CleftGeneDB-Search

Gene: SCLT1

Basic information

Tag	Content
Uniprot ID	Q96NL6; A4QN04; Q0VAH2; Q6P2M4;
Entrez ID	132320
Genbank protein ID	AAH64428.1; EAX05167.1; AAI21058.1; AAI28052.1; BAB70876.1; AAI21059.1;
Genbank nucleotide ID	NM_001300897.1; NM_144643.3; NM_001300898.1;
Ensembl protein ID	ENSP00000281142; ENSP00000420861; ENSP00000395292;
Ensembl nucleotide ID	ENSG00000151466
Gene name	Sodium channel and clathrin linker 1
Gene symbol	SCLT1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Adapter protein that links SCN10A to clathrin. Regulates SCN10A channel activity, possibly by promoting channel internalization (By similarity).
Sequence	MAAEIDFLRE QNRRLNEDFR RYQMESFSKY SSVQKAVCQG EGDDTFENLV FDQSFLAPLV 60 TEYDKHLGEL NGQLKYYQKQ VGEMKLQLEN VIKENERLHS ELKDAVEKKL EAFPLGTEVG 120 TDIYADDETV RNLQEQLQLA NQEKTQAVEL WQTVSQELDR LHKLYQEHMT EAQIHVFESQ 180 KQKDQLFDFQ QLTKQLHVTN ENMEVTNQQF LKTVTEQSVI IEQLRKKLRQ AKLELRVAVA 240 KVEELTNVTE DLQGQMKKKE KDVVSAHGRE EASDRRLQQL QSSIKQLEIR LCVTIQEANQ 300 LRTENTHLEK QTRELQAKCN ELENERYEAI VRARNSMQLL EEANLQKSQA LLEEKQKEED 360 IEKMKETVSR FVQDATIRTK KEVANTKKQC NIQISRLTEE LSALQMECAE KQGQIERVIK 420 EKKAVEEELE KIYREGRGNE SDYRKLEEMH QRFLVSERSK DDLQLRLTRA ENRIKQLETD 480 SSEEISRYQE MIQKLQNVLE SERENCGLVS EQRLKLQQEN KQLRKETESL RKIALEAQKK 540 AKVKISTMEH EFSIKERGFE VQLREMEDSN RNSIVELRHL LATQQKAANR WKEETKKLTE 600 SAEIRINNLK SELSRQKLHT QELLSQLEMA NEKVAENEKL ILEHQEKANR LQRRLSQAEE 660 RAASASQQLS VITVQRRKAA SLMNLENI 688

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	SCLT1		A0A452G9W1		Capra hircus	Prediction	More>>
1:1 ortholog	SCLT1	100071834	F6X4D8		Equus caballus	Prediction	More>>
1:1 ortholog	SCLT1	132320	Q96NL6		Homo sapiens	Prediction	More>>
1:1 ortholog	Sclt1	67161	G5E861	CPO	Mus musculus	Publication	More>>
1:1 ortholog	SCLT1	461486	H2QQ60		Pan troglodytes	Prediction	More>>
1:1 ortholog			A0A4X1VFW7		Sus scrofa	Prediction	More>>
1:1 ortholog	Sclt1	266809	Q8CJ99		Rattus norvegicus	Prediction	More>>
1:1 ortholog	sclt1	561057	E7EZ46		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1293990602	p.Ala2Val	missense variant	-	NC_000004.12:g.129093099G>A	gnomAD
rs1294881791	p.Ala3Val	missense variant	-	NC_000004.12:g.129093096G>A	gnomAD
rs1324626785	p.Ala3Thr	missense variant	-	NC_000004.12:g.129093097C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ile5Met	missense variant	-	NC_000004.12:g.129093089G>C	NCI-TCGA
rs748671223	p.Leu8Met	missense variant	-	NC_000004.12:g.129093082G>T	ExAC,TOPMed,gnomAD
rs748671223	p.Leu8Val	missense variant	-	NC_000004.12:g.129093082G>C	ExAC,TOPMed,gnomAD
rs1403847529	p.Arg9Thr	missense variant	-	NC_000004.12:g.129093078C>G	gnomAD
rs1298297561	p.Arg9Ter	stop gained	-	NC_000004.12:g.129093079T>A	gnomAD
rs781691952	p.Glu10Lys	missense variant	-	NC_000004.12:g.129093076C>T	ExAC,gnomAD
rs1294991891	p.Gln11Glu	missense variant	-	NC_000004.12:g.129093073G>C	TOPMed,gnomAD
COSM1051203	p.Asn12His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.129093070T>G	NCI-TCGA Cosmic
rs201848700	p.Arg13Ter	stop gained	-	NC_000004.12:g.129082371G>A	ExAC,TOPMed,gnomAD
rs375916585	p.Arg13Gln	missense variant	-	NC_000004.12:g.129082370C>T	ESP,ExAC,TOPMed,gnomAD
rs201848700	p.Arg13Gly	missense variant	-	NC_000004.12:g.129082371G>C	ExAC,TOPMed,gnomAD
rs144317377	p.Arg14Lys	missense variant	-	NC_000004.12:g.129082367C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1180862857	p.Asn16Asp	missense variant	-	NC_000004.12:g.129082362T>C	gnomAD
rs757220816	p.Asn16Ser	missense variant	-	NC_000004.12:g.129082361T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu17Ala	missense variant	-	NC_000004.12:g.129082358T>G	NCI-TCGA
rs946175004	p.Arg20Thr	missense variant	-	NC_000004.12:g.129082349C>G	gnomAD
rs536017829	p.Arg21Trp	missense variant	-	NC_000004.12:g.129082347G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs574668445	p.Arg21Gln	missense variant	-	NC_000004.12:g.129082346C>T	1000Genomes,ExAC,gnomAD
rs149592900	p.Gln23His	missense variant	-	NC_000004.12:g.129082339T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1233402899	p.Gln23Glu	missense variant	-	NC_000004.12:g.129082341G>C	gnomAD
rs767140889	p.Phe27Ser	missense variant	-	NC_000004.12:g.129082328A>G	ExAC,gnomAD
rs759232942	p.Ser28Pro	missense variant	-	NC_000004.12:g.129082326A>G	ExAC,gnomAD
rs1335930756	p.Lys29Glu	missense variant	-	NC_000004.12:g.129082323T>C	gnomAD
rs1394622577	p.Tyr30Asn	missense variant	-	NC_000004.12:g.129082320A>T	TOPMed
rs777202527	p.Ser32Phe	missense variant	-	NC_000004.12:g.129082313G>A	ExAC,gnomAD
rs777202527	p.Ser32Phe	missense variant	-	NC_000004.12:g.129082313G>A	NCI-TCGA
rs769113147	p.Gln34Ter	stop gained	-	NC_000004.12:g.129082308G>A	ExAC,TOPMed,gnomAD
rs747101295	p.Gln34Leu	missense variant	-	NC_000004.12:g.129082307T>A	ExAC,gnomAD
rs1488402506	p.Ala36Thr	missense variant	-	NC_000004.12:g.129044048C>T	gnomAD
rs1226391945	p.Val37Ile	missense variant	-	NC_000004.12:g.129044045C>T	gnomAD
rs779281649	p.Cys38Phe	missense variant	-	NC_000004.12:g.129044041C>A	ExAC,TOPMed,gnomAD
rs1284648341	p.Gly40Arg	missense variant	-	NC_000004.12:g.129044036C>T	gnomAD
rs1259608509	p.Gly40Ala	missense variant	-	NC_000004.12:g.129044035C>G	TOPMed
rs771124477	p.Glu41Asp	missense variant	-	NC_000004.12:g.129044031T>A	ExAC,gnomAD
rs749094740	p.Gly42Arg	missense variant	-	NC_000004.12:g.129044030C>G	ExAC,gnomAD
rs749094740	p.Gly42Arg	missense variant	-	NC_000004.12:g.129044030C>T	ExAC,gnomAD
rs1300140514	p.Gly42Val	missense variant	-	NC_000004.12:g.129044029C>A	gnomAD
NCI-TCGA novel	p.Gly42Glu	missense variant	-	NC_000004.12:g.129044029C>T	NCI-TCGA
rs149071636	p.Asp44Asn	missense variant	-	NC_000004.12:g.129044024C>T	ESP,ExAC,TOPMed,gnomAD
rs752603981	p.Asp44Gly	missense variant	-	NC_000004.12:g.129044023T>C	ExAC,gnomAD
rs780628070	p.Leu49Arg	missense variant	-	NC_000004.12:g.129044008A>C	ExAC,gnomAD
rs377339822	p.Ser54Arg	missense variant	-	NC_000004.12:g.129043467G>C	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Leu56Ter	frameshift	-	NC_000004.12:g.129043462A>-	NCI-TCGA
rs773016386	p.Leu59Val	missense variant	-	NC_000004.12:g.129043454G>C	ExAC,TOPMed,gnomAD
rs1189057720	p.Val60Ile	missense variant	-	NC_000004.12:g.129043451C>T	gnomAD
rs769495312	p.Tyr63Cys	missense variant	-	NC_000004.12:g.129043441T>C	ExAC,gnomAD
rs936727509	p.His66Gln	missense variant	-	NC_000004.12:g.129043431G>C	TOPMed
rs1246974579	p.His66Pro	missense variant	-	NC_000004.12:g.129043432T>G	gnomAD
rs1259848461	p.Glu69Lys	missense variant	-	NC_000004.12:g.129043424C>T	TOPMed,gnomAD
rs1259848461	p.Glu69Gln	missense variant	-	NC_000004.12:g.129043424C>G	TOPMed,gnomAD
rs199568333	p.Asn71Thr	missense variant	-	NC_000004.12:g.129043417T>G	1000Genomes,ExAC,gnomAD
rs199568333	p.Asn71Ser	missense variant	-	NC_000004.12:g.129043417T>C	1000Genomes,ExAC,gnomAD
rs531089098	p.Gln73Arg	missense variant	-	NC_000004.12:g.129043411T>C	1000Genomes,ExAC,gnomAD
rs531089098	p.Gln73Pro	missense variant	-	NC_000004.12:g.129043411T>G	1000Genomes,ExAC,gnomAD
rs768552071	p.Val81Leu	missense variant	-	NC_000004.12:g.129039090C>A	ExAC,gnomAD
rs1262603971	p.Val81Ala	missense variant	-	NC_000004.12:g.129039089A>G	gnomAD
rs1214660773	p.Gly82Val	missense variant	-	NC_000004.12:g.129039086C>A	gnomAD
NCI-TCGA novel	p.Gly82Ala	missense variant	-	NC_000004.12:g.129039086C>G	NCI-TCGA
rs1489379908	p.Glu83Gly	missense variant	-	NC_000004.12:g.129039083T>C	TOPMed,gnomAD
rs936400966	p.Met84Ile	missense variant	-	NC_000004.12:g.129039079C>A	gnomAD
rs1462401617	p.Met84Val	missense variant	-	NC_000004.12:g.129039081T>C	TOPMed
rs370155503	p.Val91Ile	missense variant	-	NC_000004.12:g.129039060C>T	ESP,ExAC,gnomAD
rs757861062	p.Ile92Val	missense variant	-	NC_000004.12:g.129039057T>C	ExAC,gnomAD
rs1276998431	p.Lys93Asn	missense variant	-	NC_000004.12:g.129039052C>G	gnomAD
rs745457179	p.Glu96Gln	missense variant	-	NC_000004.12:g.129039045C>G	ExAC,TOPMed,gnomAD
rs745457179	p.Glu96Lys	missense variant	-	NC_000004.12:g.129039045C>T	ExAC,TOPMed,gnomAD
rs1329173593	p.His99Pro	missense variant	-	NC_000004.12:g.129003871T>G	gnomAD
NCI-TCGA novel	p.His99Arg	missense variant	-	NC_000004.12:g.129003871T>C	NCI-TCGA
rs1448932066	p.Ser100Cys	missense variant	-	NC_000004.12:g.129003869T>A	gnomAD
rs201035426	p.Ser100Asn	missense variant	-	NC_000004.12:g.129003868C>T	1000Genomes,gnomAD
rs1448932066	p.Ser100Gly	missense variant	-	NC_000004.12:g.129003869T>C	gnomAD
COSM1427038	p.Leu102Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.129003862A>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys103Arg	missense variant	-	NC_000004.12:g.129003859T>C	NCI-TCGA
rs115856712	p.Asp104Glu	missense variant	-	NC_000004.12:g.129003855A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1268591658	p.Val106Phe	missense variant	-	NC_000004.12:g.129003851C>A	TOPMed
rs758996684	p.Val106Ala	missense variant	-	NC_000004.12:g.129003850A>G	ExAC,gnomAD
rs765333832	p.Glu107Gly	missense variant	-	NC_000004.12:g.129003847T>C	ExAC
rs754073526	p.Lys109Arg	missense variant	-	NC_000004.12:g.129003841T>C	ExAC,gnomAD
rs376838042	p.Lys109Gln	missense variant	-	NC_000004.12:g.129003842T>G	ESP,ExAC,TOPMed,gnomAD
COSM4747873	p.Lys109AsnPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.129003840T>-	NCI-TCGA Cosmic
rs754073526	p.Lys109Ile	missense variant	-	NC_000004.12:g.129003841T>A	ExAC,gnomAD
rs1181001337	p.Leu110Phe	missense variant	-	NC_000004.12:g.129003837C>G	TOPMed,gnomAD
rs372125375	p.Phe113Ile	missense variant	-	NC_000004.12:g.129003830A>T	ESP,TOPMed,gnomAD
COSM3600261	p.Pro114Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.129003827G>A	NCI-TCGA Cosmic
rs775412992	p.Gly116Ser	missense variant	-	NC_000004.12:g.129003821C>T	ExAC,gnomAD
rs368566116	p.Gly116Val	missense variant	-	NC_000004.12:g.129003820C>A	ESP,ExAC,gnomAD
COSM1051195	p.Gly116AlaPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.129003820C>-	NCI-TCGA Cosmic
rs368566116	p.Gly116Asp	missense variant	-	NC_000004.12:g.129003820C>T	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Glu118Gln	missense variant	-	NC_000004.12:g.129003815C>G	NCI-TCGA
rs374599412	p.Thr121Ser	missense variant	-	NC_000004.12:g.129003805G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr121Ser	missense variant	-	NC_000004.12:g.129003806T>A	NCI-TCGA
rs374599412	p.Thr121Ile	missense variant	-	NC_000004.12:g.129003805G>A	ESP,ExAC,TOPMed,gnomAD
rs777569625	p.Ile123Met	missense variant	-	NC_000004.12:g.129003798T>C	ExAC,gnomAD
rs147766080	p.Ile123Val	missense variant	-	NC_000004.12:g.129003800T>C	ESP,ExAC,gnomAD
rs769631634	p.Ala125Val	missense variant	-	NC_000004.12:g.129003793G>A	ExAC,gnomAD
rs1024251445	p.Asp126Tyr	missense variant	-	NC_000004.12:g.129003791C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Asp126Asn	missense variant	-	NC_000004.12:g.129003791C>T	NCI-TCGA
rs145700085	p.Asp127Gly	missense variant	-	NC_000004.12:g.129003787T>C	ESP,ExAC,gnomAD
rs758794944	p.Thr129Ile	missense variant	-	NC_000004.12:g.129003781G>A	ExAC,gnomAD
rs1378756740	p.Val130Phe	missense variant	-	NC_000004.12:g.129003779C>A	gnomAD
rs1326799160	p.Val130Gly	missense variant	-	NC_000004.12:g.129003778A>C	TOPMed
rs553825676	p.Arg131Lys	missense variant	-	NC_000004.12:g.129003775C>T	1000Genomes,ExAC,gnomAD
rs1368388062	p.Asn132Lys	missense variant	-	NC_000004.12:g.129003771G>T	gnomAD
COSM1427036	p.Gln134Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.129003766T>C	NCI-TCGA Cosmic
rs200203353	p.Glu135Gly	missense variant	-	NC_000004.12:g.129003763T>C	1000Genomes,ExAC,gnomAD
rs757334247	p.Gln138Lys	missense variant	-	NC_000004.12:g.129003755G>T	ExAC,TOPMed,gnomAD
rs757334247	p.Gln138Ter	stop gained	-	NC_000004.12:g.129003755G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu139Pro	missense variant	-	NC_000004.12:g.129003751A>G	NCI-TCGA
rs373839589	p.Ala140Thr	missense variant	-	NC_000004.12:g.129003749C>T	ESP,ExAC,TOPMed,gnomAD
rs1218078886	p.Glu143Ter	stop gained	-	NC_000004.12:g.128999794C>A	gnomAD
rs1338538846	p.Glu143Val	missense variant	-	NC_000004.12:g.128999793T>A	gnomAD
rs1280264324	p.Lys144Asn	missense variant	-	NC_000004.12:g.128999789T>A	TOPMed,gnomAD
rs375430672	p.Thr145Ala	missense variant	-	NC_000004.12:g.128999788T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr145LeuPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.128999788T>-	NCI-TCGA
rs1242854875	p.Thr145Ile	missense variant	-	NC_000004.12:g.128999787G>A	gnomAD
rs375430672	p.Thr145Ser	missense variant	-	NC_000004.12:g.128999788T>A	ESP,ExAC,TOPMed,gnomAD
rs752982665	p.Gln146Pro	missense variant	-	NC_000004.12:g.128999784T>G	ExAC,gnomAD
rs1395837611	p.Ala147Gly	missense variant	-	NC_000004.12:g.128999781G>C	gnomAD
rs754803117	p.Ala147Ser	missense variant	-	NC_000004.12:g.128999782C>A	ExAC,TOPMed,gnomAD
rs766401248	p.Val148Met	missense variant	-	NC_000004.12:g.128999779C>T	ExAC,gnomAD
rs766401248	p.Val148Leu	missense variant	-	NC_000004.12:g.128999779C>A	ExAC,gnomAD
rs763028027	p.Glu149Gly	missense variant	-	NC_000004.12:g.128999775T>C	ExAC,gnomAD
rs140181990	p.Glu149Asp	missense variant	-	NC_000004.12:g.128999774T>A	ESP,ExAC,TOPMed,gnomAD
rs764827774	p.Leu150Phe	missense variant	-	NC_000004.12:g.128999773G>A	ExAC,gnomAD
rs764827774	p.Leu150Val	missense variant	-	NC_000004.12:g.128999773G>C	ExAC,gnomAD
rs761315097	p.Thr153Ala	missense variant	-	NC_000004.12:g.128999764T>C	ExAC,gnomAD
rs1253487887	p.Val154Ile	missense variant	-	NC_000004.12:g.128999761C>T	gnomAD
rs1197942378	p.Gln156Arg	missense variant	-	NC_000004.12:g.128999754T>C	gnomAD
rs768260860	p.Glu157Ter	stop gained	-	NC_000004.12:g.128999752C>A	ExAC,gnomAD
rs574119600	p.Leu161Val	missense variant	-	NC_000004.12:g.128999740G>C	1000Genomes,ExAC,gnomAD
rs1344572800	p.His162Pro	missense variant	-	NC_000004.12:g.128999736T>G	gnomAD
rs374660146	p.Lys163Arg	missense variant	-	NC_000004.12:g.128999733T>C	ESP,ExAC
rs777780729	p.Leu164Phe	missense variant	-	NC_000004.12:g.128999731G>A	ExAC,gnomAD
rs748250486	p.Tyr165Cys	missense variant	-	NC_000004.12:g.128999727T>C	ExAC,gnomAD
rs755209938	p.Gln166Ter	stop gained	-	NC_000004.12:g.128999725G>A	ExAC
rs751372820	p.Glu167Lys	missense variant	-	NC_000004.12:g.128999722C>T	ExAC,TOPMed,gnomAD
rs1369287989	p.His168Arg	missense variant	-	NC_000004.12:g.128999718T>C	TOPMed
COSM4122245	p.Gln173Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.128999704G>A	NCI-TCGA Cosmic
rs1171871118	p.Gln173His	missense variant	-	NC_000004.12:g.128999702C>A	gnomAD
rs780031158	p.His175Arg	missense variant	-	NC_000004.12:g.128999697T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His175Tyr	missense variant	-	NC_000004.12:g.128999698G>A	NCI-TCGA
rs200312901	p.Phe177Leu	missense variant	-	NC_000004.12:g.128999690A>T	ExAC,TOPMed,gnomAD
rs1424018392	p.Phe177Leu	missense variant	-	NC_000004.12:g.128999692A>G	gnomAD
rs750403375	p.Glu178Asp	missense variant	-	NC_000004.12:g.128999687T>G	ExAC,gnomAD
rs1395493008	p.Glu178Gly	missense variant	-	NC_000004.12:g.128999688T>C	gnomAD
rs142407438	p.Gln180Arg	missense variant	-	NC_000004.12:g.128999682T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM72552	p.Gln182Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128999677G>C	NCI-TCGA Cosmic
rs1234597231	p.Lys183Met	missense variant	-	NC_000004.12:g.128999673T>A	gnomAD
rs770309572	p.Phe187Ser	missense variant	-	NC_000004.12:g.128997929A>G	ExAC,TOPMed,gnomAD
rs770309572	p.Phe187Cys	missense variant	-	NC_000004.12:g.128997929A>C	ExAC,TOPMed,gnomAD
rs369526908	p.Phe189Ile	missense variant	-	NC_000004.12:g.128997924A>T	ESP,ExAC,TOPMed,gnomAD
rs369526908	p.Phe189Leu	missense variant	-	NC_000004.12:g.128997924A>G	ESP,ExAC,TOPMed,gnomAD
rs768874682	p.Gln191Leu	missense variant	-	NC_000004.12:g.128997917T>A	ExAC,TOPMed,gnomAD
rs768874682	p.Gln191Arg	missense variant	-	NC_000004.12:g.128997917T>C	ExAC,TOPMed,gnomAD
rs780420215	p.Thr193Ala	missense variant	-	NC_000004.12:g.128997912T>C	ExAC,gnomAD
rs1430192403	p.Leu196Ile	missense variant	-	NC_000004.12:g.128997903G>T	TOPMed
rs1221358723	p.His197Gln	missense variant	-	NC_000004.12:g.128997898A>T	gnomAD
NCI-TCGA novel	p.Glu201Asp	missense variant	-	NC_000004.12:g.128997886C>G	NCI-TCGA
rs757176446	p.Met203Thr	missense variant	-	NC_000004.12:g.128997881A>G	ExAC,gnomAD
rs778612185	p.Met203Leu	missense variant	-	NC_000004.12:g.128997882T>G	ExAC,gnomAD
rs778612185	p.Met203Val	missense variant	-	NC_000004.12:g.128997882T>C	ExAC,gnomAD
rs1234526423	p.Glu204Lys	missense variant	-	NC_000004.12:g.128997879C>T	TOPMed,gnomAD
rs749205253	p.Glu204Gly	missense variant	-	NC_000004.12:g.128997878T>C	ExAC,gnomAD
rs1169760672	p.Thr206Ile	missense variant	-	NC_000004.12:g.128992236G>A	TOPMed
rs762327822	p.Gln208Arg	missense variant	-	NC_000004.12:g.128992230T>C	ExAC,gnomAD
rs777011502	p.Gln209Arg	missense variant	-	NC_000004.12:g.128992227T>C	ExAC,TOPMed,gnomAD
rs1463113313	p.Leu211Pro	missense variant	-	NC_000004.12:g.128992221A>G	TOPMed
rs764765177	p.Lys212Arg	missense variant	-	NC_000004.12:g.128992218T>C	ExAC,gnomAD
rs760824351	p.Thr213Ile	missense variant	-	NC_000004.12:g.128992215G>A	ExAC,TOPMed,gnomAD
rs1394469282	p.Thr215Ala	missense variant	-	NC_000004.12:g.128992210T>C	TOPMed
rs772393955	p.Gln217Lys	missense variant	-	NC_000004.12:g.128992204G>T	ExAC,TOPMed,gnomAD
COSM4122243	p.Ser218Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128992200C>G	NCI-TCGA Cosmic
rs199943075	p.Val219Ala	missense variant	-	NC_000004.12:g.128992197A>G	ESP,ExAC,TOPMed,gnomAD
rs774145943	p.Ile221Ser	missense variant	-	NC_000004.12:g.128992191A>C	ExAC
rs13151322	p.Ile221Met	missense variant	-	NC_000004.12:g.128992190G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777678930	p.Glu222Lys	missense variant	-	NC_000004.12:g.128992189C>T	ExAC,TOPMed,gnomAD
rs202057318	p.Arg225Ter	stop gained	-	NC_000004.12:g.128992180G>A	ESP,ExAC,TOPMed,gnomAD
rs747632827	p.Arg225Gln	missense variant	-	NC_000004.12:g.128992179C>T	ExAC,gnomAD
COSM1618375	p.Lys227AsnPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.128992172T>-	NCI-TCGA Cosmic
COSM257956	p.Leu228Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128992170A>C	NCI-TCGA Cosmic
rs1481337872	p.Arg229Met	missense variant	-	NC_000004.12:g.128992167C>A	gnomAD
rs1481337872	p.Arg229Lys	missense variant	-	NC_000004.12:g.128992167C>T	gnomAD
rs1211317269	p.Gln230Glu	missense variant	-	NC_000004.12:g.128970467G>C	gnomAD
rs932573755	p.Ala231Asp	missense variant	-	NC_000004.12:g.128970463G>T	gnomAD
rs1470771874	p.Ala231Thr	missense variant	-	NC_000004.12:g.128970464C>T	gnomAD
rs771247745	p.Glu234Asp	missense variant	-	NC_000004.12:g.128970453C>A	ExAC,gnomAD
rs1277657521	p.Glu234Ter	stop gained	-	NC_000004.12:g.128970455C>A	gnomAD
COSM3825189	p.Glu234Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128970455C>G	NCI-TCGA Cosmic
rs112139528	p.Val237Ala	missense variant	-	NC_000004.12:g.128970445A>G	TOPMed
rs921156011	p.Val239Ile	missense variant	-	NC_000004.12:g.128970440C>T	TOPMed
rs749019155	p.Ala240Thr	missense variant	-	NC_000004.12:g.128970437C>T	ExAC,gnomAD
rs115924008	p.Glu243Lys	missense variant	-	NC_000004.12:g.128970428C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1243144422	p.Glu244Asp	missense variant	-	NC_000004.12:g.128970423C>G	TOPMed
rs367568359	p.Thr249Asn	missense variant	-	NC_000004.12:g.128970409G>T	ESP,TOPMed,gnomAD
rs142830954	p.Glu250Lys	missense variant	-	NC_000004.12:g.128970407C>T	ESP,ExAC,TOPMed,gnomAD
rs748109220	p.Glu250Asp	missense variant	-	NC_000004.12:g.128970405T>G	ExAC,TOPMed,gnomAD
rs780625958	p.Asp251Gly	missense variant	-	NC_000004.12:g.128970403T>C	ExAC,TOPMed,gnomAD
rs780625958	p.Asp251Val	missense variant	-	NC_000004.12:g.128970403T>A	ExAC,TOPMed,gnomAD
rs371493509	p.Asp251His	missense variant	-	NC_000004.12:g.128970404C>G	ESP,TOPMed,gnomAD
rs1454743715	p.Gly254Glu	missense variant	-	NC_000004.12:g.128970394C>T	gnomAD
rs200804651	p.Gln255Pro	missense variant	-	NC_000004.12:g.128970391T>G	1000Genomes,gnomAD
rs200804651	p.Gln255Arg	missense variant	-	NC_000004.12:g.128970391T>C	1000Genomes,gnomAD
rs141863899	p.Met256Ile	missense variant	-	NC_000004.12:g.128970387C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Met256Lys	missense variant	-	NC_000004.12:g.128970388A>T	NCI-TCGA
rs1259096285	p.Lys257Glu	missense variant	-	NC_000004.12:g.128970386T>C	TOPMed,gnomAD
COSM203867	p.Lys259Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128970378C>A	NCI-TCGA Cosmic
rs778224846	p.Asp262Asn	missense variant	-	NC_000004.12:g.128965312C>T	ExAC,TOPMed,gnomAD
rs756551030	p.Asp262Gly	missense variant	-	NC_000004.12:g.128965311T>C	ExAC,gnomAD
rs1011825786	p.Asp262Glu	missense variant	-	NC_000004.12:g.128965310A>C	TOPMed
rs141936180	p.Val263Met	missense variant	-	NC_000004.12:g.128965309C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs781533613	p.Ser265Pro	missense variant	-	NC_000004.12:g.128965303A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala266Ser	missense variant	-	NC_000004.12:g.128965300C>A	NCI-TCGA
rs371314339	p.His267Arg	missense variant	-	NC_000004.12:g.128965296T>C	ESP,ExAC,TOPMed,gnomAD
rs371314339	p.His267Pro	missense variant	-	NC_000004.12:g.128965296T>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His267Gln	missense variant	-	NC_000004.12:g.128965295A>T	NCI-TCGA
rs369084418	p.Glu270Gln	missense variant	-	NC_000004.12:g.128965288C>G	ESP,ExAC,TOPMed,gnomAD
COSM4122239	p.Glu271Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128965283T>G	NCI-TCGA Cosmic
rs766510060	p.Ala272Thr	missense variant	-	NC_000004.12:g.128965282C>T	ExAC,gnomAD
rs1267479413	p.Ser273Leu	missense variant	-	NC_000004.12:g.128965278G>A	TOPMed,gnomAD
rs1394278308	p.Ser273Thr	missense variant	-	NC_000004.12:g.128965279A>T	gnomAD
rs1191573115	p.Arg275Lys	missense variant	-	NC_000004.12:g.128965272C>T	gnomAD
rs750651412	p.Arg276Cys	missense variant	-	NC_000004.12:g.128965270G>A	ExAC,gnomAD
rs765514231	p.Arg276His	missense variant	-	NC_000004.12:g.128965269C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu277Ter	stop gained	-	NC_000004.12:g.128965266A>C	NCI-TCGA
rs1489233103	p.Leu277Val	missense variant	-	NC_000004.12:g.128965267A>C	TOPMed,gnomAD
rs944136806	p.Gln279His	missense variant	-	NC_000004.12:g.128965259C>A	TOPMed
NCI-TCGA novel	p.Gln279Ter	stop gained	-	NC_000004.12:g.128965261G>A	NCI-TCGA
NCI-TCGA novel	p.Gln279Arg	missense variant	-	NC_000004.12:g.128965260T>C	NCI-TCGA
rs761587647	p.Gln279Lys	missense variant	-	NC_000004.12:g.128965261G>T	ExAC,gnomAD
NCI-TCGA novel	p.Gln281Pro	missense variant	-	NC_000004.12:g.128965254T>G	NCI-TCGA
rs768447210	p.Ser282Pro	missense variant	-	NC_000004.12:g.128965252A>G	ExAC,TOPMed,gnomAD
rs768447210	p.Ser282Ala	missense variant	-	NC_000004.12:g.128965252A>C	ExAC,TOPMed,gnomAD
rs1196623118	p.Ser283Arg	missense variant	-	NC_000004.12:g.128965247A>C	gnomAD
rs1275301250	p.Ser283Thr	missense variant	-	NC_000004.12:g.128965248C>G	TOPMed,gnomAD
rs1275301250	p.Ser283Asn	missense variant	-	NC_000004.12:g.128965248C>T	TOPMed,gnomAD
rs1221183995	p.Lys285Thr	missense variant	-	NC_000004.12:g.128965242T>G	TOPMed
rs1245213584	p.Gln286Arg	missense variant	-	NC_000004.12:g.128965239T>C	TOPMed
COSM447368	p.Ile289Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128965231T>A	NCI-TCGA Cosmic
rs1478806342	p.Arg290Lys	missense variant	-	NC_000004.12:g.128965227C>T	TOPMed
rs1009259114	p.Cys292Tyr	missense variant	-	NC_000004.12:g.128959772C>T	TOPMed,gnomAD
COSM3600255	p.Val293Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128959770C>A	NCI-TCGA Cosmic
rs1429180929	p.Thr294Ala	missense variant	-	NC_000004.12:g.128959767T>C	TOPMed
rs1205358356	p.Ile295Met	missense variant	-	NC_000004.12:g.128959762G>C	gnomAD
rs141894698	p.Gln296Leu	missense variant	-	NC_000004.12:g.128959760T>A	ESP,TOPMed
rs1031527970	p.Arg302Ile	missense variant	-	NC_000004.12:g.128959742C>A	TOPMed
rs779934171	p.Thr303Ile	missense variant	-	NC_000004.12:g.128959739G>A	ExAC,TOPMed,gnomAD
rs779934171	p.Thr303Ser	missense variant	-	NC_000004.12:g.128959739G>C	ExAC,TOPMed,gnomAD
rs758471749	p.Glu304Lys	missense variant	-	NC_000004.12:g.128959737C>T	ExAC,gnomAD
rs750563851	p.Thr306Ser	missense variant	-	NC_000004.12:g.128959731T>A	ExAC,gnomAD
COSM1427032	p.Thr306Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128959730G>A	NCI-TCGA Cosmic
rs1000000480	p.His307Tyr	missense variant	-	NC_000004.12:g.128959728G>A	TOPMed
rs765427849	p.Glu309Ala	missense variant	-	NC_000004.12:g.128959721T>G	ExAC,TOPMed,gnomAD
rs765427849	p.Glu309Gly	missense variant	-	NC_000004.12:g.128959721T>C	ExAC,TOPMed,gnomAD
rs1212097525	p.Gln311His	missense variant	-	NC_000004.12:g.128959714C>G	TOPMed
rs1258181834	p.Thr312Asn	missense variant	-	NC_000004.12:g.128959712G>T	TOPMed
rs576491536	p.Glu314Lys	missense variant	-	NC_000004.12:g.128959707C>T	1000Genomes
rs753537900	p.Gln316Ter	stop gained	-	NC_000004.12:g.128959701G>A	ExAC,gnomAD
rs369384123	p.Ala317Thr	missense variant	-	NC_000004.12:g.128959698C>T	ESP,ExAC,gnomAD
rs760473402	p.Cys319Ter	stop gained	-	NC_000004.12:g.128959690G>T	ExAC,gnomAD
rs1049473541	p.Cys319Gly	missense variant	-	NC_000004.12:g.128959692A>C	TOPMed
NCI-TCGA novel	p.Cys319Phe	missense variant	-	NC_000004.12:g.128959691C>A	NCI-TCGA
COSM447366	p.Glu321Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128959685T>A	NCI-TCGA Cosmic
rs201820893	p.Leu322Ser	missense variant	-	NC_000004.12:g.128959682A>G	ExAC,gnomAD
rs1473662359	p.Arg326Lys	missense variant	-	NC_000004.12:g.128959670C>T	TOPMed
COSM4122237	p.Tyr327Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128959667T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ile330Met	missense variant	-	NC_000004.12:g.128959657A>C	NCI-TCGA
rs767420380	p.Ile330Phe	missense variant	-	NC_000004.12:g.128959659T>A	ExAC,gnomAD
rs767420380	p.Ile330Val	missense variant	-	NC_000004.12:g.128959659T>C	ExAC,gnomAD
rs1398846272	p.Arg332Lys	missense variant	-	NC_000004.12:g.128959652C>T	TOPMed,gnomAD
rs774049589	p.Ala333Asp	missense variant	-	NC_000004.12:g.128959649G>T	ExAC,TOPMed,gnomAD
rs770672087	p.Ser336Asn	missense variant	-	NC_000004.12:g.128959640C>T	ExAC,TOPMed,gnomAD
rs922897456	p.Glu341Lys	missense variant	-	NC_000004.12:g.128959626C>T	gnomAD
rs868690937	p.Ala343Ser	missense variant	-	NC_000004.12:g.128959620C>A	gnomAD
rs868690937	p.Ala343Thr	missense variant	-	NC_000004.12:g.128959620C>T	gnomAD
COSM5166146	p.Ser348ValPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.128959605T>-	NCI-TCGA Cosmic
rs747402480	p.Gln349Arg	missense variant	-	NC_000004.12:g.128959601T>C	ExAC,gnomAD
rs1319252239	p.Gln349His	missense variant	-	NC_000004.12:g.128959600C>G	gnomAD
COSM732607	p.Gln349Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128959601T>A	NCI-TCGA Cosmic
rs1213655195	p.Ala350Val	missense variant	-	NC_000004.12:g.128957123G>A	gnomAD
rs1247622732	p.Leu352Phe	missense variant	-	NC_000004.12:g.128957118G>A	TOPMed
rs1052849966	p.Glu353Asp	missense variant	-	NC_000004.12:g.128957113C>G	gnomAD
NCI-TCGA novel	p.Glu353Ala	missense variant	-	NC_000004.12:g.128957114T>G	NCI-TCGA
COSM4834819	p.Glu353Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128957115C>G	NCI-TCGA Cosmic
rs766007005	p.Glu353Lys	missense variant	-	NC_000004.12:g.128957115C>T	ExAC,gnomAD
rs762633562	p.Glu354Lys	missense variant	-	NC_000004.12:g.128957112C>T	ExAC,gnomAD
rs35732875	p.Glu354Asp	missense variant	-	NC_000004.12:g.128957110C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1294424452	p.Lys355Gln	missense variant	-	NC_000004.12:g.128957109T>G	gnomAD
rs751350400	p.Lys355Arg	missense variant	-	NC_000004.12:g.128957108T>C	TOPMed,gnomAD
rs769393409	p.Lys357Glu	missense variant	-	NC_000004.12:g.128957103T>C	ExAC,gnomAD
rs1421296093	p.Asp360His	missense variant	-	NC_000004.12:g.128957094C>G	TOPMed
rs772529142	p.Ile361Arg	missense variant	-	NC_000004.12:g.128957090A>C	ExAC,TOPMed,gnomAD
rs775762765	p.Ile361Leu	missense variant	-	NC_000004.12:g.128957091T>G	ExAC,gnomAD
rs775762765	p.Ile361Val	missense variant	-	NC_000004.12:g.128957091T>C	ExAC,gnomAD
rs143513157	p.Glu362Gly	missense variant	-	NC_000004.12:g.128957087T>C	ESP,TOPMed,gnomAD
rs746398116	p.Met364Arg	missense variant	-	NC_000004.12:g.128957081A>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys365Glu	missense variant	-	NC_000004.12:g.128957079T>C	NCI-TCGA
rs778908118	p.Glu366Lys	missense variant	-	NC_000004.12:g.128957076C>T	ExAC,TOPMed,gnomAD
rs1330285293	p.Glu366Asp	missense variant	-	NC_000004.12:g.128957074C>G	TOPMed
rs1168607836	p.Thr367Arg	missense variant	-	NC_000004.12:g.128957072G>C	gnomAD
NCI-TCGA novel	p.Ser369Tyr	missense variant	-	NC_000004.12:g.128957066G>T	NCI-TCGA
rs372095705	p.Arg370Gln	missense variant	-	NC_000004.12:g.128957063C>T	ESP,ExAC,TOPMed,gnomAD
rs771005429	p.Arg370Trp	missense variant	-	NC_000004.12:g.128957064G>A	ExAC,gnomAD
rs771005429	p.Arg370Gly	missense variant	-	NC_000004.12:g.128957064G>C	ExAC,gnomAD
rs972254254	p.Val372Ile	missense variant	-	NC_000004.12:g.128957058C>T	TOPMed
rs972254254	p.Val372Leu	missense variant	-	NC_000004.12:g.128957058C>A	TOPMed
rs1453111025	p.Asp374Gly	missense variant	-	NC_000004.12:g.128957051T>C	gnomAD
rs778042376	p.Ala375Gly	missense variant	-	NC_000004.12:g.128957048G>C	ExAC
rs756339402	p.Ile377Val	missense variant	-	NC_000004.12:g.128957043T>C	ExAC,TOPMed,gnomAD
rs781074061	p.Val383Asp	missense variant	-	NC_000004.12:g.128952839A>T	ExAC,TOPMed,gnomAD
rs781074061	p.Val383Ala	missense variant	-	NC_000004.12:g.128952839A>G	ExAC,TOPMed,gnomAD
rs1335153091	p.Ala384Glu	missense variant	-	NC_000004.12:g.128952836G>T	gnomAD
rs1233912685	p.Ala384Thr	missense variant	-	NC_000004.12:g.128952837C>T	gnomAD
rs754823096	p.Asn385Ser	missense variant	-	NC_000004.12:g.128952833T>C	ExAC,TOPMed
rs1347561143	p.Asn385Asp	missense variant	-	NC_000004.12:g.128952834T>C	TOPMed
rs754823096	p.Asn385Ile	missense variant	-	NC_000004.12:g.128952833T>A	ExAC,TOPMed
rs141213711	p.Thr386Asn	missense variant	-	NC_000004.12:g.128952830G>T	ESP,TOPMed,gnomAD
rs1432703968	p.Lys388Thr	missense variant	-	NC_000004.12:g.128952824T>G	TOPMed
rs748653627	p.Gln389ThrPheSerTerUnk	frameshift	-	NC_000004.12:g.128952822_128952823insT	NCI-TCGA
rs1037414227	p.Ile392Met	missense variant	-	NC_000004.12:g.128952811T>C	TOPMed,gnomAD
rs1312117988	p.Gln393His	missense variant	-	NC_000004.12:g.128952808T>G	TOPMed
rs147782657	p.Ile394Val	missense variant	-	NC_000004.12:g.128952807T>C	ESP,ExAC,TOPMed,gnomAD
COSM284809	p.Ser395Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128952803G>A	NCI-TCGA Cosmic
rs1453633423	p.Ser395Cys	missense variant	-	NC_000004.12:g.128952803G>C	gnomAD
rs904186727	p.Arg396Gln	missense variant	-	NC_000004.12:g.128952800C>T	TOPMed,gnomAD
rs758308700	p.Arg396Ter	stop gained	-	NC_000004.12:g.128952801G>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu400Ter	stop gained	-	NC_000004.12:g.128952789C>A	NCI-TCGA
rs749909368	p.Leu401Pro	missense variant	-	NC_000004.12:g.128952785A>G	ExAC,gnomAD
rs764679883	p.Ser402Leu	missense variant	-	NC_000004.12:g.128952782G>A	ExAC,TOPMed,gnomAD
rs761474010	p.Ala403Val	missense variant	-	NC_000004.12:g.128952779G>A	ExAC,gnomAD
rs1259333602	p.Leu404Phe	missense variant	-	NC_000004.12:g.128952777G>A	gnomAD
rs200227115	p.Glu407Lys	missense variant	-	NC_000004.12:g.128948570C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs773594955	p.Cys408Tyr	missense variant	-	NC_000004.12:g.128948566C>T	ExAC,gnomAD
rs1211837234	p.Cys408Arg	missense variant	-	NC_000004.12:g.128948567A>G	gnomAD
rs765836493	p.Glu410Lys	missense variant	-	NC_000004.12:g.128948561C>T	ExAC,TOPMed,gnomAD
rs761963526	p.Lys411Asn	missense variant	-	NC_000004.12:g.128948556T>G	ExAC,gnomAD
rs144200882	p.Gly413Asp	missense variant	-	NC_000004.12:g.128948551C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1323150764	p.Ile415Leu	missense variant	-	NC_000004.12:g.128948546T>G	TOPMed
rs201631269	p.Arg417Ter	stop gained	-	NC_000004.12:g.128948540G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs141916321	p.Arg417Gln	missense variant	-	NC_000004.12:g.128948539C>T	ESP,ExAC,TOPMed,gnomAD
rs141916321	p.Arg417Leu	missense variant	-	NC_000004.12:g.128948539C>A	ESP,ExAC,TOPMed,gnomAD
rs771772363	p.Ile419Val	missense variant	-	NC_000004.12:g.128948534T>C	ExAC,gnomAD
rs771772363	p.Ile419Phe	missense variant	-	NC_000004.12:g.128948534T>A	ExAC,gnomAD
rs1323700297	p.Glu421Val	missense variant	-	NC_000004.12:g.128948527T>A	gnomAD
rs1323700297	p.Glu421Gly	missense variant	-	NC_000004.12:g.128948527T>C	gnomAD
NCI-TCGA novel	p.Lys423SerPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.128948520_128948521TT>-	NCI-TCGA
COSM1427026	p.Ala424GlnPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.128948520T>-	NCI-TCGA Cosmic
rs781735051	p.Ala424SerPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.128948519_128948520insT	NCI-TCGA,NCI-TCGA Cosmic
rs938590409	p.Glu426Lys	missense variant	-	NC_000004.12:g.128948513C>T	TOPMed
COSM72551	p.Glu427Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128948509T>A	NCI-TCGA Cosmic
rs778704461	p.Glu427Lys	missense variant	-	NC_000004.12:g.128948510C>T	ExAC,gnomAD
rs776840382	p.Glu428Asp	missense variant	-	NC_000004.12:g.128948505T>G	ExAC,TOPMed,gnomAD
rs1424159138	p.Lys431Thr	missense variant	-	NC_000004.12:g.128948497T>G	TOPMed
rs145872583	p.Ile432Phe	missense variant	-	NC_000004.12:g.128946152T>A	ESP,ExAC,TOPMed
rs770811437	p.Tyr433Cys	missense variant	-	NC_000004.12:g.128946148T>C	ExAC,gnomAD
rs200051986	p.Arg434Leu	missense variant	-	NC_000004.12:g.128946145C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200051986	p.Arg434His	missense variant	-	NC_000004.12:g.128946145C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs376175823	p.Arg434Cys	missense variant	-	NC_000004.12:g.128946146G>A	ESP,ExAC,TOPMed,gnomAD
rs747760423	p.Gly436Asp	missense variant	-	NC_000004.12:g.128946139C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly438Ter	stop gained	-	NC_000004.12:g.128946134C>A	NCI-TCGA
rs780692789	p.Gly438Glu	missense variant	-	NC_000004.12:g.128946133C>T	ExAC,TOPMed,gnomAD
rs1326499482	p.Asn439Ser	missense variant	-	NC_000004.12:g.128946130T>C	gnomAD
rs10028124	p.Ser441Cys	missense variant	-	NC_000004.12:g.128946125T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser441Asn	missense variant	-	NC_000004.12:g.128946124C>T	NCI-TCGA
rs750715703	p.Tyr443Cys	missense variant	-	NC_000004.12:g.128946118T>C	ExAC,gnomAD
rs779358024	p.Lys445Gln	missense variant	-	NC_000004.12:g.128946113T>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu447Ter	stop gained	-	NC_000004.12:g.128946107C>A	NCI-TCGA
COSM4391177	p.Glu448Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128946104C>G	NCI-TCGA Cosmic
rs1359615869	p.Met449Ile	missense variant	-	NC_000004.12:g.128946099C>T	TOPMed,gnomAD
rs1161218017	p.Met449Arg	missense variant	-	NC_000004.12:g.128946100A>C	gnomAD
rs1433009757	p.Met449Val	missense variant	-	NC_000004.12:g.128946101T>C	TOPMed
rs1359615869	p.Met449Ile	missense variant	-	NC_000004.12:g.128946099C>A	TOPMed,gnomAD
rs1414242072	p.Phe453Val	missense variant	-	NC_000004.12:g.128946089A>C	TOPMed,gnomAD
rs760826666	p.Phe453Leu	missense variant	-	NC_000004.12:g.128946087G>T	ExAC,gnomAD
rs376156624	p.Phe453Tyr	missense variant	-	NC_000004.12:g.128946088A>T	ESP,ExAC,gnomAD
COSM3600249	p.Phe453Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128946089A>T	NCI-TCGA Cosmic
COSM3600247	p.Phe453Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128946089A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu454Gln	missense variant	-	NC_000004.12:g.128946085A>T	NCI-TCGA
NCI-TCGA novel	p.Ser456Ter	stop gained	-	NC_000004.12:g.128946079G>C	NCI-TCGA
rs112358448	p.Arg458His	missense variant	-	NC_000004.12:g.128946073C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767602025	p.Arg458Ser	missense variant	-	NC_000004.12:g.128946074G>T	ExAC,TOPMed,gnomAD
rs767602025	p.Arg458Cys	missense variant	-	NC_000004.12:g.128946074G>A	ExAC,TOPMed,gnomAD
rs112358448	p.Arg458Leu	missense variant	-	NC_000004.12:g.128946073C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767602025	p.Arg458Gly	missense variant	-	NC_000004.12:g.128946074G>C	ExAC,TOPMed,gnomAD
rs773964733	p.Ser459Ter	stop gained	-	NC_000004.12:g.128946070G>C	ExAC,gnomAD
rs1224645259	p.Lys460Glu	missense variant	-	NC_000004.12:g.128946068T>C	TOPMed
rs1466677682	p.Lys460Arg	missense variant	-	NC_000004.12:g.128946067T>C	gnomAD
rs1269446312	p.Asp462Gly	missense variant	-	NC_000004.12:g.128946061T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Asp462Tyr	missense variant	-	NC_000004.12:g.128946062C>A	NCI-TCGA
NCI-TCGA novel	p.Leu463Phe	missense variant	-	NC_000004.12:g.128946059G>A	NCI-TCGA
rs762809545	p.Thr468Arg	missense variant	-	NC_000004.12:g.128946043G>C	ExAC,TOPMed,gnomAD
rs762809545	p.Thr468Met	missense variant	-	NC_000004.12:g.128946043G>A	ExAC,TOPMed,gnomAD
rs1185364571	p.Arg469Gly	missense variant	-	NC_000004.12:g.128946041T>C	TOPMed
rs769779138	p.Ile474Val	missense variant	-	NC_000004.12:g.128946026T>C	ExAC,gnomAD
rs747582277	p.Ile474Thr	missense variant	-	NC_000004.12:g.128946025A>G	ExAC,gnomAD
rs1432766804	p.Gln476Ter	stop gained	-	NC_000004.12:g.128946020G>A	gnomAD
rs768144691	p.Thr479Ile	missense variant	-	NC_000004.12:g.128946010G>A	ExAC,TOPMed,gnomAD
rs768144691	p.Thr479Asn	missense variant	-	NC_000004.12:g.128946010G>T	ExAC,TOPMed,gnomAD
rs746688024	p.Asp480Asn	missense variant	-	NC_000004.12:g.128946008C>T	ExAC,gnomAD
rs757265016	p.Ser482Leu	missense variant	-	NC_000004.12:g.128943183G>A	ExAC,gnomAD
rs778310681	p.Glu483Lys	missense variant	-	NC_000004.12:g.128943181C>T	ExAC,TOPMed,gnomAD
rs778310681	p.Glu483Gln	missense variant	-	NC_000004.12:g.128943181C>G	ExAC,TOPMed,gnomAD
COSM1427024	p.Ile485Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128943173T>C	NCI-TCGA Cosmic
rs889846876	p.Ile485Lys	missense variant	-	NC_000004.12:g.128943174A>T	TOPMed,gnomAD
rs756527243	p.Ser486Pro	missense variant	-	NC_000004.12:g.128943172A>G	ExAC,TOPMed,gnomAD
rs756527243	p.Ser486Ala	missense variant	-	NC_000004.12:g.128943172A>C	ExAC,TOPMed,gnomAD
rs748697531	p.Arg487Cys	missense variant	-	NC_000004.12:g.128943169G>A	ExAC,TOPMed,gnomAD
rs371973931	p.Arg487His	missense variant	-	NC_000004.12:g.128943168C>T	ESP,ExAC,TOPMed,gnomAD
COSM3600243	p.Gln496Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.128943142G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn497Ile	missense variant	-	NC_000004.12:g.128943138T>A	NCI-TCGA
rs1372806172	p.Val498Ile	missense variant	-	NC_000004.12:g.128943136C>T	gnomAD
NCI-TCGA novel	p.Glu502Lys	missense variant	-	NC_000004.12:g.128943124C>T	NCI-TCGA
rs77885682	p.Arg503Lys	missense variant	-	NC_000004.12:g.128943120C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761590675	p.Glu504Gly	missense variant	-	NC_000004.12:g.128943117T>C	ExAC,gnomAD
rs199761521	p.Glu504Asp	missense variant	-	NC_000004.12:g.128943116C>G	1000Genomes
rs572560518	p.Asn505Asp	missense variant	-	NC_000004.12:g.128943115T>C	ExAC,TOPMed,gnomAD
rs1164670487	p.Asn505Lys	missense variant	-	NC_000004.12:g.128943113G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Asn505ArgPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.128943114_128943115insTC	NCI-TCGA
rs764001067	p.Cys506Phe	missense variant	-	NC_000004.12:g.128943111C>A	ExAC,gnomAD
rs1177530521	p.Gly507Val	missense variant	-	NC_000004.12:g.128943108C>A	gnomAD
rs1249333494	p.Ser510Gly	missense variant	-	NC_000004.12:g.128943100T>C	gnomAD
COSM4122231	p.Gln512Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128943093T>C	NCI-TCGA Cosmic
rs141960392	p.Lys515Gln	missense variant	-	NC_000004.12:g.128943085T>G	ESP,ExAC,gnomAD
rs1257705164	p.Gln517His	missense variant	-	NC_000004.12:g.128943077C>A	gnomAD
rs1233977911	p.Glu519Lys	missense variant	-	NC_000004.12:g.128943073C>T	gnomAD
rs1233977911	p.Glu519Gln	missense variant	-	NC_000004.12:g.128943073C>G	gnomAD
rs1316449288	p.Asn520Asp	missense variant	-	NC_000004.12:g.128943070T>C	gnomAD
rs748526821	p.Gln522Arg	missense variant	-	NC_000004.12:g.128943063T>C	ExAC,TOPMed,gnomAD
rs748526821	p.Gln522Leu	missense variant	-	NC_000004.12:g.128943063T>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln522Ter	stop gained	-	NC_000004.12:g.128943064G>A	NCI-TCGA
rs367930155	p.Arg524Trp	missense variant	-	NC_000004.12:g.128943058G>A	ESP,ExAC,TOPMed,gnomAD
rs1312635867	p.Arg524Gln	missense variant	-	NC_000004.12:g.128943057C>T	gnomAD
rs1394666447	p.Lys525Glu	missense variant	-	NC_000004.12:g.128943055T>C	gnomAD
rs780130683	p.Thr527Ala	missense variant	-	NC_000004.12:g.128943049T>C	ExAC,TOPMed,gnomAD
rs1182733005	p.Glu528Asp	missense variant	-	NC_000004.12:g.128943044C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Glu528Gln	missense variant	-	NC_000004.12:g.128943046C>G	NCI-TCGA
rs750649119	p.Glu528Gly	missense variant	-	NC_000004.12:g.128943045T>C	ExAC,TOPMed,gnomAD
rs1182733005	p.Glu528Asp	missense variant	-	NC_000004.12:g.128943044C>A	TOPMed,gnomAD
rs1410556146	p.Leu530Ile	missense variant	-	NC_000004.12:g.128943040A>T	gnomAD
rs779072100	p.Leu530Ter	stop gained	-	NC_000004.12:g.128943039A>C	ExAC,TOPMed,gnomAD
rs144166835	p.Ile533Phe	missense variant	-	NC_000004.12:g.128943031T>A	ESP,ExAC,TOPMed,gnomAD
rs144166835	p.Ile533Val	missense variant	-	NC_000004.12:g.128943031T>C	ESP,ExAC,TOPMed,gnomAD
rs760728436	p.Ile533Asn	missense variant	-	NC_000004.12:g.128943030A>T	ExAC,TOPMed,gnomAD
rs760728436	p.Ile533Thr	missense variant	-	NC_000004.12:g.128943030A>G	ExAC,TOPMed,gnomAD
rs1200992192	p.Ala534Asp	missense variant	-	NC_000004.12:g.128943027G>T	gnomAD
rs752202720	p.Glu536Gly	missense variant	-	NC_000004.12:g.128943021T>C	ExAC,TOPMed,gnomAD
rs767147286	p.Gln538Lys	missense variant	-	NC_000004.12:g.128943016G>T	ExAC,TOPMed,gnomAD
rs759187846	p.Gln538Pro	missense variant	-	NC_000004.12:g.128943015T>G	ExAC,gnomAD
rs774139322	p.Lys539Ter	stop gained	-	NC_000004.12:g.128943013T>A	ExAC,gnomAD
rs774139322	p.Lys539Glu	missense variant	-	NC_000004.12:g.128943013T>C	ExAC,gnomAD
rs1043717124	p.Lys540Arg	missense variant	-	NC_000004.12:g.128943009T>C	TOPMed,gnomAD
rs1313944682	p.Ala541Asp	missense variant	-	NC_000004.12:g.128943006G>T	gnomAD
rs760494753	p.Ala541ProPheSerTerUnk	frameshift	-	NC_000004.12:g.128943008T>-	NCI-TCGA,NCI-TCGA Cosmic
rs1346108044	p.Lys542Glu	missense variant	-	NC_000004.12:g.128943004T>C	TOPMed
rs762215370	p.Lys544Arg	missense variant	-	NC_000004.12:g.128942997T>C	ExAC,TOPMed,gnomAD
rs751079883	p.Ser546Asn	missense variant	-	NC_000004.12:g.128936847C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser546Ile	missense variant	-	NC_000004.12:g.128936847C>A	NCI-TCGA
rs766021378	p.Thr547Ala	missense variant	-	NC_000004.12:g.128936845T>C	ExAC,gnomAD
rs1482047190	p.Met548Val	missense variant	-	NC_000004.12:g.128936842T>C	TOPMed
rs776998041	p.His550Arg	missense variant	-	NC_000004.12:g.128936835T>C	ExAC,gnomAD
rs1392501926	p.Phe552Ile	missense variant	-	NC_000004.12:g.128936830A>T	gnomAD
rs768908934	p.Ile554Val	missense variant	-	NC_000004.12:g.128936824T>C	ExAC,TOPMed,gnomAD
rs761095163	p.Lys555Asn	missense variant	-	NC_000004.12:g.128936819C>G	ExAC,TOPMed,gnomAD
rs1388201771	p.Glu556Gly	missense variant	-	NC_000004.12:g.128936817T>C	gnomAD
rs149400028	p.Arg557His	missense variant	-	NC_000004.12:g.128936814C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201434760	p.Arg557Cys	missense variant	-	NC_000004.12:g.128936815G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs962930772	p.Gly558Glu	missense variant	-	NC_000004.12:g.128936811C>T	TOPMed,gnomAD
rs1246169596	p.Gly558Arg	missense variant	-	NC_000004.12:g.128936812C>T	gnomAD
rs138052297	p.Gln562Lys	missense variant	-	NC_000004.12:g.128936800G>T	ESP,ExAC,TOPMed,gnomAD
rs749482329	p.Glu565Lys	missense variant	-	NC_000004.12:g.128936791C>T	ExAC,gnomAD
COSM6166510	p.Glu565Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128936789C>G	NCI-TCGA Cosmic
rs755965227	p.Met566Val	missense variant	-	NC_000004.12:g.128936788T>C	ExAC,TOPMed,gnomAD
rs755965227	p.Met566Leu	missense variant	-	NC_000004.12:g.128936788T>G	ExAC,TOPMed,gnomAD
rs1347846930	p.Met566Ile	missense variant	-	NC_000004.12:g.128936786C>A	gnomAD
rs748010222	p.Glu567Lys	missense variant	-	NC_000004.12:g.128936785C>T	ExAC,gnomAD
rs1436274716	p.Ser569Arg	missense variant	-	NC_000004.12:g.128936777A>T	TOPMed
rs141275432	p.Ser569Asn	missense variant	-	NC_000004.12:g.128936778C>T	ESP,gnomAD
rs1408937665	p.Asn572Ser	missense variant	-	NC_000004.12:g.128936769T>C	gnomAD
rs755006037	p.Ile574Val	missense variant	-	NC_000004.12:g.128936764T>C	ExAC,TOPMed,gnomAD
rs1012259586	p.Ile574Thr	missense variant	-	NC_000004.12:g.128936763A>G	TOPMed,gnomAD
rs201371726	p.Val575Ala	missense variant	-	NC_000004.12:g.128936760A>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu576Gln	missense variant	-	NC_000004.12:g.128936758C>G	NCI-TCGA
rs138724704	p.Ala582Val	missense variant	-	NC_000004.12:g.128936739G>A	ESP,TOPMed,gnomAD
rs761009262	p.Gln584Leu	missense variant	-	NC_000004.12:g.128936733T>A	ExAC,gnomAD
rs572035718	p.Lys586Arg	missense variant	-	NC_000004.12:g.128936727T>C	ExAC,TOPMed,gnomAD
rs767975054	p.Ala588Val	missense variant	-	NC_000004.12:g.128936721G>A	ExAC,TOPMed,gnomAD
rs367587985	p.Asn589Ser	missense variant	-	NC_000004.12:g.128936718T>C	ESP,TOPMed,gnomAD
rs1216929430	p.Arg590Ser	missense variant	-	NC_000004.12:g.128936714C>G	gnomAD
rs1486984133	p.Lys592Glu	missense variant	-	NC_000004.12:g.128936710T>C	TOPMed
NCI-TCGA novel	p.Glu593Gln	missense variant	-	NC_000004.12:g.128936707C>G	NCI-TCGA
rs1220332046	p.Glu594Asp	missense variant	-	NC_000004.12:g.128936702T>G	gnomAD
NCI-TCGA novel	p.Glu594Ter	stop gained	-	NC_000004.12:g.128936704C>A	NCI-TCGA
rs201991504	p.Thr595Ser	missense variant	-	NC_000004.12:g.128936701T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs373795627	p.Thr595Met	missense variant	-	NC_000004.12:g.128936700G>A	ESP,ExAC,TOPMed,gnomAD
rs373795627	p.Thr595Arg	missense variant	-	NC_000004.12:g.128936700G>C	ESP,ExAC,TOPMed,gnomAD
COSM4825439	p.Glu600Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128936686C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala602Ser	missense variant	-	NC_000004.12:g.128936680C>A	NCI-TCGA
rs1410223845	p.Glu603Ala	missense variant	-	NC_000004.12:g.128936676T>G	gnomAD
rs770189357	p.Ile604Val	missense variant	-	NC_000004.12:g.128936674T>C	ExAC,TOPMed,gnomAD
rs754418924	p.Arg605Lys	missense variant	-	NC_000004.12:g.128936670C>T	gnomAD
NCI-TCGA novel	p.Arg605Thr	missense variant	-	NC_000004.12:g.128936670C>G	NCI-TCGA
rs781164564	p.Ile606Met	missense variant	-	NC_000004.12:g.128936666G>C	ExAC,gnomAD
rs1320943184	p.Asn607Ser	missense variant	-	NC_000004.12:g.128936664T>C	TOPMed,gnomAD
rs754913227	p.Asn608Lys	missense variant	-	NC_000004.12:g.128936660A>C	ExAC,gnomAD
rs554600523	p.Leu609Pro	missense variant	-	NC_000004.12:g.128936658A>G	1000Genomes,ExAC,gnomAD
rs762147543	p.Lys610Asn	missense variant	-	NC_000004.12:g.128891137C>A	ExAC,gnomAD
rs1187312716	p.Ser614Arg	missense variant	-	NC_000004.12:g.128891127T>G	gnomAD
rs115634955	p.Arg615Gly	missense variant	-	NC_000004.12:g.128891124G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs372975601	p.Arg615Gln	missense variant	-	NC_000004.12:g.128891123C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs115634955	p.Arg615Ter	stop gained	-	NC_000004.12:g.128891124G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM480855	p.Lys617Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128891116T>G	NCI-TCGA Cosmic
rs779835916	p.Leu618Arg	missense variant	-	NC_000004.12:g.128891114A>C	ExAC,gnomAD
rs772089971	p.His619Leu	missense variant	-	NC_000004.12:g.128891111T>A	ExAC,gnomAD
rs778421578	p.Gln621Arg	missense variant	-	NC_000004.12:g.128891105T>C	ExAC,gnomAD
rs756848481	p.Glu622Gln	missense variant	-	NC_000004.12:g.128891103C>G	ExAC,gnomAD
rs777465945	p.Ser625Pro	missense variant	-	NC_000004.12:g.128891094A>G	ExAC,TOPMed,gnomAD
rs1479099522	p.Gln626Ter	stop gained	-	NC_000004.12:g.128891091G>A	TOPMed
rs752001813	p.Glu628Asp	missense variant	-	NC_000004.12:g.128891083T>A	ExAC
rs1211437059	p.Met629Ile	missense variant	-	NC_000004.12:g.128891080C>T	gnomAD
NCI-TCGA novel	p.Met629Ile	missense variant	-	NC_000004.12:g.128891080C>A	NCI-TCGA
rs766763388	p.Ala630Thr	missense variant	-	NC_000004.12:g.128891079C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala630Ser	missense variant	-	NC_000004.12:g.128891079C>A	NCI-TCGA
rs750481269	p.Lys633Asn	missense variant	-	NC_000004.12:g.128891068C>A	ExAC,TOPMed,gnomAD
rs1390994889	p.Val634Leu	missense variant	-	NC_000004.12:g.128891067C>A	TOPMed
rs1406324806	p.Ala635Thr	missense variant	-	NC_000004.12:g.128891064C>T	gnomAD
rs1390057257	p.Ala635Asp	missense variant	-	NC_000004.12:g.128891063G>T	gnomAD
NCI-TCGA novel	p.Glu636Lys	missense variant	-	NC_000004.12:g.128891061C>T	NCI-TCGA
rs765904503	p.Asn637Ser	missense variant	-	NC_000004.12:g.128888773T>C	ExAC,gnomAD
rs1250792924	p.Leu640Ile	missense variant	-	NC_000004.12:g.128888765G>T	TOPMed,gnomAD
rs1483957187	p.Glu643Val	missense variant	-	NC_000004.12:g.128888755T>A	gnomAD
rs201260499	p.Gln645Glu	missense variant	-	NC_000004.12:g.128888750G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1310547618	p.Lys647Glu	missense variant	-	NC_000004.12:g.128888744T>C	gnomAD
rs1407977227	p.Leu651His	missense variant	-	NC_000004.12:g.128888731A>T	TOPMed
rs531031008	p.Arg654Cys	missense variant	-	NC_000004.12:g.128888723G>A	gnomAD
rs532919376	p.Arg654His	missense variant	-	NC_000004.12:g.128888722C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs770901348	p.Gln657His	missense variant	-	NC_000004.12:g.128888712C>G	ExAC,TOPMed,gnomAD
rs748762989	p.Ala658Thr	missense variant	-	NC_000004.12:g.128888711C>T	ExAC,gnomAD
rs772808785	p.Ala662Thr	missense variant	-	NC_000004.12:g.128888699C>T	ExAC,gnomAD
COSM6166512	p.Ala662Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128888698G>A	NCI-TCGA Cosmic
COSM3600241	p.Ser664Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128888692G>A	NCI-TCGA Cosmic
rs559136001	p.Ala665Val	missense variant	-	NC_000004.12:g.128888689G>A	1000Genomes,ExAC,gnomAD
rs747850414	p.Ser666Thr	missense variant	-	NC_000004.12:g.128888687A>T	ExAC,gnomAD
rs1480558026	p.Ser666Cys	missense variant	-	NC_000004.12:g.128888686G>C	TOPMed,gnomAD
rs1197736116	p.Gln667Ter	stop gained	-	NC_000004.12:g.128888684G>A	TOPMed
rs1410778998	p.Gln668Ter	stop gained	-	NC_000004.12:g.128888681G>A	gnomAD
NCI-TCGA novel	p.Leu669Pro	missense variant	-	NC_000004.12:g.128884538A>G	NCI-TCGA
NCI-TCGA novel	p.Leu669Phe	missense variant	-	NC_000004.12:g.128884539G>A	NCI-TCGA
rs976235764	p.Ser670Gly	missense variant	-	NC_000004.12:g.128884536T>C	TOPMed
rs762899850	p.Ile672Val	missense variant	-	NC_000004.12:g.128884530T>C	ExAC,gnomAD
rs772537895	p.Thr673Ile	missense variant	-	NC_000004.12:g.128884526G>A	ExAC,gnomAD
rs747678805	p.Val674Leu	missense variant	-	NC_000004.12:g.128884524C>A	ExAC,TOPMed,gnomAD
rs747678805	p.Val674Met	missense variant	-	NC_000004.12:g.128884524C>T	ExAC,TOPMed,gnomAD
rs747678805	p.Val674Leu	missense variant	-	NC_000004.12:g.128884524C>G	ExAC,TOPMed,gnomAD
rs776326397	p.Val674Ala	missense variant	-	NC_000004.12:g.128884523A>G	ExAC,gnomAD
rs1243077278	p.Gln675Pro	missense variant	-	NC_000004.12:g.128884520T>G	gnomAD
rs768464249	p.Gln675Ter	stop gained	-	NC_000004.12:g.128884521G>A	ExAC,TOPMed,gnomAD
rs746196883	p.Arg676Gly	missense variant	-	NC_000004.12:g.128884518T>C	ExAC,gnomAD
rs779446072	p.Ala679Thr	missense variant	-	NC_000004.12:g.128884509C>T	ExAC,TOPMed,gnomAD
rs1474042281	p.Ala680Ser	missense variant	-	NC_000004.12:g.128884506C>A	gnomAD
rs1452678363	p.Ala680Gly	missense variant	-	NC_000004.12:g.128884505G>C	gnomAD
rs913316488	p.Met683Ile	missense variant	-	NC_000004.12:g.128884495C>T	TOPMed
COSM267383	p.Met683Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128884497T>G	NCI-TCGA Cosmic
rs749809941	p.Met683Val	missense variant	-	NC_000004.12:g.128884497T>C	ExAC,TOPMed,gnomAD
rs913316488	p.Met683Ile	missense variant	-	NC_000004.12:g.128884495C>A	TOPMed
rs142473295	p.Ter689Gln	stop lost	-	NC_000004.12:g.128884479A>G	ESP,ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0002312	alpha-Thalassemia	disease	BEFREE
C0005283	beta Thalassemia	disease	BEFREE
C0006849	Oral candidiasis	disease	BEFREE
C0006852	Candidiasis of vagina	disease	BEFREE
C0009319	Colitis	disease	BEFREE
C0019163	Hepatitis B	disease	BEFREE
C0021390	Inflammatory Bowel Diseases	group	BEFREE
C0022679	Cystic kidney	disease	BEFREE
C0023522	Leukodystrophy, Metachromatic	disease	BEFREE
C0023524	Leukoencephalopathy, Progressive Multifocal	disease	BEFREE
C0024117	Chronic Obstructive Airway Disease	disease	GWASCAT
C0024530	Malaria	disease	BEFREE
C0029294	Orofaciodigital Syndromes	disease	BEFREE
C0042251	Vaginal Diseases	group	BEFREE
C0085548	Autosomal Recessive Polycystic Kidney Disease	disease	MGD
C0404521	Infective vaginitis	disease	BEFREE
C0687120	Nephronophthisis	disease	BEFREE
C1112211	Hepatic infection	disease	BEFREE
C1456873	alpha^+^ Thalassemia	disease	BEFREE
C2873756	Severe beta thalassemia	disease	BEFREE
C3841475	beta^+^ Thalassemia	disease	BEFREE
C4277690	Ciliopathies	group	BEFREE;GENOMICS_ENGLAND;MGD

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0008022	protein C-terminus binding	IEA
GO:0017080	sodium channel regulator activity	IEA
GO:0030276	clathrin binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0045162	clustering of voltage-gated sodium channels	IEA
GO:0060271	cilium assembly	IMP
GO:0097711	ciliary basal body-plasma membrane docking	TAS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005813	centrosome	IDA
GO:0005814	centriole	IDA
GO:0005829	cytosol	TAS
GO:0071439	clathrin complex	IEA
GO:0097539	ciliary transition fiber	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1852241	Organelle biogenesis and maintenance	TAS
R-HSA-5617833	Cilium Assembly	TAS
R-HSA-5620912	Anchoring of the basal body to the plasma membrane	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C011269	2,5-hexanedione	2,5-hexanedione results in increased expression of SCLT1 mRNA	22952946
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of SCLT1 mRNA	27188386
D000082	Acetaminophen	Acetaminophen results in increased expression of SCLT1 mRNA	22230336
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of SCLT1 mRNA	16483693
D000952	Antigens, Polyomavirus Transforming	Antigens, Polyomavirus Transforming results in increased expression of SCLT1 mRNA	26680231
C547126	AZM551248	AZM551248 results in increased expression of SCLT1 mRNA	22323515
C487081	belinostat	belinostat results in increased expression of SCLT1 mRNA	27188386
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of SCLT1 mRNA	20106945; 21632981; 22316170; 26238291;
C006780	bisphenol A	bisphenol A affects the expression of SCLT1 mRNA	21786754
C006780	bisphenol A	bisphenol A results in increased methylation of SCLT1 intron	30906313
C006780	bisphenol A	bisphenol A results in decreased expression of SCLT1 mRNA	29275510
C006780	bisphenol A	bisphenol A results in decreased expression of SCLT1 mRNA	21932408
C006780	bisphenol A	bisphenol A results in decreased expression of SCLT1 mRNA	25181051
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of SCLT1 mRNA	24982889
D002117	Calcitriol	Calcitriol results in decreased expression of SCLT1 mRNA	21592394
D002117	Calcitriol	[Testosterone co-treated with Calcitriol] results in decreased expression of SCLT1 mRNA	21592394
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of SCLT1 mRNA	27392435
D002945	Cisplatin	Cisplatin results in decreased expression of SCLT1 mRNA	27392435
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of SCLT1 mRNA	19549813
C000944	dicrotophos	dicrotophos results in decreased expression of SCLT1 mRNA	28302478
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of SCLT1 mRNA	27188386
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of SCLT1 mRNA	23129252
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in decreased expression of SCLT1 mRNA	23649840
D005557	Formaldehyde	Formaldehyde results in increased expression of SCLT1 mRNA	23649840
C069837	fullerene C60	fullerene C60 results in decreased expression of SCLT1 mRNA	19167457
D007213	Indomethacin	Indomethacin results in decreased expression of SCLT1 mRNA	28201806
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of SCLT1 mRNA	27392435
C002385	linsidomine	linsidomine results in increased oxidation of SCLT1 protein	28086193
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of SCLT1 mRNA	28001369
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of SCLT1 mRNA	26011545
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of SCLT1 mRNA	23649840
C016599	mono-(2-ethylhexyl)phthalate	mono-(2-ethylhexyl)phthalate results in decreased expression of SCLT1 mRNA	31059758
C583365	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide results in decreased expression of SCLT1 mRNA	29244179
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in decreased expression of SCLT1 mRNA	25729387
D000077150	Oxaliplatin	Oxaliplatin results in decreased expression of SCLT1 mRNA	25729387
D052638	Particulate Matter	Particulate Matter results in increased expression of SCLT1 mRNA	29703138
D010936	Plant Extracts	Plant Extracts results in increased expression of SCLT1 mRNA	23557933
D011374	Progesterone	Progesterone results in increased expression of SCLT1 mRNA	19690047
D011794	Quercetin	Quercetin results in decreased expression of SCLT1 mRNA	21632981
D012969	Sodium Fluoride	Sodium Fluoride results in decreased expression of SCLT1 mRNA	27862939
D013739	Testosterone	[Testosterone co-treated with Calcitriol] results in decreased expression of SCLT1 mRNA	21592394
D013739	Testosterone	Testosterone results in decreased expression of SCLT1 mRNA	21592394
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of SCLT1 mRNA	17101203
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of SCLT1 mRNA	19465110
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of SCLT1 mRNA	21215274
D019284	Thapsigargin	Thapsigargin results in decreased expression of SCLT1 protein	24648495
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of SCLT1 mRNA	28065790
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in decreased expression of SCLT1 mRNA	25729387
C012589	trichostatin A	trichostatin A results in increased expression of SCLT1 mRNA	24935251; 26272509;
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of SCLT1 mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in increased expression of SCLT1 mRNA	24935251; 26272509;
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of SCLT1 gene	25560391
C025643	vinclozolin	vinclozolin results in decreased expression of SCLT1 mRNA	22570695
D014750	Vincristine	Vincristine results in increased expression of SCLT1 mRNA	23649840
D000077337	Vorinostat	Vorinostat results in increased expression of SCLT1 mRNA	27188386

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0007	Acetylation
KW-0025	Alternative splicing
KW-0175	Coiled coil
KW-0963	Cytoplasm
KW-0206	Cytoskeleton
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR038911	SCLT1

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term

Gene: SCLT1

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