novel	p.Asp93His	missense variant	-	NC_000004.12:g.39189768G>C	NCI-TCGA
NCI-TCGA novel	p.Gly95Asp	missense variant	-	NC_000004.12:g.39189775G>A	NCI-TCGA
rs374891297	p.Met96Ile	missense variant	-	NC_000004.12:g.39189779G>A	ESP,ExAC,TOPMed,gnomAD
rs371675778	p.Met96Val	missense variant	-	NC_000004.12:g.39189777A>G	ESP,ExAC,TOPMed,gnomAD
rs755773822	p.Arg97Trp	missense variant	-	NC_000004.12:g.39189780A>T	ExAC,gnomAD
rs766718240	p.Arg97Lys	missense variant	-	NC_000004.12:g.39189781G>A	ExAC,gnomAD
rs767069160	p.Asp98Val	missense variant	-	NC_000004.12:g.39194546A>T	ExAC,gnomAD
rs1317389016	p.Asp98Asn	missense variant	-	NC_000004.12:g.39194545G>A	TOPMed
rs1381726098	p.Ser101Tyr	missense variant	-	NC_000004.12:g.39194555C>A	gnomAD
NCI-TCGA novel	p.Phe102Leu	missense variant	-	NC_000004.12:g.39194559C>A	NCI-TCGA
COSM4904932	p.Leu103Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39194560C>T	NCI-TCGA Cosmic
rs925766312	p.Trp105Ser	missense variant	-	NC_000004.12:g.39194567G>C	TOPMed
rs925766312	p.Trp105Ter	stop gained	-	NC_000004.12:g.39194567G>A	TOPMed
NCI-TCGA novel	p.Trp105LeuPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.39194563_39194564insT	NCI-TCGA
rs760283071	p.Lys107Asn	missense variant	-	NC_000004.12:g.39194574A>C	ExAC,gnomAD
rs766029437	p.Gly109Glu	missense variant	-	NC_000004.12:g.39194579G>A	ExAC,gnomAD
rs755327576	p.Phe111Leu	missense variant	-	NC_000004.12:g.39194586C>A	ExAC,gnomAD
rs1367121511	p.Val114Ala	missense variant	-	NC_000004.12:g.39194594T>C	TOPMed
rs1456130645	p.Gly115Glu	missense variant	-	NC_000004.12:g.39194597G>A	gnomAD
rs376471437	p.Gly115Arg	missense variant	-	NC_000004.12:g.39194596G>A	ESP,ExAC,TOPMed,gnomAD
rs753196256	p.Thr116Asn	missense variant	-	NC_000004.12:g.39194600C>A	ExAC,gnomAD
rs1257397069	p.Gly119Ala	missense variant	-	NC_000004.12:g.39194609G>C	gnomAD
rs1257397069	p.Gly119Glu	missense variant	-	NC_000004.12:g.39194609G>A	gnomAD
rs568869081	p.Asn125Tyr	missense variant	-	NC_000004.12:g.39194626A>T	1000Genomes,gnomAD
rs1199717543	p.Asn125Ser	missense variant	-	NC_000004.12:g.39194627A>G	TOPMed,gnomAD
rs568869081	p.Asn125Asp	missense variant	-	NC_000004.12:g.39194626A>G	1000Genomes,gnomAD
rs568869081	p.Asn125His	missense variant	-	NC_000004.12:g.39194626A>C	1000Genomes,gnomAD
rs1187572881	p.Thr128Ile	missense variant	-	NC_000004.12:g.39194636C>T	TOPMed
rs778039192	p.Arg130Ter	stop gained	-	NC_000004.12:g.39194641C>T	ExAC,gnomAD
rs747065633	p.Arg130Gln	missense variant	-	NC_000004.12:g.39194642G>A	ExAC,TOPMed,gnomAD
COSM3993658	p.Arg130Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39194641C>G	NCI-TCGA Cosmic
RCV000762096	p.Arg130Gln	missense variant	-	NC_000004.12:g.39194642G>A	ClinVar
rs1412739019	p.Ile132Val	missense variant	-	NC_000004.12:g.39194647A>G	gnomAD
rs1361187656	p.Leu135Pro	missense variant	-	NC_000004.12:g.39194657T>C	gnomAD
rs1157108574	p.Leu135Phe	missense variant	-	NC_000004.12:g.39194656C>T	gnomAD
rs763605734	p.Lys137Arg	missense variant	-	NC_000004.12:g.39199481A>G	ExAC,TOPMed,gnomAD
rs764648658	p.His138Tyr	missense variant	-	NC_000004.12:g.39199483C>T	ExAC,gnomAD
rs918439697	p.Thr139Ile	missense variant	-	NC_000004.12:g.39199487C>T	TOPMed,gnomAD
rs918439697	p.Thr139Asn	missense variant	-	NC_000004.12:g.39199487C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Lys140Asn	missense variant	-	NC_000004.12:g.39199491G>C	NCI-TCGA
rs1300821144	p.Thr143Ser	missense variant	-	NC_000004.12:g.39199498A>T	TOPMed,gnomAD
rs1343959332	p.Cys144Ser	missense variant	-	NC_000004.12:g.39199502G>C	TOPMed,gnomAD
rs1343959332	p.Cys144Tyr	missense variant	-	NC_000004.12:g.39199502G>A	TOPMed,gnomAD
rs1343959332	p.Cys144Phe	missense variant	-	NC_000004.12:g.39199502G>T	TOPMed,gnomAD
rs1273811425	p.Trp147Cys	missense variant	-	NC_000004.12:g.39199512G>T	gnomAD
rs1305748043	p.Asn148Ser	missense variant	-	NC_000004.12:g.39199514A>G	gnomAD
COSM6100016	p.Asn151Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39199523A>C	NCI-TCGA Cosmic
rs750719225	p.Leu153Phe	missense variant	-	NC_000004.12:g.39199528C>T	ExAC,gnomAD
rs1193166240	p.Gly156Ser	missense variant	-	NC_000004.12:g.39199537G>A	gnomAD
rs1251436794	p.Glu158Gly	missense variant	-	NC_000004.12:g.39199544A>G	gnomAD
rs1451698951	p.Asp159Asn	missense variant	-	NC_000004.12:g.39199546G>A	gnomAD
RCV000515949	p.Asp159Asn	missense variant	Type IV short rib polydactyly syndrome (SRTD12)	NC_000004.12:g.39199546G>A	ClinVar
rs756321262	p.Lys160Arg	missense variant	-	NC_000004.12:g.39199550A>G	ExAC,TOPMed,gnomAD
rs1419386520	p.Met161Ile	missense variant	-	NC_000004.12:g.39199554G>T	gnomAD
rs199514431	p.Val164Ile	missense variant	-	NC_000004.12:g.39199561G>A	ESP,ExAC,TOPMed,gnomAD
rs1167555051	p.Gln167Pro	missense variant	-	NC_000004.12:g.39199571A>C	gnomAD
rs1167555051	p.Gln167Arg	missense variant	-	NC_000004.12:g.39199571A>G	gnomAD
rs772017135	p.Gly169Val	missense variant	-	NC_000004.12:g.39199577G>T	ExAC,gnomAD
rs777646123	p.Thr171Met	missense variant	-	NC_000004.12:g.39199583C>T	ExAC,TOPMed,gnomAD
rs777646123	p.Thr171Arg	missense variant	-	NC_000004.12:g.39199583C>G	ExAC,TOPMed,gnomAD
rs1366988875	p.Ile172Val	missense variant	-	NC_000004.12:g.39199585A>G	gnomAD
rs373766655	p.Arg173Thr	missense variant	-	NC_000004.12:g.39199589G>C	ESP,ExAC,gnomAD
rs745323786	p.Ser182Arg	missense variant	-	NC_000004.12:g.39203665C>G	ExAC,gnomAD
rs769602871	p.Gln185Glu	missense variant	-	NC_000004.12:g.39203672C>G	ExAC,TOPMed
rs1193209642	p.Lys190Glu	missense variant	-	NC_000004.12:g.39203687A>G	TOPMed
COSM4843302	p.Lys190Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39203689G>C	NCI-TCGA Cosmic
rs775219254	p.Asp192Val	missense variant	-	NC_000004.12:g.39203694A>T	ExAC,gnomAD
rs943893096	p.Arg194Gln	missense variant	-	NC_000004.12:g.39203700G>A	TOPMed,gnomAD
rs943893096	p.Arg194Leu	missense variant	-	NC_000004.12:g.39203700G>T	TOPMed,gnomAD
rs1445634325	p.Arg194Ter	stop gained	-	NC_000004.12:g.39203699C>T	gnomAD
rs1238537245	p.Ser196Cys	missense variant	-	NC_000004.12:g.39203706C>G	gnomAD
rs575149055	p.Ala198Thr	missense variant	-	NC_000004.12:g.39203711G>A	TOPMed,gnomAD
COSM3993659	p.Glu199Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39203716A>C	NCI-TCGA Cosmic
rs749686201	p.Met201Thr	missense variant	-	NC_000004.12:g.39203721T>C	ExAC,gnomAD
rs1321065360	p.Met201Val	missense variant	-	NC_000004.12:g.39203720A>G	gnomAD
rs1254605580	p.Val204Met	missense variant	-	NC_000004.12:g.39205160G>A	TOPMed,gnomAD
rs758413433	p.Val205Leu	missense variant	-	NC_000004.12:g.39205163G>C	gnomAD
rs1064796986	p.Leu206Pro	missense variant	-	NC_000004.12:g.39205167T>C	-
RCV000479045	p.Leu206Pro	missense variant	-	NC_000004.12:g.39205167T>C	ClinVar
rs1162036832	p.Leu211Phe	missense variant	-	NC_000004.12:g.39205183G>T	gnomAD
rs1478781970	p.Phe212Leu	missense variant	-	NC_000004.12:g.39205184T>C	gnomAD
COSM481241	p.Phe213Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39205187T>A	NCI-TCGA Cosmic
rs751290509	p.Leu214Ter	stop gained	-	NC_000004.12:g.39205191T>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu214PhePheSerTerUnk	frameshift	-	NC_000004.12:g.39205183_39205184insTT	NCI-TCGA
COSM2846526	p.Leu214Ter	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.39205184T>-	NCI-TCGA Cosmic
COSM1429603	p.Leu214PhePheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.39205183_39205184insT	NCI-TCGA Cosmic
RCV000115010	p.Leu214Ter	frameshift	Senior-Loken syndrome 8 (SLSN8)	NC_000004.12:g.39205191dup	ClinVar
RCV000779440	p.Leu214Ter	nonsense	WDR19-Related Disorders	NC_000004.12:g.39205191T>A	ClinVar
rs1394186805	p.Pro219Leu	missense variant	-	NC_000004.12:g.39205206C>T	TOPMed,gnomAD
rs1172820142	p.Pro219Ser	missense variant	-	NC_000004.12:g.39205205C>T	gnomAD
rs1432634673	p.Asn221His	missense variant	-	NC_000004.12:g.39205211A>C	gnomAD
rs757241775	p.Pro222Ala	missense variant	-	NC_000004.12:g.39205214C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro222Ser	missense variant	-	NC_000004.12:g.39205214C>T	NCI-TCGA
rs1371153516	p.Ala223Thr	missense variant	-	NC_000004.12:g.39205217G>A	gnomAD
rs587777350	p.Gln228Ter	stop gained	Nephronophthisis 13 (nphp13)	NC_000004.12:g.39205232C>T	-
RCV000115012	p.Gln228Ter	nonsense	Nephronophthisis 13 (NPHP13)	NC_000004.12:g.39205232C>T	ClinVar
rs202232525	p.Asp230Ala	missense variant	-	NC_000004.12:g.39205239A>C	ESP,ExAC,TOPMed,gnomAD
rs1328322728	p.Phe231Leu	missense variant	-	NC_000004.12:g.39205241T>C	gnomAD
rs745377050	p.Asn233Asp	missense variant	-	NC_000004.12:g.39205247A>G	ExAC,gnomAD
rs755629699	p.Tyr237Cys	missense variant	-	NC_000004.12:g.39205260A>G	ExAC,TOPMed,gnomAD
rs1347531361	p.Asn238Ser	missense variant	-	NC_000004.12:g.39205263A>G	TOPMed,gnomAD
rs776687469	p.Gly243Val	missense variant	-	NC_000004.12:g.39205574G>T	ExAC,TOPMed,gnomAD
rs776687469	p.Gly243Ala	missense variant	-	NC_000004.12:g.39205574G>C	ExAC,TOPMed,gnomAD
RCV000414473	p.Gly243Val	missense variant	-	NC_000004.12:g.39205574G>T	ClinVar
rs759803480	p.Arg244Cys	missense variant	-	NC_000004.12:g.39205576C>T	ExAC,TOPMed,gnomAD
rs527709762	p.Arg244His	missense variant	-	NC_000004.12:g.39205577G>A	ExAC,TOPMed,gnomAD
COSM6100015	p.Ile245Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39205579A>T	NCI-TCGA Cosmic
rs751402776	p.Met246Thr	missense variant	-	NC_000004.12:g.39205583T>C	ExAC,gnomAD
rs1272123640	p.Met246Val	missense variant	-	NC_000004.12:g.39205582A>G	TOPMed,gnomAD
rs756937727	p.Met246Ile	missense variant	-	NC_000004.12:g.39205584G>A	ExAC,gnomAD
rs1286460047	p.Ile247Val	missense variant	-	NC_000004.12:g.39205585A>G	TOPMed
rs1064796985	p.Gly248Ser	missense variant	-	NC_000004.12:g.39205588G>A	-
RCV000484356	p.Gly248Ser	missense variant	-	NC_000004.12:g.39205588G>A	ClinVar
rs1553905326	p.Phe249Ser	missense variant	-	NC_000004.12:g.39205592T>C	-
RCV000515976	p.Phe249Ser	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39205592T>C	ClinVar
rs767505839	p.Ser250Pro	missense variant	-	NC_000004.12:g.39205594T>C	ExAC,gnomAD
rs1446393665	p.Ser250Ter	stop gained	-	NC_000004.12:g.39205595C>G	TOPMed
rs1190857734	p.Val255Met	missense variant	-	NC_000004.12:g.39205609G>A	gnomAD
rs753373226	p.Thr259Ile	missense variant	-	NC_000004.12:g.39205622C>T	ExAC,gnomAD
rs1402291883	p.Thr259Ala	missense variant	-	NC_000004.12:g.39205621A>G	TOPMed
rs754678482	p.His260Tyr	missense variant	-	NC_000004.12:g.39205624C>T	ExAC,gnomAD
rs778387314	p.Thr261Ile	missense variant	-	NC_000004.12:g.39205628C>T	ExAC,gnomAD
RCV000779441	p.Thr261Ter	frameshift	WDR19-Related Disorders	NC_000004.12:g.39205627dup	ClinVar
RCV000850616	p.Thr261Ter	frameshift	Nephronophthisis 13 (NPHP13)	NC_000004.12:g.39205627dup	ClinVar
RCV000515920	p.Thr261Ter	frameshift	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39205627dup	ClinVar
rs778096567	p.Gly262Glu	missense variant	-	NC_000004.12:g.39205631G>A	ExAC,TOPMed,gnomAD
rs772265175	p.Gly262Arg	missense variant	-	NC_000004.12:g.39205630G>A	ExAC,TOPMed,gnomAD
rs747581582	p.Glu263Asp	missense variant	-	NC_000004.12:g.39205635G>C	ExAC,gnomAD
rs776714032	p.Glu267Asp	missense variant	-	NC_000004.12:g.39205647G>C	ExAC,gnomAD
rs372022021	p.Ile268Leu	missense variant	-	NC_000004.12:g.39205648A>T	ESP,ExAC,TOPMed,gnomAD
rs1203227938	p.Gln270Arg	missense variant	-	NC_000004.12:g.39205655A>G	gnomAD
rs981943939	p.Ala271Val	missense variant	-	NC_000004.12:g.39205658C>T	TOPMed
rs199812132	p.Arg272Gly	missense variant	-	NC_000004.12:g.39205660C>G	ExAC,TOPMed,gnomAD
rs552334665	p.Arg272His	missense variant	-	NC_000004.12:g.39205661G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs199812132	p.Arg272Cys	missense variant	-	NC_000004.12:g.39205660C>T	ExAC,TOPMed,gnomAD
rs199812132	p.Arg272Cys	missense variant	Senior-Loken syndrome 8 (SLSN8)	NC_000004.12:g.39205660C>T	UniProt,dbSNP
VAR_073676	p.Arg272Cys	missense variant	Senior-Loken syndrome 8 (SLSN8)	NC_000004.12:g.39205660C>T	UniProt
rs375644378	p.Asn273Asp	missense variant	-	NC_000004.12:g.39205663A>G	ESP,ExAC,TOPMed,gnomAD
RCV000515807	p.Asn273Asp	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39205663A>G	ClinVar
rs1417179940	p.His274Arg	missense variant	-	NC_000004.12:g.39205667A>G	gnomAD
rs760748596	p.Asp276Gly	missense variant	-	NC_000004.12:g.39205673A>G	ExAC,gnomAD
rs1364657304	p.Thr279Ala	missense variant	-	NC_000004.12:g.39205681A>G	gnomAD
rs369657594	p.Ile281Thr	missense variant	-	NC_000004.12:g.39205688T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753426600	p.Val283Ala	missense variant	-	NC_000004.12:g.39205694T>C	ExAC,gnomAD
rs778639199	p.Ser284Leu	missense variant	-	NC_000004.12:g.39205697C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser284Ter	stop gained	-	NC_000004.12:g.39205697C>A	NCI-TCGA
rs1307249843	p.Leu287Val	missense variant	-	NC_000004.12:g.39205705C>G	gnomAD
rs778150036	p.Lys289Glu	missense variant	-	NC_000004.12:g.39205711A>G	ExAC,gnomAD
rs1236463983	p.Lys289Arg	missense variant	-	NC_000004.12:g.39205712A>G	gnomAD
rs972038024	p.Thr292Ile	missense variant	-	NC_000004.12:g.39205721C>T	TOPMed
rs1255397863	p.Cys293Tyr	missense variant	-	NC_000004.12:g.39205724G>A	gnomAD
rs1209985738	p.Cys293Arg	missense variant	-	NC_000004.12:g.39205723T>C	gnomAD
rs377160857	p.Gly294Arg	missense variant	-	NC_000004.12:g.39205726G>A	ESP,ExAC,TOPMed,gnomAD
RCV000516052	p.Gly294Arg	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39205726G>A	ClinVar
rs1263216339	p.Asp295Asn	missense variant	-	NC_000004.12:g.39205729G>A	gnomAD
rs1179073990	p.Asn296Asp	missense variant	-	NC_000004.12:g.39205732A>G	gnomAD
NCI-TCGA novel	p.Asn296Ser	missense variant	-	NC_000004.12:g.39205733A>G	NCI-TCGA
rs866720174	p.Ile298Val	missense variant	-	NC_000004.12:g.39214602A>G	-
RCV000332363	p.Ile298Val	missense variant	-	NC_000004.12:g.39214602A>G	ClinVar
NCI-TCGA novel	p.Lys299Glu	missense variant	-	NC_000004.12:g.39214605A>G	NCI-TCGA
rs1193460368	p.Gln301Ter	stop gained	-	NC_000004.12:g.39214611C>T	gnomAD
rs1393778682	p.Asp302Tyr	missense variant	-	NC_000004.12:g.39214614G>T	gnomAD
rs763697118	p.Asp302Glu	missense variant	-	NC_000004.12:g.39214616C>G	ExAC,TOPMed,gnomAD
rs75964850	p.Val304Ile	missense variant	-	NC_000004.12:g.39214620G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000259570	p.Val304Ile	missense variant	Cranioectodermal dysplasia	NC_000004.12:g.39214620G>A	ClinVar
RCV000333519	p.Val304Ile	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39214620G>A	ClinVar
rs781525188	p.Met309Thr	missense variant	-	NC_000004.12:g.39214636T>C	ExAC,gnomAD
rs746431590	p.Tyr310His	missense variant	-	NC_000004.12:g.39214638T>C	ExAC,gnomAD
rs199783864	p.Tyr310Cys	missense variant	-	NC_000004.12:g.39214639A>G	ESP,ExAC,TOPMed,gnomAD
rs746431590	p.Tyr310Asp	missense variant	-	NC_000004.12:g.39214638T>G	ExAC,gnomAD
RCV000274582	p.Tyr310Cys	missense variant	Cranioectodermal dysplasia	NC_000004.12:g.39214639A>G	ClinVar
RCV000387750	p.Tyr310Cys	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39214639A>G	ClinVar
RCV000693524	p.Tyr310Cys	missense variant	Asphyxiating thoracic dystrophy 5 (SRTD5)	NC_000004.12:g.39214639A>G	ClinVar
rs1300934052	p.Val311Ile	missense variant	-	NC_000004.12:g.39214641G>A	gnomAD
rs780050672	p.Ile312Val	missense variant	-	NC_000004.12:g.39214644A>G	ExAC,gnomAD
rs886059396	p.Ile312Thr	missense variant	-	NC_000004.12:g.39214645T>C	-
RCV000329625	p.Ile312Thr	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39214645T>C	ClinVar
RCV000384136	p.Ile312Thr	missense variant	Cranioectodermal dysplasia	NC_000004.12:g.39214645T>C	ClinVar
rs1193255568	p.Leu325Ser	missense variant	-	NC_000004.12:g.39215853T>C	TOPMed
RCV000754957	p.Leu325Ser	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39215853T>C	ClinVar
rs1390489163	p.Trp327Ter	stop gained	-	NC_000004.12:g.39215860G>A	gnomAD
rs1440479412	p.Thr328Ser	missense variant	-	NC_000004.12:g.39215862C>G	TOPMed
rs762383451	p.Asp330Asn	missense variant	-	NC_000004.12:g.39215867G>A	ExAC,gnomAD
RCV000722652	p.Gly331Cys	missense variant	-	NC_000004.12:g.39215870G>T	ClinVar
rs1005141668	p.Ala335Pro	missense variant	-	NC_000004.12:g.39215882G>C	TOPMed,gnomAD
rs1005141668	p.Ala335Ser	missense variant	-	NC_000004.12:g.39215882G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ser337Pro	missense variant	-	NC_000004.12:g.39215888T>C	NCI-TCGA
rs751273120	p.Thr338Ser	missense variant	-	NC_000004.12:g.39215892C>G	ExAC,TOPMed,gnomAD
rs751273120	p.Thr338Asn	missense variant	-	NC_000004.12:g.39215892C>A	ExAC,TOPMed,gnomAD
rs773773910	p.Gln339Arg	missense variant	-	NC_000004.12:g.39215895A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln339Glu	missense variant	-	NC_000004.12:g.39215894C>G	NCI-TCGA
NCI-TCGA novel	p.Gly341Val	missense variant	-	NC_000004.12:g.39215901G>T	NCI-TCGA
rs76599296	p.His344Asp	missense variant	-	NC_000004.12:g.39215909C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs376527958	p.His344Arg	missense variant	-	NC_000004.12:g.39215910A>G	ESP,ExAC,TOPMed,gnomAD
RCV000756915	p.His344Asp	missense variant	-	NC_000004.12:g.39215909C>G	ClinVar
rs376527958	p.His344Leu	missense variant	-	NC_000004.12:g.39215910A>T	ESP,ExAC,TOPMed,gnomAD
rs387906983	p.Val345Gly	missense variant	Nephronophthisis 13 (NPHP13)	NC_000004.12:g.39215913T>G	UniProt,dbSNP
VAR_067313	p.Val345Gly	missense variant	Nephronophthisis 13 (NPHP13)	NC_000004.12:g.39215913T>G	UniProt
rs387906983	p.Val345Gly	missense variant	Nephronophthisis 13 (nphp13)	NC_000004.12:g.39215913T>G	-
RCV000023684	p.Val345Gly	missense variant	Nephronophthisis 13 (NPHP13)	NC_000004.12:g.39215913T>G	ClinVar
rs1217008548	p.Thr348Ile	missense variant	-	NC_000004.12:g.39215922C>T	gnomAD
rs187559874	p.Ile352Val	missense variant	-	NC_000004.12:g.39215933A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1485151462	p.Ile352Thr	missense variant	-	NC_000004.12:g.39215934T>C	TOPMed,gnomAD
rs755047168	p.Leu353Arg	missense variant	-	NC_000004.12:g.39215937T>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu353Ile	missense variant	-	NC_000004.12:g.39215936C>A	NCI-TCGA
rs192495145	p.Asp355Gly	missense variant	-	NC_000004.12:g.39215943A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs192495145	p.Asp355Val	missense variant	-	NC_000004.12:g.39215943A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000345040	p.Asp355Val	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39215943A>T	ClinVar
RCV000289997	p.Asp355Val	missense variant	Cranioectodermal dysplasia	NC_000004.12:g.39215943A>T	ClinVar
rs565630355	p.Ala356Thr	missense variant	-	NC_000004.12:g.39215945G>A	1000Genomes,ExAC,gnomAD
rs1409790963	p.Cys357Ter	stop gained	-	NC_000004.12:g.39215950C>A	gnomAD
rs1173477624	p.Thr359Ala	missense variant	-	NC_000004.12:g.39215954A>G	TOPMed
rs1420677893	p.Ile361Val	missense variant	-	NC_000004.12:g.39215960A>G	TOPMed
RCV000653248	p.Ile361Ter	frameshift	Asphyxiating thoracic dystrophy 5 (SRTD5)	NC_000004.12:g.39215959del	ClinVar
NCI-TCGA novel	p.Ala362Val	missense variant	-	NC_000004.12:g.39215964C>T	NCI-TCGA
rs987454936	p.Tyr363His	missense variant	-	NC_000004.12:g.39215966T>C	TOPMed
rs745627337	p.Thr365Ala	missense variant	-	NC_000004.12:g.39215972A>G	ExAC,gnomAD
rs1064797308	p.Leu367Val	missense variant	-	NC_000004.12:g.39215978C>G	-
RCV000488022	p.Leu367Val	missense variant	-	NC_000004.12:g.39215978C>G	ClinVar
NCI-TCGA novel	p.Leu367ThrPheSerTerUnk	stop gained	-	NC_000004.12:g.39215977_39215978insACCCTCCAATAGG	NCI-TCGA
rs184326673	p.Val372Ile	missense variant	-	NC_000004.12:g.39215993G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs184326673	p.Val372Leu	missense variant	-	NC_000004.12:g.39215993G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs371744495	p.Ala373Gly	missense variant	-	NC_000004.12:g.39215997C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1053642158	p.Val376Phe	missense variant	-	NC_000004.12:g.39216005G>T	TOPMed,gnomAD
rs773816730	p.Val376Ala	missense variant	-	NC_000004.12:g.39216006T>C	ExAC,TOPMed,gnomAD
rs1053642158	p.Val376Ile	missense variant	-	NC_000004.12:g.39216005G>A	TOPMed,gnomAD
rs1213573896	p.Gly378Arg	missense variant	-	NC_000004.12:g.39216011G>A	gnomAD
rs1436422193	p.Glu379Ala	missense variant	-	NC_000004.12:g.39216097A>C	gnomAD
rs1386597327	p.Glu379Lys	missense variant	-	NC_000004.12:g.39216096G>A	gnomAD
NCI-TCGA novel	p.Leu380Gln	missense variant	-	NC_000004.12:g.39216100T>A	NCI-TCGA
rs755540447	p.Pro381Arg	missense variant	-	NC_000004.12:g.39216103C>G	ExAC,gnomAD
rs779175537	p.Ile382Val	missense variant	-	NC_000004.12:g.39216105A>G	ExAC,TOPMed,gnomAD
rs377067096	p.Val388Ala	missense variant	-	NC_000004.12:g.39216124T>C	ESP,TOPMed,gnomAD
rs752803760	p.Pro390Thr	missense variant	-	NC_000004.12:g.39216129C>A	ExAC,TOPMed,gnomAD
rs758716599	p.Asn391Ser	missense variant	-	NC_000004.12:g.39216133A>G	ExAC,TOPMed,gnomAD
rs745663373	p.Phe392Val	missense variant	-	NC_000004.12:g.39216135T>G	ExAC,gnomAD
rs1209378665	p.Gly396Asp	missense variant	-	NC_000004.12:g.39216148G>A	gnomAD
rs1347850554	p.Gly396Cys	missense variant	-	NC_000004.12:g.39216147G>T	gnomAD
rs1437905163	p.Tyr398Cys	missense variant	-	NC_000004.12:g.39216154A>G	gnomAD
rs1180634321	p.His399Tyr	missense variant	-	NC_000004.12:g.39216156C>T	gnomAD
rs1194084177	p.Ala401Ser	missense variant	-	NC_000004.12:g.39216162G>T	TOPMed,gnomAD
rs1330372193	p.Asn406Ser	missense variant	-	NC_000004.12:g.39216178A>G	gnomAD
rs1432742641	p.Arg407Ter	stop gained	-	NC_000004.12:g.39216180C>T	gnomAD
rs373036887	p.Arg407Gln	missense variant	-	NC_000004.12:g.39216181G>A	ExAC,gnomAD
rs1398656246	p.Ala408Thr	missense variant	-	NC_000004.12:g.39216183G>A	gnomAD
rs773869785	p.Phe410Leu	missense variant	-	NC_000004.12:g.39216189T>C	ExAC,gnomAD
rs761268969	p.Tyr411Cys	missense variant	-	NC_000004.12:g.39216193A>G	ExAC,gnomAD
rs1375003683	p.Gly414Glu	missense variant	-	NC_000004.12:g.39216202G>A	gnomAD
rs771631714	p.Asn416Asp	missense variant	-	NC_000004.12:g.39216207A>G	ExAC,gnomAD
COSM3409282	p.Lys420Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39217144A>T	NCI-TCGA Cosmic
rs751873298	p.Leu421Phe	missense variant	-	NC_000004.12:g.39217147G>T	ExAC,gnomAD
rs777701472	p.Leu421Met	missense variant	-	NC_000004.12:g.39217145T>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu421IlePheSerTerUnkUnk	frameshift	-	NC_000004.12:g.39217138_39217139insA	NCI-TCGA
rs1202290974	p.Asp423His	missense variant	-	NC_000004.12:g.39217151G>C	TOPMed
rs1306716711	p.Asp423Ala	missense variant	-	NC_000004.12:g.39217152A>C	TOPMed
rs757388299	p.Met424Thr	missense variant	-	NC_000004.12:g.39217155T>C	ExAC,gnomAD
NCI-TCGA novel	p.Tyr426Cys	missense variant	-	NC_000004.12:g.39217161A>G	NCI-TCGA
rs779945910	p.Thr429Ile	missense variant	-	NC_000004.12:g.39217170C>T	ExAC,gnomAD
rs768607581	p.Ala431Val	missense variant	-	NC_000004.12:g.39217176C>T	ExAC,gnomAD
rs749030877	p.Ala431Thr	missense variant	-	NC_000004.12:g.39217175G>A	ExAC,gnomAD
rs778750936	p.Ser432Gly	missense variant	-	NC_000004.12:g.39217178A>G	ExAC,TOPMed,gnomAD
rs771674750	p.Leu435Phe	missense variant	-	NC_000004.12:g.39217187C>T	ExAC,gnomAD
rs1472206592	p.Asp438Glu	missense variant	-	NC_000004.12:g.39217198C>G	TOPMed,gnomAD
rs200452234	p.Ala442Val	missense variant	-	NC_000004.12:g.39217209C>T	1000Genomes,ExAC,gnomAD
rs1368404511	p.Leu443Ile	missense variant	-	NC_000004.12:g.39217211C>A	TOPMed
rs1391496744	p.Gly446Val	missense variant	-	NC_000004.12:g.39217221G>T	TOPMed
rs760418892	p.Val448Ile	missense variant	-	NC_000004.12:g.39217226G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ile453LysPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.39217984T>-	NCI-TCGA
rs571091734	p.Ser455Arg	missense variant	-	NC_000004.12:g.39217991C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs539621646	p.Glu456Lys	missense variant	-	NC_000004.12:g.39217992G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM1429606	p.Ala460Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39218005C>T	NCI-TCGA Cosmic
rs1334930868	p.Gln461Leu	missense variant	-	NC_000004.12:g.39218008A>T	TOPMed,gnomAD
rs1334930868	p.Gln461Pro	missense variant	-	NC_000004.12:g.39218008A>C	TOPMed,gnomAD
rs777393995	p.Glu463Gly	missense variant	-	NC_000004.12:g.39218014A>G	ExAC,TOPMed,gnomAD
rs369201153	p.Arg464His	missense variant	-	NC_000004.12:g.39218017G>A	ESP,ExAC,TOPMed,gnomAD
rs201148758	p.Arg464Cys	missense variant	-	NC_000004.12:g.39218016C>T	ExAC,TOPMed,gnomAD
RCV000325851	p.Arg464Cys	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39218016C>T	ClinVar
RCV000380471	p.Arg464Cys	missense variant	Cranioectodermal dysplasia	NC_000004.12:g.39218016C>T	ClinVar
rs190692187	p.Glu465Ter	stop gained	-	NC_000004.12:g.39218019G>T	1000Genomes
rs1210120690	p.Thr466Ile	missense variant	-	NC_000004.12:g.39218023C>T	gnomAD
rs199991653	p.Arg467Gln	missense variant	-	NC_000004.12:g.39218026G>A	ESP,ExAC,TOPMed,gnomAD
rs373269235	p.Arg467Trp	missense variant	-	NC_000004.12:g.39218025C>T	ESP,TOPMed
NCI-TCGA novel	p.Arg467Leu	missense variant	-	NC_000004.12:g.39218026G>T	NCI-TCGA
COSM587225	p.Arg467Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39218026G>C	NCI-TCGA Cosmic
rs1054078971	p.Phe469Ser	missense variant	-	NC_000004.12:g.39218032T>C	TOPMed
COSM6167113	p.Ala471Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39218037G>A	NCI-TCGA Cosmic
rs745502826	p.Ala471Val	missense variant	-	NC_000004.12:g.39218038C>T	ExAC,gnomAD
rs770348855	p.Val472Glu	missense variant	-	NC_000004.12:g.39218041T>A	ExAC,gnomAD
rs1177214309	p.Asp474Tyr	missense variant	-	NC_000004.12:g.39218046G>T	gnomAD
rs1397294886	p.Asp474Gly	missense variant	-	NC_000004.12:g.39218047A>G	gnomAD
NCI-TCGA novel	p.Lys475Ter	frameshift	-	NC_000004.12:g.39218047_39218048insT	NCI-TCGA
rs1486213364	p.Cys476Arg	missense variant	-	NC_000004.12:g.39218052T>C	TOPMed
rs371117988	p.Arg477Leu	missense variant	-	NC_000004.12:g.39218056G>T	ESP,ExAC,gnomAD
rs371117988	p.Arg477His	missense variant	-	NC_000004.12:g.39218056G>A	ESP,ExAC,gnomAD
rs771411868	p.Arg477Cys	missense variant	-	NC_000004.12:g.39218055C>T	ExAC,gnomAD
RCV000082250	p.Arg477His	missense variant	-	NC_000004.12:g.39218056G>A	ClinVar
rs886039814	p.Ile478Met	missense variant	-	NC_000004.12:g.39218060C>G	-
RCV000256446	p.Ile478Met	missense variant	Cranioectodermal dysplasia	NC_000004.12:g.39218060C>G	ClinVar
rs1356874486	p.Cys480Arg	missense variant	-	NC_000004.12:g.39218064T>C	gnomAD
rs1208451528	p.Ile489Val	missense variant	-	NC_000004.12:g.39218091A>G	TOPMed
rs1395393322	p.Tyr490Cys	missense variant	-	NC_000004.12:g.39218095A>G	TOPMed,gnomAD
rs761729644	p.Tyr490His	missense variant	-	NC_000004.12:g.39218094T>C	ExAC,gnomAD
rs587777349	p.Asp493His	missense variant	Senior-Loken syndrome 8 (SLSN8)	NC_000004.12:g.39218103G>C	UniProt,dbSNP
VAR_073677	p.Asp493His	missense variant	Senior-Loken syndrome 8 (SLSN8)	NC_000004.12:g.39218103G>C	UniProt
rs587777349	p.Asp493His	missense variant	-	NC_000004.12:g.39218103G>C	ExAC,TOPMed,gnomAD
rs750706588	p.Asp493Gly	missense variant	-	NC_000004.12:g.39218104A>G	ExAC,gnomAD
RCV000115011	p.Asp493His	missense variant	Senior-Loken syndrome 8 (SLSN8)	NC_000004.12:g.39218103G>C	ClinVar
rs1215108056	p.Gly495Arg	missense variant	-	NC_000004.12:g.39224887G>C	gnomAD
RCV000516069	p.Gly495Arg	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39224887G>C	ClinVar
rs772209665	p.Val496Ala	missense variant	-	NC_000004.12:g.39224891T>C	ExAC,gnomAD
rs1482640692	p.Val496Ile	missense variant	-	NC_000004.12:g.39224890G>A	TOPMed,gnomAD
rs773247843	p.Val497Ile	missense variant	-	NC_000004.12:g.39224893G>A	ExAC,TOPMed,gnomAD
rs760939643	p.Tyr501Cys	missense variant	-	NC_000004.12:g.39224906A>G	ExAC,TOPMed,gnomAD
rs766541781	p.Ile502Val	missense variant	-	NC_000004.12:g.39224908A>G	ExAC,TOPMed,gnomAD
rs766541781	p.Ile502Leu	missense variant	-	NC_000004.12:g.39224908A>C	ExAC,TOPMed,gnomAD
rs1245370069	p.Trp505Ter	stop gained	-	NC_000004.12:g.39224919G>A	TOPMed,gnomAD
rs1259448445	p.Gln506Ter	stop gained	-	NC_000004.12:g.39224920C>T	gnomAD
rs752569879	p.Phe507Leu	missense variant	-	NC_000004.12:g.39224925C>A	ExAC,TOPMed,gnomAD
rs764106666	p.Val508Ile	missense variant	-	NC_000004.12:g.39224926G>A	ExAC,TOPMed,gnomAD
rs1422217471	p.Tyr511His	missense variant	-	NC_000004.12:g.39224935T>C	gnomAD
rs1476588496	p.Arg512Ter	stop gained	-	NC_000004.12:g.39224938C>T	gnomAD
rs537283735	p.Arg512Gln	missense variant	-	NC_000004.12:g.39224939G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1418175737	p.Pro514Thr	missense variant	-	NC_000004.12:g.39224944C>A	gnomAD
rs757229123	p.Pro514Arg	missense variant	-	NC_000004.12:g.39224945C>G	ExAC,gnomAD
rs1163866393	p.Ser516Gly	missense variant	-	NC_000004.12:g.39224950A>G	gnomAD
rs1431300987	p.Lys519Asn	missense variant	-	NC_000004.12:g.39224961G>T	gnomAD
rs1288227814	p.Phe521Leu	missense variant	-	NC_000004.12:g.39224965T>C	gnomAD
rs1339914176	p.Pro522Ser	missense variant	-	NC_000004.12:g.39224968C>T	gnomAD
rs557405566	p.Asp523Tyr	missense variant	-	NC_000004.12:g.39224971G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs557405566	p.Asp523Asn	missense variant	-	NC_000004.12:g.39224971G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs557405566	p.Asp523His	missense variant	-	NC_000004.12:g.39224971G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1335665760	p.Gly526Arg	missense variant	-	NC_000004.12:g.39224980G>A	TOPMed,gnomAD
rs1335665760	p.Gly526Trp	missense variant	-	NC_000004.12:g.39224980G>T	TOPMed,gnomAD
rs1288089064	p.Arg528Ile	missense variant	-	NC_000004.12:g.39224987G>T	gnomAD
NCI-TCGA novel	p.Phe531Ser	missense variant	-	NC_000004.12:g.39224996T>C	NCI-TCGA
rs749672769	p.Ile532Thr	missense variant	-	NC_000004.12:g.39224999T>C	ExAC,TOPMed,gnomAD
rs749672769	p.Ile532Ser	missense variant	-	NC_000004.12:g.39224999T>G	ExAC,TOPMed,gnomAD
RCV000653252	p.Ile532Thr	missense variant	Asphyxiating thoracic dystrophy 5 (SRTD5)	NC_000004.12:g.39224999T>C	ClinVar
rs1381343000	p.Ile532Phe	missense variant	-	NC_000004.12:g.39224998A>T	TOPMed
rs1232457641	p.Asp533Gly	missense variant	-	NC_000004.12:g.39225002A>G	TOPMed
rs748697892	p.Lys535Asn	missense variant	-	NC_000004.12:g.39225009A>T	ExAC,TOPMed,gnomAD
rs115348383	p.Ser536Thr	missense variant	-	NC_000004.12:g.39225011G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000245151	p.Ser536Thr	missense variant	-	NC_000004.12:g.39225011G>C	ClinVar
RCV000756910	p.Ser536Thr	missense variant	-	NC_000004.12:g.39225011G>C	ClinVar
rs773305077	p.Asp537Gly	missense variant	-	NC_000004.12:g.39225014A>G	ExAC,gnomAD
rs760706873	p.Asp537Glu	missense variant	-	NC_000004.12:g.39225015T>A	ExAC,gnomAD
RCV000754959	p.Tyr541Ter	nonsense	Cranioectodermal dysplasia	NC_000004.12:g.39225027C>G	ClinVar
rs771148519	p.Tyr541Ter	stop gained	-	NC_000004.12:g.39225027C>G	ExAC,TOPMed,gnomAD
rs962400149	p.Cys542Gly	missense variant	-	NC_000004.12:g.39225028T>G	TOPMed
rs1402688771	p.Val544Ile	missense variant	-	NC_000004.12:g.39228210G>A	TOPMed
rs754631759	p.Ala547Thr	missense variant	-	NC_000004.12:g.39228219G>A	ExAC,TOPMed,gnomAD
rs370649765	p.Tyr549Cys	missense variant	-	NC_000004.12:g.39228226A>G	ESP,ExAC,TOPMed,gnomAD
rs1159442787	p.Glu550Asp	missense variant	-	NC_000004.12:g.39228230G>T	TOPMed
rs1473310793	p.Ile551Val	missense variant	-	NC_000004.12:g.39228231A>G	TOPMed
rs748466800	p.Ile551Ser	missense variant	-	NC_000004.12:g.39228232T>G	ExAC,gnomAD
rs772600757	p.Thr557Ala	missense variant	-	NC_000004.12:g.39228249A>G	ExAC,gnomAD
rs778188588	p.Ile558Val	missense variant	-	NC_000004.12:g.39228252A>G	ExAC,TOPMed,gnomAD
rs1186805310	p.Lys559Asn	missense variant	-	NC_000004.12:g.39228257A>T	gnomAD
rs1402989175	p.Lys559Thr	missense variant	-	NC_000004.12:g.39228256A>C	gnomAD
rs375777724	p.Gly560Asp	missense variant	-	NC_000004.12:g.39228259G>A	ESP,TOPMed,gnomAD
rs375777724	p.Gly560Val	missense variant	-	NC_000004.12:g.39228259G>T	ESP,TOPMed,gnomAD
rs747105194	p.Pro567Gln	missense variant	-	NC_000004.12:g.39228280C>A	ExAC,gnomAD
COSM300351	p.Asp569Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39228287T>G	NCI-TCGA Cosmic
rs1356548421	p.Gly571Val	missense variant	-	NC_000004.12:g.39228292G>T	gnomAD
rs368249705	p.Val572Ala	missense variant	-	NC_000004.12:g.39228295T>C	ESP,ExAC,gnomAD
rs991130139	p.Ala575Thr	missense variant	-	NC_000004.12:g.39228303G>A	TOPMed
rs776740157	p.Ala575Val	missense variant	-	NC_000004.12:g.39228304C>T	ExAC,gnomAD
rs1237070636	p.Asp577Gly	missense variant	-	NC_000004.12:g.39228310A>G	gnomAD
rs1343665575	p.Asp578Gly	missense variant	-	NC_000004.12:g.39228313A>G	TOPMed,gnomAD
rs1304881787	p.Asp578Asn	missense variant	-	NC_000004.12:g.39228312G>A	gnomAD
rs571678102	p.Asp578Glu	missense variant	-	NC_000004.12:g.39228314T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1198266909	p.Val581Met	missense variant	-	NC_000004.12:g.39228321G>A	gnomAD
rs539697450	p.Tyr582Ter	stop gained	-	NC_000004.12:g.39228326C>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr582Cys	missense variant	-	NC_000004.12:g.39228325A>G	NCI-TCGA
rs1286484497	p.Thr583Ile	missense variant	-	NC_000004.12:g.39228328C>T	TOPMed
NCI-TCGA novel	p.Tyr584His	missense variant	-	NC_000004.12:g.39228330T>C	NCI-TCGA
COSM5067277	p.Phe586Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39228336T>A	NCI-TCGA Cosmic
rs1194187008	p.Lys588Asn	missense variant	-	NC_000004.12:g.39228344G>T	gnomAD
rs1469699848	p.Lys588Glu	missense variant	-	NC_000004.12:g.39228342A>G	gnomAD
rs1340934924	p.Asp589Gly	missense variant	-	NC_000004.12:g.39228346A>G	TOPMed
rs1477727266	p.Ile591Val	missense variant	-	NC_000004.12:g.39228351A>G	TOPMed,gnomAD
rs1170845760	p.Gln592Glu	missense variant	-	NC_000004.12:g.39228354C>G	gnomAD
rs190192706	p.Gln592Leu	missense variant	-	NC_000004.12:g.39228355A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs190192706	p.Gln592Arg	missense variant	-	NC_000004.12:g.39228355A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369439776	p.Gly593Val	missense variant	-	NC_000004.12:g.39228486G>T	ESP,TOPMed
rs1362656117	p.Ala599Ser	missense variant	-	NC_000004.12:g.39228503G>T	TOPMed
rs193273000	p.Ala599Val	missense variant	-	NC_000004.12:g.39228504C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs752404680	p.Ser601Asn	missense variant	-	NC_000004.12:g.39228510G>A	ExAC,gnomAD
rs1336431368	p.Thr602Pro	missense variant	-	NC_000004.12:g.39228512A>C	gnomAD
rs1245108212	p.Val604Leu	missense variant	-	NC_000004.12:g.39228518G>C	TOPMed,gnomAD
rs758042086	p.Val604Ala	missense variant	-	NC_000004.12:g.39228519T>C	ExAC,gnomAD
RCV000722867	p.Val604Ter	frameshift	-	NC_000004.12:g.39228517del	ClinVar
rs1354009138	p.Pro605His	missense variant	-	NC_000004.12:g.39228522C>A	gnomAD
rs764490726	p.Pro605Ser	missense variant	-	NC_000004.12:g.39228521C>T	ExAC
rs1165530025	p.Ala607Thr	missense variant	-	NC_000004.12:g.39228527G>A	TOPMed
rs757734219	p.His608Tyr	missense variant	-	NC_000004.12:g.39228530C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro610His	missense variant	-	NC_000004.12:g.39228537C>A	NCI-TCGA
rs1456800995	p.Leu612Pro	missense variant	-	NC_000004.12:g.39228543T>C	TOPMed
rs780273002	p.Tyr614Cys	missense variant	-	NC_000004.12:g.39228549A>G	ExAC,TOPMed,gnomAD
rs1199671668	p.Glu617Gly	missense variant	-	NC_000004.12:g.39228558A>G	gnomAD
rs1032864793	p.Glu617Gln	missense variant	-	NC_000004.12:g.39228557G>C	TOPMed
rs749558342	p.Leu618Met	missense variant	-	NC_000004.12:g.39228560C>A	ExAC,gnomAD
rs777737446	p.Thr619Asn	missense variant	-	NC_000004.12:g.39228564C>A	ExAC,gnomAD
rs777737446	p.Thr619Ile	missense variant	-	NC_000004.12:g.39228564C>T	ExAC,gnomAD
rs543254396	p.Thr619Pro	missense variant	-	NC_000004.12:g.39228563A>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Cys620Tyr	missense variant	-	NC_000004.12:g.39228567G>A	NCI-TCGA
NCI-TCGA novel	p.Gln623GluPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.39228572_39228573AC>-	NCI-TCGA
NCI-TCGA novel	p.Gln623His	missense variant	-	NC_000004.12:g.39228577G>C	NCI-TCGA
rs1361792881	p.Gln623Glu	missense variant	-	NC_000004.12:g.39228575C>G	gnomAD
rs776575862	p.Lys626Arg	missense variant	-	NC_000004.12:g.39228585A>G	ExAC,gnomAD
rs759379989	p.Asn629Thr	missense variant	-	NC_000004.12:g.39228594A>C	ExAC,TOPMed,gnomAD
rs759379989	p.Asn629Ile	missense variant	-	NC_000004.12:g.39228594A>T	ExAC,TOPMed,gnomAD
rs769361577	p.Ile630Val	missense variant	-	NC_000004.12:g.39228596A>G	ExAC,gnomAD
rs774951735	p.Leu632Arg	missense variant	-	NC_000004.12:g.39228603T>G	ExAC,TOPMed,gnomAD
rs763696990	p.His635Arg	missense variant	-	NC_000004.12:g.39228612A>G	ExAC,gnomAD
rs150649460	p.Ser639Gly	missense variant	-	NC_000004.12:g.39228623A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150649460	p.Ser639Arg	missense variant	-	NC_000004.12:g.39228623A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000653249	p.Ser639Gly	missense variant	Asphyxiating thoracic dystrophy 5 (SRTD5)	NC_000004.12:g.39228623A>G	ClinVar
rs1214396519	p.Asp643Gly	missense variant	-	NC_000004.12:g.39228636A>G	gnomAD
rs767757561	p.Asp643His	missense variant	-	NC_000004.12:g.39228635G>C	ExAC,gnomAD
rs767757561	p.Asp643Asn	missense variant	-	NC_000004.12:g.39228635G>A	ExAC,gnomAD
rs767757561	p.Asp643Tyr	missense variant	-	NC_000004.12:g.39228635G>T	ExAC,gnomAD
rs756543710	p.Gly645Arg	missense variant	-	NC_000004.12:g.39228641G>A	ExAC,gnomAD
rs1201245697	p.Gly645Glu	missense variant	-	NC_000004.12:g.39228642G>A	gnomAD
rs1248776234	p.Asp647Asn	missense variant	-	NC_000004.12:g.39228647G>A	gnomAD
COSM1055200	p.Asp647Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39228648A>G	NCI-TCGA Cosmic
rs377367588	p.Glu648Lys	missense variant	-	NC_000004.12:g.39228650G>A	ESP,ExAC,TOPMed,gnomAD
rs746795141	p.Met652Ile	missense variant	-	NC_000004.12:g.39228664G>C	ExAC,TOPMed,gnomAD
rs779213986	p.Met652Val	missense variant	-	NC_000004.12:g.39228662A>G	ExAC,gnomAD
rs1024499799	p.Ala654Thr	missense variant	-	NC_000004.12:g.39228668G>A	TOPMed,gnomAD
COSM4124570	p.Ala654Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39228669C>T	NCI-TCGA Cosmic
rs1365574205	p.Met658Ile	missense variant	-	NC_000004.12:g.39228682G>A	TOPMed
rs1422106867	p.Phe662Ser	missense variant	-	NC_000004.12:g.39231799T>C	TOPMed
rs753976268	p.Ala665Thr	missense variant	-	NC_000004.12:g.39231807G>A	ExAC,TOPMed,gnomAD
rs755055037	p.Ala665Val	missense variant	-	NC_000004.12:g.39231808C>T	ExAC,TOPMed,gnomAD
rs753976268	p.Ala665Pro	missense variant	-	NC_000004.12:g.39231807G>C	ExAC,TOPMed,gnomAD
rs1386170837	p.Glu667Lys	missense variant	-	NC_000004.12:g.39231813G>A	gnomAD
NCI-TCGA novel	p.Glu667Asp	missense variant	-	NC_000004.12:g.39231815A>C	NCI-TCGA
rs765219782	p.Met668Ile	missense variant	-	NC_000004.12:g.39231818G>A	ExAC,gnomAD
rs753029687	p.Cys669Tyr	missense variant	-	NC_000004.12:g.39231820G>A	ExAC,gnomAD
rs1432446286	p.Arg670Gly	missense variant	-	NC_000004.12:g.39231822A>G	gnomAD
rs781091537	p.Asn673Ser	missense variant	-	NC_000004.12:g.39231832A>G	ExAC,gnomAD
rs1489151373	p.Asp674Asn	missense variant	-	NC_000004.12:g.39231834G>A	TOPMed
rs756047632	p.Glu675Gly	missense variant	-	NC_000004.12:g.39231838A>G	ExAC,gnomAD
rs1191124227	p.Glu680Lys	missense variant	-	NC_000004.12:g.39231852G>A	gnomAD
NCI-TCGA novel	p.Glu680Ter	stop gained	-	NC_000004.12:g.39231852G>T	NCI-TCGA
rs1264582286	p.Arg683Thr	missense variant	-	NC_000004.12:g.39231862G>C	TOPMed,gnomAD
rs368336762	p.Cys685Ter	stop gained	-	NC_000004.12:g.39231869T>A	ESP,ExAC,TOPMed,gnomAD
rs768218455	p.Leu686Pro	missense variant	-	NC_000004.12:g.39231871T>C	ExAC,TOPMed,gnomAD
rs1463759165	p.His687Arg	missense variant	-	NC_000004.12:g.39231874A>G	gnomAD
rs1166777787	p.His688Tyr	missense variant	-	NC_000004.12:g.39231876C>T	gnomAD
rs780879248	p.Met689Thr	missense variant	-	NC_000004.12:g.39231880T>C	ExAC,TOPMed
rs1350259300	p.Met689Val	missense variant	-	NC_000004.12:g.39231879A>G	gnomAD
rs1312676134	p.Ile695Ser	missense variant	-	NC_000004.12:g.39231898T>G	TOPMed
rs747881116	p.Arg696His	missense variant	-	NC_000004.12:g.39231901G>A	ExAC,TOPMed,gnomAD
rs916752399	p.Arg696Cys	missense variant	-	NC_000004.12:g.39231900C>T	gnomAD
rs771578426	p.Val697Phe	missense variant	-	NC_000004.12:g.39231903G>T	ExAC,gnomAD
rs370948119	p.Tyr698Ser	missense variant	-	NC_000004.12:g.39231907A>C	ESP,ExAC,TOPMed,gnomAD
rs886042728	p.Arg699Trp	missense variant	-	NC_000004.12:g.39231909C>T	TOPMed
RCV000525665	p.Arg699Gln	missense variant	Asphyxiating thoracic dystrophy 5 (SRTD5)	NC_000004.12:g.39231910G>A	ClinVar
RCV000271694	p.Arg699Trp	missense variant	-	NC_000004.12:g.39231909C>T	ClinVar
rs138529452	p.Arg699Gln	missense variant	-	NC_000004.12:g.39231910G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg700Ile	missense variant	-	NC_000004.12:g.39231913G>T	NCI-TCGA
rs1340059722	p.Ile701Thr	missense variant	-	NC_000004.12:g.39231916T>C	gnomAD
rs767010534	p.Gly702Ala	missense variant	-	NC_000004.12:g.39231919G>C	ExAC
rs920681156	p.Asn703Ser	missense variant	-	NC_000004.12:g.39231922A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Ser709Phe	missense variant	-	NC_000004.12:g.39231940C>T	NCI-TCGA
rs387906980	p.Leu710Ser	missense variant	Cranioectodermal dysplasia 4 (ced4)	NC_000004.12:g.39231943T>C	ExAC,TOPMed,gnomAD
rs387906980	p.Leu710Ser	missense variant	Senior-Loken syndrome 8 (SLSN8)	NC_000004.12:g.39231943T>C	UniProt,dbSNP
VAR_067314	p.Leu710Ser	missense variant	Senior-Loken syndrome 8 (SLSN8)	NC_000004.12:g.39231943T>C	UniProt
RCV000023681	p.Leu710Ser	missense variant	Cranioectodermal dysplasia 4 (CED4)	NC_000004.12:g.39231943T>C	ClinVar
RCV000169775	p.Leu710Ser	missense variant	Senior-Loken syndrome 8 (SLSN8)	NC_000004.12:g.39231943T>C	ClinVar
rs778504493	p.Gly715Glu	missense variant	-	NC_000004.12:g.39232163G>A	ExAC,gnomAD
rs1379087804	p.Ile716Val	missense variant	-	NC_000004.12:g.39232165A>G	TOPMed
rs1160646114	p.Glu717Gln	missense variant	-	NC_000004.12:g.39232168G>C	gnomAD
rs1052381805	p.Asp718Asn	missense variant	-	NC_000004.12:g.39232171G>A	TOPMed
rs1250749947	p.Tyr719His	missense variant	-	NC_000004.12:g.39232174T>C	TOPMed
rs772687020	p.Asn720Ser	missense variant	-	NC_000004.12:g.39232178A>G	ExAC,TOPMed,gnomAD
COSM1055201	p.Leu721Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39232180C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala723Thr	missense variant	-	NC_000004.12:g.39232186G>A	NCI-TCGA
NCI-TCGA novel	p.Leu726Pro	missense variant	-	NC_000004.12:g.39232196T>C	NCI-TCGA
rs1218489974	p.Met728Val	missense variant	-	NC_000004.12:g.39232201A>G	TOPMed
rs1381969257	p.Phe729Leu	missense variant	-	NC_000004.12:g.39232204T>C	gnomAD
rs1157984983	p.Thr730Ile	missense variant	-	NC_000004.12:g.39232208C>T	gnomAD
rs777105752	p.Asn731Ser	missense variant	-	NC_000004.12:g.39232211A>G	ExAC,gnomAD
rs771489672	p.Asn731Asp	missense variant	-	NC_000004.12:g.39232210A>G	ExAC,gnomAD
rs765614115	p.Asp732Asn	missense variant	-	NC_000004.12:g.39232213G>A	ExAC,TOPMed,gnomAD
rs1231522177	p.Asp732Glu	missense variant	-	NC_000004.12:g.39232215T>G	TOPMed
rs892296811	p.Asn734Ser	missense variant	-	NC_000004.12:g.39232220A>G	TOPMed
rs1379598044	p.Leu735Pro	missense variant	-	NC_000004.12:g.39232223T>C	gnomAD
rs775642065	p.Ala736Thr	missense variant	-	NC_000004.12:g.39232225G>A	ExAC,gnomAD
rs1350826986	p.Gln737Glu	missense variant	-	NC_000004.12:g.39232228C>G	gnomAD
NCI-TCGA novel	p.Asp738Glu	missense variant	-	NC_000004.12:g.39232233C>A	NCI-TCGA
rs1307951215	p.Asp738Val	missense variant	-	NC_000004.12:g.39232232A>T	TOPMed
rs886059399	p.Tyr740His	missense variant	-	NC_000004.12:g.39232237T>C	-
RCV000402053	p.Tyr740His	missense variant	Cranioectodermal dysplasia	NC_000004.12:g.39232237T>C	ClinVar
RCV000311239	p.Tyr740His	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39232237T>C	ClinVar
rs764220156	p.Leu741Phe	missense variant	-	NC_000004.12:g.39232240C>T	ExAC,gnomAD
rs751845942	p.Ala742Val	missense variant	-	NC_000004.12:g.39232244C>T	ExAC,gnomAD
rs576849289	p.Ser744Gly	missense variant	-	NC_000004.12:g.39232249A>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ser744Arg	missense variant	-	NC_000004.12:g.39232251C>A	NCI-TCGA
rs372232320	p.Pro746Ser	missense variant	-	NC_000004.12:g.39232255C>T	ESP,TOPMed
rs144335584	p.Ile747Val	missense variant	-	NC_000004.12:g.39232258A>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000542232	p.Ile747Val	missense variant	Asphyxiating thoracic dystrophy 5 (SRTD5)	NC_000004.12:g.39232258A>G	ClinVar
rs1170632040	p.Glu751Asp	missense variant	-	NC_000004.12:g.39232272G>T	TOPMed
rs778651224	p.Glu751Gly	missense variant	-	NC_000004.12:g.39232271A>G	ExAC,gnomAD
rs1247355854	p.Met752Lys	missense variant	-	NC_000004.12:g.39234767T>A	gnomAD
rs1477781128	p.Arg754Lys	missense variant	-	NC_000004.12:g.39234773G>A	gnomAD
rs976523838	p.Arg754Ser	missense variant	-	NC_000004.12:g.39234774G>T	TOPMed,gnomAD
rs1426110472	p.Asp755Asn	missense variant	-	NC_000004.12:g.39234775G>A	TOPMed,gnomAD
rs374846363	p.Gln757Ter	stop gained	-	NC_000004.12:g.39234781C>T	ESP,ExAC,gnomAD
rs577133819	p.His758Asn	missense variant	-	NC_000004.12:g.39234784C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1362554183	p.Trp759Gly	missense variant	-	NC_000004.12:g.39234787T>G	TOPMed
rs978366659	p.Trp759Ter	stop gained	-	NC_000004.12:g.39234788G>A	TOPMed,gnomAD
rs1329996681	p.Ser761Gly	missense variant	-	NC_000004.12:g.39234793A>G	gnomAD
rs774388282	p.Ala762Val	missense variant	-	NC_000004.12:g.39234797C>T	ExAC,gnomAD
rs1475702302	p.Leu763Ile	missense variant	-	NC_000004.12:g.39234799C>A	TOPMed
rs1340705825	p.Gln764His	missense variant	-	NC_000004.12:g.39234804A>T	gnomAD
rs1249345016	p.Pro771Leu	missense variant	-	NC_000004.12:g.39234824C>T	TOPMed,gnomAD
rs1358279706	p.Asp772Glu	missense variant	-	NC_000004.12:g.39234828C>G	gnomAD
NCI-TCGA novel	p.Asp772Tyr	missense variant	-	NC_000004.12:g.39234826G>T	NCI-TCGA
COSM1485945	p.Asp772Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39234828C>A	NCI-TCGA Cosmic
rs762043395	p.Ile774Leu	missense variant	-	NC_000004.12:g.39234832A>T	ExAC,TOPMed,gnomAD
rs762043395	p.Ile774Val	missense variant	-	NC_000004.12:g.39234832A>G	ExAC,TOPMed,gnomAD
rs767684356	p.Pro775Thr	missense variant	-	NC_000004.12:g.39234835C>A	ExAC,TOPMed,gnomAD
rs767684356	p.Pro775Ser	missense variant	-	NC_000004.12:g.39234835C>T	ExAC,TOPMed,gnomAD
rs373737104	p.Ile777Val	missense variant	-	NC_000004.12:g.39234841A>G	ESP,ExAC,TOPMed,gnomAD
rs545547031	p.Ser778Thr	missense variant	-	NC_000004.12:g.39234844T>A	1000Genomes
rs1265464277	p.Lys779Glu	missense variant	-	NC_000004.12:g.39234847A>G	gnomAD
rs765071434	p.Glu780Lys	missense variant	-	NC_000004.12:g.39234850G>A	ExAC,gnomAD
rs752647027	p.Tyr781His	missense variant	-	NC_000004.12:g.39234853T>C	ExAC
rs1055716143	p.Ile783Val	missense variant	-	NC_000004.12:g.39234859A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Phe787Leu	missense variant	-	NC_000004.12:g.39234873C>A	NCI-TCGA
rs867487924	p.Ala788Val	missense variant	-	NC_000004.12:g.39234875C>T	TOPMed,gnomAD
rs768082694	p.Ala788Thr	missense variant	-	NC_000004.12:g.39234874G>A	ExAC,TOPMed,gnomAD
rs199904529	p.Gly789Cys	missense variant	-	NC_000004.12:g.39240278G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1488689475	p.Gly789Val	missense variant	-	NC_000004.12:g.39240279G>T	TOPMed,gnomAD
rs199904529	p.Gly789Ser	missense variant	-	NC_000004.12:g.39240278G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000274698	p.Gly789Ser	missense variant	-	NC_000004.12:g.39240278G>A	ClinVar
rs1259960078	p.Val792Leu	missense variant	-	NC_000004.12:g.39240287G>T	gnomAD
rs1188633968	p.Asn793Thr	missense variant	-	NC_000004.12:g.39240291A>C	TOPMed,gnomAD
rs780435361	p.Asn793Asp	missense variant	-	NC_000004.12:g.39240290A>G	ExAC,TOPMed,gnomAD
rs780435361	p.Asn793His	missense variant	-	NC_000004.12:g.39240290A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala794Val	missense variant	-	NC_000004.12:g.39240294C>T	NCI-TCGA
rs187332731	p.Ala796Thr	missense variant	-	NC_000004.12:g.39240299G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1430090396	p.His797Tyr	missense variant	-	NC_000004.12:g.39240302C>T	TOPMed
rs761816896	p.Tyr798His	missense variant	-	NC_000004.12:g.39240305T>C	ExAC,gnomAD
rs889317966	p.Glu799Lys	missense variant	-	NC_000004.12:g.39240308G>A	TOPMed,gnomAD
rs1418611339	p.Lys800Glu	missense variant	-	NC_000004.12:g.39240311A>G	gnomAD
NCI-TCGA novel	p.Gly801Ter	stop gained	-	NC_000004.12:g.39240314G>T	NCI-TCGA
rs772297321	p.Ile802Lys	missense variant	-	NC_000004.12:g.39240318T>A	ExAC,gnomAD
rs1403846203	p.Thr803Arg	missense variant	-	NC_000004.12:g.39240321C>G	gnomAD
rs773485387	p.Asp805Asn	missense variant	-	NC_000004.12:g.39240326G>A	ExAC,TOPMed,gnomAD
rs1466177980	p.Glu808Asp	missense variant	-	NC_000004.12:g.39244250A>C	gnomAD
rs1403624957	p.His809Arg	missense variant	-	NC_000004.12:g.39244252A>G	gnomAD
rs780300357	p.His809Tyr	missense variant	-	NC_000004.12:g.39244251C>T	ExAC,TOPMed,gnomAD
rs1375996391	p.Asp810Glu	missense variant	-	NC_000004.12:g.39244256T>G	TOPMed,gnomAD
rs1168307194	p.Asp810Tyr	missense variant	-	NC_000004.12:g.39244254G>T	TOPMed
RCV000358029	p.Asp810Gly	missense variant	Cranioectodermal dysplasia	NC_000004.12:g.39244255A>G	ClinVar
RCV000265585	p.Asp810Gly	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39244255A>G	ClinVar
rs886059400	p.Asp810Gly	missense variant	-	NC_000004.12:g.39244255A>G	gnomAD
rs1389610954	p.Gly816Arg	missense variant	-	NC_000004.12:g.39244272G>A	gnomAD
rs749621367	p.Val817Glu	missense variant	-	NC_000004.12:g.39244276T>A	ExAC,TOPMed,gnomAD
rs779337768	p.Gln819Lys	missense variant	-	NC_000004.12:g.39244281C>A	ExAC,TOPMed,gnomAD
rs1262800597	p.Met820Ile	missense variant	-	NC_000004.12:g.39244286G>A	gnomAD
rs772209666	p.Ile822Met	missense variant	-	NC_000004.12:g.39244292A>G	ExAC,TOPMed,gnomAD
rs138364911	p.Ile822Val	missense variant	-	NC_000004.12:g.39244290A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs138364911	p.Ile822Leu	missense variant	-	NC_000004.12:g.39244290A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1259149644	p.Arg823Gly	missense variant	-	NC_000004.12:g.39244293A>G	gnomAD
rs1175997746	p.Met824Ile	missense variant	-	NC_000004.12:g.39244298G>A	TOPMed,gnomAD
rs1480552569	p.Met824Val	missense variant	-	NC_000004.12:g.39244296A>G	gnomAD
rs773315219	p.Gly825Ala	missense variant	-	NC_000004.12:g.39244300G>C	ExAC,gnomAD
COSM481242	p.Asp826Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39244304C>A	NCI-TCGA Cosmic
rs747244934	p.Ile827Arg	missense variant	-	NC_000004.12:g.39244306T>G	ExAC
rs1211391439	p.Arg828Cys	missense variant	-	NC_000004.12:g.39244308C>T	TOPMed
rs771137155	p.Arg828His	missense variant	-	NC_000004.12:g.39244309G>A	ExAC,gnomAD
rs375285886	p.Arg829Gln	missense variant	-	NC_000004.12:g.39244312G>A	ESP,TOPMed,gnomAD
rs775181779	p.Arg829Gly	missense variant	-	NC_000004.12:g.39244311C>G	ExAC,TOPMed,gnomAD
COSM1055204	p.Arg829Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.39244311C>T	NCI-TCGA Cosmic
rs1399293853	p.Gly830Glu	missense variant	-	NC_000004.12:g.39244315G>A	gnomAD
rs762744592	p.Gly830Arg	missense variant	-	NC_000004.12:g.39244314G>A	ExAC,gnomAD
rs934792994	p.Val831Ala	missense variant	-	NC_000004.12:g.39244318T>C	TOPMed,gnomAD
rs774495631	p.Ala834Thr	missense variant	-	NC_000004.12:g.39244326G>A	ExAC,gnomAD
rs376711429	p.Leu835Val	missense variant	-	NC_000004.12:g.39244329C>G	ESP,TOPMed
rs371545746	p.Lys836Gln	missense variant	-	NC_000004.12:g.39244332A>C	ESP,ExAC,gnomAD
rs1241843175	p.Lys836Arg	missense variant	-	NC_000004.12:g.39244333A>G	TOPMed
COSM4398448	p.Pro838Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39244338C>T	NCI-TCGA Cosmic
rs1349223638	p.Val841Ile	missense variant	-	NC_000004.12:g.39244347G>A	TOPMed
NCI-TCGA novel	p.Leu842Ile	missense variant	-	NC_000004.12:g.39244350C>A	NCI-TCGA
rs749895221	p.Cys846Trp	missense variant	-	NC_000004.12:g.39244364T>G	ExAC,gnomAD
rs1053031414	p.Cys846Tyr	missense variant	-	NC_000004.12:g.39244363G>A	TOPMed,gnomAD
rs893172558	p.Ala848Val	missense variant	-	NC_000004.12:g.39244369C>T	TOPMed,gnomAD
rs755749646	p.Ile849Met	missense variant	-	NC_000004.12:g.39244373A>G	ExAC,gnomAD
rs1332458650	p.Glu851Asp	missense variant	-	NC_000004.12:g.39244379G>T	TOPMed
rs765986147	p.Asn852Ser	missense variant	-	NC_000004.12:g.39244381A>G	ExAC,gnomAD
rs771801929	p.Met853Thr	missense variant	-	NC_000004.12:g.39244384T>C	TOPMed
rs1408848853	p.Lys854Gln	missense variant	-	NC_000004.12:g.39244386A>C	TOPMed
rs1203025739	p.Lys854Asn	missense variant	-	NC_000004.12:g.39244388G>T	gnomAD
rs772599282	p.Gln855Ter	stop gained	-	NC_000004.12:g.39244470C>T	ExAC,TOPMed,gnomAD
RCV000515874	p.Gln855Ter	nonsense	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39244470C>T	ClinVar
rs897076709	p.Ser857Ter	stop gained	-	NC_000004.12:g.39244477C>G	TOPMed
rs1241209326	p.Ala859Val	missense variant	-	NC_000004.12:g.39244483C>T	TOPMed,gnomAD
rs1414268971	p.Leu862Pro	missense variant	-	NC_000004.12:g.39244492T>C	gnomAD
rs1297312397	p.Tyr863Cys	missense variant	-	NC_000004.12:g.39244495A>G	gnomAD
rs765643216	p.Glu864Gly	missense variant	-	NC_000004.12:g.39244498A>G	ExAC,gnomAD
rs1383452852	p.Lys865Asn	missense variant	-	NC_000004.12:g.39244502A>C	gnomAD
rs753011624	p.Leu867Val	missense variant	-	NC_000004.12:g.39244506C>G	ExAC,TOPMed
NCI-TCGA novel	p.Leu867Ile	missense variant	-	NC_000004.12:g.39244506C>A	NCI-TCGA
rs1306179404	p.Tyr868Cys	missense variant	-	NC_000004.12:g.39244510A>G	gnomAD
rs202129445	p.Tyr869Cys	missense variant	-	NC_000004.12:g.39244513A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs201963605	p.Asp870Asn	missense variant	-	NC_000004.12:g.39244515G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000486591	p.Asp870Asn	missense variant	-	NC_000004.12:g.39244515G>A	ClinVar
rs781099499	p.Lys871Gln	missense variant	-	NC_000004.12:g.39244518A>C	ExAC,gnomAD
rs746141233	p.Ala873Val	missense variant	-	NC_000004.12:g.39244525C>T	ExAC,gnomAD
COSM4929103	p.Ala873Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39244524G>T	NCI-TCGA Cosmic
rs1355202966	p.Val875Ile	missense variant	-	NC_000004.12:g.39244530G>A	gnomAD
rs1240185188	p.Val875Ala	missense variant	-	NC_000004.12:g.39244531T>C	gnomAD
NCI-TCGA novel	p.Tyr876Cys	missense variant	-	NC_000004.12:g.39244534A>G	NCI-TCGA
rs770091572	p.Arg878Gly	missense variant	-	NC_000004.12:g.39244539C>G	ExAC,TOPMed,gnomAD
rs369494725	p.Arg878His	missense variant	-	NC_000004.12:g.39244540G>A	ESP,ExAC,TOPMed,gnomAD
rs770091572	p.Arg878Cys	missense variant	-	NC_000004.12:g.39244539C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys880Asn	missense variant	-	NC_000004.12:g.39244547G>T	NCI-TCGA
NCI-TCGA novel	p.Lys880Glu	missense variant	-	NC_000004.12:g.39244545A>G	NCI-TCGA
rs1190496124	p.Asn881Ser	missense variant	-	NC_000004.12:g.39244549A>G	TOPMed
rs1328854619	p.Ala883Glu	missense variant	-	NC_000004.12:g.39245371C>A	gnomAD
rs1352225369	p.Lys884Thr	missense variant	-	NC_000004.12:g.39245374A>C	gnomAD
COSM447830	p.Gly886Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39245380G>T	NCI-TCGA Cosmic
rs747019863	p.Asp887Asn	missense variant	-	NC_000004.12:g.39245382G>A	ExAC,gnomAD
rs1346537581	p.Asp887Val	missense variant	-	NC_000004.12:g.39245383A>T	TOPMed
rs770729864	p.Leu888Ile	missense variant	-	NC_000004.12:g.39245385C>A	ExAC,gnomAD
rs776150299	p.Leu889Val	missense variant	-	NC_000004.12:g.39245388C>G	ExAC,gnomAD
rs1231847370	p.Pro890Leu	missense variant	-	NC_000004.12:g.39245392C>T	TOPMed
rs1318406101	p.Pro890Ser	missense variant	-	NC_000004.12:g.39245391C>T	gnomAD
rs775183048	p.His891Arg	missense variant	-	NC_000004.12:g.39245395A>G	ExAC,gnomAD
rs753954843	p.His891Gln	missense variant	-	NC_000004.12:g.39245396C>A	ExAC,TOPMed,gnomAD
rs200266424	p.His891Tyr	missense variant	-	NC_000004.12:g.39245394C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His891ThrPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.39245391C>-	NCI-TCGA
RCV000756917	p.His891Tyr	missense variant	-	NC_000004.12:g.39245394C>T	ClinVar
rs551049157	p.Val892Leu	missense variant	-	NC_000004.12:g.39245397G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs551049157	p.Val892Ile	missense variant	-	NC_000004.12:g.39245397G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM3736829	p.Ser893Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39245401C>T	NCI-TCGA Cosmic
rs774529884	p.Pro895Arg	missense variant	-	NC_000004.12:g.39245407C>G	ExAC,gnomAD
COSM3603571	p.Pro895Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39245406C>T	NCI-TCGA Cosmic
rs762413629	p.Ile897Met	missense variant	-	NC_000004.12:g.39245414C>G	ExAC,gnomAD
rs750540552	p.His898Tyr	missense variant	-	NC_000004.12:g.39245415C>T	ExAC,gnomAD
rs956177833	p.Gln900Arg	missense variant	-	NC_000004.12:g.39245422A>G	TOPMed,gnomAD
rs1426232037	p.Tyr901His	missense variant	-	NC_000004.12:g.39245424T>C	gnomAD
rs76326086	p.Tyr901Cys	missense variant	-	NC_000004.12:g.39245425A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1170942899	p.Ala902Ser	missense variant	-	NC_000004.12:g.39245427G>T	TOPMed
rs1394903886	p.Lys903Asn	missense variant	-	NC_000004.12:g.39245432A>C	gnomAD
rs1407602801	p.Ala904Thr	missense variant	-	NC_000004.12:g.39245433G>A	TOPMed,gnomAD
COSM1055205	p.Ala904Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39245434C>T	NCI-TCGA Cosmic
rs201967816	p.Ala907Val	missense variant	-	NC_000004.12:g.39245443C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs567839628	p.Asp908His	missense variant	-	NC_000004.12:g.39245445G>C	1000Genomes,TOPMed,gnomAD
COSM4124571	p.Arg910Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39253146A>C	NCI-TCGA Cosmic
rs1351587544	p.Lys912Glu	missense variant	-	NC_000004.12:g.39253150A>G	gnomAD
rs766616967	p.Ala914Asp	missense variant	-	NC_000004.12:g.39253157C>A	ExAC,gnomAD
rs183029614	p.Val915Leu	missense variant	-	NC_000004.12:g.39253159G>C	1000Genomes,ExAC,gnomAD
rs1184718042	p.Val915Ala	missense variant	-	NC_000004.12:g.39253160T>C	gnomAD
rs1243020744	p.Val916Ile	missense variant	-	NC_000004.12:g.39253162G>A	gnomAD
rs1363895381	p.Gln925Pro	missense variant	-	NC_000004.12:g.39253190A>C	gnomAD
rs751386429	p.Ser926Ile	missense variant	-	NC_000004.12:g.39253193G>T	ExAC,gnomAD
RCV000171376	p.Ser926Ile	missense variant	-	NC_000004.12:g.39253193G>T	ClinVar
rs751386429	p.Ser926Asn	missense variant	-	NC_000004.12:g.39253193G>A	ExAC,gnomAD
rs757105603	p.Val927Ile	missense variant	-	NC_000004.12:g.39253195G>A	ExAC,TOPMed,gnomAD
rs780963454	p.Ile928Phe	missense variant	-	NC_000004.12:g.39253198A>T	ExAC,gnomAD
RCV000375381	p.Ile928Phe	missense variant	Cranioectodermal dysplasia	NC_000004.12:g.39253198A>T	ClinVar
RCV000318476	p.Ile928Phe	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39253198A>T	ClinVar
rs201685269	p.Arg929His	missense variant	-	NC_000004.12:g.39253202G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1470166429	p.Arg929Cys	missense variant	-	NC_000004.12:g.39253201C>T	TOPMed,gnomAD
rs935642323	p.Ile930Thr	missense variant	-	NC_000004.12:g.39253205T>C	gnomAD
RCV000154140	p.Tyr931Ser	missense variant	-	NC_000004.12:g.39253208A>C	ClinVar
rs187546086	p.Tyr931Ser	missense variant	-	NC_000004.12:g.39253208A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs779568147	p.Leu932Val	missense variant	-	NC_000004.12:g.39253210C>G	ExAC,gnomAD
rs1336488796	p.Asp933Asn	missense variant	-	NC_000004.12:g.39253213G>A	gnomAD
rs748675700	p.Asn936Ser	missense variant	-	NC_000004.12:g.39253223A>G	ExAC,TOPMed,gnomAD
rs1259224820	p.Glu939Ala	missense variant	-	NC_000004.12:g.39253232A>C	TOPMed,gnomAD
NCI-TCGA novel	p.Glu939Gly	missense variant	-	NC_000004.12:g.39253232A>G	NCI-TCGA
NCI-TCGA novel	p.Ala941Thr	missense variant	-	NC_000004.12:g.39253237G>A	NCI-TCGA
NCI-TCGA novel	p.Ala941Val	missense variant	-	NC_000004.12:g.39253238C>T	NCI-TCGA
rs1243183398	p.Asn943Asp	missense variant	-	NC_000004.12:g.39253243A>G	TOPMed
rs778487491	p.Asn943Ser	missense variant	-	NC_000004.12:g.39253244A>G	ExAC,TOPMed,gnomAD
rs778487491	p.Asn943Thr	missense variant	-	NC_000004.12:g.39253244A>C	ExAC,TOPMed,gnomAD
rs1262914674	p.Ile944Ser	missense variant	-	NC_000004.12:g.39253247T>G	gnomAD
RCV000731748	p.Ile944Ter	frameshift	-	NC_000004.12:g.39253246_39253282del	ClinVar
rs747830344	p.Val945Phe	missense variant	-	NC_000004.12:g.39253249G>T	ExAC,TOPMed,gnomAD
rs747830344	p.Val945Ile	missense variant	-	NC_000004.12:g.39253249G>A	ExAC,TOPMed,gnomAD
COSM3825816	p.Arg946Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39253253G>C	NCI-TCGA Cosmic
rs932260612	p.Gln949Ter	stop gained	-	NC_000004.12:g.39253261C>T	TOPMed
rs1317776615	p.Gln949His	missense variant	-	NC_000004.12:g.39253263G>C	TOPMed
NCI-TCGA novel	p.Ser950Tyr	missense variant	-	NC_000004.12:g.39253265C>A	NCI-TCGA
COSM1429607	p.Ser950Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39253264T>A	NCI-TCGA Cosmic
rs1179525560	p.Leu951Arg	missense variant	-	NC_000004.12:g.39253268T>G	gnomAD
rs772603713	p.Gly953Arg	missense variant	-	NC_000004.12:g.39253273G>A	ExAC,gnomAD
rs1239942540	p.Met956Thr	missense variant	-	NC_000004.12:g.39253283T>C	gnomAD
rs1057523257	p.Ala958Thr	missense variant	-	NC_000004.12:g.39253288G>A	TOPMed,gnomAD
rs1179202624	p.Ala958Val	missense variant	-	NC_000004.12:g.39253289C>T	TOPMed,gnomAD
RCV000417853	p.Ala958Thr	missense variant	-	NC_000004.12:g.39253288G>A	ClinVar
rs747806533	p.Arg959Ser	missense variant	-	NC_000004.12:g.39253906G>T	ExAC,gnomAD
rs1171033092	p.Phe960Leu	missense variant	-	NC_000004.12:g.39253909T>G	gnomAD
rs1372390276	p.Leu962Gln	missense variant	-	NC_000004.12:g.39253914T>A	gnomAD
rs1460409474	p.Gln963Lys	missense variant	-	NC_000004.12:g.39253916C>A	gnomAD
rs1367593926	p.Leu964Ile	missense variant	-	NC_000004.12:g.39253919C>A	gnomAD
rs778314721	p.Gly965Val	missense variant	-	NC_000004.12:g.39253923G>T	ExAC,TOPMed,gnomAD
rs747311068	p.Tyr967Phe	missense variant	-	NC_000004.12:g.39253929A>T	ExAC,TOPMed,gnomAD
rs747311068	p.Tyr967Cys	missense variant	-	NC_000004.12:g.39253929A>G	ExAC,TOPMed,gnomAD
rs1296775475	p.Gly968Glu	missense variant	-	NC_000004.12:g.39253932G>A	TOPMed,gnomAD
rs771583357	p.Ala970Val	missense variant	-	NC_000004.12:g.39253938C>T	ExAC,TOPMed,gnomAD
rs1225892978	p.Gln972Ter	stop gained	-	NC_000004.12:g.39253943C>T	gnomAD
NCI-TCGA novel	p.Leu974Val	missense variant	-	NC_000004.12:g.39253949C>G	NCI-TCGA
rs777066512	p.Val975Ile	missense variant	-	NC_000004.12:g.39253952G>A	ExAC,gnomAD
rs1221235875	p.Met976Ile	missense variant	-	NC_000004.12:g.39253957G>A	gnomAD
rs1266391176	p.Asn980Ile	missense variant	-	NC_000004.12:g.39253968A>T	gnomAD
rs1266391176	p.Asn980Ser	missense variant	-	NC_000004.12:g.39253968A>G	gnomAD
rs1228825144	p.Asn981Lys	missense variant	-	NC_000004.12:g.39253972T>G	TOPMed
rs1486655648	p.Asn981His	missense variant	-	NC_000004.12:g.39253970A>C	gnomAD
rs760087826	p.Asn981Ser	missense variant	-	NC_000004.12:g.39253971A>G	ExAC,gnomAD
rs923164828	p.Glu982Gly	missense variant	-	NC_000004.12:g.39253974A>G	TOPMed
rs1293022423	p.Ala983Val	missense variant	-	NC_000004.12:g.39253977C>T	TOPMed
NCI-TCGA novel	p.Ala983Thr	missense variant	-	NC_000004.12:g.39253976G>A	NCI-TCGA
rs769807270	p.Thr985Lys	missense variant	-	NC_000004.12:g.39253983C>A	ExAC,TOPMed,gnomAD
rs1426648295	p.Gln988Glu	missense variant	-	NC_000004.12:g.39253991C>G	gnomAD
rs763190830	p.Asn991Ser	missense variant	-	NC_000004.12:g.39254001A>G	ExAC,TOPMed,gnomAD
rs1387129500	p.Asn991His	missense variant	-	NC_000004.12:g.39254000A>C	gnomAD
rs764231106	p.Lys992Gln	missense variant	-	NC_000004.12:g.39254003A>C	ExAC,gnomAD
rs750227475	p.Met993Lys	missense variant	-	NC_000004.12:g.39254007T>A	ExAC,gnomAD
rs1289762811	p.Met993Ile	missense variant	-	NC_000004.12:g.39254008G>A	gnomAD
rs377060728	p.Tyr996Cys	missense variant	-	NC_000004.12:g.39254016A>G	ESP,ExAC,TOPMed,gnomAD
rs1381022232	p.Ala997Glu	missense variant	-	NC_000004.12:g.39254019C>A	gnomAD
rs1317827006	p.Ile999Val	missense variant	-	NC_000004.12:g.39254024A>G	gnomAD
rs915222156	p.Glu1003Lys	missense variant	-	NC_000004.12:g.39255853G>A	TOPMed,gnomAD
rs201354264	p.Glu1003Gly	missense variant	-	NC_000004.12:g.39255854A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000500098	p.Glu1003Gly	missense variant	-	NC_000004.12:g.39255854A>G	ClinVar
rs757632232	p.Thr1005Ala	missense variant	-	NC_000004.12:g.39255859A>G	ExAC,gnomAD
rs757632232	p.Thr1005Ser	missense variant	-	NC_000004.12:g.39255859A>T	ExAC,gnomAD
rs199678654	p.Thr1006Ala	missense variant	-	NC_000004.12:g.39255862A>G	ESP,ExAC,TOPMed,gnomAD
RCV000387978	p.Thr1006Ala	missense variant	Cranioectodermal dysplasia	NC_000004.12:g.39255862A>G	ClinVar
RCV000296083	p.Thr1006Ala	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39255862A>G	ClinVar
rs1227206982	p.Asn1007Thr	missense variant	-	NC_000004.12:g.39255866A>C	TOPMed,gnomAD
rs1314784717	p.Asp1009Ala	missense variant	-	NC_000004.12:g.39255872A>C	gnomAD
rs746380673	p.Asp1009Asn	missense variant	-	NC_000004.12:g.39255871G>A	ExAC,TOPMed,gnomAD
COSM1055209	p.Asp1009Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39255871G>T	NCI-TCGA Cosmic
rs548534755	p.Tyr1010Cys	missense variant	-	NC_000004.12:g.39255875A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs749303864	p.Gln1011Lys	missense variant	-	NC_000004.12:g.39255877C>A	ExAC,TOPMed,gnomAD
rs749303864	p.Gln1011Glu	missense variant	-	NC_000004.12:g.39255877C>G	ExAC,TOPMed,gnomAD
rs768709445	p.Ser1012Asn	missense variant	-	NC_000004.12:g.39255881G>A	ExAC,gnomAD
rs774622700	p.Ile1013Thr	missense variant	-	NC_000004.12:g.39255884T>C	ExAC,gnomAD
rs1046069294	p.Ala1014Thr	missense variant	-	NC_000004.12:g.39255886G>A	TOPMed
rs1177977020	p.Tyr1016Cys	missense variant	-	NC_000004.12:g.39255893A>G	TOPMed,gnomAD
rs778689889	p.Phe1017Val	missense variant	-	NC_000004.12:g.39255895T>G	ExAC,gnomAD
rs200348598	p.Gly1019Arg	missense variant	-	NC_000004.12:g.39255901G>A	1000Genomes,ExAC,gnomAD
rs1178959769	p.Arg1022Thr	missense variant	-	NC_000004.12:g.39255911G>C	gnomAD
rs759424617	p.Tyr1023Cys	missense variant	-	NC_000004.12:g.39255914A>G	ExAC,TOPMed,gnomAD
rs759424617	p.Tyr1023Ser	missense variant	-	NC_000004.12:g.39255914A>C	ExAC,TOPMed,gnomAD
rs786205114	p.Tyr1023Ter	stop gained	Nephronophthisis 13 (nphp13)	NC_000004.12:g.39255914dup	-
RCV000023685	p.Tyr1023Ter	nonsense	Nephronophthisis 13 (NPHP13)	NC_000004.12:g.39255914dup	ClinVar
NCI-TCGA novel	p.Leu1024Ile	missense variant	-	NC_000004.12:g.39255916C>A	NCI-TCGA
rs1355749140	p.Phe1029Leu	missense variant	-	NC_000004.12:g.39255933C>A	gnomAD
rs1442233570	p.Cys1033Gly	missense variant	-	NC_000004.12:g.39255943T>G	gnomAD
rs752268355	p.Gly1034Ser	missense variant	-	NC_000004.12:g.39255946G>A	ExAC,gnomAD
rs758044483	p.Gln1035Pro	missense variant	-	NC_000004.12:g.39255950A>C	ExAC,gnomAD
rs1396808288	p.Gln1035Ter	stop gained	-	NC_000004.12:g.39255949C>T	TOPMed
rs1224983700	p.Ser1037Leu	missense variant	-	NC_000004.12:g.39255956C>T	gnomAD
rs748174246	p.Arg1038Ter	stop gained	-	NC_000004.12:g.39255958C>T	ExAC,gnomAD
rs1322637464	p.Arg1038Gln	missense variant	-	NC_000004.12:g.39255959G>A	TOPMed,gnomAD
RCV000779442	p.Arg1038Ter	nonsense	WDR19-Related Disorders	NC_000004.12:g.39255958C>T	ClinVar
rs1269806951	p.Lys1041Gln	missense variant	-	NC_000004.12:g.39257492A>C	gnomAD
rs1449526960	p.His1042Arg	missense variant	-	NC_000004.12:g.39257496A>G	TOPMed
rs1490255888	p.His1042Gln	missense variant	-	NC_000004.12:g.39257497C>G	gnomAD
rs762956522	p.Cys1046Arg	missense variant	-	NC_000004.12:g.39257507T>C	ExAC,TOPMed,gnomAD
rs1244203665	p.Pro1047Leu	missense variant	-	NC_000004.12:g.39257511C>T	TOPMed,gnomAD
rs763748984	p.Ser1049Leu	missense variant	-	NC_000004.12:g.39257517C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp1051Glu	missense variant	-	NC_000004.12:g.39257524T>G	NCI-TCGA
rs1387754769	p.Asp1051Tyr	missense variant	-	NC_000004.12:g.39257522G>T	gnomAD
rs1163694118	p.Val1053Ala	missense variant	-	NC_000004.12:g.39257529T>C	gnomAD
rs756862143	p.Ala1054Thr	missense variant	-	NC_000004.12:g.39257531G>A	ExAC,gnomAD
rs1384721795	p.Glu1056Gln	missense variant	-	NC_000004.12:g.39257537G>C	gnomAD
rs1160741886	p.Met1057Ile	missense variant	-	NC_000004.12:g.39257542G>A	TOPMed
rs768769727	p.Ala1058Ser	missense variant	-	NC_000004.12:g.39257543G>T	gnomAD
rs768769727	p.Ala1058Thr	missense variant	-	NC_000004.12:g.39257543G>A	gnomAD
rs767135846	p.Glu1060Asp	missense variant	-	NC_000004.12:g.39257551A>C	ExAC,gnomAD
rs1281541784	p.Val1062Ile	missense variant	-	NC_000004.12:g.39266063G>A	gnomAD
rs760222006	p.Gly1063Asp	missense variant	-	NC_000004.12:g.39266067G>A	ExAC,TOPMed,gnomAD
rs961651026	p.Ala1065Thr	missense variant	-	NC_000004.12:g.39266072G>A	TOPMed,gnomAD
rs550125129	p.Asp1067Val	missense variant	-	NC_000004.12:g.39266079A>T	1000Genomes,TOPMed
rs1463002459	p.Thr1071Ala	missense variant	-	NC_000004.12:g.39266090A>G	gnomAD
rs1204925685	p.Asn1072Ser	missense variant	-	NC_000004.12:g.39266094A>G	TOPMed,gnomAD
rs1241951973	p.Ile1075Thr	missense variant	-	NC_000004.12:g.39266103T>C	gnomAD
rs1288751943	p.Ile1075Leu	missense variant	-	NC_000004.12:g.39266102A>T	TOPMed
rs1421595214	p.Asp1076Asn	missense variant	-	NC_000004.12:g.39266105G>A	TOPMed,gnomAD
rs1183381045	p.His1077Arg	missense variant	-	NC_000004.12:g.39266109A>G	gnomAD
rs1363976803	p.Leu1078Phe	missense variant	-	NC_000004.12:g.39266111C>T	gnomAD
rs1469310501	p.Glu1081Asp	missense variant	-	NC_000004.12:g.39266122G>C	gnomAD
rs1156609878	p.Asn1082Ile	missense variant	-	NC_000004.12:g.39266124A>T	gnomAD
rs376167184	p.Asp1083Asn	missense variant	-	NC_000004.12:g.39266126G>A	ESP,ExAC,TOPMed,gnomAD
rs16995209	p.Gly1084Ser	missense variant	-	NC_000004.12:g.39266129G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs16995209	p.Gly1084Ser	missense variant	-	NC_000004.12:g.39266129G>A	UniProt,dbSNP
VAR_053424	p.Gly1084Ser	missense variant	-	NC_000004.12:g.39266129G>A	UniProt
rs1394317306	p.Gly1084Val	missense variant	-	NC_000004.12:g.39266130G>T	gnomAD
RCV000250398	p.Gly1084Ser	missense variant	-	NC_000004.12:g.39266129G>A	ClinVar
RCV000554837	p.Gly1084Ser	missense variant	Asphyxiating thoracic dystrophy 5 (SRTD5)	NC_000004.12:g.39266129G>A	ClinVar
rs1283745126	p.Met1085Ile	missense variant	-	NC_000004.12:g.39266134G>A	TOPMed
rs1331013833	p.Met1085Leu	missense variant	-	NC_000004.12:g.39266132A>C	gnomAD
rs758813538	p.Asp1088Asn	missense variant	-	NC_000004.12:g.39267995G>A	ExAC,gnomAD
rs1270538245	p.Ala1089Val	missense variant	-	NC_000004.12:g.39267999C>T	gnomAD
rs147302274	p.Lys1090Gln	missense variant	-	NC_000004.12:g.39268001A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs545557012	p.Leu1092Arg	missense variant	-	NC_000004.12:g.39268008T>G	1000Genomes,ExAC
rs781620821	p.Arg1094His	missense variant	-	NC_000004.12:g.39268014G>A	ExAC,gnomAD
rs757564170	p.Arg1094Cys	missense variant	-	NC_000004.12:g.39268013C>T	ExAC,TOPMed,gnomAD
rs183296907	p.Leu1095Phe	missense variant	-	NC_000004.12:g.39268018G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs183296907	p.Leu1095Phe	missense variant	-	NC_000004.12:g.39268018G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs779476359	p.Tyr1096Ter	stop gained	-	NC_000004.12:g.39268021C>G	ExAC,gnomAD
rs771862503	p.Met1097Val	missense variant	-	NC_000004.12:g.39268022A>G	ExAC,gnomAD
rs527761478	p.Ala1098Ser	missense variant	-	NC_000004.12:g.39268025G>T	1000Genomes,ExAC,gnomAD
rs387906981	p.Arg1103Ter	stop gained	Cranioectodermal dysplasia 4 (ced4)	NC_000004.12:g.39268040C>T	ExAC,TOPMed,gnomAD
rs567310076	p.Arg1103Gln	missense variant	-	NC_000004.12:g.39268041G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000508219	p.Arg1103Gln	missense variant	-	NC_000004.12:g.39268041G>A	ClinVar
RCV000023682	p.Arg1103Ter	nonsense	Cranioectodermal dysplasia 4 (CED4)	NC_000004.12:g.39268040C>T	ClinVar
rs1401145684	p.Gln1107Ter	stop gained	-	NC_000004.12:g.39268052C>T	TOPMed
rs1296984210	p.Ala1109Val	missense variant	-	NC_000004.12:g.39268059C>T	gnomAD
rs375794458	p.Ala1109Thr	missense variant	-	NC_000004.12:g.39268058G>A	ESP,TOPMed,gnomAD
rs1225497106	p.Ile1110Val	missense variant	-	NC_000004.12:g.39268061A>G	gnomAD
NCI-TCGA novel	p.Ile1111Met	missense variant	-	NC_000004.12:g.39268066C>G	NCI-TCGA
rs775672960	p.Ile1112Thr	missense variant	-	NC_000004.12:g.39268068T>C	ExAC,gnomAD
rs1359638534	p.Glu1115Lys	missense variant	-	NC_000004.12:g.39268076G>A	gnomAD
NCI-TCGA novel	p.Glu1116Lys	missense variant	-	NC_000004.12:g.39268079G>A	NCI-TCGA
NCI-TCGA novel	p.Ser1118Tyr	missense variant	-	NC_000004.12:g.39268086C>A	NCI-TCGA
rs1436389201	p.Gly1120Ser	missense variant	-	NC_000004.12:g.39268091G>A	TOPMed
COSM1055211	p.Gly1120Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39269976G>A	NCI-TCGA Cosmic
rs545916111	p.Asn1121Ser	missense variant	-	NC_000004.12:g.39269979A>G	ExAC,TOPMed,gnomAD
RCV000297589	p.Asn1121Ser	missense variant	Cranioectodermal dysplasia	NC_000004.12:g.39269979A>G	ClinVar
RCV000263503	p.Asn1121Ser	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39269979A>G	ClinVar
rs764512369	p.Arg1123Gln	missense variant	-	NC_000004.12:g.39269985G>A	ExAC,TOPMed,gnomAD
rs369310189	p.Arg1123Trp	missense variant	-	NC_000004.12:g.39269984C>T	ESP,TOPMed
rs767727756	p.Asp1127Asn	missense variant	-	NC_000004.12:g.39269996G>A	ExAC,TOPMed,gnomAD
rs372799054	p.Val1128Ala	missense variant	-	NC_000004.12:g.39270000T>C	ESP,ExAC,TOPMed,gnomAD
COSM6167111	p.Val1128Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39269999G>A	NCI-TCGA Cosmic
RCV000526409	p.Val1128Ala	missense variant	Asphyxiating thoracic dystrophy 5 (SRTD5)	NC_000004.12:g.39270000T>C	ClinVar
rs1411765963	p.Ser1131Asn	missense variant	-	NC_000004.12:g.39270009G>A	gnomAD
rs1187864679	p.Tyr1133His	missense variant	-	NC_000004.12:g.39270014T>C	TOPMed
rs398124412	p.Ala1134Thr	missense variant	-	NC_000004.12:g.39270017G>A	-
RCV000082251	p.Ala1134Thr	missense variant	-	NC_000004.12:g.39270017G>A	ClinVar
COSM6100012	p.Lys1137Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39270027A>C	NCI-TCGA Cosmic
rs547583427	p.Ser1138Cys	missense variant	-	NC_000004.12:g.39270030C>G	1000Genomes,ExAC,gnomAD
rs547583427	p.Ser1138Tyr	missense variant	-	NC_000004.12:g.39270030C>A	1000Genomes,ExAC,gnomAD
rs75621037	p.Gln1139Arg	missense variant	-	NC_000004.12:g.39270033A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs554267448	p.Gln1139Glu	missense variant	-	NC_000004.12:g.39270032C>G	ExAC,gnomAD
RCV000354756	p.Gln1139Arg	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39270033A>G	ClinVar
RCV000276391	p.Gln1139Arg	missense variant	Cranioectodermal dysplasia	NC_000004.12:g.39270033A>G	ClinVar
rs757140528	p.Lys1142Thr	missense variant	-	NC_000004.12:g.39270042A>C	ExAC,gnomAD
rs780714075	p.Pro1144Ser	missense variant	-	NC_000004.12:g.39270047C>T	ExAC,TOPMed,gnomAD
rs1336097510	p.Pro1144Leu	missense variant	-	NC_000004.12:g.39270048C>T	TOPMed
NCI-TCGA novel	p.Ser1145Cys	missense variant	-	NC_000004.12:g.39270051C>G	NCI-TCGA
rs199625785	p.Ser1145Phe	missense variant	-	NC_000004.12:g.39270051C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs779635441	p.Glu1146Lys	missense variant	-	NC_000004.12:g.39270053G>A	ExAC,TOPMed,gnomAD
COSM1310040	p.Glu1146Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39270055G>C	NCI-TCGA Cosmic
rs886059401	p.Met1147Val	missense variant	-	NC_000004.12:g.39270056A>G	-
RCV000333705	p.Met1147Val	missense variant	Cranioectodermal dysplasia	NC_000004.12:g.39270056A>G	ClinVar
RCV000385898	p.Met1147Val	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39270056A>G	ClinVar
rs1235824066	p.Ala1148Val	missense variant	-	NC_000004.12:g.39270060C>T	TOPMed,gnomAD
COSM1429609	p.Asn1150Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39270065A>G	NCI-TCGA Cosmic
rs768947798	p.Ile1153Thr	missense variant	-	NC_000004.12:g.39270075T>C	ExAC,gnomAD
rs774806370	p.His1155Pro	missense variant	-	NC_000004.12:g.39270081A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His1155Gln	missense variant	-	NC_000004.12:g.39270082C>A	NCI-TCGA
rs908231846	p.Tyr1157Asp	missense variant	-	NC_000004.12:g.39270086T>G	TOPMed,gnomAD
rs908231846	p.Tyr1157His	missense variant	-	NC_000004.12:g.39270086T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Tyr1157Ter	stop gained	-	NC_000004.12:g.39270088T>A	NCI-TCGA
rs760312911	p.Ile1158Met	missense variant	-	NC_000004.12:g.39270091A>G	ExAC,TOPMed,gnomAD
rs1426405030	p.Ile1158Val	missense variant	-	NC_000004.12:g.39270089A>G	gnomAD
rs1355839194	p.Val1160Ile	missense variant	-	NC_000004.12:g.39270095G>A	gnomAD
rs772640672	p.Lys1161Arg	missense variant	-	NC_000004.12:g.39270099A>G	ExAC,TOPMed,gnomAD
rs772640672	p.Lys1161Thr	missense variant	-	NC_000004.12:g.39270099A>C	ExAC,TOPMed,gnomAD
rs1429836760	p.Ile1162Asn	missense variant	-	NC_000004.12:g.39272981T>A	TOPMed
rs1225086394	p.Val1164Ile	missense variant	-	NC_000004.12:g.39272986G>A	gnomAD
rs748465735	p.Val1164Asp	missense variant	-	NC_000004.12:g.39272987T>A	ExAC,TOPMed,gnomAD
COSM1429610	p.Asn1166MetPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.39272989A>-	NCI-TCGA Cosmic
rs767154492	p.Gly1167Val	missense variant	-	NC_000004.12:g.39272996G>T	ExAC,TOPMed,gnomAD
rs750250561	p.Asp1168Asn	missense variant	-	NC_000004.12:g.39272998G>A	ExAC,TOPMed,gnomAD
rs770967175	p.His1169Tyr	missense variant	-	NC_000004.12:g.39273001C>T	ExAC,gnomAD
rs1177402178	p.His1169Leu	missense variant	-	NC_000004.12:g.39273002A>T	TOPMed
COSM733516	p.His1169Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39273001C>G	NCI-TCGA Cosmic
rs371474583	p.Met1170Leu	missense variant	-	NC_000004.12:g.39273004A>C	ESP,ExAC,TOPMed,gnomAD
rs557889533	p.Met1170Thr	missense variant	-	NC_000004.12:g.39273005T>C	1000Genomes,gnomAD
rs371474583	p.Met1170Val	missense variant	-	NC_000004.12:g.39273004A>G	ESP,ExAC,TOPMed,gnomAD
rs557889533	p.Met1170Arg	missense variant	-	NC_000004.12:g.39273005T>G	1000Genomes,gnomAD
rs371474583	p.Met1170Leu	missense variant	-	NC_000004.12:g.39273004A>T	ESP,ExAC,TOPMed,gnomAD
rs765379022	p.Lys1171Asn	missense variant	-	NC_000004.12:g.39273009A>T	ExAC,gnomAD
rs774149305	p.Gly1172Glu	missense variant	-	NC_000004.12:g.39273011G>A	ExAC,gnomAD
rs372719724	p.Arg1174Leu	missense variant	-	NC_000004.12:g.39273017G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs372719724	p.Arg1174His	missense variant	-	NC_000004.12:g.39273017G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg1174Ser	missense variant	-	NC_000004.12:g.39273016C>A	NCI-TCGA
rs755139948	p.Arg1174Cys	missense variant	-	NC_000004.12:g.39273016C>T	ExAC,TOPMed,gnomAD
rs765836749	p.Met1175Leu	missense variant	-	NC_000004.12:g.39273019A>C	ExAC,gnomAD
rs1321829073	p.Ile1177Val	missense variant	-	NC_000004.12:g.39273025A>G	TOPMed
rs79436363	p.Arg1178Gln	missense variant	-	NC_000004.12:g.39273029G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs754690461	p.Arg1178Trp	missense variant	-	NC_000004.12:g.39273028C>T	ExAC,TOPMed,gnomAD
RCV000433622	p.Arg1178Gln	missense variant	-	NC_000004.12:g.39273029G>A	ClinVar
rs752739796	p.Val1179Gly	missense variant	-	NC_000004.12:g.39273032T>G	TOPMed,gnomAD
rs1284947759	p.Ala1180Val	missense variant	-	NC_000004.12:g.39273035C>T	gnomAD
rs747799013	p.Asn1181Ser	missense variant	-	NC_000004.12:g.39273038A>G	ExAC,gnomAD
rs1277873234	p.Asn1182Ser	missense variant	-	NC_000004.12:g.39273041A>G	TOPMed
rs1286801775	p.Ile1183Phe	missense variant	-	NC_000004.12:g.39273043A>T	gnomAD
rs998142201	p.Lys1185Gln	missense variant	-	NC_000004.12:g.39273049A>C	TOPMed,gnomAD
rs1208726588	p.Pro1187Ser	missense variant	-	NC_000004.12:g.39273055C>T	gnomAD
rs1245638655	p.Pro1187Leu	missense variant	-	NC_000004.12:g.39273056C>T	gnomAD
rs778261943	p.His1189Tyr	missense variant	-	NC_000004.12:g.39273061C>T	ExAC,TOPMed,gnomAD
RCV000512921	p.His1189Tyr	missense variant	-	NC_000004.12:g.39273061C>T	ClinVar
rs778261943	p.His1189Asp	missense variant	-	NC_000004.12:g.39273061C>G	ExAC,TOPMed,gnomAD
rs1186507770	p.Pro1192Ser	missense variant	-	NC_000004.12:g.39274816C>T	TOPMed
rs368286694	p.Ile1193Met	missense variant	-	NC_000004.12:g.39274821C>G	ESP,TOPMed,gnomAD
rs370847858	p.Thr1195Met	missense variant	-	NC_000004.12:g.39274826C>T	ESP,ExAC,TOPMed,gnomAD
rs764810190	p.Ser1196Pro	missense variant	-	NC_000004.12:g.39274828T>C	ExAC,gnomAD
rs764810190	p.Ser1196Ala	missense variant	-	NC_000004.12:g.39274828T>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser1196Thr	missense variant	-	NC_000004.12:g.39274828T>A	NCI-TCGA
rs752447818	p.Ile1199Thr	missense variant	-	NC_000004.12:g.39274838T>C	ExAC,gnomAD
rs1401677853	p.Glu1200Lys	missense variant	-	NC_000004.12:g.39274840G>A	gnomAD
NCI-TCGA novel	p.Glu1200ValPheSerTerUnk	frameshift	-	NC_000004.12:g.39274839_39274842TGAG>-	NCI-TCGA
rs886059402	p.Cys1201Tyr	missense variant	-	NC_000004.12:g.39274844G>A	-
RCV000328302	p.Cys1201Tyr	missense variant	Cranioectodermal dysplasia	NC_000004.12:g.39274844G>A	ClinVar
RCV000275573	p.Cys1201Tyr	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39274844G>A	ClinVar
rs1394483779	p.Arg1203Gly	missense variant	-	NC_000004.12:g.39274849A>G	gnomAD
COSM3825817	p.Arg1203Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39274850G>T	NCI-TCGA Cosmic
rs758077216	p.Ala1204Thr	missense variant	-	NC_000004.12:g.39274852G>A	ExAC,gnomAD
rs1487657507	p.Gly1205Asp	missense variant	-	NC_000004.12:g.39274856G>A	TOPMed
rs1286854859	p.Ala1210Thr	missense variant	-	NC_000004.12:g.39274870G>A	gnomAD
rs757721845	p.Phe1211Leu	missense variant	-	NC_000004.12:g.39274875C>G	ExAC,gnomAD
rs866537330	p.Ser1212Gly	missense variant	-	NC_000004.12:g.39274876A>G	TOPMed,gnomAD
rs1206705962	p.Ala1214Thr	missense variant	-	NC_000004.12:g.39274882G>A	TOPMed,gnomAD
rs571331592	p.Met1216Val	missense variant	-	NC_000004.12:g.39274888A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs201597047	p.Arg1223Cys	missense variant	-	NC_000004.12:g.39274909C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs115335610	p.Arg1223His	missense variant	-	NC_000004.12:g.39274910G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs115335610	p.Arg1223Pro	missense variant	-	NC_000004.12:g.39274910G>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000488404	p.Arg1223Cys	missense variant	-	NC_000004.12:g.39274909C>T	ClinVar
RCV000385239	p.Arg1223Cys	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39274909C>T	ClinVar
RCV000288576	p.Arg1223Cys	missense variant	Cranioectodermal dysplasia	NC_000004.12:g.39274909C>T	ClinVar
rs1198130831	p.Ile1226Thr	missense variant	-	NC_000004.12:g.39274919T>C	gnomAD
NCI-TCGA novel	p.Ile1226Met	missense variant	-	NC_000004.12:g.39274920A>G	NCI-TCGA
rs573727744	p.Asp1227Glu	missense variant	-	NC_000004.12:g.39274923T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs749540399	p.Asp1227Gly	missense variant	-	NC_000004.12:g.39274922A>G	ExAC,gnomAD
rs201051877	p.Ala1228Gly	missense variant	-	NC_000004.12:g.39274925C>G	ESP,ExAC,TOPMed,gnomAD
rs1182226412	p.Lys1233Arg	missense variant	-	NC_000004.12:g.39274940A>G	gnomAD
rs1429364265	p.Lys1233Asn	missense variant	-	NC_000004.12:g.39274941G>T	gnomAD
rs1306554397	p.Ile1234Met	missense variant	-	NC_000004.12:g.39274944C>G	TOPMed,gnomAD
rs587777351	p.Glu1235Lys	missense variant	Senior-Loken syndrome 8 (SLSN8)	NC_000004.12:g.39274945G>A	UniProt,dbSNP
VAR_073679	p.Glu1235Lys	missense variant	Senior-Loken syndrome 8 (SLSN8)	NC_000004.12:g.39274945G>A	UniProt
rs587777351	p.Glu1235Lys	missense variant	Nephronophthisis 13 (nphp13)	NC_000004.12:g.39274945G>A	ExAC,gnomAD
RCV000115013	p.Glu1235Lys	missense variant	Nephronophthisis 13 (NPHP13)	NC_000004.12:g.39274945G>A	ClinVar
RCV000788500	p.Glu1235Lys	missense variant	-	NC_000004.12:g.39274945G>A	ClinVar
rs141039852	p.Gly1236Glu	missense variant	-	NC_000004.12:g.39274949G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141039852	p.Gly1236Ala	missense variant	-	NC_000004.12:g.39274949G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000756918	p.Gly1236Glu	missense variant	-	NC_000004.12:g.39274949G>A	ClinVar
rs1301129386	p.Arg1239Gly	missense variant	-	NC_000004.12:g.39274957A>G	gnomAD
rs1209319543	p.Pro1241Thr	missense variant	-	NC_000004.12:g.39277024C>A	gnomAD
rs576113399	p.Pro1241Leu	missense variant	-	NC_000004.12:g.39277025C>T	1000Genomes,ExAC,gnomAD
rs1209319543	p.Pro1241Ser	missense variant	-	NC_000004.12:g.39277024C>T	gnomAD
RCV000345648	p.Pro1241Leu	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39277025C>T	ClinVar
RCV000379247	p.Pro1241Leu	missense variant	Cranioectodermal dysplasia	NC_000004.12:g.39277025C>T	ClinVar
rs759579016	p.Asp1242Asn	missense variant	-	NC_000004.12:g.39277027G>A	ExAC,TOPMed,gnomAD
rs769789803	p.Ile1243Thr	missense variant	-	NC_000004.12:g.39277031T>C	ExAC,TOPMed,gnomAD
rs775155937	p.Ser1244Phe	missense variant	-	NC_000004.12:g.39277034C>T	ExAC,gnomAD
rs561174402	p.Glu1245Gly	missense variant	-	NC_000004.12:g.39277037A>G	1000Genomes,ExAC,gnomAD
COSM1310041	p.Glu1245Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39277036G>A	NCI-TCGA Cosmic
rs529745222	p.Thr1250Met	missense variant	-	NC_000004.12:g.39277052C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs750716949	p.Cys1253Tyr	missense variant	-	NC_000004.12:g.39277061G>A	ExAC,TOPMed,gnomAD
rs1432213575	p.Cys1253Arg	missense variant	-	NC_000004.12:g.39277060T>C	gnomAD
RCV000754958	p.Cys1253Tyr	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39277061G>A	ClinVar
rs756625864	p.Pro1254Ser	missense variant	-	NC_000004.12:g.39277063C>T	ExAC,gnomAD
rs1267378402	p.Leu1259Pro	missense variant	-	NC_000004.12:g.39277079T>C	gnomAD
RCV000339966	p.Leu1259Ile	missense variant	Cranioectodermal dysplasia	NC_000004.12:g.39277078C>A	ClinVar
RCV000287322	p.Leu1259Ile	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39277078C>A	ClinVar
rs886059403	p.Leu1259Ile	missense variant	-	NC_000004.12:g.39277078C>A	gnomAD
rs778837060	p.Leu1260Ile	missense variant	-	NC_000004.12:g.39277081C>A	ExAC,gnomAD
rs1553919125	p.Glu1262Lys	missense variant	-	NC_000004.12:g.39277087G>A	-
rs748425573	p.Glu1262Asp	missense variant	-	NC_000004.12:g.39277089G>C	ExAC,gnomAD
RCV000538980	p.Glu1262Lys	missense variant	Asphyxiating thoracic dystrophy 5 (SRTD5)	NC_000004.12:g.39277087G>A	ClinVar
rs1290087992	p.Cys1263Arg	missense variant	-	NC_000004.12:g.39277090T>C	gnomAD
rs1394076121	p.Glu1264Lys	missense variant	-	NC_000004.12:g.39277093G>A	TOPMed
COSM1055214	p.Leu1266Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39277099C>T	NCI-TCGA Cosmic
rs745603321	p.Cys1267Tyr	missense variant	-	NC_000004.12:g.39277103G>A	ExAC,gnomAD
rs745603321	p.Cys1267Ser	missense variant	-	NC_000004.12:g.39277103G>C	ExAC,gnomAD
RCV000516083	p.Cys1267Tyr	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39277103G>A	ClinVar
rs756519107	p.Pro1268Arg	missense variant	-	NC_000004.12:g.39277106C>G	ExAC,gnomAD
rs1035768119	p.Cys1270Ser	missense variant	-	NC_000004.12:g.39277111T>A	TOPMed
RCV000653251	p.Cys1270Ser	missense variant	Asphyxiating thoracic dystrophy 5 (SRTD5)	NC_000004.12:g.39277111T>A	ClinVar
rs200670161	p.Pro1275Ala	missense variant	-	NC_000004.12:g.39277126C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1052778147	p.Cys1277Tyr	missense variant	-	NC_000004.12:g.39277133G>A	TOPMed
rs1250445688	p.Ile1278Thr	missense variant	-	NC_000004.12:g.39277136T>C	gnomAD
rs747668085	p.Arg1282Gln	missense variant	-	NC_000004.12:g.39278135G>A	ExAC,TOPMed,gnomAD
rs1167254374	p.Arg1282Ter	stop gained	-	NC_000004.12:g.39278134C>T	TOPMed
rs1187043579	p.His1283Tyr	missense variant	-	NC_000004.12:g.39278137C>T	TOPMed
rs1438498947	p.Met1284Thr	missense variant	-	NC_000004.12:g.39278141T>C	gnomAD
rs1275323488	p.Met1284Ile	missense variant	-	NC_000004.12:g.39278142G>A	gnomAD
NCI-TCGA novel	p.Asp1287Asn	missense variant	-	NC_000004.12:g.39278149G>A	NCI-TCGA
rs1301360733	p.Thr1290Met	missense variant	-	NC_000004.12:g.39278159C>T	TOPMed,gnomAD
RCV000754962	p.Thr1290Ter	frameshift	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39278158_39278161del	ClinVar
rs373809829	p.Val1291Ala	missense variant	-	NC_000004.12:g.39278162T>C	ESP,ExAC,gnomAD
rs766752510	p.Cys1292Arg	missense variant	-	NC_000004.12:g.39278164T>C	ExAC,gnomAD
rs796543493	p.Cys1292Phe	missense variant	-	NC_000004.12:g.39278165G>T	gnomAD
rs1207834447	p.Pro1293Arg	missense variant	-	NC_000004.12:g.39278168C>G	TOPMed
rs1224275153	p.His1294Leu	missense variant	-	NC_000004.12:g.39278171A>T	gnomAD
rs1477993853	p.Cys1295Tyr	missense variant	-	NC_000004.12:g.39278174G>A	gnomAD
rs776822526	p.Phe1297Leu	missense variant	-	NC_000004.12:g.39278179T>C	ExAC,TOPMed,gnomAD
rs760094205	p.Phe1297Leu	missense variant	-	NC_000004.12:g.39278181C>A	ExAC,gnomAD
rs765606810	p.Pro1298Ser	missense variant	-	NC_000004.12:g.39278182C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro1298Thr	missense variant	-	NC_000004.12:g.39278182C>A	NCI-TCGA
NCI-TCGA novel	p.Glu1303Ter	stop gained	-	NC_000004.12:g.39278197G>T	NCI-TCGA
rs764241905	p.Lys1305Asn	missense variant	-	NC_000004.12:g.39278205G>C	ExAC,gnomAD
rs1438702805	p.Ile1306Val	missense variant	-	NC_000004.12:g.39278206A>G	gnomAD
rs1295587311	p.Ile1306Ser	missense variant	-	NC_000004.12:g.39278207T>G	TOPMed
rs751618732	p.Met1307Thr	missense variant	-	NC_000004.12:g.39278541T>C	ExAC,gnomAD
rs1261611717	p.Thr1310Asn	missense variant	-	NC_000004.12:g.39278550C>A	TOPMed
rs1236660799	p.Thr1313Ile	missense variant	-	NC_000004.12:g.39278559C>T	gnomAD
rs1187870446	p.Thr1313Pro	missense variant	-	NC_000004.12:g.39278558A>C	gnomAD
rs1187870446	p.Thr1313Ala	missense variant	-	NC_000004.12:g.39278558A>G	gnomAD
COSM1429611	p.Cys1314Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.39278563T>A	NCI-TCGA Cosmic
rs1412544408	p.Met1316Thr	missense variant	-	NC_000004.12:g.39278568T>C	gnomAD
COSM3775828	p.Glu1319Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39278576G>C	NCI-TCGA Cosmic
rs1158060361	p.Asn1322His	missense variant	-	NC_000004.12:g.39278585A>C	gnomAD
rs563367049	p.Ala1323Thr	missense variant	-	NC_000004.12:g.39278588G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1243272786	p.Ala1324Thr	missense variant	-	NC_000004.12:g.39278591G>A	gnomAD
rs754767677	p.Lys1328Asn	missense variant	-	NC_000004.12:g.39278605G>T	ExAC,gnomAD
rs1335042220	p.Lys1328Arg	missense variant	-	NC_000004.12:g.39278604A>G	gnomAD
rs778745769	p.Asp1331Glu	missense variant	-	NC_000004.12:g.39278614C>G	ExAC,TOPMed,gnomAD
rs752597919	p.Cys1332Arg	missense variant	-	NC_000004.12:g.39278615T>C	ExAC,gnomAD
rs777270395	p.Gln1334Pro	missense variant	-	NC_000004.12:g.39278622A>C	ExAC,gnomAD
rs746465783	p.Tyr1335Cys	missense variant	-	NC_000004.12:g.39278625A>G	ExAC,TOPMed,gnomAD
rs1290363348	p.Leu1336Val	missense variant	-	NC_000004.12:g.39278627C>G	TOPMed
rs745506402	p.Arg1337Gln	missense variant	-	NC_000004.12:g.39278631G>A	ExAC,gnomAD
rs745506402	p.Arg1337Pro	missense variant	-	NC_000004.12:g.39278631G>C	ExAC,gnomAD
rs367721770	p.Arg1337Gly	missense variant	-	NC_000004.12:g.39278630C>G	ESP,ExAC,TOPMed,gnomAD
rs367721770	p.Arg1337Ter	stop gained	-	NC_000004.12:g.39278630C>T	ESP,ExAC,TOPMed,gnomAD
rs775879073	p.Thr1338Met	missense variant	-	NC_000004.12:g.39278634C>T	ExAC,gnomAD
rs774982272	p.Glu1341Lys	missense variant	-	NC_000004.12:g.39278642G>A	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0004135	Ataxia Telangiectasia	disease	BEFREE
C0009240	Cognition	phenotype	GWASCAT
C0010278	Craniosynostosis	disease	HPO
C0010346	Crohn Disease	disease	BEFREE
C0010495	Cutis Laxa	disease	HPO
C0013575	Ectodermal Dysplasia	disease	HPO
C0019294	Hernia, Inguinal	phenotype	HPO
C0019555	Hip Dislocation, Congenital	disease	HPO
C0020490	Hyperopia	disease	HPO
C0020538	Hypertensive disease	group	HPO
C0020608	Hypodontia	disease	HPO
C0022658	Kidney Diseases	group	HPO
C0025322	Premature Menopause	phenotype	HPO
C0025361	Mental Processes	group	GWASDB
C0025995	Micromelia	disease	HPO
C0026764	Multiple Myeloma	disease	BEFREE
C0027092	Myopia	disease	HPO
C0029422	Osteochondrodysplasias	group	HPO
C0029456	Osteoporosis	disease	HPO
C0030283	Pancreatic Cyst	disease	HPO
C0033578	Prostatic Neoplasms	group	LHGDN
C0033687	Proteinuria	phenotype	HPO
C0035078	Kidney Failure	disease	BEFREE
C0035229	Respiratory Insufficiency	phenotype	HPO
C0035334	Retinitis Pigmentosa	disease	BEFREE;HPO
C0036202	Sarcoidosis	disease	BEFREE
C0036220	Kaposi Sarcoma	disease	BEFREE
C0037231	Sjogren-Larsson Syndrome	disease	BEFREE
C0042798	Low Vision	disease	HPO
C0085653	Pyogenic granuloma	disease	BEFREE
C0086543	Cataract	disease	HPO
C0152427	Polydactyly	disease	GENOMICS_ENGLAND
C0162510	Caroli Disease	disease	BEFREE
C0220620	Gastrointestinal Carcinoid Tumor	disease	BEFREE
C0221352	Syndactyly of fingers	disease	HPO
C0221354	Frontal bossing	disease	HPO
C0221357	Brachydactyly	disease	HPO
C0221358	Long narrow head	phenotype	HPO
C0234632	Reduced visual acuity	phenotype	HPO
C0235942	Abnormality of the skull	phenotype	HPO
C0238304	Chronic interstitial nephritis	disease	HPO
C0240340	Microdontia (disorder)	disease	HPO
C0263218	Pyogenic granuloma of skin	disease	BEFREE
C0265275	Jeune thoracic dystrophy	disease	BEFREE;CLINVAR;ORPHANET
C0266295	Congenital hypoplasia of kidney	disease	HPO
C0267834	Liver cyst	phenotype	HPO
C0275814	Streptococcal lymphadenitis of swine	disease	BEFREE
C0339526	Autosomal recessive retinitis pigmentosa	disease	BEFREE
C0349588	Short stature	phenotype	HPO
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0403553	Renal dysplasia and retinal aplasia (disorder)	disease	BEFREE;ORPHANET
C0424711	Orbital separation diminished	phenotype	HPO
C0426789	Short thorax	phenotype	HPO
C0426790	Narrow thorax	phenotype	HPO
C0432235	Cranioectodermal Dysplasia	disease	BEFREE;CTD_human;ORPHANET
C0497247	Increase in blood pressure	phenotype	HPO
C0557874	Global developmental delay	disease	HPO
C0600139	Prostate carcinoma	disease	BEFREE
C0678230	Congenital Epicanthus	disease	HPO
C0687120	Nephronophthisis	disease	BEFREE;HPO
C0700225	Serum creatinine raised	phenotype	HPO
C0854723	Retinal Dystrophies	group	HPO
C1406921	Thoracic dysplasia	disease	HPO
C1408258	Kidney damage	phenotype	HPO
C1510497	Lens Opacities	phenotype	HPO
C1565489	Renal Insufficiency	disease	BEFREE
C1578482	Valgus deformities of feet	phenotype	HPO
C1691228	Cystic Kidney Diseases	group	GENOMICS_ENGLAND
C1720508	Retinal pigment epithelial abnormality	phenotype	HPO
C1837770	Sparse hair	phenotype	HPO
C1839364	Progressive visual loss	phenotype	HPO
C1839829	Short distal phalanx of finger	phenotype	HPO
C1840077	Anteverted nostril	phenotype	HPO
C1842083	Abnormality of the ribs	phenotype	HPO
C1844820	Range of joint movement increased	phenotype	HPO
C1848673	Hypoplastic feet	phenotype	HPO
C1849039	Metaphyseal widening	phenotype	HPO
C1849063	Short iliac bones	phenotype	HPO
C1850630	Broad distal phalanx of finger	phenotype	HPO
C1853246	Everted lower lip vermilion	phenotype	HPO
C1853737	Prominent occiput	phenotype	HPO
C1855681	Nephronophthisis, familial juvenile	disease	ORPHANET
C1860394	Multiple pancreatic cysts	phenotype	HPO
C1860493	Abnormality of the sternum	phenotype	HPO
C1860844	Thin, sparse hair	phenotype	HPO
C1862475	Abnormality of retinal pigmentation	phenotype	HPO
C1864897	Cognitive delay	phenotype	HPO
C1865017	Thin upper lip vermilion	phenotype	HPO
C1865037	Cone-shaped epiphysis	phenotype	HPO
C1866231	Full cheeks	phenotype	HPO
C1866234	Protruding lower lip	phenotype	HPO
C1866730	Rhizomelia	disease	HPO
C2051831	Pectus excavatum	phenotype	HPO
C2239176	Liver carcinoma	disease	BEFREE
C2316810	Chronic kidney disease stage 5	disease	HPO
C2748653	Chubby cheeks	phenotype	HPO
C2930812	Generalized elastolysis	disease	HPO
C3277697	Decreased visual acuity, progressive	phenotype	HPO
C3280598	SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY	disease	CLINVAR;UNIPROT
C3280612	NEPHRONOPHTHISIS 13	disease	BEFREE;CLINVAR;UNIPROT
C3280616	CRANIOECTODERMAL DYSPLASIA 4	disease	CLINVAR;UNIPROT
C3553764	Joint hyperflexibility	phenotype	HPO
C3665347	Visual Impairment	phenotype	HPO
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C3806443	Puffy cheeks	phenotype	HPO
C3839753	Abnormality of nail of toe	phenotype	HPO
C4020847	Abnormality of pelvic girdle bone morphology	phenotype	HPO
C4020855	Respiratory function loss	phenotype	HPO
C4020875	Mental and motor retardation	phenotype	HPO
C4021782	Abnormality of the fingernails	phenotype	HPO
C4021787	Abnormal diaphysis morphology	phenotype	HPO
C4021790	Abnormality of the skeletal system	phenotype	BEFREE
C4021792	Abnormality of the clavicle	phenotype	HPO
C4023986	Broad phalanx of the toes	phenotype	HPO
C4025814	Abnormality of the metaphysis	phenotype	HPO
C4225376	SENIOR-LOKEN SYNDROME 8	disease	CLINVAR;UNIPROT
C4277690	Ciliopathies	group	BEFREE;GENOMICS_ENGLAND;MGD
C4280567	Abnormal skeletal development	phenotype	HPO
C4280606	Hanging skin	phenotype	HPO
C4280611	Decreased size of teeth	phenotype	HPO
C4280612	Decreased width of tooth	phenotype	HPO
C4280647	Hypertrophy of cheeks	phenotype	HPO
C4280648	Hyperplasia of cheeks	phenotype	HPO
C4280652	Prominent back of the head	phenotype	HPO
C4280653	Turridolichocephaly	disease	HPO
C4280654	Narrow skull shape	disease	HPO
C4280655	Narrow head shape	disease	HPO
C4280656	Narrow cranium shape	disease	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000902	cell morphogenesis	IEA
GO:0001701	in utero embryonic development	IEA
GO:0008406	gonad development	IEA
GO:0030326	embryonic limb morphogenesis	IEA
GO:0031076	embryonic camera-type eye development	IEA
GO:0035721	intraciliary retrograde transport	IMP
GO:0035721	intraciliary retrograde transport	IBA
GO:0035735	intraciliary transport involved in cilium assembly	TAS
GO:0042471	ear morphogenesis	IEA
GO:0048701	embryonic cranial skeleton morphogenesis	IEA
GO:0050877	nervous system process	IEA
GO:0055123	digestive system development	IEA
GO:0060271	cilium assembly	IBA
GO:0060830	ciliary receptor clustering involved in smoothened signaling pathway	IEA
GO:0060831	smoothened signaling pathway involved in dorsal/ventral neural tube patterning	IEA
GO:0061055	myotome development	IEA
GO:0065003	protein-containing complex assembly	IMP
GO:1903441	protein localization to ciliary membrane	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0001750	photoreceptor outer segment	IEA
GO:0005737	cytoplasm	IEA
GO:0005856	cytoskeleton	IEA
GO:0005929	cilium	IBA
GO:0005929	cilium	TAS
GO:0030991	intraciliary transport particle A	IDA
GO:0030991	intraciliary transport particle A	IBA
GO:0031514	motile cilium	ISS
GO:0032391	photoreceptor connecting cilium	ISS
GO:0097542	ciliary tip	TAS
GO:0097730	non-motile cilium	ISS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-1852241	Organelle biogenesis and maintenance	TAS
R-HSA-5358351	Signaling by Hedgehog	TAS
R-HSA-5610787	Hedgehog 'off' state	TAS
R-HSA-5617833	Cilium Assembly	TAS
R-HSA-5620924	Intraflagellar transport	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of WDR19 mRNA	28628672
D000082	Acetaminophen	Acetaminophen results in increased expression of WDR19 mRNA	21420995; 22230336;
D000082	Acetaminophen	Acetaminophen affects the expression of WDR19 mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of WDR19 intron	30157460
D000393	Air Pollutants	Air Pollutants analog results in decreased expression of WDR19 mRNA	21757418
D000661	Amphetamine	Amphetamine results in increased expression of WDR19 mRNA	30779732
D001151	Arsenic	Arsenic affects the methylation of WDR19 gene	25304211
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of WDR19 mRNA	20458559
D000077237	Arsenic Trioxide	Arsenic Trioxide results in increased expression of WDR19 mRNA	27829220
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of WDR19 mRNA	22316170
C006780	bisphenol A	bisphenol A results in increased expression of WDR19 mRNA	29275510
C006780	bisphenol A	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of WDR19 mRNA	28628672
C006780	bisphenol A	bisphenol A results in decreased expression of WDR19 mRNA	17706920
C006780	bisphenol A	LHB protein affects the reaction [bisphenol A results in decreased expression of WDR19 mRNA]	17706920
C006780	bisphenol A	bisphenol A results in decreased expression of WDR19 mRNA	25181051; 30816183;
C074702	chromium hexavalent ion	chromium hexavalent ion results in decreased expression of WDR19 mRNA	30690063
D002994	Clofibrate	Clofibrate results in decreased expression of WDR19 mRNA	23811191
D016572	Cyclosporine	Cyclosporine results in increased expression of WDR19 mRNA	20106945
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of WDR19 mRNA	28628672
C000944	dicrotophos	dicrotophos results in decreased expression of WDR19 mRNA	28302478
D004317	Doxorubicin	Doxorubicin results in decreased expression of WDR19 mRNA	29803840
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of WDR19 mRNA	22079256
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of WDR19 mRNA	17555576
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of WDR19 mRNA	23129252
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in increased expression of WDR19 mRNA	23649840
C069837	fullerene C60	fullerene C60 results in decreased expression of WDR19 mRNA	19167457
C004312	glycidol	glycidol results in increased expression of WDR19 mRNA	24915197
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of WDR19 mRNA	28628672
D008694	Methamphetamine	Methamphetamine results in decreased expression of WDR19 mRNA	29802913
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of WDR19 mRNA	23649840
D010936	Plant Extracts	Plant Extracts results in increased expression of WDR19 mRNA	23557933
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of WDR19 mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of WDR19 mRNA	22079256; 22714537;
D011192	Potassium Dichromate	Potassium Dichromate results in increased expression of WDR19 mRNA	23608068
D011374	Progesterone	Progesterone results in increased expression of WDR19 mRNA	23012394; 23018184;
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of WDR19 mRNA	24780913
D012402	Rotenone	Rotenone results in increased expression of WDR19 mRNA	19013527
C513635	S-2-pentyl-4-pentynoic hydroxamic acid	S-2-pentyl-4-pentynoic hydroxamic acid results in increased expression of WDR19 mRNA	21427059
D012643	Selenium	[Selenium co-treated with Vitamin E] results in decreased expression of WDR19 mRNA	19244175
D012643	Selenium	Selenium results in decreased expression of WDR19 mRNA	19244175
D012822	Silicon Dioxide	Silicon Dioxide results in decreased expression of WDR19 mRNA	25351596
C017947	sodium arsenite	sodium arsenite results in decreased expression of WDR19 mRNA	28595984
D013629	Tamoxifen	Tamoxifen affects the expression of WDR19 mRNA	17555576
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of WDR19 mRNA	24680724
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of WDR19 mRNA	22298810
D019284	Thapsigargin	Thapsigargin results in increased expression of WDR19 protein	24648495
C009495	titanium dioxide	titanium dioxide results in increased expression of WDR19 mRNA	23557971
C012589	trichostatin A	trichostatin A results in increased expression of WDR19 mRNA	28542535
D014635	Valproic Acid	Valproic Acid results in decreased methylation of WDR19 gene	29154799
D014635	Valproic Acid	Valproic Acid results in increased expression of WDR19 mRNA	19101580; 29154799;
D014635	Valproic Acid	Valproic Acid results in increased expression of WDR19 mRNA	21427059
D001335	Vehicle Emissions	Vehicle Emissions affects the methylation of WDR19 gene	25560391
D014810	Vitamin E	[Selenium co-treated with Vitamin E] results in decreased expression of WDR19 mRNA	19244175
D014810	Vitamin E	Vitamin E results in decreased expression of WDR19 mRNA	19244175

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0966	Cell projection
KW-1186	Ciliopathy
KW-0969	Cilium
KW-0970	Cilium biogenesis/degradation
KW-0963	Cytoplasm
KW-0206	Cytoskeleton
KW-0225	Disease mutation
KW-0038	Ectodermal dysplasia
KW-0901	Leber congenital amaurosis
KW-0983	Nephronophthisis
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0677	Repeat
KW-0980	Senior-Loken syndrome
KW-0802	TPR repeat
KW-0853	WD repeat

Interpro

InterPro ID	InterPro Term
IPR011990	TPR-like_helical_dom_sf
IPR015943	WD40/YVTN_repeat-like_dom_sf
IPR001680	WD40_repeat
IPR017986	WD40_repeat_dom
IPR040379	WDR19/dyf-2
IPR039468	WDR19_WD40_rpt

PROSITE

PROSITE ID	PROSITE Term
PS50294	WD_REPEATS_REGION

Pfam

Pfam ID	Pfam Term
PF15911	WD40_3

Gene: WDR19

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction