1-2077526-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2077526
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2077526
    reference: chr 1
allele count: 1
allele frequency: 8.256274768824306e-6
allele num: 121120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.195C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.64C>T
  hgvsp: ENSP00000424228.1:p.Pro22Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424945
  ensembl transcript: ENST00000468310
  gene symbol: PRKCZ
  hgvsc: ENST00000468310.1:c.523C>T
  hgvsp: ENSP00000424945.1:p.Pro175Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.64C>T
  hgvsp: ENSP00000425317.1:p.Pro22Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.64C>T
  hgvsp: ENSP00000383712.2:p.Pro22Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.613C>T
  hgvsp: ENSP00000367830.3:p.Pro205Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.64C>T
  hgvsp: ENSP00000462105.1:p.Pro22Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.52C>T
  hgvsp: ENSP00000424398.1:p.Pro18Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.64C>T
  hgvsp: ENSP00000422349.1:p.Pro22Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*197C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000427134
  ensembl transcript: ENST00000466352
  gene symbol: PRKCZ
  hgvsc: ENST00000466352.1:c.64C>T
  hgvsp: ENSP00000427134.1:p.Pro22Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.64C>T
  hgvsp: ENSP00000421350.1:p.Pro22Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.216C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.64C>T
  hgvsp: ENSP00000421869.1:p.Pro22Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.64C>T
  hgvsp: ENSP00000383711.1:p.Pro22Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.64C>T
  hgvsp: ENSP00000421219.1:p.Pro22Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.52C>T
  hgvsp: ENSP00000424763.1:p.Pro18Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.218+1746C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.301C>T
  hgvsp: ENSP00000426412.1:p.Pro101Ser
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro205Ser
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

1-2077532-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2077532
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2077532
    reference: chr 1
allele count: 2
allele frequency: 1.652237129072764e-5
allele num: 121048
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424945
  ensembl transcript: ENST00000468310
  gene symbol: PRKCZ
  hgvsc: ENST00000468310.1:c.529G>A
  hgvsp: ENSP00000424945.1:p.Glu177Lys
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.70G>A
  hgvsp: ENSP00000383711.1:p.Glu24Lys
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.70G>A
  hgvsp: ENSP00000425317.1:p.Glu24Lys
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.70G>A
  hgvsp: ENSP00000424228.1:p.Glu24Lys
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.70G>A
  hgvsp: ENSP00000421350.1:p.Glu24Lys
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.222G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.70G>A
  hgvsp: ENSP00000421869.1:p.Glu24Lys
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.70G>A
  hgvsp: ENSP00000421219.1:p.Glu24Lys
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.218+1752G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*203G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.58G>A
  hgvsp: ENSP00000424763.1:p.Glu20Lys
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.58G>A
  hgvsp: ENSP00000424398.1:p.Glu20Lys
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.70G>A
  hgvsp: ENSP00000422349.1:p.Glu24Lys
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.619G>A
  hgvsp: ENSP00000367830.3:p.Glu207Lys
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000427134
  ensembl transcript: ENST00000466352
  gene symbol: PRKCZ
  hgvsc: ENST00000466352.1:c.70G>A
  hgvsp: ENSP00000427134.1:p.Glu24Lys
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.70G>A
  hgvsp: ENSP00000383712.2:p.Glu24Lys
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.70G>A
  hgvsp: ENSP00000462105.1:p.Glu24Lys
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.58G>A
  hgvsp: ENSP00000422764.1:p.Glu20Lys
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.201G>A
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu207Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

1-2077537-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2077537
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2077537
    reference: chr 1
allele count: 1
allele frequency: 8.264736024331383e-6
allele num: 120996
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.75G>A
  hgvsp: ENST00000482686.1:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424945
  ensembl transcript: ENST00000468310
  gene symbol: PRKCZ
  hgvsc: ENST00000468310.1:c.534G>A
  hgvsp: ENST00000468310.1:c.534G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.75G>A
  hgvsp: ENST00000461465.1:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.312G>A
  hgvsp: ENST00000461106.2:c.312G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.63G>A
  hgvsp: ENST00000497183.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000427134
  ensembl transcript: ENST00000466352
  gene symbol: PRKCZ
  hgvsc: ENST00000466352.1:c.75G>A
  hgvsp: ENST00000466352.1:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.75G>A
  hgvsp: ENST00000470596.1:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.218+1757G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.75G>A
  hgvsp: ENST00000400920.1:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.75G>A
  hgvsp: ENST00000470511.1:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*208G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.75G>A
  hgvsp: ENST00000471018.2:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.206G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.63G>A
  hgvsp: ENST00000478770.2:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.624G>A
  hgvsp: ENST00000378567.3:c.624G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.227G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.75G>A
  hgvsp: ENST00000400921.2:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.75G>A
  hgvsp: ENST00000470986.1:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.75G>A
  hgvsp: ENST00000496325.1:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu208Glu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/1-2077553-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2077553
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2077553
    reference: chr 1
allele count: 1
allele frequency: 8.320021299254527e-6
allele num: 120192
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.634+6C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.85+6C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*218+6C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.85+6C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.73+6C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.85+6C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.85+6C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.322+6C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.85+6C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.237+6C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.85+6C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.73+6C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.218+1773C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.85+6C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.73+6C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.85+6C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.85+6C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.216+6C>A
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14854
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.634+6C>A
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

1-2077553-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2077553
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2077553
    reference: chr 1
allele count: 2
allele frequency: 1.664004259850905e-5
allele num: 120192
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.85+6C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*218+6C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.634+6C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.85+6C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.73+6C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.85+6C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.73+6C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.85+6C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.322+6C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.237+6C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.85+6C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.216+6C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.85+6C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.218+1773C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.85+6C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.85+6C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.73+6C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.85+6C>T
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.634+6C>T
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP

1-2077554-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2077554
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2077554
    reference: chr 1
allele count: 4
allele frequency: 3.330557868442964e-5
allele num: 120100
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.85+7G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.218+1774G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.634+7G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.73+7G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.73+7G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.237+7G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.85+7G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.85+7G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.73+7G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.216+7G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.85+7G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.85+7G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.85+7G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*218+7G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.85+7G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.322+7G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.85+7G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.85+7G>A
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.634+7G>A
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD

1-2077565-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2077565
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2077565
    reference: chr 1
allele count: 1
allele frequency: 8.396587626788473e-6
allele num: 119096
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.73+18C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.216+18C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.85+18C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*218+18C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.237+18C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.85+18C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.73+18C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.85+18C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.85+18C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.322+18C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.85+18C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.634+18C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.73+18C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.85+18C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.85+18C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.85+18C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.85+18C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.218+1785C>T
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-2077566-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2077566
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2077566
    reference: chr 1
allele count: 5
allele frequency: 4.2035881828729e-5
allele num: 118946
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.85+19C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.85+19C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.634+19C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.85+19C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.218+1786C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.85+19C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.85+19C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.85+19C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.237+19C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.73+19C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.85+19C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*218+19C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.73+19C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.322+19C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.85+19C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.216+19C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.73+19C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.85+19C>T
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21880
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4818
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

1-2077567-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2077567
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2077567
    reference: chr 1
allele count: 9
allele frequency: 7.569004087262207e-5
allele num: 118906
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*218+20G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.634+20G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.73+20G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.85+20G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.85+20G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.85+20G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.85+20G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.85+20G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.237+20G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.322+20G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.85+20G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.85+20G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.216+20G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.73+20G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.73+20G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.85+20G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.85+20G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.218+1787G>A
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21683
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10249
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

1-2077567-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2077567
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2077567
    reference: chr 1
allele count: 2
allele frequency: 1.68200090828049e-5
allele num: 118906
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.218+1787G>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.85+20G>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.634+20G>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.85+20G>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.322+20G>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.85+20G>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.85+20G>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.216+20G>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.85+20G>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.85+20G>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.237+20G>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.85+20G>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.85+20G>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.73+20G>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.85+20G>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.73+20G>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*218+20G>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.73+20G>T
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

1-2077569-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2077569
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2077569
    reference: chr 1
allele count: 1
allele frequency: 8.421903687109433e-6
allele num: 118738
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.85+22C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.85+22C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.73+22C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.634+22C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.85+22C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.73+22C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.322+22C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.85+22C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.85+22C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.85+22C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.85+22C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.237+22C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.85+22C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.218+1789C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.73+22C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.216+22C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*218+22C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.85+22C>T
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/1-2077570-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2077570
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2077570
    reference: chr 1
allele count: 1
allele frequency: 8.428292090890703e-6
allele num: 118648
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.85+23C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.85+23C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.85+23C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.85+23C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.85+23C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.85+23C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.85+23C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.73+23C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.322+23C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.634+23C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.216+23C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*218+23C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.237+23C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.85+23C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.73+23C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.85+23C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.73+23C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.218+1790C>A
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11483
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

1-2077570-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2077570
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2077570
    reference: chr 1
allele count: 16
allele frequency: 1.348526734542512e-4
allele num: 118648
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.85+23C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.216+23C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.85+23C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.85+23C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.85+23C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.218+1790C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.85+23C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.85+23C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.634+23C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.85+23C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.73+23C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.85+23C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.322+23C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.73+23C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*218+23C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.73+23C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.85+23C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.237+23C>T
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

1-2077571-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2077571
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2077571
    reference: chr 1
allele count: 1
allele frequency: 8.434121080242228e-6
allele num: 118566
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*218+24G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.85+24G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.73+24G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.218+1791G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.85+24G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.85+24G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.85+24G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.85+24G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.73+24G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.85+24G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.73+24G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.85+24G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.322+24G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.216+24G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.85+24G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.634+24G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.85+24G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.237+24G>A
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5908
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum

1-2077584-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2077584
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2077584
    reference: chr 1
allele count: 1
allele frequency: 8.499065102838687e-6
allele num: 117660
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.216+37G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.85+37G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.85+37G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.322+37G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.73+37G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.85+37G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.85+37G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.634+37G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.85+37G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.218+1804G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*218+37G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.85+37G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.85+37G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.73+37G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.237+37G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.85+37G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.73+37G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.85+37G>A
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7737
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/1-2077585-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2077585
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2077585
    reference: chr 1
allele count: 1
allele frequency: 8.515131388477325e-6
allele num: 117438
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*218+38C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.85+38C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.73+38C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.216+38C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.85+38C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.85+38C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.85+38C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.85+38C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.85+38C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.85+38C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.218+1805C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.73+38C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.73+38C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.85+38C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.634+38C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.322+38C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.237+38C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.85+38C>A
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

1-2077591-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2077591
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2077591
    reference: chr 1
allele count: 1
allele frequency: 8.615193755707565e-6
allele num: 116074
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.73+44C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.85+44C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.216+44C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.85+44C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.85+44C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.634+44C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.73+44C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.85+44C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.85+44C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.85+44C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.322+44C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.85+44C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*218+44C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.85+44C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.73+44C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.85+44C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.237+44C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.218+1811C>G
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12402
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/1-2077594-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2077594
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2077594
    reference: chr 1
allele count: 1
allele frequency: 8.765010079761592e-6
allele num: 114090
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.85+47A>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.322+47A>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.85+47A>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.85+47A>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*218+47A>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.85+47A>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.634+47A>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.85+47A>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.85+47A>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.218+1814A>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.73+47A>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.73+47A>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.73+47A>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.216+47A>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.85+47A>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.85+47A>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.85+47A>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.237+47A>C
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12729
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/1-2077594-ACC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2077594
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2077592
    reference: chr 1
allele count: 1
allele frequency: 8.765010079761592e-6
allele num: 114090
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.634+49_634+50delCC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*218+49_*218+50delCC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.85+49_85+50delCC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.322+49_322+50delCC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.85+49_85+50delCC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.85+49_85+50delCC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.237+49_237+50delCC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.85+49_85+50delCC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.85+49_85+50delCC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.218+1816_218+1817delCC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.85+49_85+50delCC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.85+49_85+50delCC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.73+49_73+50delCC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.73+49_73+50delCC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.85+49_85+50delCC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.73+49_73+50delCC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.216+49_216+50delCC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.85+49_85+50delCC
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12682
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6821
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: ACC
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

1-2077595-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2077595
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2077595
    reference: chr 1
allele count: 1
allele frequency: 8.610297916307904e-6
allele num: 116140
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.85+48C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.73+48C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*218+48C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.634+48C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.85+48C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.85+48C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.73+48C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.216+48C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.85+48C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.85+48C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.85+48C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.322+48C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.85+48C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.73+48C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.85+48C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.237+48C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.85+48C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.218+1815C>T
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7623
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

1-2080261-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080261
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080261
    reference: chr 1
allele count: 1
allele frequency: 8.315870006320061e-6
allele num: 120252
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.86-50G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.74-50G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.86-50G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.219-50G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.635-50G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.86-50G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.86-50G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.217-50G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.323-50G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.74-50G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.74-50G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.86-50G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.86-50G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*219-50G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.86-50G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.86-50G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.238-50G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.86-50G>C
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/1-2080262-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080262
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080262
    reference: chr 1
allele count: 12
allele frequency: 9.982198412830453e-5
allele num: 120214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.219-49C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.74-49C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.74-49C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*219-49C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.86-49C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.635-49C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.86-49C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.238-49C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.86-49C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.86-49C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.86-49C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.86-49C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.86-49C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.86-49C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.86-49C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.74-49C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.217-49C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.323-49C>A
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10169
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

1-2080262-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080262
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080262
    reference: chr 1
allele count: 1
allele frequency: 8.31849867735871e-6
allele num: 120214
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.86-49C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.635-49C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.238-49C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.217-49C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.74-49C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.86-49C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.86-49C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.74-49C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.86-49C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.86-49C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.219-49C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.86-49C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.74-49C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*219-49C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.323-49C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.86-49C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.86-49C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.86-49C>T
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

1-2080263-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080263
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080263
    reference: chr 1
allele count: 3
allele frequency: 2.496214075319099e-5
allele num: 120182
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.323-48G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*219-48G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.86-48G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.86-48G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.86-48G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.86-48G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.86-48G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.86-48G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.86-48G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.74-48G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.219-48G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.86-48G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.217-48G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.74-48G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.74-48G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.86-48G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.635-48G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.238-48G>A
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10483
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/1-2080266-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080266
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080266
    reference: chr 1
allele count: 4
allele frequency: 3.323308020803908e-5
allele num: 120362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.86-45C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.219-45C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.86-45C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.323-45C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.86-45C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.74-45C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.86-45C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*219-45C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.74-45C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.86-45C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.635-45C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.74-45C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.86-45C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.86-45C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.86-45C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.238-45C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.217-45C>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.86-45C>A
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

1-2080275-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080275
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080275
    reference: chr 1
allele count: 2
allele frequency: 1.66008167601846e-5
allele num: 120476
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.323-36A>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.219-36A>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.86-36A>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.86-36A>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.635-36A>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*219-36A>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.86-36A>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.74-36A>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.86-36A>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.86-36A>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.86-36A>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.238-36A>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.74-36A>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.86-36A>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.217-36A>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.86-36A>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.74-36A>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.86-36A>G
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

1-2080277-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080277
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080277
    reference: chr 1
allele count: 5
allele frequency: 4.149721968628102e-5
allele num: 120490
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.86-34C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.86-34C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.238-34C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.74-34C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.635-34C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*219-34C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.74-34C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.86-34C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.74-34C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.86-34C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.86-34C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.86-34C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.86-34C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.86-34C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.86-34C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.217-34C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.323-34C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.219-34C>T
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6455
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 1
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

1-2080282-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080282
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080282
    reference: chr 1
allele count: 3
allele frequency: 2.487892257679294e-5
allele num: 120584
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.86-29C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.86-29C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.86-29C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.74-29C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.323-29C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.217-29C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.86-29C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.86-29C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.238-29C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.635-29C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.86-29C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.74-29C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.86-29C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.86-29C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.86-29C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*219-29C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.74-29C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.219-29C>T
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

1-2080283-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080283
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080283
    reference: chr 1
allele count: 12
allele frequency: 9.950908849674937e-5
allele num: 120592
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.86-28G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.86-28G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.238-28G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.86-28G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.86-28G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.86-28G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.86-28G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.219-28G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.74-28G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.86-28G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.86-28G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*219-28G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.635-28G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.323-28G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.74-28G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.217-28G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.74-28G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.86-28G>A
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6478
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

1-2080289-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080289
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080288
    reference: chr 1
allele count: 1
allele frequency: 8.28225940036442e-6
allele num: 120740
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.86-20delC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.74-20delC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.86-20delC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.86-20delC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.635-20delC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*219-20delC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.323-20delC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.219-20delC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.86-20delC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.86-20delC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.238-20delC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.74-20delC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.86-20delC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.86-20delC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.217-20delC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.74-20delC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.86-20delC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.86-20delC
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: TC
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

1-2080293-TCCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080293
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080289
    reference: chr 1
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.74-13_74-10delCCTC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.86-13_86-10delCCTC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.86-13_86-10delCCTC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.86-13_86-10delCCTC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.86-13_86-10delCCTC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.238-13_238-10delCCTC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.74-13_74-10delCCTC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.635-13_635-10delCCTC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.86-13_86-10delCCTC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*219-13_*219-10delCCTC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.219-13_219-10delCCTC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.217-13_217-10delCCTC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.74-13_74-10delCCTC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.86-13_86-10delCCTC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.86-13_86-10delCCTC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.86-13_86-10delCCTC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.323-13_323-10delCCTC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.86-13_86-10delCCTC
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: TCCTC
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

1-2080295-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080295
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080295
    reference: chr 1
allele count: 1
allele frequency: 8.278968109414843e-6
allele num: 120788
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.86-16C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.86-16C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.238-16C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.86-16C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.86-16C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.86-16C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.217-16C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.74-16C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.86-16C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.86-16C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.74-16C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.323-16C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.86-16C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.635-16C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.86-16C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*219-16C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.74-16C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.219-16C>G
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-2080295-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080295
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080295
    reference: chr 1
allele count: 1
allele frequency: 8.278968109414843e-6
allele num: 120788
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*219-16C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.635-16C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.86-16C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.86-16C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.86-16C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.74-16C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.86-16C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.219-16C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.217-16C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.86-16C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.86-16C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.86-16C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.238-16C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.323-16C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.74-16C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.86-16C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.86-16C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.74-16C>T
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13016
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD

1-2080297-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080297
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080297
    reference: chr 1
allele count: 2
allele frequency: 1.655492095025246e-5
allele num: 120810
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.74-14C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.86-14C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.74-14C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.74-14C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.86-14C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.86-14C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.323-14C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*219-14C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.86-14C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.86-14C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.238-14C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.86-14C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.635-14C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.219-14C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.86-14C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.86-14C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.86-14C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.217-14C>T
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

1-2080298-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080298
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080298
    reference: chr 1
allele count: 1
allele frequency: 8.276775368316504e-6
allele num: 120820
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.86-13C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.635-13C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*219-13C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.86-13C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.86-13C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.74-13C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.219-13C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.74-13C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.86-13C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.86-13C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.86-13C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.323-13C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.74-13C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.86-13C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.217-13C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.86-13C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.86-13C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.238-13C>G
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

1-2080298-CCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080298
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080296
    reference: chr 1
allele count: 3
allele frequency: 2.483032610494951e-5
allele num: 120820
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.86-7_86-6delTC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.86-7_86-6delTC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.86-7_86-6delTC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.217-7_217-6delTC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.86-7_86-6delTC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.86-7_86-6delTC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.219-7_219-6delTC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.323-7_323-6delTC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.635-7_635-6delTC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.86-7_86-6delTC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.86-7_86-6delTC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*219-7_*219-6delTC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.74-7_74-6delTC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.86-7_86-6delTC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.86-7_86-6delTC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.238-7_238-6delTC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.74-7_74-6delTC
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.74-7_74-6delTC
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12736
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: CCT
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

1-2080299-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080299
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080299
    reference: chr 1
allele count: 1
allele frequency: 8.276912380605539e-6
allele num: 120818
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.86-12C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.86-12C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.74-12C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.86-12C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.86-12C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.238-12C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.219-12C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.86-12C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.74-12C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.86-12C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.86-12C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.86-12C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.635-12C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*219-12C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.86-12C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.323-12C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.74-12C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.217-12C>G
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12747
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

1-2080300-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080300
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080300
    reference: chr 1
allele count: 2
allele frequency: 1.655135886656295e-5
allele num: 120836
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.238-11T>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.86-11T>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.86-11T>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.74-11T>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.86-11T>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*219-11T>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.86-11T>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.74-11T>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.86-11T>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.74-11T>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.86-11T>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.635-11T>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.86-11T>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.219-11T>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.217-11T>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.323-11T>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.86-11T>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.86-11T>A
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ

1-2080305-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080305
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080305
    reference: chr 1
allele count: 1
allele frequency: 8.273351534706709e-6
allele num: 120870
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.86-6C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.219-6C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.86-6C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.86-6C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.86-6C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.217-6C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.86-6C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.238-6C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.74-6C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*219-6C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.86-6C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.86-6C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.86-6C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.635-6C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.74-6C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.86-6C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.323-6C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.74-6C>G
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.635-6C>G
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/1-2080317-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080317
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080317
    reference: chr 1
allele count: 2
allele frequency: 1.653657891255457e-5
allele num: 120944
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.225A>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*225A>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.244A>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.92A>C
  hgvsp: ENSP00000462105.1:p.Tyr31Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.92A>C
  hgvsp: ENSP00000425317.1:p.Tyr31Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.641A>C
  hgvsp: ENSP00000367830.3:p.Tyr214Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.92A>C
  hgvsp: ENSP00000383712.2:p.Tyr31Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.92A>C
  hgvsp: ENSP00000424228.1:p.Tyr31Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.92A>C
  hgvsp: ENSP00000421869.1:p.Tyr31Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.80A>C
  hgvsp: ENSP00000424398.1:p.Tyr27Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.80A>C
  hgvsp: ENSP00000424763.1:p.Tyr27Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.92A>C
  hgvsp: ENSP00000421350.1:p.Tyr31Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.92A>C
  hgvsp: ENSP00000422349.1:p.Tyr31Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.92A>C
  hgvsp: ENSP00000383711.1:p.Tyr31Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.80A>C
  hgvsp: ENSP00000422764.1:p.Tyr27Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.92A>C
  hgvsp: ENSP00000421219.1:p.Tyr31Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.329A>C
  hgvsp: ENSP00000426412.1:p.Tyr110Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.223A>C
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr214Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

1-2080317-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080317
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080317
    reference: chr 1
allele count: 1
allele frequency: 8.268289456277286e-6
allele num: 120944
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.92A>T
  hgvsp: ENSP00000422349.1:p.Tyr31Phe
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.223A>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.80A>T
  hgvsp: ENSP00000424763.1:p.Tyr27Phe
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.92A>T
  hgvsp: ENSP00000424228.1:p.Tyr31Phe
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.92A>T
  hgvsp: ENSP00000421219.1:p.Tyr31Phe
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.92A>T
  hgvsp: ENSP00000425317.1:p.Tyr31Phe
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.641A>T
  hgvsp: ENSP00000367830.3:p.Tyr214Phe
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*225A>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.92A>T
  hgvsp: ENSP00000421350.1:p.Tyr31Phe
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.329A>T
  hgvsp: ENSP00000426412.1:p.Tyr110Phe
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.244A>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.80A>T
  hgvsp: ENSP00000424398.1:p.Tyr27Phe
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.80A>T
  hgvsp: ENSP00000422764.1:p.Tyr27Phe
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.225A>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.92A>T
  hgvsp: ENSP00000421869.1:p.Tyr31Phe
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.92A>T
  hgvsp: ENSP00000462105.1:p.Tyr31Phe
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.92A>T
  hgvsp: ENSP00000383712.2:p.Tyr31Phe
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.92A>T
  hgvsp: ENSP00000383711.1:p.Tyr31Phe
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr214Phe
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

1-2080320-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080320
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080320
    reference: chr 1
allele count: 3
allele frequency: 2.480281760007937e-5
allele num: 120954
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.332T>C
  hgvsp: ENSP00000426412.1:p.Ile111Thr
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.95T>C
  hgvsp: ENSP00000383711.1:p.Ile32Thr
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.95T>C
  hgvsp: ENSP00000422349.1:p.Ile32Thr
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.95T>C
  hgvsp: ENSP00000425317.1:p.Ile32Thr
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.83T>C
  hgvsp: ENSP00000422764.1:p.Ile28Thr
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.95T>C
  hgvsp: ENSP00000462105.1:p.Ile32Thr
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.95T>C
  hgvsp: ENSP00000424228.1:p.Ile32Thr
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.95T>C
  hgvsp: ENSP00000421219.1:p.Ile32Thr
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.226T>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.644T>C
  hgvsp: ENSP00000367830.3:p.Ile215Thr
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.95T>C
  hgvsp: ENSP00000383712.2:p.Ile32Thr
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.95T>C
  hgvsp: ENSP00000421350.1:p.Ile32Thr
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.95T>C
  hgvsp: ENSP00000421869.1:p.Ile32Thr
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.83T>C
  hgvsp: ENSP00000424763.1:p.Ile28Thr
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*228T>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.228T>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.83T>C
  hgvsp: ENSP00000424398.1:p.Ile28Thr
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.247T>C
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13084
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile215Thr
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-2080329-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080329
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080329
    reference: chr 1
allele count: 12
allele frequency: 9.91997883737848e-5
allele num: 120968
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.104C>G
  hgvsp: ENSP00000424228.1:p.Ser35Cys
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.104C>G
  hgvsp: ENSP00000383711.1:p.Ser35Cys
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.653C>G
  hgvsp: ENSP00000367830.3:p.Ser218Cys
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.104C>G
  hgvsp: ENSP00000421219.1:p.Ser35Cys
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.104C>G
  hgvsp: ENSP00000383712.2:p.Ser35Cys
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.92C>G
  hgvsp: ENSP00000424398.1:p.Ser31Cys
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.235C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.104C>G
  hgvsp: ENSP00000425317.1:p.Ser35Cys
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.92C>G
  hgvsp: ENSP00000422764.1:p.Ser31Cys
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.104C>G
  hgvsp: ENSP00000462105.1:p.Ser35Cys
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.104C>G
  hgvsp: ENSP00000421350.1:p.Ser35Cys
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.341C>G
  hgvsp: ENSP00000426412.1:p.Ser114Cys
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.256C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.104C>G
  hgvsp: ENSP00000421869.1:p.Ser35Cys
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*237C>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.104C>G
  hgvsp: ENSP00000422349.1:p.Ser35Cys
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.92C>G
  hgvsp: ENSP00000424763.1:p.Ser31Cys
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.237C>G
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17789
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser218Cys
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

1-2080332-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080332
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080332
    reference: chr 1
allele count: 5
allele frequency: 4.132914531327492e-5
allele num: 120980
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.95G>A
  hgvsp: ENSP00000424763.1:p.Arg32Gln
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.95G>A
  hgvsp: ENSP00000422764.1:p.Arg32Gln
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.107G>A
  hgvsp: ENSP00000383712.2:p.Arg36Gln
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*240G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.344G>A
  hgvsp: ENSP00000426412.1:p.Arg115Gln
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.107G>A
  hgvsp: ENSP00000424228.1:p.Arg36Gln
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.107G>A
  hgvsp: ENSP00000425317.1:p.Arg36Gln
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.107G>A
  hgvsp: ENSP00000421219.1:p.Arg36Gln
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.656G>A
  hgvsp: ENSP00000367830.3:p.Arg219Gln
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.238G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.259G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.107G>A
  hgvsp: ENSP00000421869.1:p.Arg36Gln
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.107G>A
  hgvsp: ENSP00000421350.1:p.Arg36Gln
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.95G>A
  hgvsp: ENSP00000424398.1:p.Arg32Gln
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.107G>A
  hgvsp: ENSP00000422349.1:p.Arg36Gln
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.107G>A
  hgvsp: ENSP00000383711.1:p.Arg36Gln
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.107G>A
  hgvsp: ENSP00000462105.1:p.Arg36Gln
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.240G>A
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg219Gln
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

1-2080338-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080338
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080338
    reference: chr 1
allele count: 1
allele frequency: 8.264599414866361e-6
allele num: 120998
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.113A>G
  hgvsp: ENSP00000421350.1:p.His38Arg
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.113A>G
  hgvsp: ENSP00000383712.2:p.His38Arg
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.244A>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.350A>G
  hgvsp: ENSP00000426412.1:p.His117Arg
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.101A>G
  hgvsp: ENSP00000424398.1:p.His34Arg
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.101A>G
  hgvsp: ENSP00000422764.1:p.His34Arg
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.113A>G
  hgvsp: ENSP00000421869.1:p.His38Arg
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*246A>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.113A>G
  hgvsp: ENSP00000424228.1:p.His38Arg
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.113A>G
  hgvsp: ENSP00000425317.1:p.His38Arg
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.113A>G
  hgvsp: ENSP00000421219.1:p.His38Arg
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.113A>G
  hgvsp: ENSP00000422349.1:p.His38Arg
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.113A>G
  hgvsp: ENSP00000383711.1:p.His38Arg
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.662A>G
  hgvsp: ENSP00000367830.3:p.His221Arg
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.265A>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.246A>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.113A>G
  hgvsp: ENSP00000462105.1:p.His38Arg
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.101A>G
  hgvsp: ENSP00000424763.1:p.His34Arg
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His221Arg
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP

1-2080339-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080339
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080339
    reference: chr 1
allele count: 8
allele frequency: 6.611898110650116e-5
allele num: 120994
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.114T>C
  hgvsp: ENST00000470511.1:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.247T>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.245T>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*247T>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.114T>C
  hgvsp: ENST00000470596.1:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.114T>C
  hgvsp: ENST00000400920.1:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.351T>C
  hgvsp: ENST00000461106.2:c.351T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.114T>C
  hgvsp: ENST00000496325.1:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.663T>C
  hgvsp: ENST00000378567.3:c.663T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.266T>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.114T>C
  hgvsp: ENST00000400921.2:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.114T>C
  hgvsp: ENST00000482686.1:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.102T>C
  hgvsp: ENST00000478770.2:c.102T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.102T>C
  hgvsp: ENST00000486681.1:c.102T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.114T>C
  hgvsp: ENST00000461465.1:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.114T>C
  hgvsp: ENST00000471018.2:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.114T>C
  hgvsp: ENST00000470986.1:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.102T>C
  hgvsp: ENST00000497183.1:c.102T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13005
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His221His
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-2080347-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080347
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080347
    reference: chr 1
allele count: 2
allele frequency: 1.653083827880912e-5
allele num: 120986
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.255T>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.110T>G
  hgvsp: ENSP00000424398.1:p.Ile37Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.122T>G
  hgvsp: ENSP00000422349.1:p.Ile41Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.110T>G
  hgvsp: ENSP00000424763.1:p.Ile37Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.110T>G
  hgvsp: ENSP00000422764.1:p.Ile37Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.122T>G
  hgvsp: ENSP00000424228.1:p.Ile41Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.122T>G
  hgvsp: ENSP00000421219.1:p.Ile41Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.359T>G
  hgvsp: ENSP00000426412.1:p.Ile120Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.671T>G
  hgvsp: ENSP00000367830.3:p.Ile224Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.274T>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.122T>G
  hgvsp: ENSP00000425317.1:p.Ile41Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.122T>G
  hgvsp: ENSP00000462105.1:p.Ile41Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.122T>G
  hgvsp: ENSP00000421350.1:p.Ile41Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.253T>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.122T>G
  hgvsp: ENSP00000383712.2:p.Ile41Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*255T>G
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.122T>G
  hgvsp: ENSP00000421869.1:p.Ile41Ser
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.122T>G
  hgvsp: ENSP00000383711.1:p.Ile41Ser
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile224Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

1-2080354-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080354
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080354
    reference: chr 1
allele count: 3
allele frequency: 2.48032277267015e-5
allele num: 120952
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.262C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.129C>T
  hgvsp: ENST00000471018.2:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.129C>T
  hgvsp: ENST00000461465.1:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.129C>T
  hgvsp: ENST00000470511.1:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.678C>T
  hgvsp: ENST00000378567.3:c.678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.129C>T
  hgvsp: ENST00000400921.2:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.117C>T
  hgvsp: ENST00000478770.2:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.129C>T
  hgvsp: ENST00000400920.1:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.129C>T
  hgvsp: ENST00000482686.1:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.117C>T
  hgvsp: ENST00000497183.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.129C>T
  hgvsp: ENST00000470596.1:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.281C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*262C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.129C>T
  hgvsp: ENST00000470986.1:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.129C>T
  hgvsp: ENST00000496325.1:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.260C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.117C>T
  hgvsp: ENST00000486681.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.366C>T
  hgvsp: ENST00000461106.2:c.366C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp226Asp
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

1-2080360-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080360
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080360
    reference: chr 1
allele count: 31
allele frequency: 2.563593662134894e-4
allele num: 120924
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.135G>A
  hgvsp: ENST00000470986.1:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.123G>A
  hgvsp: ENST00000497183.1:c.123G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.135G>A
  hgvsp: ENST00000400921.2:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.135G>A
  hgvsp: ENST00000470596.1:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.135G>A
  hgvsp: ENST00000400920.1:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.372G>A
  hgvsp: ENST00000461106.2:c.372G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.287G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.684G>A
  hgvsp: ENST00000378567.3:c.684G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.135G>A
  hgvsp: ENST00000496325.1:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.135G>A
  hgvsp: ENST00000470511.1:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.123G>A
  hgvsp: ENST00000478770.2:c.123G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.123G>A
  hgvsp: ENST00000486681.1:c.123G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.135G>A
  hgvsp: ENST00000482686.1:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.135G>A
  hgvsp: ENST00000461465.1:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*268G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422349
  ensembl transcript: ENST00000471018
  gene symbol: PRKCZ
  hgvsc: ENST00000471018.2:c.135G>A
  hgvsp: ENST00000471018.2:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.266G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.268G>A
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Ser228Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

1-2080383-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080383
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080383
    reference: chr 1
allele count: 1
allele frequency: 8.279790686891435e-6
allele num: 120776
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.138+20C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.126+20C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.138+20C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.138+20C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.269+20C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.138+20C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.687+20C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.271+20C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*271+20C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.138+20C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.375+20C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.138+20C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.126+20C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.138+20C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.138+20C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.126+20C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.290+20C>T
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6456
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

1-2080384-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080384
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080384
    reference: chr 1
allele count: 1
allele frequency: 8.281436332317477e-6
allele num: 120752
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.290+21G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*271+21G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.126+21G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.138+21G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.687+21G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.138+21G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.375+21G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.138+21G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.138+21G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.271+21G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.138+21G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.138+21G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.138+21G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.269+21G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.126+21G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.138+21G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.126+21G>C
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6456
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-2080384-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080384
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080384
    reference: chr 1
allele count: 3
allele frequency: 2.484430899695243e-5
allele num: 120752
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.126+21G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.138+21G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.138+21G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.138+21G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.138+21G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.138+21G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.687+21G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.271+21G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.126+21G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.138+21G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.138+21G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*271+21G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.126+21G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.138+21G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.269+21G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.290+21G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.375+21G>A
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

1-2080395-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080395
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080395
    reference: chr 1
allele count: 23
allele frequency: 1.905772003380674e-4
allele num: 120686
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.138+32C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.290+32C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.375+32C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*271+32C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.687+32C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.126+32C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.138+32C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.126+32C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.138+32C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.138+32C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.138+32C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.271+32C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.138+32C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.138+32C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.138+32C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.126+32C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.269+32C>T
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12616
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 3
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

1-2080396-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080396
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080396
    reference: chr 1
allele count: 3
allele frequency: 2.485665992774998e-5
allele num: 120692
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.138+33G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.687+33G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.138+33G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.138+33G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*271+33G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.138+33G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.375+33G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.138+33G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.290+33G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.138+33G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.271+33G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.269+33G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.126+33G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.138+33G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.126+33G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.126+33G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.138+33G>A
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

1-2080399-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080399
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080399
    reference: chr 1
allele count: 1
allele frequency: 8.285690612312537e-6
allele num: 120690
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.126+36G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*271+36G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.271+36G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.138+36G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.138+36G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.126+36G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.138+36G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.138+36G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.138+36G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.687+36G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.138+36G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.375+36G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.138+36G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.290+36G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.269+36G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.126+36G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.138+36G>A
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-2080401-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080401
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080401
    reference: chr 1
allele count: 2
allele frequency: 1.657000828500414e-5
allele num: 120700
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.138+38C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.138+38C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.138+38C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.126+38C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.126+38C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.687+38C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*271+38C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.269+38C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.126+38C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.138+38C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.138+38C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.138+38C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.290+38C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.375+38C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.138+38C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.138+38C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.271+38C>T
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3374
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP

1-2080406-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080406
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080406
    reference: chr 1
allele count: 1
allele frequency: 8.290636555074699e-6
allele num: 120618
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.271+43G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.138+43G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.138+43G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.126+43G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.138+43G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.138+43G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.687+43G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.290+43G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.138+43G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*271+43G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.375+43G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.138+43G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.269+43G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.126+43G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.138+43G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.138+43G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.126+43G>A
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

1-2080407-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080407
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080407
    reference: chr 1
allele count: 1
allele frequency: 8.294074713025015e-6
allele num: 120568
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.375+44G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.138+44G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.126+44G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.290+44G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.138+44G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.687+44G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.138+44G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.138+44G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.138+44G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.269+44G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.138+44G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.126+44G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.271+44G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.138+44G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*271+44G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.126+44G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.138+44G>A
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP

1-2080412-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2080412
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2080412
    reference: chr 1
allele count: 2
allele frequency: 1.659282857948795e-5
allele num: 120534
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.138+49T>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.290+49T>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.138+49T>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.138+49T>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.138+49T>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.126+49T>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*271+49T>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.138+49T>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.269+49T>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.138+49T>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.138+49T>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.138+49T>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.126+49T>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.687+49T>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.271+49T>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.126+49T>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.375+49T>A
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-2082183-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2082183
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2082183
    reference: chr 1
allele count: 3
allele frequency: 2.577009638016046e-5
allele num: 116414
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*272-46C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.139-46C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.291-46C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.127-46C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.139-46C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.139-46C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.139-46C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.127-46C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.139-46C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.376-46C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.270-46C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.139-46C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.688-46C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.272-46C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.139-46C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.139-46C>T
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.127-46C>T
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

1-2082184-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2082184
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2082184
    reference: chr 1
allele count: 697
allele frequency: 5.976163937237417e-3
allele num: 116630
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.139-45G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*272-45G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.270-45G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.139-45G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.127-45G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.139-45G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.139-45G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.127-45G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.376-45G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.291-45G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.139-45G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.127-45G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.688-45G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.139-45G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.272-45G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.139-45G>A
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.139-45G>A
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 1.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11076
  bin: 2.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 1.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
num of homozygotes: 2
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP

1-2082185-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2082185
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2082185
    reference: chr 1
allele count: 1
allele frequency: 8.561350638676758e-6
allele num: 116804
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000367830
  ensembl transcript: ENST00000378567
  gene symbol: PRKCZ
  hgvsc: ENST00000378567.3:c.688-44G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383711
  ensembl transcript: ENST00000400920
  gene symbol: PRKCZ
  hgvsc: ENST00000400920.1:c.139-44G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421869
  ensembl transcript: ENST00000496325
  gene symbol: PRKCZ
  hgvsc: ENST00000496325.1:c.139-44G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421219
  ensembl transcript: ENST00000470986
  gene symbol: PRKCZ
  hgvsc: ENST00000470986.1:c.139-44G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425643
  ensembl transcript: ENST00000481140
  gene symbol: PRKCZ
  hgvsc: ENST00000481140.1:c.*272-44G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424228
  ensembl transcript: ENST00000470596
  gene symbol: PRKCZ
  hgvsc: ENST00000470596.1:c.139-44G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000425317
  ensembl transcript: ENST00000482686
  gene symbol: PRKCZ
  hgvsc: ENST00000482686.1:c.139-44G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000421350
  ensembl transcript: ENST00000470511
  gene symbol: PRKCZ
  hgvsc: ENST00000470511.1:c.139-44G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000426412
  ensembl transcript: ENST00000461106
  gene symbol: PRKCZ
  hgvsc: ENST00000461106.2:c.376-44G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424763
  ensembl transcript: ENST00000486681
  gene symbol: PRKCZ
  hgvsc: ENST00000486681.1:c.127-44G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000503672
  gene symbol: PRKCZ
  hgvsc: ENST00000503672.1:n.291-44G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000419838
  gene symbol: PRKCZ
  hgvsc: ENST00000419838.2:n.272-44G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000424398
  ensembl transcript: ENST00000478770
  gene symbol: PRKCZ
  hgvsc: ENST00000478770.2:c.127-44G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000383712
  ensembl transcript: ENST00000400921
  gene symbol: PRKCZ
  hgvsc: ENST00000400921.2:c.139-44G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000462105
  ensembl transcript: ENST00000461465
  gene symbol: PRKCZ
  hgvsc: ENST00000461465.1:c.139-44G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl transcript: ENST00000479263
  gene symbol: PRKCZ
  hgvsc: ENST00000479263.1:n.270-44G>C
  variant of: http://identifiers.org/hgnc/9412
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000067606
  ensembl protein: ENSP00000422764
  ensembl transcript: ENST00000497183
  gene symbol: PRKCZ
  hgvsc: ENST00000497183.1:c.127-44G>C
  variant of: http://identifiers.org/hgnc/9412
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
reference allele: G

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000067606
ensembl protein: ENSP00000422764
ensembl transcript: ENST00000497183
gene symbol: PRKCZ
hgvsc: ENST00000497183.1:c.52C>T
hgvsp: ENSP00000422764.1:p.Pro18Ser
variant of: http://identifiers.org/hgnc/9412

GenotypeDepth
all individuals: 3984
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 479
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 274
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 970
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 216
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16179
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24826
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1933
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11169
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2128
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 925
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36293
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3507
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3172
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9713
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1142
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3289
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.18e-1

QD
type: SiteQuality
SIO_000300: 8.779999999999999e0

FS
type: SiteQuality
SIO_000300: 1.198e0

DP
type: SiteQuality
SIO_000300: 1.733623e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.346e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.86e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000067606
ensembl protein: ENSP00000426412
ensembl transcript: ENST00000461106
gene symbol: PRKCZ
hgvsc: ENST00000461106.2:c.307G>A
hgvsp: ENSP00000426412.1:p.Glu103Lys
variant of: http://identifiers.org/hgnc/9412

GenotypeDepth
all individuals: 11170
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16085
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 969
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1935
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 274
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 479
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3984
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 304
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24778
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 79
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3278
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 924
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36118
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3159
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3505
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9683
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2123
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503262078710802e-5
allele num: 66522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.59e-1

DP
type: SiteQuality
SIO_000300: 1.732072e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.546e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e0

MQ
type: SiteQuality
SIO_000300: 5.929e1

QD
type: SiteQuality
SIO_000300: 1.023e1

VQSLOD
type: SiteQuality
SIO_000300: -9.719999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.774e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000067606
ensembl protein: ENSP00000424763
ensembl transcript: ENST00000486681
gene symbol: PRKCZ
hgvsc: ENST00000486681.1:c.63G>A
hgvsp: ENST00000486681.1:c.63G>A(p.%3D)
variant of: http://identifiers.org/hgnc/9412

GenotypeDepth
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16001
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1932
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 139
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 203
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11148
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 967
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 151
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 274
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 381
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3981
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 479
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24765
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3503
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1141
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 924
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3148
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9638
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2119
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3270
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36094
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503804625703029e-5
allele num: 66498
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.73027e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.113e0

QD
type: SiteQuality
SIO_000300: 1.406e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.975e1

FS
type: SiteQuality
SIO_000300: 5.434e0

MQRankSum
type: SiteQuality
SIO_000300: 1.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.69e-1

GenotypeDepth
all individuals: 24274
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 479
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11069
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3974
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1936
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1372
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 274
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 582
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 480
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 971
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34479
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2106
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3084
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1322
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1141
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3504
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 78
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9490
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 920
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3243
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66006
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.713837574067619e-5
allele num: 11476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 1.710203e6

FS
type: SiteQuality
SIO_000300: 9.224e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.570000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

QD
type: SiteQuality
SIO_000300: 1.126e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.633e-1

GenotypeDepth
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3974
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14854
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11069
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 971
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 582
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1372
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1936
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 274
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 480
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24274
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3243
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9490
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 920
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3084
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1322
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2106
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3504
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1141
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34479
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.713837574067619e-5
allele num: 11476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66006
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.525320317266626e-4
allele num: 6556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.126e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.570000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.633e-1

FS
type: SiteQuality
SIO_000300: 9.224e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 1.710203e6

GenotypeDepth
all individuals: 967
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3973
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 275
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 52
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 630
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 541
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1540
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14652
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1932
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24190
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 22
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 11080
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3503
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1458
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3071
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3231
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9466
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34205
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2098
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1141
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.822378811809015e-4
allele num: 16462
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516392199678525e-5
allele num: 65946
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.502e0

MQRankSum
type: SiteQuality
SIO_000300: 6.49e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.3143e1

VQSLOD
type: SiteQuality
SIO_000300: -1.647e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.707098e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

QD
type: SiteQuality
SIO_000300: 1.263e1

GenotypeDepth
all individuals: 33
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1927
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12204
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22224
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 479
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3913
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 40
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1072
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4484
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10504
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1613
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3170
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1308
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29271
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3360
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8867
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2078
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3497
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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South Asian
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European (Finnish)
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VQSLOD
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InbreedingCoeff
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FS
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DP
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BaseQRankSum
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MQ
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MQRankSum
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QD
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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East Asian
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Latino
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European (Finnish)
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VQSLOD
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BaseQRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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QD
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MQRankSum
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DP
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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South Asian
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Other
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Latino
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East Asian
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African
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ReadPosRankSum
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BaseQRankSum
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MQ
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VQSLOD
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FS
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ClippingRankSum
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DP
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QD
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MQRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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European (Finnish)
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European (Non-Finnish)
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South Asian
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Other
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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FS
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DP
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ClippingRankSum
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MQ
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QD
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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European (Non-Finnish)
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Other
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East Asian
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South Asian
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QD
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MQRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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Latino
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Other
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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FS
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VQSLOD
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ReadPosRankSum
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MQRankSum
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SIO_000300: 1.4e-2

DP
type: SiteQuality
SIO_000300: 1.608178e6

QD
type: SiteQuality
SIO_000300: 1.428e1

GenotypeDepth
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variant carriers: 5

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
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African
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European (Non-Finnish)
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allele frequency: 4.611411706837186e-5
allele num: 65056
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 8.327385201046872e-4
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FS
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MQRankSum
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MQ
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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DP
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ReadPosRankSum
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 64994
num of homozygotes: 0

African
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Other
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allele count: 0
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num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQRankSum
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SIO_000300: 7.52e-1

ClippingRankSum
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ReadPosRankSum
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DP
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VQSLOD
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MQ
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SIO_000300: 6.0e1

QD
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SIO_000300: 1.399e1

FS
type: SiteQuality
SIO_000300: 1.003e1

BaseQRankSum
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SIO_000300: 1.55e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele num: 9986
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
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ClippingRankSum
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SIO_000300: -1.936e0

DP
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FS
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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East Asian
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allele num: 8252
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Latino
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num of homozygotes: 0

Other
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MQRankSum
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SIO_000300: 9.8e-1

MQ
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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DP
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VQSLOD
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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Latino
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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African
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European (Finnish)
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East Asian
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South Asian
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BaseQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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MQ
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ReadPosRankSum
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

Latino
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South Asian
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East Asian
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Other
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African
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FS
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ClippingRankSum
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MQRankSum
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VQSLOD
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BaseQRankSum
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QD
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ReadPosRankSum
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InbreedingCoeff
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DP
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SIO_000300: 1.442779e6

MQ
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SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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South Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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African
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Latino
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InbreedingCoeff
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FS
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QD
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MQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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ClippingRankSum
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DP
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BaseQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 63590
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
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VQSLOD
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FS
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InbreedingCoeff
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MQ
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BaseQRankSum
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QD
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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DP
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SIO_000300: 1.445835e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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Latino
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African
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East Asian
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South Asian
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European (Non-Finnish)
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European (Finnish)
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MQ
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FS
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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QD
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VQSLOD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 11

African
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European (Non-Finnish)
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Latino
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European (Finnish)
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allele num: 6554
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East Asian
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Other
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South Asian
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MQRankSum
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DP
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MQ
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BaseQRankSum
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FS
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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European (Non-Finnish)
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Latino
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South Asian
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African
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Other
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.2e-2

DP
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BaseQRankSum
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SIO_000300: -2.009e0

MQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-1

InbreedingCoeff
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SIO_000300: 1.5e-3

MQ
type: SiteQuality
SIO_000300: 5.938e1

FS
type: SiteQuality
SIO_000300: 8.457000000000001e0

QD
type: SiteQuality
SIO_000300: 1.26e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.78e-1

GenotypeDepth
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bin: 4.25e1
variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 1.221299462628236e-4
allele num: 16376
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.515105602860519e-5
allele num: 66002
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

ClippingRankSum
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DP
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InbreedingCoeff
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VQSLOD
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MQRankSum
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QD
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ReadPosRankSum
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BaseQRankSum
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FS
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SIO_000300: 5.475e0

MQ
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SIO_000300: 5.89e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.053818445984805e-5
allele num: 66074
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

QD
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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MQRankSum
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SIO_000300: -3.11e-1

ReadPosRankSum
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SIO_000300: -2.46e-1

MQ
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SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.024254521260509e-5
allele num: 66132
num of homozygotes: 0

MQRankSum
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SIO_000300: 1.04e0

FS
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MQ
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ReadPosRankSum
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BaseQRankSum
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DP
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QD
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Latino
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num of homozygotes: 0

African
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South Asian
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allele num: 16426
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 4.535970244035199e-5
allele num: 66138
num of homozygotes: 0

DP
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QD
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MQ
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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Latino
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num of homozygotes: 0

Other
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European (Non-Finnish)
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East Asian
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South Asian
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MQ
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InbreedingCoeff
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FS
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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DP
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ClippingRankSum
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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South Asian
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European (Non-Finnish)
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allele num: 66198
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African
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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QD
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FS
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BaseQRankSum
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DP
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MQ
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SIO_000300: 6.0e1

ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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Latino
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African
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South Asian
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East Asian
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European (Non-Finnish)
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European (Finnish)
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InbreedingCoeff
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MQRankSum
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QD
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ReadPosRankSum
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MQ
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VQSLOD
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BaseQRankSum
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DP
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FS
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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Other
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South Asian
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European (Non-Finnish)
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InbreedingCoeff
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DP
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FS
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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QD
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MQRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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Latino
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Other
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European (Non-Finnish)
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African
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South Asian
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DP
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MQ
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FS
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QD
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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African
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allele frequency: 0.0e0
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 1.508113651444773e-5
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Latino
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num of homozygotes: 0

East Asian
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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VQSLOD
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ReadPosRankSum
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MQRankSum
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FS
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MQ
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

Latino
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Other
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South Asian
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InbreedingCoeff
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VQSLOD
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FS
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ReadPosRankSum
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DP
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MQ
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MQRankSum
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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South Asian
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East Asian
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QD
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MQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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FS
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ReadPosRankSum
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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South Asian
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Latino
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European (Non-Finnish)
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QD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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DP
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BaseQRankSum
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ClippingRankSum
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FS
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VQSLOD
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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East Asian
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European (Finnish)
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South Asian
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FS
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MQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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DP
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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European (Finnish)
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East Asian
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European (Non-Finnish)
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DP
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MQRankSum
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VQSLOD
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MQ
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African
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European (Finnish)
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Latino
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ClippingRankSum
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FS
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VQSLOD
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MQ
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QD
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DP
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Latino
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MQRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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European (Finnish)
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East Asian
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ClippingRankSum
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DP
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VQSLOD
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MQ
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FS
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BaseQRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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Latino
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Other
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European (Non-Finnish)
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European (Finnish)
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FS
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BaseQRankSum
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DP
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ClippingRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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QD
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GenotypeQuality
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European (Finnish)
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Latino
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South Asian
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East Asian
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European (Non-Finnish)
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African
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QD
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DP
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MQ
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FS
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VQSLOD
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South Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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East Asian
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African
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.508477644361311e-5
allele num: 66292
num of homozygotes: 0

South Asian
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East Asian
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Latino
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Other
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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num of homozygotes: 0

InbreedingCoeff
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FS
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DP
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BaseQRankSum
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MQRankSum
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QD
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ReadPosRankSum
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MQ
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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European (Finnish)
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South Asian
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Other
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QD
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DP
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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FS
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InbreedingCoeff
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SIO_000300: 5.0e-4

MQRankSum
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 3.017774692941425e-5
allele num: 66274
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 9.695559433779329e-5
allele num: 10314
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

InbreedingCoeff
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ReadPosRankSum
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MQ
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SIO_000300: 6.0e1

QD
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ClippingRankSum
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SIO_000300: 6.0e-3

FS
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SIO_000300: 7.92e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.96e-1

DP
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SIO_000300: 2.070288e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

South Asian
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East Asian
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allele num: 8638
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European (Non-Finnish)
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allele num: 66234
num of homozygotes: 0

Latino
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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ClippingRankSum
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SIO_000300: -4.5e-2

FS
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MQ
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DP
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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African
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allele num: 10310
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Other
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East Asian
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European (Non-Finnish)
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South Asian
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DP
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VQSLOD
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MQRankSum
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FS
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

European (Non-Finnish)
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African
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Other
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European (Finnish)
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Latino
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allele num: 11520
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East Asian
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FS
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InbreedingCoeff
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MQRankSum
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QD
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MQ
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BaseQRankSum
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VQSLOD
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DP
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 3.019050206804939e-5
allele num: 66246
num of homozygotes: 0

Latino
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num of homozygotes: 0

African
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Other
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South Asian
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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MQRankSum
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MQ
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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FS
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VQSLOD
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QD
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InbreedingCoeff
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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Other
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East Asian
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allele frequency: 0.0e0
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Latino
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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FS
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DP
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QD
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQ
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BaseQRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
type: Population
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.510984859931704e-5
allele num: 66182
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-1

ReadPosRankSum
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MQRankSum
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VQSLOD
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BaseQRankSum
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FS
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MQ
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QD
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InbreedingCoeff
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

East Asian
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num of homozygotes: 0

Other
type: Population
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.022791850553171e-5
allele num: 66164
num of homozygotes: 0

South Asian
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VQSLOD
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FS
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BaseQRankSum
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DP
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ClippingRankSum
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QD
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MQ
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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num of homozygotes: 0

South Asian
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Latino
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Other
type: Population
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African
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allele frequency: 2.933124755572937e-4
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East Asian
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European (Non-Finnish)
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allele count: 0
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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MQ
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ClippingRankSum
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FS
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ReadPosRankSum
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DP
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QD
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BaseQRankSum
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GenotypeDepth
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variant carriers: 87

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 689

GenotypeQuality
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East Asian
type: Population
allele count: 1
allele frequency: 1.16767865483419e-4
allele num: 8564
num of homozygotes: 0

Latino
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allele count: 73
allele frequency: 6.367759944173063e-3
allele num: 11464
num of homozygotes: 0

South Asian
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allele frequency: 4.238485447866629e-4
allele num: 14156
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Other
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allele num: 870
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African
type: Population
allele count: 12
allele frequency: 1.172791243158718e-3
allele num: 10232
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 558
allele frequency: 8.616163799759118e-3
allele num: 64762
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 33
allele frequency: 5.013673655423883e-3
allele num: 6582
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.442e1

DP
type: SiteQuality
SIO_000300: 1.624143e6

GenotypeDepth
all individuals: 12336
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 378
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24014
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 242
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1937
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 51
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 136
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1405
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1671
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1232
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1561
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3076
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10195
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2028
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 968
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3156
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 898
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31582
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0