CleftGeneDB-Search

Gene: PDS5B

Basic information

Tag	Content
Uniprot ID	Q9NTI5; Q5R3S3; Q5W0K8; Q6NSC3; Q8IXT6; Q9H5N8; Q9Y2I5; Q9Y451;
Entrez ID	23047
Genbank protein ID	AAH70274.1; CAH73160.2; AAD22134.2; AAH39256.1; CAB69911.1; BAB15584.1; CAI10806.2; BAA76823.2;
Genbank nucleotide ID	XM_017020450.1; NM_015032.3;
Ensembl protein ID	ENSP00000313851; ENSP00000401619;
Ensembl nucleotide ID	ENSG00000083642
Gene name	Sister chromatid cohesion protein PDS5 homolog B
Gene symbol	PDS5B
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Regulator of sister chromatid cohesion in mitosis which may stabilize cohesin complex association with chromatin. May couple sister chromatid cohesion during mitosis to DNA replication. Cohesion ensures that chromosome partitioning is accurate in both meiotic and mitotic cells and plays an important role in DNA repair. Plays a role in androgen-induced proliferative arrest in prostate cells.
Sequence	MAHSKTRTND GKITYPPGVK EISDKISKEE MVRRLKMVVK TFMDMDQDSE EEKELYLNLA 60 LHLASDFFLK HPDKDVRLLV ACCLADIFRI YAPEAPYTSP DKLKDIFMFI TRQLKGLEDT 120 KSPQFNRYFY LLENIAWVKS YNICFELEDS NEIFTQLYRT LFSVINNGHN QKVHMHMVDL 180 MSSIICEGDT VSQELLDTVL VNLVPAHKNL NKQAYDLAKA LLKRTAQAIE PYITNFFNQV 240 LMLGKTSISD LSEHVFDLIL ELYNIDSHLL LSVLPQLEFK LKSNDNEERL QVVKLLAKMF 300 GAKDSELASQ NKPLWQCYLG RFNDIHVPIR LECVKFASHC LMNHPDLAKD LTEYLKVRSH 360 DPEEAIRHDV IVSIVTAAKK DILLVNDHLL NFVRERTLDK RWRVRKEAMM GLAQIYKKYA 420 LQSAAGKDAA KQIAWIKDKL LHIYYQNSID DRLLVERIFA QYMVPHNLET TERMKCLYYL 480 YATLDLNAVK ALNEMWKCQN LLRHQVKDLL DLIKQPKTDA SVKAIFSKVM VITRNLPDPG 540 KAQDFMKKFT QVLEDDEKIR KQLEVLVSPT CSCKQAEGCV REITKKLGNP KQPTNPFLEM 600 IKFLLERIAP VHIDTESISA LIKQVNKSID GTADDEDEGV PTDQAIRAGL ELLKVLSFTH 660 PISFHSAETF ESLLACLKMD DEKVAEAALQ IFKNTGSKIE EDFPHIRSAL LPVLHHKSKK 720 GPPRQAKYAI HCIHAIFSSK ETQFAQIFEP LHKSLDPSNL EHLITPLVTI GHIALLAPDQ 780 FAAPLKSLVA TFIVKDLLMN DRLPGKKTTK LWVPDEEVSP ETMVKIQAIK MMVRWLLGMK 840 NNHSKSGTST LRLLTTILHS DGDLTEQGKI SKPDMSRLRL AAGSAIVKLA QEPCYHEIIT 900 LEQYQLCALA INDECYQVRQ VFAQKLHKGL SRLRLPLEYM AICALCAKDP VKERRAHARQ 960 CLVKNINVRR EYLKQHAAVS EKLLSLLPEY VVPYTIHLLA HDPDYVKVQD IEQLKDVKEC 1020 LWFVLEILMA KNENNSHAFI RKMVENIKQT KDAQGPDDAK MNEKLYTVCD VAMNIIMSKS 1080 TTYSLESPKD PVLPARFFTQ PDKNFSNTKN YLPPEMKSFF TPGKPKTTNV LGAVNKPLSS 1140 AGKQSQTKSS RMETVSNASS SSNPSSPGRI KGRLDSSEMD HSENEDYTMS SPLPGKKSDK 1200 RDDSDLVRSE LEKPRGRKKT PVTEQEEKLG MDDLTKLVQE QKPKGSQRSR KRGHTASESD 1260 EQQWPEEKRL KEDILENEDE QNSPPKKGKR GRPPKPLGGG TPKEEPTMKT SKKGSKKKSG 1320 PPAPEEEEEE ERQSGNTEQK SKSKQHRVSR RAQQRAESPE SSAIESTQST PQKGRGRPSK 1380 TPSPSQPKKN VRVGRSKQAA TKENDSSEEV DVFQGSSPVD DIPQEETEEE EVSTVNVRRR 1440 SAKRERR 1447

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

PDB ID
5HDT

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	PDS5B		F1N7G8		Bos taurus	Prediction	More>>
1:1 ortholog	PDS5B	102180403	A0A452DTE9		Capra hircus	Prediction	More>>
1:1 ortholog	PDS5B	23047	Q9NTI5		Homo sapiens	Prediction	More>>
1:1 ortholog	Pds5b	100710	Q4VA53	CPO	Mus musculus	Publication	More>>
1:1 ortholog	PDS5B		A0A2I3RL13		Pan troglodytes	Prediction	More>>
1:1 ortholog	Pds5b	304218	D3ZXE2		Rattus norvegicus	Prediction	More>>
1:1 ortholog	pds5b	565592	A0A0R4IP12		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs751420517	p.Ser4Ala	missense variant	-	NC_000013.11:g.32648782T>G	ExAC,gnomAD
rs781562934	p.Asn9Ser	missense variant	-	NC_000013.11:g.32648798A>G	gnomAD
COSM469370	p.Asp10Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32648801A>C	NCI-TCGA Cosmic
rs767540581	p.Gly11Ala	missense variant	-	NC_000013.11:g.32648804G>C	ExAC,gnomAD
rs1460695118	p.Lys12Asn	missense variant	-	NC_000013.11:g.32648808A>C	gnomAD
rs1188432583	p.Ile13Leu	missense variant	-	NC_000013.11:g.32648809A>C	TOPMed
NCI-TCGA novel	p.Ile13Asn	missense variant	-	NC_000013.11:g.32648810T>A	NCI-TCGA
rs753814020	p.Thr14Ile	missense variant	-	NC_000013.11:g.32648813C>T	ExAC,gnomAD
rs1354814057	p.Pro17Leu	missense variant	-	NC_000013.11:g.32648822C>T	gnomAD
NCI-TCGA novel	p.Asp24AlaAsnGln	insertion	-	NC_000013.11:g.32648844_32648845insGCAAACCAA	NCI-TCGA
rs758755385	p.Ile26Val	missense variant	-	NC_000013.11:g.32648848A>G	ExAC,gnomAD
COSM696711	p.Arg34Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.32648872C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg34Gln	missense variant	-	NC_000013.11:g.32648873G>A	NCI-TCGA
rs1191950703	p.Met37Leu	missense variant	-	NC_000013.11:g.32651804A>T	gnomAD
NCI-TCGA novel	p.Met37Ile	missense variant	-	NC_000013.11:g.32651806G>A	NCI-TCGA
NCI-TCGA novel	p.Phe42Cys	missense variant	-	NC_000013.11:g.32651820T>G	NCI-TCGA
COSM6074227	p.Met45Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32651830G>A	NCI-TCGA Cosmic
rs1454725407	p.Asp48Glu	missense variant	-	NC_000013.11:g.32651839C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Glu51Ter	stop gained	-	NC_000013.11:g.32651846G>T	NCI-TCGA
COSM696710	p.Glu54Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32651856A>T	NCI-TCGA Cosmic
COSM946919	p.Tyr56Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.32651863T>G	NCI-TCGA Cosmic
rs768251039	p.Asn58Ser	missense variant	-	NC_000013.11:g.32651868A>G	ExAC,gnomAD
rs543763906	p.Ala64Gly	missense variant	-	NC_000013.11:g.32651886C>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Asp66His	missense variant	-	NC_000013.11:g.32651891G>C	NCI-TCGA
rs1302181938	p.Phe68Val	missense variant	-	NC_000013.11:g.32651897T>G	gnomAD
NCI-TCGA novel	p.Leu69SerPheSerTerUnkUnk	frameshift	-	NC_000013.11:g.32651893T>-	NCI-TCGA
rs562368652	p.Asp73Ala	missense variant	-	NC_000013.11:g.32651913A>C	1000Genomes,ExAC,gnomAD
rs562368652	p.Asp73Val	missense variant	-	NC_000013.11:g.32651913A>T	1000Genomes,ExAC,gnomAD
rs1171951389	p.Arg77His	missense variant	-	NC_000013.11:g.32651925G>A	TOPMed
rs760662173	p.Arg77Cys	missense variant	-	NC_000013.11:g.32651924C>T	ExAC,gnomAD
rs774820664	p.Val80Ile	missense variant	-	NC_000013.11:g.32651933G>A	gnomAD
rs774820664	p.Val80Leu	missense variant	-	NC_000013.11:g.32651933G>T	gnomAD
NCI-TCGA novel	p.Cys83Trp	missense variant	-	NC_000013.11:g.32651944C>G	NCI-TCGA
rs200754284	p.Ala95Thr	missense variant	-	NC_000013.11:g.32651978G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ala95LeuPheSerTerUnk	frameshift	-	NC_000013.11:g.32651978G>-	NCI-TCGA
NCI-TCGA novel	p.Tyr97Phe	missense variant	-	NC_000013.11:g.32651985A>T	NCI-TCGA
NCI-TCGA novel	p.Asp105Tyr	missense variant	-	NC_000013.11:g.32658239G>T	NCI-TCGA
NCI-TCGA novel	p.Asp105Asn	missense variant	-	NC_000013.11:g.32658239G>A	NCI-TCGA
rs747655979	p.Ile106Met	missense variant	-	NC_000013.11:g.32658244A>G	ExAC,gnomAD
rs1276851923	p.Ile110Val	missense variant	-	NC_000013.11:g.32658254A>G	gnomAD
rs758049642	p.Thr111Ser	missense variant	-	NC_000013.11:g.32658257A>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg112AspPheSerTerUnk	frameshift	-	NC_000013.11:g.32658259A>-	NCI-TCGA
NCI-TCGA novel	p.Gln113Leu	missense variant	-	NC_000013.11:g.32658264A>T	NCI-TCGA
rs1187094282	p.Leu114Val	missense variant	-	NC_000013.11:g.32658266T>G	gnomAD
rs1473625825	p.Asp119Tyr	missense variant	-	NC_000013.11:g.32658281G>T	gnomAD
rs1429993203	p.Lys121Arg	missense variant	-	NC_000013.11:g.32658288A>G	gnomAD
rs746730729	p.Lys121Glu	missense variant	-	NC_000013.11:g.32658287A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser122Asn	missense variant	-	NC_000013.11:g.32658291G>A	NCI-TCGA
rs1170002394	p.Pro123Ser	missense variant	-	NC_000013.11:g.32658293C>T	gnomAD
rs1414354538	p.Asn126His	missense variant	-	NC_000013.11:g.32658302A>C	TOPMed
rs776621536	p.Asn126Ser	missense variant	-	NC_000013.11:g.32658303A>G	ExAC,gnomAD
rs201036001	p.Tyr128Asn	missense variant	-	NC_000013.11:g.32658308T>A	1000Genomes
COSM4825452	p.Ser140Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32658453C>T	NCI-TCGA Cosmic
rs1344942356	p.Glu146Ter	stop gained	-	NC_000013.11:g.32658470G>T	gnomAD
rs1436125357	p.Ser150Asn	missense variant	-	NC_000013.11:g.32658483G>A	TOPMed,gnomAD
rs1374238475	p.Ser150Gly	missense variant	-	NC_000013.11:g.32658482A>G	gnomAD
NCI-TCGA novel	p.Ser150Ile	missense variant	-	NC_000013.11:g.32658483G>T	NCI-TCGA
rs1044190460	p.Asn151Ser	missense variant	-	NC_000013.11:g.32658486A>G	TOPMed
NCI-TCGA novel	p.Leu161Val	missense variant	-	NC_000013.11:g.32658515T>G	NCI-TCGA
NCI-TCGA novel	p.Ile165Leu	missense variant	-	NC_000013.11:g.32658527A>T	NCI-TCGA
rs1368884119	p.Asn166Ser	missense variant	-	NC_000013.11:g.32658531A>G	gnomAD
rs200126943	p.Asn167Ser	missense variant	-	NC_000013.11:g.32659156A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val173Leu	missense variant	-	NC_000013.11:g.32659173G>C	NCI-TCGA
COSM696709	p.Ile184Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32659206A>G	NCI-TCGA Cosmic
rs1445361167	p.Ile184Thr	missense variant	-	NC_000013.11:g.32659207T>C	TOPMed
rs201417958	p.Ile185Val	missense variant	-	NC_000013.11:g.32659209A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp189Asn	missense variant	-	NC_000013.11:g.32659221G>A	NCI-TCGA
rs919606360	p.Thr198Met	missense variant	-	NC_000013.11:g.32659249C>T	TOPMed,gnomAD
rs776961501	p.Thr198Ala	missense variant	-	NC_000013.11:g.32659248A>G	ExAC,gnomAD
rs1184860074	p.Val199Ala	missense variant	-	NC_000013.11:g.32659252T>C	gnomAD
COSM432329	p.Asn202Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32659261A>T	NCI-TCGA Cosmic
rs1416112170	p.Pro205Ser	missense variant	-	NC_000013.11:g.32659269C>T	gnomAD
rs1164002505	p.His207Arg	missense variant	-	NC_000013.11:g.32659276A>G	gnomAD
NCI-TCGA novel	p.His207Tyr	missense variant	-	NC_000013.11:g.32659275C>T	NCI-TCGA
rs761438791	p.Lys212Arg	missense variant	-	NC_000013.11:g.32667774A>G	ExAC,gnomAD
NCI-TCGA novel	p.Gln213Glu	missense variant	-	NC_000013.11:g.32667776C>G	NCI-TCGA
COSM5070095	p.Asp216Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32667785G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala218Thr	missense variant	-	NC_000013.11:g.32667791G>A	NCI-TCGA
rs1324382029	p.Leu222Met	missense variant	-	NC_000013.11:g.32667803C>A	gnomAD
rs892869982	p.Ile229Val	missense variant	-	NC_000013.11:g.32667824A>G	TOPMed
rs755854224	p.Tyr232Phe	missense variant	-	NC_000013.11:g.32667834A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly244Arg	missense variant	-	NC_000013.11:g.32673240G>C	NCI-TCGA
rs1433739500	p.Ile248Val	missense variant	-	NC_000013.11:g.32673252A>G	TOPMed,gnomAD
rs766107170	p.Asp250Asn	missense variant	-	NC_000013.11:g.32673258G>A	ExAC,gnomAD
rs1315776759	p.Asp250Gly	missense variant	-	NC_000013.11:g.32673259A>G	gnomAD
rs753529885	p.His254Arg	missense variant	-	NC_000013.11:g.32673271A>G	ExAC,gnomAD
rs765096593	p.Val255Leu	missense variant	-	NC_000013.11:g.32673273G>C	ExAC,gnomAD
rs765096593	p.Val255Ile	missense variant	-	NC_000013.11:g.32673273G>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp257Tyr	missense variant	-	NC_000013.11:g.32673279G>T	NCI-TCGA
rs758392202	p.Leu260Val	missense variant	-	NC_000013.11:g.32673288T>G	ExAC,gnomAD
rs746005102	p.Ser267Gly	missense variant	-	NC_000013.11:g.32673309A>G	ExAC,TOPMed
rs531302540	p.Ser267Asn	missense variant	-	NC_000013.11:g.32673310G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.His268Tyr	missense variant	-	NC_000013.11:g.32673312C>T	NCI-TCGA
rs1327531112	p.Val273Leu	missense variant	-	NC_000013.11:g.32673327G>C	gnomAD
NCI-TCGA novel	p.Leu281GluPheSerTerUnk	frameshift	-	NC_000013.11:g.32673346_32673350TTAAA>-	NCI-TCGA
rs780080379	p.Asn284Ser	missense variant	-	NC_000013.11:g.32675848A>G	ExAC,TOPMed,gnomAD
COSM3813732	p.Asp285Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32675850G>T	NCI-TCGA Cosmic
COSM220518	p.Arg289His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32675863G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Phe300Ser	missense variant	-	NC_000013.11:g.32675896T>C	NCI-TCGA
rs1429705686	p.Gly301Arg	missense variant	-	NC_000013.11:g.32675898G>A	gnomAD
COSM946921	p.Lys303Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32675906G>T	NCI-TCGA Cosmic
rs1026409433	p.Lys303Arg	missense variant	-	NC_000013.11:g.32675905A>G	TOPMed
NCI-TCGA novel	p.Asp304Asn	missense variant	-	NC_000013.11:g.32675907G>A	NCI-TCGA
rs778379535	p.Ala308Ser	missense variant	-	NC_000013.11:g.32675919G>T	ExAC
rs778379535	p.Ala308Pro	missense variant	-	NC_000013.11:g.32675919G>C	ExAC
NCI-TCGA novel	p.Ser309Tyr	missense variant	-	NC_000013.11:g.32675923C>A	NCI-TCGA
rs201478116	p.Gln310Lys	missense variant	-	NC_000013.11:g.32675925C>A	ExAC,gnomAD
rs201478116	p.Gln310Glu	missense variant	-	NC_000013.11:g.32675925C>G	ExAC,gnomAD
rs199607822	p.Asn311Lys	missense variant	-	NC_000013.11:g.32675930C>A	ExAC,gnomAD
rs1230211717	p.Gln316Pro	missense variant	-	NC_000013.11:g.32675944A>C	gnomAD
NCI-TCGA novel	p.Leu319Phe	missense variant	-	NC_000013.11:g.32675954G>T	NCI-TCGA
rs1309544178	p.Gly320Asp	missense variant	-	NC_000013.11:g.32675956G>A	TOPMed
rs767404184	p.Phe322Leu	missense variant	-	NC_000013.11:g.32678838T>A	ExAC,gnomAD
COSM432330	p.Asp324Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32678842G>A	NCI-TCGA Cosmic
COSM1128383	p.His326Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32678849A>G	NCI-TCGA Cosmic
rs1172456909	p.His326Asn	missense variant	-	NC_000013.11:g.32678848C>A	gnomAD
rs575047428	p.Ile329Met	missense variant	-	NC_000013.11:g.32678859C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs76367683	p.Ile329Val	missense variant	-	NC_000013.11:g.32678857A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs765491512	p.Arg330Cys	missense variant	-	NC_000013.11:g.32678860C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg330His	missense variant	-	NC_000013.11:g.32678861G>A	NCI-TCGA
rs1322688694	p.Lys335Asn	missense variant	-	NC_000013.11:g.32678877A>T	gnomAD
rs758611025	p.Ala337Ser	missense variant	-	NC_000013.11:g.32678881G>T	ExAC
rs764483823	p.Ala337Val	missense variant	-	NC_000013.11:g.32678882C>T	ExAC,gnomAD
rs751915066	p.Ser338Arg	missense variant	-	NC_000013.11:g.32678886C>G	ExAC,gnomAD
rs1436949681	p.Ser338Asn	missense variant	-	NC_000013.11:g.32678885G>A	TOPMed
rs1369469862	p.His339Arg	missense variant	-	NC_000013.11:g.32678888A>G	gnomAD
rs373958138	p.His339Tyr	missense variant	-	NC_000013.11:g.32678887C>T	ESP,ExAC,TOPMed,gnomAD
rs781685062	p.Leu341Val	missense variant	-	NC_000013.11:g.32678893C>G	ExAC,TOPMed,gnomAD
rs1267235421	p.Met342Val	missense variant	-	NC_000013.11:g.32678896A>G	gnomAD
rs745309199	p.Leu347Ser	missense variant	-	NC_000013.11:g.32678912T>C	ExAC,gnomAD
rs1210161951	p.Ala348Thr	missense variant	-	NC_000013.11:g.32678914G>A	gnomAD
rs755633896	p.Lys349Thr	missense variant	-	NC_000013.11:g.32678918A>C	ExAC,gnomAD
rs377123942	p.Asp350Tyr	missense variant	-	NC_000013.11:g.32678920G>T	ESP,TOPMed
NCI-TCGA novel	p.Thr352Ser	missense variant	-	NC_000013.11:g.32678926A>T	NCI-TCGA
rs754611179	p.Tyr354Ter	stop gained	-	NC_000013.11:g.32683882T>G	ExAC,gnomAD
rs1163950827	p.Lys356Ile	missense variant	-	NC_000013.11:g.32683887A>T	gnomAD
rs778463028	p.Val357Met	missense variant	-	NC_000013.11:g.32683889G>A	ExAC,gnomAD
rs1307278458	p.His360Arg	missense variant	-	NC_000013.11:g.32683899A>G	gnomAD
rs372718271	p.Pro362Ser	missense variant	-	NC_000013.11:g.32683904C>T	ESP,TOPMed
COSM946923	p.Ala365Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32683913G>T	NCI-TCGA Cosmic
rs1392991781	p.Ala365Val	missense variant	-	NC_000013.11:g.32683914C>T	gnomAD
rs772008707	p.Asp369Glu	missense variant	-	NC_000013.11:g.32683927T>G	ExAC,gnomAD
rs772008707	p.Asp369Glu	missense variant	-	NC_000013.11:g.32683927T>A	ExAC,gnomAD
NCI-TCGA novel	p.Val372Gly	missense variant	-	NC_000013.11:g.32683935T>G	NCI-TCGA
rs746943017	p.Thr376Ile	missense variant	-	NC_000013.11:g.32683947C>T	ExAC,gnomAD
rs1012452699	p.Ala378Thr	missense variant	-	NC_000013.11:g.32683952G>A	TOPMed,gnomAD
rs771037519	p.Lys379Glu	missense variant	-	NC_000013.11:g.32683955A>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys380ArgPheSerTerUnkUnk	frameshift	-	NC_000013.11:g.32683955A>-	NCI-TCGA
NCI-TCGA novel	p.Asp381GlyPheSerTerUnk	frameshift	-	NC_000013.11:g.32683954_32683955insA	NCI-TCGA
rs531281981	p.Ile382Val	missense variant	-	NC_000013.11:g.32683964A>G	1000Genomes,ExAC,gnomAD
rs762971030	p.Leu384Gln	missense variant	-	NC_000013.11:g.32683971T>A	ExAC,gnomAD
rs542938836	p.Val385Leu	missense variant	-	NC_000013.11:g.32683973G>C	1000Genomes
rs1188449989	p.Val385Ala	missense variant	-	NC_000013.11:g.32683974T>C	gnomAD
rs762151880	p.Asn386Ser	missense variant	-	NC_000013.11:g.32683977A>G	ExAC,TOPMed,gnomAD
rs767862907	p.His388Arg	missense variant	-	NC_000013.11:g.32683983A>G	ExAC,gnomAD
rs1000960337	p.His388Gln	missense variant	-	NC_000013.11:g.32683984C>G	TOPMed,gnomAD
rs750827034	p.Arg394Ter	stop gained	-	NC_000013.11:g.32684000A>T	ExAC,gnomAD
COSM946924	p.Arg401Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32684022G>A	NCI-TCGA Cosmic
rs779313668	p.Val404Leu	missense variant	-	NC_000013.11:g.32687140G>T	TOPMed
rs1331031039	p.Val404Ala	missense variant	-	NC_000013.11:g.32687141T>C	gnomAD
rs779313668	p.Val404Ile	missense variant	-	NC_000013.11:g.32687140G>A	TOPMed
rs1224573363	p.Arg405Cys	missense variant	-	NC_000013.11:g.32687143C>T	gnomAD
rs1265364570	p.Glu407Lys	missense variant	-	NC_000013.11:g.32687149G>A	gnomAD
rs1327398579	p.Met409Leu	missense variant	-	NC_000013.11:g.32687155A>C	gnomAD
rs923273558	p.Met409Ile	missense variant	-	NC_000013.11:g.32687157G>T	TOPMed,gnomAD
rs923273558	p.Met409Ile	missense variant	-	NC_000013.11:g.32687157G>A	TOPMed,gnomAD
rs201233373	p.Met410Leu	missense variant	-	NC_000013.11:g.32687158A>C	ESP,ExAC,TOPMed,gnomAD
rs1486858499	p.Ala413Val	missense variant	-	NC_000013.11:g.32687168C>T	gnomAD
rs760135184	p.Gln414His	missense variant	-	NC_000013.11:g.32687172A>C	ExAC,TOPMed,gnomAD
rs1433691100	p.Gln422Leu	missense variant	-	NC_000013.11:g.32687195A>T	gnomAD
COSM4816682	p.Ser423Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32687198C>T	NCI-TCGA Cosmic
rs187063067	p.Ala424Val	missense variant	-	NC_000013.11:g.32687201C>T	1000Genomes,TOPMed
rs770573615	p.Asp428Gly	missense variant	-	NC_000013.11:g.32687213A>G	TOPMed,gnomAD
rs1159366978	p.Ala429Val	missense variant	-	NC_000013.11:g.32687216C>T	gnomAD
rs777576101	p.Ala430Thr	missense variant	-	NC_000013.11:g.32687218G>A	ExAC,TOPMed,gnomAD
rs1292419350	p.Lys437Glu	missense variant	-	NC_000013.11:g.32687239A>G	gnomAD
rs1390704144	p.Asp438Glu	missense variant	-	NC_000013.11:g.32687244C>A	gnomAD
COSM469372	p.His442Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32687255A>C	NCI-TCGA Cosmic
rs1336099549	p.His442Tyr	missense variant	-	NC_000013.11:g.32687254C>T	gnomAD
rs757143130	p.Ile443Met	missense variant	-	NC_000013.11:g.32687259A>G	ExAC,TOPMed,gnomAD
rs781091794	p.Asn447Ser	missense variant	-	NC_000013.11:g.32687270A>G	ExAC,gnomAD
rs1020300073	p.Ser448Asn	missense variant	-	NC_000013.11:g.32687273G>A	TOPMed
rs1228033079	p.Ile449Val	missense variant	-	NC_000013.11:g.32687275A>G	TOPMed,gnomAD
COSM3468432	p.Arg452Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.32687284C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg452Gln	missense variant	-	NC_000013.11:g.32687285G>A	NCI-TCGA
rs369886085	p.Arg457Trp	missense variant	-	NC_000013.11:g.32688469C>T	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Arg457Gln	missense variant	-	NC_000013.11:g.32688470G>A	NCI-TCGA
rs1445854371	p.Ile458Thr	missense variant	-	NC_000013.11:g.32688473T>C	gnomAD
NCI-TCGA novel	p.Pro465His	missense variant	-	NC_000013.11:g.32688494C>A	NCI-TCGA
rs757012627	p.His466Tyr	missense variant	-	NC_000013.11:g.32688496C>T	ExAC,gnomAD
NCI-TCGA novel	p.Asn467Thr	missense variant	-	NC_000013.11:g.32688500A>C	NCI-TCGA
rs370614330	p.Glu469Gly	missense variant	-	NC_000013.11:g.32688506A>G	ESP,TOPMed
rs200569285	p.Thr471Ala	missense variant	-	NC_000013.11:g.32688511A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1302412247	p.Arg473Gln	missense variant	-	NC_000013.11:g.32688518G>A	gnomAD
rs1198049328	p.Lys475Asn	missense variant	-	NC_000013.11:g.32688525A>T	gnomAD
rs545451662	p.Cys476Arg	missense variant	-	NC_000013.11:g.32688526T>C	1000Genomes,ExAC,gnomAD
rs780044352	p.Cys476Trp	missense variant	-	NC_000013.11:g.32688528C>G	ExAC,TOPMed,gnomAD
rs1215043654	p.Leu480Phe	missense variant	-	NC_000013.11:g.32688540G>C	gnomAD
rs1274879984	p.Leu486Ile	missense variant	-	NC_000013.11:g.32688556T>A	gnomAD
rs1310155372	p.Asn487Ser	missense variant	-	NC_000013.11:g.32688560A>G	gnomAD
rs1274371425	p.Lys490Arg	missense variant	-	NC_000013.11:g.32688569A>G	gnomAD
NCI-TCGA novel	p.Glu494Ter	stop gained	-	NC_000013.11:g.32694233G>T	NCI-TCGA
rs766129931	p.Met495Val	missense variant	-	NC_000013.11:g.32694236A>G	ExAC,gnomAD
rs1490922857	p.Gln499Glu	missense variant	-	NC_000013.11:g.32694248C>G	gnomAD
rs1200647108	p.Arg503Gln	missense variant	-	NC_000013.11:g.32694261G>A	gnomAD
COSM6074226	p.Asp508Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32694275G>A	NCI-TCGA Cosmic
rs1363503512	p.Ile513Val	missense variant	-	NC_000013.11:g.32694290A>G	gnomAD
rs1246265175	p.Ile513Met	missense variant	-	NC_000013.11:g.32694292T>G	TOPMed
rs759453772	p.Lys514Met	missense variant	-	NC_000013.11:g.32694294A>T	ExAC,gnomAD
rs1253881522	p.Lys517Glu	missense variant	-	NC_000013.11:g.32694302A>G	TOPMed
rs756348587	p.Asp519Glu	missense variant	-	NC_000013.11:g.32696859T>A	ExAC,gnomAD
rs1324234828	p.Ala520Thr	missense variant	-	NC_000013.11:g.32696860G>A	TOPMed
rs1277283430	p.Ser521Gly	missense variant	-	NC_000013.11:g.32696863A>G	TOPMed
rs1276855995	p.Ser521Ile	missense variant	-	NC_000013.11:g.32696864G>T	gnomAD
rs1216586901	p.Val522Ile	missense variant	-	NC_000013.11:g.32696866G>A	TOPMed
rs766713161	p.Ile525Leu	missense variant	-	NC_000013.11:g.32696875A>T	ExAC,gnomAD
rs766713161	p.Ile525Val	missense variant	-	NC_000013.11:g.32696875A>G	ExAC,gnomAD
rs754216080	p.Ile525Met	missense variant	-	NC_000013.11:g.32696877A>G	ExAC,gnomAD
COSM6074225	p.Ser527Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32696882C>T	NCI-TCGA Cosmic
rs755415004	p.Ser527Pro	missense variant	-	NC_000013.11:g.32696881T>C	ExAC,TOPMed,gnomAD
rs905662202	p.Val529Leu	missense variant	-	NC_000013.11:g.32696887G>C	TOPMed
NCI-TCGA novel	p.Val529Leu	missense variant	-	NC_000013.11:g.32696887G>T	NCI-TCGA
rs1192303784	p.Met530Lys	missense variant	-	NC_000013.11:g.32696891T>A	gnomAD
rs999904089	p.Ile532Val	missense variant	-	NC_000013.11:g.32696896A>G	TOPMed
COSM3468434	p.Pro539Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32699744C>T	NCI-TCGA Cosmic
rs1385813419	p.Ala542Thr	missense variant	-	NC_000013.11:g.32699753G>A	gnomAD
rs763954128	p.Ala542Val	missense variant	-	NC_000013.11:g.32699754C>T	ExAC,gnomAD
rs368293336	p.Met546Thr	missense variant	-	NC_000013.11:g.32699766T>C	ESP,TOPMed,gnomAD
rs760869498	p.Met546Val	missense variant	-	NC_000013.11:g.32699765A>G	ExAC,gnomAD
rs1301702392	p.Phe549Leu	missense variant	-	NC_000013.11:g.32699774T>C	gnomAD
rs766659799	p.Val552Met	missense variant	-	NC_000013.11:g.32699783G>A	ExAC
NCI-TCGA novel	p.Glu557Lys	missense variant	-	NC_000013.11:g.32699798G>A	NCI-TCGA
NCI-TCGA novel	p.Arg560Lys	missense variant	-	NC_000013.11:g.32699808G>A	NCI-TCGA
rs1224355344	p.Lys561Arg	missense variant	-	NC_000013.11:g.32699811A>G	gnomAD
rs1185821488	p.Glu564Gln	missense variant	-	NC_000013.11:g.32699819G>C	TOPMed
rs754089644	p.Val565Ala	missense variant	-	NC_000013.11:g.32699823T>C	ExAC,gnomAD
rs755290106	p.Ser568Arg	missense variant	-	NC_000013.11:g.32699833T>A	ExAC,gnomAD
rs201690929	p.Pro569Ser	missense variant	-	NC_000013.11:g.32699834C>T	1000Genomes,ExAC,gnomAD
rs778143977	p.Thr570Ala	missense variant	-	NC_000013.11:g.32699837A>G	ExAC,gnomAD
rs1267939121	p.Ser572Phe	missense variant	-	NC_000013.11:g.32699844C>T	gnomAD
rs1490433505	p.Gln575His	missense variant	-	NC_000013.11:g.32699854G>C	gnomAD
NCI-TCGA novel	p.Ala576Thr	missense variant	-	NC_000013.11:g.32699855G>A	NCI-TCGA
rs770700386	p.Glu577Asp	missense variant	-	NC_000013.11:g.32699860A>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu577Lys	missense variant	-	NC_000013.11:g.32699858G>A	NCI-TCGA
rs780724468	p.Gly578Ala	missense variant	-	NC_000013.11:g.32699862G>C	ExAC,gnomAD
rs1209124850	p.Val580Met	missense variant	-	NC_000013.11:g.32699867G>A	TOPMed
rs755726788	p.Arg581His	missense variant	-	NC_000013.11:g.32701324G>A	ExAC,gnomAD
rs749950731	p.Arg581Cys	missense variant	-	NC_000013.11:g.32701323C>T	ExAC,gnomAD
rs1425810502	p.Glu582Asp	missense variant	-	NC_000013.11:g.32701328A>T	gnomAD
COSM4047119	p.Thr584Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32701333C>G	NCI-TCGA Cosmic
rs779604613	p.Gly588Cys	missense variant	-	NC_000013.11:g.32701344G>T	ExAC,gnomAD
rs1168484452	p.Asn589Asp	missense variant	-	NC_000013.11:g.32701347A>G	TOPMed
rs1461687269	p.Asn589Ser	missense variant	-	NC_000013.11:g.32701348A>G	TOPMed,gnomAD
rs749063180	p.Pro590Leu	missense variant	-	NC_000013.11:g.32701351C>T	ExAC,gnomAD
rs1375794456	p.Gln592Glu	missense variant	-	NC_000013.11:g.32701356C>G	gnomAD
NCI-TCGA novel	p.Pro596Leu	missense variant	-	NC_000013.11:g.32701369C>T	NCI-TCGA
rs778808858	p.Met600Val	missense variant	-	NC_000013.11:g.32701380A>G	ExAC,gnomAD
rs748091825	p.Lys602Arg	missense variant	-	NC_000013.11:g.32701387A>G	ExAC,gnomAD
COSM3813733	p.Leu604Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32701392C>A	NCI-TCGA Cosmic
rs1366541053	p.Ile608Val	missense variant	-	NC_000013.11:g.32701404A>G	TOPMed
COSM946927	p.Pro610Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32701411C>T	NCI-TCGA Cosmic
rs1475338159	p.Ile613Val	missense variant	-	NC_000013.11:g.32701419A>G	TOPMed
COSM469373	p.Asp614Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32701422G>A	NCI-TCGA Cosmic
rs1158019592	p.Thr615Ala	missense variant	-	NC_000013.11:g.32701425A>G	gnomAD
rs1252757251	p.Thr615Asn	missense variant	-	NC_000013.11:g.32701426C>A	gnomAD
rs1012892127	p.Glu616Lys	missense variant	-	NC_000013.11:g.32701428G>A	TOPMed,gnomAD
COSM4047120	p.Ser617Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32701432C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser617Pro	missense variant	-	NC_000013.11:g.32701431T>C	NCI-TCGA
rs770013286	p.Ile618Val	missense variant	-	NC_000013.11:g.32701434A>G	ExAC,gnomAD
rs1483782321	p.Ile618Ser	missense variant	-	NC_000013.11:g.32701435T>G	TOPMed
rs1316280392	p.Ile622Val	missense variant	-	NC_000013.11:g.32706941A>G	gnomAD
NCI-TCGA novel	p.Gln624Leu	missense variant	-	NC_000013.11:g.32706948A>T	NCI-TCGA
rs745907437	p.Val625Met	missense variant	-	NC_000013.11:g.32706950G>A	ExAC,gnomAD
COSM1322906	p.Lys627Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32706956A>G	NCI-TCGA Cosmic
COSM1477202	p.Ser628Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32706960C>T	NCI-TCGA Cosmic
rs769735925	p.Ile629Val	missense variant	-	NC_000013.11:g.32706962A>G	ExAC,gnomAD
rs373985167	p.Asp630Glu	missense variant	-	NC_000013.11:g.32706967T>A	ESP,ExAC,TOPMed,gnomAD
rs1283605513	p.Ala633Thr	missense variant	-	NC_000013.11:g.32706974G>A	gnomAD
NCI-TCGA novel	p.Ala633Ser	missense variant	-	NC_000013.11:g.32706974G>T	NCI-TCGA
rs1211341519	p.Gly639Arg	missense variant	-	NC_000013.11:g.32706992G>C	TOPMed,gnomAD
rs769114985	p.Thr642Ala	missense variant	-	NC_000013.11:g.32707001A>G	ExAC,gnomAD
rs774633053	p.Asp643Glu	missense variant	-	NC_000013.11:g.32707006T>G	ExAC,gnomAD
rs141013786	p.Gln644Glu	missense variant	-	NC_000013.11:g.32707007C>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile646SerPheSerTerUnkUnk	frameshift	-	NC_000013.11:g.32707013A>-	NCI-TCGA
COSM1477203	p.Arg647Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32707017G>A	NCI-TCGA Cosmic
rs1430299859	p.Ala648Val	missense variant	-	NC_000013.11:g.32707020C>T	gnomAD
NCI-TCGA novel	p.Ala648Thr	missense variant	-	NC_000013.11:g.32707019G>A	NCI-TCGA
rs773691423	p.His660Tyr	missense variant	-	NC_000013.11:g.32709961C>T	ExAC,gnomAD
rs761071669	p.Ile662Thr	missense variant	-	NC_000013.11:g.32709968T>C	ExAC,gnomAD
rs1448414572	p.Ser663Pro	missense variant	-	NC_000013.11:g.32709970T>C	gnomAD
NCI-TCGA novel	p.Ser663Ter	stop gained	-	NC_000013.11:g.32709971C>A	NCI-TCGA
rs200904367	p.His665Tyr	missense variant	-	NC_000013.11:g.32709976C>T	1000Genomes,ExAC,gnomAD
rs1036621710	p.Ser666Cys	missense variant	-	NC_000013.11:g.32709980C>G	TOPMed
rs775936578	p.Ala667Pro	missense variant	-	NC_000013.11:g.32709982G>C	ExAC,TOPMed,gnomAD
rs1245817177	p.Ala667Val	missense variant	-	NC_000013.11:g.32709983C>T	gnomAD
rs1292973675	p.Phe670Cys	missense variant	-	NC_000013.11:g.32709992T>G	gnomAD
rs1358832782	p.Glu671Gln	missense variant	-	NC_000013.11:g.32709994G>C	gnomAD
rs201409031	p.Cys676Phe	missense variant	-	NC_000013.11:g.32710010G>T	ExAC,gnomAD
rs763970274	p.Lys678Ter	stop gained	-	NC_000013.11:g.32710015A>T	ExAC,gnomAD
rs751386086	p.Met679Lys	missense variant	-	NC_000013.11:g.32710019T>A	ExAC
rs1184067850	p.Glu682Gly	missense variant	-	NC_000013.11:g.32710028A>G	gnomAD
rs757080546	p.Val684Gly	missense variant	-	NC_000013.11:g.32710034T>G	ExAC,gnomAD
rs1410411660	p.Glu686Gly	missense variant	-	NC_000013.11:g.32710040A>G	TOPMed
rs568979193	p.Ala687Gly	missense variant	-	NC_000013.11:g.32710043C>G	1000Genomes
rs781224937	p.Ala687Ser	missense variant	-	NC_000013.11:g.32710042G>T	ExAC,gnomAD
NCI-TCGA novel	p.Gln690His	missense variant	-	NC_000013.11:g.32710053A>C	NCI-TCGA
NCI-TCGA novel	p.Ile691PhePheSerTerUnkUnk	frameshift	-	NC_000013.11:g.32710052A>-	NCI-TCGA
rs1167083521	p.Phe692Leu	missense variant	-	NC_000013.11:g.32710057T>C	gnomAD
rs749278869	p.Lys693Arg	missense variant	-	NC_000013.11:g.32710061A>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys693GlnPheSerTerUnk	frameshift	-	NC_000013.11:g.32710054_32710055insT	NCI-TCGA
rs779006241	p.Ser697Gly	missense variant	-	NC_000013.11:g.32710072A>G	ExAC,TOPMed,gnomAD
rs536413051	p.Ser697Asn	missense variant	-	NC_000013.11:g.32710073G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1452557557	p.Lys698Arg	missense variant	-	NC_000013.11:g.32710076A>G	gnomAD
NCI-TCGA novel	p.Lys698Glu	missense variant	-	NC_000013.11:g.32710075A>G	NCI-TCGA
rs1314152520	p.Ile699Val	missense variant	-	NC_000013.11:g.32710078A>G	gnomAD
rs772336273	p.Glu701Asp	missense variant	-	NC_000013.11:g.32710086G>C	ExAC,gnomAD
NCI-TCGA novel	p.Ile706GlnPheSerTerUnkUnk	frameshift	-	NC_000013.11:g.32710094_32710095CA>-	NCI-TCGA
rs1340361230	p.Arg707Ser	missense variant	-	NC_000013.11:g.32710104A>C	TOPMed,gnomAD
NCI-TCGA novel	p.Ser708Leu	missense variant	-	NC_000013.11:g.32710106C>T	NCI-TCGA
rs775076226	p.Leu714Val	missense variant	-	NC_000013.11:g.32732117T>G	ExAC,gnomAD
rs762588126	p.His715Leu	missense variant	-	NC_000013.11:g.32732121A>T	ExAC,gnomAD
rs762588126	p.His715Arg	missense variant	-	NC_000013.11:g.32732121A>G	ExAC,gnomAD
rs768148525	p.His716Tyr	missense variant	-	NC_000013.11:g.32732123C>T	ExAC,TOPMed,gnomAD
rs569961723	p.His716Arg	missense variant	-	NC_000013.11:g.32732124A>G	1000Genomes,ExAC,gnomAD
rs1177643357	p.Lys717Thr	missense variant	-	NC_000013.11:g.32732127A>C	gnomAD
rs919311339	p.Lys719Arg	missense variant	-	NC_000013.11:g.32732133A>G	TOPMed,gnomAD
rs919311339	p.Lys719Thr	missense variant	-	NC_000013.11:g.32732133A>C	TOPMed,gnomAD
rs537445322	p.Lys720Arg	missense variant	-	NC_000013.11:g.32732136A>G	1000Genomes
COSM4713417	p.Gly721AspPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.32732132A>-	NCI-TCGA Cosmic
COSM5039906	p.Gly721Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32732138G>A	NCI-TCGA Cosmic
COSM2071748	p.Arg724ValPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.32732141C>-	NCI-TCGA Cosmic
rs767341994	p.Arg724Cys	missense variant	-	NC_000013.11:g.32732147C>T	NCI-TCGA,NCI-TCGA Cosmic
rs767341994	p.Arg724Cys	missense variant	-	NC_000013.11:g.32732147C>T	ExAC,gnomAD
rs752733557	p.Ile730Val	missense variant	-	NC_000013.11:g.32732165A>G	ExAC,gnomAD
rs758492069	p.His731Tyr	missense variant	-	NC_000013.11:g.32732168C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ile733Ser	missense variant	-	NC_000013.11:g.32732175T>G	NCI-TCGA
rs777760743	p.His734Arg	missense variant	-	NC_000013.11:g.32732178A>G	ExAC,gnomAD
rs777760743	p.His734Pro	missense variant	-	NC_000013.11:g.32732178A>C	ExAC,gnomAD
rs751771151	p.Ala735Val	missense variant	-	NC_000013.11:g.32732181C>T	ExAC,gnomAD
rs781565299	p.Ile736Met	missense variant	-	NC_000013.11:g.32732185A>G	ExAC
NCI-TCGA novel	p.Ser738Pro	missense variant	-	NC_000013.11:g.32732189T>C	NCI-TCGA
NCI-TCGA novel	p.Ser738Tyr	missense variant	-	NC_000013.11:g.32732190C>A	NCI-TCGA
rs1290709624	p.Ser739Gly	missense variant	-	NC_000013.11:g.32732192A>G	gnomAD
rs1192513832	p.Lys740Arg	missense variant	-	NC_000013.11:g.32732196A>G	TOPMed,gnomAD
rs1488618488	p.Lys740Glu	missense variant	-	NC_000013.11:g.32732195A>G	gnomAD
rs1247813471	p.Thr742Ile	missense variant	-	NC_000013.11:g.32732202C>T	gnomAD
COSM4047122	p.Phe744Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32732207T>C	NCI-TCGA Cosmic
rs1355073020	p.Phe744Val	missense variant	-	NC_000013.11:g.32732207T>G	TOPMed
rs1455062571	p.Ile747Leu	missense variant	-	NC_000013.11:g.32732216A>T	TOPMed
NCI-TCGA novel	p.Pro750Thr	missense variant	-	NC_000013.11:g.32735172C>A	NCI-TCGA
rs201553782	p.His752Leu	missense variant	-	NC_000013.11:g.32735179A>T	ESP,ExAC,TOPMed,gnomAD
rs751646556	p.Lys753Asn	missense variant	-	NC_000013.11:g.32735183G>C	ExAC,TOPMed,gnomAD
rs757437802	p.Pro757Leu	missense variant	-	NC_000013.11:g.32735194C>T	ExAC,gnomAD
rs1390006441	p.Asn759Lys	missense variant	-	NC_000013.11:g.32735201C>G	TOPMed
rs1353018939	p.Leu760Pro	missense variant	-	NC_000013.11:g.32735203T>C	gnomAD
rs777243341	p.Leu760Val	missense variant	-	NC_000013.11:g.32735202C>G	ExAC,gnomAD
COSM3468435	p.Glu761Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32735205G>A	NCI-TCGA Cosmic
rs1166939493	p.Glu761Gln	missense variant	-	NC_000013.11:g.32735205G>C	TOPMed
rs969697140	p.Glu761Asp	missense variant	-	NC_000013.11:g.32735207A>C	TOPMed
rs1461635470	p.Glu761Gly	missense variant	-	NC_000013.11:g.32735206A>G	gnomAD
rs756528524	p.His762Tyr	missense variant	-	NC_000013.11:g.32735208C>T	ExAC,TOPMed,gnomAD
rs1181303141	p.Leu763Val	missense variant	-	NC_000013.11:g.32735211C>G	TOPMed
rs780606336	p.Ile764Val	missense variant	-	NC_000013.11:g.32735214A>G	ExAC,gnomAD
rs759929528	p.Thr765Ala	missense variant	-	NC_000013.11:g.32735217A>G	ExAC,gnomAD
rs759929528	p.Thr765Ser	missense variant	-	NC_000013.11:g.32735217A>T	ExAC,gnomAD
rs755496373	p.Pro766Ser	missense variant	-	NC_000013.11:g.32735220C>T	ExAC,gnomAD
rs755496373	p.Pro766Thr	missense variant	-	NC_000013.11:g.32735220C>A	ExAC,gnomAD
rs755496373	p.Pro766Ser	missense variant	-	NC_000013.11:g.32735220C>T	NCI-TCGA
rs747614808	p.Ile770Val	missense variant	-	NC_000013.11:g.32735232A>G	ExAC,gnomAD
rs747614808	p.Ile770Leu	missense variant	-	NC_000013.11:g.32735232A>C	ExAC,gnomAD
rs771715623	p.Leu775Val	missense variant	-	NC_000013.11:g.32735247C>G	ExAC,TOPMed,gnomAD
rs771715623	p.Leu775Phe	missense variant	-	NC_000013.11:g.32735247C>T	ExAC,TOPMed,gnomAD
rs772872687	p.Ala777Val	missense variant	-	NC_000013.11:g.32735254C>T	ExAC,gnomAD
rs746709122	p.Pro778Ser	missense variant	-	NC_000013.11:g.32735256C>T	ExAC,TOPMed,gnomAD
rs1483847950	p.Ala783Pro	missense variant	-	NC_000013.11:g.32735271G>C	gnomAD
rs1273699173	p.Ala790Val	missense variant	-	NC_000013.11:g.32735293C>T	TOPMed
rs958158846	p.Phe792Tyr	missense variant	-	NC_000013.11:g.32735299T>A	TOPMed
NCI-TCGA novel	p.Leu797Phe	missense variant	-	NC_000013.11:g.32735313C>T	NCI-TCGA
rs761825713	p.Arg802Trp	missense variant	-	NC_000013.11:g.32735328C>T	ExAC,TOPMed,gnomAD
rs1011247880	p.Arg802Gln	missense variant	-	NC_000013.11:g.32735329G>A	-
rs1011247880	p.Arg802Gln	missense variant	-	NC_000013.11:g.32735329G>A	NCI-TCGA Cosmic
rs761825713	p.Arg802Trp	missense variant	-	NC_000013.11:g.32735328C>T	NCI-TCGA
rs759839732	p.Leu803Phe	missense variant	-	NC_000013.11:g.32741080C>T	ExAC
rs1353592337	p.Pro804Thr	missense variant	-	NC_000013.11:g.32741083C>A	NCI-TCGA
rs1359315669	p.Pro804Gln	missense variant	-	NC_000013.11:g.32741084C>A	TOPMed,gnomAD
rs1353592337	p.Pro804Thr	missense variant	-	NC_000013.11:g.32741083C>A	gnomAD
rs1359315669	p.Pro804Leu	missense variant	-	NC_000013.11:g.32741084C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Pro804Ser	missense variant	-	NC_000013.11:g.32741083C>T	NCI-TCGA
rs1217844063	p.Gly805Glu	missense variant	-	NC_000013.11:g.32741087G>A	gnomAD
rs1288536328	p.Lys806Glu	missense variant	-	NC_000013.11:g.32741089A>G	gnomAD
NCI-TCGA novel	p.Lys807ArgPheSerTerUnkUnk	frameshift	-	NC_000013.11:g.32741089A>-	NCI-TCGA
rs765682907	p.Thr809Ala	missense variant	-	NC_000013.11:g.32741098A>G	ExAC,gnomAD
rs753108964	p.Thr809Ser	missense variant	-	NC_000013.11:g.32741099C>G	ExAC,gnomAD
rs375941657	p.Pro814Ser	missense variant	-	NC_000013.11:g.32741113C>T	ESP,ExAC,TOPMed,gnomAD
rs1200835274	p.Asp815Val	missense variant	-	NC_000013.11:g.32741117A>T	TOPMed
rs751080949	p.Asp815His	missense variant	-	NC_000013.11:g.32741116G>C	ExAC,TOPMed,gnomAD
COSM3369063	p.Glu816Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32741119G>A	NCI-TCGA Cosmic
rs1420192513	p.Val818Ile	missense variant	-	NC_000013.11:g.32741125G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Val818Leu	missense variant	-	NC_000013.11:g.32741125G>C	NCI-TCGA
rs756866518	p.Ser819Ala	missense variant	-	NC_000013.11:g.32741128T>G	ExAC,gnomAD
COSM1300164	p.Glu821Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32741134G>C	NCI-TCGA Cosmic
rs200545607	p.Met823Val	missense variant	-	NC_000013.11:g.32741140A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs751024805	p.Ala828Ser	missense variant	-	NC_000013.11:g.32742597G>T	ExAC,gnomAD
rs756741816	p.Met832Leu	missense variant	-	NC_000013.11:g.32742609A>T	ExAC,gnomAD
rs1251740461	p.Val833Ile	missense variant	-	NC_000013.11:g.32742612G>A	gnomAD
COSM262892	p.Arg834Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.32742615C>T	NCI-TCGA Cosmic
rs1448343235	p.Arg834Gln	missense variant	-	NC_000013.11:g.32742616G>A	gnomAD
rs1448343235	p.Arg834Gln	missense variant	-	NC_000013.11:g.32742616G>A	NCI-TCGA
COSM469374	p.Trp835Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.32742620G>A	NCI-TCGA Cosmic
rs780799154	p.Leu837Phe	missense variant	-	NC_000013.11:g.32742624C>T	ExAC,gnomAD
rs1455975588	p.Asn841Ser	missense variant	-	NC_000013.11:g.32742637A>G	gnomAD
rs575547797	p.His843Tyr	missense variant	-	NC_000013.11:g.32742642C>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.His843Asn	missense variant	-	NC_000013.11:g.32742642C>A	NCI-TCGA
NCI-TCGA novel	p.Lys845Glu	missense variant	-	NC_000013.11:g.32742648A>G	NCI-TCGA
NCI-TCGA novel	p.Lys845Arg	missense variant	-	NC_000013.11:g.32742649A>G	NCI-TCGA
NCI-TCGA novel	p.Gly847Arg	missense variant	-	NC_000013.11:g.32742654G>A	NCI-TCGA
rs754928363	p.Thr848Ile	missense variant	-	NC_000013.11:g.32742658C>T	ExAC,gnomAD
rs749100665	p.Thr848Ser	missense variant	-	NC_000013.11:g.32742657A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg852Ile	missense variant	-	NC_000013.11:g.32742670G>T	NCI-TCGA
rs771103165	p.Thr856Ala	missense variant	-	NC_000013.11:g.32742681A>G	ExAC,gnomAD
rs9591299	p.Ile857Val	missense variant	-	NC_000013.11:g.32742684A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs9591299	p.Ile857Leu	missense variant	-	NC_000013.11:g.32742684A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1229074397	p.His859Arg	missense variant	-	NC_000013.11:g.32742691A>G	NCI-TCGA Cosmic
rs1229074397	p.His859Arg	missense variant	-	NC_000013.11:g.32742691A>G	TOPMed
rs746061423	p.Ser860Gly	missense variant	-	NC_000013.11:g.32742693A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asp863Glu	missense variant	-	NC_000013.11:g.32742704C>A	NCI-TCGA
NCI-TCGA novel	p.Glu866Ter	stop gained	-	NC_000013.11:g.32742711G>T	NCI-TCGA
rs770066127	p.Lys869Asn	missense variant	-	NC_000013.11:g.32742722A>T	ExAC,gnomAD
rs1282244544	p.Ser871Cys	missense variant	-	NC_000013.11:g.32742726A>T	TOPMed
rs1030903801	p.Lys872Glu	missense variant	-	NC_000013.11:g.32745978A>G	TOPMed
rs781070954	p.Asp874Tyr	missense variant	-	NC_000013.11:g.32745984G>T	ExAC,gnomAD
rs775534093	p.Met875Thr	missense variant	-	NC_000013.11:g.32745988T>C	ExAC,gnomAD
rs1346874315	p.Met875Ile	missense variant	-	NC_000013.11:g.32745989G>A	TOPMed
rs1329917777	p.Arg877His	missense variant	-	NC_000013.11:g.32745994G>A	gnomAD
rs1275003751	p.Ala881Thr	missense variant	-	NC_000013.11:g.32746005G>A	TOPMed
NCI-TCGA novel	p.Ser884Cys	missense variant	-	NC_000013.11:g.32746014A>T	NCI-TCGA
rs769865449	p.Ala885Gly	missense variant	-	NC_000013.11:g.32746018C>G	ExAC,gnomAD
rs373562128	p.Ile886Phe	missense variant	-	NC_000013.11:g.32746020A>T	ESP,ExAC,TOPMed,gnomAD
rs373562128	p.Ile886Val	missense variant	-	NC_000013.11:g.32746020A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu892Lys	missense variant	-	NC_000013.11:g.32746038G>A	NCI-TCGA
rs1297941540	p.His896Tyr	missense variant	-	NC_000013.11:g.32746050C>T	gnomAD
NCI-TCGA novel	p.Glu897Lys	missense variant	-	NC_000013.11:g.32746053G>A	NCI-TCGA
rs1341398463	p.Ile898Val	missense variant	-	NC_000013.11:g.32746056A>G	gnomAD
rs1299286042	p.Glu902Gly	missense variant	-	NC_000013.11:g.32746069A>G	gnomAD
NCI-TCGA novel	p.Gln903Leu	missense variant	-	NC_000013.11:g.32746072A>T	NCI-TCGA
NCI-TCGA novel	p.Tyr904His	missense variant	-	NC_000013.11:g.32746074T>C	NCI-TCGA
rs762250547	p.Ala910Ser	missense variant	-	NC_000013.11:g.32746092G>T	ExAC,gnomAD
rs544071856	p.Ile911Val	missense variant	-	NC_000013.11:g.32746095A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs772558626	p.Asn912Asp	missense variant	-	NC_000013.11:g.32746098A>G	ExAC,TOPMed,gnomAD
rs368282660	p.Asp913Gly	missense variant	-	NC_000013.11:g.32753333A>G	ESP,ExAC,TOPMed,gnomAD
rs773744529	p.Tyr916Cys	missense variant	-	NC_000013.11:g.32753342A>G	ExAC,gnomAD
NCI-TCGA novel	p.Gln917Glu	missense variant	-	NC_000013.11:g.32753344C>G	NCI-TCGA
rs1434238061	p.Gln920Arg	missense variant	-	NC_000013.11:g.32753354A>G	TOPMed
COSM3885252	p.Val921Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32753356G>A	NCI-TCGA Cosmic
rs770557336	p.Val921Leu	missense variant	-	NC_000013.11:g.32753356G>T	ExAC,TOPMed,gnomAD
rs1226440830	p.Ala923Thr	missense variant	-	NC_000013.11:g.32753362G>A	gnomAD
NCI-TCGA novel	p.Leu930Ile	missense variant	-	NC_000013.11:g.32753383C>A	NCI-TCGA
NCI-TCGA novel	p.Ser931Phe	missense variant	-	NC_000013.11:g.32753387C>T	NCI-TCGA
rs752499156	p.Arg932Cys	missense variant	-	NC_000013.11:g.32753389C>T	ExAC,TOPMed,gnomAD
rs762827021	p.Arg932His	missense variant	-	NC_000013.11:g.32753390G>A	ExAC,gnomAD
rs762827021	p.Arg932His	missense variant	-	NC_000013.11:g.32753390G>A	NCI-TCGA,NCI-TCGA Cosmic
rs752499156	p.Arg932Gly	missense variant	-	NC_000013.11:g.32753389C>G	ExAC,TOPMed,gnomAD
rs751511121	p.Arg934Gln	missense variant	-	NC_000013.11:g.32753396G>A	ExAC,TOPMed,gnomAD
rs763837658	p.Arg934Trp	missense variant	-	NC_000013.11:g.32753395C>T	NCI-TCGA,NCI-TCGA Cosmic
rs763837658	p.Arg934Trp	missense variant	-	NC_000013.11:g.32753395C>T	ExAC,TOPMed,gnomAD
rs1481883016	p.Pro936Ser	missense variant	-	NC_000013.11:g.32753401C>T	gnomAD
rs1346595719	p.Leu937Val	missense variant	-	NC_000013.11:g.32753404C>G	TOPMed
COSM3399346	p.Glu938Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32753407G>C	NCI-TCGA Cosmic
rs1457455796	p.Ile942Val	missense variant	-	NC_000013.11:g.32753419A>G	gnomAD
rs780051189	p.Ile942Met	missense variant	-	NC_000013.11:g.32753421C>G	ExAC,gnomAD
COSM946933	p.Asp949Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32753440G>T	NCI-TCGA Cosmic
rs755156362	p.Pro950Thr	missense variant	-	NC_000013.11:g.32753443C>A	ExAC,TOPMed,gnomAD
rs181714377	p.Glu953Asp	missense variant	-	NC_000013.11:g.32753454G>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Glu953Gly	missense variant	-	NC_000013.11:g.32753453A>G	NCI-TCGA
rs1163499157	p.Val963Leu	missense variant	-	NC_000013.11:g.32753482G>C	gnomAD
COSM267159	p.Asn965Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32753488A>G	NCI-TCGA Cosmic
rs1402415374	p.Val968Ile	missense variant	-	NC_000013.11:g.32753497G>A	gnomAD
rs772449393	p.Arg970Trp	missense variant	-	NC_000013.11:g.32753503C>T	ExAC,TOPMed,gnomAD
rs778062577	p.Arg970Gln	missense variant	-	NC_000013.11:g.32753504G>A	ExAC,gnomAD
rs771577580	p.Tyr972Cys	missense variant	-	NC_000013.11:g.32753510A>G	ExAC,gnomAD
NCI-TCGA novel	p.Tyr972Ter	stop gained	-	NC_000013.11:g.32753510_32753511insACAACTTCAGATATAAAATTTGCTAT	NCI-TCGA
rs1347734811	p.Lys982Arg	missense variant	-	NC_000013.11:g.32755845A>G	gnomAD
rs1366169340	p.Leu984Phe	missense variant	-	NC_000013.11:g.32755852G>C	gnomAD
rs1218236168	p.Tyr990Cys	missense variant	-	NC_000013.11:g.32755869A>G	TOPMed
rs368991844	p.Val992Ile	missense variant	-	NC_000013.11:g.32755874G>A	ESP,ExAC,TOPMed,gnomAD
rs376918130	p.Ile996Val	missense variant	-	NC_000013.11:g.32755886A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His997Asp	missense variant	-	NC_000013.11:g.32755889C>G	NCI-TCGA
COSM75898	p.Leu999Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32755897G>T	NCI-TCGA Cosmic
rs1450041298	p.Leu999Ser	missense variant	-	NC_000013.11:g.32755896T>C	gnomAD
rs751901764	p.Asp1002Val	missense variant	-	NC_000013.11:g.32755905A>T	ExAC,gnomAD
rs1287560671	p.Val1006Phe	missense variant	-	NC_000013.11:g.32755916G>T	TOPMed
rs1379599405	p.Lys1007Arg	missense variant	-	NC_000013.11:g.32755920A>G	gnomAD
rs1346105327	p.Asp1010His	missense variant	-	NC_000013.11:g.32755928G>C	TOPMed
rs757672463	p.Ile1011Leu	missense variant	-	NC_000013.11:g.32755931A>C	ExAC,gnomAD
rs781733468	p.Lys1015Glu	missense variant	-	NC_000013.11:g.32755943A>G	ExAC,gnomAD
rs1404344387	p.Val1017Ile	missense variant	-	NC_000013.11:g.32755949G>A	gnomAD
rs775599012	p.Glu1019Asp	missense variant	-	NC_000013.11:g.32758087A>T	ExAC,gnomAD
rs1392417853	p.Cys1020Phe	missense variant	-	NC_000013.11:g.32758089G>T	TOPMed,gnomAD
rs762964326	p.Leu1021Phe	missense variant	-	NC_000013.11:g.32758091C>T	ExAC,TOPMed,gnomAD
rs1294188172	p.Trp1022Cys	missense variant	-	NC_000013.11:g.32758096G>T	gnomAD
rs1447745460	p.Trp1022Leu	missense variant	-	NC_000013.11:g.32758095G>T	TOPMed,gnomAD
rs1357574243	p.Val1024Phe	missense variant	-	NC_000013.11:g.32758100G>T	TOPMed,gnomAD
rs1216910575	p.Leu1025Val	missense variant	-	NC_000013.11:g.32758103C>G	gnomAD
rs751798602	p.Leu1028Ile	missense variant	-	NC_000013.11:g.32758112T>A	ExAC,gnomAD
NCI-TCGA novel	p.Met1029Ile	missense variant	-	NC_000013.11:g.32758117G>C	NCI-TCGA
rs767936982	p.Glu1033Asp	missense variant	-	NC_000013.11:g.32758129A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn1034Thr	missense variant	-	NC_000013.11:g.32758131A>C	NCI-TCGA
rs1276414537	p.Asn1035Ser	missense variant	-	NC_000013.11:g.32758134A>G	gnomAD
rs1276414537	p.Asn1035Ser	missense variant	-	NC_000013.11:g.32758134A>G	NCI-TCGA
rs1441692805	p.Ser1036Thr	missense variant	-	NC_000013.11:g.32758137G>C	gnomAD
rs750822666	p.His1037Tyr	missense variant	-	NC_000013.11:g.32758139C>T	ExAC,TOPMed,gnomAD
rs780451612	p.Ala1038Thr	missense variant	-	NC_000013.11:g.32758142G>A	ExAC,TOPMed,gnomAD
rs780451612	p.Ala1038Thr	missense variant	-	NC_000013.11:g.32758142G>A	NCI-TCGA
rs1394533834	p.Lys1042Arg	missense variant	-	NC_000013.11:g.32758155A>G	TOPMed
NCI-TCGA novel	p.Met1043Ile	inframe deletion	-	NC_000013.11:g.32758158_32758160TGG>-	NCI-TCGA
rs1463064929	p.Val1044Ala	missense variant	-	NC_000013.11:g.32758161T>C	gnomAD
rs778555380	p.Glu1045Gln	missense variant	-	NC_000013.11:g.32758163G>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu1045Asp	missense variant	-	NC_000013.11:g.32758165A>C	NCI-TCGA
rs1400662234	p.Ile1047Thr	missense variant	-	NC_000013.11:g.32758170T>C	gnomAD
rs747783591	p.Thr1050Arg	missense variant	-	NC_000013.11:g.32758179C>G	ExAC,TOPMed,gnomAD
rs1313827404	p.Asp1057Asn	missense variant	-	NC_000013.11:g.32758199G>A	gnomAD
rs187975521	p.Ala1059Val	missense variant	-	NC_000013.11:g.32758206C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1398322380	p.Met1061Ile	missense variant	-	NC_000013.11:g.32758213G>T	gnomAD
rs1260986490	p.Thr1067Ser	missense variant	-	NC_000013.11:g.32758544C>G	gnomAD
rs368655122	p.Thr1067Ala	missense variant	-	NC_000013.11:g.32758543A>G	ESP,ExAC,gnomAD
rs745736876	p.Val1071Ile	missense variant	-	NC_000013.11:g.32758555G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala1072Val	missense variant	-	NC_000013.11:g.32758559C>T	NCI-TCGA
rs769776320	p.Ile1076Val	missense variant	-	NC_000013.11:g.32758570A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys1079Asn	missense variant	-	NC_000013.11:g.32758581G>T	NCI-TCGA
rs1265987542	p.Thr1082Ser	missense variant	-	NC_000013.11:g.32758588A>T	gnomAD
rs1258137004	p.Leu1085Ser	missense variant	-	NC_000013.11:g.32758598T>C	gnomAD
rs773541144	p.Pro1088Ser	missense variant	-	NC_000013.11:g.32758606C>T	ExAC,gnomAD
rs1438266408	p.Lys1089Glu	missense variant	-	NC_000013.11:g.32758609A>G	gnomAD
rs942804283	p.Asp1090His	missense variant	-	NC_000013.11:g.32758612G>C	TOPMed
NCI-TCGA novel	p.Pro1091GlyPheSerTerUnkUnk	frameshift	-	NC_000013.11:g.32758614_32758615CC>-	NCI-TCGA
rs935875113	p.Val1092Ile	missense variant	-	NC_000013.11:g.32758618G>A	TOPMed,gnomAD
rs935875113	p.Val1092Leu	missense variant	-	NC_000013.11:g.32758618G>T	TOPMed,gnomAD
rs777063647	p.Arg1096His	missense variant	-	NC_000013.11:g.32758631G>A	ExAC,TOPMed,gnomAD
rs1390184939	p.Arg1096Cys	missense variant	-	NC_000013.11:g.32758630C>T	gnomAD
rs765759745	p.Gln1100His	missense variant	-	NC_000013.11:g.32758644A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln1100Lys	missense variant	-	NC_000013.11:g.32758642C>A	NCI-TCGA
rs752150928	p.Pro1101Ser	missense variant	-	NC_000013.11:g.32758645C>T	ExAC,gnomAD
rs757880615	p.Pro1101His	missense variant	-	NC_000013.11:g.32758646C>A	ExAC,gnomAD
rs1052176017	p.Asn1104Ser	missense variant	-	NC_000013.11:g.32759629A>G	TOPMed
rs1255552301	p.Phe1105Val	missense variant	-	NC_000013.11:g.32759631T>G	gnomAD
rs1204511439	p.Thr1108Ser	missense variant	-	NC_000013.11:g.32759641C>G	gnomAD
rs1293937286	p.Asn1110Ser	missense variant	-	NC_000013.11:g.32759647A>G	TOPMed
NCI-TCGA novel	p.Tyr1111Cys	missense variant	-	NC_000013.11:g.32759650A>G	NCI-TCGA
COSM3468436	p.Met1116Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32759666G>C	NCI-TCGA Cosmic
rs1007855930	p.Met1116Ile	missense variant	-	NC_000013.11:g.32759666G>A	TOPMed
rs1007855930	p.Met1116Ile	missense variant	-	NC_000013.11:g.32759666G>A	NCI-TCGA Cosmic
rs1475635962	p.Phe1120Cys	missense variant	-	NC_000013.11:g.32759677T>G	gnomAD
rs763517620	p.Thr1121Ser	missense variant	-	NC_000013.11:g.32759680C>G	ExAC,gnomAD
rs1286379643	p.Lys1124Ile	missense variant	-	NC_000013.11:g.32759689A>T	TOPMed
rs1332084700	p.Pro1125Ser	missense variant	-	NC_000013.11:g.32760575C>T	TOPMed,gnomAD
rs763385447	p.Thr1127Ala	missense variant	-	NC_000013.11:g.32760581A>G	ExAC,gnomAD
rs1454677486	p.Thr1127Lys	missense variant	-	NC_000013.11:g.32760582C>A	TOPMed
rs773686532	p.Asn1129Ser	missense variant	-	NC_000013.11:g.32760588A>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly1132Arg	missense variant	-	NC_000013.11:g.32760596G>C	NCI-TCGA
rs761365360	p.Val1134Ile	missense variant	-	NC_000013.11:g.32760602G>A	ExAC,gnomAD
rs761365360	p.Val1134Phe	missense variant	-	NC_000013.11:g.32760602G>T	ExAC,gnomAD
rs750089431	p.Asn1135Lys	missense variant	-	NC_000013.11:g.32760607C>A	ExAC,gnomAD
rs766221676	p.Pro1137Ser	missense variant	-	NC_000013.11:g.32760611C>T	ExAC,TOPMed,gnomAD
rs753687272	p.Ser1139Pro	missense variant	-	NC_000013.11:g.32760617T>C	ExAC,gnomAD
rs200178558	p.Lys1143Arg	missense variant	-	NC_000013.11:g.32760630A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1216624268	p.Gln1144Lys	missense variant	-	NC_000013.11:g.32760632C>A	gnomAD
rs777740232	p.Gln1144His	missense variant	-	NC_000013.11:g.32760634A>C	ExAC,TOPMed,gnomAD
rs781195833	p.Gln1146His	missense variant	-	NC_000013.11:g.32760640G>C	ExAC,TOPMed,gnomAD
rs746074870	p.Thr1147Pro	missense variant	-	NC_000013.11:g.32760641A>C	ExAC,gnomAD
rs558856899	p.Lys1148Arg	missense variant	-	NC_000013.11:g.32760645A>G	ExAC,gnomAD
COSM5089811	p.Arg1151Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.32760653C>T	NCI-TCGA Cosmic
rs1156563527	p.Arg1151Gln	missense variant	-	NC_000013.11:g.32760654G>A	TOPMed,gnomAD
rs1156563527	p.Arg1151Gln	missense variant	-	NC_000013.11:g.32760654G>A	NCI-TCGA Cosmic
rs1406833684	p.Met1152Lys	missense variant	-	NC_000013.11:g.32760657T>A	gnomAD
rs1400861161	p.Glu1153Gly	missense variant	-	NC_000013.11:g.32760660A>G	gnomAD
rs1268218734	p.Thr1154Ala	missense variant	-	NC_000013.11:g.32760662A>G	gnomAD
rs1435121344	p.Ser1160Asn	missense variant	-	NC_000013.11:g.32760681G>A	gnomAD
rs1279283591	p.Ser1162Thr	missense variant	-	NC_000013.11:g.32760686T>A	TOPMed
rs1325871753	p.Ser1165Gly	missense variant	-	NC_000013.11:g.32760695A>G	gnomAD
rs768951693	p.Arg1169Ile	missense variant	-	NC_000013.11:g.32760708G>T	ExAC,gnomAD
rs774891315	p.Gly1172Glu	missense variant	-	NC_000013.11:g.32760717G>A	ExAC,gnomAD
rs1349512563	p.Arg1173Lys	missense variant	-	NC_000013.11:g.32760720G>A	TOPMed
rs373374290	p.Ser1177Phe	missense variant	-	NC_000013.11:g.32764500C>T	ESP,TOPMed
NCI-TCGA novel	p.Met1179Val	missense variant	-	NC_000013.11:g.32764505A>G	NCI-TCGA
rs772804477	p.Ser1182Gly	missense variant	-	NC_000013.11:g.32764514A>G	ExAC
NCI-TCGA novel	p.Ser1182Cys	missense variant	-	NC_000013.11:g.32764514A>T	NCI-TCGA
NCI-TCGA novel	p.Glu1185Lys	missense variant	-	NC_000013.11:g.32764523G>A	NCI-TCGA
rs1474651926	p.Asp1186Glu	missense variant	-	NC_000013.11:g.32764528T>A	gnomAD
rs1296869217	p.Asp1186Gly	missense variant	-	NC_000013.11:g.32764527A>G	TOPMed
COSM1317901	p.Thr1188Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32764532A>G	NCI-TCGA Cosmic
rs1419312344	p.Met1189Thr	missense variant	-	NC_000013.11:g.32764536T>C	gnomAD
rs770612427	p.Ser1190Cys	missense variant	-	NC_000013.11:g.32764539C>G	ExAC,TOPMed,gnomAD
rs1166707044	p.Pro1192Ser	missense variant	-	NC_000013.11:g.32764544C>T	TOPMed,gnomAD
rs375525966	p.Pro1194Leu	missense variant	-	NC_000013.11:g.32764551C>T	ESP,ExAC,TOPMed,gnomAD
rs776388530	p.Pro1194Ser	missense variant	-	NC_000013.11:g.32764550C>T	ExAC,TOPMed,gnomAD
rs776388530	p.Pro1194Ala	missense variant	-	NC_000013.11:g.32764550C>G	ExAC,TOPMed,gnomAD
rs1391240906	p.Gly1195Glu	missense variant	-	NC_000013.11:g.32764554G>A	gnomAD
rs775161495	p.Gly1195Arg	missense variant	-	NC_000013.11:g.32764553G>A	ExAC,gnomAD
rs762880354	p.Lys1196Glu	missense variant	-	NC_000013.11:g.32764556A>G	ExAC,gnomAD
rs751547227	p.Ser1198Asn	missense variant	-	NC_000013.11:g.32764563G>A	ExAC,TOPMed,gnomAD
rs755801132	p.Ser1198ValPheSerTerUnkUnk	frameshift	-	NC_000013.11:g.32764556A>-	NCI-TCGA
rs1424382780	p.Ser1198Gly	missense variant	-	NC_000013.11:g.32764562A>G	TOPMed
NCI-TCGA novel	p.Ser1198ValPheSerTerUnkUnk	frameshift	-	NC_000013.11:g.32764552G>-	NCI-TCGA
rs756157790	p.Asp1199Glu	missense variant	-	NC_000013.11:g.32764567C>A	ExAC,TOPMed,gnomAD
rs372444745	p.Lys1200Arg	missense variant	-	NC_000013.11:g.32764569A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys1200Gln	missense variant	-	NC_000013.11:g.32764568A>C	NCI-TCGA
rs755171245	p.Asp1203Asn	missense variant	-	NC_000013.11:g.32764577G>A	ExAC,TOPMed,gnomAD
rs779274141	p.Ser1204Phe	missense variant	-	NC_000013.11:g.32764581C>T	ExAC,gnomAD
rs748496007	p.Val1207Ala	missense variant	-	NC_000013.11:g.32764590T>C	ExAC,gnomAD
rs199994437	p.Ser1209Thr	missense variant	-	NC_000013.11:g.32770121T>A	ESP,ExAC,TOPMed,gnomAD
rs761675479	p.Ser1209Phe	missense variant	-	NC_000013.11:g.32770122C>T	ExAC,gnomAD
rs201027085	p.Leu1211Met	missense variant	-	NC_000013.11:g.32770127T>A	ExAC,TOPMed,gnomAD
rs776727729	p.Leu1211Phe	missense variant	-	NC_000013.11:g.32770129G>C	ExAC,TOPMed,gnomAD
rs759508637	p.Glu1212Ala	missense variant	-	NC_000013.11:g.32770131A>C	ExAC,gnomAD
rs371312440	p.Lys1213Asn	missense variant	-	NC_000013.11:g.32770135G>C	ESP,ExAC,TOPMed,gnomAD
rs371312440	p.Lys1213Asn	missense variant	-	NC_000013.11:g.32770135G>T	ESP,ExAC,TOPMed,gnomAD
rs763321690	p.Pro1214Thr	missense variant	-	NC_000013.11:g.32770136C>A	ExAC,TOPMed,gnomAD
rs375703958	p.Arg1215Lys	missense variant	-	NC_000013.11:g.32770140G>A	ESP,TOPMed
COSM946937	p.Gly1216Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32770142G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg1217Lys	missense variant	-	NC_000013.11:g.32770146G>A	NCI-TCGA
rs751975727	p.Lys1218Arg	missense variant	-	NC_000013.11:g.32770149A>G	ExAC,gnomAD
rs764493540	p.Lys1218Glu	missense variant	-	NC_000013.11:g.32770148A>G	ExAC,gnomAD
COSM1366530	p.Thr1220ArgPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.32770148A>-	NCI-TCGA Cosmic
rs199723708	p.Thr1220Lys	missense variant	-	NC_000013.11:g.32770155C>A	ESP,ExAC,TOPMed,gnomAD
rs199723708	p.Thr1220Met	missense variant	-	NC_000013.11:g.32770155C>T	ESP,ExAC,TOPMed,gnomAD
rs199723708	p.Thr1220Arg	missense variant	-	NC_000013.11:g.32770155C>G	ESP,ExAC,TOPMed,gnomAD
rs374693255	p.Val1222Ile	missense variant	-	NC_000013.11:g.32770160G>A	ESP,ExAC,TOPMed,gnomAD
rs1390575100	p.Val1222Ala	missense variant	-	NC_000013.11:g.32770161T>C	gnomAD
NCI-TCGA novel	p.Glu1224Gly	missense variant	-	NC_000013.11:g.32770167A>G	NCI-TCGA
rs537308538	p.Glu1227Gly	missense variant	-	NC_000013.11:g.32770176A>G	1000Genomes,ExAC,gnomAD
rs772987297	p.Leu1229Ser	missense variant	-	NC_000013.11:g.32770182T>C	ExAC,gnomAD
rs760729065	p.Gly1230Arg	missense variant	-	NC_000013.11:g.32770184G>C	ExAC,TOPMed,gnomAD
rs117969190	p.Met1231Arg	missense variant	-	NC_000013.11:g.32770188T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs775651934	p.Asp1233Asn	missense variant	-	NC_000013.11:g.32770193G>A	ExAC,gnomAD
rs1251556293	p.Lys1236Glu	missense variant	-	NC_000013.11:g.32770202A>G	gnomAD
rs376232625	p.Val1238Leu	missense variant	-	NC_000013.11:g.32770208G>T	ESP,ExAC,gnomAD
rs1417318879	p.Glu1240Gly	missense variant	-	NC_000013.11:g.32770215A>G	TOPMed,gnomAD
COSM946938	p.Ser1246Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32770234T>A	NCI-TCGA Cosmic
rs1167067651	p.Ser1246Arg	missense variant	-	NC_000013.11:g.32770234T>G	gnomAD
rs762237475	p.Gln1247Lys	missense variant	-	NC_000013.11:g.32770235C>A	ExAC,gnomAD
COSM246520	p.Arg1248Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.32770238C>T	NCI-TCGA Cosmic
rs202027997	p.Arg1248Gln	missense variant	-	NC_000013.11:g.32770239G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs750883382	p.Ser1249Asn	missense variant	-	NC_000013.11:g.32770242G>A	ExAC,gnomAD
rs368330829	p.Arg1250Gln	missense variant	-	NC_000013.11:g.32770245G>A	ESP,ExAC,TOPMed,gnomAD
rs534821517	p.Arg1250Trp	missense variant	-	NC_000013.11:g.32770244C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg1252Ile	missense variant	-	NC_000013.11:g.32770251G>T	NCI-TCGA
rs371825057	p.Gly1253Asp	missense variant	-	NC_000013.11:g.32770254G>A	ESP
rs375215091	p.Thr1255Met	missense variant	-	NC_000013.11:g.32770260C>T	ESP,ExAC,TOPMed,gnomAD
rs1226632444	p.Glu1258Gln	missense variant	-	NC_000013.11:g.32770268G>C	gnomAD
rs1306232078	p.Glu1258Val	missense variant	-	NC_000013.11:g.32770269A>T	gnomAD
rs777677873	p.Gln1263Arg	missense variant	-	NC_000013.11:g.32770284A>G	ExAC,gnomAD
rs1238903449	p.Pro1265Arg	missense variant	-	NC_000013.11:g.32770290C>G	TOPMed
rs746860880	p.Pro1265Ala	missense variant	-	NC_000013.11:g.32770289C>G	ExAC,gnomAD
rs1220846731	p.Glu1266Gly	missense variant	-	NC_000013.11:g.32770293A>G	TOPMed
rs770904223	p.Glu1267Asp	missense variant	-	NC_000013.11:g.32770297A>C	ExAC,gnomAD
rs1257038994	p.Lys1268Asn	missense variant	-	NC_000013.11:g.32770300G>C	gnomAD
NCI-TCGA novel	p.Lys1268ArgPheSerTerUnk	frameshift	-	NC_000013.11:g.32770296A>-	NCI-TCGA
rs1183622924	p.Arg1269Ser	missense variant	-	NC_000013.11:g.32770303G>T	TOPMed,gnomAD
rs201437175	p.Leu1270Pro	missense variant	-	NC_000013.11:g.32770305T>C	ExAC,TOPMed,gnomAD
rs749400858	p.Ile1274Thr	missense variant	-	NC_000013.11:g.32770317T>C	ExAC,gnomAD
rs201083990	p.Ile1274Met	missense variant	-	NC_000013.11:g.32770318A>G	ESP,ExAC,TOPMed,gnomAD
rs1375650856	p.Glu1278Asp	missense variant	-	NC_000013.11:g.32770330A>C	gnomAD
NCI-TCGA novel	p.Glu1278Ter	stop gained	-	NC_000013.11:g.32770328G>T	NCI-TCGA
rs1482408513	p.Asn1282Lys	missense variant	-	NC_000013.11:g.32770342T>A	gnomAD
rs1308227017	p.Pro1284Leu	missense variant	-	NC_000013.11:g.32770347C>T	TOPMed
rs1428394234	p.Lys1286Arg	missense variant	-	NC_000013.11:g.32770353A>G	gnomAD
rs773633929	p.Lys1286Glu	missense variant	-	NC_000013.11:g.32770352A>G	ExAC,gnomAD
COSM1366531	p.Lys1287ArgPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.32770351A>-	NCI-TCGA Cosmic
rs761049443	p.Lys1287Arg	missense variant	-	NC_000013.11:g.32770356A>G	ExAC,TOPMed
COSM946939	p.Gly1288Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32770359G>T	NCI-TCGA Cosmic
rs1378602430	p.Gly1288Ala	missense variant	-	NC_000013.11:g.32770359G>C	TOPMed
rs1382217170	p.Gly1288Ser	missense variant	-	NC_000013.11:g.32770358G>A	gnomAD
rs1167318210	p.Arg1292Ter	stop gained	-	NC_000013.11:g.32770370C>T	TOPMed,gnomAD
rs1344806616	p.Arg1292Gln	missense variant	-	NC_000013.11:g.32770371G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Arg1292Leu	missense variant	-	NC_000013.11:g.32770371G>T	NCI-TCGA
rs1279908325	p.Pro1293Leu	missense variant	-	NC_000013.11:g.32770374C>T	gnomAD
rs374924837	p.Pro1293Thr	missense variant	-	NC_000013.11:g.32770373C>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1294Arg	missense variant	-	NC_000013.11:g.32770377C>G	NCI-TCGA
COSM3468438	p.Leu1297Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32770385C>T	NCI-TCGA Cosmic
COSM1322905	p.Leu1297Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32770385C>G	NCI-TCGA Cosmic
rs761064408	p.Leu1297Ile	missense variant	-	NC_000013.11:g.32770385C>A	ExAC,gnomAD
rs1240371272	p.Gly1299Arg	missense variant	-	NC_000013.11:g.32770391G>A	gnomAD
rs553065859	p.Gly1299Glu	missense variant	-	NC_000013.11:g.32770392G>A	1000Genomes
rs752330884	p.Gly1300Ser	missense variant	-	NC_000013.11:g.32770394G>A	ExAC,gnomAD
rs777362873	p.Pro1302Ser	missense variant	-	NC_000013.11:g.32770400C>T	ExAC,gnomAD
rs746851429	p.Lys1303Glu	missense variant	-	NC_000013.11:g.32770403A>G	ExAC,gnomAD
rs757093013	p.Lys1303Arg	missense variant	-	NC_000013.11:g.32770404A>G	ExAC,TOPMed,gnomAD
rs781167583	p.Glu1304Ala	missense variant	-	NC_000013.11:g.32770407A>C	ExAC,gnomAD
rs1156483306	p.Met1308Thr	missense variant	-	NC_000013.11:g.32770419T>C	gnomAD
COSM946940	p.Ser1311Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32770428C>A	NCI-TCGA Cosmic
rs990938133	p.Gly1314Arg	missense variant	-	NC_000013.11:g.32770436G>A	TOPMed,gnomAD
rs990938133	p.Gly1314Arg	missense variant	-	NC_000013.11:g.32770436G>C	TOPMed,gnomAD
rs1367914641	p.Gly1314Glu	missense variant	-	NC_000013.11:g.32770437G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Gly1314GluPheSerTerUnkUnk	frameshift	-	NC_000013.11:g.32770430A>-	NCI-TCGA
rs1344020075	p.Ser1315Arg	missense variant	-	NC_000013.11:g.32770441C>A	TOPMed,gnomAD
rs1439200172	p.Ser1315Asn	missense variant	-	NC_000013.11:g.32770440G>A	gnomAD
rs1190821223	p.Ser1315Arg	missense variant	-	NC_000013.11:g.32770439A>C	TOPMed
NCI-TCGA novel	p.Ser1315Arg	missense variant	-	NC_000013.11:g.32770441C>G	NCI-TCGA
NCI-TCGA novel	p.Lys1317Gln	missense variant	-	NC_000013.11:g.32770445A>C	NCI-TCGA
rs747131399	p.Lys1318AsnPheSerTerUnkUnk	frameshift	-	NC_000013.11:g.32770442A>-	NCI-TCGA,NCI-TCGA Cosmic
rs1024111945	p.Ser1319Pro	missense variant	-	NC_000013.11:g.32770451T>C	TOPMed
rs772372189	p.Pro1321Leu	missense variant	-	NC_000013.11:g.32770458C>T	ExAC,gnomAD
rs1490478267	p.Pro1322Thr	missense variant	-	NC_000013.11:g.32770460C>A	TOPMed
rs369239313	p.Pro1322Leu	missense variant	-	NC_000013.11:g.32770461C>T	ESP,TOPMed,gnomAD
COSM696706	p.Ala1323Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32770463G>T	NCI-TCGA Cosmic
rs1316449459	p.Ala1323Val	missense variant	-	NC_000013.11:g.32770464C>T	gnomAD
rs761081588	p.Pro1324Leu	missense variant	-	NC_000013.11:g.32770467C>T	ExAC,gnomAD
rs773402726	p.Pro1324Ala	missense variant	-	NC_000013.11:g.32770466C>G	ExAC
NCI-TCGA novel	p.Glu1325Ter	stop gained	-	NC_000013.11:g.32770469G>T	NCI-TCGA
rs1269961946	p.Glu1331Gly	missense variant	-	NC_000013.11:g.32770488A>G	TOPMed,gnomAD
rs766697845	p.Gln1333Arg	missense variant	-	NC_000013.11:g.32770494A>G	ExAC,TOPMed,gnomAD
rs760089686	p.Asn1336Ser	missense variant	-	NC_000013.11:g.32770503A>G	ExAC,gnomAD
rs201933867	p.Thr1337Met	missense variant	-	NC_000013.11:g.32770506C>T	ESP,ExAC,TOPMed,gnomAD
rs201933867	p.Thr1337Arg	missense variant	-	NC_000013.11:g.32770506C>G	ESP,ExAC,TOPMed,gnomAD
rs1175667573	p.Glu1338Asp	missense variant	-	NC_000013.11:g.32770510A>C	TOPMed
rs763828445	p.Gln1339Pro	missense variant	-	NC_000013.11:g.32770512A>C	ExAC
rs1406762391	p.Lys1342Gln	missense variant	-	NC_000013.11:g.32770520A>C	gnomAD
rs1160689981	p.Ser1343Arg	missense variant	-	NC_000013.11:g.32770525C>G	gnomAD
rs1400806564	p.Ser1343Asn	missense variant	-	NC_000013.11:g.32770524G>A	gnomAD
rs751219011	p.Gln1345Ter	stop gained	-	NC_000013.11:g.32770529C>T	ExAC,gnomAD
rs1460283748	p.His1346Arg	missense variant	-	NC_000013.11:g.32770533A>G	gnomAD
rs1200187212	p.Val1348Ala	missense variant	-	NC_000013.11:g.32770539T>C	TOPMed
rs1395761266	p.Arg1350Lys	missense variant	-	NC_000013.11:g.32770545G>A	gnomAD
rs1480726563	p.Gln1354His	missense variant	-	NC_000013.11:g.32770558G>T	TOPMed
COSM4047126	p.Arg1355Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32770560G>T	NCI-TCGA Cosmic
rs1232728650	p.Glu1357Gln	missense variant	-	NC_000013.11:g.32770658G>C	gnomAD
rs1358332192	p.Ser1358Phe	missense variant	-	NC_000013.11:g.32770662C>T	TOPMed,gnomAD
rs185345116	p.Glu1360Val	missense variant	-	NC_000013.11:g.32770668A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1482077819	p.Ser1361Cys	missense variant	-	NC_000013.11:g.32770671C>G	TOPMed
NCI-TCGA novel	p.Ser1361Tyr	missense variant	-	NC_000013.11:g.32770671C>A	NCI-TCGA
rs1271950551	p.Ser1362Arg	missense variant	-	NC_000013.11:g.32770673A>C	TOPMed,gnomAD
rs756069537	p.Ser1362Asn	missense variant	-	NC_000013.11:g.32770674G>A	ExAC,gnomAD
rs753762563	p.Ile1364Asn	missense variant	-	NC_000013.11:g.32770680T>A	ExAC,TOPMed,gnomAD
rs759978437	p.Ile1364Val	missense variant	-	NC_000013.11:g.32770679A>G	ExAC,gnomAD
rs753762563	p.Ile1364Thr	missense variant	-	NC_000013.11:g.32770680T>C	ExAC,TOPMed,gnomAD
rs1485084659	p.Glu1365Lys	missense variant	-	NC_000013.11:g.32770682G>A	gnomAD
rs1369578116	p.Thr1367Ile	missense variant	-	NC_000013.11:g.32770689C>T	gnomAD
COSM6074223	p.Gln1368Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32770692A>T	NCI-TCGA Cosmic
rs747193314	p.Ser1369Cys	missense variant	-	NC_000013.11:g.32770695C>G	ExAC,TOPMed,gnomAD
rs1419337303	p.Thr1370Ala	missense variant	-	NC_000013.11:g.32770697A>G	gnomAD
rs1170774368	p.Gly1374Arg	missense variant	-	NC_000013.11:g.32770709G>A	TOPMed,gnomAD
rs921699617	p.Arg1375Ter	stop gained	-	NC_000013.11:g.32770712C>T	TOPMed,gnomAD
rs746251315	p.Arg1375Gln	missense variant	-	NC_000013.11:g.32770713G>A	ExAC,gnomAD
rs746251315	p.Arg1375Pro	missense variant	-	NC_000013.11:g.32770713G>C	ExAC,gnomAD
rs1334842482	p.Gly1376Glu	missense variant	-	NC_000013.11:g.32770716G>A	gnomAD
rs763437464	p.Pro1378Thr	missense variant	-	NC_000013.11:g.32770721C>A	ExAC,gnomAD
rs763437464	p.Pro1378Ala	missense variant	-	NC_000013.11:g.32770721C>G	ExAC,gnomAD
rs768156047	p.Thr1381Ala	missense variant	-	NC_000013.11:g.32770730A>G	ExAC,gnomAD
rs930374554	p.Thr1381Arg	missense variant	-	NC_000013.11:g.32770731C>G	TOPMed,gnomAD
rs930374554	p.Thr1381Met	missense variant	-	NC_000013.11:g.32770731C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Thr1381ArgPheSerTerUnkUnk	frameshift	-	NC_000013.11:g.32770726A>-	NCI-TCGA
rs371234286	p.Pro1382Ser	missense variant	-	NC_000013.11:g.32770733C>T	ESP,gnomAD
rs761488170	p.Pro1384Ser	missense variant	-	NC_000013.11:g.32770739C>T	ExAC,TOPMed,gnomAD
rs767302793	p.Pro1384Leu	missense variant	-	NC_000013.11:g.32770740C>T	ExAC,gnomAD
rs1257732692	p.Ser1385Thr	missense variant	-	NC_000013.11:g.32770742T>A	gnomAD
rs1444778390	p.Ser1385Ter	stop gained	-	NC_000013.11:g.32770743C>A	gnomAD
rs1191720947	p.Gln1386Lys	missense variant	-	NC_000013.11:g.32770745C>A	gnomAD
rs1242027993	p.Pro1387Thr	missense variant	-	NC_000013.11:g.32770748C>A	gnomAD
rs1270125766	p.Pro1387Gln	missense variant	-	NC_000013.11:g.32770749C>A	gnomAD
COSM946942	p.Lys1389Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32770754A>C	NCI-TCGA Cosmic
rs759495724	p.Asn1390MetPheSerTerUnk	frameshift	-	NC_000013.11:g.32770750A>-	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn1390CysPheSerTerUnkUnk	frameshift	-	NC_000013.11:g.32770750_32770751AA>-	NCI-TCGA
rs561693185	p.Val1391Ile	missense variant	-	NC_000013.11:g.32770760G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs561693185	p.Val1391Leu	missense variant	-	NC_000013.11:g.32770760G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs747642036	p.Arg1392His	missense variant	-	NC_000013.11:g.32773191G>A	ExAC,TOPMed,gnomAD
rs747642036	p.Arg1392Leu	missense variant	-	NC_000013.11:g.32773191G>T	ExAC,TOPMed,gnomAD
rs773864974	p.Arg1392Cys	missense variant	-	NC_000013.11:g.32773190C>T	ExAC,TOPMed,gnomAD
COSM4047127	p.Val1393Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32773193G>A	NCI-TCGA Cosmic
rs971487037	p.Arg1395His	missense variant	-	NC_000013.11:g.32773200G>A	TOPMed,gnomAD
rs367640322	p.Arg1395Cys	missense variant	-	NC_000013.11:g.32773199C>T	ESP,ExAC,TOPMed,gnomAD
rs367640322	p.Arg1395Gly	missense variant	-	NC_000013.11:g.32773199C>G	ESP,ExAC,TOPMed,gnomAD
rs1302989255	p.Lys1397Arg	missense variant	-	NC_000013.11:g.32773206A>G	gnomAD
rs1174860698	p.Gln1398Glu	missense variant	-	NC_000013.11:g.32773208C>G	TOPMed
rs760458324	p.Gln1398Arg	missense variant	-	NC_000013.11:g.32773209A>G	ExAC,gnomAD
rs776298861	p.Ala1399Val	missense variant	-	NC_000013.11:g.32773212C>T	ExAC,TOPMed,gnomAD
rs201371030	p.Ala1399Thr	missense variant	-	NC_000013.11:g.32773211G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs776298861	p.Ala1399Gly	missense variant	-	NC_000013.11:g.32773212C>G	ExAC,TOPMed,gnomAD
rs1211192809	p.Ala1400Val	missense variant	-	NC_000013.11:g.32773215C>T	gnomAD
rs1330590546	p.Ala1400Ser	missense variant	-	NC_000013.11:g.32773214G>T	gnomAD
rs187902200	p.Thr1401Ala	missense variant	-	NC_000013.11:g.32773217A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs187902200	p.Thr1401Pro	missense variant	-	NC_000013.11:g.32773217A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1210756360	p.Thr1401Asn	missense variant	-	NC_000013.11:g.32773218C>A	gnomAD
rs1426892583	p.Lys1402Glu	missense variant	-	NC_000013.11:g.32773220A>G	TOPMed
rs757297869	p.Lys1402Thr	missense variant	-	NC_000013.11:g.32773221A>C	ExAC,TOPMed,gnomAD
rs757297869	p.Lys1402Arg	missense variant	-	NC_000013.11:g.32773221A>G	ExAC,TOPMed,gnomAD
COSM1287063	p.Asn1404Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32773227A>G	NCI-TCGA Cosmic
rs750631273	p.Asn1404Asp	missense variant	-	NC_000013.11:g.32773226A>G	ExAC,gnomAD
rs927289633	p.Asp1405Gly	missense variant	-	NC_000013.11:g.32773230A>G	TOPMed
rs756333625	p.Ser1406Thr	missense variant	-	NC_000013.11:g.32773232T>A	ExAC,gnomAD
rs749635896	p.Ser1407Asn	missense variant	-	NC_000013.11:g.32773236G>A	ExAC,TOPMed,gnomAD
rs764626449	p.Ser1407Arg	missense variant	-	NC_000013.11:g.32773235A>C	ExAC,gnomAD
rs1295006162	p.Glu1408Lys	missense variant	-	NC_000013.11:g.32773238G>A	gnomAD
rs755417524	p.Val1410Gly	missense variant	-	NC_000013.11:g.32773245T>G	ExAC,gnomAD
rs755417524	p.Val1410Ala	missense variant	-	NC_000013.11:g.32773245T>C	ExAC,gnomAD
rs370523086	p.Val1412Ala	missense variant	-	NC_000013.11:g.32773251T>C	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Gly1415Asp	missense variant	-	NC_000013.11:g.32773260G>A	NCI-TCGA
rs1351838030	p.Ser1416Ile	missense variant	-	NC_000013.11:g.32773263G>T	gnomAD
rs1351838030	p.Ser1416Thr	missense variant	-	NC_000013.11:g.32773263G>C	gnomAD
rs1198639563	p.Ser1417Pro	missense variant	-	NC_000013.11:g.32773265T>C	TOPMed
rs1291998716	p.Pro1418Ser	missense variant	-	NC_000013.11:g.32773268C>T	gnomAD
rs770523903	p.Asp1420Asn	missense variant	-	NC_000013.11:g.32773274G>A	ExAC,gnomAD
rs760182183	p.Asp1421Gly	missense variant	-	NC_000013.11:g.32773278A>G	TOPMed
rs1435234749	p.Ile1422Thr	missense variant	-	NC_000013.11:g.32773281T>C	TOPMed
rs776440255	p.Ile1422Val	missense variant	-	NC_000013.11:g.32773280A>G	ExAC,gnomAD
rs1337838744	p.Pro1423Ser	missense variant	-	NC_000013.11:g.32773283C>T	gnomAD
rs1381370787	p.Pro1423Leu	missense variant	-	NC_000013.11:g.32773284C>T	TOPMed
NCI-TCGA novel	p.Thr1427Ala	missense variant	-	NC_000013.11:g.32773295A>G	NCI-TCGA
rs775286541	p.Glu1431Asp	missense variant	-	NC_000013.11:g.32773309A>C	ExAC,gnomAD
COSM946943	p.Ser1433Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32773314C>A	NCI-TCGA Cosmic
rs762936755	p.Thr1434Ala	missense variant	-	NC_000013.11:g.32773316A>G	ExAC,TOPMed,gnomAD
rs538257707	p.Val1435Ile	missense variant	-	NC_000013.11:g.32773319G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Val1435Leu	missense variant	-	NC_000013.11:g.32773319G>T	NCI-TCGA
rs1467113364	p.Val1437Ile	missense variant	-	NC_000013.11:g.32775017G>A	TOPMed,gnomAD
rs748672554	p.Arg1438Trp	missense variant	-	NC_000013.11:g.32775020C>T	ExAC,TOPMed,gnomAD
rs762836394	p.Arg1438Pro	missense variant	-	NC_000013.11:g.32775021G>C	ExAC,TOPMed,gnomAD
rs762836394	p.Arg1438Gln	missense variant	-	NC_000013.11:g.32775021G>A	ExAC,TOPMed,gnomAD
rs776207788	p.Arg1439Pro	missense variant	-	NC_000013.11:g.32775024G>C	ExAC,TOPMed,gnomAD
rs200436799	p.Arg1439Trp	missense variant	-	NC_000013.11:g.32775023C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs776207788	p.Arg1439Leu	missense variant	-	NC_000013.11:g.32775024G>T	ExAC,TOPMed,gnomAD
rs776207788	p.Arg1439Gln	missense variant	-	NC_000013.11:g.32775024G>A	ExAC,TOPMed,gnomAD
COSM946944	p.Arg1440Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32775027G>A	NCI-TCGA Cosmic
rs371713456	p.Arg1440Ter	stop gained	-	NC_000013.11:g.32775026C>T	ESP,ExAC,TOPMed,gnomAD
rs1369771501	p.Glu1445Lys	missense variant	-	NC_000013.11:g.32775041G>A	gnomAD
rs765458027	p.Arg1446Trp	missense variant	-	NC_000013.11:g.32775044C>T	ExAC,TOPMed,gnomAD
rs1212268137	p.Arg1446Gln	missense variant	-	NC_000013.11:g.32775045G>A	gnomAD
rs1207465727	p.Arg1447Gln	missense variant	-	NC_000013.11:g.32775048G>A	TOPMed
rs199518025	p.Arg1447Ter	stop gained	-	NC_000013.11:g.32775047C>T	1000Genomes,ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007097	Carcinoma	group	BEFREE
C0008925	Cleft Palate	disease	BEFREE
C0018801	Heart failure	disease	BEFREE
C0018802	Congestive heart failure	disease	BEFREE
C0149782	Squamous cell carcinoma of lung	disease	GWASCAT
C0200665	Platelet mean volume determination (procedure)	phenotype	GWASCAT
C0270972	Cornelia De Lange Syndrome	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE;GWASCAT
C0684249	Carcinoma of lung	disease	GWASCAT
C1527249	Colorectal Cancer	disease	BEFREE
C1837218	Cleft palate, isolated	disease	BEFREE
C1956346	Coronary Artery Disease	disease	GWASCAT
C2981150	Uranostaphyloschisis	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003677	DNA binding	IDA
GO:0005515	protein binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0002088	lens development in camera-type eye	IEA
GO:0006281	DNA repair	IBA
GO:0007064	mitotic sister chromatid cohesion	IMP
GO:0007064	mitotic sister chromatid cohesion	IBA
GO:0008283	cell population proliferation	TAS
GO:0008285	negative regulation of cell population proliferation	IDA
GO:0042127	regulation of cell population proliferation	IDA
GO:0051301	cell division	IEA
GO:0097402	neuroblast migration	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000775	chromosome, centromeric region	TAS
GO:0000785	chromatin	IDA
GO:0000785	chromatin	IBA
GO:0005634	nucleus	ISS
GO:0005634	nucleus	IBA
GO:0005654	nucleoplasm	IDA
GO:0005654	nucleoplasm	TAS
GO:0005694	chromosome	TAS
GO:0005829	cytosol	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1640170	Cell Cycle	TAS
R-HSA-2467813	Separation of Sister Chromatids	TAS
R-HSA-2468052	Establishment of Sister Chromatid Cohesion	TAS
R-HSA-2470946	Cohesin Loading onto Chromatin	TAS
R-HSA-2500257	Resolution of Sister Chromatid Cohesion	TAS
R-HSA-2555396	Mitotic Metaphase and Anaphase	TAS
R-HSA-68877	Mitotic Prometaphase	TAS
R-HSA-68882	Mitotic Anaphase	TAS
R-HSA-68884	Mitotic Telophase/Cytokinesis	TAS
R-HSA-68886	M Phase	TAS
R-HSA-69242	S Phase	TAS
R-HSA-69278	Cell Cycle, Mitotic	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
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 PDS5B mRNA	19150397; 26238291;
C496492	abrine	abrine results in decreased expression of PDS5B mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in decreased expression of PDS5B mRNA	21420995
D000082	Acetaminophen	Acetaminophen affects the expression of PDS5B mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of PDS5B gene	27153756
D000728	Androgens	Androgens results in increased expression of PDS5B mRNA	10963680
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of PDS5B mRNA	24449571
D001280	Atrazine	Atrazine results in increased expression of PDS5B mRNA	22982499
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of PDS5B mRNA	20064835; 20106945;
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of PDS5B mRNA	17879257
C006780	bisphenol A	bisphenol A affects the expression of PDS5B mRNA	21786754
C006780	bisphenol A	bisphenol A results in increased methylation of PDS5B intron	30906313
C006780	bisphenol A	[bisphenol A co-treated with tributyltin] results in increased expression of PDS5B mRNA	31129395
C006780	bisphenol A	bisphenol A results in decreased expression of PDS5B mRNA	30816183
C006780	bisphenol A	bisphenol A results in increased expression of PDS5B mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased methylation of PDS5B gene	28505145
C018475	butyraldehyde	butyraldehyde results in decreased expression of PDS5B mRNA	26079696
D004390	Chlorpyrifos	Chlorpyrifos results in decreased expression of PDS5B mRNA	20350560
C074702	chromium hexavalent ion	chromium hexavalent ion results in decreased expression of PDS5B mRNA	27793765
D002945	Cisplatin	Cisplatin results in decreased phosphorylation of PDS5B protein	22006019
D003300	Copper	Copper results in increased expression of PDS5B mRNA	30556269
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of PDS5B mRNA	19549813
D016572	Cyclosporine	Cyclosporine results in decreased expression of PDS5B mRNA	20106945
D003703	Demecolcine	Demecolcine results in increased expression of PDS5B mRNA	23649840
D003907	Dexamethasone	Dexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of PDS5B mRNA]	27941970
C000944	dicrotophos	dicrotophos results in decreased expression of PDS5B mRNA	28302478
D013196	Dihydrotestosterone	Dihydrotestosterone results in increased expression of PDS5B mRNA	29581250
D004221	Disulfiram	Disulfiram results in decreased expression of PDS5B mRNA	20530235
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of PDS5B mRNA	22079256
D004958	Estradiol	[Estradiol co-treated with Tetrachlorodibenzodioxin] results in increased expression of PDS5B mRNA	19619570
D004958	Estradiol	Estradiol results in decreased expression of PDS5B mRNA	21185374
D004958	Estradiol	Estradiol results in increased expression of PDS5B mRNA	19619570
D005485	Flutamide	Flutamide results in decreased expression of PDS5B mRNA	24793618
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of PDS5B mRNA	25613284
C544151	jinfukang	jinfukang results in decreased expression of PDS5B mRNA	27392435
D008628	Mercury	Mercury results in decreased expression of PDS5B mRNA	16823088
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of PDS5B mRNA	28001369
D015741	Metribolone	Metribolone results in increased expression of PDS5B mRNA	17010196
C000622638	MLN7243	MLN7243 results in decreased sumoylation of PDS5B protein	31285264
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in decreased expression of PDS5B mRNA	25729387
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of PDS5B protein	26879310
D010936	Plant Extracts	Plant Extracts results in increased expression of PDS5B mRNA	23557933
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of PDS5B mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of PDS5B mRNA	22079256
D011794	Quercetin	Quercetin results in decreased expression of PDS5B mRNA	21632981
D012969	Sodium Fluoride	Sodium Fluoride results in decreased expression of PDS5B mRNA	27862939
D013749	Tetrachlorodibenzodioxin	[Estradiol co-treated with Tetrachlorodibenzodioxin] results in increased expression of PDS5B mRNA	19619570
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of PDS5B mRNA	19619570
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of PDS5B mRNA	25613284
D019284	Thapsigargin	Thapsigargin results in increased expression of PDS5B protein	24648495
D013893	Thiram	Thiram results in decreased expression of PDS5B mRNA	20530235
C009495	titanium dioxide	titanium dioxide results in decreased expression of PDS5B mRNA	29264374
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in decreased expression of PDS5B mRNA	25729387
C011559	tributyltin	[bisphenol A co-treated with tributyltin] results in increased expression of PDS5B mRNA	31129395
C012589	trichostatin A	trichostatin A affects the expression of PDS5B mRNA	28542535
C012589	trichostatin A	trichostatin A results in increased expression of PDS5B mRNA	24935251
D014414	Tungsten	Tungsten results in decreased expression of PDS5B mRNA	30912803
D014635	Valproic Acid	Valproic Acid results in decreased expression of PDS5B mRNA	23179753; 27188386;
D014635	Valproic Acid	Valproic Acid affects the splicing of PDS5B mRNA	29427782
D014750	Vincristine	Vincristine results in increased expression of PDS5B mRNA	23649840

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0007	Acetylation
KW-0025	Alternative splicing
KW-0131	Cell cycle
KW-0132	Cell division
KW-0498	Mitosis
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-1185	Reference proteome
KW-0677	Repeat

Interpro

InterPro ID	InterPro Term
IPR016024	ARM-type_fold
IPR039776	Pds5

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term

Gene: PDS5B

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

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction