CleftGeneDB-Search

Gene: OCA2

Basic information

Tag	Content
Uniprot ID	Q04671; Q15211; Q15212; Q96EN1; Q9UMI5;
Entrez ID	4948
Genbank protein ID	AAH12097.1; AAA36477.1; AAA36430.1; AAC13783.1; AAC13784.1;
Genbank nucleotide ID	NM_001300984.1; NM_000275.2;
Ensembl protein ID	ENSP00000261276; ENSP00000346659;
Ensembl nucleotide ID	ENSG00000104044
Gene name	P protein
Gene symbol	OCA2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Could be involved in the transport of tyrosine, the precursor to melanin synthesis, within the melanocyte. Regulates the pH of melanosome and the melanosome maturation. One of the components of the mammalian pigmentary system. Seems to regulate the post-translational processing of tyrosinase, which catalyzes the limiting reaction in melanin synthesis. May serve as a key control point at which ethnic skin color variation is determined. Major determinant of brown and/or blue eye color.
Sequence	MHLEGRDGRR YPGAPAVELL QTSVPSGLAE LVAGKRRLPR GAGGADPSHS CPRGAAGQSS 60 WAPAGQEFAS FLTKGRSHSS LPQMSSSRSK DSCFTENTPL LRNSLQEKGS RCIPVYHPEF 120 ITAEESWEDS SADWERRYLL SREVSGLSAS ASSEKGDLLD SPHIRLRLSK LRRCVQWLKV 180 MGLFAFVVLC SILFSLYPDQ GKLWQLLALS PLENYSVNLS SHVDSTLLQV DLAGALVASG 240 PSRPGREEHI VVELTQADAL GSRWRRPQQV THNWTVYLNP RRSEHSVMSR TFEVLTRETV 300 SISIRASLQQ TQAVPLLMAH QYLRGSVETQ VTIATAILAG VYALIIFEIV HRTLAAMLGS 360 LAALAALAVI GDRPSLTHVV EWIDFETLAL LFGMMILVAI FSETGFFDYC AVKAYRLSRG 420 RVWAMIIMLC LIAAVLSAFL DNVTTMLLFT PVTIRLCEVL NLDPRQVLIA EVIFTNIGGA 480 ATAIGDPPNV IIVSNQELRK MGLDFAGFTA HMFIGICLVL LVCFPLLRLL YWNRKLYNKE 540 PSEIVELKHE IHVWRLTAQR ISPASREETA VRRLLLGKVL ALEHLLARRL HTFHRQISQE 600 DKNWETNIQE LQKKHRISDG ILLAKCLTVL GFVIFMFFLN SFVPGIHLDL GWIAILGAIW 660 LLILADIHDF EIILHRVEWA TLLFFAALFV LMEALAHLHL IEYVGEQTAL LIKMVPEEQR 720 LIAAIVLVVW VSALASSLID NIPFTATMIP VLLNLSHDPE VGLPAPPLMY ALAFGACLGG 780 NGTLIGASAN VVCAGIAEQH GYGFSFMEFF RLGFPMMVVS CTVGMCYLLV AHVVVGWN 838

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	OCA2		A0A452G2D0		Capra hircus	Prediction	More>>
1:1 ortholog	OCA2	4948	Q04671		Homo sapiens	Prediction	More>>
1:1 ortholog	Oca2	18431	Q62052	CPO	Mus musculus	Publication	More>>
1:1 ortholog	OCA2	453261	A0A2I3TCV4		Pan troglodytes	Prediction	More>>
1:1 ortholog			A0A287A8S4		Sus scrofa	Prediction	More>>
1:1 ortholog	Oca2	100365773	Q4LEV3		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs781021505	p.His2Tyr	missense variant	-	NC_000015.10:g.28081871G>A	ExAC,gnomAD
rs781021505	p.His2Asn	missense variant	-	NC_000015.10:g.28081871G>T	ExAC,gnomAD
rs1429007465	p.Gly5Cys	missense variant	-	NC_000015.10:g.28081862C>A	gnomAD
rs757294992	p.Arg6Thr	missense variant	-	NC_000015.10:g.28081858C>G	ExAC,TOPMed,gnomAD
rs574772268	p.Gly8Ser	missense variant	-	NC_000015.10:g.28081853C>T	1000Genomes,ExAC,gnomAD
rs554862186	p.Arg10Trp	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.28081847G>A	UniProt,dbSNP
VAR_020622	p.Arg10Trp	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.28081847G>A	UniProt
rs554862186	p.Arg10Trp	missense variant	-	NC_000015.10:g.28081847G>A	1000Genomes,ExAC,gnomAD
rs199752361	p.Arg10Gln	missense variant	-	NC_000015.10:g.28081846C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199752361	p.Arg10Gln	missense variant	-	NC_000015.10:g.28081846C>T	NCI-TCGA,NCI-TCGA Cosmic
rs759852184	p.Pro12Ala	missense variant	-	NC_000015.10:g.28081841G>C	ExAC,gnomAD
rs759852184	p.Pro12Thr	missense variant	-	NC_000015.10:g.28081841G>T	ExAC,gnomAD
rs1029264707	p.Pro12Leu	missense variant	-	NC_000015.10:g.28081840G>A	TOPMed
rs201554429	p.Gly13Arg	missense variant	-	NC_000015.10:g.28081838C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000302507	p.Gly13Ser	missense variant	-	NC_000015.10:g.28081838C>T	ClinVar
rs201554429	p.Gly13Ser	missense variant	-	NC_000015.10:g.28081838C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368928996	p.Ala14Thr	missense variant	-	NC_000015.10:g.28081835C>T	NCI-TCGA,NCI-TCGA Cosmic
rs763734477	p.Ala14Val	missense variant	-	NC_000015.10:g.28081834G>A	NCI-TCGA
rs763734477	p.Ala14Val	missense variant	-	NC_000015.10:g.28081834G>A	ExAC,TOPMed,gnomAD
rs368928996	p.Ala14Thr	missense variant	-	NC_000015.10:g.28081835C>T	ESP,ExAC,TOPMed,gnomAD
rs201291702	p.Pro15Leu	missense variant	-	NC_000015.10:g.28081831G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs775303364	p.Pro15Ser	missense variant	-	NC_000015.10:g.28081832G>A	ExAC,gnomAD
rs201291702	p.Pro15Leu	missense variant	-	NC_000015.10:g.28081831G>A	NCI-TCGA
rs776573914	p.Ala16Val	missense variant	-	NC_000015.10:g.28081828G>A	ExAC,gnomAD
rs776573914	p.Ala16Val	missense variant	-	NC_000015.10:g.28081828G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1237182917	p.Val17Glu	missense variant	-	NC_000015.10:g.28081825A>T	TOPMed
rs1237182917	p.Val17Glu	missense variant	-	NC_000015.10:g.28081825A>T	NCI-TCGA
rs747007633	p.Glu18Gly	missense variant	-	NC_000015.10:g.28081822T>C	ExAC,TOPMed,gnomAD
rs748332005	p.Leu20Val	missense variant	-	NC_000015.10:g.28081817G>C	ExAC,gnomAD
rs748332005	p.Leu20Met	missense variant	-	NC_000015.10:g.28081817G>T	ExAC,gnomAD
rs61742223	p.Gln21His	missense variant	-	NC_000015.10:g.28081812C>A	gnomAD
rs61742223	p.Gln21His	missense variant	-	NC_000015.10:g.28081812C>G	gnomAD
rs779114740	p.Thr22Met	missense variant	-	NC_000015.10:g.28081810G>A	ExAC,TOPMed,gnomAD
rs766829294	p.Val24Met	missense variant	-	NC_000015.10:g.28081805C>T	ExAC,gnomAD
rs1426141034	p.Pro25Ser	missense variant	-	NC_000015.10:g.28081802G>A	gnomAD
rs756543761	p.Pro25Leu	missense variant	-	NC_000015.10:g.28081801G>A	ExAC,gnomAD
RCV000727245	p.Gly27Arg	missense variant	-	NC_000015.10:g.28081796C>T	ClinVar
rs61738394	p.Gly27Arg	missense variant	-	NC_000015.10:g.28081796C>T	1000Genomes,ESP,ExAC,TOPMed
rs61738394	p.Gly27Arg	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.28081796C>T	UniProt,dbSNP
VAR_006117	p.Gly27Arg	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.28081796C>T	UniProt
rs61738394	p.Gly27Arg	missense variant	-	NC_000015.10:g.28081796C>G	1000Genomes,ESP,ExAC,TOPMed
rs762581976	p.Gly27Glu	missense variant	-	NC_000015.10:g.28081795C>T	ExAC,gnomAD
rs759291231	p.Ala29Thr	missense variant	-	NC_000015.10:g.28081790C>T	ExAC,TOPMed,gnomAD
rs776260039	p.Ala29Asp	missense variant	-	NC_000015.10:g.28081789G>T	ExAC,gnomAD
RCV000264722	p.Ala29Thr	missense variant	Oculocutaneous albinism	NC_000015.10:g.28081790C>T	ClinVar
NCI-TCGA novel	p.Ala29Ser	missense variant	-	NC_000015.10:g.28081790C>A	NCI-TCGA
rs746874901	p.Glu30Ala	missense variant	-	NC_000015.10:g.28081786T>G	ExAC,gnomAD
rs770810288	p.Glu30Lys	missense variant	-	NC_000015.10:g.28081787C>T	ExAC,TOPMed,gnomAD
rs770810288	p.Glu30Gln	missense variant	-	NC_000015.10:g.28081787C>G	ExAC,TOPMed,gnomAD
rs772076517	p.Leu31Phe	missense variant	-	NC_000015.10:g.28081784G>A	ExAC,gnomAD
rs772076517	p.Leu31Val	missense variant	-	NC_000015.10:g.28081784G>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu31Arg	missense variant	-	NC_000015.10:g.28081783A>C	NCI-TCGA
rs1321894065	p.Val32Leu	missense variant	-	NC_000015.10:g.28081781C>A	TOPMed,gnomAD
rs748244078	p.Ala33Ser	missense variant	-	NC_000015.10:g.28081778C>A	ExAC,gnomAD
rs548427771	p.Ala33Val	missense variant	-	NC_000015.10:g.28081777G>A	1000Genomes
rs367553582	p.Gly34Ser	missense variant	-	NC_000015.10:g.28081775C>T	NCI-TCGA
rs367553582	p.Gly34Ser	missense variant	-	NC_000015.10:g.28081775C>T	ESP,ExAC,TOPMed,gnomAD
rs749561420	p.Lys35Glu	missense variant	-	NC_000015.10:g.28081772T>C	ExAC,gnomAD
rs143429491	p.Arg36Pro	missense variant	-	NC_000015.10:g.28081768C>G	ESP,ExAC,TOPMed,gnomAD
rs143429491	p.Arg36Leu	missense variant	-	NC_000015.10:g.28081768C>A	ESP,ExAC,TOPMed,gnomAD
rs148066812	p.Arg36Cys	missense variant	-	NC_000015.10:g.28081769G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143429491	p.Arg36His	missense variant	-	NC_000015.10:g.28081768C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg36Ser	missense variant	-	NC_000015.10:g.28081769G>T	NCI-TCGA
rs1175658810	p.Arg37Lys	missense variant	-	NC_000015.10:g.28081765C>T	gnomAD
rs41309258	p.Arg37Ser	missense variant	-	NC_000015.10:g.28081764C>A	ExAC,TOPMed,gnomAD
rs1426918298	p.Leu38Phe	missense variant	-	NC_000015.10:g.28081763G>A	TOPMed,gnomAD
rs1212574604	p.Arg40Gln	missense variant	-	NC_000015.10:g.28081756C>T	NCI-TCGA Cosmic
rs1212574604	p.Arg40Gln	missense variant	-	NC_000015.10:g.28081756C>T	TOPMed
rs757923752	p.Arg40Trp	missense variant	-	NC_000015.10:g.28081757G>A	ExAC,gnomAD
RCV000500286	p.Gly41Ter	frameshift	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.28081750_28081757del	ClinVar
rs545820701	p.Gly43Ser	missense variant	-	NC_000015.10:g.28081748C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000622436	p.Gly44Ter	frameshift	Inborn genetic diseases	NC_000015.10:g.28081745del	ClinVar
rs1198832011	p.Gly44Val	missense variant	-	NC_000015.10:g.28081744C>A	TOPMed
rs766051204	p.Asp46Gly	missense variant	-	NC_000015.10:g.28081738T>C	ExAC,gnomAD
rs1459745609	p.Asp46Glu	missense variant	-	NC_000015.10:g.28081737G>T	gnomAD
rs766051204	p.Asp46Val	missense variant	-	NC_000015.10:g.28081738T>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro47Leu	missense variant	-	NC_000015.10:g.28081735G>A	NCI-TCGA
rs576846193	p.Ser48Leu	missense variant	-	NC_000015.10:g.28081732G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs549983090	p.Ser50Phe	missense variant	-	NC_000015.10:g.28081726G>A	gnomAD
rs549983090	p.Ser50Cys	missense variant	-	NC_000015.10:g.28081726G>C	gnomAD
rs1423303674	p.Cys51Gly	missense variant	-	NC_000015.10:g.28081724A>C	TOPMed
rs200885801	p.Pro52Arg	missense variant	-	NC_000015.10:g.28081720G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs200885801	p.Pro52Leu	missense variant	-	NC_000015.10:g.28081720G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1034863880	p.Arg53Lys	missense variant	-	NC_000015.10:g.28081717C>T	TOPMed
rs1379944735	p.Arg53Ser	missense variant	-	NC_000015.10:g.28081716C>A	gnomAD
rs761810483	p.Arg53Gly	missense variant	-	NC_000015.10:g.28081718T>C	ExAC,gnomAD
rs761810483	p.Arg53Trp	missense variant	-	NC_000015.10:g.28081718T>A	ExAC,gnomAD
rs774380004	p.Gly54Arg	missense variant	-	NC_000015.10:g.28081715C>T	ExAC,gnomAD
rs965907142	p.Gly54Glu	missense variant	-	NC_000015.10:g.28081714C>T	gnomAD
rs749418896	p.Ala55Thr	missense variant	-	NC_000015.10:g.28081712C>T	ExAC,TOPMed,gnomAD
rs749418896	p.Ala55Ser	missense variant	-	NC_000015.10:g.28081712C>A	ExAC,TOPMed,gnomAD
rs867941204	p.Ala56Gly	missense variant	-	NC_000015.10:g.28081708G>C	TOPMed
rs867941204	p.Ala56Val	missense variant	-	NC_000015.10:g.28081708G>A	TOPMed
rs1457587922	p.Ala56Ser	missense variant	-	NC_000015.10:g.28081709C>A	gnomAD
rs746247850	p.Gly57Ala	missense variant	-	NC_000015.10:g.28081705C>G	ExAC,TOPMed,gnomAD
rs372901106	p.Gly57Arg	missense variant	-	NC_000015.10:g.28081706C>T	ESP,ExAC,TOPMed,gnomAD
rs746247850	p.Gly57Glu	missense variant	-	NC_000015.10:g.28081705C>T	ExAC,TOPMed,gnomAD
rs372901106	p.Gly57Arg	missense variant	-	NC_000015.10:g.28081706C>T	NCI-TCGA,NCI-TCGA Cosmic
COSM6076975	p.Gln58His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.28081701C>A	NCI-TCGA Cosmic
rs1182516404	p.Gln58Arg	missense variant	-	NC_000015.10:g.28081702T>C	gnomAD
rs781727577	p.Gln58Ter	stop gained	-	NC_000015.10:g.28081703G>A	ExAC,TOPMed,gnomAD
rs781727577	p.Gln58Lys	missense variant	-	NC_000015.10:g.28081703G>T	ExAC,TOPMed,gnomAD
RCV000500321	p.Gln58Ter	frameshift	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.28081706del	ClinVar
rs1482513844	p.Ser60Pro	missense variant	-	NC_000015.10:g.28081697A>G	gnomAD
rs752161782	p.Trp61Ter	stop gained	-	NC_000015.10:g.28081693C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp61Leu	missense variant	-	NC_000015.10:g.28081693C>A	NCI-TCGA
rs1209695913	p.Ala62Val	missense variant	-	NC_000015.10:g.28081690G>A	gnomAD
rs754549783	p.Pro63Ala	missense variant	-	NC_000015.10:g.28081688G>C	ExAC,TOPMed,gnomAD
rs754549783	p.Pro63Ser	missense variant	-	NC_000015.10:g.28081688G>A	ExAC,TOPMed,gnomAD
rs753368228	p.Ala64Thr	missense variant	-	NC_000015.10:g.28081685C>T	ExAC,gnomAD
rs753368228	p.Ala64Pro	missense variant	-	NC_000015.10:g.28081685C>G	ExAC,gnomAD
rs1322917049	p.Gln66Arg	missense variant	-	NC_000015.10:g.28081678T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Ala69Ser	missense variant	-	NC_000015.10:g.28081670C>A	NCI-TCGA
rs1367553457	p.Arg76Lys	missense variant	-	NC_000015.10:g.28081648C>T	gnomAD
rs147785669	p.Arg76Trp	missense variant	-	NC_000015.10:g.28081649T>A	ESP,ExAC,TOPMed,gnomAD
rs1367553457	p.Arg76Thr	missense variant	-	NC_000015.10:g.28081648C>G	gnomAD
rs531777637	p.His78Tyr	missense variant	-	NC_000015.10:g.28032159G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM1301008	p.Ser79Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.28032155G>T	NCI-TCGA Cosmic
rs1406242149	p.Pro82Ala	missense variant	-	NC_000015.10:g.28032147G>C	TOPMed
COSM1372226	p.Met84Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.28032139C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser85Tyr	missense variant	-	NC_000015.10:g.28032137G>T	NCI-TCGA
rs1024467465	p.Ser86Thr	missense variant	-	NC_000015.10:g.28032134C>G	gnomAD
rs772243109	p.Ser86Arg	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.28032133G>T	UniProt,dbSNP
VAR_006118	p.Ser86Arg	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.28032133G>T	UniProt
rs772243109	p.Ser86Arg	missense variant	-	NC_000015.10:g.28032133G>T	-
rs1404087528	p.Arg88Ser	missense variant	-	NC_000015.10:g.28032127C>G	TOPMed,gnomAD
rs1168047336	p.Lys90Thr	missense variant	-	NC_000015.10:g.28032122T>G	gnomAD
rs755736455	p.Asp91Glu	missense variant	-	NC_000015.10:g.28032118A>T	ExAC,gnomAD
rs560935571	p.Asp91Tyr	missense variant	-	NC_000015.10:g.28032120C>A	ExAC,TOPMed,gnomAD
rs542571783	p.Asp91Val	missense variant	-	NC_000015.10:g.28032119T>A	ExAC,TOPMed,gnomAD
rs750120991	p.Cys93Tyr	missense variant	-	NC_000015.10:g.28032113C>T	ExAC,gnomAD
rs750120991	p.Cys93Ser	missense variant	-	NC_000015.10:g.28032113C>G	ExAC,gnomAD
rs372184971	p.Glu96Lys	missense variant	-	NC_000015.10:g.28032105C>T	ESP,TOPMed
rs748287294	p.Glu96Ala	missense variant	-	NC_000015.10:g.28032104T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu96Ter	stop gained	-	NC_000015.10:g.28032105C>A	NCI-TCGA
rs1183314534	p.Thr98Ala	missense variant	-	NC_000015.10:g.28032099T>C	NCI-TCGA
rs1183314534	p.Thr98Ala	missense variant	-	NC_000015.10:g.28032099T>C	gnomAD
rs757072925	p.Pro99Ala	missense variant	-	NC_000015.10:g.28032096G>C	ExAC,gnomAD
rs757072925	p.Pro99Thr	missense variant	-	NC_000015.10:g.28032096G>T	ExAC,gnomAD
rs764104457	p.Leu101Pro	missense variant	-	NC_000015.10:g.28032089A>G	ExAC,gnomAD
NCI-TCGA novel	p.Arg102Ser	missense variant	-	NC_000015.10:g.28032085C>A	NCI-TCGA
rs1235091618	p.Ser104Phe	missense variant	-	NC_000015.10:g.28032080G>A	gnomAD
rs1282448249	p.Gln106Arg	missense variant	-	NC_000015.10:g.28032074T>C	gnomAD
rs1225371196	p.Glu107Asp	missense variant	-	NC_000015.10:g.28032070C>A	TOPMed
rs1403009794	p.Lys108Asn	missense variant	-	NC_000015.10:g.28032067T>G	gnomAD
rs1352327430	p.Gly109Ala	missense variant	-	NC_000015.10:g.28032065C>G	gnomAD
rs904727427	p.Gly109Arg	missense variant	-	NC_000015.10:g.28032066C>G	TOPMed
NCI-TCGA novel	p.Ser110Leu	missense variant	-	NC_000015.10:g.28028057G>A	NCI-TCGA
COSM1372224	p.Arg111Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.28028054C>T	NCI-TCGA Cosmic
rs1280092718	p.Arg111Trp	missense variant	-	NC_000015.10:g.28028055G>A	gnomAD
rs1280092718	p.Arg111Trp	missense variant	-	NC_000015.10:g.28028055G>A	NCI-TCGA Cosmic
rs562649990	p.Cys112Phe	missense variant	-	NC_000015.10:g.28028051C>A	ExAC,TOPMed,gnomAD
rs529695988	p.Ile113Val	missense variant	-	NC_000015.10:g.28028049T>C	1000Genomes,TOPMed,gnomAD
rs529695988	p.Ile113Leu	missense variant	-	NC_000015.10:g.28028049T>A	1000Genomes,TOPMed,gnomAD
NCI-TCGA novel	p.Pro114Leu	missense variant	-	NC_000015.10:g.28028045G>A	NCI-TCGA
COSM4870992	p.Val115Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.28028042A>G	NCI-TCGA Cosmic
rs1314312278	p.Val115Ile	missense variant	-	NC_000015.10:g.28028043C>T	gnomAD
rs34385677	p.Thr122Ile	missense variant	-	NC_000015.10:g.28028021G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370230176	p.Ala123Asp	missense variant	-	NC_000015.10:g.28028018G>T	ESP,ExAC,TOPMed,gnomAD
rs370230176	p.Ala123Val	missense variant	-	NC_000015.10:g.28028018G>A	ESP,ExAC,TOPMed,gnomAD
rs368106059	p.Glu124Ala	missense variant	-	NC_000015.10:g.28028015T>G	ESP,ExAC,TOPMed,gnomAD
rs1490438033	p.Ser126Phe	missense variant	-	NC_000015.10:g.28028009G>A	TOPMed
rs759691635	p.Ser131Phe	missense variant	-	NC_000015.10:g.28027994G>A	ExAC,TOPMed,gnomAD
rs759691635	p.Ser131Cys	missense variant	-	NC_000015.10:g.28027994G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu135Lys	missense variant	-	NC_000015.10:g.28027983C>T	NCI-TCGA
rs35764631	p.Arg136Gln	missense variant	-	NC_000015.10:g.28027979C>T	NCI-TCGA
rs201791790	p.Arg136Ter	stop gained	-	NC_000015.10:g.28027980G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs35764631	p.Arg136Gln	missense variant	-	NC_000015.10:g.28027979C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr138His	missense variant	-	NC_000015.10:g.28027974A>G	NCI-TCGA
COSM3969048	p.Leu140Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.28027967A>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu140Val	missense variant	-	NC_000015.10:g.28027968G>C	NCI-TCGA
rs1284747104	p.Ser141Asn	missense variant	-	NC_000015.10:g.28027964C>T	TOPMed,gnomAD
rs1348526174	p.Arg142Ser	missense variant	-	NC_000015.10:g.28027960C>A	gnomAD
rs772367330	p.Arg142Trp	missense variant	-	NC_000015.10:g.28027962T>A	ExAC,gnomAD
rs375241880	p.Glu143Val	missense variant	-	NC_000015.10:g.28027958T>A	ESP,ExAC,gnomAD
rs1246082851	p.Gly146Val	missense variant	-	NC_000015.10:g.28027949C>A	gnomAD
rs1366455690	p.Ser148Thr	missense variant	-	NC_000015.10:g.28027944A>T	TOPMed
RCV000414559	p.Ser148Ter	frameshift	-	NC_000015.10:g.28027946dup	ClinVar
NCI-TCGA novel	p.Ser148Cys	missense variant	-	NC_000015.10:g.28027943G>C	NCI-TCGA
rs1390969502	p.Ala149Thr	missense variant	-	NC_000015.10:g.28027941C>T	gnomAD
rs1436880387	p.Ser150Phe	missense variant	-	NC_000015.10:g.28027937G>A	gnomAD
rs745397950	p.Ala151Thr	missense variant	-	NC_000015.10:g.28027935C>T	ExAC,gnomAD
rs780740527	p.Ser152Pro	missense variant	-	NC_000015.10:g.28027932A>G	ExAC,gnomAD
rs756930764	p.Ser152Phe	missense variant	-	NC_000015.10:g.28027931G>A	ExAC,gnomAD
COSM3500266	p.Ser153Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.28027928G>A	NCI-TCGA Cosmic
rs943845807	p.Ser153Thr	missense variant	-	NC_000015.10:g.28027929A>T	TOPMed,gnomAD
rs943845807	p.Ser153Pro	missense variant	-	NC_000015.10:g.28027929A>G	TOPMed,gnomAD
rs746681064	p.Glu154Lys	missense variant	-	NC_000015.10:g.28027926C>T	ExAC,gnomAD
rs777602121	p.Lys155Asn	missense variant	-	NC_000015.10:g.28027921C>A	ExAC,gnomAD
rs1432167731	p.Asp157His	missense variant	-	NC_000015.10:g.28027917C>G	TOPMed
rs1432167731	p.Asp157Asn	missense variant	-	NC_000015.10:g.28027917C>T	TOPMed
rs1475892910	p.Leu159Pro	missense variant	-	NC_000015.10:g.28027910A>G	gnomAD
NCI-TCGA novel	p.Leu159Met	missense variant	-	NC_000015.10:g.28027911G>T	NCI-TCGA
rs758157709	p.Ser161Gly	missense variant	-	NC_000015.10:g.28027905T>C	ExAC,gnomAD
rs779005824	p.Pro162Leu	missense variant	-	NC_000015.10:g.28027901G>A	ExAC,gnomAD
rs139950883	p.Pro162Ser	missense variant	-	NC_000015.10:g.28027902G>A	ESP,ExAC,TOPMed,gnomAD
rs755020630	p.His163Tyr	missense variant	-	NC_000015.10:g.28027899G>A	ExAC,gnomAD
NCI-TCGA novel	p.His163Leu	missense variant	-	NC_000015.10:g.28027898T>A	NCI-TCGA
rs766602770	p.Ile164Asn	missense variant	-	NC_000015.10:g.28027895A>T	ExAC,TOPMed,gnomAD
rs371349719	p.Arg165Gln	missense variant	-	NC_000015.10:g.28027892C>T	ESP,ExAC,TOPMed,gnomAD
rs371349719	p.Arg165Pro	missense variant	-	NC_000015.10:g.28027892C>G	ESP,ExAC,TOPMed,gnomAD
rs371349719	p.Arg165Gln	missense variant	-	NC_000015.10:g.28027892C>T	NCI-TCGA
rs1429075390	p.Arg167Cys	missense variant	-	NC_000015.10:g.28027887G>A	TOPMed,gnomAD
rs1429075390	p.Arg167Cys	missense variant	-	NC_000015.10:g.28027887G>A	NCI-TCGA Cosmic
rs151118268	p.Arg167His	missense variant	-	NC_000015.10:g.28027886C>T	NCI-TCGA,NCI-TCGA Cosmic
rs151118268	p.Arg167His	missense variant	-	NC_000015.10:g.28027886C>T	ESP,ExAC,TOPMed,gnomAD
rs1216461156	p.Leu168Pro	missense variant	-	NC_000015.10:g.28027883A>G	TOPMed
rs767886586	p.Ser169Ala	missense variant	-	NC_000015.10:g.28027881A>C	ExAC,gnomAD
rs1188916762	p.Ser169Phe	missense variant	-	NC_000015.10:g.28027880G>A	gnomAD
rs1404927443	p.Lys170Asn	missense variant	-	NC_000015.10:g.28027876C>A	gnomAD
rs762091768	p.Arg172Thr	missense variant	-	NC_000015.10:g.28027871C>G	ExAC,gnomAD
rs368907318	p.Arg173His	missense variant	-	NC_000015.10:g.28024900C>T	NCI-TCGA,NCI-TCGA Cosmic
rs368907318	p.Arg173His	missense variant	-	NC_000015.10:g.28024900C>T	ESP,ExAC,gnomAD
rs538576672	p.Arg173Cys	missense variant	-	NC_000015.10:g.28024901G>A	NCI-TCGA,NCI-TCGA Cosmic
rs538576672	p.Arg173Cys	missense variant	-	NC_000015.10:g.28024901G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1278188372	p.Cys174Arg	missense variant	-	NC_000015.10:g.28024898A>G	TOPMed
RCV000503665	p.Lys179Glu	missense variant	-	NC_000015.10:g.28024883T>C	ClinVar
rs1277911369	p.Lys179Glu	missense variant	-	NC_000015.10:g.28024883T>C	gnomAD
rs375044814	p.Met181Thr	missense variant	-	NC_000015.10:g.28024876A>G	ESP,TOPMed
rs372681761	p.Leu183Pro	missense variant	-	NC_000015.10:g.28024870A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu183Met	missense variant	-	NC_000015.10:g.28024871G>T	NCI-TCGA
NCI-TCGA novel	p.Ala185Thr	missense variant	-	NC_000015.10:g.28024865C>T	NCI-TCGA
rs781401728	p.Cys190Tyr	missense variant	-	NC_000015.10:g.28024849C>T	ExAC,gnomAD
rs1158730024	p.Ser191Phe	missense variant	-	NC_000015.10:g.28024846G>A	TOPMed
rs1244040411	p.Leu193Ter	stop gained	-	NC_000015.10:g.28022569A>T	gnomAD
rs1382588408	p.Ser195Arg	missense variant	-	NC_000015.10:g.28022562G>T	gnomAD
rs1325595972	p.Ser195Asn	missense variant	-	NC_000015.10:g.28022563C>T	TOPMed
rs767092342	p.Ser195Gly	missense variant	-	NC_000015.10:g.28022564T>C	ExAC,TOPMed,gnomAD
rs144175965	p.Leu196Arg	missense variant	-	NC_000015.10:g.28022560A>C	ESP
COSM470468	p.Tyr197Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.28022557T>G	NCI-TCGA Cosmic
rs774094276	p.Tyr197Ter	stop gained	-	NC_000015.10:g.28022556A>C	ExAC
rs1377454425	p.Tyr197Phe	missense variant	-	NC_000015.10:g.28022557T>A	TOPMed,gnomAD
rs183487020	p.Pro198Leu	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.28022554G>A	UniProt,dbSNP
VAR_020623	p.Pro198Leu	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.28022554G>A	UniProt
rs183487020	p.Pro198Leu	missense variant	-	NC_000015.10:g.28022554G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000604129	p.Pro198Leu	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.28022554G>A	ClinVar
rs1365641768	p.Asp199Gly	missense variant	-	NC_000015.10:g.28022551T>C	gnomAD
rs769681202	p.Gln200Glu	missense variant	-	NC_000015.10:g.28022549G>C	ExAC,TOPMed,gnomAD
rs139562520	p.Gln200His	missense variant	-	NC_000015.10:g.28022547T>A	ESP,ExAC,TOPMed,gnomAD
rs745745058	p.Gln200Arg	missense variant	-	NC_000015.10:g.28022548T>C	ExAC,gnomAD
rs770939956	p.Gly201Arg	missense variant	-	NC_000015.10:g.28022546C>T	ExAC,gnomAD
rs1255736031	p.Leu203Pro	missense variant	-	NC_000015.10:g.28022539A>G	TOPMed
NCI-TCGA novel	p.Gln205His	missense variant	-	NC_000015.10:g.28022532C>A	NCI-TCGA
VAR_006120	p.Leu206_Pro211del	inframe_deletion	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]	-	UniProt
rs757022651	p.Ala208Thr	missense variant	-	NC_000015.10:g.28022525C>T	ExAC,TOPMed,gnomAD
rs1202202492	p.Leu209Phe	missense variant	-	NC_000015.10:g.28022520T>A	gnomAD
rs190612616	p.Pro211Leu	missense variant	-	NC_000015.10:g.28022515G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777893926	p.Pro211Ala	missense variant	-	NC_000015.10:g.28022516G>C	ExAC,TOPMed,gnomAD
RCV000179281	p.Pro211Leu	missense variant	-	NC_000015.10:g.28022515G>A	ClinVar
rs748448103	p.Leu212Met	missense variant	-	NC_000015.10:g.28022513G>T	ExAC,TOPMed,gnomAD
rs779096530	p.Glu213Val	missense variant	-	NC_000015.10:g.28022509T>A	ExAC,TOPMed,gnomAD
rs1227842181	p.Ser216Thr	missense variant	-	NC_000015.10:g.28022501A>T	gnomAD
rs773252077	p.Val217Met	missense variant	-	NC_000015.10:g.28018555C>T	ExAC,gnomAD
rs552997127	p.Leu219Phe	missense variant	-	NC_000015.10:g.28018549G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs751309779	p.His222Gln	missense variant	-	NC_000015.10:g.28018538G>C	ExAC,TOPMed,gnomAD
rs1390458631	p.Val223Met	missense variant	-	NC_000015.10:g.28018537C>T	gnomAD
rs1339041321	p.Asp224Gly	missense variant	-	NC_000015.10:g.28018533T>C	gnomAD
rs1397679702	p.Asp224Tyr	missense variant	-	NC_000015.10:g.28018534C>A	gnomAD
rs1190540714	p.Ser225Phe	missense variant	-	NC_000015.10:g.28018530G>A	TOPMed
NCI-TCGA novel	p.Ser225Tyr	missense variant	-	NC_000015.10:g.28018530G>T	NCI-TCGA
rs377617821	p.Thr226Lys	missense variant	-	NC_000015.10:g.28018527G>T	ESP,ExAC,TOPMed,gnomAD
rs377617821	p.Thr226Met	missense variant	-	NC_000015.10:g.28018527G>A	ESP,ExAC,TOPMed,gnomAD
RCV000778424	p.Leu228Ter	frameshift	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.28018523del	ClinVar
rs756661240	p.Gln229Lys	missense variant	-	NC_000015.10:g.28018519G>T	ExAC,gnomAD
rs148659233	p.Val230Leu	missense variant	-	NC_000015.10:g.28018516C>A	ESP,ExAC,TOPMed,gnomAD
rs148659233	p.Val230Met	missense variant	-	NC_000015.10:g.28018516C>T	ESP,ExAC,TOPMed,gnomAD
rs1158901124	p.Asp231Asn	missense variant	-	NC_000015.10:g.28018513C>T	TOPMed
rs757957606	p.Ala233Val	missense variant	-	NC_000015.10:g.28018506G>A	ExAC
NCI-TCGA novel	p.Ala233Glu	missense variant	-	NC_000015.10:g.28018506G>T	NCI-TCGA
NCI-TCGA novel	p.Gly234Val	missense variant	-	NC_000015.10:g.28018503C>A	NCI-TCGA
rs764929500	p.Ala235Ser	missense variant	-	NC_000015.10:g.28018501C>A	ExAC,gnomAD
rs759177084	p.Leu236Ile	missense variant	-	NC_000015.10:g.28018498G>T	ExAC,TOPMed,gnomAD
rs753597266	p.Leu236Pro	missense variant	-	NC_000015.10:g.28018497A>G	ExAC,gnomAD
rs1362087744	p.Val237Leu	missense variant	-	NC_000015.10:g.28018495C>G	TOPMed
rs1352835566	p.Ala238Thr	missense variant	-	NC_000015.10:g.28018492C>T	gnomAD
COSM4053804	p.Gly240Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.28018485C>A	NCI-TCGA Cosmic
rs2305253	p.Pro241Arg	missense variant	-	NC_000015.10:g.28018482G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2305253	p.Pro241Arg	missense variant	-	NC_000015.10:g.28018482G>C	UniProt,dbSNP
VAR_022019	p.Pro241Arg	missense variant	-	NC_000015.10:g.28018482G>C	UniProt
rs2305253	p.Pro241Leu	missense variant	-	NC_000015.10:g.28018482G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000366803	p.Pro241Arg	missense variant	Oculocutaneous albinism	NC_000015.10:g.28018482G>C	ClinVar
NCI-TCGA novel	p.Ser242Ile	missense variant	-	NC_000015.10:g.28018479C>A	NCI-TCGA
NCI-TCGA novel	p.Ser242Asn	missense variant	-	NC_000015.10:g.28018479C>T	NCI-TCGA
rs766911058	p.Arg243His	missense variant	-	NC_000015.10:g.28018476C>T	gnomAD
RCV000179741	p.Arg243Cys	missense variant	-	NC_000015.10:g.28018477G>A	ClinVar
rs138065338	p.Arg243Cys	missense variant	-	NC_000015.10:g.28018477G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg243Leu	missense variant	-	NC_000015.10:g.28018476C>A	NCI-TCGA
rs1267286176	p.Pro244Ser	missense variant	-	NC_000015.10:g.28018474G>A	TOPMed
NCI-TCGA novel	p.Gly245Arg	missense variant	-	NC_000015.10:g.28018471C>T	NCI-TCGA
NCI-TCGA novel	p.Arg246Ser	missense variant	-	NC_000015.10:g.28018466C>A	NCI-TCGA
NCI-TCGA novel	p.His249Gln	inframe deletion	-	NC_000015.10:g.28018443_28018457AGCTCCACCACGATG>-	NCI-TCGA
rs1204744192	p.Ile250Thr	missense variant	-	NC_000015.10:g.28018455A>G	gnomAD
rs555796333	p.Ile250Val	missense variant	-	NC_000015.10:g.28018456T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs775978192	p.Val251Ala	missense variant	-	NC_000015.10:g.28018452A>G	ExAC,gnomAD
rs147432138	p.Val251Met	missense variant	-	NC_000015.10:g.28018453C>T	ESP,ExAC,TOPMed,gnomAD
rs1258451850	p.Leu254Arg	missense variant	-	NC_000015.10:g.28018443A>C	TOPMed
rs535681042	p.Thr255Ile	missense variant	-	NC_000015.10:g.28018440G>A	1000Genomes,ExAC,gnomAD
rs1387203745	p.Gln256His	missense variant	-	NC_000015.10:g.28018436C>G	gnomAD
rs757789602	p.Asp258Glu	missense variant	-	NC_000015.10:g.28018430G>C	ExAC,TOPMed,gnomAD
rs781765892	p.Asp258Val	missense variant	-	NC_000015.10:g.28018431T>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp258Glu	missense variant	-	NC_000015.10:g.28018430G>T	NCI-TCGA
rs747689027	p.Ala259Thr	missense variant	-	NC_000015.10:g.28018429C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala259Ser	missense variant	-	NC_000015.10:g.28018429C>A	NCI-TCGA
rs754635524	p.Gly261Asp	missense variant	-	NC_000015.10:g.28018422C>T	ExAC,gnomAD
rs754635524	p.Gly261Val	missense variant	-	NC_000015.10:g.28018422C>A	ExAC,gnomAD
rs201304818	p.Ser262Phe	missense variant	-	NC_000015.10:g.28018419G>A	gnomAD
rs766119766	p.Arg263Ser	missense variant	-	NC_000015.10:g.28018415C>A	ExAC,gnomAD
rs755904696	p.Trp264Cys	missense variant	-	NC_000015.10:g.28018412C>A	ExAC,TOPMed,gnomAD
rs750298814	p.Arg265Trp	missense variant	-	NC_000015.10:g.28018411G>A	ExAC,TOPMed,gnomAD
rs567007076	p.Arg265Gln	missense variant	-	NC_000015.10:g.28018410C>T	1000Genomes,ExAC,gnomAD
RCV000247649	p.Arg266Trp	missense variant	-	NC_000015.10:g.28018408G>A	ClinVar
rs774460527	p.Arg266Pro	missense variant	-	NC_000015.10:g.28018407C>G	ExAC,TOPMed,gnomAD
rs774460527	p.Arg266Gln	missense variant	-	NC_000015.10:g.28018407C>T	ExAC,TOPMed,gnomAD
rs33929465	p.Arg266Trp	missense variant	-	NC_000015.10:g.28018408G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs33929465	p.Arg266Trp	missense variant	-	NC_000015.10:g.28018408G>A	UniProt,dbSNP
VAR_032094	p.Arg266Trp	missense variant	-	NC_000015.10:g.28018408G>A	UniProt
rs900925762	p.Pro267Leu	missense variant	-	NC_000015.10:g.28018404G>A	gnomAD
COSM4863800	p.Gln268His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.28018400C>G	NCI-TCGA Cosmic
rs1392180778	p.His272Arg	missense variant	-	NC_000015.10:g.28016179T>C	gnomAD
RCV000486337	p.Asn273LysVal	missense variant	-	NC_000015.10:g.28016172_28016175delinsGACC	ClinVar
rs1163403912	p.Asn273Thr	missense variant	-	NC_000015.10:g.28016176T>G	gnomAD
rs797044784	p.AsnTrp273LysVal	missense variant	-	NC_000015.10:g.28016172_28016175delinsGACC	-
rs558126113	p.Asn273Lys	missense variant	-	NC_000015.10:g.28016175G>C	1000Genomes,gnomAD
rs569395077	p.Trp274Leu	missense variant	-	NC_000015.10:g.28016173C>A	1000Genomes
rs549973474	p.Trp274Cys	missense variant	-	NC_000015.10:g.28016172C>G	1000Genomes
rs538385900	p.Trp274Gly	missense variant	-	NC_000015.10:g.28016174A>C	1000Genomes
NCI-TCGA novel	p.Trp274Ter	stop gained	-	NC_000015.10:g.28016172C>T	NCI-TCGA
rs369750458	p.Thr275Met	missense variant	-	NC_000015.10:g.28016170G>A	ESP,ExAC,TOPMed,gnomAD
rs369750458	p.Thr275Arg	missense variant	-	NC_000015.10:g.28016170G>C	ESP,ExAC,TOPMed,gnomAD
rs1197161915	p.Tyr277Cys	missense variant	-	NC_000015.10:g.28016164T>C	TOPMed,gnomAD
rs759876062	p.Tyr277Ter	stop gained	-	NC_000015.10:g.28016163A>T	ExAC,TOPMed
rs777030491	p.Pro280Ser	missense variant	-	NC_000015.10:g.28016156G>A	ExAC,TOPMed,gnomAD
rs771222516	p.Pro280Leu	missense variant	-	NC_000015.10:g.28016155G>A	ExAC,TOPMed,gnomAD
rs143320446	p.Ser283Arg	missense variant	-	NC_000015.10:g.28016145G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1365554324	p.Ser283Asn	missense variant	-	NC_000015.10:g.28016146C>T	gnomAD
NCI-TCGA novel	p.Ser283Gly	missense variant	-	NC_000015.10:g.28016147T>C	NCI-TCGA
rs200651760	p.Glu284Gly	missense variant	-	NC_000015.10:g.28016143T>C	1000Genomes
NCI-TCGA novel	p.Glu284Lys	missense variant	-	NC_000015.10:g.28016144C>T	NCI-TCGA
rs1436294624	p.His285Arg	missense variant	-	NC_000015.10:g.28016140T>C	TOPMed,gnomAD
RCV000180124	p.Ser289Ter	frameshift	-	NC_000015.10:g.28016127del	ClinVar
rs779603058	p.Ser289Arg	missense variant	-	NC_000015.10:g.28016127G>C	ExAC,gnomAD
rs769408559	p.Arg290Gly	missense variant	-	NC_000015.10:g.28016126T>C	ExAC,TOPMed,gnomAD
rs769408559	p.Arg290Gly	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.28016126T>C	UniProt,dbSNP
VAR_020625	p.Arg290Gly	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.28016126T>C	UniProt
rs1463893944	p.Arg290Lys	missense variant	-	NC_000015.10:g.28016125C>T	gnomAD
rs745573222	p.Phe292Leu	missense variant	-	NC_000015.10:g.28016120A>G	ExAC,TOPMed,gnomAD
rs780995523	p.Glu293Gly	missense variant	-	NC_000015.10:g.28016116T>C	ExAC,gnomAD
rs757035565	p.Glu293Asp	missense variant	-	NC_000015.10:g.28016115C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu293Gln	missense variant	-	NC_000015.10:g.28016117C>G	NCI-TCGA
rs1422437649	p.Val294Ile	missense variant	-	NC_000015.10:g.28016114C>T	gnomAD
rs746768883	p.Thr299Met	missense variant	-	NC_000015.10:g.28014924G>A	ExAC,TOPMed,gnomAD
COSM6076977	p.Val300Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.28014922C>A	NCI-TCGA Cosmic
rs982805430	p.Ile302Asn	missense variant	-	NC_000015.10:g.28014915A>T	TOPMed
rs1209400995	p.Ser303Gly	missense variant	-	NC_000015.10:g.28014913T>C	TOPMed
rs1360443204	p.Ser303Thr	missense variant	-	NC_000015.10:g.28014912C>G	gnomAD
rs752701632	p.Ile304Ser	missense variant	-	NC_000015.10:g.28014909A>C	ExAC,gnomAD
rs758386323	p.Ile304Val	missense variant	-	NC_000015.10:g.28014910T>C	ExAC,gnomAD
RCV000001013	p.Arg305Trp	missense variant	Skin/hair/eye pigmentation, variation in, 1 (SHEP1)	NC_000015.10:g.28014907G>A	ClinVar
rs141603023	p.Arg305Gln	missense variant	-	NC_000015.10:g.28014906C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1800401	p.Arg305Trp	missense variant	Skin/hair/eye pigmentation, variation in, 1 (shep1)	NC_000015.10:g.28014907G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs754030928	p.Ala306Val	missense variant	-	NC_000015.10:g.28014903G>A	ExAC,gnomAD
COSM3500264	p.Ser307Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.28014900G>A	NCI-TCGA Cosmic
COSM1323254	p.Gln309Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.28014895G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln309Lys	missense variant	-	NC_000015.10:g.28014895G>T	NCI-TCGA
NCI-TCGA novel	p.Gln309Arg	missense variant	-	NC_000015.10:g.28014894T>C	NCI-TCGA
COSM4053800	p.Ala313Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.28014882G>A	NCI-TCGA Cosmic
rs1030027107	p.Ala313Asp	missense variant	-	NC_000015.10:g.28014882G>T	TOPMed
rs762262964	p.Val314Gly	missense variant	-	NC_000015.10:g.28014879A>C	ExAC,TOPMed,gnomAD
rs767921992	p.Val314Leu	missense variant	-	NC_000015.10:g.28014880C>G	ExAC,gnomAD
rs1422153276	p.Pro315Arg	missense variant	-	NC_000015.10:g.28014876G>C	gnomAD
rs201481836	p.Pro315Ser	missense variant	-	NC_000015.10:g.28014877G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Leu316Ile	missense variant	-	NC_000015.10:g.28014874G>T	NCI-TCGA
rs529219961	p.Met318Ile	missense variant	-	NC_000015.10:g.28014866C>T	1000Genomes,ExAC,gnomAD
rs764662281	p.Met318Thr	missense variant	-	NC_000015.10:g.28014867A>G	ExAC,gnomAD
rs776265113	p.His320Tyr	missense variant	-	NC_000015.10:g.28014862G>A	ExAC,gnomAD
rs1425223093	p.Gln321Arg	missense variant	-	NC_000015.10:g.28014858T>C	TOPMed
rs542587081	p.Gln321Glu	missense variant	-	NC_000015.10:g.28014859G>C	1000Genomes,ExAC,gnomAD
rs542587081	p.Gln321Ter	stop gained	-	NC_000015.10:g.28014859G>A	1000Genomes,ExAC,gnomAD
rs573678989	p.Tyr322Cys	missense variant	-	NC_000015.10:g.28014855T>C	1000Genomes,ExAC,gnomAD
rs1199627951	p.Arg324His	missense variant	-	NC_000015.10:g.28014849C>T	gnomAD
rs146795884	p.Arg324Cys	missense variant	-	NC_000015.10:g.28014850G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs987498934	p.Gly325Arg	missense variant	-	NC_000015.10:g.28014847C>T	TOPMed,gnomAD
rs780219028	p.Val327Ala	missense variant	-	NC_000015.10:g.28014840A>G	ExAC,TOPMed,gnomAD
rs749321625	p.Val327Leu	missense variant	-	NC_000015.10:g.28014841C>A	ExAC,TOPMed,gnomAD
rs749321625	p.Val327Ile	missense variant	-	NC_000015.10:g.28014841C>T	ExAC,TOPMed,gnomAD
RCV000755081	p.Gln330Ter	frameshift	Nonsyndromic Oculocutaneous Albinism	NC_000015.10:g.28014833delinsTCT	ClinVar
NCI-TCGA novel	p.Val331Leu	missense variant	-	NC_000015.10:g.28014829C>G	NCI-TCGA
rs143615230	p.Thr332Pro	missense variant	-	NC_000015.10:g.28014826T>G	ESP,ExAC,TOPMed,gnomAD
rs1390874457	p.Thr332Ser	missense variant	-	NC_000015.10:g.28014825G>C	TOPMed,gnomAD
rs1456118236	p.Ala334Thr	missense variant	-	NC_000015.10:g.28014820C>T	gnomAD
RCV000624441	p.Ala334Thr	missense variant	Inborn genetic diseases	NC_000015.10:g.28014820C>T	ClinVar
RCV000001009	p.Ala334Val	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.28014819G>A	ClinVar
rs121918168	p.Ala334Val	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.28014819G>A	UniProt,dbSNP
VAR_020626	p.Ala334Val	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.28014819G>A	UniProt
rs121918168	p.Ala334Val	missense variant	-	NC_000015.10:g.28014819G>A	TOPMed,gnomAD
rs533988694	p.Thr335Met	missense variant	-	NC_000015.10:g.28014816G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000241894	p.Ala336Val	missense variant	-	NC_000015.10:g.28014813G>A	ClinVar
rs34010619	p.Ala336Val	missense variant	-	NC_000015.10:g.28014813G>A	UniProt,dbSNP
VAR_032095	p.Ala336Val	missense variant	-	NC_000015.10:g.28014813G>A	UniProt
rs34010619	p.Ala336Val	missense variant	-	NC_000015.10:g.28014813G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000180483	p.Ala339Ser	missense variant	-	NC_000015.10:g.28014805C>A	ClinVar
rs747940330	p.Ala339Glu	missense variant	-	NC_000015.10:g.28014804G>T	ExAC,TOPMed,gnomAD
rs148468031	p.Ala339Thr	missense variant	-	NC_000015.10:g.28014805C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs747940330	p.Ala339Val	missense variant	-	NC_000015.10:g.28014804G>A	ExAC,TOPMed,gnomAD
rs148468031	p.Ala339Ser	missense variant	-	NC_000015.10:g.28014805C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368159473	p.Val341Ile	missense variant	-	NC_000015.10:g.28014799C>T	ESP,ExAC,TOPMed,gnomAD
RCV000481251	p.Val341Ile	missense variant	-	NC_000015.10:g.28014799C>T	ClinVar
RCV000415383	p.Tyr342Cys	missense variant	Albinism	NC_000015.10:g.28014795T>C	ClinVar
rs142931246	p.Tyr342Ser	missense variant	-	NC_000015.10:g.28014795T>G	ESP,ExAC,TOPMed,gnomAD
rs1800403	p.Tyr342Ter	stop gained	-	NC_000015.10:g.28014794G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142931246	p.Tyr342Cys	missense variant	-	NC_000015.10:g.28014795T>C	ESP,ExAC,TOPMed,gnomAD
rs756251130	p.Ala343Thr	missense variant	-	NC_000015.10:g.28014793C>T	ExAC,gnomAD
rs746027599	p.Ala343Val	missense variant	-	NC_000015.10:g.28014792G>A	ExAC,TOPMed,gnomAD
rs1384647542	p.Leu344Pro	missense variant	-	NC_000015.10:g.28014789A>G	gnomAD
rs1375088412	p.Ile346Val	missense variant	-	NC_000015.10:g.28014784T>C	gnomAD
rs767182132	p.Ile349Met	missense variant	-	NC_000015.10:g.27990645G>C	ExAC,TOPMed,gnomAD
rs533478642	p.Val350Met	missense variant	-	NC_000015.10:g.27990644C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs533478642	p.Val350Met	missense variant	-	NC_000015.10:g.27990644C>T	UniProt,dbSNP
VAR_020627	p.Val350Met	missense variant	-	NC_000015.10:g.27990644C>T	UniProt
COSM4862801	p.Val350Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27990644C>A	NCI-TCGA Cosmic
COSM6141940	p.Arg352Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.27990638T>A	NCI-TCGA Cosmic
RCV000755083	p.Arg352Ser	missense variant	Nonsyndromic Oculocutaneous Albinism	NC_000015.10:g.27990636T>G	ClinVar
rs1286182158	p.Thr353Ile	missense variant	-	NC_000015.10:g.27990634G>A	gnomAD
rs1238971504	p.Leu354Val	missense variant	-	NC_000015.10:g.27990632G>C	gnomAD
rs1008522653	p.Leu354Pro	missense variant	-	NC_000015.10:g.27990631A>G	TOPMed,gnomAD
RCV000755084	p.Ala355Val	missense variant	Nonsyndromic Oculocutaneous Albinism	NC_000015.10:g.27990628G>A	ClinVar
rs570914443	p.Ala355Val	missense variant	-	NC_000015.10:g.27990628G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1246016828	p.Ala356Thr	missense variant	-	NC_000015.10:g.27990626C>T	gnomAD
rs1340355143	p.Ala356Val	missense variant	-	NC_000015.10:g.27990625G>A	gnomAD
rs1384475205	p.Met357Thr	missense variant	-	NC_000015.10:g.27990622A>G	TOPMed,gnomAD
rs1555368749	p.Gly359Arg	missense variant	-	NC_000015.10:g.27990617C>G	-
RCV000755085	p.Gly359Arg	missense variant	Nonsyndromic Oculocutaneous Albinism	NC_000015.10:g.27990617C>G	ClinVar
rs200398581	p.Gly359Asp	missense variant	-	NC_000015.10:g.27990616C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200398581	p.Gly359Ala	missense variant	-	NC_000015.10:g.27990616C>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000520462	p.Gly359Arg	missense variant	-	NC_000015.10:g.27990617C>G	ClinVar
NCI-TCGA novel	p.Ser360Phe	missense variant	-	NC_000015.10:g.27990613G>A	NCI-TCGA
rs769767739	p.Leu361Ile	missense variant	-	NC_000015.10:g.27990611G>T	ExAC,TOPMed,gnomAD
rs769767739	p.Leu361Val	missense variant	-	NC_000015.10:g.27990611G>C	ExAC,TOPMed,gnomAD
rs759511199	p.Ala362Thr	missense variant	-	NC_000015.10:g.27990608C>T	ExAC,gnomAD
rs1455772419	p.Leu364Val	missense variant	-	NC_000015.10:g.27990602G>C	TOPMed
rs1290121824	p.Leu364Arg	missense variant	-	NC_000015.10:g.27990601A>C	TOPMed
COSM4859259	p.Ala365Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27990599C>A	NCI-TCGA Cosmic
rs562134779	p.Ala366Gly	missense variant	-	NC_000015.10:g.27990595G>C	1000Genomes
NCI-TCGA novel	p.Ala366Glu	missense variant	-	NC_000015.10:g.27990595G>T	NCI-TCGA
NCI-TCGA novel	p.Ala366Ser	missense variant	-	NC_000015.10:g.27990596C>A	NCI-TCGA
NCI-TCGA novel	p.Ala366Thr	missense variant	-	NC_000015.10:g.27990596C>T	NCI-TCGA
RCV000442309	p.Ala368Val	missense variant	-	NC_000015.10:g.27990589G>A	ClinVar
rs61745150	p.Ala368Val	missense variant	-	NC_000015.10:g.27990589G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs61745150	p.Ala368Val	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27990589G>A	UniProt,dbSNP
VAR_006124	p.Ala368Val	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27990589G>A	UniProt
rs34731820	p.Ile370Thr	missense variant	-	NC_000015.10:g.27990583A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs34731820	p.Ile370Thr	missense variant	-	NC_000015.10:g.27990583A>G	UniProt,dbSNP
VAR_020628	p.Ile370Thr	missense variant	-	NC_000015.10:g.27990583A>G	UniProt
RCV000778423	p.Ile370Thr	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27990583A>G	ClinVar
RCV000766740	p.Ile370Thr	missense variant	-	NC_000015.10:g.27990583A>G	ClinVar
rs370353320	p.Asp372Asn	missense variant	-	NC_000015.10:g.27990578C>T	ESP,ExAC,TOPMed,gnomAD
rs1444457881	p.Arg373Ile	missense variant	-	NC_000015.10:g.27989665C>A	TOPMed
rs1444457881	p.Arg373Ile	missense variant	-	NC_000015.10:g.27989665C>A	NCI-TCGA Cosmic
rs1467022914	p.Leu376Val	missense variant	-	NC_000015.10:g.27989657G>C	gnomAD
rs758047811	p.Thr377Ser	missense variant	-	NC_000015.10:g.27989654T>A	ExAC,gnomAD
rs752317540	p.His378Gln	missense variant	-	NC_000015.10:g.27989649A>C	ExAC,TOPMed,gnomAD
rs1464056529	p.Val379Met	missense variant	-	NC_000015.10:g.27989648C>T	NCI-TCGA Cosmic
rs1464056529	p.Val379Met	missense variant	-	NC_000015.10:g.27989648C>T	gnomAD
NCI-TCGA novel	p.Val379Ala	missense variant	-	NC_000015.10:g.27989647A>G	NCI-TCGA
rs41529845	p.Val380Leu	missense variant	-	NC_000015.10:g.27989645C>G	ESP,ExAC,TOPMed,gnomAD
rs41529845	p.Val380Met	missense variant	-	NC_000015.10:g.27989645C>T	ESP,ExAC,TOPMed,gnomAD
rs1322187908	p.Ile383Val	missense variant	-	NC_000015.10:g.27989636T>C	TOPMed
rs1477461829	p.Ile383Thr	missense variant	-	NC_000015.10:g.27989635A>G	gnomAD
rs766300008	p.Asp384Gly	missense variant	-	NC_000015.10:g.27989632T>C	ExAC,gnomAD
rs1365451718	p.Asp384Asn	missense variant	-	NC_000015.10:g.27989633C>T	TOPMed
RCV000192434	p.Phe385Ile	missense variant	-	NC_000015.10:g.27989630A>T	ClinVar
rs137956605	p.Phe385Ile	missense variant	-	NC_000015.10:g.27989630A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000732449	p.Phe385Ile	missense variant	-	NC_000015.10:g.27989630A>T	ClinVar
rs150335311	p.Thr387Met	missense variant	-	NC_000015.10:g.27989623G>A	UniProt,dbSNP
VAR_020629	p.Thr387Met	missense variant	-	NC_000015.10:g.27989623G>A	UniProt
rs150335311	p.Thr387Met	missense variant	-	NC_000015.10:g.27989623G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs774722293	p.Leu391Pro	missense variant	-	NC_000015.10:g.27989611A>G	ExAC,gnomAD
rs1276381840	p.Phe392Leu	missense variant	-	NC_000015.10:g.27989609A>G	gnomAD
COSM4860100	p.Gly393Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27989606C>A	NCI-TCGA Cosmic
rs1343090538	p.Gly393Ser	missense variant	-	NC_000015.10:g.27989606C>T	gnomAD
rs749661379	p.Gly393Val	missense variant	-	NC_000015.10:g.27989605C>A	ExAC,TOPMed,gnomAD
RCV000001016	p.Met394Ile	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27989601C>T	ClinVar
rs121918171	p.Met394Ile	missense variant	-	NC_000015.10:g.27989601C>T	ExAC,gnomAD
rs121918171	p.Met394Ile	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27989601C>T	UniProt,dbSNP
VAR_020630	p.Met394Ile	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27989601C>T	UniProt
rs757286784	p.Met395Leu	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27986643T>G	UniProt,dbSNP
VAR_006126	p.Met395Leu	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27986643T>G	UniProt
rs757286784	p.Met395Leu	missense variant	-	NC_000015.10:g.27986643T>G	ExAC,TOPMed,gnomAD
RCV000174230	p.Met395Leu	missense variant	-	NC_000015.10:g.27986643T>G	ClinVar
rs1224081286	p.Met395Ile	missense variant	-	NC_000015.10:g.27986641C>A	gnomAD
rs913972182	p.Met395Thr	missense variant	-	NC_000015.10:g.27986642A>G	TOPMed,gnomAD
rs751659462	p.Ile396Met	missense variant	-	NC_000015.10:g.27986638G>C	ExAC,gnomAD
rs1323229424	p.Ile396Phe	missense variant	-	NC_000015.10:g.27986640T>A	gnomAD
rs1353549001	p.Leu397Ser	missense variant	-	NC_000015.10:g.27986636A>G	gnomAD
rs764323487	p.Leu397Phe	missense variant	-	NC_000015.10:g.27986635T>A	ExAC
rs75208498	p.Val398Ile	missense variant	-	NC_000015.10:g.27986634C>T	ExAC,gnomAD
rs75208498	p.Val398Leu	missense variant	-	NC_000015.10:g.27986634C>A	ExAC,gnomAD
rs1233256286	p.Val398Ala	missense variant	-	NC_000015.10:g.27986633A>G	TOPMed
rs1400121712	p.Ala399Thr	missense variant	-	NC_000015.10:g.27986631C>T	gnomAD
rs1295906290	p.Ile400Met	missense variant	-	NC_000015.10:g.27986626T>C	gnomAD
rs138440818	p.Ile400Val	missense variant	-	NC_000015.10:g.27986628T>C	ESP,ExAC,gnomAD
rs145880356	p.Phe401Leu	missense variant	-	NC_000015.10:g.27986625A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe401Ser	missense variant	-	NC_000015.10:g.27986624A>G	NCI-TCGA
rs777116832	p.Ser402Leu	missense variant	-	NC_000015.10:g.27986621G>A	ExAC,gnomAD
rs140703213	p.Glu403Lys	missense variant	-	NC_000015.10:g.27986619C>T	ESP,TOPMed,gnomAD
COSM6141942	p.Glu403Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27986619C>G	NCI-TCGA Cosmic
rs771308386	p.Glu403Gly	missense variant	-	NC_000015.10:g.27986618T>C	ExAC,gnomAD
RCV000193262	p.Thr404Met	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27986615G>A	ClinVar
rs144812594	p.Thr404Met	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27986615G>A	UniProt,dbSNP
VAR_006127	p.Thr404Met	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27986615G>A	UniProt
rs144812594	p.Thr404Met	missense variant	-	NC_000015.10:g.27986615G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000413048	p.Thr404Met	missense variant	-	NC_000015.10:g.27986615G>A	ClinVar
RCV000755087	p.Thr404Met	missense variant	Nonsyndromic Oculocutaneous Albinism	NC_000015.10:g.27986615G>A	ClinVar
rs144812594	p.Thr404Met	missense variant	-	NC_000015.10:g.27986615G>A	NCI-TCGA,NCI-TCGA Cosmic
rs768185678	p.Gly405Arg	missense variant	-	NC_000015.10:g.27986613C>T	ExAC,TOPMed,gnomAD
rs1261144207	p.Gly405Ala	missense variant	-	NC_000015.10:g.27986612C>G	gnomAD
rs1193068751	p.Phe407Cys	missense variant	-	NC_000015.10:g.27986606A>C	gnomAD
rs1220615392	p.Asp408Val	missense variant	-	NC_000015.10:g.27986603T>A	gnomAD
rs769550106	p.Asp408Asn	missense variant	-	NC_000015.10:g.27986604C>T	ExAC,TOPMed,gnomAD
rs769550106	p.Asp408Tyr	missense variant	-	NC_000015.10:g.27986604C>A	ExAC,TOPMed,gnomAD
RCV000174233	p.Tyr409Cys	missense variant	-	NC_000015.10:g.27986600T>C	ClinVar
rs376863406	p.Tyr409Cys	missense variant	-	NC_000015.10:g.27986600T>C	ESP,ExAC,TOPMed,gnomAD
COSM1301007	p.Cys410Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27986598A>G	NCI-TCGA Cosmic
rs1219194521	p.Cys410Tyr	missense variant	-	NC_000015.10:g.27986597C>T	gnomAD
rs1454791644	p.Ala411Asp	missense variant	-	NC_000015.10:g.27986594G>T	TOPMed
rs1454791644	p.Ala411Asp	missense variant	-	NC_000015.10:g.27986594G>T	NCI-TCGA Cosmic
COSM4860334	p.Val412Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27986591A>T	NCI-TCGA Cosmic
rs373759416	p.Val412Ile	missense variant	-	NC_000015.10:g.27986592C>T	ESP,ExAC,TOPMed,gnomAD
rs1179079179	p.Tyr415Asn	missense variant	-	NC_000015.10:g.27985185A>T	TOPMed,gnomAD
rs1179079179	p.Tyr415His	missense variant	-	NC_000015.10:g.27985185A>G	TOPMed,gnomAD
rs750843354	p.Arg416Gln	missense variant	-	NC_000015.10:g.27985181C>T	ExAC,TOPMed,gnomAD
COSM4858984	p.Arg416Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27985182G>C	NCI-TCGA Cosmic
rs756482913	p.Arg416Trp	missense variant	-	NC_000015.10:g.27985182G>A	ExAC,gnomAD
rs1202132050	p.Leu417Ile	missense variant	-	NC_000015.10:g.27985179G>T	gnomAD
rs1022437524	p.Ser418Tyr	missense variant	-	NC_000015.10:g.27985175G>T	TOPMed
rs1800407	p.Arg419Gln	missense variant	Skin/hair/eye pigmentation, variation in, 1 (shep1)	NC_000015.10:g.27985172C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143218168	p.Arg419Gly	missense variant	-	NC_000015.10:g.27985173G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143218168	p.Arg419Trp	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27985173G>A	UniProt,dbSNP
VAR_006129	p.Arg419Trp	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27985173G>A	UniProt
rs143218168	p.Arg419Trp	missense variant	-	NC_000015.10:g.27985173G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000174460	p.Arg419Trp	missense variant	-	NC_000015.10:g.27985173G>A	ClinVar
RCV000397427	p.Arg419Gln	missense variant	Oculocutaneous albinism	NC_000015.10:g.27985172C>T	ClinVar
rs372899234	p.Arg421Trp	missense variant	-	NC_000015.10:g.27985167G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369322694	p.Arg421Gln	missense variant	-	NC_000015.10:g.27985166C>T	ESP,ExAC,TOPMed,gnomAD
rs372899234	p.Arg421Trp	missense variant	-	NC_000015.10:g.27985167G>A	NCI-TCGA,NCI-TCGA Cosmic
rs759074829	p.Val422Ala	missense variant	-	NC_000015.10:g.27985163A>G	ExAC,gnomAD
rs1397133196	p.Trp423Ter	stop gained	-	NC_000015.10:g.27985159C>T	gnomAD
rs1397133196	p.Trp423Ter	stop gained	-	NC_000015.10:g.27985159C>T	NCI-TCGA Cosmic
rs776354621	p.Trp423Ter	stop gained	-	NC_000015.10:g.27985160C>T	ExAC,gnomAD
rs1401500525	p.Ala424Thr	missense variant	-	NC_000015.10:g.27985158C>T	gnomAD
rs201484597	p.Met425Leu	missense variant	-	NC_000015.10:g.27985155T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs374919133	p.Met425Ile	missense variant	-	NC_000015.10:g.27985153C>T	ESP,ExAC,TOPMed,gnomAD
rs201484597	p.Met425Val	missense variant	-	NC_000015.10:g.27985155T>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Met425Leu	missense variant	-	NC_000015.10:g.27985155T>A	NCI-TCGA
NCI-TCGA novel	p.Met425Ile	missense variant	-	NC_000015.10:g.27985153C>G	NCI-TCGA
VAR_006130	p.Met425del	inframe_deletion	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]	-	UniProt
rs145247627	p.Ile426Thr	missense variant	-	NC_000015.10:g.27985151A>G	ESP,ExAC,TOPMed,gnomAD
rs748135162	p.Met428Val	missense variant	-	NC_000015.10:g.27985146T>C	ExAC,gnomAD
rs778818617	p.Cys430Arg	missense variant	-	NC_000015.10:g.27985140A>G	ExAC,gnomAD
rs1189453897	p.Cys430Phe	missense variant	-	NC_000015.10:g.27985139C>A	gnomAD
NCI-TCGA novel	p.Cys430Ser	missense variant	-	NC_000015.10:g.27985139C>G	NCI-TCGA
rs1379621042	p.Leu431Val	missense variant	-	NC_000015.10:g.27985137G>C	TOPMed
rs749410903	p.Ala433Thr	missense variant	-	NC_000015.10:g.27985131C>T	ExAC,TOPMed,gnomAD
rs780239785	p.Ala433Val	missense variant	-	NC_000015.10:g.27985130G>A	ExAC,TOPMed,gnomAD
rs749410903	p.Ala433Thr	missense variant	-	NC_000015.10:g.27985131C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1215470680	p.Ala434Ser	missense variant	-	NC_000015.10:g.27985128C>A	TOPMed,gnomAD
rs750755829	p.Ala434Val	missense variant	-	NC_000015.10:g.27985127G>A	ExAC,gnomAD
rs1215470680	p.Ala434Thr	missense variant	-	NC_000015.10:g.27985128C>T	TOPMed,gnomAD
rs549399707	p.Val435Ile	missense variant	-	NC_000015.10:g.27985125C>T	ExAC,TOPMed,gnomAD
RCV000341602	p.Val435Ile	missense variant	Oculocutaneous albinism	NC_000015.10:g.27985125C>T	ClinVar
COSM6076983	p.Val435Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27985125C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser437Cys	missense variant	-	NC_000015.10:g.27985118G>C	NCI-TCGA
rs764588411	p.Phe439Leu	missense variant	-	NC_000015.10:g.27985111G>C	ExAC,gnomAD
rs1291485093	p.Phe439Ser	missense variant	-	NC_000015.10:g.27985112A>G	gnomAD
RCV000766763	p.Leu440Phe	missense variant	-	NC_000015.10:g.27985108C>G	ClinVar
rs1800408	p.Leu440Phe	missense variant	-	NC_000015.10:g.27985108C>G	ESP,ExAC,TOPMed,gnomAD
VAR_006131	p.Leu440His	Missense	-	-	UniProt
rs147816326	p.Asp441Gly	missense variant	-	NC_000015.10:g.27985106T>C	ESP,ExAC,TOPMed,gnomAD
RCV000755088	p.Asp441Gly	missense variant	Nonsyndromic Oculocutaneous Albinism	NC_000015.10:g.27985106T>C	ClinVar
rs121918166	p.Val443Ile	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27985101C>T	UniProt,dbSNP
VAR_006132	p.Val443Ile	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27985101C>T	UniProt
rs121918166	p.Val443Ile	missense variant	-	NC_000015.10:g.27985101C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1325388159	p.Val443Ala	missense variant	-	NC_000015.10:g.27985100A>G	gnomAD
RCV000001006	p.Val443Ile	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27985101C>T	ClinVar
RCV000623104	p.Val443Ile	missense variant	Inborn genetic diseases	NC_000015.10:g.27985101C>T	ClinVar
RCV000477815	p.Val443Ile	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27985101C>T	ClinVar
RCV000310636	p.Val443Ile	missense variant	-	NC_000015.10:g.27985101C>T	ClinVar
NCI-TCGA novel	p.Thr445Ile	missense variant	-	NC_000015.10:g.27985094G>A	NCI-TCGA
rs1185751753	p.Met446Thr	missense variant	-	NC_000015.10:g.27985091A>G	TOPMed,gnomAD
rs140566426	p.Met446Val	missense variant	-	NC_000015.10:g.27985092T>C	ESP,ExAC,TOPMed,gnomAD
rs1289790604	p.Leu447Phe	missense variant	-	NC_000015.10:g.27985089G>A	gnomAD
rs772019064	p.Thr450Met	missense variant	-	NC_000015.10:g.27985079G>A	NCI-TCGA,NCI-TCGA Cosmic
COSM1493409	p.Thr450Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27985079G>T	NCI-TCGA Cosmic
rs1478488720	p.Thr450Ala	missense variant	-	NC_000015.10:g.27985080T>C	gnomAD
rs772019064	p.Thr450Met	missense variant	-	NC_000015.10:g.27985079G>A	ExAC,TOPMed,gnomAD
rs886051024	p.Pro451His	missense variant	-	NC_000015.10:g.27985076G>T	-
RCV000340647	p.Pro451His	missense variant	Oculocutaneous albinism	NC_000015.10:g.27985076G>T	ClinVar
rs1444988470	p.Val452Met	missense variant	-	NC_000015.10:g.27985074C>T	gnomAD
rs574602845	p.Ile454Thr	missense variant	-	NC_000015.10:g.27985067A>G	1000Genomes,ExAC,gnomAD
RCV000778422	p.Arg455Gly	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27985065T>C	ClinVar
rs139853866	p.Arg455Lys	missense variant	-	NC_000015.10:g.27985064C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs778045887	p.Arg455Ser	missense variant	-	NC_000015.10:g.27983483C>A	ExAC,gnomAD
rs200764804	p.Arg455Gly	missense variant	-	NC_000015.10:g.27985065T>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000325523	p.Cys457Phe	missense variant	Oculocutaneous albinism	NC_000015.10:g.27983478C>A	ClinVar
rs886051023	p.Cys457Ser	missense variant	-	NC_000015.10:g.27983478C>G	TOPMed
rs886051023	p.Cys457Phe	missense variant	-	NC_000015.10:g.27983478C>A	TOPMed
rs779636188	p.Leu460Arg	missense variant	-	NC_000015.10:g.27983469A>C	ExAC,gnomAD
rs748692597	p.Leu460Val	missense variant	-	NC_000015.10:g.27983470G>C	ExAC,TOPMed,gnomAD
rs748692597	p.Leu460Phe	missense variant	-	NC_000015.10:g.27983470G>A	ExAC,TOPMed,gnomAD
rs547514436	p.Asn461Ser	missense variant	-	NC_000015.10:g.27983466T>C	1000Genomes,ExAC,gnomAD
rs1463949850	p.Asp463Asn	missense variant	-	NC_000015.10:g.27983461C>T	TOPMed
COSM4873674	p.Pro464Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27983457G>A	NCI-TCGA Cosmic
rs1346058725	p.Arg465Gly	missense variant	-	NC_000015.10:g.27983455T>C	gnomAD
rs750011165	p.Val467Ile	missense variant	-	NC_000015.10:g.27983449C>T	ExAC,gnomAD
rs756898802	p.Ala470Glu	missense variant	-	NC_000015.10:g.27983439G>T	ExAC,TOPMed,gnomAD
rs756898802	p.Ala470Val	missense variant	-	NC_000015.10:g.27983439G>A	ExAC,TOPMed,gnomAD
COSM4053793	p.Glu471Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27983435T>G	NCI-TCGA Cosmic
rs751347619	p.Val472Leu	missense variant	-	NC_000015.10:g.27983434C>A	ExAC,gnomAD
VAR_006134	p.Ile473Ser	Missense	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]	-	UniProt
COSM4053791	p.Phe474Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27983428A>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Phe474SerPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.27983427A>-	NCI-TCGA
RCV000192364	p.Asn476Ser	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27983421T>C	ClinVar
rs763819379	p.Asn476Ser	missense variant	-	NC_000015.10:g.27983421T>C	ExAC
VAR_043700	p.Asn476Asp	Missense	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]	-	UniProt
rs1050639691	p.Ile477Val	missense variant	-	NC_000015.10:g.27983419T>C	TOPMed
rs148413474	p.Ile477Thr	missense variant	-	NC_000015.10:g.27983418A>G	ESP,ExAC,TOPMed,gnomAD
rs775410609	p.Ile477Met	missense variant	-	NC_000015.10:g.27983417A>C	ExAC,gnomAD
rs765246177	p.Ala480Pro	missense variant	-	NC_000015.10:g.27983410C>G	ExAC,gnomAD
rs74653330	p.Ala481Thr	missense variant	-	NC_000015.10:g.27983407C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs74653330	p.Ala481Thr	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27983407C>T	UniProt,dbSNP
VAR_007940	p.Ala481Thr	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27983407C>T	UniProt
RCV000001005	p.Ala481Thr	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27983407C>T	ClinVar
COSM71915	p.Thr482Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27983403G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr482Pro	missense variant	-	NC_000015.10:g.27983404T>G	NCI-TCGA
rs776760943	p.Ile484Val	missense variant	-	NC_000015.10:g.27983398T>C	ExAC,gnomAD
rs747214535	p.Gly485Arg	missense variant	-	NC_000015.10:g.27983395C>T	NCI-TCGA,NCI-TCGA Cosmic
RCV000270433	p.Gly485Arg	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27983395C>T	ClinVar
rs747214535	p.Gly485Arg	missense variant	-	NC_000015.10:g.27983395C>T	ExAC,TOPMed,gnomAD
rs772324459	p.Asp486Asn	missense variant	-	NC_000015.10:g.27983392C>T	ExAC,gnomAD
rs748606976	p.Asp486Gly	missense variant	-	NC_000015.10:g.27983391T>C	ExAC,gnomAD
RCV000755089	p.Asp486Tyr	missense variant	Nonsyndromic Oculocutaneous Albinism	NC_000015.10:g.27983392C>A	ClinVar
rs772324459	p.Asp486Tyr	missense variant	-	NC_000015.10:g.27983392C>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp486ThrPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.27983392C>-	NCI-TCGA
RCV000513084	p.Asn489Tyr	missense variant	-	NC_000015.10:g.27983383T>A	ClinVar
RCV000413429	p.Asn489Asp	missense variant	-	NC_000015.10:g.27983383T>C	ClinVar
rs121918170	p.Asn489Asp	missense variant	-	NC_000015.10:g.27983383T>C	ESP,ExAC,TOPMed,gnomAD
rs121918170	p.Asn489Tyr	missense variant	-	NC_000015.10:g.27983383T>A	ESP,ExAC,TOPMed,gnomAD
RCV000001012	p.Asn489Asp	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27983383T>C	ClinVar
RCV000762940	p.Asn489Asp	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27983383T>C	ClinVar
rs121918170	p.Asn489Asp	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27983383T>C	UniProt,dbSNP
VAR_006135	p.Asn489Asp	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27983383T>C	UniProt
rs1217644417	p.Val490Ile	missense variant	-	NC_000015.10:g.27983380C>T	gnomAD
rs1252025821	p.Ile491Phe	missense variant	-	NC_000015.10:g.27983377T>A	TOPMed
NCI-TCGA novel	p.Val493Ile	missense variant	-	NC_000015.10:g.27983371C>T	NCI-TCGA
rs370239668	p.Ser494Phe	missense variant	-	NC_000015.10:g.27983367G>A	ESP,TOPMed
rs756887531	p.Asn495Lys	missense variant	-	NC_000015.10:g.27983363G>T	ExAC,gnomAD
rs202126510	p.Asn495Asp	missense variant	-	NC_000015.10:g.27983365T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs531606889	p.Asn495Ile	missense variant	-	NC_000015.10:g.27983364T>A	1000Genomes,ExAC,gnomAD
rs141015793	p.Glu497Asp	missense variant	-	NC_000015.10:g.27983357C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs763883728	p.Arg499Met	missense variant	-	NC_000015.10:g.27983352C>A	ExAC,gnomAD
rs1353048090	p.Lys500Met	missense variant	-	NC_000015.10:g.27983349T>A	gnomAD
rs1419933291	p.Met501Thr	missense variant	-	NC_000015.10:g.27983346A>G	gnomAD
rs1299589816	p.Met501Leu	missense variant	-	NC_000015.10:g.27983347T>A	gnomAD
NCI-TCGA novel	p.Gly502Ser	missense variant	-	NC_000015.10:g.27966822C>T	NCI-TCGA
rs1467127734	p.Leu503Pro	missense variant	-	NC_000015.10:g.27966818A>G	gnomAD
rs754867134	p.Phe505Val	missense variant	-	NC_000015.10:g.27966813A>C	ExAC,gnomAD
rs753721437	p.Phe505Ser	missense variant	-	NC_000015.10:g.27966812A>G	ExAC,TOPMed,gnomAD
COSM4863248	p.Ala506Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27966810C>A	NCI-TCGA Cosmic
rs1006252326	p.Ala506Thr	missense variant	-	NC_000015.10:g.27966810C>T	gnomAD
rs138606284	p.Gly507Arg	missense variant	-	NC_000015.10:g.27966807C>T	ESP,ExAC,TOPMed,gnomAD
rs138606284	p.Gly507Arg	missense variant	-	NC_000015.10:g.27966807C>T	NCI-TCGA
rs926792583	p.Thr509Ala	missense variant	-	NC_000015.10:g.27966801T>C	TOPMed
rs201590781	p.Ala510Thr	missense variant	-	NC_000015.10:g.27966798C>T	ESP,ExAC,TOPMed,gnomAD
rs1271022101	p.His511Leu	missense variant	-	NC_000015.10:g.27966794T>A	TOPMed
rs1229938803	p.His511Asp	missense variant	-	NC_000015.10:g.27966795G>C	TOPMed
rs1439320132	p.Met512Leu	missense variant	-	NC_000015.10:g.27966792T>A	gnomAD
rs762173959	p.Met512Ile	missense variant	-	NC_000015.10:g.27966790C>T	ExAC,gnomAD
rs949612687	p.Phe513Leu	missense variant	-	NC_000015.10:g.27966789A>G	TOPMed
rs1299274596	p.Phe513Leu	missense variant	-	NC_000015.10:g.27966787G>C	gnomAD
rs142152913	p.Ile514Ser	missense variant	-	NC_000015.10:g.27966785A>C	ESP,ExAC,TOPMed,gnomAD
rs1220736811	p.Ile514Val	missense variant	-	NC_000015.10:g.27966786T>C	TOPMed
rs142152913	p.Ile514Thr	missense variant	-	NC_000015.10:g.27966785A>G	ESP,ExAC,TOPMed,gnomAD
COSM6076985	p.Cys517Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27966777A>T	NCI-TCGA Cosmic
rs886051021	p.Leu518His	missense variant	-	NC_000015.10:g.27966773A>T	-
NCI-TCGA novel	p.Leu518Phe	missense variant	-	NC_000015.10:g.27966774G>A	NCI-TCGA
RCV000274083	p.Leu518His	missense variant	Oculocutaneous albinism	NC_000015.10:g.27966773A>T	ClinVar
rs41446944	p.Val519Ala	missense variant	-	NC_000015.10:g.27966770A>G	ESP,TOPMed,gnomAD
rs41446944	p.Val519Ala	missense variant	-	NC_000015.10:g.27966770A>G	UniProt,dbSNP
VAR_032096	p.Val519Ala	missense variant	-	NC_000015.10:g.27966770A>G	UniProt
NCI-TCGA novel	p.Leu520Phe	missense variant	-	NC_000015.10:g.27966768G>A	NCI-TCGA
NCI-TCGA novel	p.Leu521Gln	missense variant	-	NC_000015.10:g.27966764A>T	NCI-TCGA
rs771694173	p.Val522Phe	missense variant	-	NC_000015.10:g.27966762C>A	ExAC,gnomAD
rs778609798	p.Cys523Ser	missense variant	-	NC_000015.10:g.27966758C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe524Leu	missense variant	-	NC_000015.10:g.27966754A>T	NCI-TCGA
rs754777148	p.Pro525Leu	missense variant	-	NC_000015.10:g.27966752G>A	ExAC,gnomAD
rs754777148	p.Pro525Leu	missense variant	-	NC_000015.10:g.27966752G>A	NCI-TCGA,NCI-TCGA Cosmic
RCV000520131	p.Pro525Leu	missense variant	-	NC_000015.10:g.27966752G>A	ClinVar
rs925564947	p.Leu526Phe	missense variant	-	NC_000015.10:g.27966750G>A	TOPMed
rs779850564	p.Leu527Arg	missense variant	-	NC_000015.10:g.27966746A>C	ExAC,gnomAD
rs756116239	p.Leu529Phe	missense variant	-	NC_000015.10:g.27966741G>A	ExAC
NCI-TCGA novel	p.Leu530Phe	missense variant	-	NC_000015.10:g.27966738G>A	NCI-TCGA
rs143699063	p.Tyr531Cys	missense variant	-	NC_000015.10:g.27966734T>C	ESP,ExAC,TOPMed,gnomAD
COSM6076987	p.Trp532Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27966732A>T	NCI-TCGA Cosmic
rs767726046	p.Trp532Arg	missense variant	-	NC_000015.10:g.27966732A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp532Cys	missense variant	-	NC_000015.10:g.27966730C>A	NCI-TCGA
rs1232501960	p.Asn533Ser	missense variant	-	NC_000015.10:g.27966728T>C	gnomAD
rs757516465	p.Arg534Gly	missense variant	-	NC_000015.10:g.27966726T>C	ExAC,gnomAD
rs910200898	p.Lys535Arg	missense variant	-	NC_000015.10:g.27966722T>C	gnomAD
rs1394413927	p.Leu536Val	missense variant	-	NC_000015.10:g.27966720G>C	gnomAD
NCI-TCGA novel	p.Leu536Ile	missense variant	-	NC_000015.10:g.27966720G>T	NCI-TCGA
rs1304719929	p.Asn538Asp	missense variant	-	NC_000015.10:g.27966714T>C	gnomAD
rs1435546245	p.Lys539Glu	missense variant	-	NC_000015.10:g.27966711T>C	gnomAD
rs763215605	p.Ser542Thr	missense variant	-	NC_000015.10:g.27966701C>G	ExAC
rs34141095	p.Ile544Thr	missense variant	-	NC_000015.10:g.27966695A>G	ESP,ExAC,TOPMed,gnomAD
rs1172037395	p.Ile544Val	missense variant	-	NC_000015.10:g.27966696T>C	gnomAD
NCI-TCGA novel	p.Ile544Ser	missense variant	-	NC_000015.10:g.27966695A>C	NCI-TCGA
rs1381951592	p.Val545Phe	missense variant	-	NC_000015.10:g.27966693C>A	gnomAD
COSM6076989	p.Lys548Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27957728C>A	NCI-TCGA Cosmic
COSM4859536	p.His549Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27957725G>T	NCI-TCGA Cosmic
VAR_006136	p.His549Gln	Missense	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]	-	UniProt
NCI-TCGA novel	p.Glu550Lys	missense variant	-	NC_000015.10:g.27957724C>T	NCI-TCGA
COSM2149067	p.Val553Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27957715C>G	NCI-TCGA Cosmic
rs552418165	p.Val553Ile	missense variant	-	NC_000015.10:g.27957715C>T	ExAC,TOPMed,gnomAD
rs552418165	p.Val553Ile	missense variant	-	NC_000015.10:g.27957715C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1384042381	p.Trp554Arg	missense variant	-	NC_000015.10:g.27957712A>G	TOPMed
RCV000504873	p.Trp554Arg	missense variant	Albinism	NC_000015.10:g.27957712A>G	ClinVar
NCI-TCGA novel	p.Trp554Cys	missense variant	-	NC_000015.10:g.27957710C>A	NCI-TCGA
rs768169106	p.Arg555His	missense variant	-	NC_000015.10:g.27957708C>T	NCI-TCGA,NCI-TCGA Cosmic
rs141611162	p.Arg555Gly	missense variant	-	NC_000015.10:g.27957709G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs768169106	p.Arg555His	missense variant	-	NC_000015.10:g.27957708C>T	ExAC,gnomAD
rs141611162	p.Arg555Cys	missense variant	-	NC_000015.10:g.27957709G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs775106432	p.Thr557Ser	missense variant	-	NC_000015.10:g.27957702G>C	ExAC,gnomAD
COSM4872886	p.Ala558Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27957699G>T	NCI-TCGA Cosmic
rs35110389	p.Arg560His	missense variant	-	NC_000015.10:g.27957693C>T	NCI-TCGA
rs147905292	p.Arg560Cys	missense variant	-	NC_000015.10:g.27957694G>A	NCI-TCGA,NCI-TCGA Cosmic
rs147905292	p.Arg560Gly	missense variant	-	NC_000015.10:g.27957694G>C	ESP,ExAC,TOPMed,gnomAD
rs35110389	p.Arg560His	missense variant	-	NC_000015.10:g.27957693C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147905292	p.Arg560Cys	missense variant	-	NC_000015.10:g.27957694G>A	ESP,ExAC,TOPMed,gnomAD
RCV000502777	p.Arg560His	missense variant	-	NC_000015.10:g.27957693C>T	ClinVar
NCI-TCGA novel	p.Arg560Leu	missense variant	-	NC_000015.10:g.27957693C>A	NCI-TCGA
rs1162229064	p.Ser562Asn	missense variant	-	NC_000015.10:g.27957687C>T	gnomAD
rs757332596	p.Ser562Gly	missense variant	-	NC_000015.10:g.27957688T>C	ExAC,gnomAD
rs757332596	p.Ser562Arg	missense variant	-	NC_000015.10:g.27957688T>G	ExAC,gnomAD
rs201904219	p.Pro563Arg	missense variant	-	NC_000015.10:g.27957684G>C	ExAC,TOPMed,gnomAD
rs201904219	p.Pro563Leu	missense variant	-	NC_000015.10:g.27957684G>A	ExAC,TOPMed,gnomAD
rs1192052771	p.Arg566Cys	missense variant	-	NC_000015.10:g.27957676G>A	NCI-TCGA Cosmic
COSM6030685	p.Arg566His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27957675C>T	NCI-TCGA Cosmic
rs1192052771	p.Arg566Cys	missense variant	-	NC_000015.10:g.27957676G>A	TOPMed,gnomAD
rs1192052771	p.Arg566Gly	missense variant	-	NC_000015.10:g.27957676G>C	TOPMed,gnomAD
RCV000779153	p.Glu567Ter	nonsense	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27957673C>A	ClinVar
rs779086242	p.Glu567Lys	missense variant	-	NC_000015.10:g.27957673C>T	ExAC,TOPMed,gnomAD
rs1214855230	p.Glu567Asp	missense variant	-	NC_000015.10:g.27957671C>G	gnomAD
rs779086242	p.Glu567Lys	missense variant	-	NC_000015.10:g.27957673C>T	NCI-TCGA
rs1468469473	p.Thr569Arg	missense variant	-	NC_000015.10:g.27957666G>C	gnomAD
rs754265614	p.Arg572Pro	missense variant	-	NC_000015.10:g.27957657C>G	ExAC,TOPMed,gnomAD
rs374415755	p.Arg572Cys	missense variant	-	NC_000015.10:g.27957658G>A	ESP,ExAC,TOPMed,gnomAD
rs754265614	p.Arg572His	missense variant	-	NC_000015.10:g.27957657C>T	ExAC,TOPMed,gnomAD
rs374415755	p.Arg572Cys	missense variant	-	NC_000015.10:g.27957658G>A	NCI-TCGA,NCI-TCGA Cosmic
rs754265614	p.Arg572Pro	missense variant	-	NC_000015.10:g.27957657C>G	NCI-TCGA
rs754265614	p.Arg572His	missense variant	-	NC_000015.10:g.27957657C>T	NCI-TCGA,NCI-TCGA Cosmic
rs140556122	p.Arg573Cys	missense variant	-	NC_000015.10:g.27957655G>A	NCI-TCGA,NCI-TCGA Cosmic
rs140556122	p.Arg573Cys	missense variant	-	NC_000015.10:g.27957655G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761217860	p.Arg573His	missense variant	-	NC_000015.10:g.27957654C>T	ExAC,gnomAD
rs1225525689	p.Leu576Pro	missense variant	-	NC_000015.10:g.27957645A>G	gnomAD
COSM3500259	p.Gly577Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27957642C>A	NCI-TCGA Cosmic
rs1462263661	p.Val579Met	missense variant	-	NC_000015.10:g.27957637C>T	TOPMed
rs1324465727	p.Leu580Val	missense variant	-	NC_000015.10:g.27957634G>C	gnomAD
rs1393692689	p.Leu582Pro	missense variant	-	NC_000015.10:g.27957627A>G	gnomAD
rs1160107047	p.Glu583Lys	missense variant	-	NC_000015.10:g.27957625C>T	TOPMed
rs1160107047	p.Glu583Gln	missense variant	-	NC_000015.10:g.27957625C>G	TOPMed
rs762447373	p.His584Asn	missense variant	-	NC_000015.10:g.27957622G>T	ExAC,gnomAD
COSM4832700	p.Leu586Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27957616G>T	NCI-TCGA Cosmic
rs918693810	p.Leu586Phe	missense variant	-	NC_000015.10:g.27957616G>A	TOPMed
rs759401481	p.Ala587Thr	missense variant	-	NC_000015.10:g.27957613C>T	NCI-TCGA
rs759401481	p.Ala587Thr	missense variant	-	NC_000015.10:g.27957613C>T	ExAC,TOPMed,gnomAD
rs150711896	p.Arg588Trp	missense variant	-	NC_000015.10:g.27957610G>A	NCI-TCGA
rs746969709	p.Arg588Pro	missense variant	-	NC_000015.10:g.27957609C>G	ExAC,gnomAD
rs746969709	p.Arg588Gln	missense variant	-	NC_000015.10:g.27957609C>T	ExAC,gnomAD
rs150711896	p.Arg588Trp	missense variant	-	NC_000015.10:g.27957610G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1251628913	p.Arg589Trp	missense variant	-	NC_000015.10:g.27957607T>A	gnomAD
rs1194285211	p.Arg595Gly	missense variant	-	NC_000015.10:g.27957589T>C	gnomAD
rs141159640	p.Arg595Ser	missense variant	-	NC_000015.10:g.27955215T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1161799204	p.Ile597Thr	missense variant	-	NC_000015.10:g.27955210A>G	gnomAD
rs1157360128	p.Asn603Ile	missense variant	-	NC_000015.10:g.27955192T>A	gnomAD
rs1407839994	p.Asn603Asp	missense variant	-	NC_000015.10:g.27955193T>C	gnomAD
rs752232419	p.Trp604Ter	stop gained	-	NC_000015.10:g.27955189C>T	ExAC,gnomAD
rs764677895	p.Glu605Gln	missense variant	-	NC_000015.10:g.27955187C>G	ExAC,gnomAD
rs1440067006	p.Thr606Ile	missense variant	-	NC_000015.10:g.27955183G>A	TOPMed,gnomAD
rs952383990	p.Asn607Asp	missense variant	-	NC_000015.10:g.27955181T>C	TOPMed
NCI-TCGA novel	p.Gln609ProPheSerTerUnk	frameshift	-	NC_000015.10:g.27955176_27955177insT	NCI-TCGA
COSM4053786	p.Glu610Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.27955172C>A	NCI-TCGA Cosmic
rs766188851	p.Leu611Pro	missense variant	-	NC_000015.10:g.27955168A>G	ExAC,gnomAD
rs753549210	p.Leu611Val	missense variant	-	NC_000015.10:g.27955169G>C	ExAC,gnomAD
rs370760182	p.Lys613Arg	missense variant	-	NC_000015.10:g.27955162T>C	ESP,ExAC,TOPMed,gnomAD
rs772917829	p.Lys614Arg	missense variant	-	NC_000015.10:g.27955159T>C	ExAC,gnomAD
COSM1372216	p.Lys614SerPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.27955159T>-	NCI-TCGA Cosmic
VAR_020631	p.Lys614Glu	Missense	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]	-	UniProt
VAR_006138	p.Lys614Asn	Missense	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]	-	UniProt
rs1800414	p.His615Leu	missense variant	-	NC_000015.10:g.27951891T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1800414	p.His615Arg	missense variant	-	NC_000015.10:g.27951891T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755768280	p.His615Tyr	missense variant	-	NC_000015.10:g.27951892G>A	ExAC,TOPMed,gnomAD
RCV000259507	p.His615Arg	missense variant	Oculocutaneous albinism	NC_000015.10:g.27951891T>C	ClinVar
NCI-TCGA novel	p.His615AlaPheSerTerUnk	frameshift	-	NC_000015.10:g.27955158_27955159insT	NCI-TCGA
RCV000245098	p.His615Arg	missense variant	-	NC_000015.10:g.27951891T>C	ClinVar
rs199980244	p.Arg616Gly	missense variant	-	NC_000015.10:g.27951889T>C	ExAC,gnomAD
rs764077360	p.Arg616Ser	missense variant	-	NC_000015.10:g.27951887C>A	ExAC,TOPMed,gnomAD
rs763016773	p.Ile617Leu	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27951886T>A	UniProt,dbSNP
VAR_020632	p.Ile617Leu	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27951886T>A	UniProt
rs763016773	p.Ile617Leu	missense variant	-	NC_000015.10:g.27951886T>A	ExAC,TOPMed,gnomAD
rs775588367	p.Ile617Thr	missense variant	-	NC_000015.10:g.27951885A>G	ExAC,TOPMed,gnomAD
rs746102630	p.Gly620Arg	missense variant	-	NC_000015.10:g.27951877C>T	ExAC,gnomAD
rs1284013503	p.Leu623Pro	missense variant	-	NC_000015.10:g.27951867A>G	TOPMed,gnomAD
rs373739951	p.Ala624Thr	missense variant	-	NC_000015.10:g.27951865C>T	ESP,ExAC,TOPMed,gnomAD
rs1186490350	p.Ala624Val	missense variant	-	NC_000015.10:g.27951864G>A	gnomAD
rs1455447337	p.Lys625Asn	missense variant	-	NC_000015.10:g.27951860T>G	TOPMed,gnomAD
RCV000732984	p.Lys625Asn	missense variant	-	NC_000015.10:g.27951860T>G	ClinVar
NCI-TCGA novel	p.Thr628Ala	missense variant	-	NC_000015.10:g.27951853T>C	NCI-TCGA
COSM4858558	p.Leu630Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27951847A>C	NCI-TCGA Cosmic
rs748782525	p.Leu630Trp	missense variant	-	NC_000015.10:g.27951846A>C	ExAC,gnomAD
rs1204760169	p.Leu630Met	missense variant	-	NC_000015.10:g.27951847A>T	TOPMed,gnomAD
RCV000501001	p.Gly631Arg	missense variant	-	NC_000015.10:g.27951844C>T	ClinVar
rs946624305	p.Gly631Ala	missense variant	-	NC_000015.10:g.27951843C>G	TOPMed,gnomAD
rs1555440003	p.Gly631Arg	missense variant	-	NC_000015.10:g.27951844C>T	-
rs1372200062	p.Val633Ile	missense variant	-	NC_000015.10:g.27951838C>T	TOPMed,gnomAD
rs200692258	p.Ile634Thr	missense variant	-	NC_000015.10:g.27951834A>G	ESP,ExAC,TOPMed,gnomAD
COSM6076991	p.Ile634Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27951835T>A	NCI-TCGA Cosmic
rs200692258	p.Ile634Asn	missense variant	-	NC_000015.10:g.27951834A>T	ESP,ExAC,TOPMed,gnomAD
rs554843849	p.Phe635Leu	missense variant	-	NC_000015.10:g.27951832A>G	1000Genomes,ExAC,gnomAD
rs750047317	p.Met636Leu	missense variant	-	NC_000015.10:g.27951829T>G	ExAC,TOPMed,gnomAD
rs750047317	p.Met636Val	missense variant	-	NC_000015.10:g.27951829T>C	ExAC,TOPMed,gnomAD
rs1298872216	p.Phe637Leu	missense variant	-	NC_000015.10:g.27951826A>G	gnomAD
rs960692654	p.Leu639Arg	missense variant	-	NC_000015.10:g.27951819A>C	TOPMed
rs1035017790	p.Asn640Ser	missense variant	-	NC_000015.10:g.27951816T>C	TOPMed
RCV000755090	p.Ser641Leu	missense variant	Nonsyndromic Oculocutaneous Albinism	NC_000015.10:g.27951813G>A	ClinVar
rs868238523	p.Ser641Leu	missense variant	-	NC_000015.10:g.27951813G>A	gnomAD
rs868238523	p.Ser641Leu	missense variant	-	NC_000015.10:g.27951813G>A	NCI-TCGA Cosmic
COSM3500254	p.Pro644Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27951804G>A	NCI-TCGA Cosmic
rs751422581	p.Gly645Asp	missense variant	-	NC_000015.10:g.27951801C>T	ExAC,gnomAD
rs751422581	p.Gly645Asp	missense variant	-	NC_000015.10:g.27951801C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1252019812	p.Ile646Val	missense variant	-	NC_000015.10:g.27951799T>C	TOPMed,gnomAD
rs762928598	p.Asp649Val	missense variant	-	NC_000015.10:g.27951789T>A	ExAC,gnomAD
rs1480043322	p.Leu650Phe	missense variant	-	NC_000015.10:g.27951787G>A	gnomAD
RCV000293261	p.Trp652Arg	missense variant	-	NC_000015.10:g.27926252A>T	ClinVar
rs886043514	p.Trp652Arg	missense variant	-	NC_000015.10:g.27926252A>T	gnomAD
RCV000001008	p.Ala654Ter	frameshift	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27926246del	ClinVar
rs778788354	p.Ala654Pro	missense variant	-	NC_000015.10:g.27926246C>G	ExAC,TOPMed,gnomAD
rs1182502204	p.Ala654Val	missense variant	-	NC_000015.10:g.27926245G>A	TOPMed
rs778788354	p.Ala654Thr	missense variant	-	NC_000015.10:g.27926246C>T	ExAC,TOPMed,gnomAD
rs778788354	p.Ala654Thr	missense variant	-	NC_000015.10:g.27926246C>T	NCI-TCGA
rs186953916	p.Ile655Asn	missense variant	-	NC_000015.10:g.27926242A>T	1000Genomes,ExAC,gnomAD
rs879253729	p.Gly657Arg	missense variant	-	NC_000015.10:g.27926237C>G	-
rs957981838	p.Gly657Asp	missense variant	-	NC_000015.10:g.27926236C>T	TOPMed
rs957981838	p.Gly657Ala	missense variant	-	NC_000015.10:g.27926236C>G	TOPMed
RCV000234793	p.Gly657Arg	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27926237C>G	ClinVar
rs749249918	p.Ala658Val	missense variant	-	NC_000015.10:g.27926233G>A	ExAC,TOPMed,gnomAD
rs749249918	p.Ala658Gly	missense variant	-	NC_000015.10:g.27926233G>C	ExAC,TOPMed,gnomAD
RCV000761902	p.Trp660Cys	missense variant	-	NC_000015.10:g.27926226C>A	ClinVar
rs1429912526	p.Trp660Ser	missense variant	-	NC_000015.10:g.27926227C>G	TOPMed
rs1441627192	p.Leu664Phe	missense variant	-	NC_000015.10:g.27926214T>G	gnomAD
rs1461245685	p.Asp666Glu	missense variant	-	NC_000015.10:g.27926208A>C	TOPMed
rs779938295	p.Ile667Phe	missense variant	-	NC_000015.10:g.27926207T>A	ExAC,gnomAD
NCI-TCGA novel	p.His668Gln	missense variant	-	NC_000015.10:g.27926202A>T	NCI-TCGA
rs756248244	p.Asp669Tyr	missense variant	-	NC_000015.10:g.27926201C>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp669Asn	missense variant	-	NC_000015.10:g.27926201C>T	NCI-TCGA
RCV000194788	p.Glu671Val	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27926194T>A	ClinVar
rs797045838	p.Glu671Val	missense variant	-	NC_000015.10:g.27926194T>A	gnomAD
rs797045838	p.Glu671Gly	missense variant	-	NC_000015.10:g.27926194T>C	gnomAD
rs1428151996	p.Ile673Val	missense variant	-	NC_000015.10:g.27926189T>C	gnomAD
RCV000175395	p.Leu674Val	missense variant	-	NC_000015.10:g.27926186G>C	ClinVar
rs371412500	p.Leu674Val	missense variant	-	NC_000015.10:g.27926186G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs371412500	p.Leu674Ile	missense variant	-	NC_000015.10:g.27926186G>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM6076993	p.Arg676Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27926180T>C	NCI-TCGA Cosmic
VAR_020633	p.Glu678Lys	Missense	-	-	UniProt
rs121918169	p.Trp679Cys	missense variant	-	NC_000015.10:g.27926169C>G	ExAC,TOPMed,gnomAD
rs121918169	p.Trp679Cys	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27926169C>G	UniProt,dbSNP
VAR_020634	p.Trp679Cys	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27926169C>G	UniProt
rs751822606	p.Trp679Arg	missense variant	-	NC_000015.10:g.27926171A>G	ExAC,TOPMed,gnomAD
RCV000001011	p.Trp679Cys	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27926169C>G	ClinVar
rs1284426737	p.Leu682Pro	missense variant	-	NC_000015.10:g.27926161A>G	TOPMed
rs765794380	p.Leu683Pro	missense variant	-	NC_000015.10:g.27926158A>G	ExAC,gnomAD
rs760177484	p.Phe684Ile	missense variant	-	NC_000015.10:g.27926156A>T	ExAC
rs772754008	p.Phe684Cys	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27926155A>C	UniProt,dbSNP
VAR_072601	p.Phe684Cys	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27926155A>C	UniProt
rs772754008	p.Phe684Cys	missense variant	-	NC_000015.10:g.27926155A>C	ExAC,TOPMed,gnomAD
rs772754008	p.Phe684Ser	missense variant	-	NC_000015.10:g.27926155A>G	ExAC,TOPMed,gnomAD
RCV000496043	p.Phe685Ter	frameshift	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27926156del	ClinVar
rs772595552	p.Phe685LeuPheSerTerUnk	frameshift	-	NC_000015.10:g.27926151A>-	NCI-TCGA
rs868252845	p.Ala686Glu	missense variant	-	NC_000015.10:g.27926149G>T	gnomAD
rs868252845	p.Ala686Val	missense variant	-	NC_000015.10:g.27926149G>A	gnomAD
rs775872950	p.Ala686CysPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.27926150_27926151insA	NCI-TCGA
rs773980859	p.Ala687Val	missense variant	-	NC_000015.10:g.27926146G>A	ExAC,TOPMed,gnomAD
rs773980859	p.Ala687Val	missense variant	-	NC_000015.10:g.27926146G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1344265643	p.Ala687Thr	missense variant	-	NC_000015.10:g.27926147C>T	gnomAD
rs773980859	p.Ala687Glu	missense variant	-	NC_000015.10:g.27926146G>T	ExAC,TOPMed,gnomAD
rs749087766	p.Leu688Pro	missense variant	-	NC_000015.10:g.27926143A>G	ExAC,TOPMed,gnomAD
VAR_020635	p.Leu688Phe	Missense	-	-	UniProt
rs1267509582	p.Val690Ala	missense variant	-	NC_000015.10:g.27926137A>G	TOPMed
rs1225147656	p.Met692Leu	missense variant	-	NC_000015.10:g.27926132T>A	TOPMed
rs1225147656	p.Met692Val	missense variant	-	NC_000015.10:g.27926132T>C	TOPMed
rs1377631663	p.Met692Ile	missense variant	-	NC_000015.10:g.27926130C>T	gnomAD
NCI-TCGA novel	p.Glu693Gly	missense variant	-	NC_000015.10:g.27926128T>C	NCI-TCGA
rs745803719	p.Ala694Thr	missense variant	-	NC_000015.10:g.27871922C>T	ExAC,TOPMed,gnomAD
RCV000299479	p.Ala694Thr	missense variant	Oculocutaneous albinism	NC_000015.10:g.27871922C>T	ClinVar
rs771063630	p.His697Tyr	missense variant	-	NC_000015.10:g.27871913G>A	ExAC,gnomAD
rs150391476	p.His699Asn	missense variant	-	NC_000015.10:g.27871907G>T	ESP,ExAC,TOPMed,gnomAD
rs150391476	p.His699Tyr	missense variant	-	NC_000015.10:g.27871907G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu700Ser	missense variant	-	NC_000015.10:g.27871903A>G	NCI-TCGA
COSM171645	p.Glu702Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.27871898C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu702Lys	missense variant	-	NC_000015.10:g.27871898C>T	NCI-TCGA
rs778021996	p.Tyr703Cys	missense variant	-	NC_000015.10:g.27871894T>C	ExAC,gnomAD
rs1400493644	p.Val704Ala	missense variant	-	NC_000015.10:g.27871891A>G	TOPMed
rs758611210	p.Val704Phe	missense variant	-	NC_000015.10:g.27871892C>A	ExAC,TOPMed,gnomAD
rs189633442	p.Gly705Glu	missense variant	-	NC_000015.10:g.27871888C>T	1000Genomes
rs1416576052	p.Glu706Lys	missense variant	-	NC_000015.10:g.27871886C>T	TOPMed
rs1437129627	p.Glu706Gly	missense variant	-	NC_000015.10:g.27871885T>C	gnomAD
rs1437129627	p.Glu706Gly	missense variant	-	NC_000015.10:g.27871885T>C	NCI-TCGA Cosmic
rs1335779460	p.Thr708Asn	missense variant	-	NC_000015.10:g.27871879G>T	TOPMed
rs1335779460	p.Thr708Asn	missense variant	-	NC_000015.10:g.27871879G>T	NCI-TCGA
rs1270742157	p.Thr708Ala	missense variant	-	NC_000015.10:g.27871880T>C	gnomAD
rs753088699	p.Ala709Val	missense variant	-	NC_000015.10:g.27871876G>A	ExAC,gnomAD
rs1312908957	p.Lys713Asn	missense variant	-	NC_000015.10:g.27871863C>G	gnomAD
rs1190078338	p.Met714Thr	missense variant	-	NC_000015.10:g.27871257A>G	TOPMed,gnomAD
rs752419245	p.Glu718Asp	missense variant	-	NC_000015.10:g.27871244C>G	ExAC,TOPMed,gnomAD
rs1205432942	p.Gln719Lys	missense variant	-	NC_000015.10:g.27871243G>T	gnomAD
rs776631782	p.Arg720His	missense variant	-	NC_000015.10:g.27871239C>T	ExAC,TOPMed,gnomAD
rs141545475	p.Arg720Cys	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27871240G>A	UniProt,dbSNP
VAR_020636	p.Arg720Cys	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27871240G>A	UniProt
rs141545475	p.Arg720Cys	missense variant	-	NC_000015.10:g.27871240G>A	ESP,ExAC,TOPMed,gnomAD
rs141545475	p.Arg720Cys	missense variant	-	NC_000015.10:g.27871240G>A	NCI-TCGA,NCI-TCGA Cosmic
RCV000251137	p.Ile722Thr	missense variant	-	NC_000015.10:g.27871233A>G	ClinVar
rs1800417	p.Ile722Thr	missense variant	-	NC_000015.10:g.27871233A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1366662513	p.Ala723Ser	missense variant	-	NC_000015.10:g.27871231C>A	TOPMed
rs772070952	p.Ala724Thr	missense variant	-	NC_000015.10:g.27871228C>T	ExAC,gnomAD
rs772070952	p.Ala724Thr	missense variant	-	NC_000015.10:g.27871228C>T	NCI-TCGA,NCI-TCGA Cosmic
VAR_006143	p.Ala724Pro	Missense	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]	-	UniProt
rs1409507253	p.Ile725Thr	missense variant	-	NC_000015.10:g.27871224A>G	TOPMed,gnomAD
RCV000592782	p.Val726Ter	frameshift	-	NC_000015.10:g.27871219_27871223del	ClinVar
rs906306917	p.Trp730Ter	stop gained	-	NC_000015.10:g.27871208C>T	TOPMed
rs1378080763	p.Ala733Pro	missense variant	-	NC_000015.10:g.27871201C>G	TOPMed,gnomAD
rs768934658	p.Leu734Arg	missense variant	-	NC_000015.10:g.27871197A>C	ExAC,TOPMed,gnomAD
RCV000779152	p.Leu734Arg	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27871197A>C	ClinVar
rs972353646	p.Ala735Val	missense variant	-	NC_000015.10:g.27871194G>A	TOPMed,gnomAD
RCV000176150	p.Ser736Leu	missense variant	-	NC_000015.10:g.27871191G>A	ClinVar
RCV000724171	p.Ser736Leu	missense variant	-	NC_000015.10:g.27871191G>A	ClinVar
rs780296175	p.Ser736Leu	missense variant	-	NC_000015.10:g.27871191G>A	ExAC,TOPMed,gnomAD
rs780296175	p.Ser736Leu	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27871191G>A	UniProt,dbSNP
VAR_006144	p.Ser736Leu	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27871191G>A	UniProt
rs780296175	p.Ser736Leu	missense variant	-	NC_000015.10:g.27871191G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1250026416	p.Leu738Val	missense variant	-	NC_000015.10:g.27871186G>C	gnomAD
rs1483791469	p.Asp740Gly	missense variant	-	NC_000015.10:g.27871179T>C	gnomAD
rs1213404912	p.Asp740Tyr	missense variant	-	NC_000015.10:g.27871180C>A	gnomAD
rs1255853772	p.Asn741His	missense variant	-	NC_000015.10:g.27871177T>G	TOPMed,gnomAD
rs184326694	p.Ile742Asn	missense variant	-	NC_000015.10:g.27871173A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs377210972	p.Ile742Met	missense variant	-	NC_000015.10:g.27871172G>C	ESP,ExAC,TOPMed,gnomAD
rs121918167	p.Pro743Leu	missense variant	-	NC_000015.10:g.27871170G>A	ExAC,TOPMed,gnomAD
rs121918167	p.Pro743Leu	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27871170G>A	UniProt,dbSNP
VAR_006145	p.Pro743Leu	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27871170G>A	UniProt
rs1227989474	p.Pro743Ser	missense variant	-	NC_000015.10:g.27871171G>A	gnomAD
RCV000755092	p.Pro743Leu	missense variant	Nonsyndromic Oculocutaneous Albinism	NC_000015.10:g.27871170G>A	ClinVar
rs1401716446	p.Phe744Ile	missense variant	-	NC_000015.10:g.27871168A>T	TOPMed
rs150990900	p.Thr745Ala	missense variant	-	NC_000015.10:g.27871165T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1358155377	p.Ala746Val	missense variant	-	NC_000015.10:g.27871161G>A	TOPMed
NCI-TCGA novel	p.Ala746Thr	missense variant	-	NC_000015.10:g.27871162C>T	NCI-TCGA
rs760615438	p.Thr747Ile	missense variant	-	NC_000015.10:g.27871158G>A	ExAC,TOPMed,gnomAD
rs767532456	p.Met748Leu	missense variant	-	NC_000015.10:g.27871156T>A	ExAC,gnomAD
rs767532456	p.Met748Val	missense variant	-	NC_000015.10:g.27871156T>C	ExAC,gnomAD
COSM3886806	p.Pro750Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27851472G>A	NCI-TCGA Cosmic
rs1013445454	p.Pro750His	missense variant	-	NC_000015.10:g.27851471G>T	gnomAD
rs780969715	p.Val751Leu	missense variant	-	NC_000015.10:g.27851469C>A	ExAC,gnomAD
rs780969715	p.Val751Met	missense variant	-	NC_000015.10:g.27851469C>T	NCI-TCGA,NCI-TCGA Cosmic
rs780969715	p.Val751Met	missense variant	-	NC_000015.10:g.27851469C>T	ExAC,gnomAD
COSM6141949	p.Leu752Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27851466G>T	NCI-TCGA Cosmic
COSM4053782	p.Asn754Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27851458G>C	NCI-TCGA Cosmic
COSM960073	p.Leu755Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27851456A>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu755Met	missense variant	-	NC_000015.10:g.27851457G>T	NCI-TCGA
rs148894313	p.His757Gln	missense variant	-	NC_000015.10:g.27851449G>C	ESP,ExAC,TOPMed,gnomAD
rs1389510425	p.His757Tyr	missense variant	-	NC_000015.10:g.27851451G>A	gnomAD
rs751518755	p.His757Arg	missense variant	-	NC_000015.10:g.27851450T>C	ExAC,gnomAD
rs758377459	p.Asp758Asn	missense variant	-	NC_000015.10:g.27851448C>T	NCI-TCGA
rs758377459	p.Asp758Asn	missense variant	-	NC_000015.10:g.27851448C>T	ExAC,TOPMed,gnomAD
rs752888326	p.Asp758Val	missense variant	-	NC_000015.10:g.27851447T>A	ExAC,TOPMed,gnomAD
rs752888326	p.Asp758Gly	missense variant	-	NC_000015.10:g.27851447T>C	ExAC,TOPMed,gnomAD
RCV000176256	p.Asp758Gly	missense variant	-	NC_000015.10:g.27851447T>C	ClinVar
NCI-TCGA novel	p.Asp758Tyr	missense variant	-	NC_000015.10:g.27851448C>A	NCI-TCGA
rs765361091	p.Pro759Ser	missense variant	-	NC_000015.10:g.27851445G>A	ExAC,TOPMed,gnomAD
rs759815955	p.Glu760Val	missense variant	-	NC_000015.10:g.27851441T>A	ExAC,TOPMed,gnomAD
rs143116542	p.Val761Asp	missense variant	-	NC_000015.10:g.27851438A>T	ESP,ExAC,gnomAD
rs139837760	p.Leu763Met	missense variant	-	NC_000015.10:g.27851433G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756546300	p.Pro764Leu	missense variant	-	NC_000015.10:g.27851429G>A	gnomAD
rs772775471	p.Pro764Ala	missense variant	-	NC_000015.10:g.27851430G>C	ExAC,TOPMed,gnomAD
rs772775471	p.Pro764Ser	missense variant	-	NC_000015.10:g.27851430G>A	ExAC,TOPMed,gnomAD
rs145968118	p.Ala765Thr	missense variant	-	NC_000015.10:g.27851427C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000176257	p.Ala765Thr	missense variant	-	NC_000015.10:g.27851427C>T	ClinVar
rs144064082	p.Pro766Ser	missense variant	-	NC_000015.10:g.27851424G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs144064082	p.Pro766Thr	missense variant	-	NC_000015.10:g.27851424G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs144064082	p.Pro766Ala	missense variant	-	NC_000015.10:g.27851424G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs563235254	p.Pro766Leu	missense variant	-	NC_000015.10:g.27851423G>A	ExAC,TOPMed,gnomAD
rs1420653922	p.Pro767Thr	missense variant	-	NC_000015.10:g.27851421G>T	TOPMed
rs577826548	p.Pro767Leu	missense variant	-	NC_000015.10:g.27851420G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu768Ile	missense variant	-	NC_000015.10:g.27851418G>T	NCI-TCGA
rs752658965	p.Met769Val	missense variant	-	NC_000015.10:g.27851415T>C	ExAC,gnomAD
rs374578342	p.Met769Thr	missense variant	-	NC_000015.10:g.27851414A>G	ESP,ExAC,TOPMed,gnomAD
rs755111887	p.Tyr770Ter	stop gained	-	NC_000015.10:g.27851410A>C	ExAC,gnomAD
NCI-TCGA novel	p.Tyr770Cys	missense variant	-	NC_000015.10:g.27851411T>C	NCI-TCGA
COSM4384833	p.Ala771Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27851408G>A	NCI-TCGA Cosmic
rs754093708	p.Ala771Thr	missense variant	-	NC_000015.10:g.27851409C>T	ExAC,gnomAD
rs754093708	p.Ala771Ser	missense variant	-	NC_000015.10:g.27851409C>A	ExAC,gnomAD
rs773774001	p.Leu772Val	missense variant	-	NC_000015.10:g.27851406G>C	ExAC,gnomAD
rs1184589806	p.Ala773Thr	missense variant	-	NC_000015.10:g.27851403C>T	gnomAD
rs1473065693	p.Ala773Gly	missense variant	-	NC_000015.10:g.27851402G>C	gnomAD
rs762388937	p.Phe774Leu	missense variant	-	NC_000015.10:g.27851398G>T	ExAC,TOPMed,gnomAD
rs987780496	p.Gly775Asp	missense variant	-	NC_000015.10:g.27851396C>T	TOPMed
rs774822330	p.Gly775Ser	missense variant	-	NC_000015.10:g.27851397C>T	ExAC,gnomAD
VAR_043701	p.Gly775Arg	Missense	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]	-	UniProt
rs769370108	p.Ala776Val	missense variant	-	NC_000015.10:g.27851393G>A	ExAC,TOPMed,gnomAD
rs776814755	p.Cys777Tyr	missense variant	-	NC_000015.10:g.27851390C>T	ExAC,TOPMed,gnomAD
RCV000762937	p.Cys777Tyr	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27851390C>T	ClinVar
RCV000493655	p.Cys777Tyr	missense variant	-	NC_000015.10:g.27851390C>T	ClinVar
RCV000505060	p.Gly780Asp	missense variant	Albinism	NC_000015.10:g.27845052C>T	ClinVar
rs141949212	p.Gly780Asp	missense variant	-	NC_000015.10:g.27845052C>T	ESP,ExAC,TOPMed,gnomAD
RCV000500809	p.Gly780Asp	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27845052C>T	ClinVar
RCV000624810	p.Gly780Asp	missense variant	Inborn genetic diseases	NC_000015.10:g.27845052C>T	ClinVar
RCV000762936	p.Gly780Asp	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27845052C>T	ClinVar
NCI-TCGA novel	p.Asn781Tyr	missense variant	-	NC_000015.10:g.27845050T>A	NCI-TCGA
RCV000193498	p.Gly782Arg	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27845047C>T	ClinVar
rs797045839	p.Gly782Arg	missense variant	-	NC_000015.10:g.27845047C>T	TOPMed,gnomAD
rs1407345721	p.Leu784Pro	missense variant	-	NC_000015.10:g.27845040A>G	gnomAD
rs1407345721	p.Leu784Gln	missense variant	-	NC_000015.10:g.27845040A>T	gnomAD
rs148153776	p.Ile785Thr	missense variant	-	NC_000015.10:g.27845037A>G	ESP,ExAC,TOPMed,gnomAD
RCV000755094	p.Ala787Val	missense variant	Nonsyndromic Oculocutaneous Albinism	NC_000015.10:g.27845031G>A	ClinVar
RCV000755093	p.Ala787Glu	missense variant	Nonsyndromic Oculocutaneous Albinism	NC_000015.10:g.27845031G>T	ClinVar
rs142988897	p.Ala787Thr	missense variant	-	NC_000015.10:g.27845032C>T	NCI-TCGA,NCI-TCGA Cosmic
rs200457227	p.Ala787Val	missense variant	-	NC_000015.10:g.27845031G>A	ExAC,TOPMed,gnomAD
rs142988897	p.Ala787Thr	missense variant	-	NC_000015.10:g.27845032C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000785611	p.Ala787Val	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27845031G>A	ClinVar
rs147736385	p.Ser788Leu	missense variant	-	NC_000015.10:g.27845028G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs377517986	p.Ala789Thr	missense variant	-	NC_000015.10:g.27845026C>T	ESP,ExAC,TOPMed
rs1323104489	p.Asn790His	missense variant	-	NC_000015.10:g.27845023T>G	gnomAD
rs1357741348	p.Val791Ala	missense variant	-	NC_000015.10:g.27845019A>G	gnomAD
rs183743105	p.Val791Phe	missense variant	-	NC_000015.10:g.27845020C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs183743105	p.Val791Ile	missense variant	-	NC_000015.10:g.27845020C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs768651740	p.Val792Met	missense variant	-	NC_000015.10:g.27845017C>T	NCI-TCGA
rs768651740	p.Val792Leu	missense variant	-	NC_000015.10:g.27845017C>A	ExAC,gnomAD
rs768651740	p.Val792Met	missense variant	-	NC_000015.10:g.27845017C>T	ExAC,gnomAD
rs1026811783	p.Cys793Tyr	missense variant	-	NC_000015.10:g.27845013C>T	TOPMed
rs755459907	p.Ala794Ser	missense variant	-	NC_000015.10:g.27845011C>A	ExAC,TOPMed,gnomAD
rs755459907	p.Ala794Thr	missense variant	-	NC_000015.10:g.27845011C>T	ExAC,TOPMed,gnomAD
COSM6076994	p.Gly795Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27845008C>A	NCI-TCGA Cosmic
VAR_020637	p.Gly795Arg	Missense	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]	-	UniProt
rs775663159	p.Ile796Met	missense variant	-	NC_000015.10:g.27845003A>C	ExAC,gnomAD
rs769973912	p.Ala797Ser	missense variant	-	NC_000015.10:g.27845002C>A	ExAC,gnomAD
COSM4709159	p.Glu798Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.27844999C>A	NCI-TCGA Cosmic
rs781471173	p.Gln799Ter	stop gained	-	NC_000015.10:g.27844996G>A	ExAC,gnomAD
rs781471173	p.Gln799Lys	missense variant	-	NC_000015.10:g.27844996G>T	ExAC,gnomAD
VAR_020638	p.Gln799His	Missense	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]	-	UniProt
rs1383213839	p.His800Arg	missense variant	-	NC_000015.10:g.27844992T>C	NCI-TCGA
rs1383213839	p.His800Arg	missense variant	-	NC_000015.10:g.27844992T>C	gnomAD
COSM960072	p.Phe804Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27844981A>G	NCI-TCGA Cosmic
rs747340554	p.Phe804Leu	missense variant	-	NC_000015.10:g.27844979G>C	ExAC,gnomAD
rs758859062	p.Ser805Phe	missense variant	-	NC_000015.10:g.27844977G>A	ExAC,gnomAD
rs778004507	p.Ser805Thr	missense variant	-	NC_000015.10:g.27844978A>T	ExAC,gnomAD
rs1220453744	p.Met807Thr	missense variant	-	NC_000015.10:g.27844971A>G	TOPMed,gnomAD
rs1246857246	p.Met807Val	missense variant	-	NC_000015.10:g.27844972T>C	gnomAD
rs1220453744	p.Met807Lys	missense variant	-	NC_000015.10:g.27844971A>T	TOPMed,gnomAD
COSM960071	p.Glu808Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.27844969C>A	NCI-TCGA Cosmic
RCV000487105	p.Phe809Leu	missense variant	-	NC_000015.10:g.27844966A>G	ClinVar
RCV000176361	p.Phe809Ile	missense variant	-	NC_000015.10:g.27844966A>T	ClinVar
rs765779905	p.Phe809Ile	missense variant	-	NC_000015.10:g.27844966A>T	ExAC,TOPMed,gnomAD
rs765779905	p.Phe809Leu	missense variant	-	NC_000015.10:g.27844966A>G	ExAC,TOPMed,gnomAD
COSM1372212	p.Phe810SerPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.27844962A>-	NCI-TCGA Cosmic
rs749961662	p.Arg811Lys	missense variant	-	NC_000015.10:g.27844959C>T	ExAC,gnomAD
rs779382711	p.Arg811Ser	missense variant	-	NC_000015.10:g.27755472C>A	ExAC,gnomAD
rs1342026238	p.Arg811Gly	missense variant	-	NC_000015.10:g.27844960T>C	gnomAD
NCI-TCGA novel	p.Arg811Met	missense variant	-	NC_000015.10:g.27844959C>A	NCI-TCGA
COSM4950912	p.Gly813AlaPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.27755467C>-	NCI-TCGA Cosmic
rs377766646	p.Gly813Ser	missense variant	-	NC_000015.10:g.27755468C>T	ESP,ExAC,gnomAD
COSM5747618	p.Phe814Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27755465A>G	NCI-TCGA Cosmic
rs749886695	p.Pro815Gln	missense variant	-	NC_000015.10:g.27755461G>T	ExAC,TOPMed,gnomAD
COSM700303	p.Met816Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27755459T>A	NCI-TCGA Cosmic
rs766970716	p.Met816Val	missense variant	-	NC_000015.10:g.27755459T>C	ExAC,TOPMed,gnomAD
COSM6141952	p.Met817Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27755454C>A	NCI-TCGA Cosmic
rs1174702147	p.Met817Val	missense variant	-	NC_000015.10:g.27755456T>C	gnomAD
rs1267967087	p.Met817Ile	missense variant	-	NC_000015.10:g.27755454C>T	TOPMed
NCI-TCGA novel	p.Val819Met	missense variant	-	NC_000015.10:g.27755450C>T	NCI-TCGA
NCI-TCGA novel	p.Ser820Pro	missense variant	-	NC_000015.10:g.27755447A>G	NCI-TCGA
rs756885633	p.Cys821Tyr	missense variant	-	NC_000015.10:g.27755443C>T	ExAC,gnomAD
rs1413642291	p.Val823Ala	missense variant	-	NC_000015.10:g.27755437A>G	gnomAD
NCI-TCGA novel	p.Val823Phe	missense variant	-	NC_000015.10:g.27755438C>A	NCI-TCGA
rs1182457892	p.Gly824Val	missense variant	-	NC_000015.10:g.27755434C>A	gnomAD
rs1184076304	p.Met825Ile	missense variant	-	NC_000015.10:g.27755430C>T	gnomAD
rs1477878331	p.Met825Lys	missense variant	-	NC_000015.10:g.27755431A>T	TOPMed
rs763881975	p.Met825Leu	missense variant	-	NC_000015.10:g.27755432T>A	ExAC,TOPMed,gnomAD
rs1483841537	p.Cys826Gly	missense variant	-	NC_000015.10:g.27755429A>C	gnomAD
rs1255943449	p.Tyr827His	missense variant	-	NC_000015.10:g.27755426A>G	TOPMed,gnomAD
rs1201787687	p.Leu828Phe	missense variant	-	NC_000015.10:g.27755423G>A	gnomAD
rs1331325072	p.Ala831Val	missense variant	-	NC_000015.10:g.27755413G>A	gnomAD
rs183101063	p.Ala831Pro	missense variant	-	NC_000015.10:g.27755414C>G	1000Genomes
rs762838711	p.His832Arg	missense variant	-	NC_000015.10:g.27755410T>C	ExAC,gnomAD
rs200918662	p.His832Tyr	missense variant	-	NC_000015.10:g.27755411G>A	TOPMed
rs762838711	p.His832Pro	missense variant	-	NC_000015.10:g.27755410T>G	ExAC,gnomAD
rs200396611	p.Val833Met	missense variant	-	NC_000015.10:g.27755408C>T	ExAC,TOPMed,gnomAD
rs200396611	p.Val833Leu	missense variant	-	NC_000015.10:g.27755408C>A	ExAC,TOPMed,gnomAD
rs200396611	p.Val833Met	missense variant	-	NC_000015.10:g.27755408C>T	NCI-TCGA,NCI-TCGA Cosmic
rs200396611	p.Val833Leu	missense variant	-	NC_000015.10:g.27755408C>A	NCI-TCGA Cosmic
VAR_021682	p.Val833del	inframe_deletion	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]	-	UniProt
rs34704703	p.Val834Met	missense variant	-	NC_000015.10:g.27755405C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs759396151	p.Val834Glu	missense variant	-	NC_000015.10:g.27755404A>T	ExAC,TOPMed,gnomAD
rs1232757925	p.Val835Gly	missense variant	-	NC_000015.10:g.27755401A>C	TOPMed
rs770934507	p.Gly836Arg	missense variant	-	NC_000015.10:g.27755399C>T	ExAC,gnomAD
rs770934507	p.Gly836Ter	stop gained	-	NC_000015.10:g.27755399C>A	ExAC,gnomAD
rs760853582	p.Trp837Ter	stop gained	-	NC_000015.10:g.27755395C>T	ExAC,gnomAD
rs1337308789	p.Asn838His	missense variant	-	NC_000015.10:g.27755393T>G	TOPMed

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001418	Adenocarcinoma	group	BEFREE
C0001916	Albinism	disease	BEFREE;CLINVAR;HPO;MGD
C0002726	Amyloidosis	disease	BEFREE
C0006023	Borna Disease	disease	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE;UNIPROT
C0007114	Malignant neoplasm of skin	disease	BEFREE
C0007115	Malignant neoplasm of thyroid	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007134	Renal Cell Carcinoma	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	BEFREE;GWASCAT;GWASDB
C0007965	Chediak-Higashi Syndrome	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	BEFREE
C0013080	Down Syndrome	disease	BEFREE
C0015396	Eye Color	phenotype	GWASCAT;GWASDB
C0016689	Freckles	phenotype	HPO
C0017636	Glioblastoma	disease	BEFREE
C0018498	Hair Color	phenotype	GWASCAT;GWASDB
C0018799	Heart Diseases	group	BEFREE
C0019163	Hepatitis B	disease	BEFREE
C0020445	Hypercholesterolemia, Familial	disease	BEFREE
C0023434	Chronic Lymphocytic Leukemia	disease	BEFREE
C0024121	Lung Neoplasms	group	BEFREE
C0024141	Lupus Erythematosus, Systemic	disease	BEFREE
C0025007	Measles	disease	BEFREE
C0025202	melanoma	disease	BEFREE;GWASCAT
C0025517	Metabolic Diseases	group	BEFREE
C0026780	Mumps	disease	BEFREE
C0027819	Neuroblastoma	group	BEFREE
C0027960	Nevus	disease	BEFREE
C0027962	Melanocytic nevus	disease	BEFREE
C0028738	Nystagmus	disease	HPO
C0029131	Abnormality of the optic nerve	phenotype	HPO
C0029925	Ovarian Carcinoma	disease	BEFREE
C0030389	Parainfluenza	disease	BEFREE
C0032897	Prader-Willi Syndrome	disease	BEFREE
C0034494	Rabies (disorder)	disease	BEFREE
C0037361	Smell Perception	phenotype	GWASDB
C0038379	Strabismus	disease	HPO
C0038826	Superinfection	group	BEFREE
C0042769	Virus Diseases	group	BEFREE
C0042798	Low Vision	disease	HPO
C0078917	Albinism, Ocular	disease	GENOMICS_ENGLAND;LHGDN
C0078918	Albinism, Oculocutaneous	disease	BEFREE;CLINVAR;LHGDN
C0079504	Hermanski-Pudlak Syndrome	disease	BEFREE
C0080024	Piebaldism	disease	BEFREE
C0085636	Photophobia	phenotype	HPO
C0151779	Cutaneous Melanoma	disease	BEFREE;GWASCAT
C0151891	Retinal depigmentation	phenotype	HPO
C0154920	Pigmentary iris degeneration	phenotype	HPO
C0162635	Angelman Syndrome	disease	BEFREE
C0162835	Hypopigmentation disorder	group	BEFREE
C0178874	Tumor Progression	phenotype	BEFREE
C0220633	Uveal melanoma	disease	GWASCAT
C0234632	Reduced visual acuity	phenotype	HPO
C0239803	Red hair	phenotype	HPO
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0266999	Vesicular Stomatitis	disease	BEFREE
C0268494	Oculocutaneous albinism type 1	disease	MGD
C0268495	Oculocutaneous albinism type 2	disease	BEFREE;CLINVAR;CTD_human;MGD;ORPHANET;UNIPROT
C0268497	Brown oculocutaneous albinism	disease	MGD;UNIPROT
C0268503	Autosomal recessive ocular albinism	disease	BEFREE
C0268579	Propionic acidemia	disease	BEFREE
C0333913	Achromasia	phenotype	HPO
C0342683	ALBINISM, OCULOCUTANEOUS, TYPE III	disease	MGD
C0346156	Benign neoplasm of breast	disease	BEFREE
C0375023	Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site	disease	BEFREE
C0549473	Thyroid carcinoma	disease	BEFREE
C0553723	Squamous cell carcinoma of skin	disease	BEFREE;GWASCAT
C0578626	blue iris (physical finding)	phenotype	HPO
C0596263	Carcinogenesis	phenotype	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C0700095	Central neuroblastoma	disease	BEFREE
C0751748	Nonketotic Hyperglycinemia	disease	BEFREE
C0950123	Genetic Diseases, Inborn	group	CLINVAR
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1456781	Benign melanocytic nevus	disease	BEFREE
C1512419	Hereditary Melanoma	disease	BEFREE
C1519346	Skin Carcinogenesis	disease	BEFREE
C1519689	Tumor Promotion	phenotype	BEFREE
C1847024	ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)	disease	MGD
C1847132	ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE	disease	MGD
C1847836	Oculocutaneous Albinism, Type IV	disease	MGD
C1856895	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1	phenotype	CLINVAR
C1859923	Freckles in sun-exposed areas	phenotype	HPO
C1876214	ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT	disease	BEFREE
C2673809	Infantile nystagmus	phenotype	GENOMICS_ENGLAND
C2673946	Foveal hypoplasia (finding)	phenotype	HPO
C3276161	ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2	disease	MGD
C3665347	Visual Impairment	phenotype	HPO
C3811653	Experimental Organism Basal Cell Carcinoma	phenotype	BEFREE
C3888401	ALBINISM, OCULOCUTANEOUS, TYPE V	disease	MGD
C4020887	Photodysphoria	phenotype	HPO
C4072863	Dull foveal reflex	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005215	transporter activity	TAS
GO:0005302	L-tyrosine transmembrane transporter activity	TAS
GO:0005515	protein binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006726	eye pigment biosynthetic process	TAS
GO:0007286	spermatid development	IEA
GO:0008283	cell population proliferation	IEA
GO:0015828	tyrosine transport	IEA
GO:0030318	melanocyte differentiation	IEA
GO:0042438	melanin biosynthetic process	IEA
GO:0055085	transmembrane transport	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005737	cytoplasm	TAS
GO:0005765	lysosomal membrane	IDA
GO:0005789	endoplasmic reticulum membrane	IDA
GO:0010008	endosome membrane	IDA
GO:0016021	integral component of membrane	IEA
GO:0033162	melanosome membrane	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-5662702	Melanin biosynthesis	TAS
R-HSA-71291	Metabolism of amino acids and derivatives	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015058	1-Naphthylisothiocyanate	1-Naphthylisothiocyanate results in decreased expression of OCA2 mRNA	30723492
C030692	5,6-dihydroxy-2-indolylcarboxylic acid	OCA2 gene mutant form results in decreased abundance of 5,6-dihydroxy-2-indolylcarboxylic acid	12064459
D000082	Acetaminophen	Acetaminophen results in decreased expression of OCA2 mRNA	30723492
D016604	Aflatoxin B1	Aflatoxin B1 affects the methylation of OCA2 intron	30157460
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of OCA2 mRNA	22100608; 31555880;
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of OCA2 gene	31555880
D000447	Aldehydes	Aldehydes results in increased expression of OCA2 mRNA	25014914
D001151	Arsenic	Arsenic affects the methylation of OCA2 gene	25304211
C547126	AZM551248	AZM551248 results in increased expression of OCA2 mRNA	22323515
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of OCA2 mRNA	21871943; 31555880;
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased methylation of OCA2 gene	31555880
C018475	butyraldehyde	butyraldehyde results in increased expression of OCA2 mRNA	26079696
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of OCA2 mRNA	21457566
D003548	Cysteinyldopa	OCA2 gene mutant form results in decreased abundance of Cysteinyldopa	12064459
D004958	Estradiol	Estradiol affects the expression of OCA2 mRNA	23557687
D005038	Ethylnitrosourea	Ethylnitrosourea results in increased mutagenesis of OCA2 gene	17174358
D005047	Etoposide	OCA2 protein affects the susceptibility to Etoposide	16217747
D008770	Methylnitrosourea	Methylnitrosourea results in increased mutagenesis of OCA2 gene	10517996; 17174358;
D009532	Nickel	Nickel results in decreased expression of OCA2 mRNA	24768652
C046012	pentanal	pentanal results in increased expression of OCA2 mRNA	26079696
C005556	propionaldehyde	propionaldehyde results in increased expression of OCA2 mRNA	26079696
C071226	pyrrole-2,3,5-tricarboxylic acid	OCA2 gene mutant form results in decreased abundance of pyrrole-2,3,5-tricarboxylic acid	12064459; 9548375;
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of OCA2 mRNA	25895662
D014635	Valproic Acid	Valproic Acid affects the expression of OCA2 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of OCA2 mRNA	23179753; 27188386; 28001369; 29154799;
D014635	Valproic Acid	Valproic Acid results in increased methylation of OCA2 gene	29154799

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0015	Albinism
KW-0025	Alternative splicing
KW-0225	Disease mutation
KW-0325	Glycoprotein
KW-0472	Membrane
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0812	Transmembrane
KW-1133	Transmembrane helix
KW-0813	Transport

Interpro

InterPro ID	InterPro Term
IPR004680	Cit_transptr-like_dom

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF03600	CitMHS

Gene: OCA2

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction