CleftGeneDB-Search

Gene: CLPTM1

Basic information

Tag	Content
Uniprot ID	O96005; B3KQH2; B4DDS3; B4E2X9; B7Z9X9; F5H8J3; Q53ET6; Q9BSS5;
Entrez ID	1209
Genbank protein ID	AAP35926.1; BAG65291.1; BAG56834.1; AAC98151.1; AAH12359.1; BAH14465.1; AAH04865.1; BAG52034.1; EAW57314.1; BAD97273.1; AAC97420.1;
Genbank nucleotide ID	NM_001294.3; NM_001282176.1; NM_001282175.1;
Ensembl protein ID	ENSP00000443192; ENSP00000336994; ENSP00000442011;
Ensembl nucleotide ID	ENSG00000104853
Gene name	Cleft lip and palate transmembrane protein 1
Gene symbol	CLPTM1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	16122939
Functional description	May play a role in T-cell development.
Sequence	MAAAQEADGA RSAVVAAGGG SSGQVTSNGS IGRDPPAETQ PQNPPAQPAP NAWQVIKGVL 60 FRIFIIWAIS SWFRRGPAPQ DQAGPGGAPR VASRNLFPKD TLMNLHVYIS EHEHFTDFNA 120 TSALFWEQHD LVYGDWTSGE NSDGCYEHFA ELDIPQSVQQ NGSIYIHVYF TKSGFHPDPR 180 QKALYRRLAT VHMSRMINKY KRRRFQKTKN LLTGETEADP EMIKRAEDYG PVEVISHWHP 240 NITINIVDDH TPWVKGSVPP PLDQYVKFDA VSGDYYPIIY FNDYWNLQKD YYPINESLAS 300 LPLRVSFCPL SLWRWQLYAA QSTKSPWNFL GDELYEQSDE EQDSVKVALL ETNPYLLALT 360 IIVSIVHSVF EFLAFKNDIQ FWNSRQSLEG LSVRSVFFGV FQSFVVLLYI LDNETNFVVQ 420 VSVFIGVLID LWKITKVMDV RLDREHRVAG IFPRLSFKDK STYIESSTKV YDDMAFRYLS 480 WILFPLLGCY AVYSLLYLEH KGWYSWVLSM LYGFLLTFGF ITMTPQLFIN YKLKSVAHLP 540 WRMLTYKALN TFIDDLFAFV IKMPVMYRIG CLRDDVVFFI YLYQRWIYRV DPTRVNEFGM 600 SGEDPTAAAP VAEVPTAAGA LTPTPAPTTT TATREEASTS LPTKPTQGAS SASEPQEAPP 660 KPAEDKKKD 669

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	Species	Evidence	Details
1:1 ortholog	CLPTM1		A0A452DSC6	Capra hircus	Prediction	More>>
1:1 ortholog	CLPTM1	1209	O96005	Homo sapiens	Publication	More>>
1:1 ortholog	Clptm1	56457	Q8VBZ3	Mus musculus	Prediction	More>>
1:1 ortholog	CLPTM1		A0A2I3TN30	Pan troglodytes	Prediction	More>>
1:1 ortholog	CLPTM1		F1RM47	Sus scrofa	Prediction	More>>
1:1 ortholog	CLPTM1		G1T1T8	Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Clptm1	292696	B2RYF6	Rattus norvegicus	Prediction	More>>
1:1 ortholog	clptm1	795480	F1R5K1	Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
CLPTM1	IVS7-10G>A;	PCR and direct sequencing	16122939
CLPTM1	p.Gly331Gly;	PCR and direct sequencing	16122939
CLPTM1	p.Ala88Ala;	PCR and direct sequencing	16122939
CLPTM1	p.Pro309Pro	PCR and direct sequencing	16122939

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1000005480	p.Ala2Val	missense variant	-	NC_000019.10:g.44955400C>T	TOPMed,gnomAD
rs1242961099	p.Gln5Glu	missense variant	-	NC_000019.10:g.44955408C>G	gnomAD
rs998710713	p.Ala7Val	missense variant	-	NC_000019.10:g.44955415C>T	TOPMed,gnomAD
rs1233778279	p.Asp8Tyr	missense variant	-	NC_000019.10:g.44955417G>T	gnomAD
rs1390106775	p.Asp8Glu	missense variant	-	NC_000019.10:g.44955419C>G	TOPMed
rs981082621	p.Gly9Ala	missense variant	-	NC_000019.10:g.44955421G>C	TOPMed,gnomAD
rs760499739	p.Ala10Thr	missense variant	-	NC_000019.10:g.44955423G>A	ExAC,TOPMed,gnomAD
rs1272185967	p.Ala10Val	missense variant	-	NC_000019.10:g.44955424C>T	TOPMed,gnomAD
rs760499739	p.Ala10Pro	missense variant	-	NC_000019.10:g.44955423G>C	ExAC,TOPMed,gnomAD
rs760499739	p.Ala10Ser	missense variant	-	NC_000019.10:g.44955423G>T	ExAC,TOPMed,gnomAD
rs768262557	p.Arg11Pro	missense variant	-	NC_000019.10:g.44955427G>C	ExAC
rs1206048137	p.Arg11Cys	missense variant	-	NC_000019.10:g.44955426C>T	TOPMed,gnomAD
rs1210527843	p.Ser12Asn	missense variant	-	NC_000019.10:g.44955430G>A	TOPMed
rs1244424165	p.Ala13Thr	missense variant	-	NC_000019.10:g.44955432G>A	gnomAD
rs962978211	p.Val14Met	missense variant	-	NC_000019.10:g.44955435G>A	TOPMed,gnomAD
rs1193806194	p.Gly18Arg	missense variant	-	NC_000019.10:g.44955447G>A	gnomAD
rs980948842	p.Gly18Ala	missense variant	-	NC_000019.10:g.44955448G>C	TOPMed,gnomAD
rs980948842	p.Gly18Glu	missense variant	-	NC_000019.10:g.44955448G>A	TOPMed,gnomAD
rs1167320603	p.Gly20Asp	missense variant	-	NC_000019.10:g.44955454G>A	TOPMed,gnomAD
rs926816880	p.Ser21Thr	missense variant	-	NC_000019.10:g.44955457G>C	TOPMed,gnomAD
rs1323064547	p.Ser22Tyr	missense variant	-	NC_000019.10:g.44955460C>A	TOPMed
rs764989831	p.Gln24Arg	missense variant	-	NC_000019.10:g.44955466A>G	ExAC,gnomAD
rs1382086891	p.Gln24Ter	stop gained	-	NC_000019.10:g.44955465C>T	TOPMed
rs908610675	p.Val25Ala	missense variant	-	NC_000019.10:g.44961964T>C	gnomAD
rs141106569	p.Ser27Thr	missense variant	-	NC_000019.10:g.44961970G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs769383719	p.Gly29Asp	missense variant	-	NC_000019.10:g.44961976G>A	ExAC,TOPMed,gnomAD
rs1294556289	p.Ser30Gly	missense variant	-	NC_000019.10:g.44961978A>G	gnomAD
rs144895422	p.Gly32Arg	missense variant	-	NC_000019.10:g.44961984G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1218628804	p.Asp34Glu	missense variant	-	NC_000019.10:g.44961992C>A	TOPMed,gnomAD
rs543191082	p.Asp34Asn	missense variant	-	NC_000019.10:g.44961990G>A	1000Genomes,ExAC,gnomAD
rs368725337	p.Pro35Leu	missense variant	-	NC_000019.10:g.44961994C>T	ESP,ExAC,TOPMed,gnomAD
rs1368217352	p.Pro36Ala	missense variant	-	NC_000019.10:g.44961996C>G	TOPMed
rs753152761	p.Ala37Val	missense variant	-	NC_000019.10:g.44962000C>T	ExAC,TOPMed,gnomAD
rs952278058	p.Ala37Thr	missense variant	-	NC_000019.10:g.44961999G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Glu38Asp	missense variant	-	NC_000019.10:g.44962004G>C	NCI-TCGA
rs1321513147	p.Glu38Lys	missense variant	-	NC_000019.10:g.44962002G>A	TOPMed
rs146651919	p.Thr39Asn	missense variant	-	NC_000019.10:g.44962006C>A	ESP,ExAC,TOPMed,gnomAD
rs146651919	p.Thr39Ile	missense variant	-	NC_000019.10:g.44962006C>T	ESP,ExAC,TOPMed,gnomAD
rs754110120	p.Gln40Arg	missense variant	-	NC_000019.10:g.44962009A>G	ExAC,TOPMed,gnomAD
rs746787209	p.Pro45Leu	missense variant	-	NC_000019.10:g.44962024C>T	ExAC,TOPMed,gnomAD
rs779968386	p.Pro45Ala	missense variant	-	NC_000019.10:g.44962023C>G	ExAC,gnomAD
rs1192393718	p.Ala46Gly	missense variant	-	NC_000019.10:g.44962027C>G	TOPMed
rs781017565	p.Pro48Leu	missense variant	-	NC_000019.10:g.44962033C>T	ExAC,TOPMed,gnomAD
rs1209031890	p.Pro50Leu	missense variant	-	NC_000019.10:g.44962039C>T	TOPMed
rs545425237	p.Asn51Ser	missense variant	-	NC_000019.10:g.44962042A>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn51Thr	missense variant	-	NC_000019.10:g.44962042A>C	NCI-TCGA
rs1237961025	p.Ala52Val	missense variant	-	NC_000019.10:g.44962045C>T	TOPMed,gnomAD
rs772832625	p.Val55Ile	missense variant	-	NC_000019.10:g.44962053G>A	ExAC,TOPMed,gnomAD
rs902926484	p.Lys57Arg	missense variant	-	NC_000019.10:g.44962060A>G	gnomAD
COSM474907	p.Gly58Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44962063G>A	NCI-TCGA Cosmic
rs755981416	p.Phe64Leu	missense variant	-	NC_000019.10:g.44973093C>A	ExAC,gnomAD
rs755981416	p.Phe64Leu	missense variant	-	NC_000019.10:g.44973093C>G	ExAC,gnomAD
rs777780310	p.Ile69Val	missense variant	-	NC_000019.10:g.44973106A>G	ExAC,TOPMed,gnomAD
rs745415184	p.Arg74His	missense variant	-	NC_000019.10:g.44973122G>A	ExAC,TOPMed,gnomAD
rs778256603	p.Arg74Cys	missense variant	-	NC_000019.10:g.44973121C>T	ExAC,gnomAD
rs150314527	p.Arg75Pro	missense variant	-	NC_000019.10:g.44973125G>C	ESP,TOPMed,gnomAD
rs772409757	p.Arg75Gly	missense variant	-	NC_000019.10:g.44973124C>G	ExAC,TOPMed,gnomAD
rs150314527	p.Arg75Gln	missense variant	-	NC_000019.10:g.44973125G>A	ESP,TOPMed,gnomAD
rs772409757	p.Arg75Ter	stop gained	-	NC_000019.10:g.44973124C>T	ExAC,TOPMed,gnomAD
rs1168016183	p.Gly76Val	missense variant	-	NC_000019.10:g.44973128G>T	gnomAD
rs374102168	p.Pro77Leu	missense variant	-	NC_000019.10:g.44973131C>T	ESP,ExAC,TOPMed,gnomAD
rs1370783049	p.Gln80Arg	missense variant	-	NC_000019.10:g.44973140A>G	gnomAD
NCI-TCGA novel	p.Gln80Glu	missense variant	-	NC_000019.10:g.44973139C>G	NCI-TCGA
NCI-TCGA novel	p.Gln82His	missense variant	-	NC_000019.10:g.44973147G>T	NCI-TCGA
rs769001973	p.Gln82Glu	missense variant	-	NC_000019.10:g.44973145C>G	ExAC,TOPMed,gnomAD
rs562193044	p.Ala83Val	missense variant	-	NC_000019.10:g.44973149C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs765533100	p.Pro85Leu	missense variant	-	NC_000019.10:g.44973155C>T	ExAC,gnomAD
rs1251169141	p.Pro85Ser	missense variant	-	NC_000019.10:g.44973154C>T	TOPMed
rs1341560422	p.Gly86Arg	missense variant	-	NC_000019.10:g.44973157G>A	gnomAD
COSM3535818	p.Gly87Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.44973160G>T	NCI-TCGA Cosmic
rs1479614516	p.Ala88Thr	missense variant	-	NC_000019.10:g.44973163G>A	TOPMed
rs1223291329	p.Pro89Leu	missense variant	-	NC_000019.10:g.44973167C>T	TOPMed
rs752680864	p.Arg90His	missense variant	-	NC_000019.10:g.44973170G>A	ExAC,gnomAD
rs1468782536	p.Arg90Cys	missense variant	-	NC_000019.10:g.44973169C>T	gnomAD
rs571801848	p.Val91Ile	missense variant	-	NC_000019.10:g.44973172G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs371543810	p.Ala92Thr	missense variant	-	NC_000019.10:g.44973175G>A	ESP,ExAC,TOPMed,gnomAD
rs371543810	p.Ala92Pro	missense variant	-	NC_000019.10:g.44973175G>C	ESP,ExAC,TOPMed,gnomAD
rs192663448	p.Arg94His	missense variant	-	NC_000019.10:g.44973182G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM3535820	p.Phe97Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44973192C>G	NCI-TCGA Cosmic
rs1462645105	p.Lys99Arg	missense variant	-	NC_000019.10:g.44973197A>G	gnomAD
rs779604950	p.Leu102Ter	stop gained	-	NC_000019.10:g.44973206T>A	ExAC,gnomAD
rs138504126	p.Asn104His	missense variant	-	NC_000019.10:g.44974439A>C	ESP,ExAC,TOPMed,gnomAD
rs1484656105	p.His106Tyr	missense variant	-	NC_000019.10:g.44974445C>T	gnomAD
COSM6085367	p.His106Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44974446A>T	NCI-TCGA Cosmic
rs749506329	p.Glu113Lys	missense variant	-	NC_000019.10:g.44974466G>A	ExAC,TOPMed,gnomAD
rs774534426	p.His114Gln	missense variant	-	NC_000019.10:g.44974471C>G	ExAC,gnomAD
NCI-TCGA novel	p.Phe118Leu	missense variant	-	NC_000019.10:g.44974483C>A	NCI-TCGA
rs750258939	p.Asn119Ser	missense variant	-	NC_000019.10:g.44974485A>G	ExAC,TOPMed,gnomAD
rs750258939	p.Asn119Thr	missense variant	-	NC_000019.10:g.44974485A>C	ExAC,TOPMed,gnomAD
rs761721741	p.Ala120Ser	missense variant	-	NC_000019.10:g.44974487G>T	ExAC,TOPMed,gnomAD
rs761721741	p.Ala120Thr	missense variant	-	NC_000019.10:g.44974487G>A	ExAC,TOPMed,gnomAD
rs750231038	p.Thr121Ala	missense variant	-	NC_000019.10:g.44974490A>G	ExAC,gnomAD
rs1376192635	p.Thr121Met	missense variant	-	NC_000019.10:g.44974491C>T	gnomAD
rs755667948	p.Ser122Leu	missense variant	-	NC_000019.10:g.44974494C>T	ExAC,TOPMed,gnomAD
rs141421531	p.Ala123Ser	missense variant	-	NC_000019.10:g.44974496G>T	ESP,TOPMed
rs1392118815	p.Ala123Val	missense variant	-	NC_000019.10:g.44974497C>T	gnomAD
rs779689343	p.Asp130Asn	missense variant	-	NC_000019.10:g.44974517G>A	ExAC,TOPMed,gnomAD
rs200975575	p.Val132Leu	missense variant	-	NC_000019.10:g.44974523G>C	ExAC,TOPMed,gnomAD
rs745875304	p.Asp135Asn	missense variant	-	NC_000019.10:g.44974532G>A	ExAC,gnomAD
COSM74179	p.Trp136Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44974537G>T	NCI-TCGA Cosmic
COSM6151507	p.Gly139Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44974544G>T	NCI-TCGA Cosmic
rs773018110	p.Glu140Asp	missense variant	-	NC_000019.10:g.44974549G>C	ExAC,gnomAD
rs765124173	p.Glu140Lys	missense variant	-	NC_000019.10:g.44974547G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu140Asp	missense variant	-	NC_000019.10:g.44974549G>T	NCI-TCGA
COSM3797230	p.Asp143Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44974557A>G	NCI-TCGA Cosmic
rs1353938569	p.Gly144Val	missense variant	-	NC_000019.10:g.44974560G>T	gnomAD
COSM3389128	p.Gly144Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44974559G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Cys145Phe	missense variant	-	NC_000019.10:g.44974563G>T	NCI-TCGA
rs1333606656	p.Tyr146Cys	missense variant	-	NC_000019.10:g.44974566A>G	gnomAD
rs1449602757	p.Glu147Lys	missense variant	-	NC_000019.10:g.44974568G>A	TOPMed
NCI-TCGA novel	p.Glu147Ter	stop gained	-	NC_000019.10:g.44974568G>T	NCI-TCGA
COSM4079239	p.Glu147Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44974569A>G	NCI-TCGA Cosmic
rs1209353903	p.Leu152Phe	missense variant	-	NC_000019.10:g.44974583C>T	TOPMed
rs1271685356	p.Asp153Glu	missense variant	-	NC_000019.10:g.44974588T>G	gnomAD
rs756606533	p.Asp153Asn	missense variant	-	NC_000019.10:g.44974586G>A	ExAC,TOPMed,gnomAD
rs1307561603	p.Ile154Val	missense variant	-	NC_000019.10:g.44974589A>G	TOPMed,gnomAD
rs778166767	p.Ile154Met	missense variant	-	NC_000019.10:g.44974591C>G	ExAC,gnomAD
rs754197939	p.Gln156Arg	missense variant	-	NC_000019.10:g.44974596A>G	ExAC,gnomAD
rs1310542802	p.Val158Ile	missense variant	-	NC_000019.10:g.44977346G>A	gnomAD
rs779396307	p.Gln159Arg	missense variant	-	NC_000019.10:g.44977350A>G	ExAC,TOPMed,gnomAD
rs750857131	p.Gln160His	missense variant	-	NC_000019.10:g.44977354G>C	ExAC,gnomAD
rs1222459462	p.Gly162Ser	missense variant	-	NC_000019.10:g.44977358G>A	gnomAD
rs1283947493	p.Ser163Pro	missense variant	-	NC_000019.10:g.44977361T>C	gnomAD
rs1485378236	p.Val168Ile	missense variant	-	NC_000019.10:g.44977376G>A	gnomAD
rs781310487	p.Tyr169His	missense variant	-	NC_000019.10:g.44977379T>C	ExAC,gnomAD
COSM1317058	p.Lys172Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44977389A>G	NCI-TCGA Cosmic
rs1157793562	p.Phe175Ser	missense variant	-	NC_000019.10:g.44977398T>C	gnomAD
rs1421508090	p.Asp178Gly	missense variant	-	NC_000019.10:g.44977407A>G	gnomAD
rs1171663505	p.Pro179Ser	missense variant	-	NC_000019.10:g.44977409C>T	gnomAD
rs770897370	p.Arg180Gln	missense variant	-	NC_000019.10:g.44977413G>A	ExAC,TOPMed,gnomAD
rs1374367230	p.Arg180Trp	missense variant	-	NC_000019.10:g.44977412C>T	gnomAD
rs1395548068	p.Ala183Ser	missense variant	-	NC_000019.10:g.44977421G>T	TOPMed
rs774095864	p.Leu184Val	missense variant	-	NC_000019.10:g.44977424C>G	ExAC,gnomAD
rs771699515	p.Arg186Leu	missense variant	-	NC_000019.10:g.44977431G>T	ExAC,TOPMed,gnomAD
rs137904804	p.Arg186Cys	missense variant	-	NC_000019.10:g.44977430C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs771699515	p.Arg186His	missense variant	-	NC_000019.10:g.44977431G>A	ExAC,TOPMed,gnomAD
rs1243025738	p.Arg187Gln	missense variant	-	NC_000019.10:g.44977434G>A	gnomAD
rs1246167374	p.Arg187Trp	missense variant	-	NC_000019.10:g.44977433C>T	TOPMed
rs1278787270	p.Ala189Thr	missense variant	-	NC_000019.10:g.44977439G>A	gnomAD
NCI-TCGA novel	p.Thr190Ile	missense variant	-	NC_000019.10:g.44977443C>T	NCI-TCGA
rs1347740393	p.Val191Ile	missense variant	-	NC_000019.10:g.44977445G>A	gnomAD
rs1201129095	p.His192Arg	missense variant	-	NC_000019.10:g.44977449A>G	gnomAD
rs79721511	p.Met193Leu	missense variant	-	NC_000019.10:g.44977451A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs79721511	p.Met193Val	missense variant	-	NC_000019.10:g.44977451A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776330038	p.Arg195Gln	missense variant	-	NC_000019.10:g.44977458G>A	ExAC,gnomAD
rs763683339	p.Arg195Trp	missense variant	-	NC_000019.10:g.44977457C>T	ExAC,gnomAD
NCI-TCGA novel	p.Met196Ile	missense variant	-	NC_000019.10:g.44985219G>A	NCI-TCGA
rs1170999985	p.Ile197Asn	missense variant	-	NC_000019.10:g.44985221T>A	gnomAD
rs773592797	p.Arg202Leu	missense variant	-	NC_000019.10:g.44985236G>T	ExAC,TOPMed,gnomAD
rs767271081	p.Arg202Cys	missense variant	-	NC_000019.10:g.44985235C>T	gnomAD
rs773592797	p.Arg202His	missense variant	-	NC_000019.10:g.44985236G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg204Gln	missense variant	-	NC_000019.10:g.44985242G>A	NCI-TCGA
NCI-TCGA novel	p.Phe205Tyr	missense variant	-	NC_000019.10:g.44985245T>A	NCI-TCGA
COSM998102	p.Thr216Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44985277A>G	NCI-TCGA Cosmic
COSM4929474	p.Ala218Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44985283G>A	NCI-TCGA Cosmic
rs375955885	p.Asp219Glu	missense variant	-	NC_000019.10:g.44985288C>A	ESP,ExAC,TOPMed,gnomAD
COSM1394517	p.Asp219Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44985287A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg225Trp	missense variant	-	NC_000019.10:g.44986455A>T	NCI-TCGA
NCI-TCGA novel	p.Glu227Lys	missense variant	-	NC_000019.10:g.44986461G>A	NCI-TCGA
rs751251868	p.Asp228Tyr	missense variant	-	NC_000019.10:g.44986464G>T	ExAC
rs1186826260	p.Asp228Gly	missense variant	-	NC_000019.10:g.44986465A>G	gnomAD
rs999084779	p.Tyr229His	missense variant	-	NC_000019.10:g.44986467T>C	TOPMed
rs1256457499	p.Tyr229Cys	missense variant	-	NC_000019.10:g.44986468A>G	gnomAD
COSM712378	p.Glu233Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.44986479G>T	NCI-TCGA Cosmic
rs754823093	p.Ile244Val	missense variant	-	NC_000019.10:g.44986512A>G	ExAC,TOPMed,gnomAD
COSM3535825	p.Asn245Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44986516A>G	NCI-TCGA Cosmic
rs146761034	p.Asp248Asn	missense variant	-	NC_000019.10:g.44986524G>A	ESP,TOPMed
rs1458627225	p.Asp249Asn	missense variant	-	NC_000019.10:g.44986527G>A	gnomAD
rs1304684170	p.Thr251Met	missense variant	-	NC_000019.10:g.44986534C>T	gnomAD
rs1452638022	p.Pro252Leu	missense variant	-	NC_000019.10:g.44986537C>T	TOPMed
COSM1712493	p.Pro252Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44986536C>T	NCI-TCGA Cosmic
rs1298268625	p.Val254Leu	missense variant	-	NC_000019.10:g.44986542G>C	TOPMed
NCI-TCGA novel	p.Pro260LeuPheSerTerUnk	frameshift	-	NC_000019.10:g.44986557C>-	NCI-TCGA
rs774928071	p.Asp263Asn	missense variant	-	NC_000019.10:g.44986569G>A	ExAC,gnomAD
rs148911976	p.Gln264His	missense variant	-	NC_000019.10:g.44986574A>T	ESP,ExAC,TOPMed,gnomAD
rs1391095934	p.Val266Met	missense variant	-	NC_000019.10:g.44987181G>A	TOPMed
rs1333121472	p.Ala270Val	missense variant	-	NC_000019.10:g.44987194C>T	gnomAD
rs899497370	p.Ala270Thr	missense variant	-	NC_000019.10:g.44987193G>A	TOPMed,gnomAD
rs1435749475	p.Val271Met	missense variant	-	NC_000019.10:g.44987196G>A	TOPMed,gnomAD
rs375159260	p.Gly273Ser	missense variant	-	NC_000019.10:g.44987202G>A	ESP,ExAC,gnomAD
rs1179033404	p.Asp274His	missense variant	-	NC_000019.10:g.44987205G>C	TOPMed
rs150943861	p.Ile279Val	missense variant	-	NC_000019.10:g.44987220A>G	ESP,ExAC,TOPMed,gnomAD
rs768702439	p.Phe281Leu	missense variant	-	NC_000019.10:g.44987226T>C	ExAC,gnomAD
COSM4079249	p.Asn282Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44987229A>G	NCI-TCGA Cosmic
rs1269101904	p.Tyr284Ter	stop gained	-	NC_000019.10:g.44987236dup	TOPMed
rs776912395	p.Asp290Tyr	missense variant	-	NC_000019.10:g.44987253G>T	ExAC,TOPMed,gnomAD
rs762003789	p.Tyr292Ser	missense variant	-	NC_000019.10:g.44987260A>C	ExAC
rs199925354	p.Glu296Lys	missense variant	-	NC_000019.10:g.44987271G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu296Asp	missense variant	-	NC_000019.10:g.44987273G>C	NCI-TCGA
COSM712376	p.Glu296Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.44987271G>T	NCI-TCGA Cosmic
rs773471647	p.Ala299Thr	missense variant	-	NC_000019.10:g.44987280G>A	ExAC,TOPMed,gnomAD
rs1191610329	p.Pro302Ser	missense variant	-	NC_000019.10:g.44987289C>T	gnomAD
rs1478311299	p.Leu303Phe	missense variant	-	NC_000019.10:g.44987292C>T	gnomAD
rs372588500	p.Arg304His	missense variant	-	NC_000019.10:g.44987296G>A	ESP,ExAC,TOPMed,gnomAD
rs755945704	p.Arg304Cys	missense variant	-	NC_000019.10:g.44987295C>T	ExAC,gnomAD
rs376613031	p.Val305Phe	missense variant	-	NC_000019.10:g.44987298G>T	ESP,ExAC,TOPMed,gnomAD
rs376613031	p.Val305Ile	missense variant	-	NC_000019.10:g.44987298G>A	ESP,ExAC,TOPMed,gnomAD
COSM3535827	p.Ser306Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44987302C>T	NCI-TCGA Cosmic
rs1428485802	p.Phe307Ser	missense variant	-	NC_000019.10:g.44987305T>C	gnomAD
COSM439771	p.Phe307Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44987306C>G	NCI-TCGA Cosmic
rs780552418	p.Ser311Thr	missense variant	-	NC_000019.10:g.44987316T>A	ExAC,gnomAD
rs769057466	p.Arg314His	missense variant	-	NC_000019.10:g.44987326G>A	ExAC,gnomAD
rs1355160270	p.Ala320Asp	missense variant	-	NC_000019.10:g.44987344C>A	gnomAD
rs769944481	p.Thr323Ile	missense variant	-	NC_000019.10:g.44987353C>T	ExAC,gnomAD
rs748376529	p.Thr323Ser	missense variant	-	NC_000019.10:g.44987352A>T	ExAC,gnomAD
rs1166081433	p.Ser325Leu	missense variant	-	NC_000019.10:g.44987359C>T	gnomAD
NCI-TCGA novel	p.Ser325Thr	missense variant	-	NC_000019.10:g.44987358T>A	NCI-TCGA
rs767499149	p.Asn328Ser	missense variant	-	NC_000019.10:g.44987368A>G	ExAC,TOPMed,gnomAD
rs775565145	p.Phe329Leu	missense variant	-	NC_000019.10:g.44987372C>A	ExAC,gnomAD
rs763928897	p.Gly331Asp	missense variant	-	NC_000019.10:g.44987377G>A	ExAC,gnomAD
rs756893559	p.Asp332Asn	missense variant	-	NC_000019.10:g.44987379G>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu333Lys	missense variant	-	NC_000019.10:g.44987382G>A	NCI-TCGA
rs749877186	p.Tyr335Asn	missense variant	-	NC_000019.10:g.44987388T>A	ExAC,gnomAD
rs757907129	p.Tyr335Cys	missense variant	-	NC_000019.10:g.44987389A>G	ExAC,gnomAD
rs375387209	p.Glu336Lys	missense variant	-	NC_000019.10:g.44987391G>A	ESP,ExAC,TOPMed,gnomAD
rs1245967389	p.Gln337Pro	missense variant	-	NC_000019.10:g.44987395A>C	TOPMed
COSM3797233	p.Glu340Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44987403G>A	NCI-TCGA Cosmic
rs755484031	p.Gln342Ter	stop gained	-	NC_000019.10:g.44987409C>T	ExAC,gnomAD
rs755484031	p.Gln342Glu	missense variant	-	NC_000019.10:g.44987409C>G	ExAC,gnomAD
rs781585955	p.Val345Met	missense variant	-	NC_000019.10:g.44987418G>A	ExAC,gnomAD
rs748487644	p.Lys346Asn	missense variant	-	NC_000019.10:g.44987423G>C	ExAC,TOPMed,gnomAD
rs1482109890	p.Val347Leu	missense variant	-	NC_000019.10:g.44988080G>T	gnomAD
NCI-TCGA novel	p.Glu351Lys	missense variant	-	NC_000019.10:g.44988092G>A	NCI-TCGA
rs757506581	p.Asn353Ser	missense variant	-	NC_000019.10:g.44988099A>G	ExAC,TOPMed,gnomAD
rs1464786614	p.Ala358Thr	missense variant	-	NC_000019.10:g.44988113G>A	gnomAD
rs779015086	p.Ala358Val	missense variant	-	NC_000019.10:g.44988114C>T	ExAC,TOPMed,gnomAD
rs780237399	p.Ile361Val	missense variant	-	NC_000019.10:g.44988122A>G	ExAC,gnomAD
rs748051771	p.Ile362Val	missense variant	-	NC_000019.10:g.44988125A>G	ExAC,gnomAD
rs1308589679	p.Val363Met	missense variant	-	NC_000019.10:g.44988128G>A	gnomAD
rs772947537	p.Ser364Cys	missense variant	-	NC_000019.10:g.44988132C>G	ExAC,TOPMed,gnomAD
rs747000562	p.Ile365Val	missense variant	-	NC_000019.10:g.44988134A>G	ExAC,TOPMed,gnomAD
rs747000562	p.Ile365Phe	missense variant	-	NC_000019.10:g.44988134A>T	ExAC,TOPMed,gnomAD
rs1484002460	p.Val366Ile	missense variant	-	NC_000019.10:g.44988137G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ser368Ile	missense variant	-	NC_000019.10:g.44988144G>T	NCI-TCGA
rs1205983888	p.Val369Ile	missense variant	-	NC_000019.10:g.44988146G>A	gnomAD
rs1457762279	p.Glu371Lys	missense variant	-	NC_000019.10:g.44988152G>A	TOPMed,gnomAD
rs1275472013	p.Asp378Gly	missense variant	-	NC_000019.10:g.44990395A>G	gnomAD
NCI-TCGA novel	p.Ile379Met	missense variant	-	NC_000019.10:g.44990399C>G	NCI-TCGA
rs751578355	p.Ser384Ile	missense variant	-	NC_000019.10:g.44990413G>T	ExAC,gnomAD
rs1191545366	p.Arg385Leu	missense variant	-	NC_000019.10:g.44990416G>T	gnomAD
rs1191545366	p.Arg385Gln	missense variant	-	NC_000019.10:g.44990416G>A	gnomAD
rs755048212	p.Arg385Trp	missense variant	-	NC_000019.10:g.44990415C>T	ExAC,gnomAD
rs1191545366	p.Arg385Pro	missense variant	-	NC_000019.10:g.44990416G>C	gnomAD
COSM1325196	p.Gln386His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44990420G>C	NCI-TCGA Cosmic
rs565094329	p.Ser387Pro	missense variant	-	NC_000019.10:g.44990421T>C	1000Genomes,ExAC
COSM998110	p.Leu388Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44990424C>A	NCI-TCGA Cosmic
rs959494770	p.Glu389Lys	missense variant	-	NC_000019.10:g.44990427G>A	TOPMed,gnomAD
COSM6151502	p.Ser392Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44990437C>G	NCI-TCGA Cosmic
rs757259973	p.Val393Leu	missense variant	-	NC_000019.10:g.44990439G>C	ExAC,TOPMed,gnomAD
COSM1394519	p.Val393Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44990439G>A	NCI-TCGA Cosmic
rs777780659	p.Arg394Ser	missense variant	-	NC_000019.10:g.44990442C>A	ExAC,gnomAD
rs745698927	p.Arg394His	missense variant	-	NC_000019.10:g.44990443G>A	ExAC,TOPMed,gnomAD
rs777780659	p.Arg394Cys	missense variant	-	NC_000019.10:g.44990442C>T	ExAC,gnomAD
rs779855499	p.Val396Ile	missense variant	-	NC_000019.10:g.44990448G>A	ExAC,TOPMed,gnomAD
rs138934999	p.Phe397Val	missense variant	-	NC_000019.10:g.44990451T>G	ESP,ExAC,TOPMed,gnomAD
rs369829319	p.Gly399Ser	missense variant	-	NC_000019.10:g.44990457G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs770360744	p.Val400Leu	missense variant	-	NC_000019.10:g.44990460G>C	ExAC,gnomAD
rs770360744	p.Val400Ile	missense variant	-	NC_000019.10:g.44990460G>A	ExAC,gnomAD
rs547487438	p.Val405Met	missense variant	-	NC_000019.10:g.44990475G>A	1000Genomes,ExAC,gnomAD
rs1161677576	p.Val406Gly	missense variant	-	NC_000019.10:g.44990479T>G	TOPMed
rs149437878	p.Val406Ile	missense variant	-	NC_000019.10:g.44990478G>A	ESP,ExAC,TOPMed,gnomAD
rs1447867400	p.Leu407Val	missense variant	-	NC_000019.10:g.44990481C>G	gnomAD
rs759807366	p.Tyr409His	missense variant	-	NC_000019.10:g.44990487T>C	ExAC,gnomAD
rs908170733	p.Asp412Glu	missense variant	-	NC_000019.10:g.44990498C>A	TOPMed
COSM3535831	p.Asp412Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44990496G>A	NCI-TCGA Cosmic
rs1418637447	p.Asn413Ser	missense variant	-	NC_000019.10:g.44990500A>G	gnomAD
rs1194778255	p.Asn413Tyr	missense variant	-	NC_000019.10:g.44990499A>T	TOPMed
rs1194778255	p.Asn413Asp	missense variant	-	NC_000019.10:g.44990499A>G	TOPMed
rs757094978	p.Glu414Lys	missense variant	-	NC_000019.10:g.44990502G>A	ExAC,gnomAD
rs778925393	p.Thr415Ile	missense variant	-	NC_000019.10:g.44990506C>T	ExAC,TOPMed,gnomAD
rs1402131487	p.Phe417Tyr	missense variant	-	NC_000019.10:g.44990512T>A	gnomAD
rs758206898	p.Val418Met	missense variant	-	NC_000019.10:g.44990514G>A	ExAC,TOPMed,gnomAD
rs571529832	p.Gln420Arg	missense variant	-	NC_000019.10:g.44990521A>G	gnomAD
rs76182866	p.Val423Ile	missense variant	-	NC_000019.10:g.44990529G>A	1000Genomes,ExAC,gnomAD
rs932463797	p.Ile425Leu	missense variant	-	NC_000019.10:g.44990535A>C	TOPMed,gnomAD
rs376872645	p.Ile425Thr	missense variant	-	NC_000019.10:g.44990536T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1373294326	p.Leu431Ile	missense variant	-	NC_000019.10:g.44990553C>A	TOPMed
rs745872343	p.Thr435Ser	missense variant	-	NC_000019.10:g.44990565A>T	ExAC,TOPMed,gnomAD
rs774741551	p.Met438Ile	missense variant	-	NC_000019.10:g.44990576G>A	ExAC,gnomAD
rs767749890	p.Val440Phe	missense variant	-	NC_000019.10:g.44990580G>T	ExAC,TOPMed,gnomAD
rs767749890	p.Val440Ile	missense variant	-	NC_000019.10:g.44990580G>A	ExAC,TOPMed,gnomAD
rs151296794	p.Arg441Gln	missense variant	-	NC_000019.10:g.44990584G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs752663268	p.Arg441Trp	missense variant	-	NC_000019.10:g.44990583C>T	ExAC,TOPMed,gnomAD
rs1251604975	p.Arg444Ter	stop gained	-	NC_000019.10:g.44990856C>T	gnomAD
rs755763918	p.Arg444Gln	missense variant	-	NC_000019.10:g.44990857G>A	ExAC,gnomAD
rs141869236	p.Glu445Asp	missense variant	-	NC_000019.10:g.44990861G>T	ESP,ExAC,TOPMed
rs201593010	p.Arg447Ser	missense variant	-	NC_000019.10:g.44990867G>C	1000Genomes,ExAC,gnomAD
rs757706926	p.Val448Met	missense variant	-	NC_000019.10:g.44990868G>A	ExAC,gnomAD
rs779401160	p.Ala449Pro	missense variant	-	NC_000019.10:g.44990871G>C	ExAC,TOPMed,gnomAD
rs1200912082	p.Gly450Val	missense variant	-	NC_000019.10:g.44990875G>T	gnomAD
rs1438262466	p.Phe452Cys	missense variant	-	NC_000019.10:g.44990881T>G	TOPMed
rs746443345	p.Arg454Cys	missense variant	-	NC_000019.10:g.44990886C>T	ExAC,TOPMed,gnomAD
rs772411056	p.Arg454His	missense variant	-	NC_000019.10:g.44990887G>A	ExAC,TOPMed,gnomAD
rs1464019349	p.Ser456Tyr	missense variant	-	NC_000019.10:g.44990893C>A	gnomAD
rs775764751	p.Ser456Pro	missense variant	-	NC_000019.10:g.44990892T>C	ExAC,gnomAD
rs747220054	p.Phe457Ile	missense variant	-	NC_000019.10:g.44990895T>A	ExAC,gnomAD
rs1235352513	p.Lys458Asn	missense variant	-	NC_000019.10:g.44990900G>C	TOPMed
rs1250756082	p.Lys458Gln	missense variant	-	NC_000019.10:g.44990898A>C	TOPMed,gnomAD
rs376426056	p.Asp459Gly	missense variant	-	NC_000019.10:g.44990902A>G	ESP,ExAC,gnomAD
rs1333156934	p.Ser461Phe	missense variant	-	NC_000019.10:g.44990908C>T	TOPMed
rs1026391756	p.Thr462Met	missense variant	-	NC_000019.10:g.44990911C>T	TOPMed
rs1305457177	p.Ile464Thr	missense variant	-	NC_000019.10:g.44990917T>C	TOPMed
rs950452524	p.Ile464Val	missense variant	-	NC_000019.10:g.44990916A>G	TOPMed,gnomAD
rs766350533	p.Glu465Lys	missense variant	-	NC_000019.10:g.44990919G>A	ExAC,TOPMed,gnomAD
rs1327957623	p.Ser467Leu	missense variant	-	NC_000019.10:g.44990926C>T	gnomAD
rs767313756	p.Lys469Asn	missense variant	-	NC_000019.10:g.44990933A>C	ExAC,gnomAD
rs1355844187	p.Met474Leu	missense variant	-	NC_000019.10:g.44991238A>T	TOPMed
rs764692658	p.Ala475Thr	missense variant	-	NC_000019.10:g.44991241G>A	ExAC,gnomAD
rs749963098	p.Phe476Cys	missense variant	-	NC_000019.10:g.44991245T>G	ExAC,gnomAD
rs200813739	p.Arg477Gln	missense variant	-	NC_000019.10:g.44991248G>A	ExAC,TOPMed,gnomAD
rs200860488	p.Arg477Trp	missense variant	-	NC_000019.10:g.44991247C>T	ESP,ExAC,TOPMed,gnomAD
rs140564801	p.Tyr478Cys	missense variant	-	NC_000019.10:g.44991251A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3535835	p.Ser480Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44991257C>T	NCI-TCGA Cosmic
rs535252761	p.Ile482Val	missense variant	-	NC_000019.10:g.44991262A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ile482Met	missense variant	-	NC_000019.10:g.44991264C>G	NCI-TCGA
rs980051950	p.Pro485Leu	missense variant	-	NC_000019.10:g.44991272C>T	TOPMed,gnomAD
rs749341562	p.Gly488Ala	missense variant	-	NC_000019.10:g.44991281G>C	ExAC,TOPMed,gnomAD
rs1262964144	p.Cys489Tyr	missense variant	-	NC_000019.10:g.44991284G>A	gnomAD
rs1262964144	p.Cys489Phe	missense variant	-	NC_000019.10:g.44991284G>T	gnomAD
rs1236420322	p.Tyr490Cys	missense variant	-	NC_000019.10:g.44991287A>G	TOPMed
rs200044158	p.Val492Ile	missense variant	-	NC_000019.10:g.44991292G>A	ExAC,TOPMed,gnomAD
rs200044158	p.Val492Phe	missense variant	-	NC_000019.10:g.44991292G>T	ExAC,TOPMed,gnomAD
rs373740871	p.Tyr493Cys	missense variant	-	NC_000019.10:g.44991296A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser494Gly	missense variant	-	NC_000019.10:g.44991298A>G	NCI-TCGA
rs911230818	p.Leu498Met	missense variant	-	NC_000019.10:g.44991310C>A	gnomAD
NCI-TCGA novel	p.Glu499Asp	missense variant	-	NC_000019.10:g.44991315G>T	NCI-TCGA
rs1470844531	p.Lys501Arg	missense variant	-	NC_000019.10:g.44991320A>G	gnomAD
rs1168197422	p.Gly502Ser	missense variant	-	NC_000019.10:g.44991322G>A	gnomAD
rs1280035207	p.Trp506Ter	stop gained	-	NC_000019.10:g.44991336G>A	TOPMed
NCI-TCGA novel	p.Trp506Cys	missense variant	-	NC_000019.10:g.44991336G>T	NCI-TCGA
rs762373873	p.Gly513Ser	missense variant	-	NC_000019.10:g.44991355G>A	ExAC,gnomAD
NCI-TCGA novel	p.Thr517Ala	missense variant	-	NC_000019.10:g.44991367A>G	NCI-TCGA
rs764614148	p.Gly519Val	missense variant	-	NC_000019.10:g.44992233G>T	ExAC,gnomAD
rs776982525	p.Gly519Ser	missense variant	-	NC_000019.10:g.44991373G>A	ExAC,TOPMed,gnomAD
rs372059273	p.Thr524Met	missense variant	-	NC_000019.10:g.44992248C>T	ESP
NCI-TCGA novel	p.Gln526Arg	missense variant	-	NC_000019.10:g.44992254A>G	NCI-TCGA
NCI-TCGA novel	p.Leu527Phe	missense variant	-	NC_000019.10:g.44992256C>T	NCI-TCGA
NCI-TCGA novel	p.Ser535Phe	missense variant	-	NC_000019.10:g.44992281C>T	NCI-TCGA
NCI-TCGA novel	p.His538Asn	missense variant	-	NC_000019.10:g.44992289C>A	NCI-TCGA
rs1383322658	p.Leu539Arg	missense variant	-	NC_000019.10:g.44992293T>G	gnomAD
rs1443861133	p.Pro540Ala	missense variant	-	NC_000019.10:g.44992295C>G	gnomAD
rs1163745449	p.Trp541Ter	stop gained	-	NC_000019.10:g.44992299G>A	gnomAD
rs1386548061	p.Trp541Cys	missense variant	-	NC_000019.10:g.44992300G>T	gnomAD
COSM1394525	p.Arg542His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44992302G>A	NCI-TCGA Cosmic
rs778814856	p.Lys547Thr	missense variant	-	NC_000019.10:g.44992317A>C	ExAC
rs1317163343	p.Asn550His	missense variant	-	NC_000019.10:g.44992325A>C	gnomAD
NCI-TCGA novel	p.Phe552Leu	missense variant	-	NC_000019.10:g.44992333C>A	NCI-TCGA
rs1475790997	p.Ile553Val	missense variant	-	NC_000019.10:g.44992334A>G	TOPMed
rs951486100	p.Ala558Thr	missense variant	-	NC_000019.10:g.44992349G>A	-
rs773106239	p.Ile561Val	missense variant	-	NC_000019.10:g.44992358A>G	ExAC,gnomAD
rs748859824	p.Lys562Arg	missense variant	-	NC_000019.10:g.44992362A>G	ExAC,TOPMed,gnomAD
rs369873479	p.Val565Ile	missense variant	-	NC_000019.10:g.44992370G>A	ESP,ExAC,gnomAD
rs1317683689	p.Arg568Gln	missense variant	-	NC_000019.10:g.44992380G>A	gnomAD
rs548487634	p.Gly570Cys	missense variant	-	NC_000019.10:g.44992385G>T	1000Genomes,ExAC,gnomAD
rs548487634	p.Gly570Ser	missense variant	-	NC_000019.10:g.44992385G>A	1000Genomes,ExAC,gnomAD
rs1184109455	p.Arg573Gln	missense variant	-	NC_000019.10:g.44992395G>A	gnomAD
rs200229776	p.Val576Met	missense variant	-	NC_000019.10:g.44992613G>A	ExAC,TOPMed,gnomAD
rs763121084	p.Tyr581Cys	missense variant	-	NC_000019.10:g.44992629A>G	ExAC,TOPMed,gnomAD
rs373676663	p.Leu582Val	missense variant	-	NC_000019.10:g.44992631C>G	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Arg585Trp	missense variant	-	NC_000019.10:g.44992640C>T	NCI-TCGA
rs1269973506	p.Arg585Gln	missense variant	-	NC_000019.10:g.44992641G>A	gnomAD
rs1192867798	p.Ile587Thr	missense variant	-	NC_000019.10:g.44992647T>C	gnomAD
rs759657217	p.Ile587Phe	missense variant	-	NC_000019.10:g.44992646A>T	ExAC,gnomAD
rs753795148	p.Arg589Leu	missense variant	-	NC_000019.10:g.44992653G>T	ExAC,TOPMed,gnomAD
rs1451869340	p.Arg589Cys	missense variant	-	NC_000019.10:g.44992652C>T	gnomAD
rs753795148	p.Arg589His	missense variant	-	NC_000019.10:g.44992653G>A	ExAC,TOPMed,gnomAD
rs1427049786	p.Val590Ile	missense variant	-	NC_000019.10:g.44992655G>A	TOPMed
COSM998112	p.Asp591Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44992658G>A	NCI-TCGA Cosmic
rs1383019489	p.Pro592Leu	missense variant	-	NC_000019.10:g.44992662C>T	gnomAD
rs1381445946	p.Thr593Asn	missense variant	-	NC_000019.10:g.44992665C>A	TOPMed,gnomAD
COSM1394529	p.Arg594Ter	missense variant	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.44992667C>T	NCI-TCGA Cosmic
rs1450349917	p.Glu597Lys	missense variant	-	NC_000019.10:g.44992676G>A	gnomAD
rs1359506612	p.Met600Ile	missense variant	-	NC_000019.10:g.44992687G>A	gnomAD
rs149033841	p.Ser601Asn	missense variant	-	NC_000019.10:g.44992689G>A	ESP,ExAC,TOPMed,gnomAD
rs368031542	p.Glu603Gly	missense variant	-	NC_000019.10:g.44992695A>G	ESP,ExAC,TOPMed,gnomAD
rs746722114	p.Pro605Leu	missense variant	-	NC_000019.10:g.44992701C>T	ExAC,TOPMed,gnomAD
rs1182264047	p.Ala608Thr	missense variant	-	NC_000019.10:g.44992709G>A	gnomAD
rs754494975	p.Ala609Thr	missense variant	-	NC_000019.10:g.44992712G>A	ExAC,TOPMed,gnomAD
rs1362295316	p.Pro610Ser	missense variant	-	NC_000019.10:g.44992715C>T	gnomAD
COSM3535839	p.Pro610Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44992716C>T	NCI-TCGA Cosmic
rs199735762	p.Val611Met	missense variant	-	NC_000019.10:g.44992718G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147801301	p.Glu613Lys	missense variant	-	NC_000019.10:g.44992724G>A	ESP,ExAC,TOPMed,gnomAD
rs771354926	p.Val614Ile	missense variant	-	NC_000019.10:g.44992727G>A	ExAC,TOPMed,gnomAD
rs541453713	p.Pro615His	missense variant	-	NC_000019.10:g.44992731C>A	1000Genomes,gnomAD
NCI-TCGA novel	p.Thr616Ile	missense variant	-	NC_000019.10:g.44992734C>T	NCI-TCGA
rs774543273	p.Ala618Ser	missense variant	-	NC_000019.10:g.44992739G>T	ExAC,TOPMed,gnomAD
rs774543273	p.Ala618Pro	missense variant	-	NC_000019.10:g.44992739G>C	ExAC,TOPMed,gnomAD
rs1334878823	p.Gly619Ala	missense variant	-	NC_000019.10:g.44992743G>C	gnomAD
rs759726819	p.Leu621Phe	missense variant	-	NC_000019.10:g.44992748C>T	ExAC,gnomAD
rs141261045	p.Thr622Met	missense variant	-	NC_000019.10:g.44992752C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141261045	p.Thr622Arg	missense variant	-	NC_000019.10:g.44992752C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1183730239	p.Pro623Leu	missense variant	-	NC_000019.10:g.44992755C>T	gnomAD
rs1462112252	p.Pro623Ser	missense variant	-	NC_000019.10:g.44992754C>T	gnomAD
rs761764037	p.Thr624Lys	missense variant	-	NC_000019.10:g.44992758C>A	ExAC,gnomAD
rs146714101	p.Pro625Leu	missense variant	-	NC_000019.10:g.44992761C>T	ESP,ExAC,TOPMed,gnomAD
rs1418761022	p.Pro625Ser	missense variant	-	NC_000019.10:g.44992760C>T	gnomAD
rs1414398289	p.Ala626Thr	missense variant	-	NC_000019.10:g.44992763G>A	gnomAD
rs148362509	p.Thr629Met	missense variant	-	NC_000019.10:g.44992773C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs754626403	p.Ala632Thr	missense variant	-	NC_000019.10:g.44992781G>A	ExAC,TOPMed,gnomAD
rs1395119344	p.Thr633Ile	missense variant	-	NC_000019.10:g.44992785C>T	gnomAD
rs1391418163	p.Glu635Lys	missense variant	-	NC_000019.10:g.44992790G>A	gnomAD
rs546792040	p.Ala637Ser	missense variant	-	NC_000019.10:g.44992796G>T	1000Genomes,ExAC,gnomAD
rs752168767	p.Thr639Met	missense variant	-	NC_000019.10:g.44992803C>T	ExAC,gnomAD
rs1340496865	p.Leu641Pro	missense variant	-	NC_000019.10:g.44992809T>C	TOPMed
rs140584228	p.Pro642Arg	missense variant	-	NC_000019.10:g.44992812C>G	ESP,ExAC,gnomAD
rs140584228	p.Pro642Leu	missense variant	-	NC_000019.10:g.44992812C>T	ESP,ExAC,gnomAD
rs1212819864	p.Pro642Ala	missense variant	-	NC_000019.10:g.44992811C>G	gnomAD
rs779293110	p.Thr643Ile	missense variant	-	NC_000019.10:g.44992815C>T	ExAC,TOPMed,gnomAD
rs371810344	p.Pro645Arg	missense variant	-	NC_000019.10:g.44992821C>G	ESP,ExAC,TOPMed,gnomAD
rs1479544347	p.Thr646Ile	missense variant	-	NC_000019.10:g.44992824C>T	gnomAD
rs199856102	p.Gln647Ter	stop gained	-	NC_000019.10:g.44992826C>T	1000Genomes,ExAC,gnomAD
rs775586434	p.Gly648Glu	missense variant	-	NC_000019.10:g.44992830G>A	ExAC,TOPMed,gnomAD
rs775586434	p.Gly648Val	missense variant	-	NC_000019.10:g.44992830G>T	ExAC,TOPMed,gnomAD
rs760671649	p.Ala649Thr	missense variant	-	NC_000019.10:g.44992832G>A	ExAC,gnomAD
rs760671649	p.Ala649Pro	missense variant	-	NC_000019.10:g.44992832G>C	ExAC,gnomAD
rs1425316208	p.Ala652Val	missense variant	-	NC_000019.10:g.44992842C>T	gnomAD
rs766244119	p.Ser653Gly	missense variant	-	NC_000019.10:g.44992844A>G	ExAC,gnomAD
rs138129932	p.Glu654Ter	stop gained	-	NC_000019.10:g.44992847G>T	ESP,ExAC,TOPMed,gnomAD
rs759178546	p.Glu654Asp	missense variant	-	NC_000019.10:g.44992849G>T	ExAC,gnomAD
rs138129932	p.Glu654Lys	missense variant	-	NC_000019.10:g.44992847G>A	ESP,ExAC,TOPMed,gnomAD
rs1221242842	p.Pro655Ser	missense variant	-	NC_000019.10:g.44992850C>T	gnomAD
rs1400793332	p.Pro655Leu	missense variant	-	NC_000019.10:g.44992851C>T	TOPMed
rs1294097116	p.Ala658Val	missense variant	-	NC_000019.10:g.44992860C>T	gnomAD
COSM5906089	p.Pro659Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44992862C>T	NCI-TCGA Cosmic
rs1393589201	p.Pro662Leu	missense variant	-	NC_000019.10:g.44992872C>T	gnomAD
rs752461597	p.Ala663Thr	missense variant	-	NC_000019.10:g.44992874G>A	ExAC,gnomAD
rs569264813	p.Ala663Gly	missense variant	-	NC_000019.10:g.44992875C>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu664Lys	missense variant	-	NC_000019.10:g.44992877G>A	NCI-TCGA
rs757794882	p.Lys667Glu	missense variant	-	NC_000019.10:g.44992886A>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys667Ile	missense variant	-	NC_000019.10:g.44992887A>T	NCI-TCGA
rs1184491825	p.Asp669Asn	missense variant	-	NC_000019.10:g.44992892G>A	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0002395	Alzheimer's Disease	disease	GWASDB
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0025202	melanoma	disease	BEFREE
C0030297	Pancreatic Neoplasm	disease	CTD_human
C0033578	Prostatic Neoplasms	group	LHGDN
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0346647	Malignant neoplasm of pancreas	disease	CTD_human
C0684249	Carcinoma of lung	disease	BEFREE
C0810364	Cleft Lip with or without Cleft Palate	disease	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE

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:0007275	multicellular organism development	IEA
GO:0030154	cell differentiation	IEA
GO:0033081	regulation of T cell differentiation in thymus	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005887	integral component of plasma membrane	TAS
GO:0009897	external side of plasma membrane	ISS
GO:0016020	membrane	HDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C495626	14-deoxy-11,12-didehydroandrographolide	14-deoxy-11,12-didehydroandrographolide results in decreased expression of CLPTM1 mRNA	22101062
C063002	2,3-dimethoxy-1,4-naphthoquinone	2,3-dimethoxy-1,4-naphthoquinone results in decreased expression of CLPTM1 mRNA	17547211
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of CLPTM1 mRNA	21346803
D000082	Acetaminophen	Acetaminophen results in increased expression of CLPTM1 mRNA	22230336
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of CLPTM1 gene	27153756
C029753	aflatoxin B2	aflatoxin B2 results in decreased methylation of CLPTM1 intron	30157460
D000965	Antimony	Antimony results in decreased expression of CLPTM1 mRNA	17547211
D000966	Antimony Potassium Tartrate	Antimony Potassium Tartrate results in decreased expression of CLPTM1 mRNA	17547211
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of CLPTM1 intron	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of CLPTM1 mRNA	22228805
C026487	benzo(e)pyrene	benzo(e)pyrene affects the methylation of CLPTM1 intron	30157460
C006780	bisphenol A	bisphenol A affects the expression of CLPTM1 mRNA	21786754
C006780	bisphenol A	bisphenol A results in increased methylation of CLPTM1 intron	30906313
C006780	bisphenol A	bisphenol A results in increased expression of CLPTM1 mRNA	29275510
C006780	bisphenol A	bisphenol A affects the expression of CLPTM1 mRNA	25181051
D000069286	Bortezomib	Bortezomib results in decreased expression of CLPTM1 mRNA	20977926
C584509	C646 compound	C646 compound results in decreased expression of CLPTM1 mRNA	26191083
D002857	Chromium	Chromium results in decreased expression of CLPTM1 mRNA	17547211
D002990	Clobetasol	Clobetasol results in increased expression of CLPTM1 mRNA	27462272
D003907	Dexamethasone	Dexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of CLPTM1 mRNA]	27941970
D004128	Dimethylnitrosamine	Dimethylnitrosamine results in decreased expression of CLPTM1 mRNA	17547211
D004221	Disulfiram	Disulfiram results in decreased expression of CLPTM1 mRNA	20530235
D004317	Doxorubicin	CLPTM1 mRNA affects the susceptibility to Doxorubicin	16243817
D004958	Estradiol	Estradiol results in decreased expression of CLPTM1 mRNA	16705744
D004958	Estradiol	Estradiol results in increased expression of CLPTM1 mRNA	19167446
D000431	Ethanol	Ethanol affects the splicing of CLPTM1 mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of CLPTM1 mRNA	23129252
C069837	fullerene C60	fullerene C60 results in increased expression of CLPTM1 mRNA	19167457
D019833	Genistein	Genistein results in decreased expression of CLPTM1 mRNA	16705744
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of CLPTM1 mRNA	25613284
D000077339	Leflunomide	Leflunomide results in decreased expression of CLPTM1 mRNA	28988120
C482199	lipopolysaccharide, E coli O55-B5	lipopolysaccharide, E coli O55-B5 results in increased expression of CLPTM1 mRNA	24972896
D008628	Mercury	Mercury results in decreased expression of CLPTM1 mRNA	17547211
D008628	Mercury	Mercury results in increased expression of CLPTM1 mRNA	16823088
D008701	Methapyrilene	Methapyrilene affects the methylation of CLPTM1 intron	30157460
D008727	Methotrexate	CLPTM1 protein affects the susceptibility to Methotrexate	16217747
D008727	Methotrexate	Methotrexate results in decreased expression of CLPTM1 mRNA	17400583
C022838	nickel chloride	nickel chloride results in decreased expression of CLPTM1 mRNA	17547211
C028007	nickel monoxide	nickel monoxide results in increased expression of CLPTM1 mRNA	19167457
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of CLPTM1 mRNA	20188158
D010100	Oxygen	[sulforafan affects the susceptibility to Oxygen] which affects the expression of CLPTM1 mRNA	30529165
D010416	Pentachlorophenol	Pentachlorophenol results in decreased expression of CLPTM1 mRNA	24642059
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of CLPTM1 protein	26879310
C014153	pirimiphos methyl	pirimiphos methyl results in decreased expression of CLPTM1 mRNA	27845199
D011192	Potassium Dichromate	Potassium Dichromate results in decreased expression of CLPTM1 mRNA	17547211
D012643	Selenium	Selenium results in increased expression of CLPTM1 mRNA	19244175
C017947	sodium arsenite	sodium arsenite results in increased expression of CLPTM1 mRNA	29361514
D018038	Sodium Selenite	Sodium Selenite results in decreased expression of CLPTM1 mRNA	18175754
C016766	sulforafan	[sulforafan affects the susceptibility to Oxygen] which affects the expression of CLPTM1 mRNA	30529165
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of CLPTM1 mRNA	21570461
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of CLPTM1 mRNA	25613284
D013893	Thiram	Thiram results in decreased expression of CLPTM1 mRNA	20530235
D014520	Urethane	Urethane results in increased expression of CLPTM1 mRNA	28818685
C025643	vinclozolin	vinclozolin results in decreased expression of CLPTM1 mRNA	23034163

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0007	Acetylation
KW-0025	Alternative splicing
KW-0160	Chromosomal rearrangement
KW-0217	Developmental protein
KW-0221	Differentiation
KW-0325	Glycoprotein
KW-0472	Membrane
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR008429	CLPTM1

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF05602	CLPTM1

Gene: CLPTM1

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

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction