CleftGeneDB-Search

Gene: PAK1IP1

Basic information

Tag	Content
Uniprot ID	Q9NWT1; Q5T4J2; Q96QJ8; Q96T87;
Entrez ID	55003
Genbank protein ID	AAH10907.1; AAK57477.1; BAA91296.1;
Genbank nucleotide ID	NM_017906.2
Ensembl protein ID	ENSP00000368887; ENSP00000496482;
Ensembl nucleotide ID	ENSG00000285226; ENSG00000111845;
Gene name	p21-activated protein kinase-interacting protein 1
Gene symbol	PAK1IP1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Negatively regulates the PAK1 kinase. PAK1 is a member of the PAK kinase family, which has been shown to play a positive role in the regulation of signaling pathways involving MAPK8 and RELA. PAK1 exists as an inactive homodimer, which is activated by binding of small GTPases such as CDC42 to an N-terminal regulatory domain. PAK1IP1 also binds to the N-terminus of PAK1, and inhibits the specific activation of PAK1 by CDC42. May be involved in ribosomal large subunit assembly (PubMed:24120868).
Sequence	MELVAGCYEQ VLFGFAVHPE PEACGDHEQW TLVADFTHHA HTASLSAVAV NSRFVVTGSK 60 DETIHIYDMK KKIEHGALVH HSGTITCLKF YGNRHLISGA EDGLICIWDA KKWECLKSIK 120 AHKGQVTFLS IHPSGKLALS VGTDKTLRTW NLVEGRSAFI KNIKQNAHIV EWSPRGEQYV 180 VIIQNKIDIY QLDTASISGT ITNEKRISSV KFLSESVLAV AGDEEVIRFF DCDSLVCLCE 240 FKAHENRVKD MFSFEIPEHH VIVSASSDGF IKMWKLKQDK KVPPSLLCEI NTNARLTCLG 300 VWLDKVADMK ESLPPAAEPS PVSKEQSKIG KKEPGDTVHK EEKRSKPNTK KRGLTGDSKK 360 ATKESGLIST KKRKMVEMLE KKRKKKKIKT MQ 392

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	PAK1IP1	102178321	A0A452FB78		Capra hircus	Prediction	More>>
1:1 ortholog	PAK1IP1	55003	Q9NWT1		Homo sapiens	Prediction	More>>
1:1 ortholog	Pak1ip1	68083	Q9DCE5	CPO	Mus musculus	Publication	More>>
1:1 ortholog	PAK1IP1	463143	H2QSA5		Pan troglodytes	Prediction	More>>
1:1 ortholog	PAK1IP1		K7GSP8		Sus scrofa	Prediction	More>>
1:1 ortholog	PAK1IP1	100357229	G1T599		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Pak1ip1	361232	Q32PZ0		Rattus norvegicus	Prediction	More>>
1:1 ortholog	pak1ip1	336470	Q6TNS2		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1189481622	p.Leu3Val	missense variant	-	NC_000006.12:g.10694992C>G	TOPMed
rs763848894	p.Val4Phe	missense variant	-	NC_000006.12:g.10694995G>T	ExAC,gnomAD
rs757088413	p.Ala5Pro	missense variant	-	NC_000006.12:g.10694998G>C	ExAC,TOPMed,gnomAD
rs757088413	p.Ala5Ser	missense variant	-	NC_000006.12:g.10694998G>T	ExAC,TOPMed,gnomAD
rs200871118	p.Gly6Cys	missense variant	-	NC_000006.12:g.10695001G>T	ExAC,TOPMed,gnomAD
rs1361731562	p.Tyr8Ter	stop gained	-	NC_000006.12:g.10695009C>A	gnomAD
rs1361731562	p.Tyr8Ter	stop gained	-	NC_000006.12:g.10695009C>G	gnomAD
rs371781516	p.Glu9Gln	missense variant	-	NC_000006.12:g.10695010G>C	ESP,ExAC,TOPMed,gnomAD
rs371781516	p.Glu9Lys	missense variant	-	NC_000006.12:g.10695010G>A	ESP,ExAC,TOPMed,gnomAD
rs1182004409	p.Glu9Asp	missense variant	-	NC_000006.12:g.10695012G>T	gnomAD
rs756176747	p.Gln10Glu	missense variant	-	NC_000006.12:g.10695013C>G	ExAC,TOPMed,gnomAD
rs376060945	p.Gln10His	missense variant	-	NC_000006.12:g.10695015G>C	ESP,TOPMed
rs1299991263	p.Val11Ile	missense variant	-	NC_000006.12:g.10695016G>A	TOPMed
rs915535382	p.Phe13Tyr	missense variant	-	NC_000006.12:g.10695023T>A	TOPMed,gnomAD
rs915535382	p.Phe13Ser	missense variant	-	NC_000006.12:g.10695023T>C	TOPMed,gnomAD
rs915535382	p.Phe13Cys	missense variant	-	NC_000006.12:g.10695023T>G	TOPMed,gnomAD
rs780256684	p.Phe13Val	missense variant	-	NC_000006.12:g.10695022T>G	ExAC,TOPMed,gnomAD
rs1467643460	p.Gly14Val	missense variant	-	NC_000006.12:g.10695026G>T	gnomAD
rs1171955323	p.Val17Leu	missense variant	-	NC_000006.12:g.10695034G>C	gnomAD
rs749417108	p.His18Tyr	missense variant	-	NC_000006.12:g.10695037C>T	ExAC,gnomAD
rs1341888426	p.Glu20Asp	missense variant	-	NC_000006.12:g.10695045G>C	gnomAD
rs1331835439	p.Glu20Ala	missense variant	-	NC_000006.12:g.10695044A>C	TOPMed,gnomAD
rs1448195071	p.Pro21Ser	missense variant	-	NC_000006.12:g.10695046C>T	gnomAD
rs774651899	p.Pro21Leu	missense variant	-	NC_000006.12:g.10695047C>T	ExAC,gnomAD
rs772493979	p.Glu22Asp	missense variant	-	NC_000006.12:g.10695051G>C	ExAC,gnomAD
rs761160420	p.Cys24Phe	missense variant	-	NC_000006.12:g.10695056G>T	ExAC,gnomAD
rs1198486289	p.Asp26Asn	missense variant	-	NC_000006.12:g.10695061G>A	gnomAD
rs1339009310	p.Asp26Gly	missense variant	-	NC_000006.12:g.10695062A>G	TOPMed
NCI-TCGA novel	p.Glu28Gln	missense variant	-	NC_000006.12:g.10695067G>C	NCI-TCGA
COSM4187820	p.Glu28Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10695067G>A	NCI-TCGA Cosmic
rs1008791325	p.Trp30Ter	stop gained	-	NC_000006.12:g.10697329G>A	TOPMed
rs777145719	p.Thr31Ile	missense variant	-	NC_000006.12:g.10697331C>T	ExAC,TOPMed,gnomAD
rs777145719	p.Thr31Ser	missense variant	-	NC_000006.12:g.10697331C>G	ExAC,TOPMed,gnomAD
rs1381378465	p.Val33Glu	missense variant	-	NC_000006.12:g.10697337T>A	gnomAD
NCI-TCGA novel	p.Val33Met	missense variant	-	NC_000006.12:g.10697336G>A	NCI-TCGA
rs1385034760	p.Asp35Gly	missense variant	-	NC_000006.12:g.10697343A>G	gnomAD
rs1325385485	p.Phe36Ile	missense variant	-	NC_000006.12:g.10697345T>A	gnomAD
rs369987329	p.Phe36Leu	missense variant	-	NC_000006.12:g.10697347C>A	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Phe36Val	missense variant	-	NC_000006.12:g.10697345T>G	NCI-TCGA
rs768207218	p.His38Tyr	missense variant	-	NC_000006.12:g.10697351C>T	ExAC,gnomAD
NCI-TCGA novel	p.His39Leu	missense variant	-	NC_000006.12:g.10697355A>T	NCI-TCGA
rs370701797	p.Val48Ile	missense variant	-	NC_000006.12:g.10697381G>A	ExAC,TOPMed,gnomAD
rs946134331	p.Ala49Thr	missense variant	-	NC_000006.12:g.10697384G>A	TOPMed,gnomAD
rs946134331	p.Ala49Pro	missense variant	-	NC_000006.12:g.10697384G>C	TOPMed,gnomAD
rs1437657134	p.Val50Ile	missense variant	-	NC_000006.12:g.10697387G>A	gnomAD
rs1177158343	p.Ser52Asn	missense variant	-	NC_000006.12:g.10697394G>A	gnomAD
rs1041702774	p.Arg53Pro	missense variant	-	NC_000006.12:g.10697397G>C	TOPMed,gnomAD
rs1041702774	p.Arg53His	missense variant	-	NC_000006.12:g.10697397G>A	TOPMed,gnomAD
rs1158757669	p.Val55Leu	missense variant	-	NC_000006.12:g.10697402G>T	TOPMed
NCI-TCGA novel	p.Val55Met	missense variant	-	NC_000006.12:g.10697402G>A	NCI-TCGA
rs1158809032	p.Val56Leu	missense variant	-	NC_000006.12:g.10697405G>C	gnomAD
NCI-TCGA novel	p.Thr57Pro	missense variant	-	NC_000006.12:g.10697408A>C	NCI-TCGA
rs1183140580	p.Lys60Asn	missense variant	-	NC_000006.12:g.10697419A>T	TOPMed
rs139672454	p.Lys60Arg	missense variant	-	NC_000006.12:g.10697418A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp61Tyr	missense variant	-	NC_000006.12:g.10697420G>T	NCI-TCGA
NCI-TCGA novel	p.Glu62Gln	missense variant	-	NC_000006.12:g.10697423G>C	NCI-TCGA
rs1035406624	p.Ile66Val	missense variant	-	NC_000006.12:g.10697435A>G	TOPMed,gnomAD
rs149772832	p.Tyr67Cys	missense variant	-	NC_000006.12:g.10697439A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs754942039	p.Tyr67His	missense variant	-	NC_000006.12:g.10697438T>C	ExAC,gnomAD
rs149772832	p.Tyr67Ser	missense variant	-	NC_000006.12:g.10697439A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs988335577	p.Asp68Glu	missense variant	-	NC_000006.12:g.10697443C>G	TOPMed
rs752771472	p.Met69Ile	missense variant	-	NC_000006.12:g.10697446G>A	ExAC
rs758617036	p.Lys70Arg	missense variant	-	NC_000006.12:g.10697448A>G	ExAC,gnomAD
rs1329060208	p.Lys71Arg	missense variant	-	NC_000006.12:g.10697451A>G	gnomAD
rs1378751120	p.Ile73Thr	missense variant	-	NC_000006.12:g.10697457T>C	gnomAD
rs778004073	p.Ile73Met	missense variant	-	NC_000006.12:g.10697458T>G	ExAC,gnomAD
rs781604474	p.His75Pro	missense variant	-	NC_000006.12:g.10697463A>C	ExAC,gnomAD
rs771299681	p.His75Asn	missense variant	-	NC_000006.12:g.10697462C>A	ExAC,TOPMed,gnomAD
rs746373040	p.Leu78Val	missense variant	-	NC_000006.12:g.10697471C>G	ExAC,gnomAD
rs1339292795	p.Val79Met	missense variant	-	NC_000006.12:g.10697474G>A	gnomAD
rs770251781	p.Val79Ala	missense variant	-	NC_000006.12:g.10697475T>C	ExAC,gnomAD
rs773879151	p.His80Pro	missense variant	-	NC_000006.12:g.10697478A>C	ExAC,gnomAD
rs773879151	p.His80Arg	missense variant	-	NC_000006.12:g.10697478A>G	ExAC,gnomAD
rs1458453525	p.His81Tyr	missense variant	-	NC_000006.12:g.10697480C>T	gnomAD
rs757532852	p.Thr84Ile	missense variant	-	NC_000006.12:g.10702372C>T	ExAC,gnomAD
rs751776397	p.Thr84Ala	missense variant	-	NC_000006.12:g.10702371A>G	ExAC,gnomAD
rs751776397	p.Thr84Ala	missense variant	-	NC_000006.12:g.10702371A>G	NCI-TCGA,NCI-TCGA Cosmic
rs1256283696	p.Ile85Val	missense variant	-	NC_000006.12:g.10702374A>G	gnomAD
rs998869219	p.Thr86Ile	missense variant	-	NC_000006.12:g.10702378C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Lys89Gln	missense variant	-	NC_000006.12:g.10702386A>C	NCI-TCGA
rs756602288	p.Tyr91Ter	stop gained	-	NC_000006.12:g.10702394T>A	ExAC,TOPMed,gnomAD
rs746255966	p.Tyr91Cys	missense variant	-	NC_000006.12:g.10702393A>G	ExAC,TOPMed,gnomAD
rs1486906066	p.Gly92Asp	missense variant	-	NC_000006.12:g.10702396G>A	TOPMed
rs1478065056	p.His95Leu	missense variant	-	NC_000006.12:g.10702405A>T	TOPMed,gnomAD
rs1478065056	p.His95Arg	missense variant	-	NC_000006.12:g.10702405A>G	TOPMed,gnomAD
rs1209913480	p.Leu96Phe	missense variant	-	NC_000006.12:g.10702409A>C	gnomAD
rs1487800692	p.Ile97Asn	missense variant	-	NC_000006.12:g.10702411T>A	TOPMed
rs543079611	p.Ala100Val	missense variant	-	NC_000006.12:g.10702420C>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Glu101Lys	missense variant	-	NC_000006.12:g.10702422G>A	NCI-TCGA
rs576346939	p.Leu104Phe	missense variant	-	NC_000006.12:g.10702431C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1456160523	p.Leu104Pro	missense variant	-	NC_000006.12:g.10702432T>C	gnomAD
rs1398190019	p.Asp109Ala	missense variant	-	NC_000006.12:g.10702447A>C	TOPMed,gnomAD
rs1398190019	p.Asp109Val	missense variant	-	NC_000006.12:g.10702447A>T	TOPMed,gnomAD
rs1360031821	p.Asp109Asn	missense variant	-	NC_000006.12:g.10702446G>A	gnomAD
rs1280719286	p.Ala110Val	missense variant	-	NC_000006.12:g.10702450C>T	gnomAD
COSM1071794	p.Lys111Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10702454G>T	NCI-TCGA Cosmic
rs1341663907	p.Lys112Gln	missense variant	-	NC_000006.12:g.10702455A>C	gnomAD
rs1226070786	p.Trp113Leu	missense variant	-	NC_000006.12:g.10702459G>T	TOPMed
rs954230160	p.Glu114Lys	missense variant	-	NC_000006.12:g.10702461G>A	TOPMed,gnomAD
rs770759731	p.Cys115Ser	missense variant	-	NC_000006.12:g.10702465G>C	ExAC,gnomAD
rs759283569	p.Leu116Pro	missense variant	-	NC_000006.12:g.10702468T>C	ExAC,TOPMed,gnomAD
rs775304872	p.Ser118Ala	missense variant	-	NC_000006.12:g.10702473T>G	ExAC,TOPMed,gnomAD
rs1305319312	p.Lys120Asn	missense variant	-	NC_000006.12:g.10702481A>C	TOPMed
rs1213806151	p.Ala121Val	missense variant	-	NC_000006.12:g.10702483C>T	gnomAD
rs933583838	p.His122Pro	missense variant	-	NC_000006.12:g.10702486A>C	TOPMed
rs775412822	p.Lys123Asn	missense variant	-	NC_000006.12:g.10702565A>C	ExAC,gnomAD
rs62621438	p.Gly124Arg	missense variant	-	NC_000006.12:g.10702566G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs551247280	p.Val126Leu	missense variant	-	NC_000006.12:g.10702572G>T	ExAC,TOPMed,gnomAD
rs200433932	p.Leu129Phe	missense variant	-	NC_000006.12:g.10702581C>T	1000Genomes,ExAC,gnomAD
rs548226729	p.His132Gln	missense variant	-	NC_000006.12:g.10702592C>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.His132ThrPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.10702589_10702590insA	NCI-TCGA
rs569689711	p.Pro133Ser	missense variant	-	NC_000006.12:g.10702593C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs754307959	p.Pro133Leu	missense variant	-	NC_000006.12:g.10702594C>T	ExAC,gnomAD
rs569689711	p.Pro133Ala	missense variant	-	NC_000006.12:g.10702593C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1444149658	p.Ser134Cys	missense variant	-	NC_000006.12:g.10702597C>G	gnomAD
rs1310941584	p.Gly135Ser	missense variant	-	NC_000006.12:g.10702599G>A	gnomAD
rs755512237	p.Leu137Val	missense variant	-	NC_000006.12:g.10702605T>G	ExAC
rs1463974352	p.Ala138Val	missense variant	-	NC_000006.12:g.10702609C>T	TOPMed
rs1048882804	p.Ala138Thr	missense variant	-	NC_000006.12:g.10702608G>A	TOPMed
rs1277010938	p.Leu139Pro	missense variant	-	NC_000006.12:g.10702612T>C	gnomAD
rs1350809622	p.Ser140Leu	missense variant	-	NC_000006.12:g.10702615C>T	gnomAD
COSM6172247	p.Ser140Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.10702615C>A	NCI-TCGA Cosmic
rs141357694	p.Val141Ala	missense variant	-	NC_000006.12:g.10702618T>C	ESP,TOPMed,gnomAD
rs751066241	p.Val141Ile	missense variant	-	NC_000006.12:g.10702617G>A	ExAC,gnomAD
rs780830226	p.Thr143Lys	missense variant	-	NC_000006.12:g.10702624C>A	ExAC,TOPMed,gnomAD
rs1037020277	p.Asp144Gly	missense variant	-	NC_000006.12:g.10702627A>G	TOPMed
rs1258335016	p.Thr146Ala	missense variant	-	NC_000006.12:g.10702632A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Leu147Val	missense variant	-	NC_000006.12:g.10702635T>G	NCI-TCGA
rs753133647	p.Thr149Met	missense variant	-	NC_000006.12:g.10703407C>T	ExAC,TOPMed,gnomAD
rs1226158270	p.Leu152Pro	missense variant	-	NC_000006.12:g.10703416T>C	TOPMed
rs972279400	p.Val153Ile	missense variant	-	NC_000006.12:g.10703418G>A	TOPMed,gnomAD
rs972279400	p.Val153Leu	missense variant	-	NC_000006.12:g.10703418G>T	TOPMed,gnomAD
rs765782849	p.Arg156Gly	missense variant	-	NC_000006.12:g.10703427A>G	ExAC,gnomAD
rs753261456	p.Arg156Ile	missense variant	-	NC_000006.12:g.10703428G>T	ExAC,TOPMed,gnomAD
rs753261456	p.Arg156Lys	missense variant	-	NC_000006.12:g.10703428G>A	ExAC,TOPMed,gnomAD
rs1401875316	p.Ile160Val	missense variant	-	NC_000006.12:g.10703439A>G	gnomAD
rs559977553	p.Lys161Arg	missense variant	-	NC_000006.12:g.10703443A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1338913716	p.Asn162Tyr	missense variant	-	NC_000006.12:g.10703445A>T	TOPMed
rs530364577	p.Asn162Thr	missense variant	-	NC_000006.12:g.10703446A>C	1000Genomes,ExAC,gnomAD
rs1305414182	p.Lys164Glu	missense variant	-	NC_000006.12:g.10703451A>G	TOPMed
rs1360431859	p.Lys164Asn	missense variant	-	NC_000006.12:g.10703453A>C	gnomAD
rs1360431859	p.Lys164Asn	missense variant	-	NC_000006.12:g.10703453A>C	NCI-TCGA
rs1414843182	p.Gln165Glu	missense variant	-	NC_000006.12:g.10703454C>G	gnomAD
rs764693083	p.Ala167Ser	missense variant	-	NC_000006.12:g.10704509G>T	ExAC,gnomAD
COSM1329371	p.Ala167Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10704509G>A	NCI-TCGA Cosmic
rs1318841475	p.His168Arg	missense variant	-	NC_000006.12:g.10704513A>G	gnomAD
rs1230758231	p.Ile169Met	missense variant	-	NC_000006.12:g.10704517A>G	gnomAD
rs1406046644	p.Ile169Val	missense variant	-	NC_000006.12:g.10704515A>G	TOPMed
rs749851403	p.Ile169Thr	missense variant	-	NC_000006.12:g.10704516T>C	ExAC,gnomAD
rs938084538	p.Val170Glu	missense variant	-	NC_000006.12:g.10704519T>A	gnomAD
rs1239627967	p.Trp172Ter	stop gained	-	NC_000006.12:g.10704525G>A	gnomAD
rs201862329	p.Trp172Cys	missense variant	-	NC_000006.12:g.10704526G>C	ExAC,gnomAD
rs1348879251	p.Trp172Arg	missense variant	-	NC_000006.12:g.10704524T>C	gnomAD
rs765946190	p.Ser173Thr	missense variant	-	NC_000006.12:g.10704527T>A	ExAC,gnomAD
rs753482373	p.Pro174Leu	missense variant	-	NC_000006.12:g.10704531C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro174Thr	missense variant	-	NC_000006.12:g.10704530C>A	NCI-TCGA
rs753482373	p.Pro174Leu	missense variant	-	NC_000006.12:g.10704531C>T	NCI-TCGA
rs754679174	p.Gly176Arg	missense variant	-	NC_000006.12:g.10704536G>A	ExAC,TOPMed,gnomAD
rs754679174	p.Gly176Arg	missense variant	-	NC_000006.12:g.10704536G>C	ExAC,TOPMed,gnomAD
rs778660768	p.Gly176Glu	missense variant	-	NC_000006.12:g.10704537G>A	ExAC,TOPMed,gnomAD
rs748018921	p.Glu177Asp	missense variant	-	NC_000006.12:g.10704541G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu177Gln	missense variant	-	NC_000006.12:g.10704539G>C	NCI-TCGA
rs1454457308	p.Tyr179His	missense variant	-	NC_000006.12:g.10704545T>C	gnomAD
rs375444258	p.Val180Leu	missense variant	-	NC_000006.12:g.10704548G>T	ESP,ExAC,TOPMed,gnomAD
rs770529700	p.Ile182Thr	missense variant	-	NC_000006.12:g.10704555T>C	gnomAD
rs916074390	p.Ile183Met	missense variant	-	NC_000006.12:g.10704559A>G	TOPMed
rs771049452	p.Gln184Ter	stop gained	-	NC_000006.12:g.10704560C>T	ExAC,gnomAD
COSM1071796	p.Lys186Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10704567A>C	NCI-TCGA Cosmic
rs775957449	p.Ile189Met	missense variant	-	NC_000006.12:g.10704577C>G	ExAC,TOPMed,gnomAD
rs141123017	p.Ile189Thr	missense variant	-	NC_000006.12:g.10704576T>C	1000Genomes,ExAC,gnomAD
rs201625393	p.Ile189Val	missense variant	-	NC_000006.12:g.10704575A>G	ESP,ExAC,TOPMed,gnomAD
rs764449402	p.Tyr190His	missense variant	-	NC_000006.12:g.10704578T>C	ExAC,TOPMed,gnomAD
rs762291816	p.Tyr190Cys	missense variant	-	NC_000006.12:g.10704579A>G	ExAC,TOPMed,gnomAD
rs764449402	p.Tyr190Asn	missense variant	-	NC_000006.12:g.10704578T>A	ExAC,TOPMed,gnomAD
rs1261693949	p.Thr194Ile	missense variant	-	NC_000006.12:g.10704591C>T	gnomAD
rs929059408	p.Ala195Val	missense variant	-	NC_000006.12:g.10704594C>T	TOPMed,gnomAD
rs765857722	p.Ser196Pro	missense variant	-	NC_000006.12:g.10704596T>C	ExAC,gnomAD
rs145305623	p.Ser198Asn	missense variant	-	NC_000006.12:g.10704603G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145305623	p.Ser198Ile	missense variant	-	NC_000006.12:g.10704603G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs754597395	p.Thr200Ile	missense variant	-	NC_000006.12:g.10704609C>T	ExAC,TOPMed,gnomAD
rs1177665734	p.Ile201Thr	missense variant	-	NC_000006.12:g.10704612T>C	gnomAD
rs1427729335	p.Ile201Met	missense variant	-	NC_000006.12:g.10704613C>G	TOPMed
NCI-TCGA novel	p.Glu204Ter	stop gained	-	NC_000006.12:g.10704620G>T	NCI-TCGA
NCI-TCGA novel	p.Arg206Ile	missense variant	-	NC_000006.12:g.10704627G>T	NCI-TCGA
rs1268338228	p.Ile207Met	missense variant	-	NC_000006.12:g.10704631T>G	TOPMed,gnomAD
rs1235951252	p.Ile207Asn	missense variant	-	NC_000006.12:g.10704630T>A	gnomAD
rs374642668	p.Ser208Phe	missense variant	-	NC_000006.12:g.10704633C>T	ESP,ExAC,TOPMed,gnomAD
rs1456355850	p.Leu213Ile	missense variant	-	NC_000006.12:g.10704647C>A	gnomAD
rs1456355850	p.Leu213Ile	missense variant	-	NC_000006.12:g.10704647C>A	NCI-TCGA Cosmic
rs112971132	p.Glu215Asp	missense variant	-	NC_000006.12:g.10704749G>T	TOPMed
rs1462708228	p.Glu215Lys	missense variant	-	NC_000006.12:g.10704747G>A	gnomAD
rs759073628	p.Glu215Gly	missense variant	-	NC_000006.12:g.10704748A>G	ExAC,gnomAD
rs1042628376	p.Val220Met	missense variant	-	NC_000006.12:g.10704762G>A	TOPMed
rs1340442424	p.Asp223Glu	missense variant	-	NC_000006.12:g.10704773T>G	gnomAD
rs762579782	p.Asp223Gly	missense variant	-	NC_000006.12:g.10704772A>G	ExAC,gnomAD
rs903255182	p.Glu225Val	missense variant	-	NC_000006.12:g.10704778A>T	TOPMed,gnomAD
rs751362115	p.Ile227Lys	missense variant	-	NC_000006.12:g.10704784T>A	ExAC,TOPMed,gnomAD
rs751362115	p.Ile227Thr	missense variant	-	NC_000006.12:g.10704784T>C	ExAC,TOPMed,gnomAD
rs1248330092	p.Phe230Leu	missense variant	-	NC_000006.12:g.10704794T>G	TOPMed
NCI-TCGA novel	p.Phe230LeuPheSerTerUnk	frameshift	-	NC_000006.12:g.10704789T>-	NCI-TCGA
COSM3429824	p.Phe230Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10704792T>C	NCI-TCGA Cosmic
rs1227761972	p.Asp231Tyr	missense variant	-	NC_000006.12:g.10704795G>T	gnomAD
rs757218948	p.Asp231Val	missense variant	-	NC_000006.12:g.10704796A>T	ExAC,gnomAD
rs1482023186	p.Cys232Arg	missense variant	-	NC_000006.12:g.10704798T>C	TOPMed,gnomAD
rs781299034	p.Cys232Tyr	missense variant	-	NC_000006.12:g.10704799G>A	ExAC,gnomAD
rs1035653928	p.Asp233Asn	missense variant	-	NC_000006.12:g.10704801G>A	TOPMed
rs960066635	p.Leu235Val	missense variant	-	NC_000006.12:g.10704807C>G	TOPMed
rs756266685	p.Leu235Pro	missense variant	-	NC_000006.12:g.10704808T>C	ExAC,TOPMed,gnomAD
rs780060997	p.Val236Ala	missense variant	-	NC_000006.12:g.10704811T>C	ExAC,gnomAD
rs1479490155	p.Cys237Tyr	missense variant	-	NC_000006.12:g.10704814G>A	TOPMed
rs1479490155	p.Cys237Tyr	missense variant	-	NC_000006.12:g.10704814G>A	NCI-TCGA
rs1211316676	p.Leu238Phe	missense variant	-	NC_000006.12:g.10704816C>T	TOPMed
rs1175682038	p.Glu240Lys	missense variant	-	NC_000006.12:g.10704822G>A	TOPMed,gnomAD
rs1175682038	p.Glu240Lys	missense variant	-	NC_000006.12:g.10704822G>A	NCI-TCGA Cosmic
rs768806860	p.Lys242Arg	missense variant	-	NC_000006.12:g.10704829A>G	ExAC,gnomAD
rs1436731359	p.Ala243Val	missense variant	-	NC_000006.12:g.10704832C>T	gnomAD
COSM3619246	p.His244Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10704834C>T	NCI-TCGA Cosmic
rs1389597755	p.Val248Leu	missense variant	-	NC_000006.12:g.10707416G>T	TOPMed
rs970831289	p.Glu255Val	missense variant	-	NC_000006.12:g.10707438A>T	TOPMed
NCI-TCGA novel	p.Glu255Gln	missense variant	-	NC_000006.12:g.10707437G>C	NCI-TCGA
rs780155614	p.Pro257Ala	missense variant	-	NC_000006.12:g.10707443C>G	ExAC,TOPMed,gnomAD
rs780155614	p.Pro257Ser	missense variant	-	NC_000006.12:g.10707443C>T	ExAC,TOPMed,gnomAD
COSM3975708	p.Glu258Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10707446G>A	NCI-TCGA Cosmic
COSM6104975	p.Glu258Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10707446G>C	NCI-TCGA Cosmic
rs774340999	p.His259Arg	missense variant	-	NC_000006.12:g.10707450A>G	ExAC,TOPMed,gnomAD
rs1317445830	p.His259Tyr	missense variant	-	NC_000006.12:g.10707449C>T	TOPMed,gnomAD
rs926366590	p.His260Tyr	missense variant	-	NC_000006.12:g.10707452C>T	TOPMed,gnomAD
rs1469627432	p.Val261Leu	missense variant	-	NC_000006.12:g.10707455G>C	gnomAD
COSM3828722	p.Val261Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10707456T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser264Ter	stop gained	-	NC_000006.12:g.10707465C>G	NCI-TCGA
rs779029025	p.Ala265Val	missense variant	-	NC_000006.12:g.10707468C>T	ExAC,gnomAD
rs778178362	p.Ser267Asn	missense variant	-	NC_000006.12:g.10707474G>A	ExAC,gnomAD
COSM1071800	p.Ile271Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10707486T>C	NCI-TCGA Cosmic
rs1179031663	p.Lys272Arg	missense variant	-	NC_000006.12:g.10707489A>G	gnomAD
rs747502007	p.Met273Ile	missense variant	-	NC_000006.12:g.10707493G>T	ExAC,gnomAD
rs771392427	p.Lys275Thr	missense variant	-	NC_000006.12:g.10707498A>C	ExAC
rs748769773	p.Asp279Gly	missense variant	-	NC_000006.12:g.10707510A>G	ExAC,gnomAD
rs748769773	p.Asp279Val	missense variant	-	NC_000006.12:g.10707510A>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp279Asn	missense variant	-	NC_000006.12:g.10707509G>A	NCI-TCGA
rs543748909	p.Lys280Glu	missense variant	-	NC_000006.12:g.10707512A>G	1000Genomes,ExAC,gnomAD
rs1330440499	p.Lys281Gln	missense variant	-	NC_000006.12:g.10708953A>C	gnomAD
rs774061851	p.Lys281Arg	missense variant	-	NC_000006.12:g.10708954A>G	ExAC,gnomAD
rs150098092	p.Val282Ala	missense variant	-	NC_000006.12:g.10708957T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1446641274	p.Val282Ile	missense variant	-	NC_000006.12:g.10708956G>A	TOPMed,gnomAD
COSM1071802	p.Val282Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10708956G>T	NCI-TCGA Cosmic
rs988724197	p.Pro284Ser	missense variant	-	NC_000006.12:g.10708962C>T	TOPMed
rs1301929326	p.Leu286Ser	missense variant	-	NC_000006.12:g.10708969T>C	TOPMed
rs1331616971	p.Leu286Ile	missense variant	-	NC_000006.12:g.10708968T>A	TOPMed
rs771887841	p.Leu287Phe	missense variant	-	NC_000006.12:g.10708971C>T	ExAC,gnomAD
rs1422201546	p.Leu287Pro	missense variant	-	NC_000006.12:g.10708972T>C	TOPMed
rs1371940259	p.Cys288Ser	missense variant	-	NC_000006.12:g.10708974T>A	TOPMed
rs1233762706	p.Glu289Ala	missense variant	-	NC_000006.12:g.10708978A>C	gnomAD
rs1168805160	p.Ile290Met	missense variant	-	NC_000006.12:g.10708982A>G	TOPMed
rs1409058274	p.Thr292Ser	missense variant	-	NC_000006.12:g.10708986A>T	TOPMed
rs1193312289	p.Ala294Val	missense variant	-	NC_000006.12:g.10708993C>T	TOPMed
rs759587941	p.Thr297Met	missense variant	-	NC_000006.12:g.10709002C>T	ExAC,gnomAD
rs541330686	p.Leu299Phe	missense variant	-	NC_000006.12:g.10709007C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1193510970	p.Ala307Val	missense variant	-	NC_000006.12:g.10709032C>T	gnomAD
rs1484061175	p.Ala307Thr	missense variant	-	NC_000006.12:g.10709031G>A	TOPMed
rs764331618	p.Met309Val	missense variant	-	NC_000006.12:g.10709037A>G	ExAC,gnomAD
rs971167647	p.Glu311Lys	missense variant	-	NC_000006.12:g.10709043G>A	TOPMed
rs751862442	p.Pro314Ser	missense variant	-	NC_000006.12:g.10709052C>T	ExAC,gnomAD
rs757564742	p.Pro315Leu	missense variant	-	NC_000006.12:g.10709056C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser320Tyr	missense variant	-	NC_000006.12:g.10709071C>A	NCI-TCGA
rs781668945	p.Pro321Ser	missense variant	-	NC_000006.12:g.10709073C>T	ExAC,gnomAD
rs762152013	p.Glu325Val	missense variant	-	NC_000006.12:g.10709247A>T	ExAC,gnomAD
rs370741204	p.Ser327Pro	missense variant	-	NC_000006.12:g.10709252T>C	ESP,ExAC,TOPMed,gnomAD
rs750835827	p.Ser327Phe	missense variant	-	NC_000006.12:g.10709253C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ile329Thr	missense variant	-	NC_000006.12:g.10709259T>C	NCI-TCGA
NCI-TCGA novel	p.Lys332Asn	missense variant	-	NC_000006.12:g.10709269G>T	NCI-TCGA
rs201629252	p.Glu333Asp	missense variant	-	NC_000006.12:g.10709272G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1441369764	p.Gly335Ser	missense variant	-	NC_000006.12:g.10709276G>A	gnomAD
rs375199458	p.Val338Ala	missense variant	-	NC_000006.12:g.10709286T>C	ESP,ExAC,TOPMed,gnomAD
rs757989245	p.Val338Met	missense variant	-	NC_000006.12:g.10709285G>A	ExAC,gnomAD
rs770667105	p.Lys340Glu	missense variant	-	NC_000006.12:g.10709291A>G	ExAC,TOPMed,gnomAD
rs149331925	p.Glu342Gln	missense variant	-	NC_000006.12:g.10709297G>C	ESP,ExAC,TOPMed,gnomAD
rs745708831	p.Glu342Ala	missense variant	-	NC_000006.12:g.10709298A>C	ExAC,gnomAD
rs190974202	p.Arg344Leu	missense variant	-	NC_000006.12:g.10709304G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs190974202	p.Arg344Gln	missense variant	-	NC_000006.12:g.10709304G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs769673112	p.Arg344Trp	missense variant	-	NC_000006.12:g.10709303C>T	ExAC,TOPMed,gnomAD
rs769673112	p.Arg344Trp	missense variant	-	NC_000006.12:g.10709303C>T	NCI-TCGA,NCI-TCGA Cosmic
rs774539405	p.Ser345Pro	missense variant	-	NC_000006.12:g.10709306T>C	ExAC,gnomAD
rs761905760	p.Lys350Glu	missense variant	-	NC_000006.12:g.10709321A>G	ExAC,gnomAD
rs1417396834	p.Lys351Glu	missense variant	-	NC_000006.12:g.10709324A>G	TOPMed
rs750701531	p.Arg352His	missense variant	-	NC_000006.12:g.10709328G>A	ExAC,gnomAD
rs147437498	p.Arg352Cys	missense variant	-	NC_000006.12:g.10709327C>T	ESP,ExAC,TOPMed,gnomAD
rs147437498	p.Arg352Cys	missense variant	-	NC_000006.12:g.10709327C>T	NCI-TCGA,NCI-TCGA Cosmic
rs532654988	p.Gly353Ser	missense variant	-	NC_000006.12:g.10709330G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs532654988	p.Gly353Cys	missense variant	-	NC_000006.12:g.10709330G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs548071451	p.Thr355Arg	missense variant	-	NC_000006.12:g.10709337C>G	1000Genomes,ExAC,gnomAD
rs138082481	p.Thr355Ser	missense variant	-	NC_000006.12:g.10709336A>T	ESP,ExAC,TOPMed,gnomAD
rs1468653869	p.Asp357Tyr	missense variant	-	NC_000006.12:g.10709342G>T	TOPMed,gnomAD
rs1468653869	p.Asp357His	missense variant	-	NC_000006.12:g.10709342G>C	TOPMed,gnomAD
rs763494608	p.Ser358Gly	missense variant	-	NC_000006.12:g.10709345A>G	ExAC,TOPMed,gnomAD
rs34857240	p.Lys359Glu	missense variant	-	NC_000006.12:g.10709348A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1381592765	p.Thr362Ile	missense variant	-	NC_000006.12:g.10709358C>T	TOPMed
rs147259600	p.Thr362Ala	missense variant	-	NC_000006.12:g.10709357A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM1071804	p.Glu364Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.10709363G>T	NCI-TCGA Cosmic
rs768619766	p.Ile368Met	missense variant	-	NC_000006.12:g.10709377A>G	ExAC,gnomAD
rs749199819	p.Ile368Val	missense variant	-	NC_000006.12:g.10709375A>G	ExAC,gnomAD
rs1437708870	p.Ile368Thr	missense variant	-	NC_000006.12:g.10709376T>C	TOPMed
rs201265248	p.Ser369Pro	missense variant	-	NC_000006.12:g.10709378T>C	ExAC,gnomAD
NCI-TCGA novel	p.Thr370Ser	missense variant	-	NC_000006.12:g.10709382C>G	NCI-TCGA
rs1296638087	p.Lys372Arg	missense variant	-	NC_000006.12:g.10709388A>G	gnomAD
rs72821574	p.Val376Ile	missense variant	-	NC_000006.12:g.10709399G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150834153	p.Met378Ile	missense variant	-	NC_000006.12:g.10709407G>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu380AspPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.10709412_10709413insCTGTTCTTTACTTACT	NCI-TCGA
COSM3857264	p.Glu380Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10709412A>G	NCI-TCGA Cosmic
rs1383628115	p.Lys384Arg	missense variant	-	NC_000006.12:g.10709424A>G	TOPMed
rs747636201	p.Lys384Glu	missense variant	-	NC_000006.12:g.10709423A>G	TOPMed,gnomAD
rs139264536	p.Lys386Asn	missense variant	-	NC_000006.12:g.10709431G>C	ESP,ExAC,TOPMed,gnomAD
rs995826338	p.Ile388Met	missense variant	-	NC_000006.12:g.10709437A>G	TOPMed
rs537437372	p.Ile388Val	missense variant	-	NC_000006.12:g.10709435A>G	1000Genomes,ExAC,gnomAD
rs1340931492	p.Lys389Arg	missense variant	-	NC_000006.12:g.10709439A>G	gnomAD
rs1195879678	p.Thr390Ala	missense variant	-	NC_000006.12:g.10709441A>G	gnomAD
rs764243590	p.Thr390Lys	missense variant	-	NC_000006.12:g.10709442C>A	ExAC,TOPMed,gnomAD
rs764243590	p.Thr390Ile	missense variant	-	NC_000006.12:g.10709442C>T	ExAC,TOPMed,gnomAD
rs1484665335	p.Met391Arg	missense variant	-	NC_000006.12:g.10709445T>G	gnomAD
rs760088755	p.Gln392Ter	stop gained	-	NC_000006.12:g.10709447C>T	ExAC,gnomAD
rs765805578	p.Gln392Leu	missense variant	-	NC_000006.12:g.10709448A>T	ExAC,gnomAD
rs765805578	p.Gln392Leu	missense variant	-	NC_000006.12:g.10709448A>T	NCI-TCGA
rs750985706	p.Ter393Ser	stop lost	-	NC_000006.12:g.10709451G>C	ExAC
rs1189481622	p.Leu3Val	missense variant	-	CHR_HG2057_PATCH:g.10694992C>G	TOPMed
rs763848894	p.Val4Phe	missense variant	-	CHR_HG2057_PATCH:g.10694995G>T	ExAC,gnomAD
rs757088413	p.Ala5Ser	missense variant	-	CHR_HG2057_PATCH:g.10694998G>T	ExAC,TOPMed,gnomAD
rs757088413	p.Ala5Pro	missense variant	-	CHR_HG2057_PATCH:g.10694998G>C	ExAC,TOPMed,gnomAD
rs200871118	p.Gly6Cys	missense variant	-	CHR_HG2057_PATCH:g.10695001G>T	ExAC,TOPMed,gnomAD
rs1361731562	p.Tyr8Ter	stop gained	-	CHR_HG2057_PATCH:g.10695009C>A	gnomAD
rs1361731562	p.Tyr8Ter	stop gained	-	CHR_HG2057_PATCH:g.10695009C>G	gnomAD
rs1182004409	p.Glu9Asp	missense variant	-	CHR_HG2057_PATCH:g.10695012G>T	gnomAD
rs371781516	p.Glu9Lys	missense variant	-	CHR_HG2057_PATCH:g.10695010G>A	ESP,ExAC,TOPMed,gnomAD
rs371781516	p.Glu9Gln	missense variant	-	CHR_HG2057_PATCH:g.10695010G>C	ESP,ExAC,TOPMed,gnomAD
rs376060945	p.Gln10His	missense variant	-	CHR_HG2057_PATCH:g.10695015G>C	ESP,TOPMed
rs756176747	p.Gln10Glu	missense variant	-	CHR_HG2057_PATCH:g.10695013C>G	ExAC,TOPMed,gnomAD
rs1299991263	p.Val11Ile	missense variant	-	CHR_HG2057_PATCH:g.10695016G>A	TOPMed
rs915535382	p.Phe13Tyr	missense variant	-	CHR_HG2057_PATCH:g.10695023T>A	TOPMed,gnomAD
rs780256684	p.Phe13Val	missense variant	-	CHR_HG2057_PATCH:g.10695022T>G	ExAC,TOPMed,gnomAD
rs915535382	p.Phe13Ser	missense variant	-	CHR_HG2057_PATCH:g.10695023T>C	TOPMed,gnomAD
rs915535382	p.Phe13Cys	missense variant	-	CHR_HG2057_PATCH:g.10695023T>G	TOPMed,gnomAD
rs1467643460	p.Gly14Val	missense variant	-	CHR_HG2057_PATCH:g.10695026G>T	gnomAD
rs1171955323	p.Val17Leu	missense variant	-	CHR_HG2057_PATCH:g.10695034G>C	gnomAD
rs749417108	p.His18Tyr	missense variant	-	CHR_HG2057_PATCH:g.10695037C>T	ExAC,gnomAD
rs1341888426	p.Glu20Asp	missense variant	-	CHR_HG2057_PATCH:g.10695045G>C	gnomAD
rs1331835439	p.Glu20Ala	missense variant	-	CHR_HG2057_PATCH:g.10695044A>C	TOPMed,gnomAD
rs774651899	p.Pro21Leu	missense variant	-	CHR_HG2057_PATCH:g.10695047C>T	ExAC,gnomAD
rs1448195071	p.Pro21Ser	missense variant	-	CHR_HG2057_PATCH:g.10695046C>T	gnomAD
rs772493979	p.Glu22Asp	missense variant	-	CHR_HG2057_PATCH:g.10695051G>C	ExAC,gnomAD
rs761160420	p.Cys24Phe	missense variant	-	CHR_HG2057_PATCH:g.10695056G>T	ExAC,gnomAD
rs1198486289	p.Asp26Asn	missense variant	-	CHR_HG2057_PATCH:g.10695061G>A	gnomAD
rs1339009310	p.Asp26Gly	missense variant	-	CHR_HG2057_PATCH:g.10695062A>G	TOPMed
rs1008791325	p.Trp30Ter	stop gained	-	CHR_HG2057_PATCH:g.10697329G>A	TOPMed
rs777145719	p.Thr31Ile	missense variant	-	CHR_HG2057_PATCH:g.10697331C>T	ExAC,TOPMed,gnomAD
rs777145719	p.Thr31Ser	missense variant	-	CHR_HG2057_PATCH:g.10697331C>G	ExAC,TOPMed,gnomAD
rs1381378465	p.Val33Glu	missense variant	-	CHR_HG2057_PATCH:g.10697337T>A	gnomAD
rs1385034760	p.Asp35Gly	missense variant	-	CHR_HG2057_PATCH:g.10697343A>G	gnomAD
rs369987329	p.Phe36Leu	missense variant	-	CHR_HG2057_PATCH:g.10697347C>A	ESP,ExAC,gnomAD
rs1325385485	p.Phe36Ile	missense variant	-	CHR_HG2057_PATCH:g.10697345T>A	gnomAD
rs768207218	p.His38Tyr	missense variant	-	CHR_HG2057_PATCH:g.10697351C>T	ExAC,gnomAD
rs370701797	p.Val48Ile	missense variant	-	CHR_HG2057_PATCH:g.10697381G>A	ExAC,TOPMed,gnomAD
rs946134331	p.Ala49Thr	missense variant	-	CHR_HG2057_PATCH:g.10697384G>A	TOPMed,gnomAD
rs946134331	p.Ala49Pro	missense variant	-	CHR_HG2057_PATCH:g.10697384G>C	TOPMed,gnomAD
rs1437657134	p.Val50Ile	missense variant	-	CHR_HG2057_PATCH:g.10697387G>A	gnomAD
rs1177158343	p.Ser52Asn	missense variant	-	CHR_HG2057_PATCH:g.10697394G>A	gnomAD
rs1041702774	p.Arg53His	missense variant	-	CHR_HG2057_PATCH:g.10697397G>A	TOPMed,gnomAD
rs1041702774	p.Arg53Pro	missense variant	-	CHR_HG2057_PATCH:g.10697397G>C	TOPMed,gnomAD
rs1158757669	p.Val55Leu	missense variant	-	CHR_HG2057_PATCH:g.10697402G>T	TOPMed
rs1158809032	p.Val56Leu	missense variant	-	CHR_HG2057_PATCH:g.10697405G>C	gnomAD
rs139672454	p.Lys60Arg	missense variant	-	CHR_HG2057_PATCH:g.10697418A>G	ESP,ExAC,TOPMed,gnomAD
rs1183140580	p.Lys60Asn	missense variant	-	CHR_HG2057_PATCH:g.10697419A>T	TOPMed
rs1035406624	p.Ile66Val	missense variant	-	CHR_HG2057_PATCH:g.10697435A>G	TOPMed,gnomAD
rs754942039	p.Tyr67His	missense variant	-	CHR_HG2057_PATCH:g.10697438T>C	ExAC,gnomAD
rs149772832	p.Tyr67Ser	missense variant	-	CHR_HG2057_PATCH:g.10697439A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149772832	p.Tyr67Cys	missense variant	-	CHR_HG2057_PATCH:g.10697439A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs988335577	p.Asp68Glu	missense variant	-	CHR_HG2057_PATCH:g.10697443C>G	TOPMed
rs752771472	p.Met69Ile	missense variant	-	CHR_HG2057_PATCH:g.10697446G>A	ExAC
rs758617036	p.Lys70Arg	missense variant	-	CHR_HG2057_PATCH:g.10697448A>G	ExAC,gnomAD
rs1329060208	p.Lys71Arg	missense variant	-	CHR_HG2057_PATCH:g.10697451A>G	gnomAD
rs1378751120	p.Ile73Thr	missense variant	-	CHR_HG2057_PATCH:g.10697457T>C	gnomAD
rs778004073	p.Ile73Met	missense variant	-	CHR_HG2057_PATCH:g.10697458T>G	ExAC,gnomAD
rs781604474	p.His75Pro	missense variant	-	CHR_HG2057_PATCH:g.10697463A>C	ExAC,gnomAD
rs771299681	p.His75Asn	missense variant	-	CHR_HG2057_PATCH:g.10697462C>A	ExAC,TOPMed,gnomAD
rs746373040	p.Leu78Val	missense variant	-	CHR_HG2057_PATCH:g.10697471C>G	ExAC,gnomAD
rs770251781	p.Val79Ala	missense variant	-	CHR_HG2057_PATCH:g.10697475T>C	ExAC,gnomAD
rs1339292795	p.Val79Met	missense variant	-	CHR_HG2057_PATCH:g.10697474G>A	gnomAD
rs773879151	p.His80Pro	missense variant	-	CHR_HG2057_PATCH:g.10697478A>C	ExAC,gnomAD
rs773879151	p.His80Arg	missense variant	-	CHR_HG2057_PATCH:g.10697478A>G	ExAC,gnomAD
rs1458453525	p.His81Tyr	missense variant	-	CHR_HG2057_PATCH:g.10697480C>T	gnomAD
rs757532852	p.Thr84Ile	missense variant	-	CHR_HG2057_PATCH:g.10702372C>T	ExAC,gnomAD
rs751776397	p.Thr84Ala	missense variant	-	CHR_HG2057_PATCH:g.10702371A>G	ExAC,gnomAD
rs1256283696	p.Ile85Val	missense variant	-	CHR_HG2057_PATCH:g.10702374A>G	gnomAD
rs998869219	p.Thr86Ile	missense variant	-	CHR_HG2057_PATCH:g.10702378C>T	TOPMed,gnomAD
rs756602288	p.Tyr91Ter	stop gained	-	CHR_HG2057_PATCH:g.10702394T>A	ExAC,TOPMed,gnomAD
rs746255966	p.Tyr91Cys	missense variant	-	CHR_HG2057_PATCH:g.10702393A>G	ExAC,TOPMed,gnomAD
rs1486906066	p.Gly92Asp	missense variant	-	CHR_HG2057_PATCH:g.10702396G>A	TOPMed
rs1478065056	p.His95Arg	missense variant	-	CHR_HG2057_PATCH:g.10702405A>G	TOPMed,gnomAD
rs1478065056	p.His95Leu	missense variant	-	CHR_HG2057_PATCH:g.10702405A>T	TOPMed,gnomAD
rs1209913480	p.Leu96Phe	missense variant	-	CHR_HG2057_PATCH:g.10702409A>C	gnomAD
rs1487800692	p.Ile97Asn	missense variant	-	CHR_HG2057_PATCH:g.10702411T>A	TOPMed
rs543079611	p.Ala100Val	missense variant	-	CHR_HG2057_PATCH:g.10702420C>T	1000Genomes,ExAC,gnomAD
rs1456160523	p.Leu104Pro	missense variant	-	CHR_HG2057_PATCH:g.10702432T>C	gnomAD
rs576346939	p.Leu104Phe	missense variant	-	CHR_HG2057_PATCH:g.10702431C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1398190019	p.Asp109Ala	missense variant	-	CHR_HG2057_PATCH:g.10702447A>C	TOPMed,gnomAD
rs1360031821	p.Asp109Asn	missense variant	-	CHR_HG2057_PATCH:g.10702446G>A	gnomAD
rs1398190019	p.Asp109Val	missense variant	-	CHR_HG2057_PATCH:g.10702447A>T	TOPMed,gnomAD
rs1280719286	p.Ala110Val	missense variant	-	CHR_HG2057_PATCH:g.10702450C>T	gnomAD
rs1341663907	p.Lys112Gln	missense variant	-	CHR_HG2057_PATCH:g.10702455A>C	gnomAD
rs1226070786	p.Trp113Leu	missense variant	-	CHR_HG2057_PATCH:g.10702459G>T	TOPMed
rs954230160	p.Glu114Lys	missense variant	-	CHR_HG2057_PATCH:g.10702461G>A	TOPMed,gnomAD
rs770759731	p.Cys115Ser	missense variant	-	CHR_HG2057_PATCH:g.10702465G>C	ExAC,gnomAD
rs759283569	p.Leu116Pro	missense variant	-	CHR_HG2057_PATCH:g.10702468T>C	ExAC,TOPMed,gnomAD
rs775304872	p.Ser118Ala	missense variant	-	CHR_HG2057_PATCH:g.10702473T>G	ExAC,TOPMed,gnomAD
rs1305319312	p.Lys120Asn	missense variant	-	CHR_HG2057_PATCH:g.10702481A>C	TOPMed
rs1213806151	p.Ala121Val	missense variant	-	CHR_HG2057_PATCH:g.10702483C>T	gnomAD
rs933583838	p.His122Pro	missense variant	-	CHR_HG2057_PATCH:g.10702486A>C	TOPMed
rs775412822	p.Lys123Asn	missense variant	-	CHR_HG2057_PATCH:g.10702565A>C	ExAC,gnomAD
rs62621438	p.Gly124Arg	missense variant	-	CHR_HG2057_PATCH:g.10702566G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs551247280	p.Val126Leu	missense variant	-	CHR_HG2057_PATCH:g.10702572G>T	ExAC,TOPMed,gnomAD
rs200433932	p.Leu129Phe	missense variant	-	CHR_HG2057_PATCH:g.10702581C>T	1000Genomes,ExAC,gnomAD
rs548226729	p.His132Gln	missense variant	-	CHR_HG2057_PATCH:g.10702592C>A	1000Genomes,ExAC,gnomAD
rs569689711	p.Pro133Ala	missense variant	-	CHR_HG2057_PATCH:g.10702593C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs569689711	p.Pro133Ser	missense variant	-	CHR_HG2057_PATCH:g.10702593C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs754307959	p.Pro133Leu	missense variant	-	CHR_HG2057_PATCH:g.10702594C>T	ExAC,gnomAD
rs1444149658	p.Ser134Cys	missense variant	-	CHR_HG2057_PATCH:g.10702597C>G	gnomAD
rs1310941584	p.Gly135Ser	missense variant	-	CHR_HG2057_PATCH:g.10702599G>A	gnomAD
rs755512237	p.Leu137Val	missense variant	-	CHR_HG2057_PATCH:g.10702605T>G	ExAC
rs1463974352	p.Ala138Val	missense variant	-	CHR_HG2057_PATCH:g.10702609C>T	TOPMed
rs1048882804	p.Ala138Thr	missense variant	-	CHR_HG2057_PATCH:g.10702608G>A	TOPMed
rs1277010938	p.Leu139Pro	missense variant	-	CHR_HG2057_PATCH:g.10702612T>C	gnomAD
rs1350809622	p.Ser140Leu	missense variant	-	CHR_HG2057_PATCH:g.10702615C>T	gnomAD
rs141357694	p.Val141Ala	missense variant	-	CHR_HG2057_PATCH:g.10702618T>C	ESP,TOPMed,gnomAD
rs751066241	p.Val141Ile	missense variant	-	CHR_HG2057_PATCH:g.10702617G>A	ExAC,gnomAD
rs780830226	p.Thr143Lys	missense variant	-	CHR_HG2057_PATCH:g.10702624C>A	ExAC,TOPMed,gnomAD
rs1037020277	p.Asp144Gly	missense variant	-	CHR_HG2057_PATCH:g.10702627A>G	TOPMed
rs1258335016	p.Thr146Ala	missense variant	-	CHR_HG2057_PATCH:g.10702632A>G	TOPMed,gnomAD
rs753133647	p.Thr149Met	missense variant	-	CHR_HG2057_PATCH:g.10703407C>T	ExAC,TOPMed,gnomAD
rs1226158270	p.Leu152Pro	missense variant	-	CHR_HG2057_PATCH:g.10703416T>C	TOPMed
rs972279400	p.Val153Ile	missense variant	-	CHR_HG2057_PATCH:g.10703418G>A	TOPMed,gnomAD
rs972279400	p.Val153Leu	missense variant	-	CHR_HG2057_PATCH:g.10703418G>T	TOPMed,gnomAD
rs753261456	p.Arg156Lys	missense variant	-	CHR_HG2057_PATCH:g.10703428G>A	ExAC,TOPMed,gnomAD
rs765782849	p.Arg156Gly	missense variant	-	CHR_HG2057_PATCH:g.10703427A>G	ExAC,gnomAD
rs753261456	p.Arg156Ile	missense variant	-	CHR_HG2057_PATCH:g.10703428G>T	ExAC,TOPMed,gnomAD
rs1401875316	p.Ile160Val	missense variant	-	CHR_HG2057_PATCH:g.10703439A>G	gnomAD
rs559977553	p.Lys161Arg	missense variant	-	CHR_HG2057_PATCH:g.10703443A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1338913716	p.Asn162Tyr	missense variant	-	CHR_HG2057_PATCH:g.10703445A>T	TOPMed
rs530364577	p.Asn162Thr	missense variant	-	CHR_HG2057_PATCH:g.10703446A>C	1000Genomes,ExAC,gnomAD
rs1305414182	p.Lys164Glu	missense variant	-	CHR_HG2057_PATCH:g.10703451A>G	TOPMed
rs1360431859	p.Lys164Asn	missense variant	-	CHR_HG2057_PATCH:g.10703453A>C	gnomAD
rs1414843182	p.Gln165Glu	missense variant	-	CHR_HG2057_PATCH:g.10703454C>G	gnomAD
rs764693083	p.Ala167Ser	missense variant	-	CHR_HG2057_PATCH:g.10704509G>T	ExAC,gnomAD
rs1318841475	p.His168Arg	missense variant	-	CHR_HG2057_PATCH:g.10704513A>G	gnomAD
rs1406046644	p.Ile169Val	missense variant	-	CHR_HG2057_PATCH:g.10704515A>G	TOPMed
rs1230758231	p.Ile169Met	missense variant	-	CHR_HG2057_PATCH:g.10704517A>G	gnomAD
rs749851403	p.Ile169Thr	missense variant	-	CHR_HG2057_PATCH:g.10704516T>C	ExAC,gnomAD
rs938084538	p.Val170Glu	missense variant	-	CHR_HG2057_PATCH:g.10704519T>A	gnomAD
rs201862329	p.Trp172Cys	missense variant	-	CHR_HG2057_PATCH:g.10704526G>C	ExAC,gnomAD
rs1348879251	p.Trp172Arg	missense variant	-	CHR_HG2057_PATCH:g.10704524T>C	gnomAD
rs1239627967	p.Trp172Ter	stop gained	-	CHR_HG2057_PATCH:g.10704525G>A	gnomAD
rs765946190	p.Ser173Thr	missense variant	-	CHR_HG2057_PATCH:g.10704527T>A	ExAC,gnomAD
rs753482373	p.Pro174Leu	missense variant	-	CHR_HG2057_PATCH:g.10704531C>T	ExAC,gnomAD
rs754679174	p.Gly176Arg	missense variant	-	CHR_HG2057_PATCH:g.10704536G>C	ExAC,TOPMed,gnomAD
rs754679174	p.Gly176Arg	missense variant	-	CHR_HG2057_PATCH:g.10704536G>A	ExAC,TOPMed,gnomAD
rs778660768	p.Gly176Glu	missense variant	-	CHR_HG2057_PATCH:g.10704537G>A	ExAC,TOPMed,gnomAD
rs748018921	p.Glu177Asp	missense variant	-	CHR_HG2057_PATCH:g.10704541G>C	ExAC,TOPMed,gnomAD
rs1454457308	p.Tyr179His	missense variant	-	CHR_HG2057_PATCH:g.10704545T>C	gnomAD
rs375444258	p.Val180Leu	missense variant	-	CHR_HG2057_PATCH:g.10704548G>T	ESP,ExAC,TOPMed,gnomAD
rs770529700	p.Ile182Thr	missense variant	-	CHR_HG2057_PATCH:g.10704555T>C	gnomAD
rs916074390	p.Ile183Met	missense variant	-	CHR_HG2057_PATCH:g.10704559A>G	TOPMed
rs771049452	p.Gln184Ter	stop gained	-	CHR_HG2057_PATCH:g.10704560C>T	ExAC,gnomAD
rs775957449	p.Ile189Met	missense variant	-	CHR_HG2057_PATCH:g.10704577C>G	ExAC,TOPMed,gnomAD
rs141123017	p.Ile189Thr	missense variant	-	CHR_HG2057_PATCH:g.10704576T>C	1000Genomes,ExAC,gnomAD
rs201625393	p.Ile189Val	missense variant	-	CHR_HG2057_PATCH:g.10704575A>G	ESP,ExAC,TOPMed,gnomAD
rs762291816	p.Tyr190Cys	missense variant	-	CHR_HG2057_PATCH:g.10704579A>G	ExAC,TOPMed,gnomAD
rs764449402	p.Tyr190His	missense variant	-	CHR_HG2057_PATCH:g.10704578T>C	ExAC,TOPMed,gnomAD
rs764449402	p.Tyr190Asn	missense variant	-	CHR_HG2057_PATCH:g.10704578T>A	ExAC,TOPMed,gnomAD
rs1261693949	p.Thr194Ile	missense variant	-	CHR_HG2057_PATCH:g.10704591C>T	gnomAD
rs929059408	p.Ala195Val	missense variant	-	CHR_HG2057_PATCH:g.10704594C>T	TOPMed,gnomAD
rs765857722	p.Ser196Pro	missense variant	-	CHR_HG2057_PATCH:g.10704596T>C	ExAC,gnomAD
rs145305623	p.Ser198Asn	missense variant	-	CHR_HG2057_PATCH:g.10704603G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145305623	p.Ser198Ile	missense variant	-	CHR_HG2057_PATCH:g.10704603G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs754597395	p.Thr200Ile	missense variant	-	CHR_HG2057_PATCH:g.10704609C>T	ExAC,TOPMed,gnomAD
rs1177665734	p.Ile201Thr	missense variant	-	CHR_HG2057_PATCH:g.10704612T>C	gnomAD
rs1427729335	p.Ile201Met	missense variant	-	CHR_HG2057_PATCH:g.10704613C>G	TOPMed
rs1268338228	p.Ile207Met	missense variant	-	CHR_HG2057_PATCH:g.10704631T>G	TOPMed,gnomAD
rs1235951252	p.Ile207Asn	missense variant	-	CHR_HG2057_PATCH:g.10704630T>A	gnomAD
rs374642668	p.Ser208Phe	missense variant	-	CHR_HG2057_PATCH:g.10704633C>T	ESP,ExAC,TOPMed,gnomAD
rs1456355850	p.Leu213Ile	missense variant	-	CHR_HG2057_PATCH:g.10704647C>A	gnomAD
rs112971132	p.Glu215Asp	missense variant	-	CHR_HG2057_PATCH:g.10704749G>T	TOPMed
rs1462708228	p.Glu215Lys	missense variant	-	CHR_HG2057_PATCH:g.10704747G>A	gnomAD
rs759073628	p.Glu215Gly	missense variant	-	CHR_HG2057_PATCH:g.10704748A>G	ExAC,gnomAD
rs1042628376	p.Val220Met	missense variant	-	CHR_HG2057_PATCH:g.10704762G>A	TOPMed
rs762579782	p.Asp223Gly	missense variant	-	CHR_HG2057_PATCH:g.10704772A>G	ExAC,gnomAD
rs1340442424	p.Asp223Glu	missense variant	-	CHR_HG2057_PATCH:g.10704773T>G	gnomAD
rs903255182	p.Glu225Val	missense variant	-	CHR_HG2057_PATCH:g.10704778A>T	TOPMed,gnomAD
rs751362115	p.Ile227Thr	missense variant	-	CHR_HG2057_PATCH:g.10704784T>C	ExAC,TOPMed,gnomAD
rs751362115	p.Ile227Lys	missense variant	-	CHR_HG2057_PATCH:g.10704784T>A	ExAC,TOPMed,gnomAD
rs1248330092	p.Phe230Leu	missense variant	-	CHR_HG2057_PATCH:g.10704794T>G	TOPMed
rs757218948	p.Asp231Val	missense variant	-	CHR_HG2057_PATCH:g.10704796A>T	ExAC,gnomAD
rs1227761972	p.Asp231Tyr	missense variant	-	CHR_HG2057_PATCH:g.10704795G>T	gnomAD
rs781299034	p.Cys232Tyr	missense variant	-	CHR_HG2057_PATCH:g.10704799G>A	ExAC,gnomAD
rs1482023186	p.Cys232Arg	missense variant	-	CHR_HG2057_PATCH:g.10704798T>C	TOPMed,gnomAD
rs1035653928	p.Asp233Asn	missense variant	-	CHR_HG2057_PATCH:g.10704801G>A	TOPMed
rs756266685	p.Leu235Pro	missense variant	-	CHR_HG2057_PATCH:g.10704808T>C	ExAC,TOPMed,gnomAD
rs960066635	p.Leu235Val	missense variant	-	CHR_HG2057_PATCH:g.10704807C>G	TOPMed
rs780060997	p.Val236Ala	missense variant	-	CHR_HG2057_PATCH:g.10704811T>C	ExAC,gnomAD
rs1479490155	p.Cys237Tyr	missense variant	-	CHR_HG2057_PATCH:g.10704814G>A	TOPMed
rs1211316676	p.Leu238Phe	missense variant	-	CHR_HG2057_PATCH:g.10704816C>T	TOPMed
rs1175682038	p.Glu240Lys	missense variant	-	CHR_HG2057_PATCH:g.10704822G>A	TOPMed,gnomAD
rs768806860	p.Lys242Arg	missense variant	-	CHR_HG2057_PATCH:g.10704829A>G	ExAC,gnomAD
rs1436731359	p.Ala243Val	missense variant	-	CHR_HG2057_PATCH:g.10704832C>T	gnomAD
rs1389597755	p.Val248Leu	missense variant	-	CHR_HG2057_PATCH:g.10707416G>T	TOPMed
rs970831289	p.Glu255Val	missense variant	-	CHR_HG2057_PATCH:g.10707438A>T	TOPMed
rs780155614	p.Pro257Ser	missense variant	-	CHR_HG2057_PATCH:g.10707443C>T	ExAC,TOPMed,gnomAD
rs780155614	p.Pro257Ala	missense variant	-	CHR_HG2057_PATCH:g.10707443C>G	ExAC,TOPMed,gnomAD
rs774340999	p.His259Arg	missense variant	-	CHR_HG2057_PATCH:g.10707450A>G	ExAC,TOPMed,gnomAD
rs1317445830	p.His259Tyr	missense variant	-	CHR_HG2057_PATCH:g.10707449C>T	TOPMed,gnomAD
rs926366590	p.His260Tyr	missense variant	-	CHR_HG2057_PATCH:g.10707452C>T	TOPMed,gnomAD
rs1469627432	p.Val261Leu	missense variant	-	CHR_HG2057_PATCH:g.10707455G>C	gnomAD
rs779029025	p.Ala265Val	missense variant	-	CHR_HG2057_PATCH:g.10707468C>T	ExAC,gnomAD
rs778178362	p.Ser267Asn	missense variant	-	CHR_HG2057_PATCH:g.10707474G>A	ExAC,gnomAD
rs1179031663	p.Lys272Arg	missense variant	-	CHR_HG2057_PATCH:g.10707489A>G	gnomAD
rs747502007	p.Met273Ile	missense variant	-	CHR_HG2057_PATCH:g.10707493G>T	ExAC,gnomAD
rs771392427	p.Lys275Thr	missense variant	-	CHR_HG2057_PATCH:g.10707498A>C	ExAC
rs748769773	p.Asp279Val	missense variant	-	CHR_HG2057_PATCH:g.10707510A>T	ExAC,gnomAD
rs748769773	p.Asp279Gly	missense variant	-	CHR_HG2057_PATCH:g.10707510A>G	ExAC,gnomAD
rs543748909	p.Lys280Glu	missense variant	-	CHR_HG2057_PATCH:g.10707512A>G	1000Genomes,ExAC,gnomAD
rs1330440499	p.Lys281Gln	missense variant	-	CHR_HG2057_PATCH:g.10708953A>C	gnomAD
rs774061851	p.Lys281Arg	missense variant	-	CHR_HG2057_PATCH:g.10708954A>G	ExAC,gnomAD
rs1446641274	p.Val282Ile	missense variant	-	CHR_HG2057_PATCH:g.10708956G>A	TOPMed,gnomAD
rs150098092	p.Val282Ala	missense variant	-	CHR_HG2057_PATCH:g.10708957T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs988724197	p.Pro284Ser	missense variant	-	CHR_HG2057_PATCH:g.10708962C>T	TOPMed
rs1301929326	p.Leu286Ser	missense variant	-	CHR_HG2057_PATCH:g.10708969T>C	TOPMed
rs1331616971	p.Leu286Ile	missense variant	-	CHR_HG2057_PATCH:g.10708968T>A	TOPMed
rs771887841	p.Leu287Phe	missense variant	-	CHR_HG2057_PATCH:g.10708971C>T	ExAC,gnomAD
rs1422201546	p.Leu287Pro	missense variant	-	CHR_HG2057_PATCH:g.10708972T>C	TOPMed
rs1371940259	p.Cys288Ser	missense variant	-	CHR_HG2057_PATCH:g.10708974T>A	TOPMed
rs1233762706	p.Glu289Ala	missense variant	-	CHR_HG2057_PATCH:g.10708978A>C	gnomAD
rs1168805160	p.Ile290Met	missense variant	-	CHR_HG2057_PATCH:g.10708982A>G	TOPMed
rs1409058274	p.Thr292Ser	missense variant	-	CHR_HG2057_PATCH:g.10708986A>T	TOPMed
rs1193312289	p.Ala294Val	missense variant	-	CHR_HG2057_PATCH:g.10708993C>T	TOPMed
rs759587941	p.Thr297Met	missense variant	-	CHR_HG2057_PATCH:g.10709002C>T	ExAC,gnomAD
rs541330686	p.Leu299Phe	missense variant	-	CHR_HG2057_PATCH:g.10709007C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1484061175	p.Ala307Thr	missense variant	-	CHR_HG2057_PATCH:g.10709031G>A	TOPMed
rs1193510970	p.Ala307Val	missense variant	-	CHR_HG2057_PATCH:g.10709032C>T	gnomAD
rs764331618	p.Met309Val	missense variant	-	CHR_HG2057_PATCH:g.10709037A>G	ExAC,gnomAD
rs971167647	p.Glu311Lys	missense variant	-	CHR_HG2057_PATCH:g.10709043G>A	TOPMed
rs751862442	p.Pro314Ser	missense variant	-	CHR_HG2057_PATCH:g.10709052C>T	ExAC,gnomAD
rs757564742	p.Pro315Leu	missense variant	-	CHR_HG2057_PATCH:g.10709056C>T	ExAC,gnomAD
rs781668945	p.Pro321Ser	missense variant	-	CHR_HG2057_PATCH:g.10709073C>T	ExAC,gnomAD
rs762152013	p.Glu325Val	missense variant	-	CHR_HG2057_PATCH:g.10709247A>T	ExAC,gnomAD
rs370741204	p.Ser327Pro	missense variant	-	CHR_HG2057_PATCH:g.10709252T>C	ESP,ExAC,TOPMed,gnomAD
rs750835827	p.Ser327Phe	missense variant	-	CHR_HG2057_PATCH:g.10709253C>T	ExAC,gnomAD
rs201629252	p.Glu333Asp	missense variant	-	CHR_HG2057_PATCH:g.10709272G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1441369764	p.Gly335Ser	missense variant	-	CHR_HG2057_PATCH:g.10709276G>A	gnomAD
rs757989245	p.Val338Met	missense variant	-	CHR_HG2057_PATCH:g.10709285G>A	ExAC,gnomAD
rs375199458	p.Val338Ala	missense variant	-	CHR_HG2057_PATCH:g.10709286T>C	ESP,ExAC,TOPMed,gnomAD
rs770667105	p.Lys340Glu	missense variant	-	CHR_HG2057_PATCH:g.10709291A>G	ExAC,TOPMed,gnomAD
rs149331925	p.Glu342Gln	missense variant	-	CHR_HG2057_PATCH:g.10709297G>C	ESP,ExAC,TOPMed,gnomAD
rs745708831	p.Glu342Ala	missense variant	-	CHR_HG2057_PATCH:g.10709298A>C	ExAC,gnomAD
rs190974202	p.Arg344Leu	missense variant	-	CHR_HG2057_PATCH:g.10709304G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs190974202	p.Arg344Gln	missense variant	-	CHR_HG2057_PATCH:g.10709304G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs769673112	p.Arg344Trp	missense variant	-	CHR_HG2057_PATCH:g.10709303C>T	ExAC,TOPMed,gnomAD
rs774539405	p.Ser345Pro	missense variant	-	CHR_HG2057_PATCH:g.10709306T>C	ExAC,gnomAD
rs761905760	p.Lys350Glu	missense variant	-	CHR_HG2057_PATCH:g.10709321A>G	ExAC,gnomAD
rs1417396834	p.Lys351Glu	missense variant	-	CHR_HG2057_PATCH:g.10709324A>G	TOPMed
rs147437498	p.Arg352Cys	missense variant	-	CHR_HG2057_PATCH:g.10709327C>T	ESP,ExAC,TOPMed,gnomAD
rs750701531	p.Arg352His	missense variant	-	CHR_HG2057_PATCH:g.10709328G>A	ExAC,gnomAD
rs532654988	p.Gly353Cys	missense variant	-	CHR_HG2057_PATCH:g.10709330G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs532654988	p.Gly353Ser	missense variant	-	CHR_HG2057_PATCH:g.10709330G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs548071451	p.Thr355Arg	missense variant	-	CHR_HG2057_PATCH:g.10709337C>G	1000Genomes,ExAC,gnomAD
rs138082481	p.Thr355Ser	missense variant	-	CHR_HG2057_PATCH:g.10709336A>T	ESP,ExAC,TOPMed,gnomAD
rs1468653869	p.Asp357Tyr	missense variant	-	CHR_HG2057_PATCH:g.10709342G>T	TOPMed,gnomAD
rs1468653869	p.Asp357His	missense variant	-	CHR_HG2057_PATCH:g.10709342G>C	TOPMed,gnomAD
rs763494608	p.Ser358Gly	missense variant	-	CHR_HG2057_PATCH:g.10709345A>G	ExAC,TOPMed,gnomAD
rs34857240	p.Lys359Glu	missense variant	-	CHR_HG2057_PATCH:g.10709348A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1381592765	p.Thr362Ile	missense variant	-	CHR_HG2057_PATCH:g.10709358C>T	TOPMed
rs147259600	p.Thr362Ala	missense variant	-	CHR_HG2057_PATCH:g.10709357A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749199819	p.Ile368Val	missense variant	-	CHR_HG2057_PATCH:g.10709375A>G	ExAC,gnomAD
rs1437708870	p.Ile368Thr	missense variant	-	CHR_HG2057_PATCH:g.10709376T>C	TOPMed
rs768619766	p.Ile368Met	missense variant	-	CHR_HG2057_PATCH:g.10709377A>G	ExAC,gnomAD
rs201265248	p.Ser369Pro	missense variant	-	CHR_HG2057_PATCH:g.10709378T>C	ExAC,gnomAD
rs1296638087	p.Lys372Arg	missense variant	-	CHR_HG2057_PATCH:g.10709388A>G	gnomAD
rs72821574	p.Val376Ile	missense variant	-	CHR_HG2057_PATCH:g.10709399G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150834153	p.Met378Ile	missense variant	-	CHR_HG2057_PATCH:g.10709407G>T	ESP,ExAC,TOPMed,gnomAD
rs1383628115	p.Lys384Arg	missense variant	-	CHR_HG2057_PATCH:g.10709424A>G	TOPMed
rs747636201	p.Lys384Glu	missense variant	-	CHR_HG2057_PATCH:g.10709423A>G	TOPMed,gnomAD
rs139264536	p.Lys386Asn	missense variant	-	CHR_HG2057_PATCH:g.10709431G>C	ESP,ExAC,TOPMed,gnomAD
rs995826338	p.Ile388Met	missense variant	-	CHR_HG2057_PATCH:g.10709437A>G	TOPMed
rs537437372	p.Ile388Val	missense variant	-	CHR_HG2057_PATCH:g.10709435A>G	1000Genomes,ExAC,gnomAD
rs1340931492	p.Lys389Arg	missense variant	-	CHR_HG2057_PATCH:g.10709439A>G	gnomAD
rs764243590	p.Thr390Ile	missense variant	-	CHR_HG2057_PATCH:g.10709442C>T	ExAC,TOPMed,gnomAD
rs764243590	p.Thr390Lys	missense variant	-	CHR_HG2057_PATCH:g.10709442C>A	ExAC,TOPMed,gnomAD
rs1195879678	p.Thr390Ala	missense variant	-	CHR_HG2057_PATCH:g.10709441A>G	gnomAD
rs1484665335	p.Met391Arg	missense variant	-	CHR_HG2057_PATCH:g.10709445T>G	gnomAD
rs765805578	p.Gln392Leu	missense variant	-	CHR_HG2057_PATCH:g.10709448A>T	ExAC,gnomAD
rs760088755	p.Gln392Ter	stop gained	-	CHR_HG2057_PATCH:g.10709447C>T	ExAC,gnomAD
rs750985706	p.Ter393Ser	stop lost	-	CHR_HG2057_PATCH:g.10709451G>C	ExAC

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0008283	cell population proliferation	IEA
GO:0009968	negative regulation of signal transduction	IEA
GO:0042273	ribosomal large subunit biogenesis	IMP
GO:0060021	roof of mouth development	IEA
GO:1901796	regulation of signal transduction by p53 class mediator	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005730	nucleolus	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in decreased expression of PAK1IP1 mRNA	28628672
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in decreased expression of PAK1IP1 protein	26558463
C496492	abrine	abrine results in increased expression of PAK1IP1 mRNA	31054353
D001280	Atrazine	Atrazine results in decreased expression of PAK1IP1 mRNA	22378314
C006780	bisphenol A	bisphenol A affects the expression of PAK1IP1 mRNA	30903817
C006780	bisphenol A	bisphenol A results in decreased expression of PAK1IP1 mRNA	29275510
C006780	bisphenol A	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in decreased expression of PAK1IP1 mRNA	28628672
C006780	bisphenol A	[bisphenol A co-treated with Estradiol] results in decreased expression of PAK1IP1 mRNA	26496021
C006780	bisphenol A	bisphenol A results in decreased expression of PAK1IP1 mRNA	26982218
C006780	bisphenol A	bisphenol A results in increased expression of PAK1IP1 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased methylation of PAK1IP1 gene	28505145
C018475	butyraldehyde	butyraldehyde results in increased expression of PAK1IP1 mRNA	26079696
D002117	Calcitriol	Calcitriol results in increased expression of PAK1IP1 mRNA	21592394
D002117	Calcitriol	[Testosterone co-treated with Calcitriol] results in increased expression of PAK1IP1 mRNA	21592394
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of PAK1IP1 mRNA	31150632
D002251	Carbon Tetrachloride	schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of PAK1IP1 mRNA]	31150632
D020111	Chlorodiphenyl (54% Chlorine)	Chlorodiphenyl (54% Chlorine) results in decreased expression of PAK1IP1 mRNA	23650126
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of PAK1IP1 mRNA	27392435
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of PAK1IP1 mRNA	19320972
D019327	Copper Sulfate	Copper Sulfate results in increased expression of PAK1IP1 mRNA	19549813
D016572	Cyclosporine	Cyclosporine results in increased expression of PAK1IP1 mRNA	20106945; 25562108;
C089595	cylindrospermopsin	cylindrospermopsin results in increased expression of PAK1IP1 mRNA	24921660
D003907	Dexamethasone	Dexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of PAK1IP1 mRNA]	27941970
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in decreased expression of PAK1IP1 mRNA	28628672
C041517	dibenzo(a,l)pyrene	dibenzo(a,l)pyrene results in decreased expression of PAK1IP1 mRNA	25908611
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of PAK1IP1 mRNA	21266533
C000944	dicrotophos	dicrotophos results in decreased expression of PAK1IP1 mRNA	28302478
D013196	Dihydrotestosterone	Dihydrotestosterone results in increased expression of PAK1IP1 mRNA	29581250
D004317	Doxorubicin	Doxorubicin results in increased expression of PAK1IP1 mRNA	29803840
D004958	Estradiol	[bisphenol A co-treated with Estradiol] results in decreased expression of PAK1IP1 mRNA	26496021
D000431	Ethanol	Ethanol results in increased expression of PAK1IP1 mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of PAK1IP1 mRNA	17555576
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of PAK1IP1 mRNA	17942748
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of PAK1IP1 mRNA	23129252
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in decreased expression of PAK1IP1 mRNA	23649840
D005485	Flutamide	Flutamide results in increased expression of PAK1IP1 mRNA	24136188
D005742	Gasoline	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of PAK1IP1 mRNA	29432896
D005897	Glafenine	Glafenine results in increased expression of PAK1IP1 mRNA	24136188
D006861	Hydrogen Peroxide	Hydrogen Peroxide affects the expression of PAK1IP1 mRNA	20044591
D006997	Hypochlorous Acid	Hypochlorous Acid results in increased expression of PAK1IP1 mRNA	19376150
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in decreased expression of PAK1IP1 mRNA	28628672
D007213	Indomethacin	Indomethacin results in increased expression of PAK1IP1 mRNA	28201806
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of PAK1IP1 mRNA	25613284
C040507	isobutyl alcohol	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of PAK1IP1 mRNA	29432896
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of PAK1IP1 mRNA	27392435
D048628	Ketolides	Ketolides analog results in decreased expression of PAK1IP1 mRNA	24967691
D019344	Lactic Acid	Lactic Acid results in decreased expression of PAK1IP1 mRNA	30851411
D008767	Methylmercury Compounds	Methylmercury Compounds results in decreased expression of PAK1IP1 protein	26558463
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of PAK1IP1 mRNA	26011545
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of PAK1IP1 mRNA	23649840
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in decreased expression of PAK1IP1 mRNA	25729387
D052638	Particulate Matter	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of PAK1IP1 mRNA	29432896
D010416	Pentachlorophenol	Pentachlorophenol results in increased expression of PAK1IP1 mRNA	23892564
D026023	Permethrin	Permethrin results in increased expression of PAK1IP1 mRNA	19017407
D010634	Phenobarbital	Phenobarbital affects the expression of PAK1IP1 mRNA	19159669
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of PAK1IP1 mRNA	19710929
D010936	Plant Extracts	Plant Extracts results in increased expression of PAK1IP1 mRNA	23557933
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of PAK1IP1 mRNA	29432896
D011374	Progesterone	Progesterone results in decreased expression of PAK1IP1 mRNA	18037150
C015499	schizandrin B	schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of PAK1IP1 mRNA]	31150632
C017947	sodium arsenite	sodium arsenite results in increased expression of PAK1IP1 mRNA	29361514
C016104	sodium bichromate	sodium bichromate results in increased expression of PAK1IP1 mRNA	25993096
D000077210	Sunitinib	Sunitinib results in increased expression of PAK1IP1 mRNA	31533062
D013629	Tamoxifen	Tamoxifen affects the expression of PAK1IP1 mRNA	17555576
D013739	Testosterone	[Testosterone co-treated with Calcitriol] results in increased expression of PAK1IP1 mRNA	21592394
D013739	Testosterone	Testosterone results in increased expression of PAK1IP1 mRNA	21592394
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of PAK1IP1 mRNA	21632981
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of PAK1IP1 mRNA	16611356
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of PAK1IP1 mRNA	25613284
D013853	Thioacetamide	Thioacetamide results in increased expression of PAK1IP1 mRNA	23411599
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in decreased expression of PAK1IP1 mRNA	25729387
C012589	trichostatin A	trichostatin A affects the expression of PAK1IP1 mRNA	28542535
D014520	Urethane	Urethane results in decreased expression of PAK1IP1 mRNA	28818685
D014635	Valproic Acid	Valproic Acid results in decreased methylation of PAK1IP1 gene	29154799
C025643	vinclozolin	vinclozolin affects the expression of PAK1IP1 mRNA	19015723

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-1185	Reference proteome
KW-0677	Repeat
KW-0690	Ribosome biogenesis
KW-0734	Signal transduction inhibitor
KW-0853	WD repeat

Interpro

InterPro ID	InterPro Term
IPR020472	G-protein_beta_WD-40_rep
IPR015943	WD40/YVTN_repeat-like_dom_sf
IPR001680	WD40_repeat
IPR019775	WD40_repeat_CS
IPR017986	WD40_repeat_dom
IPR036322	WD40_repeat_dom_sf

PROSITE

PROSITE ID	PROSITE Term
PS00678	WD_REPEATS_1
PS50082	WD_REPEATS_2
PS50294	WD_REPEATS_REGION

Pfam

Pfam ID	Pfam Term
PF00400	WD40

Gene: PAK1IP1

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

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction