CleftGeneDB-Search

Gene: HHAT

Basic information

Tag	Content
Uniprot ID	Q5VTY9; B7Z4D5; B7Z5I1; B7Z868; B7ZA75; D3DT91; F5H444; Q17RZ7; Q4G0K3; Q5CZ95; Q5TGI2; Q9NVH9; Q9Y3N8;
Entrez ID	55733
Genbank protein ID	BAH14561.1; BAH14895.1; EAW93428.1; EAW93427.1; EAW93430.1; BAH12917.1; CAB42852.1; CAI56771.1; BAH12521.1; AAI17131.1; BAA91772.1; BAH13854.1;
Genbank nucleotide ID	XM_011509740.2; NM_001170588.2; XM_011509739.2; XM_011509746.2; XM_017001729.1; NM_001122834.3; XM_011509741.2; XM_017001732.1; XM_017001737.1; NM_018194.5; NM_001170564.2; XM_017001735.1; NM_001170587.2; NM_001170580.2;
Ensembl protein ID	ENSP00000261458; ENSP00000355977; ENSP00000416845; ENSP00000486634; ENSP00000487414; ENSP00000444995; ENSP00000486611; ENSP00000486128; ENSP00000438468; ENSP00000487400; ENSP00000442625; ENSP00000486054;
Ensembl nucleotide ID	ENSG00000054392; ENSG00000280680;
Gene name	Protein-cysteine N-palmitoyltransferase HHAT
Gene symbol	HHAT
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Catalyzes N-terminal palmitoylation of SHH; which is required for SHH signaling. May bind GTP.
Sequence	MLPRWELALY LLASLGFHFY SFYEVYKVSR EHEEELDQEF ELETDTLFGG LKKDATDFEW 60 SFWMEWGKQW LVWLLLGHMV VSQMATLLAR KHRPWILMLY GMWACWCVLG TPGVAMVLLH 120 TTISFCVAQF RSQLLTWLCS LLLLSTLRLQ GVEEVKRRWY KTENEYYLLQ FTLTVRCLYY 180 TSFSLELCWQ QLPAASTSYS FPWMLAYVFY YPVLHNGPIL SFSEFIKQMQ QQEHDSLKAS 240 LCVLALGLGR LLCWWWLAEL MAHLMYMHAI YSSIPLLETV SCWTLGGLAL AQVLFFYVKY 300 LVLFGVPALL MRLDGLTPPA LPRCVSTMFS FTGMWRYFDV GLHNFLIRYV YIPVGGSQHG 360 LLGTLFSTAM TFAFVSYWHG GYDYLWCWAA LNWLGVTVEN GVRRLVETPC IQDSLARYFS 420 PQARRRFHAA LASCSTSMLI LSNLVFLGGN EVGKTYWNRI FIQGWPWVTL SVLGFLYCYS 480 HVGIAWAQTY ATD 493

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	HHAT	480017	A0A5F4DKS6		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	HHAT	102188788	A0A452E3S0		Capra hircus	Prediction	More>>
1:1 ortholog	HHAT	55733	Q5VTY9		Homo sapiens	Prediction	More>>
1:1 ortholog	Hhat	226861	Q8BMT9	CLP	Mus musculus	Publication	More>>
1:1 ortholog	HHAT	469670	H2Q128		Pan troglodytes	Prediction	More>>
1:1 ortholog	HHAT		F1S2U1		Sus scrofa	Prediction	More>>
1:1 ortholog	Hhat		M0R7X5		Rattus norvegicus	Prediction	More>>
1:1 ortholog	hhat	560334	F8W2J4		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
RCV000624001	p.Met1Leu	missense variant	Inborn genetic diseases	NC_000001.11:g.210348976A>T	ClinVar
rs750211206	p.Leu2Val	missense variant	-	NC_000001.11:g.210348979C>G	ExAC,gnomAD
rs758421766	p.Arg4Gln	missense variant	-	NC_000001.11:g.210348986G>A	ExAC,gnomAD
rs779025178	p.Arg4Gly	missense variant	-	NC_000001.11:g.210348985C>G	ExAC,TOPMed,gnomAD
rs779025178	p.Arg4Ter	stop gained	-	NC_000001.11:g.210348985C>T	ExAC,TOPMed,gnomAD
rs777897235	p.Trp5Arg	missense variant	-	NC_000001.11:g.210348988T>C	ExAC,TOPMed,gnomAD
rs747583836	p.Glu6Lys	missense variant	-	NC_000001.11:g.210348991G>A	ExAC,gnomAD
rs150162144	p.Ala8Thr	missense variant	-	NC_000001.11:g.210348997G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143903658	p.Leu9Phe	missense variant	-	NC_000001.11:g.210349000C>T	1000Genomes,ExAC,gnomAD
rs143903658	p.Leu9Ile	missense variant	-	NC_000001.11:g.210349000C>A	1000Genomes,ExAC,gnomAD
rs1321878496	p.Leu12Val	missense variant	-	NC_000001.11:g.210349009C>G	TOPMed,gnomAD
rs775006103	p.Ala13Val	missense variant	-	NC_000001.11:g.210349013C>T	ExAC,gnomAD
rs763566623	p.Phe17Val	missense variant	-	NC_000001.11:g.210349024T>G	ExAC,gnomAD
rs141741088	p.Phe17Leu	missense variant	-	NC_000001.11:g.210349026C>G	ESP,ExAC,TOPMed,gnomAD
rs761879800	p.Phe19Leu	missense variant	-	NC_000001.11:g.210349030T>C	ExAC,gnomAD
rs1183312420	p.Tyr20Cys	missense variant	-	NC_000001.11:g.210349034A>G	TOPMed,gnomAD
rs138327418	p.Tyr23Cys	missense variant	-	NC_000001.11:g.210349043A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756004234	p.Tyr26Phe	missense variant	-	NC_000001.11:g.210349052A>T	ExAC,TOPMed,gnomAD
rs756004234	p.Tyr26Cys	missense variant	-	NC_000001.11:g.210349052A>G	ExAC,TOPMed,gnomAD
rs1454105739	p.Lys27Arg	missense variant	-	NC_000001.11:g.210349055A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Val28Phe	missense variant	-	NC_000001.11:g.210349057G>T	NCI-TCGA
rs752918841	p.Ser29Cys	missense variant	-	NC_000001.11:g.210349061C>G	ExAC,gnomAD
NCI-TCGA novel	p.Arg30Ile	missense variant	-	NC_000001.11:g.210349064G>T	NCI-TCGA
rs186282077	p.Glu31Asp	missense variant	-	NC_000001.11:g.210362853A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs751737702	p.Glu33Lys	missense variant	-	NC_000001.11:g.210362857G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu33Asp	missense variant	-	NC_000001.11:g.210362859A>T	NCI-TCGA
NCI-TCGA novel	p.Glu33Ter	stop gained	-	NC_000001.11:g.210362857G>T	NCI-TCGA
NCI-TCGA novel	p.Glu33Gln	missense variant	-	NC_000001.11:g.210362857G>C	NCI-TCGA
rs1217467814	p.Glu34Lys	missense variant	-	NC_000001.11:g.210362860G>A	gnomAD
rs1241555812	p.Asp37Glu	missense variant	-	NC_000001.11:g.210362871C>A	gnomAD
NCI-TCGA novel	p.Gln38Pro	missense variant	-	NC_000001.11:g.210362873A>C	NCI-TCGA
rs1485201545	p.Glu39Lys	missense variant	-	NC_000001.11:g.210362875G>A	gnomAD
rs144245212	p.Phe40Leu	missense variant	-	NC_000001.11:g.210362880T>A	ESP,TOPMed
rs1426396610	p.Leu42Pro	missense variant	-	NC_000001.11:g.210362885T>C	gnomAD
rs757329992	p.Thr46Ala	missense variant	-	NC_000001.11:g.210362896A>G	ExAC,TOPMed,gnomAD
rs1251088486	p.Thr46Ser	missense variant	-	NC_000001.11:g.210362897C>G	TOPMed
rs201701816	p.Phe48Ser	missense variant	-	NC_000001.11:g.210362903T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201701816	p.Phe48Cys	missense variant	-	NC_000001.11:g.210362903T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201701816	p.Phe48Tyr	missense variant	-	NC_000001.11:g.210362903T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141591165	p.Gly49Arg	missense variant	-	NC_000001.11:g.210362905G>A	ESP,ExAC,TOPMed,gnomAD
rs756643679	p.Gly50Ter	stop gained	-	NC_000001.11:g.210362908G>T	ExAC,gnomAD
rs756643679	p.Gly50Arg	missense variant	-	NC_000001.11:g.210362908G>A	ExAC,gnomAD
NCI-TCGA novel	p.Lys52Asn	missense variant	-	NC_000001.11:g.210362916G>T	NCI-TCGA
rs1438602469	p.Lys53Glu	missense variant	-	NC_000001.11:g.210362917A>G	gnomAD
rs746548984	p.Asp54Val	missense variant	-	NC_000001.11:g.210387469A>T	ExAC,gnomAD
rs777471907	p.Asp54Asn	missense variant	-	NC_000001.11:g.210387468G>A	ExAC,gnomAD
rs139380328	p.Ala55Val	missense variant	-	NC_000001.11:g.210387472C>T	ESP,ExAC,TOPMed,gnomAD
rs867091715	p.Thr56Asn	missense variant	-	NC_000001.11:g.210387475C>A	TOPMed
rs1172717093	p.Asp57Asn	missense variant	-	NC_000001.11:g.210387477G>A	gnomAD
rs762065926	p.Trp60Ter	stop gained	-	NC_000001.11:g.210387487G>A	ExAC,gnomAD
rs1326549428	p.Trp60Arg	missense variant	-	NC_000001.11:g.210387486T>C	gnomAD
rs558364465	p.Phe62Ile	missense variant	-	NC_000001.11:g.210387492T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs773260603	p.Met64Val	missense variant	-	NC_000001.11:g.210387498A>G	ExAC,TOPMed,gnomAD
rs760841342	p.Glu65Lys	missense variant	-	NC_000001.11:g.210387501G>A	ExAC,TOPMed,gnomAD
rs1280659233	p.Trp66Ter	stop gained	-	NC_000001.11:g.210387505G>A	gnomAD
rs1195612827	p.Gln69Ter	stop gained	-	NC_000001.11:g.210387513C>T	gnomAD
rs754382840	p.Gln69Arg	missense variant	-	NC_000001.11:g.210387514A>G	ExAC
rs78052077	p.Val72Gly	missense variant	-	NC_000001.11:g.210387523T>G	ExAC,TOPMed,gnomAD
rs1188728045	p.Val72Leu	missense variant	-	NC_000001.11:g.210387522G>T	TOPMed
rs78052077	p.Val72Glu	missense variant	-	NC_000001.11:g.210387523T>A	ExAC,TOPMed,gnomAD
rs753087963	p.Trp73Gly	missense variant	-	NC_000001.11:g.210387525T>G	ExAC,gnomAD
rs758785739	p.Trp73Cys	missense variant	-	NC_000001.11:g.210387527G>T	ExAC
rs1473937850	p.Leu74Val	missense variant	-	NC_000001.11:g.210387528C>G	gnomAD
rs777596666	p.Leu75Phe	missense variant	-	NC_000001.11:g.210387531C>T	ExAC,gnomAD
rs746572782	p.Met79Thr	missense variant	-	NC_000001.11:g.210387544T>C	ExAC,gnomAD
rs1373594134	p.Met79Ile	missense variant	-	NC_000001.11:g.210387545G>A	gnomAD
rs1475019815	p.Val80Ile	missense variant	-	NC_000001.11:g.210387546G>A	gnomAD
rs1165981815	p.Val81Met	missense variant	-	NC_000001.11:g.210387549G>A	gnomAD
rs756801763	p.Val81Glu	missense variant	-	NC_000001.11:g.210387550T>A	ExAC,gnomAD
rs192652993	p.Thr86Pro	missense variant	-	NC_000001.11:g.210387564A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs769691809	p.Arg90Gly	missense variant	-	NC_000001.11:g.210387576A>G	ExAC,gnomAD
NCI-TCGA novel	p.Arg90Ile	missense variant	-	NC_000001.11:g.210387577G>T	NCI-TCGA
NCI-TCGA novel	p.Lys91Glu	missense variant	-	NC_000001.11:g.210387579A>G	NCI-TCGA
rs1169086872	p.His92Arg	missense variant	-	NC_000001.11:g.210400469A>G	gnomAD
rs774003816	p.Pro94Arg	missense variant	-	NC_000001.11:g.210400475C>G	ExAC,TOPMed,gnomAD
rs774003816	p.Pro94His	missense variant	-	NC_000001.11:g.210400475C>A	ExAC,TOPMed,gnomAD
rs1269395595	p.Ile96Ser	missense variant	-	NC_000001.11:g.210400481T>G	gnomAD
rs1192812979	p.Tyr100Cys	missense variant	-	NC_000001.11:g.210400493A>G	TOPMed,gnomAD
rs776861325	p.Gly101Arg	missense variant	-	NC_000001.11:g.210400495G>A	ExAC,gnomAD
rs769924809	p.Met102Leu	missense variant	-	NC_000001.11:g.210400498A>T	ExAC,TOPMed,gnomAD
rs1335123292	p.Met102Thr	missense variant	-	NC_000001.11:g.210400499T>C	TOPMed
rs1364527782	p.Cys105Tyr	missense variant	-	NC_000001.11:g.210400508G>A	gnomAD
rs1453153427	p.Trp106Cys	missense variant	-	NC_000001.11:g.210400512G>T	gnomAD
rs1156840610	p.Cys107Phe	missense variant	-	NC_000001.11:g.210400514G>T	gnomAD
rs763536701	p.Val108Leu	missense variant	-	NC_000001.11:g.210400516G>T	ExAC,gnomAD
rs1307835291	p.Gly110Arg	missense variant	-	NC_000001.11:g.210400522G>A	gnomAD
rs751842969	p.Thr111Asn	missense variant	-	NC_000001.11:g.210400526C>A	ExAC,TOPMed,gnomAD
rs145455128	p.Pro112Leu	missense variant	-	NC_000001.11:g.210400529C>T	ESP,ExAC,TOPMed,gnomAD
rs1046862949	p.Ala115Asp	missense variant	-	NC_000001.11:g.210400538C>A	TOPMed,gnomAD
rs199828596	p.Met116Val	missense variant	-	NC_000001.11:g.210400540A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1231178551	p.His120Tyr	missense variant	-	NC_000001.11:g.210400552C>T	gnomAD
rs941269680	p.Thr122Ala	missense variant	-	NC_000001.11:g.210400558A>G	TOPMed
rs1212970048	p.Thr122Ile	missense variant	-	NC_000001.11:g.210400559C>T	TOPMed,gnomAD
rs1271102309	p.Ser124Phe	missense variant	-	NC_000001.11:g.210400565C>T	gnomAD
rs1271102309	p.Ser124Cys	missense variant	-	NC_000001.11:g.210400565C>G	gnomAD
rs1040066135	p.Phe125Leu	missense variant	-	NC_000001.11:g.210400569C>A	TOPMed,gnomAD
rs1040066135	p.Phe125Leu	missense variant	-	NC_000001.11:g.210400569C>G	TOPMed,gnomAD
rs753831505	p.Cys126Gly	missense variant	-	NC_000001.11:g.210400570T>G	ExAC,gnomAD
rs375839407	p.Val127Met	missense variant	-	NC_000001.11:g.210400573G>A	ESP,ExAC,TOPMed,gnomAD
rs1475853230	p.Ala128Thr	missense variant	-	NC_000001.11:g.210400576G>A	gnomAD
rs545915563	p.Gln129His	missense variant	-	NC_000001.11:g.210400581G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs141306397	p.Gln129Arg	missense variant	-	NC_000001.11:g.210400580A>G	ESP,ExAC,TOPMed,gnomAD
rs746026575	p.Phe130Leu	missense variant	-	NC_000001.11:g.210400584C>G	ExAC,gnomAD
rs781566798	p.Phe130Cys	missense variant	-	NC_000001.11:g.210400583T>G	ExAC,TOPMed,gnomAD
rs370012146	p.Arg131Pro	missense variant	-	NC_000001.11:g.210400586G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370012146	p.Arg131Gln	missense variant	-	NC_000001.11:g.210400586G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138752308	p.Arg131Trp	missense variant	-	NC_000001.11:g.210400585C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1440623661	p.Gln133Ter	stop gained	-	NC_000001.11:g.210400591C>T	TOPMed
NCI-TCGA novel	p.Gln133Glu	missense variant	-	NC_000001.11:g.210400591C>G	NCI-TCGA
rs769025548	p.Thr136Ala	missense variant	-	NC_000001.11:g.210400600A>G	ExAC,gnomAD
rs376054556	p.Thr136Lys	missense variant	-	NC_000001.11:g.210400601C>A	ExAC,TOPMed,gnomAD
rs376054556	p.Thr136Met	missense variant	-	NC_000001.11:g.210400601C>T	ExAC,TOPMed,gnomAD
rs767857766	p.Trp137Cys	missense variant	-	NC_000001.11:g.210400605G>C	ExAC,gnomAD
rs750090558	p.Cys139Arg	missense variant	-	NC_000001.11:g.210400609T>C	ExAC,gnomAD
rs760308081	p.Ser140Cys	missense variant	-	NC_000001.11:g.210400613C>G	ExAC,gnomAD
rs200772379	p.Thr146Ile	missense variant	-	NC_000001.11:g.210400631C>T	TOPMed
rs765941795	p.Thr146Ala	missense variant	-	NC_000001.11:g.210400630A>G	ExAC,gnomAD
rs374495612	p.Gly151Ser	missense variant	-	NC_000001.11:g.210400645G>A	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Gly151Val	missense variant	-	NC_000001.11:g.210400646G>T	NCI-TCGA
rs753322887	p.Glu153Lys	missense variant	-	NC_000001.11:g.210400651G>A	ExAC,gnomAD
COSM425226	p.Glu154Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.210400655A>C	NCI-TCGA Cosmic
rs754462235	p.Val155Ile	missense variant	-	NC_000001.11:g.210400657G>A	ExAC,TOPMed,gnomAD
rs1055755703	p.Arg157Thr	missense variant	-	NC_000001.11:g.210404465G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Arg157Ile	missense variant	-	NC_000001.11:g.210404465G>T	NCI-TCGA
NCI-TCGA novel	p.Tyr160Asn	missense variant	-	NC_000001.11:g.210404473T>A	NCI-TCGA
rs764017113	p.Lys161Gln	missense variant	-	NC_000001.11:g.210404476A>C	ExAC,TOPMed,gnomAD
rs748514239	p.Asn164Asp	missense variant	-	NC_000001.11:g.210404485A>G	ExAC,TOPMed,gnomAD
rs374048677	p.Glu165Lys	missense variant	-	NC_000001.11:g.210404488G>A	ESP,ExAC,gnomAD
rs139483274	p.Thr172Met	missense variant	-	NC_000001.11:g.210404510C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr172Ala	missense variant	-	NC_000001.11:g.210404509A>G	NCI-TCGA
rs924597283	p.Leu173Met	missense variant	-	NC_000001.11:g.210404512C>A	-
rs747405504	p.Thr174Ile	missense variant	-	NC_000001.11:g.210404516C>T	ExAC,gnomAD
rs1365991028	p.Thr174Ser	missense variant	-	NC_000001.11:g.210404515A>T	gnomAD
rs776159715	p.Val175Ile	missense variant	-	NC_000001.11:g.210404518G>A	ExAC,gnomAD
rs145435771	p.Arg176His	missense variant	-	NC_000001.11:g.210404522G>A	ESP,ExAC,TOPMed,gnomAD
rs567439002	p.Arg176Cys	missense variant	-	NC_000001.11:g.210404521C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs145435771	p.Arg176Leu	missense variant	-	NC_000001.11:g.210404522G>T	ESP,ExAC,TOPMed,gnomAD
rs775030191	p.Cys177Tyr	missense variant	-	NC_000001.11:g.210404525G>A	ExAC,gnomAD
rs1374615080	p.Leu178Val	missense variant	-	NC_000001.11:g.210404527C>G	TOPMed
rs535833711	p.Tyr179Cys	missense variant	-	NC_000001.11:g.210404531A>G	1000Genomes,ExAC,gnomAD
rs765901690	p.Thr181Asn	missense variant	-	NC_000001.11:g.210404537C>A	TOPMed,gnomAD
rs765901690	p.Thr181Ile	missense variant	-	NC_000001.11:g.210404537C>T	TOPMed,gnomAD
rs2294851	p.Ser182Asn	missense variant	-	NC_000001.11:g.210404540G>A	UniProt,dbSNP
VAR_024743	p.Ser182Asn	missense variant	-	NC_000001.11:g.210404540G>A	UniProt
rs2294851	p.Ser182Asn	missense variant	-	NC_000001.11:g.210404540G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1206506032	p.Ser184Ile	missense variant	-	NC_000001.11:g.210404546G>T	gnomAD
rs755225544	p.Leu185Val	missense variant	-	NC_000001.11:g.210404548C>G	ExAC,gnomAD
rs34228541	p.Cys188Arg	missense variant	-	NC_000001.11:g.210404557T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Cys188Tyr	missense variant	-	NC_000001.11:g.210404558G>A	NCI-TCGA
rs955610159	p.Leu192Pro	missense variant	-	NC_000001.11:g.210404570T>C	TOPMed
rs758432747	p.Pro193Arg	missense variant	-	NC_000001.11:g.210404573C>G	ExAC,TOPMed,gnomAD
rs758432747	p.Pro193Leu	missense variant	-	NC_000001.11:g.210404573C>T	ExAC,TOPMed,gnomAD
rs376601925	p.Ser196Leu	missense variant	-	NC_000001.11:g.210404582C>T	ESP,TOPMed,gnomAD
rs1327760185	p.Thr197Pro	missense variant	-	NC_000001.11:g.210404584A>C	gnomAD
NCI-TCGA novel	p.Ser198Phe	missense variant	-	NC_000001.11:g.210404588C>T	NCI-TCGA
rs747455697	p.Tyr199Cys	missense variant	-	NC_000001.11:g.210404591A>G	ExAC,gnomAD
rs771340497	p.Ser200Pro	missense variant	-	NC_000001.11:g.210404593T>C	ExAC,TOPMed,gnomAD
rs781614202	p.Ser200Phe	missense variant	-	NC_000001.11:g.210404594C>T	ExAC,gnomAD
rs1219742764	p.Pro202Ser	missense variant	-	NC_000001.11:g.210404599C>T	gnomAD
rs1234274214	p.Ala206Thr	missense variant	-	NC_000001.11:g.210404611G>A	TOPMed,gnomAD
rs1176162825	p.Tyr207Cys	missense variant	-	NC_000001.11:g.210404615A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Val208Ala	missense variant	-	NC_000001.11:g.210404618T>C	NCI-TCGA
rs769462211	p.Phe209Tyr	missense variant	-	NC_000001.11:g.210404621T>A	ExAC,TOPMed,gnomAD
rs1393561796	p.Phe209Leu	missense variant	-	NC_000001.11:g.210404622T>G	gnomAD
rs774960950	p.Tyr210Ser	missense variant	-	NC_000001.11:g.210404624A>C	ExAC,TOPMed,gnomAD
rs774960950	p.Tyr210Cys	missense variant	-	NC_000001.11:g.210404624A>G	ExAC,TOPMed,gnomAD
rs1459691356	p.Tyr210His	missense variant	-	NC_000001.11:g.210404623T>C	gnomAD
rs1165960690	p.Tyr211His	missense variant	-	NC_000001.11:g.210404626T>C	gnomAD
rs768217049	p.Pro212Leu	missense variant	-	NC_000001.11:g.210404630C>T	ExAC,gnomAD
COSM903415	p.Leu214Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.210404636T>G	NCI-TCGA Cosmic
rs1443167558	p.His215Arg	missense variant	-	NC_000001.11:g.210404639A>G	gnomAD
rs1048728289	p.Asn216Ser	missense variant	-	NC_000001.11:g.210404642A>G	TOPMed,gnomAD
COSM1470128	p.Asn216Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.210404642A>C	NCI-TCGA Cosmic
COSM4027818	p.Pro218His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.210404648C>A	NCI-TCGA Cosmic
rs147320835	p.Phe222Leu	missense variant	-	NC_000001.11:g.210404659T>C	ESP,ExAC,TOPMed,gnomAD
rs767486877	p.Ser223Leu	missense variant	-	NC_000001.11:g.210404663C>T	ExAC,gnomAD
rs965938188	p.Glu224Asp	missense variant	-	NC_000001.11:g.210404667G>C	gnomAD
rs750203730	p.Phe225Val	missense variant	-	NC_000001.11:g.210404668T>G	ExAC,gnomAD
COSM5095059	p.Ile226Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.210404673C>G	NCI-TCGA Cosmic
rs1328074882	p.Lys227Arg	missense variant	-	NC_000001.11:g.210404675A>G	TOPMed
rs1203362333	p.Gln228Arg	missense variant	-	NC_000001.11:g.210404678A>G	gnomAD
rs1394872962	p.Met229Leu	missense variant	-	NC_000001.11:g.210418154A>T	TOPMed,gnomAD
rs778617403	p.Gln231Pro	missense variant	-	NC_000001.11:g.210418161A>C	ExAC,gnomAD
rs749015922	p.Gln231Glu	missense variant	-	NC_000001.11:g.210418160C>G	ExAC,TOPMed,gnomAD
rs749015922	p.Gln231Ter	stop gained	-	NC_000001.11:g.210418160C>T	ExAC,TOPMed,gnomAD
rs749015922	p.Gln231Lys	missense variant	-	NC_000001.11:g.210418160C>A	ExAC,TOPMed,gnomAD
rs1231520076	p.His234Tyr	missense variant	-	NC_000001.11:g.210418169C>T	TOPMed
rs771415014	p.Asp235Asn	missense variant	-	NC_000001.11:g.210418172G>A	ExAC
rs773212620	p.Ser236Phe	missense variant	-	NC_000001.11:g.210418176C>T	ExAC,gnomAD
rs746907598	p.Leu237Met	missense variant	-	NC_000001.11:g.210418178C>A	ExAC,TOPMed,gnomAD
rs376960795	p.Leu241Gln	missense variant	-	NC_000001.11:g.210418191T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs374579980	p.Cys242Tyr	missense variant	-	NC_000001.11:g.210418194G>A	ESP,ExAC,gnomAD
rs200438732	p.Cys242Gly	missense variant	-	NC_000001.11:g.210418193T>G	ESP,ExAC,TOPMed,gnomAD
rs200438732	p.Cys242Arg	missense variant	-	NC_000001.11:g.210418193T>C	ESP,ExAC,TOPMed,gnomAD
rs1284891579	p.Val243Ala	missense variant	-	NC_000001.11:g.210418197T>C	gnomAD
rs764319347	p.Ala245Asp	missense variant	-	NC_000001.11:g.210418203C>A	ExAC,gnomAD
rs764319347	p.Ala245Gly	missense variant	-	NC_000001.11:g.210418203C>G	ExAC,gnomAD
rs764319347	p.Ala245Val	missense variant	-	NC_000001.11:g.210418203C>T	ExAC,gnomAD
rs767440738	p.Gly247Arg	missense variant	-	NC_000001.11:g.210418208G>A	ExAC,gnomAD
rs368531187	p.Gly249Ser	missense variant	-	NC_000001.11:g.210418214G>A	ESP,TOPMed
rs148639278	p.Arg250Pro	missense variant	-	NC_000001.11:g.210418218G>C	ESP,ExAC,TOPMed,gnomAD
rs766891856	p.Arg250Cys	missense variant	-	NC_000001.11:g.210418217C>T	ExAC,TOPMed,gnomAD
rs148639278	p.Arg250His	missense variant	-	NC_000001.11:g.210418218G>A	ESP,ExAC,TOPMed,gnomAD
rs987044311	p.Trp254Ter	stop gained	-	NC_000001.11:g.210418231G>A	TOPMed
rs778740258	p.Trp254Ser	missense variant	-	NC_000001.11:g.210418230G>C	ExAC,TOPMed,gnomAD
rs1021644358	p.Trp255Leu	missense variant	-	NC_000001.11:g.210418233G>T	gnomAD
rs1021644358	p.Trp255Ter	stop gained	-	NC_000001.11:g.210418233G>A	gnomAD
rs372024732	p.Trp256Ter	stop gained	-	NC_000001.11:g.210418237G>A	ESP,gnomAD
rs757984265	p.Ala258Val	missense variant	-	NC_000001.11:g.210418242C>T	ExAC,gnomAD
rs747743664	p.Ala258Thr	missense variant	-	NC_000001.11:g.210418241G>A	ExAC,gnomAD
rs770748303	p.Glu259Lys	missense variant	-	NC_000001.11:g.210418244G>A	ExAC,gnomAD
rs576213719	p.His263Gln	missense variant	-	NC_000001.11:g.210418258C>A	1000Genomes,ExAC,gnomAD
rs769514962	p.Leu264Pro	missense variant	-	NC_000001.11:g.210418260T>C	ExAC,TOPMed,gnomAD
rs745691529	p.Leu264Met	missense variant	-	NC_000001.11:g.210418259C>A	ExAC,TOPMed,gnomAD
rs375086953	p.Met265Val	missense variant	-	NC_000001.11:g.210418262A>G	ESP,ExAC,TOPMed,gnomAD
rs543648313	p.Tyr266Asp	missense variant	-	NC_000001.11:g.210418265T>G	1000Genomes,ExAC,gnomAD
rs543648313	p.Tyr266Asn	missense variant	-	NC_000001.11:g.210418265T>A	1000Genomes,ExAC,gnomAD
rs767706148	p.Met267Ile	missense variant	-	NC_000001.11:g.210418270G>T	ExAC,gnomAD
rs1274887070	p.Ile270Phe	missense variant	-	NC_000001.11:g.210418277A>T	gnomAD
rs1468755372	p.Tyr271Cys	missense variant	-	NC_000001.11:g.210418281A>G	TOPMed,gnomAD
COSM4939402	p.Ser272Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.210418283A>T	NCI-TCGA Cosmic
rs1408361995	p.Ser273Asn	missense variant	-	NC_000001.11:g.210418287G>A	gnomAD
rs761293868	p.Leu276Ile	missense variant	-	NC_000001.11:g.210418295C>A	ExAC,gnomAD
rs761293868	p.Leu276Val	missense variant	-	NC_000001.11:g.210418295C>G	ExAC,gnomAD
rs561841936	p.Glu278Asp	missense variant	-	NC_000001.11:g.210418303G>T	1000Genomes,ExAC,gnomAD
rs754359000	p.Cys282Ser	missense variant	-	NC_000001.11:g.210418314G>C	ExAC,TOPMed,gnomAD
rs754359000	p.Cys282Phe	missense variant	-	NC_000001.11:g.210418314G>T	ExAC,TOPMed,gnomAD
rs1310390993	p.Gly287Ter	stop gained	-	NC_000001.11:g.210464507G>T	gnomAD
rs1173716957	p.Gly287Val	missense variant	-	NC_000001.11:g.210464508G>T	TOPMed
NCI-TCGA novel	p.Gly287Ala	missense variant	-	NC_000001.11:g.210464508G>C	NCI-TCGA
rs1435982918	p.Leu288Val	missense variant	-	NC_000001.11:g.210464510C>G	TOPMed
rs192286679	p.Ala289Val	missense variant	-	NC_000001.11:g.210464514C>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM4027822	p.Ala291Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.210464519G>A	NCI-TCGA Cosmic
rs1475643148	p.Gln292Arg	missense variant	-	NC_000001.11:g.210464523A>G	TOPMed
rs1243613343	p.Val293Glu	missense variant	-	NC_000001.11:g.210464526T>A	TOPMed
rs1018558976	p.Phe295Ser	missense variant	-	NC_000001.11:g.210464532T>C	TOPMed
rs1341668706	p.Phe296Leu	missense variant	-	NC_000001.11:g.210464536C>G	gnomAD
rs1487919886	p.Tyr297Cys	missense variant	-	NC_000001.11:g.210464538A>G	TOPMed
rs967141075	p.Val298Met	missense variant	-	NC_000001.11:g.210464540G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Val298Leu	missense variant	-	NC_000001.11:g.210464540G>T	NCI-TCGA
rs144173927	p.Lys299Gln	missense variant	-	NC_000001.11:g.210464543A>C	ESP,ExAC,TOPMed,gnomAD
rs1181785857	p.Lys299Thr	missense variant	-	NC_000001.11:g.210464544A>C	gnomAD
rs756776629	p.Tyr300His	missense variant	-	NC_000001.11:g.210464546T>C	ExAC,gnomAD
rs541167454	p.Tyr300Cys	missense variant	-	NC_000001.11:g.210464547A>G	TOPMed
COSM6061432	p.Tyr300Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.210464547A>T	NCI-TCGA Cosmic
rs780669166	p.Val302Ala	missense variant	-	NC_000001.11:g.210464553T>C	ExAC,TOPMed
NCI-TCGA novel	p.Val302GlyPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.210464553T>-	NCI-TCGA
rs1389201461	p.Leu303Phe	missense variant	-	NC_000001.11:g.210464555C>T	gnomAD
rs779948186	p.Val306Met	missense variant	-	NC_000001.11:g.210464564G>A	ExAC,TOPMed,gnomAD
rs779948186	p.Val306Leu	missense variant	-	NC_000001.11:g.210464564G>T	ExAC,TOPMed,gnomAD
rs749060244	p.Pro307Leu	missense variant	-	NC_000001.11:g.210464568C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala308Val	missense variant	-	NC_000001.11:g.210464571C>T	NCI-TCGA
NCI-TCGA novel	p.Leu309Val	missense variant	-	NC_000001.11:g.210464573C>G	NCI-TCGA
rs1296554350	p.Leu310Pro	missense variant	-	NC_000001.11:g.210464577T>C	gnomAD
rs200901586	p.Met311Thr	missense variant	-	NC_000001.11:g.210464580T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs777865030	p.Arg312Cys	missense variant	-	NC_000001.11:g.210464582C>T	ExAC,TOPMed,gnomAD
rs34362403	p.Arg312His	missense variant	-	NC_000001.11:g.210464583G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777865030	p.Arg312Ser	missense variant	-	NC_000001.11:g.210464582C>A	ExAC,TOPMed,gnomAD
rs1463422784	p.Asp314Asn	missense variant	-	NC_000001.11:g.210464588G>A	gnomAD
rs1209434701	p.Asp314Glu	missense variant	-	NC_000001.11:g.210464590T>A	TOPMed,gnomAD
NCI-TCGA novel	p.Leu316Phe	missense variant	-	NC_000001.11:g.210464594C>T	NCI-TCGA
rs1254789301	p.Thr317Ala	missense variant	-	NC_000001.11:g.210464597A>G	TOPMed,gnomAD
rs771201072	p.Thr317Ile	missense variant	-	NC_000001.11:g.210464598C>T	ExAC,TOPMed,gnomAD
rs1026211141	p.Pro318Leu	missense variant	-	NC_000001.11:g.210464601C>T	TOPMed
COSM3483009	p.Pro318Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.210464600C>T	NCI-TCGA Cosmic
rs770442814	p.Pro319Ser	missense variant	-	NC_000001.11:g.210464603C>T	ExAC,gnomAD
rs143700139	p.Ala320Thr	missense variant	-	NC_000001.11:g.210464606G>A	ESP,ExAC,TOPMed,gnomAD
rs143700139	p.Ala320Ser	missense variant	-	NC_000001.11:g.210464606G>T	ESP,ExAC,TOPMed,gnomAD
rs143700139	p.Ala320Pro	missense variant	-	NC_000001.11:g.210464606G>C	ESP,ExAC,TOPMed,gnomAD
rs534915659	p.Leu321Phe	missense variant	-	NC_000001.11:g.210464609C>T	1000Genomes,ExAC,gnomAD
rs773936014	p.Pro322Ser	missense variant	-	NC_000001.11:g.210464612C>T	ExAC,TOPMed,gnomAD
rs761454249	p.Pro322Leu	missense variant	-	NC_000001.11:g.210464613C>T	ExAC,TOPMed,gnomAD
rs146916002	p.Arg323Ser	missense variant	-	NC_000001.11:g.210464615C>A	ESP,ExAC,TOPMed,gnomAD
rs146916002	p.Arg323Cys	missense variant	-	NC_000001.11:g.210464615C>T	ESP,ExAC,TOPMed,gnomAD
rs749916241	p.Arg323His	missense variant	-	NC_000001.11:g.210464616G>A	ExAC,TOPMed,gnomAD
COSM903418	p.Arg323Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.210464616G>T	NCI-TCGA Cosmic
rs766259679	p.Val325Met	missense variant	-	NC_000001.11:g.210464621G>A	ExAC,TOPMed,gnomAD
rs1310979158	p.Ser326Asn	missense variant	-	NC_000001.11:g.210464625G>A	gnomAD
rs1305915605	p.Ser326Arg	missense variant	-	NC_000001.11:g.210464624A>C	gnomAD
rs753743106	p.Thr327Ala	missense variant	-	NC_000001.11:g.210464627A>G	ExAC,gnomAD
rs369156629	p.Met328Ile	missense variant	-	NC_000001.11:g.210464632G>A	ESP,ExAC,TOPMed,gnomAD
rs1319305222	p.Ser330Gly	missense variant	-	NC_000001.11:g.210464636A>G	gnomAD
rs778762203	p.Ser330Asn	missense variant	-	NC_000001.11:g.210464637G>A	ExAC,TOPMed,gnomAD
rs778762203	p.Ser330Thr	missense variant	-	NC_000001.11:g.210464637G>C	ExAC,TOPMed,gnomAD
rs1267974210	p.Thr332Ile	missense variant	-	NC_000001.11:g.210464643C>T	gnomAD
rs61744143	p.Gly333Arg	missense variant	-	NC_000001.11:g.210464645G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1477472411	p.Met334Val	missense variant	-	NC_000001.11:g.210464648A>G	TOPMed,gnomAD
rs1477472411	p.Met334Leu	missense variant	-	NC_000001.11:g.210464648A>T	TOPMed,gnomAD
rs1418277029	p.Met334Lys	missense variant	-	NC_000001.11:g.210464649T>A	TOPMed
NCI-TCGA novel	p.Met334Ile	missense variant	-	NC_000001.11:g.210464650G>A	NCI-TCGA
rs774794788	p.Arg336Ser	missense variant	-	NC_000001.11:g.210513153G>T	ExAC,gnomAD
rs1480552168	p.Tyr337His	missense variant	-	NC_000001.11:g.210513154T>C	TOPMed
rs1486645557	p.Asp339Glu	missense variant	-	NC_000001.11:g.210513162T>A	gnomAD
rs748544351	p.Val340Ile	missense variant	-	NC_000001.11:g.210513163G>A	ExAC,gnomAD
rs1236766012	p.Val340Ala	missense variant	-	NC_000001.11:g.210513164T>C	gnomAD
rs1471698324	p.His343Tyr	missense variant	-	NC_000001.11:g.210513172C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Asn344His	missense variant	-	NC_000001.11:g.210513175A>C	NCI-TCGA
rs1430616111	p.Arg348Thr	missense variant	-	NC_000001.11:g.210513188G>C	gnomAD
rs1229863213	p.Arg348Ser	missense variant	-	NC_000001.11:g.210587898G>C	TOPMed
rs1229863213	p.Arg348Ser	missense variant	-	NC_000001.11:g.210587898G>T	TOPMed
COSM74896	p.Arg348Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.210513188G>A	NCI-TCGA Cosmic
COSM4027829	p.Tyr349Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.210587901T>G	NCI-TCGA Cosmic
rs529893253	p.Val350Glu	missense variant	-	NC_000001.11:g.210587903T>A	1000Genomes,ExAC,gnomAD
rs1413244904	p.Tyr351Cys	missense variant	-	NC_000001.11:g.210587906A>G	gnomAD
rs778078227	p.Ile352Leu	missense variant	-	NC_000001.11:g.210587908A>C	ExAC,gnomAD
rs778078227	p.Ile352Val	missense variant	-	NC_000001.11:g.210587908A>G	ExAC,gnomAD
rs746687297	p.Pro353Ser	missense variant	-	NC_000001.11:g.210587911C>T	ExAC,gnomAD
rs768820197	p.Gly355Ser	missense variant	-	NC_000001.11:g.210587917G>A	TOPMed,gnomAD
rs776106560	p.Gly356Arg	missense variant	-	NC_000001.11:g.210587920G>A	ExAC,TOPMed,gnomAD
rs1336939401	p.Ser357Cys	missense variant	-	NC_000001.11:g.210587924C>G	TOPMed
rs1331461975	p.Gln358Arg	missense variant	-	NC_000001.11:g.210587927A>G	TOPMed
rs1390109673	p.His359Tyr	missense variant	-	NC_000001.11:g.210587929C>T	TOPMed
rs775624263	p.Leu361Met	missense variant	-	NC_000001.11:g.210587935C>A	ExAC,TOPMed,gnomAD
rs1189204348	p.Leu362Arg	missense variant	-	NC_000001.11:g.210587939T>G	gnomAD
COSM3483014	p.Gly363Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.210587941G>A	NCI-TCGA Cosmic
rs1472183131	p.Leu365Arg	missense variant	-	NC_000001.11:g.210587948T>G	TOPMed
rs1206534082	p.Leu365Val	missense variant	-	NC_000001.11:g.210587947C>G	TOPMed,gnomAD
rs150462339	p.Phe366Leu	missense variant	-	NC_000001.11:g.210587952T>A	ESP,ExAC,TOPMed,gnomAD
rs150462339	p.Phe366Leu	missense variant	-	NC_000001.11:g.210587952T>G	ESP,ExAC,TOPMed,gnomAD
rs761470224	p.Thr368Met	missense variant	-	NC_000001.11:g.210587957C>T	ExAC,TOPMed,gnomAD
rs1250855428	p.Ala369Thr	missense variant	-	NC_000001.11:g.210587959G>A	TOPMed
rs753942041	p.Ala369Val	missense variant	-	NC_000001.11:g.210587960C>T	ExAC,TOPMed,gnomAD
rs753271439	p.Met370Val	missense variant	-	NC_000001.11:g.210587962A>G	ExAC,gnomAD
rs753271439	p.Met370Leu	missense variant	-	NC_000001.11:g.210587962A>T	ExAC,gnomAD
rs761768543	p.Met370Ile	missense variant	-	NC_000001.11:g.210587964G>A	ExAC,gnomAD
rs149597734	p.Thr371Ile	missense variant	-	NC_000001.11:g.210587966C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778202949	p.Thr371Ala	missense variant	-	NC_000001.11:g.210587965A>G	ExAC,gnomAD
NCI-TCGA novel	p.Thr371Ser	missense variant	-	NC_000001.11:g.210587965A>T	NCI-TCGA
rs771134636	p.Phe372Cys	missense variant	-	NC_000001.11:g.210587969T>G	ExAC,TOPMed,gnomAD
rs771134636	p.Phe372Ser	missense variant	-	NC_000001.11:g.210587969T>C	ExAC,TOPMed,gnomAD
rs771134636	p.Phe372Tyr	missense variant	-	NC_000001.11:g.210587969T>A	ExAC,TOPMed,gnomAD
rs780907560	p.Ala373Thr	missense variant	-	NC_000001.11:g.210587971G>A	ExAC,gnomAD
COSM4027831	p.Val375Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.210587978T>C	NCI-TCGA Cosmic
rs745491597	p.Tyr377Cys	missense variant	-	NC_000001.11:g.210587984A>G	ExAC,gnomAD
rs75379612	p.Trp378Gly	missense variant	-	NC_000001.11:g.210587986T>G	gnomAD
rs769492158	p.Trp378Cys	missense variant	-	NC_000001.11:g.210587988G>C	ExAC,gnomAD
rs1350371972	p.Trp378Ter	stop gained	-	NC_000001.11:g.210587987G>A	TOPMed
COSM903421	p.Trp378Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.210587988G>A	NCI-TCGA Cosmic
rs191150462	p.His379Tyr	missense variant	-	NC_000001.11:g.210587989C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1407130052	p.His379Arg	missense variant	-	NC_000001.11:g.210587990A>G	TOPMed
rs1319221366	p.Gly380Ser	missense variant	-	NC_000001.11:g.210587992G>A	gnomAD
rs755024350	p.Gly381Ser	missense variant	-	NC_000001.11:g.210587995G>A	NCI-TCGA
rs755024350	p.Gly381Ser	missense variant	-	NC_000001.11:g.210587995G>A	ExAC,TOPMed,gnomAD
rs1210658100	p.Tyr382His	missense variant	-	NC_000001.11:g.210587998T>C	gnomAD
rs537432647	p.Asp383Asn	missense variant	-	NC_000001.11:g.210588001G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1471597942	p.Asp383Glu	missense variant	-	NC_000001.11:g.210588003C>G	TOPMed
rs148696006	p.Asp383Ala	missense variant	-	NC_000001.11:g.210588002A>C	ESP,ExAC,TOPMed,gnomAD
rs148696006	p.Asp383Gly	missense variant	-	NC_000001.11:g.210588002A>G	ESP,ExAC,TOPMed,gnomAD
rs1253211468	p.Leu385Phe	missense variant	-	NC_000001.11:g.210588007C>T	gnomAD
rs1472535776	p.Leu385Pro	missense variant	-	NC_000001.11:g.210588008T>C	gnomAD
rs776973400	p.Trp386Cys	missense variant	-	NC_000001.11:g.210588012G>T	ExAC,gnomAD
rs776973400	p.Trp386Cys	missense variant	-	NC_000001.11:g.210588012G>C	ExAC,gnomAD
rs1286369938	p.Cys387Gly	missense variant	-	NC_000001.11:g.210588013T>G	TOPMed,gnomAD
rs958275249	p.Cys387Tyr	missense variant	-	NC_000001.11:g.210588014G>A	TOPMed
COSM3483016	p.Cys387Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.210588013T>C	NCI-TCGA Cosmic
rs759676083	p.Trp388Ter	stop gained	-	NC_000001.11:g.210588018G>A	ExAC,gnomAD
rs765348085	p.Ala389Thr	missense variant	-	NC_000001.11:g.210588019G>A	ExAC,gnomAD
rs139134333	p.Ala390Glu	missense variant	-	NC_000001.11:g.210588023C>A	ESP,ExAC,TOPMed,gnomAD
rs139134333	p.Ala390Val	missense variant	-	NC_000001.11:g.210588023C>T	ESP,ExAC,TOPMed,gnomAD
rs1447758274	p.Leu391Pro	missense variant	-	NC_000001.11:g.210588026T>C	TOPMed
rs1308080230	p.Leu391Phe	missense variant	-	NC_000001.11:g.210588025C>T	gnomAD
rs145501609	p.Asn392Ser	missense variant	-	NC_000001.11:g.210588029A>G	ESP,ExAC,TOPMed,gnomAD
rs781404828	p.Asn392Lys	missense variant	-	NC_000001.11:g.210588030C>G	ExAC,gnomAD
rs745572125	p.Trp393Ter	stop gained	-	NC_000001.11:g.210588033G>A	ExAC,gnomAD
rs1041130066	p.Gly395Glu	missense variant	-	NC_000001.11:g.210588038G>A	TOPMed
NCI-TCGA novel	p.Gly395Arg	missense variant	-	NC_000001.11:g.210588037G>A	NCI-TCGA
rs1329136878	p.Val396Ile	missense variant	-	NC_000001.11:g.210588040G>A	TOPMed
rs201464164	p.Thr397Ala	missense variant	-	NC_000001.11:g.210588043A>G	ExAC,gnomAD
rs1354462659	p.Glu399Gly	missense variant	-	NC_000001.11:g.210588050A>G	TOPMed,gnomAD
rs528513055	p.Asn400Ser	missense variant	-	NC_000001.11:g.210588053A>G	TOPMed,gnomAD
rs528513055	p.Asn400Ile	missense variant	-	NC_000001.11:g.210588053A>T	TOPMed,gnomAD
rs1435366590	p.Gly401Arg	missense variant	-	NC_000001.11:g.210588055G>A	TOPMed
rs147691760	p.Val402Ala	missense variant	-	NC_000001.11:g.210588059T>C	ESP,gnomAD
rs368498838	p.Arg403Gln	missense variant	-	NC_000001.11:g.210588062G>A	ESP,ExAC,TOPMed,gnomAD
rs144274904	p.Arg403Trp	missense variant	-	NC_000001.11:g.210588061C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM678760	p.Arg403Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.210588062G>C	NCI-TCGA Cosmic
rs1387194915	p.Val406Ala	missense variant	-	NC_000001.11:g.210588071T>C	TOPMed
rs772854695	p.Glu407Lys	missense variant	-	NC_000001.11:g.210588073G>A	ExAC,TOPMed,gnomAD
rs760410532	p.Thr408Ile	missense variant	-	NC_000001.11:g.210588077C>T	ExAC,gnomAD
rs765471482	p.Pro409Thr	missense variant	-	NC_000001.11:g.210588079C>A	ExAC,TOPMed,gnomAD
rs765471482	p.Pro409Ala	missense variant	-	NC_000001.11:g.210588079C>G	ExAC,TOPMed,gnomAD
COSM1501159	p.Pro409Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.210588080C>T	NCI-TCGA Cosmic
rs1190379715	p.Asp413Ala	missense variant	-	NC_000001.11:g.210588092A>C	TOPMed
rs572645178	p.Ser414Arg	missense variant	-	NC_000001.11:g.210588094A>C	1000Genomes,ExAC,gnomAD
rs1274596916	p.Ala416Thr	missense variant	-	NC_000001.11:g.210623526G>A	TOPMed
NCI-TCGA novel	p.Ala416Val	missense variant	-	NC_000001.11:g.210623527C>T	NCI-TCGA
rs372287242	p.Arg417Gln	missense variant	-	NC_000001.11:g.210623530G>A	ESP,ExAC,TOPMed,gnomAD
rs767942183	p.Arg417Ter	stop gained	-	NC_000001.11:g.210623529C>T	ExAC,TOPMed,gnomAD
rs761135455	p.Tyr418Ter	stop gained	-	NC_000001.11:g.210623534C>A	ExAC,gnomAD
rs1400124587	p.Ser420Thr	missense variant	-	NC_000001.11:g.210623538T>A	TOPMed
rs766841031	p.Pro421Leu	missense variant	-	NC_000001.11:g.210623542C>T	NCI-TCGA
rs766841031	p.Pro421Leu	missense variant	-	NC_000001.11:g.210623542C>T	ExAC,TOPMed,gnomAD
rs147869616	p.Gln422Arg	missense variant	-	NC_000001.11:g.210623545A>G	ESP,ExAC,TOPMed,gnomAD
rs752178549	p.Arg424His	missense variant	-	NC_000001.11:g.210623551G>A	NCI-TCGA
rs752178549	p.Arg424His	missense variant	-	NC_000001.11:g.210623551G>A	ExAC,TOPMed,gnomAD
rs778537110	p.Arg424Cys	missense variant	-	NC_000001.11:g.210623550C>T	ExAC,gnomAD
rs367896407	p.Arg425Cys	missense variant	-	NC_000001.11:g.210623553C>T	NCI-TCGA
rs367896407	p.Arg425Cys	missense variant	-	NC_000001.11:g.210623553C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777581246	p.Arg425His	missense variant	-	NC_000001.11:g.210623554G>A	ExAC,TOPMed,gnomAD
rs371790765	p.Arg426Gln	missense variant	-	NC_000001.11:g.210623557G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs371790765	p.Arg426Leu	missense variant	-	NC_000001.11:g.210623557G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM175069	p.Arg426Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.210623556C>T	NCI-TCGA Cosmic
rs770778775	p.Phe427Leu	missense variant	-	NC_000001.11:g.210623559T>C	ExAC,gnomAD
rs780932919	p.Phe427Leu	missense variant	-	NC_000001.11:g.210623561C>G	ExAC,gnomAD
rs780932919	p.Phe427Leu	missense variant	-	NC_000001.11:g.210623561C>A	ExAC,gnomAD
rs1267872556	p.His428Tyr	missense variant	-	NC_000001.11:g.210623562C>T	gnomAD
rs376491664	p.Ala429Thr	missense variant	-	NC_000001.11:g.210623565G>A	ESP,ExAC,TOPMed,gnomAD
rs376491664	p.Ala429Thr	missense variant	-	NC_000001.11:g.210623565G>A	NCI-TCGA
rs1020683342	p.Ala430Thr	missense variant	-	NC_000001.11:g.210623568G>A	TOPMed
rs1246866620	p.Ala430Val	missense variant	-	NC_000001.11:g.210623569C>T	gnomAD
rs772132903	p.Leu431Phe	missense variant	-	NC_000001.11:g.210623571C>T	ExAC,TOPMed,gnomAD
rs772132903	p.Leu431Val	missense variant	-	NC_000001.11:g.210623571C>G	ExAC,TOPMed,gnomAD
rs1327162202	p.Leu431Arg	missense variant	-	NC_000001.11:g.210623572T>G	gnomAD
rs1202168184	p.Ser433Cys	missense variant	-	NC_000001.11:g.210623578C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Ser433Phe	missense variant	-	NC_000001.11:g.210623578C>T	NCI-TCGA
COSM425229	p.Ser435Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.210623584C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser435Pro	missense variant	-	NC_000001.11:g.210623583T>C	NCI-TCGA
rs952228974	p.Thr436Ile	missense variant	-	NC_000001.11:g.210623587C>T	TOPMed,gnomAD
rs113371678	p.Ser437Leu	missense variant	-	NC_000001.11:g.210623590C>T	ExAC,TOPMed,gnomAD
rs113371678	p.Ser437Trp	missense variant	-	NC_000001.11:g.210623590C>G	ExAC,TOPMed,gnomAD
rs113371678	p.Ser437Leu	missense variant	-	NC_000001.11:g.210623590C>T	NCI-TCGA
rs202236243	p.Ile440Ser	missense variant	-	NC_000001.11:g.210623599T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs759902169	p.Asn443Ser	missense variant	-	NC_000001.11:g.210623608A>G	ExAC,gnomAD
rs764798520	p.Leu444Met	missense variant	-	NC_000001.11:g.210623610C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val445Leu	missense variant	-	NC_000001.11:g.210623613G>T	NCI-TCGA
rs761804644	p.Phe446Leu	missense variant	-	NC_000001.11:g.210623616T>C	ExAC,TOPMed,gnomAD
rs751537022	p.Leu447Pro	missense variant	-	NC_000001.11:g.210623620T>C	ExAC,TOPMed
NCI-TCGA novel	p.Leu447Ile	missense variant	-	NC_000001.11:g.210623619C>A	NCI-TCGA
rs1288194139	p.Gly448Arg	missense variant	-	NC_000001.11:g.210623622G>A	gnomAD
rs757163023	p.Gly448Glu	missense variant	-	NC_000001.11:g.210623623G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly448Val	missense variant	-	NC_000001.11:g.210623623G>T	NCI-TCGA
rs112551598	p.Gly449Asp	missense variant	-	NC_000001.11:g.210623626G>A	ESP,ExAC,TOPMed,gnomAD
rs1236467255	p.Asn450His	missense variant	-	NC_000001.11:g.210623628A>C	TOPMed
rs147954610	p.Asn450Ser	missense variant	-	NC_000001.11:g.210623629A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147954610	p.Asn450Ser	missense variant	-	NC_000001.11:g.210623629A>G	UniProt,dbSNP
VAR_024745	p.Asn450Ser	missense variant	-	NC_000001.11:g.210623629A>G	UniProt
rs544741245	p.Gly453Val	missense variant	-	NC_000001.11:g.210623638G>T	1000Genomes,ExAC,gnomAD
rs779017166	p.Gly453Arg	missense variant	-	NC_000001.11:g.210623637G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys454Glu	missense variant	-	NC_000001.11:g.210623640A>G	NCI-TCGA
rs1231046147	p.Thr455Ser	missense variant	-	NC_000001.11:g.210623644C>G	gnomAD
rs1181369040	p.Thr455Ala	missense variant	-	NC_000001.11:g.210623643A>G	gnomAD
rs772114026	p.Tyr456His	missense variant	-	NC_000001.11:g.210623646T>C	ExAC,gnomAD
rs773398217	p.Trp457Ter	stop gained	-	NC_000001.11:g.210623651G>A	ExAC,gnomAD
NCI-TCGA novel	p.Trp457Ter	stop gained	-	NC_000001.11:g.210623650G>A	NCI-TCGA
rs1414852061	p.Asn458Thr	missense variant	-	NC_000001.11:g.210623653A>C	gnomAD
rs1404967475	p.Arg459Gly	missense variant	-	NC_000001.11:g.210623655A>G	TOPMed,gnomAD
rs1161817788	p.Ile460Met	missense variant	-	NC_000001.11:g.210623660C>G	gnomAD
rs747570787	p.Phe461Val	missense variant	-	NC_000001.11:g.210623661T>G	ExAC,gnomAD
rs372765603	p.Ile462Val	missense variant	-	NC_000001.11:g.210623664A>G	ESP,ExAC,TOPMed,gnomAD
rs759828685	p.Gln463His	missense variant	-	NC_000001.11:g.210623669A>C	ExAC,gnomAD
rs759828685	p.Gln463His	missense variant	-	NC_000001.11:g.210623669A>C	NCI-TCGA
rs1473013625	p.Gly464Ala	missense variant	-	NC_000001.11:g.210674288G>C	gnomAD
rs765617712	p.Gly464Arg	missense variant	-	NC_000001.11:g.210623670G>C	ExAC,TOPMed,gnomAD
rs765617712	p.Gly464Ser	missense variant	-	NC_000001.11:g.210623670G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp465Ter	stop gained	-	NC_000001.11:g.210674292G>A	NCI-TCGA
rs1162782214	p.Pro466Ala	missense variant	-	NC_000001.11:g.210674293C>G	TOPMed,gnomAD
rs1162782214	p.Pro466Ser	missense variant	-	NC_000001.11:g.210674293C>T	TOPMed,gnomAD
rs766141146	p.Trp467Ter	stop gained	-	NC_000001.11:g.210674298G>A	ExAC,gnomAD
COSM4930079	p.Thr469Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.210674302A>T	NCI-TCGA Cosmic
rs1341787711	p.Ser471Pro	missense variant	-	NC_000001.11:g.210674308T>C	TOPMed
rs1389282522	p.Tyr479Cys	missense variant	-	NC_000001.11:g.210674333A>G	gnomAD
rs778151421	p.Ser480Phe	missense variant	-	NC_000001.11:g.210674336C>T	ExAC,gnomAD
rs200853402	p.Val482Met	missense variant	-	NC_000001.11:g.210674341G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1489287557	p.Ile484Val	missense variant	-	NC_000001.11:g.210674347A>G	gnomAD
rs781297562	p.Ile484Thr	missense variant	-	NC_000001.11:g.210674348T>C	ExAC,gnomAD
COSM6061426	p.Ala485Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.210674351C>T	NCI-TCGA Cosmic
rs145943928	p.Trp486Leu	missense variant	-	NC_000001.11:g.210674354G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs977412599	p.Ala487Thr	missense variant	-	NC_000001.11:g.210674356G>A	TOPMed
rs770356363	p.Thr489Asn	missense variant	-	NC_000001.11:g.210674363C>A	ExAC,gnomAD
rs770356363	p.Thr489Ile	missense variant	-	NC_000001.11:g.210674363C>T	ExAC,gnomAD
COSM1320510	p.Thr489Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.210674362A>T	NCI-TCGA Cosmic
rs1194243455	p.Ala491Val	missense variant	-	NC_000001.11:g.210674369C>T	gnomAD
rs749666736	p.Ala491Thr	missense variant	-	NC_000001.11:g.210674368G>A	ExAC,TOPMed,gnomAD
rs148466987	p.Thr492Met	missense variant	-	NC_000001.11:g.210674372C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200680141	p.Asp493Asn	missense variant	-	NC_000001.11:g.210674374G>A	ExAC,TOPMed,gnomAD
rs1258511865	p.Asp493Glu	missense variant	-	NC_000001.11:g.210674376C>G	TOPMed
rs750211206	p.Leu2Val	missense variant	-	CHR_HG1832_PATCH:g.210348979C>G	ExAC,gnomAD
rs779025178	p.Arg4Gly	missense variant	-	CHR_HG1832_PATCH:g.210348985C>G	ExAC,TOPMed,gnomAD
rs758421766	p.Arg4Gln	missense variant	-	CHR_HG1832_PATCH:g.210348986G>A	ExAC,gnomAD
rs779025178	p.Arg4Ter	stop gained	-	CHR_HG1832_PATCH:g.210348985C>T	ExAC,TOPMed,gnomAD
rs777897235	p.Trp5Arg	missense variant	-	CHR_HG1832_PATCH:g.210348988T>C	ExAC,TOPMed,gnomAD
rs747583836	p.Glu6Lys	missense variant	-	CHR_HG1832_PATCH:g.210348991G>A	ExAC,gnomAD
rs150162144	p.Ala8Thr	missense variant	-	CHR_HG1832_PATCH:g.210348997G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143903658	p.Leu9Ile	missense variant	-	CHR_HG1832_PATCH:g.210349000C>A	1000Genomes,ExAC,gnomAD
rs143903658	p.Leu9Phe	missense variant	-	CHR_HG1832_PATCH:g.210349000C>T	1000Genomes,ExAC,gnomAD
rs1321878496	p.Leu12Val	missense variant	-	CHR_HG1832_PATCH:g.210349009C>G	TOPMed,gnomAD
rs775006103	p.Ala13Val	missense variant	-	CHR_HG1832_PATCH:g.210349013C>T	ExAC,gnomAD
rs763566623	p.Phe17Val	missense variant	-	CHR_HG1832_PATCH:g.210349024T>G	ExAC,gnomAD
rs141741088	p.Phe17Leu	missense variant	-	CHR_HG1832_PATCH:g.210349026C>G	ESP,ExAC,TOPMed,gnomAD
rs761879800	p.Phe19Leu	missense variant	-	CHR_HG1832_PATCH:g.210349030T>C	ExAC,gnomAD
rs1183312420	p.Tyr20Cys	missense variant	-	CHR_HG1832_PATCH:g.210349034A>G	TOPMed,gnomAD
rs138327418	p.Tyr23Cys	missense variant	-	CHR_HG1832_PATCH:g.210349043A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756004234	p.Tyr26Phe	missense variant	-	CHR_HG1832_PATCH:g.210349052A>T	ExAC,TOPMed,gnomAD
rs756004234	p.Tyr26Cys	missense variant	-	CHR_HG1832_PATCH:g.210349052A>G	ExAC,TOPMed,gnomAD
rs1454105739	p.Lys27Arg	missense variant	-	CHR_HG1832_PATCH:g.210349055A>G	TOPMed,gnomAD
rs752918841	p.Ser29Cys	missense variant	-	CHR_HG1832_PATCH:g.210349061C>G	ExAC,gnomAD
rs186282077	p.Glu31Asp	missense variant	-	CHR_HG1832_PATCH:g.210362853A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs751737702	p.Glu33Lys	missense variant	-	CHR_HG1832_PATCH:g.210362857G>A	ExAC,TOPMed,gnomAD
rs1217467814	p.Glu34Lys	missense variant	-	CHR_HG1832_PATCH:g.210362860G>A	gnomAD
rs1241555812	p.Asp37Glu	missense variant	-	CHR_HG1832_PATCH:g.210362871C>A	gnomAD
rs1485201545	p.Glu39Lys	missense variant	-	CHR_HG1832_PATCH:g.210362875G>A	gnomAD
rs144245212	p.Phe40Leu	missense variant	-	CHR_HG1832_PATCH:g.210362880T>A	ESP,TOPMed
rs1426396610	p.Leu42Pro	missense variant	-	CHR_HG1832_PATCH:g.210362885T>C	gnomAD
rs1251088486	p.Thr46Ser	missense variant	-	CHR_HG1832_PATCH:g.210362897C>G	TOPMed
rs757329992	p.Thr46Ala	missense variant	-	CHR_HG1832_PATCH:g.210362896A>G	ExAC,TOPMed,gnomAD
rs201701816	p.Phe48Tyr	missense variant	-	CHR_HG1832_PATCH:g.210362903T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201701816	p.Phe48Ser	missense variant	-	CHR_HG1832_PATCH:g.210362903T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201701816	p.Phe48Cys	missense variant	-	CHR_HG1832_PATCH:g.210362903T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141591165	p.Gly49Arg	missense variant	-	CHR_HG1832_PATCH:g.210362905G>A	ESP,ExAC,TOPMed,gnomAD
rs756643679	p.Gly50Ter	stop gained	-	CHR_HG1832_PATCH:g.210362908G>T	ExAC,gnomAD
rs756643679	p.Gly50Arg	missense variant	-	CHR_HG1832_PATCH:g.210362908G>A	ExAC,gnomAD
rs1438602469	p.Lys53Glu	missense variant	-	CHR_HG1832_PATCH:g.210362917A>G	gnomAD
rs746548984	p.Asp54Val	missense variant	-	CHR_HG1832_PATCH:g.210387469A>T	ExAC,gnomAD
rs777471907	p.Asp54Asn	missense variant	-	CHR_HG1832_PATCH:g.210387468G>A	ExAC,gnomAD
rs139380328	p.Ala55Val	missense variant	-	CHR_HG1832_PATCH:g.210387472C>T	ESP,ExAC,TOPMed,gnomAD
rs867091715	p.Thr56Asn	missense variant	-	CHR_HG1832_PATCH:g.210387475C>A	TOPMed
rs1172717093	p.Asp57Asn	missense variant	-	CHR_HG1832_PATCH:g.210387477G>A	gnomAD
rs762065926	p.Trp60Ter	stop gained	-	CHR_HG1832_PATCH:g.210387487G>A	ExAC,gnomAD
rs1326549428	p.Trp60Arg	missense variant	-	CHR_HG1832_PATCH:g.210387486T>C	gnomAD
rs558364465	p.Phe62Ile	missense variant	-	CHR_HG1832_PATCH:g.210387492T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs773260603	p.Met64Val	missense variant	-	CHR_HG1832_PATCH:g.210387498A>G	ExAC,TOPMed,gnomAD
rs760841342	p.Glu65Lys	missense variant	-	CHR_HG1832_PATCH:g.210387501G>A	ExAC,TOPMed,gnomAD
rs1280659233	p.Trp66Ter	stop gained	-	CHR_HG1832_PATCH:g.210387505G>A	gnomAD
rs1195612827	p.Gln69Ter	stop gained	-	CHR_HG1832_PATCH:g.210387513C>T	gnomAD
rs754382840	p.Gln69Arg	missense variant	-	CHR_HG1832_PATCH:g.210387514A>G	ExAC
rs1188728045	p.Val72Leu	missense variant	-	CHR_HG1832_PATCH:g.210387522G>T	TOPMed
rs78052077	p.Val72Glu	missense variant	-	CHR_HG1832_PATCH:g.210387523T>A	ExAC,TOPMed,gnomAD
rs78052077	p.Val72Gly	missense variant	-	CHR_HG1832_PATCH:g.210387523T>G	ExAC,TOPMed,gnomAD
rs753087963	p.Trp73Gly	missense variant	-	CHR_HG1832_PATCH:g.210387525T>G	ExAC,gnomAD
rs758785739	p.Trp73Cys	missense variant	-	CHR_HG1832_PATCH:g.210387527G>T	ExAC
rs1473937850	p.Leu74Val	missense variant	-	CHR_HG1832_PATCH:g.210387528C>G	gnomAD
rs777596666	p.Leu75Phe	missense variant	-	CHR_HG1832_PATCH:g.210387531C>T	ExAC,gnomAD
rs746572782	p.Met79Thr	missense variant	-	CHR_HG1832_PATCH:g.210387544T>C	ExAC,gnomAD
rs1373594134	p.Met79Ile	missense variant	-	CHR_HG1832_PATCH:g.210387545G>A	gnomAD
rs1475019815	p.Val80Ile	missense variant	-	CHR_HG1832_PATCH:g.210387546G>A	gnomAD
rs1165981815	p.Val81Met	missense variant	-	CHR_HG1832_PATCH:g.210387549G>A	gnomAD
rs756801763	p.Val81Glu	missense variant	-	CHR_HG1832_PATCH:g.210387550T>A	ExAC,gnomAD
rs192652993	p.Thr86Pro	missense variant	-	CHR_HG1832_PATCH:g.210387564A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs769691809	p.Arg90Gly	missense variant	-	CHR_HG1832_PATCH:g.210387576A>G	ExAC,gnomAD
rs1169086872	p.His92Arg	missense variant	-	CHR_HG1832_PATCH:g.210400469A>G	gnomAD
rs774003816	p.Pro94His	missense variant	-	CHR_HG1832_PATCH:g.210400475C>A	ExAC,TOPMed,gnomAD
rs774003816	p.Pro94Arg	missense variant	-	CHR_HG1832_PATCH:g.210400475C>G	ExAC,TOPMed,gnomAD
rs1269395595	p.Ile96Ser	missense variant	-	CHR_HG1832_PATCH:g.210400481T>G	gnomAD
rs1192812979	p.Tyr100Cys	missense variant	-	CHR_HG1832_PATCH:g.210400493A>G	TOPMed,gnomAD
rs776861325	p.Gly101Arg	missense variant	-	CHR_HG1832_PATCH:g.210400495G>A	ExAC,gnomAD
rs1335123292	p.Met102Thr	missense variant	-	CHR_HG1832_PATCH:g.210400499T>C	TOPMed
rs769924809	p.Met102Leu	missense variant	-	CHR_HG1832_PATCH:g.210400498A>T	ExAC,TOPMed,gnomAD
rs1364527782	p.Cys105Tyr	missense variant	-	CHR_HG1832_PATCH:g.210400508G>A	gnomAD
rs1453153427	p.Trp106Cys	missense variant	-	CHR_HG1832_PATCH:g.210400512G>T	gnomAD
rs1156840610	p.Cys107Phe	missense variant	-	CHR_HG1832_PATCH:g.210400514G>T	gnomAD
rs763536701	p.Val108Leu	missense variant	-	CHR_HG1832_PATCH:g.210400516G>T	ExAC,gnomAD
rs1307835291	p.Gly110Arg	missense variant	-	CHR_HG1832_PATCH:g.210400522G>A	gnomAD
rs751842969	p.Thr111Asn	missense variant	-	CHR_HG1832_PATCH:g.210400526C>A	ExAC,TOPMed,gnomAD
rs145455128	p.Pro112Leu	missense variant	-	CHR_HG1832_PATCH:g.210400529C>T	ESP,ExAC,TOPMed,gnomAD
rs1046862949	p.Ala115Asp	missense variant	-	CHR_HG1832_PATCH:g.210400538C>A	TOPMed,gnomAD
rs199828596	p.Met116Val	missense variant	-	CHR_HG1832_PATCH:g.210400540A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1231178551	p.His120Tyr	missense variant	-	CHR_HG1832_PATCH:g.210400552C>T	gnomAD
rs941269680	p.Thr122Ala	missense variant	-	CHR_HG1832_PATCH:g.210400558A>G	TOPMed
rs1212970048	p.Thr122Ile	missense variant	-	CHR_HG1832_PATCH:g.210400559C>T	TOPMed,gnomAD
rs1271102309	p.Ser124Cys	missense variant	-	CHR_HG1832_PATCH:g.210400565C>G	gnomAD
rs1271102309	p.Ser124Phe	missense variant	-	CHR_HG1832_PATCH:g.210400565C>T	gnomAD
rs1040066135	p.Phe125Leu	missense variant	-	CHR_HG1832_PATCH:g.210400569C>G	TOPMed,gnomAD
rs1040066135	p.Phe125Leu	missense variant	-	CHR_HG1832_PATCH:g.210400569C>A	TOPMed,gnomAD
rs753831505	p.Cys126Gly	missense variant	-	CHR_HG1832_PATCH:g.210400570T>G	ExAC,gnomAD
rs375839407	p.Val127Met	missense variant	-	CHR_HG1832_PATCH:g.210400573G>A	ESP,ExAC,TOPMed,gnomAD
rs1475853230	p.Ala128Thr	missense variant	-	CHR_HG1832_PATCH:g.210400576G>A	gnomAD
rs141306397	p.Gln129Arg	missense variant	-	CHR_HG1832_PATCH:g.210400580A>G	ESP,ExAC,TOPMed,gnomAD
rs545915563	p.Gln129His	missense variant	-	CHR_HG1832_PATCH:g.210400581G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs746026575	p.Phe130Leu	missense variant	-	CHR_HG1832_PATCH:g.210400584C>G	ExAC,gnomAD
rs781566798	p.Phe130Cys	missense variant	-	CHR_HG1832_PATCH:g.210400583T>G	ExAC,TOPMed,gnomAD
rs370012146	p.Arg131Gln	missense variant	-	CHR_HG1832_PATCH:g.210400586G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370012146	p.Arg131Pro	missense variant	-	CHR_HG1832_PATCH:g.210400586G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138752308	p.Arg131Trp	missense variant	-	CHR_HG1832_PATCH:g.210400585C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1440623661	p.Gln133Ter	stop gained	-	CHR_HG1832_PATCH:g.210400591C>T	TOPMed
rs769025548	p.Thr136Ala	missense variant	-	CHR_HG1832_PATCH:g.210400600A>G	ExAC,gnomAD
rs376054556	p.Thr136Met	missense variant	-	CHR_HG1832_PATCH:g.210400601C>T	ExAC,TOPMed,gnomAD
rs376054556	p.Thr136Lys	missense variant	-	CHR_HG1832_PATCH:g.210400601C>A	ExAC,TOPMed,gnomAD
rs767857766	p.Trp137Cys	missense variant	-	CHR_HG1832_PATCH:g.210400605G>C	ExAC,gnomAD
rs750090558	p.Cys139Arg	missense variant	-	CHR_HG1832_PATCH:g.210400609T>C	ExAC,gnomAD
rs760308081	p.Ser140Cys	missense variant	-	CHR_HG1832_PATCH:g.210400613C>G	ExAC,gnomAD
rs765941795	p.Thr146Ala	missense variant	-	CHR_HG1832_PATCH:g.210400630A>G	ExAC,gnomAD
rs200772379	p.Thr146Ile	missense variant	-	CHR_HG1832_PATCH:g.210400631C>T	TOPMed
rs374495612	p.Gly151Ser	missense variant	-	CHR_HG1832_PATCH:g.210400645G>A	ESP,TOPMed,gnomAD
rs753322887	p.Glu153Lys	missense variant	-	CHR_HG1832_PATCH:g.210400651G>A	ExAC,gnomAD
rs754462235	p.Val155Ile	missense variant	-	CHR_HG1832_PATCH:g.210400657G>A	ExAC,TOPMed,gnomAD
rs1055755703	p.Arg157Thr	missense variant	-	CHR_HG1832_PATCH:g.210404465G>C	TOPMed,gnomAD
rs764017113	p.Lys161Gln	missense variant	-	CHR_HG1832_PATCH:g.210404476A>C	ExAC,TOPMed,gnomAD
rs748514239	p.Asn164Asp	missense variant	-	CHR_HG1832_PATCH:g.210404485A>G	ExAC,TOPMed,gnomAD
rs374048677	p.Glu165Lys	missense variant	-	CHR_HG1832_PATCH:g.210404488G>A	ESP,ExAC,gnomAD
rs139483274	p.Thr172Met	missense variant	-	CHR_HG1832_PATCH:g.210404510C>T	ESP,ExAC,TOPMed,gnomAD
rs1365991028	p.Thr174Ser	missense variant	-	CHR_HG1832_PATCH:g.210404515A>T	gnomAD
rs747405504	p.Thr174Ile	missense variant	-	CHR_HG1832_PATCH:g.210404516C>T	ExAC,gnomAD
rs776159715	p.Val175Ile	missense variant	-	CHR_HG1832_PATCH:g.210404518G>A	ExAC,gnomAD
rs567439002	p.Arg176Cys	missense variant	-	CHR_HG1832_PATCH:g.210404521C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs145435771	p.Arg176Leu	missense variant	-	CHR_HG1832_PATCH:g.210404522G>T	ESP,ExAC,TOPMed,gnomAD
rs145435771	p.Arg176His	missense variant	-	CHR_HG1832_PATCH:g.210404522G>A	ESP,ExAC,TOPMed,gnomAD
rs775030191	p.Cys177Tyr	missense variant	-	CHR_HG1832_PATCH:g.210404525G>A	ExAC,gnomAD
rs1374615080	p.Leu178Val	missense variant	-	CHR_HG1832_PATCH:g.210404527C>G	TOPMed
rs535833711	p.Tyr179Cys	missense variant	-	CHR_HG1832_PATCH:g.210404531A>G	1000Genomes,ExAC,gnomAD
rs765901690	p.Thr181Ile	missense variant	-	CHR_HG1832_PATCH:g.210404537C>T	TOPMed,gnomAD
rs765901690	p.Thr181Asn	missense variant	-	CHR_HG1832_PATCH:g.210404537C>A	TOPMed,gnomAD
rs2294851	p.Ser182Asn	missense variant	-	CHR_HG1832_PATCH:g.210404540G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1206506032	p.Ser184Ile	missense variant	-	CHR_HG1832_PATCH:g.210404546G>T	gnomAD
rs755225544	p.Leu185Val	missense variant	-	CHR_HG1832_PATCH:g.210404548C>G	ExAC,gnomAD
rs34228541	p.Cys188Arg	missense variant	-	CHR_HG1832_PATCH:g.210404557T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs955610159	p.Leu192Pro	missense variant	-	CHR_HG1832_PATCH:g.210404570T>C	TOPMed
rs758432747	p.Pro193Arg	missense variant	-	CHR_HG1832_PATCH:g.210404573C>G	ExAC,TOPMed,gnomAD
rs758432747	p.Pro193Leu	missense variant	-	CHR_HG1832_PATCH:g.210404573C>T	ExAC,TOPMed,gnomAD
rs376601925	p.Ser196Leu	missense variant	-	CHR_HG1832_PATCH:g.210404582C>T	ESP,TOPMed,gnomAD
rs1327760185	p.Thr197Pro	missense variant	-	CHR_HG1832_PATCH:g.210404584A>C	gnomAD
rs747455697	p.Tyr199Cys	missense variant	-	CHR_HG1832_PATCH:g.210404591A>G	ExAC,gnomAD
rs781614202	p.Ser200Phe	missense variant	-	CHR_HG1832_PATCH:g.210404594C>T	ExAC,gnomAD
rs771340497	p.Ser200Pro	missense variant	-	CHR_HG1832_PATCH:g.210404593T>C	ExAC,TOPMed,gnomAD
rs1219742764	p.Pro202Ser	missense variant	-	CHR_HG1832_PATCH:g.210404599C>T	gnomAD
rs1234274214	p.Ala206Thr	missense variant	-	CHR_HG1832_PATCH:g.210404611G>A	TOPMed,gnomAD
rs1176162825	p.Tyr207Cys	missense variant	-	CHR_HG1832_PATCH:g.210404615A>G	TOPMed,gnomAD
rs1393561796	p.Phe209Leu	missense variant	-	CHR_HG1832_PATCH:g.210404622T>G	gnomAD
rs769462211	p.Phe209Tyr	missense variant	-	CHR_HG1832_PATCH:g.210404621T>A	ExAC,TOPMed,gnomAD
rs774960950	p.Tyr210Ser	missense variant	-	CHR_HG1832_PATCH:g.210404624A>C	ExAC,TOPMed,gnomAD
rs1459691356	p.Tyr210His	missense variant	-	CHR_HG1832_PATCH:g.210404623T>C	gnomAD
rs774960950	p.Tyr210Cys	missense variant	-	CHR_HG1832_PATCH:g.210404624A>G	ExAC,TOPMed,gnomAD
rs1165960690	p.Tyr211His	missense variant	-	CHR_HG1832_PATCH:g.210404626T>C	gnomAD
rs768217049	p.Pro212Leu	missense variant	-	CHR_HG1832_PATCH:g.210404630C>T	ExAC,gnomAD
rs1443167558	p.His215Arg	missense variant	-	CHR_HG1832_PATCH:g.210404639A>G	gnomAD
rs1048728289	p.Asn216Ser	missense variant	-	CHR_HG1832_PATCH:g.210404642A>G	TOPMed,gnomAD
rs147320835	p.Phe222Leu	missense variant	-	CHR_HG1832_PATCH:g.210404659T>C	ESP,ExAC,TOPMed,gnomAD
rs767486877	p.Ser223Leu	missense variant	-	CHR_HG1832_PATCH:g.210404663C>T	ExAC,gnomAD
rs965938188	p.Glu224Asp	missense variant	-	CHR_HG1832_PATCH:g.210404667G>C	gnomAD
rs750203730	p.Phe225Val	missense variant	-	CHR_HG1832_PATCH:g.210404668T>G	ExAC,gnomAD
rs1328074882	p.Lys227Arg	missense variant	-	CHR_HG1832_PATCH:g.210404675A>G	TOPMed
rs1203362333	p.Gln228Arg	missense variant	-	CHR_HG1832_PATCH:g.210404678A>G	gnomAD
rs1394872962	p.Met229Leu	missense variant	-	CHR_HG1832_PATCH:g.210418154A>T	TOPMed,gnomAD
rs749015922	p.Gln231Lys	missense variant	-	CHR_HG1832_PATCH:g.210418160C>A	ExAC,TOPMed,gnomAD
rs749015922	p.Gln231Glu	missense variant	-	CHR_HG1832_PATCH:g.210418160C>G	ExAC,TOPMed,gnomAD
rs778617403	p.Gln231Pro	missense variant	-	CHR_HG1832_PATCH:g.210418161A>C	ExAC,gnomAD
rs749015922	p.Gln231Ter	stop gained	-	CHR_HG1832_PATCH:g.210418160C>T	ExAC,TOPMed,gnomAD
rs1231520076	p.His234Tyr	missense variant	-	CHR_HG1832_PATCH:g.210418169C>T	TOPMed
rs771415014	p.Asp235Asn	missense variant	-	CHR_HG1832_PATCH:g.210418172G>A	ExAC
rs773212620	p.Ser236Phe	missense variant	-	CHR_HG1832_PATCH:g.210418176C>T	ExAC,gnomAD
rs746907598	p.Leu237Met	missense variant	-	CHR_HG1832_PATCH:g.210418178C>A	ExAC,TOPMed,gnomAD
rs376960795	p.Leu241Gln	missense variant	-	CHR_HG1832_PATCH:g.210418191T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200438732	p.Cys242Arg	missense variant	-	CHR_HG1832_PATCH:g.210418193T>C	ESP,ExAC,TOPMed,gnomAD
rs200438732	p.Cys242Gly	missense variant	-	CHR_HG1832_PATCH:g.210418193T>G	ESP,ExAC,TOPMed,gnomAD
rs374579980	p.Cys242Tyr	missense variant	-	CHR_HG1832_PATCH:g.210418194G>A	ESP,ExAC,gnomAD
rs1284891579	p.Val243Ala	missense variant	-	CHR_HG1832_PATCH:g.210418197T>C	gnomAD
rs764319347	p.Ala245Val	missense variant	-	CHR_HG1832_PATCH:g.210418203C>T	ExAC,gnomAD
rs764319347	p.Ala245Asp	missense variant	-	CHR_HG1832_PATCH:g.210418203C>A	ExAC,gnomAD
rs764319347	p.Ala245Gly	missense variant	-	CHR_HG1832_PATCH:g.210418203C>G	ExAC,gnomAD
rs767440738	p.Gly247Arg	missense variant	-	CHR_HG1832_PATCH:g.210418208G>A	ExAC,gnomAD
rs368531187	p.Gly249Ser	missense variant	-	CHR_HG1832_PATCH:g.210418214G>A	ESP,TOPMed
rs148639278	p.Arg250His	missense variant	-	CHR_HG1832_PATCH:g.210418218G>A	ESP,ExAC,TOPMed,gnomAD
rs766891856	p.Arg250Cys	missense variant	-	CHR_HG1832_PATCH:g.210418217C>T	ExAC,TOPMed,gnomAD
rs148639278	p.Arg250Pro	missense variant	-	CHR_HG1832_PATCH:g.210418218G>C	ESP,ExAC,TOPMed,gnomAD
rs987044311	p.Trp254Ter	stop gained	-	CHR_HG1832_PATCH:g.210418231G>A	TOPMed
rs778740258	p.Trp254Ser	missense variant	-	CHR_HG1832_PATCH:g.210418230G>C	ExAC,TOPMed,gnomAD
rs1021644358	p.Trp255Leu	missense variant	-	CHR_HG1832_PATCH:g.210418233G>T	gnomAD
rs1021644358	p.Trp255Ter	stop gained	-	CHR_HG1832_PATCH:g.210418233G>A	gnomAD
rs372024732	p.Trp256Ter	stop gained	-	CHR_HG1832_PATCH:g.210418237G>A	ESP,gnomAD
rs747743664	p.Ala258Thr	missense variant	-	CHR_HG1832_PATCH:g.210418241G>A	ExAC,gnomAD
rs757984265	p.Ala258Val	missense variant	-	CHR_HG1832_PATCH:g.210418242C>T	ExAC,gnomAD
rs770748303	p.Glu259Lys	missense variant	-	CHR_HG1832_PATCH:g.210418244G>A	ExAC,gnomAD
rs576213719	p.His263Gln	missense variant	-	CHR_HG1832_PATCH:g.210418258C>A	1000Genomes,ExAC,gnomAD
rs745691529	p.Leu264Met	missense variant	-	CHR_HG1832_PATCH:g.210418259C>A	ExAC,TOPMed,gnomAD
rs769514962	p.Leu264Pro	missense variant	-	CHR_HG1832_PATCH:g.210418260T>C	ExAC,TOPMed,gnomAD
rs375086953	p.Met265Val	missense variant	-	CHR_HG1832_PATCH:g.210418262A>G	ESP,ExAC,TOPMed,gnomAD
rs543648313	p.Tyr266Asp	missense variant	-	CHR_HG1832_PATCH:g.210418265T>G	1000Genomes,ExAC,gnomAD
rs543648313	p.Tyr266Asn	missense variant	-	CHR_HG1832_PATCH:g.210418265T>A	1000Genomes,ExAC,gnomAD
rs767706148	p.Met267Ile	missense variant	-	CHR_HG1832_PATCH:g.210418270G>T	ExAC,gnomAD
rs1274887070	p.Ile270Phe	missense variant	-	CHR_HG1832_PATCH:g.210418277A>T	gnomAD
rs1468755372	p.Tyr271Cys	missense variant	-	CHR_HG1832_PATCH:g.210418281A>G	TOPMed,gnomAD
rs1408361995	p.Ser273Asn	missense variant	-	CHR_HG1832_PATCH:g.210418287G>A	gnomAD
rs761293868	p.Leu276Ile	missense variant	-	CHR_HG1832_PATCH:g.210418295C>A	ExAC,gnomAD
rs761293868	p.Leu276Val	missense variant	-	CHR_HG1832_PATCH:g.210418295C>G	ExAC,gnomAD
rs561841936	p.Glu278Asp	missense variant	-	CHR_HG1832_PATCH:g.210418303G>T	1000Genomes,ExAC,gnomAD
rs754359000	p.Cys282Ser	missense variant	-	CHR_HG1832_PATCH:g.210418314G>C	ExAC,TOPMed,gnomAD
rs754359000	p.Cys282Phe	missense variant	-	CHR_HG1832_PATCH:g.210418314G>T	ExAC,TOPMed,gnomAD
rs1310390993	p.Gly287Ter	stop gained	-	CHR_HG1832_PATCH:g.210464507G>T	gnomAD
rs1173716957	p.Gly287Val	missense variant	-	CHR_HG1832_PATCH:g.210464508G>T	TOPMed
rs1435982918	p.Leu288Val	missense variant	-	CHR_HG1832_PATCH:g.210464510C>G	TOPMed
rs192286679	p.Ala289Val	missense variant	-	CHR_HG1832_PATCH:g.210464514C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1475643148	p.Gln292Arg	missense variant	-	CHR_HG1832_PATCH:g.210464523A>G	TOPMed
rs1243613343	p.Val293Glu	missense variant	-	CHR_HG1832_PATCH:g.210464526T>A	TOPMed
rs1018558976	p.Phe295Ser	missense variant	-	CHR_HG1832_PATCH:g.210464532T>C	TOPMed
rs1341668706	p.Phe296Leu	missense variant	-	CHR_HG1832_PATCH:g.210464536C>G	gnomAD
rs1487919886	p.Tyr297Cys	missense variant	-	CHR_HG1832_PATCH:g.210464538A>G	TOPMed
rs967141075	p.Val298Met	missense variant	-	CHR_HG1832_PATCH:g.210464540G>A	TOPMed,gnomAD
rs1181785857	p.Lys299Thr	missense variant	-	CHR_HG1832_PATCH:g.210464544A>C	gnomAD
rs144173927	p.Lys299Gln	missense variant	-	CHR_HG1832_PATCH:g.210464543A>C	ESP,ExAC,TOPMed,gnomAD
rs756776629	p.Tyr300His	missense variant	-	CHR_HG1832_PATCH:g.210464546T>C	ExAC,gnomAD
rs541167454	p.Tyr300Cys	missense variant	-	CHR_HG1832_PATCH:g.210464547A>G	TOPMed
rs780669166	p.Val302Ala	missense variant	-	CHR_HG1832_PATCH:g.210464553T>C	ExAC,TOPMed
rs1389201461	p.Leu303Phe	missense variant	-	CHR_HG1832_PATCH:g.210464555C>T	gnomAD
rs779948186	p.Val306Leu	missense variant	-	CHR_HG1832_PATCH:g.210464564G>T	ExAC,TOPMed,gnomAD
rs779948186	p.Val306Met	missense variant	-	CHR_HG1832_PATCH:g.210464564G>A	ExAC,TOPMed,gnomAD
rs749060244	p.Pro307Leu	missense variant	-	CHR_HG1832_PATCH:g.210464568C>T	ExAC,TOPMed,gnomAD
rs1296554350	p.Leu310Pro	missense variant	-	CHR_HG1832_PATCH:g.210464577T>C	gnomAD
rs200901586	p.Met311Thr	missense variant	-	CHR_HG1832_PATCH:g.210464580T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs34362403	p.Arg312His	missense variant	-	CHR_HG1832_PATCH:g.210464583G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777865030	p.Arg312Cys	missense variant	-	CHR_HG1832_PATCH:g.210464582C>T	ExAC,TOPMed,gnomAD
rs777865030	p.Arg312Ser	missense variant	-	CHR_HG1832_PATCH:g.210464582C>A	ExAC,TOPMed,gnomAD
rs1463422784	p.Asp314Asn	missense variant	-	CHR_HG1832_PATCH:g.210464588G>A	gnomAD
rs1209434701	p.Asp314Glu	missense variant	-	CHR_HG1832_PATCH:g.210464590T>A	TOPMed,gnomAD
rs771201072	p.Thr317Ile	missense variant	-	CHR_HG1832_PATCH:g.210464598C>T	ExAC,TOPMed,gnomAD
rs1254789301	p.Thr317Ala	missense variant	-	CHR_HG1832_PATCH:g.210464597A>G	TOPMed,gnomAD
rs1026211141	p.Pro318Leu	missense variant	-	CHR_HG1832_PATCH:g.210464601C>T	TOPMed
rs770442814	p.Pro319Ser	missense variant	-	CHR_HG1832_PATCH:g.210464603C>T	ExAC,gnomAD
rs143700139	p.Ala320Thr	missense variant	-	CHR_HG1832_PATCH:g.210464606G>A	ESP,ExAC,TOPMed,gnomAD
rs143700139	p.Ala320Ser	missense variant	-	CHR_HG1832_PATCH:g.210464606G>T	ESP,ExAC,TOPMed,gnomAD
rs143700139	p.Ala320Pro	missense variant	-	CHR_HG1832_PATCH:g.210464606G>C	ESP,ExAC,TOPMed,gnomAD
rs534915659	p.Leu321Phe	missense variant	-	CHR_HG1832_PATCH:g.210464609C>T	1000Genomes,ExAC,gnomAD
rs773936014	p.Pro322Ser	missense variant	-	CHR_HG1832_PATCH:g.210464612C>T	ExAC,TOPMed,gnomAD
rs761454249	p.Pro322Leu	missense variant	-	CHR_HG1832_PATCH:g.210464613C>T	ExAC,TOPMed,gnomAD
rs146916002	p.Arg323Cys	missense variant	-	CHR_HG1832_PATCH:g.210464615C>T	ESP,ExAC,TOPMed,gnomAD
rs146916002	p.Arg323Ser	missense variant	-	CHR_HG1832_PATCH:g.210464615C>A	ESP,ExAC,TOPMed,gnomAD
rs749916241	p.Arg323His	missense variant	-	CHR_HG1832_PATCH:g.210464616G>A	ExAC,TOPMed,gnomAD
rs766259679	p.Val325Met	missense variant	-	CHR_HG1832_PATCH:g.210464621G>A	ExAC,TOPMed,gnomAD
rs1310979158	p.Ser326Asn	missense variant	-	CHR_HG1832_PATCH:g.210464625G>A	gnomAD
rs1305915605	p.Ser326Arg	missense variant	-	CHR_HG1832_PATCH:g.210464624A>C	gnomAD
rs753743106	p.Thr327Ala	missense variant	-	CHR_HG1832_PATCH:g.210464627A>G	ExAC,gnomAD
rs369156629	p.Met328Ile	missense variant	-	CHR_HG1832_PATCH:g.210464632G>A	ESP,ExAC,TOPMed,gnomAD
rs1319305222	p.Ser330Gly	missense variant	-	CHR_HG1832_PATCH:g.210464636A>G	gnomAD
rs778762203	p.Ser330Asn	missense variant	-	CHR_HG1832_PATCH:g.210464637G>A	ExAC,TOPMed,gnomAD
rs778762203	p.Ser330Thr	missense variant	-	CHR_HG1832_PATCH:g.210464637G>C	ExAC,TOPMed,gnomAD
rs1267974210	p.Thr332Ile	missense variant	-	CHR_HG1832_PATCH:g.210464643C>T	gnomAD
rs61744143	p.Gly333Arg	missense variant	-	CHR_HG1832_PATCH:g.210464645G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1418277029	p.Met334Lys	missense variant	-	CHR_HG1832_PATCH:g.210464649T>A	TOPMed
rs1477472411	p.Met334Leu	missense variant	-	CHR_HG1832_PATCH:g.210464648A>T	TOPMed,gnomAD
rs1477472411	p.Met334Val	missense variant	-	CHR_HG1832_PATCH:g.210464648A>G	TOPMed,gnomAD
rs774794788	p.Arg336Ser	missense variant	-	CHR_HG1832_PATCH:g.210513153G>T	ExAC,gnomAD
rs1480552168	p.Tyr337His	missense variant	-	CHR_HG1832_PATCH:g.210513154T>C	TOPMed
rs1486645557	p.Asp339Glu	missense variant	-	CHR_HG1832_PATCH:g.210513162T>A	gnomAD
rs1236766012	p.Val340Ala	missense variant	-	CHR_HG1832_PATCH:g.210513164T>C	gnomAD
rs748544351	p.Val340Ile	missense variant	-	CHR_HG1832_PATCH:g.210513163G>A	ExAC,gnomAD
rs1471698324	p.His343Tyr	missense variant	-	CHR_HG1832_PATCH:g.210513172C>T	TOPMed,gnomAD
rs1229863213	p.Arg348Ser	missense variant	-	CHR_HG1832_PATCH:g.210587898G>C	TOPMed
rs1229863213	p.Arg348Ser	missense variant	-	CHR_HG1832_PATCH:g.210587898G>T	TOPMed
rs1430616111	p.Arg348Thr	missense variant	-	CHR_HG1832_PATCH:g.210513188G>C	gnomAD
rs529893253	p.Val350Glu	missense variant	-	CHR_HG1832_PATCH:g.210587903T>A	1000Genomes,ExAC,gnomAD
rs1413244904	p.Tyr351Cys	missense variant	-	CHR_HG1832_PATCH:g.210587906A>G	gnomAD
rs778078227	p.Ile352Leu	missense variant	-	CHR_HG1832_PATCH:g.210587908A>C	ExAC,gnomAD
rs778078227	p.Ile352Val	missense variant	-	CHR_HG1832_PATCH:g.210587908A>G	ExAC,gnomAD
rs746687297	p.Pro353Ser	missense variant	-	CHR_HG1832_PATCH:g.210587911C>T	ExAC,gnomAD
rs768820197	p.Gly355Ser	missense variant	-	CHR_HG1832_PATCH:g.210587917G>A	TOPMed,gnomAD
rs776106560	p.Gly356Arg	missense variant	-	CHR_HG1832_PATCH:g.210587920G>A	ExAC,TOPMed,gnomAD
rs1336939401	p.Ser357Cys	missense variant	-	CHR_HG1832_PATCH:g.210587924C>G	TOPMed
rs1331461975	p.Gln358Arg	missense variant	-	CHR_HG1832_PATCH:g.210587927A>G	TOPMed
rs1390109673	p.His359Tyr	missense variant	-	CHR_HG1832_PATCH:g.210587929C>T	TOPMed
rs775624263	p.Leu361Met	missense variant	-	CHR_HG1832_PATCH:g.210587935C>A	ExAC,TOPMed,gnomAD
rs1189204348	p.Leu362Arg	missense variant	-	CHR_HG1832_PATCH:g.210587939T>G	gnomAD
rs1472183131	p.Leu365Arg	missense variant	-	CHR_HG1832_PATCH:g.210587948T>G	TOPMed
rs1206534082	p.Leu365Val	missense variant	-	CHR_HG1832_PATCH:g.210587947C>G	TOPMed,gnomAD
rs150462339	p.Phe366Leu	missense variant	-	CHR_HG1832_PATCH:g.210587952T>G	ESP,ExAC,TOPMed,gnomAD
rs150462339	p.Phe366Leu	missense variant	-	CHR_HG1832_PATCH:g.210587952T>A	ESP,ExAC,TOPMed,gnomAD
rs761470224	p.Thr368Met	missense variant	-	CHR_HG1832_PATCH:g.210587957C>T	ExAC,TOPMed,gnomAD
rs1250855428	p.Ala369Thr	missense variant	-	CHR_HG1832_PATCH:g.210587959G>A	TOPMed
rs753942041	p.Ala369Val	missense variant	-	CHR_HG1832_PATCH:g.210587960C>T	ExAC,TOPMed,gnomAD
rs761768543	p.Met370Ile	missense variant	-	CHR_HG1832_PATCH:g.210587964G>A	ExAC,gnomAD
rs753271439	p.Met370Leu	missense variant	-	CHR_HG1832_PATCH:g.210587962A>T	ExAC,gnomAD
rs753271439	p.Met370Val	missense variant	-	CHR_HG1832_PATCH:g.210587962A>G	ExAC,gnomAD
rs778202949	p.Thr371Ala	missense variant	-	CHR_HG1832_PATCH:g.210587965A>G	ExAC,gnomAD
rs149597734	p.Thr371Ile	missense variant	-	CHR_HG1832_PATCH:g.210587966C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs771134636	p.Phe372Ser	missense variant	-	CHR_HG1832_PATCH:g.210587969T>C	ExAC,TOPMed,gnomAD
rs771134636	p.Phe372Cys	missense variant	-	CHR_HG1832_PATCH:g.210587969T>G	ExAC,TOPMed,gnomAD
rs771134636	p.Phe372Tyr	missense variant	-	CHR_HG1832_PATCH:g.210587969T>A	ExAC,TOPMed,gnomAD
rs780907560	p.Ala373Thr	missense variant	-	CHR_HG1832_PATCH:g.210587971G>A	ExAC,gnomAD
rs745491597	p.Tyr377Cys	missense variant	-	CHR_HG1832_PATCH:g.210587984A>G	ExAC,gnomAD
rs769492158	p.Trp378Cys	missense variant	-	CHR_HG1832_PATCH:g.210587988G>C	ExAC,gnomAD
rs1350371972	p.Trp378Ter	stop gained	-	CHR_HG1832_PATCH:g.210587987G>A	TOPMed
rs75379612	p.Trp378Gly	missense variant	-	CHR_HG1832_PATCH:g.210587986T>G	gnomAD
rs1407130052	p.His379Arg	missense variant	-	CHR_HG1832_PATCH:g.210587990A>G	TOPMed
rs191150462	p.His379Tyr	missense variant	-	CHR_HG1832_PATCH:g.210587989C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1319221366	p.Gly380Ser	missense variant	-	CHR_HG1832_PATCH:g.210587992G>A	gnomAD
rs755024350	p.Gly381Ser	missense variant	-	CHR_HG1832_PATCH:g.210587995G>A	ExAC,TOPMed,gnomAD
rs1210658100	p.Tyr382His	missense variant	-	CHR_HG1832_PATCH:g.210587998T>C	gnomAD
rs148696006	p.Asp383Gly	missense variant	-	CHR_HG1832_PATCH:g.210588002A>G	ESP,ExAC,TOPMed,gnomAD
rs148696006	p.Asp383Ala	missense variant	-	CHR_HG1832_PATCH:g.210588002A>C	ESP,ExAC,TOPMed,gnomAD
rs537432647	p.Asp383Asn	missense variant	-	CHR_HG1832_PATCH:g.210588001G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1471597942	p.Asp383Glu	missense variant	-	CHR_HG1832_PATCH:g.210588003C>G	TOPMed
rs1472535776	p.Leu385Pro	missense variant	-	CHR_HG1832_PATCH:g.210588008T>C	gnomAD
rs1253211468	p.Leu385Phe	missense variant	-	CHR_HG1832_PATCH:g.210588007C>T	gnomAD
rs776973400	p.Trp386Cys	missense variant	-	CHR_HG1832_PATCH:g.210588012G>T	ExAC,gnomAD
rs776973400	p.Trp386Cys	missense variant	-	CHR_HG1832_PATCH:g.210588012G>C	ExAC,gnomAD
rs958275249	p.Cys387Tyr	missense variant	-	CHR_HG1832_PATCH:g.210588014G>A	TOPMed
rs1286369938	p.Cys387Gly	missense variant	-	CHR_HG1832_PATCH:g.210588013T>G	TOPMed,gnomAD
rs759676083	p.Trp388Ter	stop gained	-	CHR_HG1832_PATCH:g.210588018G>A	ExAC,gnomAD
rs765348085	p.Ala389Thr	missense variant	-	CHR_HG1832_PATCH:g.210588019G>A	ExAC,gnomAD
rs139134333	p.Ala390Val	missense variant	-	CHR_HG1832_PATCH:g.210588023C>T	ESP,ExAC,TOPMed,gnomAD
rs139134333	p.Ala390Glu	missense variant	-	CHR_HG1832_PATCH:g.210588023C>A	ESP,ExAC,TOPMed,gnomAD
rs1447758274	p.Leu391Pro	missense variant	-	CHR_HG1832_PATCH:g.210588026T>C	TOPMed
rs1308080230	p.Leu391Phe	missense variant	-	CHR_HG1832_PATCH:g.210588025C>T	gnomAD
rs145501609	p.Asn392Ser	missense variant	-	CHR_HG1832_PATCH:g.210588029A>G	ESP,ExAC,TOPMed,gnomAD
rs781404828	p.Asn392Lys	missense variant	-	CHR_HG1832_PATCH:g.210588030C>G	ExAC,gnomAD
rs745572125	p.Trp393Ter	stop gained	-	CHR_HG1832_PATCH:g.210588033G>A	ExAC,gnomAD
rs1041130066	p.Gly395Glu	missense variant	-	CHR_HG1832_PATCH:g.210588038G>A	TOPMed
rs1329136878	p.Val396Ile	missense variant	-	CHR_HG1832_PATCH:g.210588040G>A	TOPMed
rs201464164	p.Thr397Ala	missense variant	-	CHR_HG1832_PATCH:g.210588043A>G	ExAC,gnomAD
rs1354462659	p.Glu399Gly	missense variant	-	CHR_HG1832_PATCH:g.210588050A>G	TOPMed,gnomAD
rs528513055	p.Asn400Ile	missense variant	-	CHR_HG1832_PATCH:g.210588053A>T	TOPMed,gnomAD
rs528513055	p.Asn400Ser	missense variant	-	CHR_HG1832_PATCH:g.210588053A>G	TOPMed,gnomAD
rs1435366590	p.Gly401Arg	missense variant	-	CHR_HG1832_PATCH:g.210588055G>A	TOPMed
rs147691760	p.Val402Ala	missense variant	-	CHR_HG1832_PATCH:g.210588059T>C	ESP,gnomAD
rs368498838	p.Arg403Gln	missense variant	-	CHR_HG1832_PATCH:g.210588062G>A	ESP,ExAC,TOPMed,gnomAD
rs144274904	p.Arg403Trp	missense variant	-	CHR_HG1832_PATCH:g.210588061C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1387194915	p.Val406Ala	missense variant	-	CHR_HG1832_PATCH:g.210588071T>C	TOPMed
rs772854695	p.Glu407Lys	missense variant	-	CHR_HG1832_PATCH:g.210588073G>A	ExAC,TOPMed,gnomAD
rs760410532	p.Thr408Ile	missense variant	-	CHR_HG1832_PATCH:g.210588077C>T	ExAC,gnomAD
rs765471482	p.Pro409Ala	missense variant	-	CHR_HG1832_PATCH:g.210588079C>G	ExAC,TOPMed,gnomAD
rs765471482	p.Pro409Thr	missense variant	-	CHR_HG1832_PATCH:g.210588079C>A	ExAC,TOPMed,gnomAD
rs1190379715	p.Asp413Ala	missense variant	-	CHR_HG1832_PATCH:g.210588092A>C	TOPMed
rs572645178	p.Ser414Arg	missense variant	-	CHR_HG1832_PATCH:g.210588094A>C	1000Genomes,ExAC,gnomAD
rs1274596916	p.Ala416Thr	missense variant	-	CHR_HG1832_PATCH:g.210623526G>A	TOPMed
rs372287242	p.Arg417Gln	missense variant	-	CHR_HG1832_PATCH:g.210623530G>A	ESP,ExAC,TOPMed,gnomAD
rs767942183	p.Arg417Ter	stop gained	-	CHR_HG1832_PATCH:g.210623529C>T	ExAC,TOPMed,gnomAD
rs761135455	p.Tyr418Ter	stop gained	-	CHR_HG1832_PATCH:g.210623534C>A	ExAC,gnomAD
rs1400124587	p.Ser420Thr	missense variant	-	CHR_HG1832_PATCH:g.210623538T>A	TOPMed
rs766841031	p.Pro421Leu	missense variant	-	CHR_HG1832_PATCH:g.210623542C>T	ExAC,TOPMed,gnomAD
rs147869616	p.Gln422Arg	missense variant	-	CHR_HG1832_PATCH:g.210623545A>G	ESP,ExAC,TOPMed,gnomAD
rs752178549	p.Arg424His	missense variant	-	CHR_HG1832_PATCH:g.210623551G>A	ExAC,TOPMed,gnomAD
rs778537110	p.Arg424Cys	missense variant	-	CHR_HG1832_PATCH:g.210623550C>T	ExAC,gnomAD
rs777581246	p.Arg425His	missense variant	-	CHR_HG1832_PATCH:g.210623554G>A	ExAC,TOPMed,gnomAD
rs367896407	p.Arg425Cys	missense variant	-	CHR_HG1832_PATCH:g.210623553C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs371790765	p.Arg426Gln	missense variant	-	CHR_HG1832_PATCH:g.210623557G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs371790765	p.Arg426Leu	missense variant	-	CHR_HG1832_PATCH:g.210623557G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs770778775	p.Phe427Leu	missense variant	-	CHR_HG1832_PATCH:g.210623559T>C	ExAC,gnomAD
rs780932919	p.Phe427Leu	missense variant	-	CHR_HG1832_PATCH:g.210623561C>A	ExAC,gnomAD
rs780932919	p.Phe427Leu	missense variant	-	CHR_HG1832_PATCH:g.210623561C>G	ExAC,gnomAD
rs1267872556	p.His428Tyr	missense variant	-	CHR_HG1832_PATCH:g.210623562C>T	gnomAD
rs376491664	p.Ala429Thr	missense variant	-	CHR_HG1832_PATCH:g.210623565G>A	ESP,ExAC,TOPMed,gnomAD
rs1020683342	p.Ala430Thr	missense variant	-	CHR_HG1832_PATCH:g.210623568G>A	TOPMed
rs1246866620	p.Ala430Val	missense variant	-	CHR_HG1832_PATCH:g.210623569C>T	gnomAD
rs1327162202	p.Leu431Arg	missense variant	-	CHR_HG1832_PATCH:g.210623572T>G	gnomAD
rs772132903	p.Leu431Phe	missense variant	-	CHR_HG1832_PATCH:g.210623571C>T	ExAC,TOPMed,gnomAD
rs772132903	p.Leu431Val	missense variant	-	CHR_HG1832_PATCH:g.210623571C>G	ExAC,TOPMed,gnomAD
rs1202168184	p.Ser433Cys	missense variant	-	CHR_HG1832_PATCH:g.210623578C>G	TOPMed,gnomAD
rs952228974	p.Thr436Ile	missense variant	-	CHR_HG1832_PATCH:g.210623587C>T	TOPMed,gnomAD
rs113371678	p.Ser437Trp	missense variant	-	CHR_HG1832_PATCH:g.210623590C>G	ExAC,TOPMed,gnomAD
rs113371678	p.Ser437Leu	missense variant	-	CHR_HG1832_PATCH:g.210623590C>T	ExAC,TOPMed,gnomAD
rs202236243	p.Ile440Ser	missense variant	-	CHR_HG1832_PATCH:g.210623599T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs759902169	p.Asn443Ser	missense variant	-	CHR_HG1832_PATCH:g.210623608A>G	ExAC,gnomAD
rs764798520	p.Leu444Met	missense variant	-	CHR_HG1832_PATCH:g.210623610C>A	ExAC,TOPMed,gnomAD
rs761804644	p.Phe446Leu	missense variant	-	CHR_HG1832_PATCH:g.210623616T>C	ExAC,TOPMed,gnomAD
rs751537022	p.Leu447Pro	missense variant	-	CHR_HG1832_PATCH:g.210623620T>C	ExAC,TOPMed
rs757163023	p.Gly448Glu	missense variant	-	CHR_HG1832_PATCH:g.210623623G>A	ExAC,TOPMed,gnomAD
rs1288194139	p.Gly448Arg	missense variant	-	CHR_HG1832_PATCH:g.210623622G>A	gnomAD
rs112551598	p.Gly449Asp	missense variant	-	CHR_HG1832_PATCH:g.210623626G>A	ESP,ExAC,TOPMed,gnomAD
rs147954610	p.Asn450Ser	missense variant	-	CHR_HG1832_PATCH:g.210623629A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1236467255	p.Asn450His	missense variant	-	CHR_HG1832_PATCH:g.210623628A>C	TOPMed
rs779017166	p.Gly453Arg	missense variant	-	CHR_HG1832_PATCH:g.210623637G>A	ExAC,TOPMed,gnomAD
rs544741245	p.Gly453Val	missense variant	-	CHR_HG1832_PATCH:g.210623638G>T	1000Genomes,ExAC,gnomAD
rs1231046147	p.Thr455Ser	missense variant	-	CHR_HG1832_PATCH:g.210623644C>G	gnomAD
rs1181369040	p.Thr455Ala	missense variant	-	CHR_HG1832_PATCH:g.210623643A>G	gnomAD
rs772114026	p.Tyr456His	missense variant	-	CHR_HG1832_PATCH:g.210623646T>C	ExAC,gnomAD
rs773398217	p.Trp457Ter	stop gained	-	CHR_HG1832_PATCH:g.210623651G>A	ExAC,gnomAD
rs1414852061	p.Asn458Thr	missense variant	-	CHR_HG1832_PATCH:g.210623653A>C	gnomAD
rs1404967475	p.Arg459Gly	missense variant	-	CHR_HG1832_PATCH:g.210623655A>G	TOPMed,gnomAD
rs1161817788	p.Ile460Met	missense variant	-	CHR_HG1832_PATCH:g.210623660C>G	gnomAD
rs747570787	p.Phe461Val	missense variant	-	CHR_HG1832_PATCH:g.210623661T>G	ExAC,gnomAD
rs372765603	p.Ile462Val	missense variant	-	CHR_HG1832_PATCH:g.210623664A>G	ESP,ExAC,TOPMed,gnomAD
rs759828685	p.Gln463His	missense variant	-	CHR_HG1832_PATCH:g.210623669A>C	ExAC,gnomAD
rs765617712	p.Gly464Ser	missense variant	-	CHR_HG1832_PATCH:g.210623670G>A	ExAC,TOPMed,gnomAD
rs1473013625	p.Gly464Ala	missense variant	-	CHR_HG1832_PATCH:g.210677645G>C	gnomAD
rs765617712	p.Gly464Arg	missense variant	-	CHR_HG1832_PATCH:g.210623670G>C	ExAC,TOPMed,gnomAD
rs1162782214	p.Pro466Ser	missense variant	-	CHR_HG1832_PATCH:g.210677650C>T	TOPMed,gnomAD
rs1162782214	p.Pro466Ala	missense variant	-	CHR_HG1832_PATCH:g.210677650C>G	TOPMed,gnomAD
rs766141146	p.Trp467Ter	stop gained	-	CHR_HG1832_PATCH:g.210677655G>A	ExAC,gnomAD
rs1341787711	p.Ser471Pro	missense variant	-	CHR_HG1832_PATCH:g.210677665T>C	TOPMed
rs1389282522	p.Tyr479Cys	missense variant	-	CHR_HG1832_PATCH:g.210677690A>G	gnomAD
rs778151421	p.Ser480Phe	missense variant	-	CHR_HG1832_PATCH:g.210677693C>T	ExAC,gnomAD
rs200853402	p.Val482Met	missense variant	-	CHR_HG1832_PATCH:g.210677698G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1489287557	p.Ile484Val	missense variant	-	CHR_HG1832_PATCH:g.210677704A>G	gnomAD
rs781297562	p.Ile484Thr	missense variant	-	CHR_HG1832_PATCH:g.210677705T>C	ExAC,gnomAD
rs145943928	p.Trp486Leu	missense variant	-	CHR_HG1832_PATCH:g.210677711G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs977412599	p.Ala487Thr	missense variant	-	CHR_HG1832_PATCH:g.210677713G>A	TOPMed
rs770356363	p.Thr489Ile	missense variant	-	CHR_HG1832_PATCH:g.210677720C>T	ExAC,gnomAD
rs770356363	p.Thr489Asn	missense variant	-	CHR_HG1832_PATCH:g.210677720C>A	ExAC,gnomAD
rs749666736	p.Ala491Thr	missense variant	-	CHR_HG1832_PATCH:g.210677725G>A	ExAC,TOPMed,gnomAD
rs1194243455	p.Ala491Val	missense variant	-	CHR_HG1832_PATCH:g.210677726C>T	gnomAD
rs148466987	p.Thr492Met	missense variant	-	CHR_HG1832_PATCH:g.210677729C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200680141	p.Asp493Asn	missense variant	-	CHR_HG1832_PATCH:g.210677731G>A	ExAC,TOPMed,gnomAD
rs1258511865	p.Asp493Glu	missense variant	-	CHR_HG1832_PATCH:g.210677733C>G	TOPMed

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0002395	Alzheimer's Disease	disease	BEFREE
C0005744	Blepharophimosis	disease	HPO
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0008924	Cleft upper lip	disease	BEFREE
C0013336	Dwarfism	disease	HPO
C0014306	Enophthalmos	disease	HPO
C0015934	Fetal Growth Retardation	phenotype	HPO
C0017658	Glomerulonephritis	disease	BEFREE
C0020496	Hyperostosis of skull	disease	HPO
C0021051	Immunologic Deficiency Syndromes	group	BEFREE
C0021296	Infant, Small for Gestational Age	phenotype	HPO
C0023269	leiomyosarcoma	disease	BEFREE
C0025007	Measles	disease	BEFREE
C0025202	melanoma	disease	BEFREE
C0025362	Mental Retardation	disease	HPO
C0025995	Micromelia	disease	HPO
C0026205	Miosis disorder	disease	HPO
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027819	Neuroblastoma	group	BEFREE
C0036341	Schizophrenia	disease	BEFREE;GWASCAT;GWASDB;PSYGENET
C0036875	Disorders of Sex Development	group	GENOMICS_ENGLAND
C0038013	Ankylosing spondylitis	disease	GWASCAT
C0038379	Strabismus	disease	HPO
C0041296	Tuberculosis	disease	BEFREE
C0149678	Epstein-Barr Virus Infections	group	BEFREE
C0149782	Squamous cell carcinoma of lung	disease	BEFREE
C0152421	Macrotia	disease	HPO
C0235974	Pancreatic carcinoma	disease	BEFREE
C0238198	Gastrointestinal Stromal Tumors	group	CTD_human
C0238395	Male Pseudohermaphroditism	disease	HPO
C0240896	Fundus coloboma	disease	HPO
C0280100	Solid Neoplasm	phenotype	BEFREE
C0302885	Testicular dysgenesis	disease	BEFREE
C0338656	Impaired cognition	disease	BEFREE
C0343284	Chondrodysplasia	disease	BEFREE
C0344539	Hypoplasia of iris	disease	HPO
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0423113	Telecanthus	phenotype	HPO
C0423224	Sunken eyes	phenotype	HPO
C0423903	Low intelligence	phenotype	HPO
C0424688	Small head	phenotype	HPO
C0426790	Narrow thorax	phenotype	HPO
C0524910	Hepatitis C, Chronic	disease	BEFREE
C0554972	Large auricle	phenotype	HPO
C0596263	Carcinogenesis	phenotype	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0700095	Central neuroblastoma	disease	BEFREE
C0877165	Short phalanx of finger	phenotype	HPO
C0917816	Mental deficiency	disease	HPO
C1270972	Mild cognitive disorder	disease	BEFREE
C1304456	Congo hemorrhagic fever	disease	BEFREE
C1335302	Pancreatic Ductal Adenocarcinoma	disease	BEFREE
C1386048	Intrauterine retardation	phenotype	HPO
C1837084	Short metacarpal	phenotype	HPO
C1838654	Nivelon Nivelon Mabille syndrome	disease	MGD;ORPHANET
C1843367	Poor school performance	phenotype	HPO
C1850189	Large pinnae	phenotype	HPO
C1851710	LATERAL MENINGOCELE SYNDROME	disease	BEFREE
C1863753	LIMB-MAMMARY SYNDROME	disease	BEFREE
C2607914	Allergic rhinitis (disorder)	disease	BEFREE
C3179349	Gastrointestinal Stromal Sarcoma	disease	CTD_human
C3714756	Intellectual Disability	group	BEFREE;HPO
C4020847	Abnormality of pelvic girdle bone morphology	phenotype	HPO
C4020876	Dull intelligence	phenotype	HPO
C4021630	Broad long bones	phenotype	HPO
C4025659	Abnormality of the shoulder	phenotype	HPO
C4025793	Brain very small	phenotype	HPO
C4072850	Increased calcification of skull	phenotype	HPO
C4072851	Increased Mineralization of skull	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005525	GTP binding	IEA
GO:0008374	O-acyltransferase activity	TAS
GO:0016409	palmitoyltransferase activity	IBA
GO:0016746	transferase activity, transferring acyl groups	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0007224	smoothened signaling pathway	IEA
GO:0007275	multicellular organism development	IEA
GO:0018345	protein palmitoylation	IBA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005783	endoplasmic reticulum	IBA
GO:0005789	endoplasmic reticulum membrane	TAS
GO:0016021	integral component of membrane	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-1643685	Disease	TAS
R-HSA-5358346	Hedgehog ligand biogenesis	TAS
R-HSA-5358351	Signaling by Hedgehog	TAS
R-HSA-5387390	Hh mutants abrogate ligand secretion	TAS
R-HSA-5658034	HHAT G278V abrogates palmitoylation of Hh-Np	TAS
R-HSA-5663202	Diseases of signal transduction	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat 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 decreased expression of HHAT mRNA	27188386
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of HHAT mRNA	26238291
D016604	Aflatoxin B1	Aflatoxin B1 affects the expression of HHAT protein	20106945
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of HHAT mRNA	22100608
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of HHAT intron	30157460
C029753	aflatoxin B2	aflatoxin B2 affects the methylation of HHAT intron	30157460
D001151	Arsenic	Arsenic affects the methylation of HHAT gene	25304211
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the expression of HHAT mRNA	20106945; 21632981; 22316170;
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of HHAT intron	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of HHAT mRNA	20064835; 26238291;
C006780	bisphenol A	bisphenol A results in decreased expression of HHAT mRNA	25181051
C018475	butyraldehyde	butyraldehyde results in decreased expression of HHAT mRNA	26079696
D002330	Carmustine	HHAT mRNA affects the susceptibility to Carmustine	16365179
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of HHAT gene	20938992
D002945	Cisplatin	Cisplatin results in increased expression of HHAT mRNA	27392435
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of HHAT mRNA	19549813
D016572	Cyclosporine	Cyclosporine results in decreased expression of HHAT mRNA	20106945
D003703	Demecolcine	Demecolcine results in increased expression of HHAT mRNA	23649840
D003907	Dexamethasone	Dexamethasone results in increased expression of HHAT mRNA	22733784
C000944	dicrotophos	dicrotophos results in decreased expression of HHAT mRNA	28302478
C516138	dorsomorphin	[NOG protein co-treated with entinostat 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 decreased expression of HHAT mRNA	27188386
C118739	entinostat	entinostat results in decreased expression of HHAT mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat 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 decreased expression of HHAT mRNA	27188386
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in increased expression of HHAT mRNA	23649840
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of HHAT gene	20938992
D005557	Formaldehyde	Formaldehyde results in increased expression of HHAT mRNA	23649840
C010974	glyphosate	glyphosate results in increased methylation of HHAT gene	31011160
D006861	Hydrogen Peroxide	Hydrogen Peroxide affects the expression of HHAT mRNA	20044591
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of HHAT gene	20938992
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of HHAT mRNA	26011545
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of HHAT mRNA	23649840
D012834	Silver	Silver results in increased expression of HHAT mRNA	27131904
C017947	sodium arsenite	sodium arsenite results in decreased expression of HHAT mRNA	29361514
D000077204	Temozolomide	HHAT mRNA affects the susceptibility to Temozolomide	16365179
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of HHAT mRNA	20106945; 21632981;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of HHAT mRNA	21570461
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of HHAT mRNA	27913140
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of HHAT mRNA	28065790
D014635	Valproic Acid	Valproic Acid affects the expression of HHAT mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of HHAT mRNA	28001369
D014635	Valproic Acid	Valproic Acid results in decreased methylation of HHAT gene	29154799
D001335	Vehicle Emissions	Vehicle Emissions affects the methylation of HHAT gene	25560391
D014750	Vincristine	Vincristine results in increased expression of HHAT mRNA	23649840

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0012	Acyltransferase
KW-0025	Alternative splicing
KW-0217	Developmental protein
KW-0256	Endoplasmic reticulum
KW-0342	GTP-binding
KW-0449	Lipoprotein
KW-0472	Membrane
KW-0547	Nucleotide-binding
KW-0564	Palmitate
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0808	Transferase
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR032981	HHAT
IPR004299	MBOAT_fam

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF03062	MBOAT

Gene: HHAT

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-miRNA interaction